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_status validation_method validation_tumor_sample validation_alt_allele filter CPSF3L 54973 broad.mit.edu 37 1 1250995 1250995 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:1250995C>G uc001aee.1 - 5 491 c.433G>C c.(433-435)GAT>CAT p.D145H CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.D151H|CPSF3L_uc009vjz.1_Intron|CPSF3L_uc010nyj.1_Missense_Mutation_p.D116H|CPSF3L_uc001aeg.1_Missense_Mutation_p.D21H|CPSF3L_uc001aeh.1_Missense_Mutation_p.D44H|CPSF3L_uc001aei.1_Splice_Site_p.N47_splice|CPSF3L_uc001aej.1_Intron|CPSF3L_uc001aek.1_5'UTR NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 145 Golgi apparatus|nucleus hydrolase activity 0 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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) AGCTCATCATCTACCTGTGGA 0.642 23 52 --- --- --- --- PASS TAS1R3 83756 broad.mit.edu 37 1 1267268 1267268 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:1267268G>C uc010nyk.1 + 2 442 c.442G>C c.(442-444)GAG>CAG p.E148Q NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 148 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCACTCGTCAGAGCTCGCCAT 0.667 19 45 --- --- --- --- PASS TAS1R3 83756 broad.mit.edu 37 1 1267812 1267812 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:1267812G>A uc010nyk.1 + 3 901 c.901G>A c.(901-903)GAG>AAG p.E301K NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 301 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GGTGGCCAGCGAGGCCTGGCT 0.672 12 14 --- --- --- --- PASS MEGF6 1953 broad.mit.edu 37 1 3410404 3410404 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:3410404C>G uc001akl.2 - 34 4545 c.4318G>C c.(4318-4320)GCA>CCA p.A1440P MEGF6_uc001akk.2_Intron NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 1440 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) TCACAGGGTGCCCCCCCGTCA 0.667 3 15 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10425165 10425165 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:10425165G>A uc001aqx.3 + 42 4576 c.4374G>A c.(4372-4374)CAG>CAA p.Q1458Q KIF1B_uc001aqw.3_Silent_p.Q1412Q|KIF1B_uc001aqy.2_Silent_p.Q1432Q|KIF1B_uc001aqz.2_Silent_p.Q1458Q|KIF1B_uc001ara.2_Silent_p.Q1418Q|KIF1B_uc001arb.2_Silent_p.Q1444Q NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1458 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TAGGTATGCAGAGAAGGAGAA 0.383 19 47 --- --- --- --- PASS C1orf127 148345 broad.mit.edu 37 1 11008317 11008317 + Silent SNP T C C rs150211489 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:11008317T>C uc010oao.1 - 8 1433 c.1428A>G c.(1426-1428)CCA>CCG p.P476P C1orf127_uc001arr.1_Silent_p.P458P|C1orf127_uc001ars.1_Silent_p.P450P NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 476 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CTGTCTGGCGTGGCCTCTCCA 0.662 38 87 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11298641 11298641 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:11298641G>A uc001asd.2 - 12 1941 c.1820C>T c.(1819-1821)GCG>GTG p.A607V NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 607 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 central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GAAATGATCCGCACAGTGGCG 0.547 15 31 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12317132 12317132 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:12317132C>T uc001atv.2 + 9 1070 c.929C>T c.(928-930)GCG>GTG p.A310V VPS13D_uc001atw.2_Missense_Mutation_p.A310V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 310 protein localization ovary(4)|pancreas(1) 5 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) CCCAAGGTGGCGATATCTAAG 0.443 18 58 --- --- --- --- PASS ACTL8 81569 broad.mit.edu 37 1 18152640 18152640 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:18152640G>A uc001bat.2 + 3 943 c.727G>A c.(727-729)GGC>AGC p.G243S NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 243 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCTCCCAGACGGCTCCCGCGT 0.632 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 61 --- --- --- --- PASS TMCO4 255104 broad.mit.edu 37 1 20097876 20097876 + Silent SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:20097876A>C uc001bcn.2 - 5 521 c.279T>G c.(277-279)GGT>GGG p.G93G TMCO4_uc001bcm.2_Silent_p.G93G|TMCO4_uc001bco.1_Silent_p.G93G|TMCO4_uc001bcp.1_Silent_p.G93G|TMCO4_uc009vpn.1_Silent_p.G93G|TMCO4_uc001bcq.1_Silent_p.G93G NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 93 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CTGCTCCTTCACCTCCCAGGC 0.547 7 103 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22924692 22924692 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:22924692A>G uc001bfx.1 + 12 2290 c.2165A>G c.(2164-2166)GAC>GGC p.D722G NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 722 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCTCTCTGGACACCTTCCTG 0.622 23 57 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23240345 23240345 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:23240345C>T uc009vqj.1 + 17 3295 c.3150C>T c.(3148-3150)GAC>GAT p.D1050D EPHB2_uc001bge.2_3'UTR|EPHB2_uc001bgf.2_3'UTR|EPHB2_uc010odu.1_3'UTR NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 1050 Cytoplasmic (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AAAGCAATGACTGTTCTTGCG 0.438 Hereditary_Prostate_Cancer 4 14 --- --- --- --- PASS IL28RA 163702 broad.mit.edu 37 1 24484323 24484323 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:24484323A>T uc001bis.2 - 7 873 c.860T>A c.(859-861)GTG>GAG p.V287E IL28RA_uc001bir.2_Intron|IL28RA_uc001bit.2_Silent_p.R243R|IL28RA_uc001biu.2_Missense_Mutation_p.V203E NM_170743 NP_734464 Q8IU57 I28RA_HUMAN interleukin 28 receptor, alpha isoform 1 287 Cytoplasmic (Potential). cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) CAAGTCATTCACGGACTCTGG 0.537 48 127 --- --- --- --- PASS TMEM57 55219 broad.mit.edu 37 1 25824875 25824875 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:25824875C>T uc001bkk.2 + 11 2115 c.1913C>T c.(1912-1914)CCC>CTC p.P638L TMEM57_uc009vru.2_Missense_Mutation_p.P411L|TMEM57_uc009vrv.2_Missense_Mutation_p.P280L NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 638 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) CCTGTTTCCCCCCACTACTCT 0.537 38 108 --- --- --- --- PASS CCDC21 64793 broad.mit.edu 37 1 26603162 26603162 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:26603162G>C uc001bls.1 + 13 2170 c.2039G>C c.(2038-2040)TGC>TCC p.C680S CCDC21_uc001blr.2_Missense_Mutation_p.C680S|CCDC21_uc010ofa.1_Missense_Mutation_p.C629S|CCDC21_uc001blt.1_Missense_Mutation_p.C112S NM_022778 NP_073615 Q6P2H3 CEP85_HUMAN coiled-coil domain containing 21 680 centrosome|nucleolus|spindle pole 0 all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCCAGTTGCCTTCAAGAT 0.607 16 30 --- --- --- --- PASS MARCKSL1 65108 broad.mit.edu 37 1 32800483 32800483 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:32800483G>T uc001bvd.2 - 2 503 c.303C>A c.(301-303)AGC>AGA p.S101R NM_023009 NP_075385 P49006 MRP_HUMAN MARCKS-like 1 101 plasma membrane calmodulin binding ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGGACAGGCCGCTCAATTTGA 0.577 26 63 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34003178 34003178 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:34003178G>T uc001bxn.1 - 60 9260 c.9231C>A c.(9229-9231)TCC>TCA p.S3077S CSMD2_uc001bxm.1_Silent_p.S3221S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3077 Extracellular (Potential).|Sushi 24. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCTCCCACGGGACGGGACAC 0.597 11 29 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36474339 36474339 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:36474339G>T uc001bzp.2 + 7 1098 c.842G>T c.(841-843)CGT>CTT p.R281L EIF2C3_uc001bzq.2_Missense_Mutation_p.R47L NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 281 PAZ. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CGGAAATACCGTGTTTGTAAT 0.428 34 63 --- --- --- --- PASS ADPRHL2 54936 broad.mit.edu 37 1 36558756 36558756 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:36558756C>T uc001bzt.2 + 6 914 c.861C>T c.(859-861)TGC>TGT p.C287C ADPRHL2_uc001bzu.2_Silent_p.C133C NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 287 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity pancreas(1) 1 Myeloproliferative disorder(586;0.0393) TCCTACGCTGCATGGAGCCAG 0.557 18 68 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38411480 38411480 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:38411480G>A uc001ccg.1 - 3 194 c.100C>T c.(100-102)CGC>TGC p.R34C INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 34 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCAGGAGGCGGCTCTGCCGG 0.677 29 95 --- --- --- --- PASS ZNF684 127396 broad.mit.edu 37 1 41007298 41007298 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:41007298A>G uc001cft.1 + 4 405 c.154A>G c.(154-156)ACC>GCC p.T52A NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) ATGTCCAATTACCAAAACAAA 0.493 7 17 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44424465 44424465 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:44424465C>T uc001ckx.2 + 11 2727 c.1932C>T c.(1930-1932)CTC>CTT p.L644L NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 644 HEAT 11. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGGGGCTTCTCTCCAACCTCT 0.572 29 81 --- --- --- --- PASS ZCCHC11 23318 broad.mit.edu 37 1 52926837 52926837 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:52926837T>C uc001ctx.2 - 19 3524 c.3290A>G c.(3289-3291)TAT>TGT p.Y1097C ZCCHC11_uc001cty.2_Missense_Mutation_p.Y1097C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.Y1097C|ZCCHC11_uc009vze.1_Missense_Mutation_p.Y1097C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.Y856C|ZCCHC11_uc001cua.1_Missense_Mutation_p.Y14C NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1097 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 ATATCCCAAATACTGCACTCT 0.289 37 96 --- --- --- --- PASS PARS2 25973 broad.mit.edu 37 1 55224731 55224731 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:55224731C>T uc001cxy.2 - 2 187 c.104G>A c.(103-105)AGA>AAA p.R35K NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase (mitochondrial)(putative) 35 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity ovary(2) 2 L-Proline(DB00172) CCGCCCTCTTCTTGGGGCACA 0.562 12 28 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70504217 70504217 + Missense_Mutation SNP C A A rs141934258 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:70504217C>A uc001dep.2 + 19 2626 c.2596C>A c.(2596-2598)CCC>ACC p.P866T LRRC7_uc009wbg.2_Missense_Mutation_p.P150T|LRRC7_uc001deq.2_Missense_Mutation_p.P107T NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 866 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGAGACAACCCCCACTACCAG 0.458 36 121 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70504751 70504751 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:70504751G>C uc001dep.2 + 19 3160 c.3130G>C c.(3130-3132)GCC>CCC p.A1044P LRRC7_uc009wbg.2_Missense_Mutation_p.A328P|LRRC7_uc001deq.2_Missense_Mutation_p.A285P NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1044 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GGAAGTGAAAGCCGAAAAGAG 0.443 8 27 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507041 74507041 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:74507041C>A uc001dfy.3 - 7 1766 c.1574G>T c.(1573-1575)CGC>CTC p.R525L LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 525 ovary(2) 2 CAAAAGAGTGCGCTCATTATT 0.358 35 138 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507042 74507042 + Missense_Mutation SNP G A A rs78197692 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:74507042G>A uc001dfy.3 - 7 1765 c.1573C>T c.(1573-1575)CGC>TGC p.R525C LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 525 ovary(2) 2 AAAAGAGTGCGCTCATTATTT 0.363 35 142 --- --- --- --- PASS FPGT 8790 broad.mit.edu 37 1 74670223 74670223 + Silent SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:74670223T>A uc001dgb.1 + 4 529 c.492T>A c.(490-492)GTT>GTA p.V164V TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 164 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 GAATTCTGGTTACCTGTGCAG 0.358 39 98 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79385867 79385867 + Splice_Site SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:79385867C>A uc001diq.3 - 10 1617 c.1461_splice c.e10+1 p.K487_splice NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGCCTACATACCTTATTAGTA 0.318 15 42 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82434990 82434990 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:82434990T>A uc001dit.3 + 14 2782 c.2601T>A c.(2599-2601)AAT>AAA p.N867K LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.N867K|LPHN2_uc001div.2_Missense_Mutation_p.N867K|LPHN2_uc009wcd.2_Missense_Mutation_p.N867K|LPHN2_uc001diw.2_Missense_Mutation_p.N451K|LPHN2_uc009wce.1_5'Flank NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 880 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GTGACCGAAATACTATTCACA 0.408 46 145 --- --- --- --- PASS MCOLN2 255231 broad.mit.edu 37 1 85412764 85412764 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:85412764T>A uc001dkm.2 - 7 1040 c.799A>T c.(799-801)AGT>TGT p.S267C MCOLN2_uc001dkn.2_Splice_Site NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 267 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TTGGCATCACTGTCAAAATAG 0.318 28 113 --- --- --- --- PASS PKN2 5586 broad.mit.edu 37 1 89299084 89299084 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:89299084G>A uc001dmn.2 + 22 3250 c.2908G>A c.(2908-2910)GAG>AAG p.E970K PKN2_uc010osp.1_Missense_Mutation_p.E954K|PKN2_uc010osq.1_Missense_Mutation_p.E813K|PKN2_uc009wcv.2_Missense_Mutation_p.E922K|PKN2_uc010osr.1_Missense_Mutation_p.E635K NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 970 AGC-kinase C-terminal. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TTCGGAAGAGGAGCAGGAAAT 0.403 24 58 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91816355 91816355 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:91816355C>G uc001doa.3 - 18 2246 c.2146G>C c.(2146-2148)GTG>CTG p.V716L HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Missense_Mutation_p.V395L|HFM1_uc010osv.1_Missense_Mutation_p.V400L NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 716 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATCCATTCCACAGCAATATTC 0.328 34 92 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92185495 92185495 + Nonsense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:92185495A>T uc001doh.2 - 9 1834 c.1368T>A c.(1366-1368)TGT>TGA p.C456* TGFBR3_uc009wde.2_Nonsense_Mutation_p.C233*|TGFBR3_uc010osy.1_Nonsense_Mutation_p.C414*|TGFBR3_uc001doi.2_Nonsense_Mutation_p.C455*|TGFBR3_uc001doj.2_Nonsense_Mutation_p.C455* NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 456 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCTCATTGTCACATTTGACAG 0.507 37 114 --- --- --- --- PASS GLMN 11146 broad.mit.edu 37 1 92728459 92728459 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:92728459C>G uc001dor.2 - 16 1549 c.1434G>C c.(1432-1434)TTG>TTC p.L478F GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.L464F NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 478 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) CCAAATACCTCAATAAATTTA 0.269 Multiple_Glomus_Tumors_(of_the_Skin)_Familial 3 30 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94568695 94568695 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:94568695C>T uc001dqh.2 - 5 550 c.446G>A c.(445-447)AGA>AAA p.R149K ABCA4_uc010otn.1_Missense_Mutation_p.R149K NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 149 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 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) TCGTATTCCTCTTCCTACATA 0.393 51 169 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 97771800 97771800 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:97771800A>C uc001drv.2 - 17 2249 c.2112T>G c.(2110-2112)ATT>ATG p.I704M NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 704 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAAAAAAAGGAATCTGAACAG 0.438 85 163 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98039315 98039315 + Splice_Site SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:98039315C>G uc001drv.2 - 11 1476 c.1339_splice c.e11+1 p.V447_splice NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGCACTGTACCTTTAGGATC 0.383 42 113 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98058935 98058935 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:98058935C>G uc001drv.2 - 10 1104 c.967G>C c.(967-969)GCC>CCC p.A323P NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 323 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GAGTGACAGGCGCACATTCCT 0.453 14 45 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109812421 109812421 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:109812421C>G uc001dxa.3 + 22 7147 c.7086C>G c.(7084-7086)CTC>CTG p.L2362L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2362 Extracellular (Potential).|GPS. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCGCTGTGCTCATGGACGTTT 0.667 4 201 --- --- --- --- PASS C1orf103 55791 broad.mit.edu 37 1 111495334 111495334 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:111495334G>C uc001eaa.2 - 2 428 c.172C>G c.(172-174)CTA>GTA p.L58V C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) GATTGAACTAGTGGTATAAGA 0.403 21 61 --- --- --- --- PASS ADORA3 140 broad.mit.edu 37 1 112042946 112042946 + Missense_Mutation SNP C T T rs143962803 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:112042946C>T uc001ebh.3 - 2 1350 c.583G>A c.(583-585)GCC>ACC p.A195T ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron NM_000677 NP_000668 P33765 AA3R_HUMAN adenosine A3 receptor isoform 2 195 Helical; Name=5; (By similarity). activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AGATAGATGGCGCACATGACA 0.433 23 67 --- --- --- --- PASS TRIM33 51592 broad.mit.edu 37 1 114970454 114970454 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:114970454G>A uc001eew.2 - 7 1302 c.1218C>T c.(1216-1218)TCC>TCT p.S406S TRIM33_uc010owr.1_Silent_p.S14S|TRIM33_uc010ows.1_Silent_p.S14S|TRIM33_uc001eex.2_Silent_p.S406S NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 406 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACCTGCCGGGAAAGGCCTG 0.443 T RET papillary thyroid 30 74 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118506562 118506562 + Splice_Site SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:118506562G>A uc001ehk.2 - 48 6601 c.6533_splice c.e48-1 p.T2178_splice NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTTAAAACAGGTAAAATACTT 0.328 41 124 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145109637 145109637 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:145109637G>A uc001eml.1 + 5 439 c.299G>A c.(298-300)GGA>GAA p.G100E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 100 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 GAACAGCATGGAAAGAAGGTG 0.443 36 829 --- --- --- --- PASS PDZK1 5174 broad.mit.edu 37 1 145748527 145748527 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:145748527C>A uc001eon.1 + 4 497 c.400C>A c.(400-402)CGG>AGG p.R134R NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Silent_p.R134R|PDZK1_uc010oza.1_Silent_p.R134R NM_002614 NP_002605 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 134 PDZ 2. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) GACCCAGCCCCGGCTCTGCTA 0.517 24 64 --- --- --- --- PASS NBPF14 25832 broad.mit.edu 37 1 148004660 148004660 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:148004660G>A uc001eqq.2 - 22 2671 c.2654C>T c.(2653-2655)TCA>TTA p.S885L LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.S233L|NBPF14_uc010pac.1_Missense_Mutation_p.S458L NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 885 NBPF 10. cytoplasm ovary(1) 1 all_hematologic(923;0.032) TTCCTCAAATGAGTAAAACAC 0.438 119 218 --- --- --- --- PASS SEMA6C 10500 broad.mit.edu 37 1 151108492 151108492 + Silent SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:151108492A>T uc001ewu.2 - 13 1554 c.1254T>A c.(1252-1254)ACT>ACA p.T418T SEMA6C_uc001ewv.2_Silent_p.T418T|SEMA6C_uc001eww.2_Silent_p.T378T|SEMA6C_uc010pcq.1_Silent_p.T418T NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 418 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) CATACCTGCTAGTGAGAGTGA 0.562 42 27 --- --- --- --- PASS PIP5K1A 8394 broad.mit.edu 37 1 151204164 151204164 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:151204164G>C uc001exj.2 + 5 707 c.255G>C c.(253-255)TTG>TTC p.L85F PIP5K1A_uc001exi.2_Missense_Mutation_p.L72F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L73F|PIP5K1A_uc001exk.2_Missense_Mutation_p.L72F|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 85 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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;0.181) CATCAGCCTTGAAAGGTGCCA 0.428 23 92 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152193338 152193338 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:152193338C>T uc001ezt.1 - 3 843 c.767G>A c.(766-768)GGC>GAC p.G256D NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 256 2. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCCGTAGCCAGAGGAGTG 0.542 116 388 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154091182 154091182 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:154091182G>A uc001fdw.2 - 11 1501 c.1429C>T c.(1429-1431)CAT>TAT p.H477Y NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H477Y NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 477 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCCATAGGATGATGAGGAAAT 0.338 39 184 --- --- --- --- PASS GBA 2629 broad.mit.edu 37 1 155207244 155207244 + Missense_Mutation SNP C T T rs78973108 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:155207244C>T uc001fjh.2 - 7 1037 c.887G>A c.(886-888)CGA>CAA p.R296Q RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R183Q|GBA_uc010pfx.1_Missense_Mutation_p.R247Q|GBA_uc001fji.2_Missense_Mutation_p.R296Q|GBA_uc001fjj.2_Missense_Mutation_p.R296Q|GBA_uc001fjk.2_Missense_Mutation_p.R296Q|GBA_uc001fjl.2_Missense_Mutation_p.R296Q|GBA_uc010pfy.1_Missense_Mutation_p.R209Q|GBA_uc009wqk.1_Missense_Mutation_p.R209Q NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 296 R -> Q (in GD; type 2; also found in a patient with Parkinson disease). carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) AATGAAGTCTCGCTGATGTTC 0.557 Gaucher_disease_type_I 24 64 --- --- --- --- PASS C1orf92 149499 broad.mit.edu 37 1 156902656 156902656 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:156902656C>T uc001fqm.2 + 15 1747 c.1575C>T c.(1573-1575)TTC>TTT p.F525F C1orf92_uc001fql.2_Missense_Mutation_p.S346L NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 525 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAAATTGCTTCGCCCCACAAT 0.493 6 19 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157804447 157804447 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:157804447C>A uc001frk.3 - 4 611 c.468G>T c.(466-468)CAG>CAT p.Q156H NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 156 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACCACTGGTTCTGGTGCTTCA 0.622 32 148 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158605732 158605732 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:158605732C>A uc001fst.1 - 38 5602 c.5403G>T c.(5401-5403)TGG>TGT p.W1801C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1801 Spectrin 17. 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 ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGAGCTTCTCCCAGTGTTCAA 0.522 113 59 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158655035 158655035 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:158655035C>T uc001fst.1 - 2 326 c.127G>A c.(127-129)GCT>ACT p.A43T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 43 Spectrin 1. 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 ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ccccTCTCAGCGACCCGCTCC 0.328 25 96 --- --- --- --- PASS ITLN1 55600 broad.mit.edu 37 1 160851012 160851012 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:160851012G>T uc001fxc.2 - 5 612 c.496C>A c.(496-498)CTG>ATG p.L166M NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 166 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACCTCAGCAGGGAGCTGTTT 0.567 102 39 --- --- --- --- PASS C1orf114 57821 broad.mit.edu 37 1 169390622 169390622 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:169390622C>T uc001gga.1 - 3 1215 c.1047G>A c.(1045-1047)AAG>AAA p.K349K C1orf114_uc001gfz.1_Silent_p.K349K|C1orf114_uc009wvq.1_Silent_p.K349K|C1orf114_uc001ggb.2_Silent_p.K349K|C1orf114_uc001ggc.1_Silent_p.K349K NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 349 Potential. 0 all_hematologic(923;0.208) GTTTTTCTCTCTTTTCTTCTA 0.348 18 92 --- --- --- --- PASS C1orf129 80133 broad.mit.edu 37 1 170931074 170931074 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:170931074C>T uc001ghg.2 + 6 462 c.332C>T c.(331-333)ACG>ATG p.T111M C1orf129_uc009wvy.2_Translation_Start_Site|C1orf129_uc010plz.1_Missense_Mutation_p.T111M NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 111 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACATTCTTACGAGCTTGGTG 0.303 14 14 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175331872 175331872 + Silent SNP G T T rs138173384 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:175331872G>T uc001gkp.1 - 12 2862 c.2781C>A c.(2779-2781)ACC>ACA p.T927T TNR_uc009wwu.1_Silent_p.T927T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 927 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.T927I(1) pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TTTCGTATTCGGTAGCTGGGT 0.527 33 92 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564279 176564279 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:176564279C>A uc001gkz.2 + 3 2703 c.1539C>A c.(1537-1539)TAC>TAA p.Y513* PAPPA2_uc001gky.1_Nonsense_Mutation_p.Y513*|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 513 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCTCCCAGTACAATGGATACT 0.532 18 63 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180053187 180053187 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:180053187G>T uc001gnt.2 + 31 6542 c.6159G>T c.(6157-6159)AGG>AGT p.R2053S CEP350_uc009wxl.2_Missense_Mutation_p.R2052S|CEP350_uc001gnv.2_Missense_Mutation_p.R188S|CEP350_uc001gnw.1_5'Flank NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2053 Potential. centrosome|nucleus|spindle ovary(4) 4 TTGAAGGTAGGATCAGAGCTC 0.353 5 16 --- --- --- --- PASS LAMC2 3918 broad.mit.edu 37 1 183200120 183200120 + Nonsense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:183200120C>G uc001gqa.2 + 12 2053 c.1739C>G c.(1738-1740)TCA>TGA p.S580* LAMC2_uc001gpz.3_Nonsense_Mutation_p.S580*|LAMC2_uc010poa.1_Nonsense_Mutation_p.S280* NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 580 Laminin EGF-like 8; truncated. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 CCCATGGGCTCAGAGCCTGTA 0.483 82 44 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186031077 186031077 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:186031077C>T uc001grq.1 + 47 7636 c.7407C>T c.(7405-7407)ATC>ATT p.I2469I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2469 Ig-like C2-type 22. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAAGAAAAATCTTTGGGCTTT 0.393 12 47 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186106956 186106956 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:186106956G>C uc001grq.1 + 89 14005 c.13776G>C c.(13774-13776)TGG>TGC p.W4592C HMCN1_uc001grs.1_Missense_Mutation_p.W161C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4592 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGTCGGAATGGAGTCTTTGGG 0.483 17 109 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067721 190067721 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:190067721G>A uc001gse.1 - 8 1960 c.1728C>T c.(1726-1728)TTC>TTT p.F576F FAM5C_uc010pot.1_Silent_p.F474F NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 576 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GGCTGCCTCCGAAGGGATTGA 0.463 144 52 --- --- --- --- PASS RGS1 5996 broad.mit.edu 37 1 192547471 192547471 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:192547471G>C uc001gsi.1 + 4 466 c.400G>C c.(400-402)GAA>CAA p.E134Q RGS1_uc010pou.1_Missense_Mutation_p.E134Q NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 134 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) CTGTAAAGCAGAAGAGATATA 0.363 54 215 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196227412 196227412 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:196227412C>T uc001gtd.1 - 26 3183 c.3123G>A c.(3121-3123)CTG>CTA p.L1041L KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.L974L|KCNT2_uc001gtf.1_Silent_p.L1017L|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Silent_p.L545L NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1041 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TGTAGAGGTTCAGTCGCTGCT 0.453 105 41 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197060090 197060090 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:197060090C>G uc001gtu.2 - 23 9783 c.9526G>C c.(9526-9528)GAA>CAA p.E3176Q ASPM_uc001gtv.2_Missense_Mutation_p.E1591Q|ASPM_uc001gtw.3_Missense_Mutation_p.E1024Q NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3176 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTCAGACATTCTTGACCTTCA 0.368 37 92 --- --- --- --- PASS NAV1 89796 broad.mit.edu 37 1 201751848 201751848 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:201751848G>T uc001gwu.2 + 6 2555 c.2208G>T c.(2206-2208)CGG>CGT p.R736R NAV1_uc001gwv.1_Silent_p.R244R|NAV1_uc001gww.1_Silent_p.R345R|NAV1_uc001gwx.2_Silent_p.R345R|NAV1_uc001gwy.1_Silent_p.R117R NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 736 Potential. cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 AGACAGATCGGGAAAAGGAGA 0.552 28 50 --- --- --- --- PASS C4BPA 722 broad.mit.edu 37 1 207297617 207297617 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:207297617C>T uc001hfo.2 + 6 806 c.612C>T c.(610-612)GAC>GAT p.D204D NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 204 Sushi 3. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ACAGCTGTGACCCCCGCTTCT 0.493 28 99 --- --- --- --- PASS C1orf107 27042 broad.mit.edu 37 1 210001471 210001471 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:210001471G>A uc001hhr.1 + 1 139 c.63G>A c.(61-63)AAG>AAA p.K21K C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 21 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) AAAAGCAGAAGAAACATCTTC 0.552 OREG0014221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 98 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216246460 216246460 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:216246460C>T uc001hku.1 - 28 6142 c.5755G>A c.(5755-5757)GGT>AGT p.G1919S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1919 Fibronectin type-III 5.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGAGACCACCCTCGTAAACA 0.468 HNSCC(13;0.011) 37 21 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850616 216850616 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:216850616C>T uc001hkw.1 - 2 440 c.274G>A c.(274-276)GGA>AGA p.G92R ESRRG_uc001hky.1_Missense_Mutation_p.G69R|ESRRG_uc009xdp.1_Missense_Mutation_p.G69R|ESRRG_uc001hkz.1_Missense_Mutation_p.G69R|ESRRG_uc010puc.1_Missense_Mutation_p.G69R|ESRRG_uc001hla.1_Missense_Mutation_p.G69R|ESRRG_uc001hlb.1_Missense_Mutation_p.G69R|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G69R|ESRRG_uc001hld.1_Missense_Mutation_p.G69R|ESRRG_uc001hkx.1_Missense_Mutation_p.G97R|ESRRG_uc009xdo.1_Missense_Mutation_p.G69R|ESRRG_uc001hle.1_Missense_Mutation_p.G69R NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 92 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCACTACCTCCCAGGATAGGA 0.527 47 111 --- --- --- --- PASS TGFB2 7042 broad.mit.edu 37 1 218520187 218520187 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:218520187G>A uc001hlm.2 + 1 797 c.144G>A c.(142-144)CTG>CTA p.L48L TGFB2_uc001hll.2_Silent_p.L48L|TGFB2_uc001hln.2_Silent_p.L48L|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 48 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) TGAGCAAGCTGAAGCTCACCA 0.592 44 94 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227400839 227400839 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:227400839C>T uc001hqr.2 - 3 1295 c.352G>A c.(352-354)GAG>AAG p.E118K CDC42BPA_uc001hqs.2_Missense_Mutation_p.E118K|CDC42BPA_uc009xes.2_Missense_Mutation_p.E118K|CDC42BPA_uc010pvs.1_Missense_Mutation_p.E118K NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 118 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) ACTCTTACCTCAGCTCTTTTC 0.259 5 75 --- --- --- --- PASS GJC2 57165 broad.mit.edu 37 1 228345504 228345504 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:228345504G>C uc001hsk.2 + 2 220 c.45G>C c.(43-45)GAG>GAC p.E15D NM_020435 NP_065168 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 15 Cytoplasmic (Potential). cell death connexon complex|integral to membrane 0 Prostate(94;0.0405) TGCTGGAGGAGATCCACAACC 0.677 5 10 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236746418 236746418 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:236746418C>G uc001hyd.1 - 18 2445 c.2320G>C c.(2320-2322)GAG>CAG p.E774Q HEATR1_uc009xgh.1_Missense_Mutation_p.E17Q NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 774 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTGTTGAGCTCTTCTACATAA 0.423 60 325 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237693748 237693748 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:237693748T>C uc001hyl.1 + 25 2964 c.2844T>C c.(2842-2844)TGT>TGC p.C948C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 948 Cytoplasmic (By similarity).|1.|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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) CATTAGGATGTCATGTGGGTA 0.373 4 18 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237758839 237758839 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:237758839G>A uc001hyl.1 + 34 4598 c.4478G>A c.(4477-4479)AGC>AAC p.S1493N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1493 Cytoplasmic (By similarity).|B30.2/SPRY 3.|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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) GCGGGTGAGAGCATGAGCCCC 0.473 38 21 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242024771 242024771 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:242024771A>G uc001hzh.2 + 10 1548 c.1008A>G c.(1006-1008)GAA>GAG p.E336E EXO1_uc001hzi.2_Silent_p.E336E|EXO1_uc001hzj.2_Silent_p.E336E|EXO1_uc009xgq.2_Silent_p.E336E NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 336 Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ATACTTTTGAACAGATCGATG 0.333 Direct_reversal_of_damage|Editing_and_processing_nucleases 67 35 --- --- --- --- PASS PLD5 200150 broad.mit.edu 37 1 242383356 242383356 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:242383356G>T uc001hzn.1 - 5 796 c.669C>A c.(667-669)TTC>TTA p.F223L PLD5_uc001hzl.3_Missense_Mutation_p.F161L|PLD5_uc001hzm.3_Missense_Mutation_p.F13L|PLD5_uc001hzo.1_Missense_Mutation_p.F131L Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 223 PLD phosphodiesterase 1. integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CCACGATCCAGAAGGAGGACT 0.522 56 29 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243480085 243480085 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:243480085G>C uc001hzw.2 + 9 1114 c.958G>C c.(958-960)GTT>CTT p.V320L SDCCAG8_uc010pyk.1_Missense_Mutation_p.V175L|SDCCAG8_uc010pyl.1_Missense_Mutation_p.V132L|SDCCAG8_uc001hzx.2_Missense_Mutation_p.V132L NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 320 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GTCTGCACTAGTTTCCGTAAG 0.408 67 39 --- --- --- --- PASS HNRNPU 3192 broad.mit.edu 37 1 245027496 245027496 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:245027496G>C uc001iaz.1 - 1 332 c.114C>G c.(112-114)CTC>CTG p.L38L HNRNPU_uc001iba.1_Silent_p.L38L|HNRNPU_uc001ibb.1_Intron NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 38 SAP.|Asp/Glu-rich (acidic). CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) GCGCAGCCTGGAGTCGCTCCA 0.642 7 14 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247013588 247013588 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:247013588C>G uc001ibu.1 - 32 5727 c.5720G>C c.(5719-5721)AGA>ACA p.R1907T AHCTF1_uc001ibv.1_Missense_Mutation_p.R1916T|AHCTF1_uc009xgs.1_Missense_Mutation_p.R768T|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1907 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 ovary(5)|skin(2) 7 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) ATTAGTACTTCTCAATTTTCT 0.333 68 174 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004562 248004562 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:248004562G>A uc001idn.1 - 1 637 c.637C>T c.(637-639)CTG>TTG p.L213L NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCAGTGTCAGAAAAAAACAA 0.512 16 85 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248262725 248262725 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:248262725G>T uc001ids.2 + 3 385 c.48G>T c.(46-48)CTG>CTT p.L16L NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 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;0.0132) TGTTGGGTCTGCTTCCCCCAA 0.363 119 81 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248458198 248458198 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:248458198G>A uc010pzj.1 - 1 683 c.683C>T c.(682-684)TCT>TTT p.S228F NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGCTTCTGTAGAGCGCATGAG 0.512 26 83 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248487683 248487683 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:248487683A>T uc010pzk.1 - 1 188 c.188T>A c.(187-189)CTC>CAC p.L63H NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTTGGCTGAGGAGGAAGTA 0.532 298 122 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685325 248685325 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:248685325C>T uc001ien.1 + 1 378 c.378C>T c.(376-378)GTC>GTT p.V126V NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGCTGCTGTCTGCCGGCCAC 0.592 25 62 --- --- --- --- PASS SH3BP5L 80851 broad.mit.edu 37 1 249106516 249106516 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr1:249106516C>A uc001iew.1 - 7 1317 c.765G>T c.(763-765)ACG>ACT p.T255T SH3BP5L_uc010pzp.1_Silent_p.T148T|SH3BP5L_uc010pzq.1_Silent_p.T223T|SH3BP5L_uc001iev.1_Silent_p.T136T NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 255 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CGGAGTAGCGCGTCTTGGCCT 0.667 23 18 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1161261 1161261 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:1161261G>A uc002qwq.2 + 7 567 c.439G>A c.(439-441)GAA>AAA p.E147K SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 147 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGCTGGCGATGAAGTTACCAT 0.438 14 89 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1652885 1652885 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:1652885C>T uc002qxa.2 - 17 2731 c.2667G>A c.(2665-2667)ATG>ATA p.M889I NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 889 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCAGCGAAGTCATGCCGCTGC 0.627 7 40 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1893045 1893045 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:1893045T>C uc002qxe.2 - 16 3315 c.2488A>G c.(2488-2490)AGG>GGG p.R830G MYT1L_uc002qxd.2_Missense_Mutation_p.R828G|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 830 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCGTCTATCCTCCGGGGTTTC 0.532 26 122 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15415804 15415804 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:15415804G>A uc002rcc.1 - 44 5554 c.5528C>T c.(5527-5529)CCA>CTA p.P1843L NBAS_uc010exl.1_Missense_Mutation_p.P915L|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1843 ovary(2)|liver(1)|skin(1) 4 CAGAGAGCTTGGGGAAAGCAT 0.458 29 113 --- --- --- --- PASS MATN3 4148 broad.mit.edu 37 2 20205673 20205673 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:20205673C>A uc002rdl.2 - 2 685 c.622G>T c.(622-624)GCT>TCT p.A208S MATN3_uc010exu.1_Missense_Mutation_p.A208S NM_002381 NP_002372 O15232 MATN3_HUMAN matrilin 3 precursor 208 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGCCCGAGCCGCCACCTCA 0.602 13 20 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21242603 21242603 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:21242603C>T uc002red.2 - 19 3119 c.2991G>A c.(2989-2991)GGG>GGA p.G997G NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 997 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACCTGGTGTCCCCGGTCAGCG 0.527 7 46 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21250864 21250864 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:21250864G>A uc002red.2 - 14 2031 c.1903C>T c.(1903-1905)CGG>TGG p.R635W NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 635 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGATAGTTCCGAGAGAATTTT 0.368 62 240 --- --- --- --- PASS HADHB 3032 broad.mit.edu 37 2 26496613 26496613 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:26496613A>G uc002rgz.2 + 6 600 c.349A>G c.(349-351)AGA>GGA p.R117G HADHB_uc010ykv.1_Missense_Mutation_p.R95G|HADHB_uc010ykw.1_Missense_Mutation_p.R102G|HADHB_uc002rha.2_Missense_Mutation_p.R117G|HADHB_uc010ykx.1_Missense_Mutation_p.R43G NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 117 R -> G (in TFP deficiency). fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAATGTGGCTAGAGAGGTGAG 0.348 29 52 --- --- --- --- PASS TCF23 150921 broad.mit.edu 37 2 27372107 27372107 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:27372107C>T uc010ylg.1 + 1 106 c.106C>T c.(106-108)CGC>TGC p.R36C NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN transcription factor 23 36 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGAGGAGCCGCCTCAGCAG 0.652 3 14 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27446828 27446828 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:27446828G>C uc002rji.2 + 8 1201 c.1039G>C c.(1039-1041)GAA>CAA p.E347Q CAD_uc010eyw.2_Missense_Mutation_p.E347Q NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 347 Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase). '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 ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TTCAGATATGGAACTGCTTTT 0.507 84 405 --- --- --- --- PASS YIPF4 84272 broad.mit.edu 37 2 32517379 32517379 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:32517379C>G uc002rok.2 + 3 634 c.367C>G c.(367-369)CTT>GTT p.L123V NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 123 Helical; (Potential). endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) GGCTGTTGTTCTTTTCTTTTC 0.318 21 127 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33411937 33411937 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:33411937C>G uc002ros.2 + 6 1216 c.1216C>G c.(1216-1218)CCA>GCA p.P406A LTBP1_uc002rot.2_Missense_Mutation_p.P80A|LTBP1_uc002rou.2_Missense_Mutation_p.P80A|LTBP1_uc002rov.2_Missense_Mutation_p.P80A|LTBP1_uc010ymz.1_Missense_Mutation_p.P80A|LTBP1_uc010yna.1_Missense_Mutation_p.P80A NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 406 EGF-like 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TTGCCATCTTCCATGTATGAA 0.433 9 62 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33783912 33783912 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:33783912G>T uc002rox.2 + 18 2506 c.1879G>T c.(1879-1881)GAC>TAC p.D627Y RASGRP3_uc010ync.1_Missense_Mutation_p.D627Y|RASGRP3_uc002roy.2_Missense_Mutation_p.D626Y NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 627 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TGGCTGGGGGGACTCGGGGTC 0.552 13 97 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37227735 37227735 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:37227735G>T uc002rpp.1 - 33 5635 c.5539C>A c.(5539-5541)CAA>AAA p.Q1847K HEATR5B_uc002rpo.1_Missense_Mutation_p.Q160K|HEATR5B_uc010ezy.1_Missense_Mutation_p.Q342K NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1847 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TTACCTGGTTGAGAATATTCC 0.383 5 161 --- --- --- --- PASS C2orf56 55471 broad.mit.edu 37 2 37475350 37475350 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:37475350C>A uc002rqa.3 + 10 1258 c.1183C>A c.(1183-1185)CCA>ACA p.P395T C2orf56_uc002rqc.3_Missense_Mutation_p.P297T|C2orf56_uc010ynk.1_Missense_Mutation_p.P324T|C2orf56_uc010ynl.1_Missense_Mutation_p.P368T|C2orf56_uc010fah.2_RNA NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 395 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) GTTAATGAATCCAAAGAAGAT 0.363 28 148 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43937375 43937375 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:43937375C>T uc010yny.1 + 13 2203 c.2120C>T c.(2119-2121)TCT>TTT p.S707F PLEKHH2_uc002rte.3_Missense_Mutation_p.S707F|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S706F NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 707 PH 1. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTGGAAAAATCTGGTTATTTA 0.348 38 146 --- --- --- --- PASS ABCG5 64240 broad.mit.edu 37 2 44065709 44065709 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:44065709C>A uc002rtn.2 - 1 250 c.110G>T c.(109-111)AGC>ATC p.S37I ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 37 Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GATGCCCAGGCTGTGAGGCTC 0.672 8 26 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48925888 48925888 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:48925888G>T uc002rwu.3 - 9 802 c.732C>A c.(730-732)TCC>TCA p.S244S GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 244 Extracellular (Potential).|LRR 6. male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GCCTCTGAATGGACTCTAGGC 0.413 Familial_Male-Limited_Precocious_Puberty 31 58 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 51254958 51254958 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:51254958C>T uc010fbq.2 - 2 1931 c.454G>A c.(454-456)GGC>AGC p.G152S NRXN1_uc002rxe.3_Missense_Mutation_p.G152S|NRXN1_uc002rxd.1_Missense_Mutation_p.G152S NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACGAAAAGGCCGCTGAACACC 0.672 10 31 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54127089 54127089 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:54127089C>G uc002rxp.2 - 29 3407 c.3351G>C c.(3349-3351)CAG>CAC p.Q1117H PSME4_uc010yop.1_Missense_Mutation_p.Q1003H|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.Q492H|PSME4_uc010fbv.1_Missense_Mutation_p.Q261H NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TAAGCAATATCTGGTTGATAG 0.343 39 222 --- --- --- --- PASS SMEK2 57223 broad.mit.edu 37 2 55804451 55804451 + Missense_Mutation SNP C A A rs143373895 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:55804451C>A uc002rzc.2 - 11 1981 c.1606G>T c.(1606-1608)GAT>TAT p.D536Y SMEK2_uc002rzb.2_Missense_Mutation_p.G504C|SMEK2_uc002rzd.2_Missense_Mutation_p.D504Y|SMEK2_uc002rza.2_Missense_Mutation_p.G380C NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 536 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCATACTTACCGGGACAAATT 0.204 13 60 --- --- --- --- PASS XPO1 7514 broad.mit.edu 37 2 61753653 61753653 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:61753653T>C uc002sbj.2 - 3 858 c.130A>G c.(130-132)AGA>GGA p.R44G XPO1_uc010fcl.2_Missense_Mutation_p.R40G|XPO1_uc010ypn.1_Missense_Mutation_p.R40G|XPO1_uc002sbk.2_5'UTR NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 44 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGAGCCATTCTTTGCTAAAAT 0.303 16 80 --- --- --- --- PASS CD207 50489 broad.mit.edu 37 2 71060876 71060876 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:71060876C>A uc002shg.2 - 3 513 c.466G>T c.(466-468)GAG>TAG p.E156* NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 156 Potential.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 CTTTTTAACTCTGGGATTTGG 0.438 21 104 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71753408 71753408 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:71753408C>A uc002sie.2 + 12 1488 c.1112C>A c.(1111-1113)CCC>CAC p.P371H DYSF_uc010feg.2_Missense_Mutation_p.P402H|DYSF_uc010feh.2_Missense_Mutation_p.P371H|DYSF_uc002sig.3_Missense_Mutation_p.P371H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P371H|DYSF_uc010fef.2_Missense_Mutation_p.P402H|DYSF_uc010fei.2_Missense_Mutation_p.P402H|DYSF_uc010fek.2_Missense_Mutation_p.P403H|DYSF_uc010fej.2_Missense_Mutation_p.P372H|DYSF_uc010fel.2_Missense_Mutation_p.P372H|DYSF_uc010feo.2_Missense_Mutation_p.P403H|DYSF_uc010fem.2_Missense_Mutation_p.P372H|DYSF_uc010fen.2_Missense_Mutation_p.P403H|DYSF_uc002sif.2_Missense_Mutation_p.P372H NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 371 Cytoplasmic (Potential).|C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTGCTCCGGCCCACAGGCGTA 0.592 37 341 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73635786 73635786 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:73635786G>A uc002sje.1 + 3 475 c.364G>A c.(364-366)GTA>ATA p.V122I ALMS1_uc002sjf.1_Intron NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 121 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GCAACAGATAGTATATCAAGG 0.358 45 68 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73716778 73716778 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:73716778G>T uc002sje.1 + 12 7806 c.7695G>T c.(7693-7695)CGG>CGT p.R2565R ALMS1_uc002sjf.1_Silent_p.R2521R|ALMS1_uc002sjg.2_Silent_p.R1951R|ALMS1_uc002sjh.1_Silent_p.R1951R NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2563 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGAGTCCACGGGGAATGGGAT 0.373 7 229 --- --- --- --- PASS NAT8B 51471 broad.mit.edu 37 2 73927788 73927788 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:73927788G>A uc002sjk.1 - 3 680 c.645C>T c.(643-645)TTC>TTT p.F215F NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 215 gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 GGTGATAGATGAAATGAACTG 0.403 13 63 --- --- --- --- PASS STAMBP 10617 broad.mit.edu 37 2 74087236 74087236 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:74087236G>A uc002sjs.2 + 9 1226 c.1176G>A c.(1174-1176)CAG>CAA p.Q392Q STAMBP_uc002sjt.2_Silent_p.Q392Q|STAMBP_uc002sju.2_Silent_p.Q392Q|STAMBP_uc002sjv.2_Silent_p.Q392Q NM_201647 NP_964010 O95630 STABP_HUMAN STAM binding protein 392 JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding ovary(1)|lung(1)|breast(1)|pancreas(1) 4 CCTGTCGCCAGAAAGGATTTC 0.433 28 109 --- --- --- --- PASS ACTG2 72 broad.mit.edu 37 2 74128523 74128523 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:74128523C>T uc002sjw.2 + 2 207 c.85C>T c.(85-87)CGG>TGG p.R29W ACTG2_uc010fex.1_Missense_Mutation_p.R29W|ACTG2_uc010fey.2_Missense_Mutation_p.R29W|ACTG2_uc010yrn.1_Missense_Mutation_p.R29W NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 29 muscle contraction cytoskeleton|cytosol ATP binding 0 TGATGCCCCCCGGGCTGTCTT 0.617 23 94 --- --- --- --- PASS MTHFD2 10797 broad.mit.edu 37 2 74425790 74425790 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:74425790T>C uc002skk.2 + 1 101 c.22T>C c.(22-24)TCT>CCT p.S8P MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_5'UTR|MTHFD2_uc010ffb.2_Missense_Mutation_p.S8P|MTHFD2_uc010yrp.1_5'UTR NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 8 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) TTCTCTAATGTCTGCTTTGGC 0.687 14 32 --- --- --- --- PASS INO80B 83444 broad.mit.edu 37 2 74682983 74682983 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:74682983C>T uc002slg.2 + 3 335 c.290C>T c.(289-291)TCA>TTA p.S97L INO80B_uc002slf.1_Missense_Mutation_p.S84L|INO80B_uc010yrr.1_Missense_Mutation_p.S84L|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.S115L|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank NM_031288 NP_112578 Q9C086 IN80B_HUMAN high mobility group AT-hook 1-like 4 97 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding pancreas(1) 1 GGGCCTCGCTCACCCTCTCCC 0.547 35 166 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746506 77746506 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:77746506G>C uc002snr.2 - 3 904 c.489C>G c.(487-489)CAC>CAG p.H163Q LRRTM4_uc002snq.2_Missense_Mutation_p.H163Q|LRRTM4_uc002sns.2_Missense_Mutation_p.H163Q|LRRTM4_uc002snt.2_Missense_Mutation_p.H164Q NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 163 LRR 5.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TAGATCTCAAGTGCAAAATGA 0.408 36 86 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79314036 79314036 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:79314036G>T uc002sny.2 - 3 197 c.85C>A c.(85-87)CTG>ATG p.L29M REG1B_uc010ffv.1_Missense_Mutation_p.L29M|REG1B_uc010ffw.2_Missense_Mutation_p.L29M NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 29 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 GGATTAGGCAGCTCTGTCTGG 0.493 69 140 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79350321 79350321 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:79350321G>C uc002snz.2 + 6 584 c.481G>C c.(481-483)GTC>CTC p.V161L REG1A_uc010ysd.1_Missense_Mutation_p.V161L NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 161 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GTTCTCCTTTGTCTGCAAGTT 0.418 17 77 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385884 79385884 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:79385884G>C uc002sod.1 - 2 343 c.88C>G c.(88-90)CAG>GAG p.Q30E REG3A_uc002soe.1_Missense_Mutation_p.Q30E|REG3A_uc002sof.1_Missense_Mutation_p.Q30E NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 30 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 AGTTCCCTCTGGGGTTCTTCA 0.552 11 25 --- --- --- --- PASS C2orf89 129293 broad.mit.edu 37 2 85051322 85051322 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:85051322C>T uc010ysl.1 - 6 1178 c.1089G>A c.(1087-1089)AAG>AAA p.K363K C2orf89_uc002sou.3_Silent_p.K314K NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 363 Extracellular (Potential). integral to membrane ovary(1) 1 TCTTTTTACTCTTCCCTCTGT 0.547 8 33 --- --- --- --- PASS THNSL2 55258 broad.mit.edu 37 2 88484972 88484972 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:88484972C>A uc002ssz.3 + 8 1356 c.1203C>A c.(1201-1203)TAC>TAA p.Y401* THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Nonsense_Mutation_p.Y401*|THNSL2_uc010fhe.2_Intron NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 401 threonine biosynthetic process threonine synthase activity ovary(1) 1 ACTACCATTACCAGCAGATAG 0.592 8 26 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88874576 88874576 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:88874576C>T uc002stc.3 - 13 2627 c.2425G>A c.(2425-2427)GAA>AAA p.E809K NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 809 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CCAGAATCTTCAAATACTATT 0.413 49 269 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88890072 88890072 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:88890072G>C uc002stc.3 - 6 1256 c.1054C>G c.(1054-1056)CCC>GCC p.P352A NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 352 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AGACTGATGGGAATGACTTTC 0.348 25 102 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90193250 90193250 + RNA SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:90193250G>T uc010fhm.2 + 22 c.2840G>T Parts of antibodies, mostly variable regions. CCTGGTATCAGCAGAAACCAG 0.532 49 215 --- --- --- --- PASS NCAPH 23397 broad.mit.edu 37 2 97019078 97019078 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:97019078C>G uc002svz.1 + 8 1029 c.945C>G c.(943-945)ATC>ATG p.I315M NCAPH_uc010fhu.1_Missense_Mutation_p.I291M|NCAPH_uc010fhv.1_Missense_Mutation_p.I304M|NCAPH_uc010yum.1_Missense_Mutation_p.I291M|NCAPH_uc010fhw.1_Missense_Mutation_p.I304M|NCAPH_uc010yun.1_Missense_Mutation_p.I179M|NCAPH_uc002swa.1_Translation_Start_Site NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 315 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) ATCGCCAGATCTGCCCTTCCC 0.502 17 79 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98744705 98744705 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:98744705G>A uc002syo.2 + 6 970 c.706G>A c.(706-708)GAA>AAA p.E236K VWA3B_uc010yvh.1_Missense_Mutation_p.E86K|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.E236K|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 236 ovary(3)|large_intestine(2)|skin(1) 6 TTTGCAGATTGAATCCATTTA 0.473 90 171 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98744741 98744741 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:98744741G>T uc002syo.2 + 6 1006 c.742G>T c.(742-744)GAA>TAA p.E248* VWA3B_uc010yvh.1_Nonsense_Mutation_p.E98*|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Nonsense_Mutation_p.E248*|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 248 ovary(3)|large_intestine(2)|skin(1) 6 GGATGTTCCTGAAGAATCCAA 0.498 39 181 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98797605 98797605 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:98797605C>T uc002syo.2 + 9 1505 c.1241C>T c.(1240-1242)TCT>TTT p.S414F VWA3B_uc010yvh.1_Missense_Mutation_p.S264F|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.S414F|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S71F NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 414 ovary(3)|large_intestine(2)|skin(1) 6 GCCGACTGCTCTTTCCGCCAC 0.537 29 118 --- --- --- --- PASS C2orf55 343990 broad.mit.edu 37 2 99443447 99443447 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:99443447C>T uc002szf.1 - 6 1020 c.726G>A c.(724-726)CGG>CGA p.R242R NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 242 0 CCGATGAGAGCCGCCTCATCT 0.602 92 157 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102456381 102456381 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:102456381C>T uc002tbg.2 + 10 929 c.874C>T c.(874-876)CAG>TAG p.Q292* MAP4K4_uc002tbc.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbd.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbe.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbf.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc010yvy.1_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbh.2_Nonsense_Mutation_p.Q292*|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Nonsense_Mutation_p.Q272*|MAP4K4_uc010fiw.1_Nonsense_Mutation_p.Q134*|MAP4K4_uc002tbj.1_Nonsense_Mutation_p.Q188* NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 292 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TATAAGGGATCAGCCAAATGA 0.408 19 99 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109100635 109100635 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:109100635G>T uc002tec.2 + 13 3635 c.3481G>T c.(3481-3483)GAA>TAA p.E1161* GCC2_uc002ted.2_Nonsense_Mutation_p.E1060* NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1161 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GATGAATATGGAAATAGCTGA 0.259 20 109 --- --- --- --- PASS LIMS1 3987 broad.mit.edu 37 2 109276161 109276161 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:109276161G>C uc002teg.2 + 2 216 c.97G>C c.(97-99)GAG>CAG p.E33Q LIMS1_uc002tef.2_Missense_Mutation_p.E45Q|LIMS1_uc002teh.2_Missense_Mutation_p.E33Q|LIMS1_uc002tei.2_Missense_Mutation_p.E33Q|LIMS1_uc002tej.2_Missense_Mutation_p.E70Q|LIMS1_uc002tek.3_Missense_Mutation_p.E95Q NM_004987 NP_004978 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 33 LIM zinc-binding 1. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding 0 GCTGTACCATGAGCAGTGTTT 0.587 3 146 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125530508 125530508 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:125530508T>A uc002tno.2 + 17 3027 c.2663T>A c.(2662-2664)CTG>CAG p.L888Q CNTNAP5_uc010flu.2_Missense_Mutation_p.L889Q NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 888 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GAGACCTCCCTGCAGGTGGAC 0.547 37 136 --- --- --- --- PASS GPR148 344561 broad.mit.edu 37 2 131486964 131486964 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:131486964G>A uc002trv.1 + 1 242 c.240G>A c.(238-240)CTG>CTA p.L80L NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 80 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) ACCAACGGCTGCGACAGGAGC 0.617 35 54 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131521481 131521481 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:131521481G>T uc002trw.2 + 2 2026 c.1836G>T c.(1834-1836)TTG>TTT p.L612F FAM123C_uc010fmv.2_Missense_Mutation_p.L612F|FAM123C_uc010fms.1_Missense_Mutation_p.L612F|FAM123C_uc010fmt.1_Missense_Mutation_p.L612F|FAM123C_uc010fmu.1_Missense_Mutation_p.L612F NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 612 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CTGAAGGCTTGTTCTCCTCTA 0.577 27 105 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021447 132021447 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:132021447G>T uc002tsn.2 + 15 2471 c.2419G>T c.(2419-2421)GAG>TAG p.E807* PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Nonsense_Mutation_p.E407*|POTEE_uc002tsl.2_Nonsense_Mutation_p.E389*|POTEE_uc010fmy.1_Nonsense_Mutation_p.E271* NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 807 Actin-like. ATP binding 0 CCTGCTGACCGAGGCCCCCCT 0.602 91 89 --- --- --- --- PASS CCDC74A 90557 broad.mit.edu 37 2 132290239 132290239 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:132290239C>T uc002tta.2 + 5 813 c.761C>T c.(760-762)GCG>GTG p.A254V CCDC74A_uc002ttb.2_Missense_Mutation_p.A188V NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 254 skin(1) 1 CAGATGGGGGCGGGGGCACAC 0.602 39 152 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135744573 135744573 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:135744573T>C uc002tue.1 - 7 1900 c.1869A>G c.(1867-1869)ACA>ACG p.T623T YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.T510T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.T351T|YSK4_uc002tui.3_Silent_p.T640T NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 623 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) ATGACTTCTGTGTTCCTGGAT 0.373 124 307 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135744883 135744883 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:135744883A>G uc002tue.1 - 7 1590 c.1559T>C c.(1558-1560)ATA>ACA p.I520T YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.I407T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.I248T|YSK4_uc002tui.3_Missense_Mutation_p.I537T NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 520 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GTGTACAGGTATGTTGACACT 0.423 41 124 --- --- --- --- PASS ZRANB3 84083 broad.mit.edu 37 2 135965199 135965199 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:135965199C>A uc002tum.2 - 19 2931 c.2814G>T c.(2812-2814)CTG>CTT p.L938L ZRANB3_uc002tuk.2_Silent_p.L481L|ZRANB3_uc002tul.2_Silent_p.L936L NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 938 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) CCTGACATTTCAGAGAGCAAA 0.428 72 246 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136566025 136566025 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:136566025C>G uc002tuu.1 - 8 3903 c.3892G>C c.(3892-3894)GAG>CAG p.E1298Q NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1298 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TTCAAAGCCTCATTGATGTAG 0.443 80 305 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141130580 141130580 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:141130580G>T uc002tvj.1 - 69 11737 c.10765C>A c.(10765-10767)CCA>ACA p.P3589T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3589 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTTTACCTGGCTCACAGCTT 0.363 TSP Lung(27;0.18) 81 151 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157151 145157151 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:145157151C>T uc002tvu.2 - 8 2083 c.1603G>A c.(1603-1605)GAA>AAA p.E535K ZEB2_uc002tvv.2_Missense_Mutation_p.E529K|ZEB2_uc010zbm.1_Missense_Mutation_p.E506K|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E564K NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 535 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GCTTTGGCTTCATTGACTTTT 0.403 33 119 --- --- --- --- PASS RND3 390 broad.mit.edu 37 2 151343232 151343232 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:151343232C>A uc002txe.2 - 2 458 c.214G>T c.(214-216)GAG>TAG p.E72* RND3_uc002txf.2_Nonsense_Mutation_p.E72*|RND3_uc002txg.2_Nonsense_Mutation_p.E72*|RND3_uc010zbv.1_Nonsense_Mutation_p.E72*|RND3_uc010zbw.1_5'UTR NM_005168 NP_005159 P61587 RND3_HUMAN ras homolog gene family, member E precursor 72 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.106) AGGCTCAACTCTATTCTTTGT 0.532 48 253 --- --- --- --- PASS PRPF40A 55660 broad.mit.edu 37 2 153528972 153528972 + Splice_Site SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:153528972C>G uc002tyh.3 - 13 1392 c.1370_splice c.e13+1 p.K457_splice PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Splice_Site_p.K404_splice NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 AAACATCTTACTTGTATCTGG 0.348 34 80 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155265537 155265537 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:155265537C>T uc002tyr.3 + 11 1905 c.1338C>T c.(1336-1338)GGC>GGT p.G446G GALNT13_uc002tyt.3_Silent_p.G446G|GALNT13_uc010foc.1_Silent_p.G265G|GALNT13_uc010fod.2_Silent_p.G199G NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 446 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ACAACATGGGCCGCAAGGAAA 0.368 22 84 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158152278 158152278 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:158152278A>G uc002tzg.2 + 4 2100 c.1845A>G c.(1843-1845)CCA>CCG p.P615P GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 615 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TGGCCTGTCCAGTAATCGAAG 0.363 85 131 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163076375 163076375 + Silent SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:163076375A>C uc002ucd.2 - 7 682 c.474T>G c.(472-474)GTT>GTG p.V158V FAP_uc010zct.1_Silent_p.V133V|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Silent_p.V125V NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 158 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 ATTTACTCCCAACAGGCGACC 0.348 19 98 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163228560 163228560 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:163228560C>T uc002uch.1 - 16 3582 c.3370G>A c.(3370-3372)GAA>AAA p.E1124K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 1124 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GAAAGGGATTCTTTGGATTTA 0.353 18 54 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467083 164467083 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:164467083C>A uc002uck.1 - 3 1570 c.1259G>T c.(1258-1260)GGG>GTG p.G420V NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 420 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TGTGTACTTCCCAAAGGATTC 0.527 41 79 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467084 164467084 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:164467084C>A uc002uck.1 - 3 1569 c.1258G>T c.(1258-1260)GGG>TGG p.G420W NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 420 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 GTGTACTTCCCAAAGGATTCA 0.522 41 80 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166900541 166900541 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:166900541C>A uc010zcz.1 - 11 1699 c.1681G>T c.(1681-1683)GGC>TGC p.G561C SCN1A_uc002udo.3_Missense_Mutation_p.G430C|SCN1A_uc010fpk.2_Missense_Mutation_p.G430C NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 561 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATAGGGAGCCACGGATGCTC 0.393 18 65 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168103509 168103509 + Silent SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:168103509A>T uc002udx.2 + 8 5625 c.5607A>T c.(5605-5607)CTA>CTT p.L1869L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1694L|XIRP2_uc010fpq.2_Silent_p.L1647L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1694 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTAACATGCTAGCCACACTCA 0.383 17 92 --- --- --- --- PASS ABCB11 8647 broad.mit.edu 37 2 169836446 169836446 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:169836446G>C uc002ueo.1 - 11 1253 c.1127C>G c.(1126-1128)GCC>GGC p.A376G NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 376 Cytoplasmic (Potential).|ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ACAAGGAGAGGCATTGCCAAG 0.378 9 49 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170062105 170062105 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:170062105C>G uc002ues.2 - 41 7812 c.7599G>C c.(7597-7599)GAG>GAC p.E2533D NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2533 LDL-receptor class B 27.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATGTGGCTCTCTCGATTTTGG 0.468 20 89 --- --- --- --- PASS UBR3 130507 broad.mit.edu 37 2 170806565 170806565 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:170806565A>G uc010zdi.1 + 23 3535 c.3535A>G c.(3535-3537)AAA>GAA p.K1179E UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_Missense_Mutation_p.K32E NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1179 Potential. sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 AACATTGGACAAAGAAGAAAG 0.328 23 79 --- --- --- --- PASS ITGA6 3655 broad.mit.edu 37 2 173349611 173349611 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:173349611G>C uc002uhp.1 + 12 1854 c.1651G>C c.(1651-1653)GAA>CAA p.E551Q ITGA6_uc010zdy.1_Missense_Mutation_p.E432Q|ITGA6_uc002uho.1_Missense_Mutation_p.E551Q|ITGA6_uc010fqm.1_Missense_Mutation_p.E197Q NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 590 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ATATACTCAAGAACTAACTCT 0.443 29 81 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098968 178098968 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:178098968T>G uc002ulh.3 - 2 632 c.77A>C c.(76-78)CAA>CCA p.Q26P NFE2L2_uc002ulg.3_Missense_Mutation_p.Q10P|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q10P|NFE2L2_uc002uli.3_Missense_Mutation_p.Q10P|NFE2L2_uc010fra.2_Missense_Mutation_p.Q10P|NFE2L2_uc010frb.2_Missense_Mutation_p.Q10P NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 26 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ATCTATATCTTGCCTCCAAAG 0.348 Mis NSCLC|HNSCC HNSCC(56;0.16) 16 73 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179238668 179238668 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179238668G>A uc002ulx.2 + 15 1825 c.1447G>A c.(1447-1449)GAG>AAG p.E483K OSBPL6_uc002ulw.2_Missense_Mutation_p.E416K|OSBPL6_uc002uly.2_Missense_Mutation_p.E508K|OSBPL6_uc010zfe.1_Missense_Mutation_p.E452K|OSBPL6_uc002ulz.2_Missense_Mutation_p.E447K|OSBPL6_uc002uma.2_Missense_Mutation_p.E487K NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 483 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGTAGCCAATGAGAGCCGCCT 0.483 27 98 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179400936 179400936 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179400936G>A uc010zfg.1 - 306 93058 c.92834C>T c.(92833-92835)GCT>GTT p.A30945V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24640V|TTN_uc010zfi.1_Missense_Mutation_p.A24573V|TTN_uc010zfj.1_Missense_Mutation_p.A24448V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31872 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACCAAGGTAGCATTGCTCTG 0.393 9 37 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179402377 179402377 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179402377C>T uc010zfg.1 - 304 92077 c.91853G>A c.(91852-91854)AGT>AAT p.S30618N uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24313N|TTN_uc010zfi.1_Missense_Mutation_p.S24246N|TTN_uc010zfj.1_Missense_Mutation_p.S24121N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31545 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGAAGCTTACTACTGGTTTC 0.463 16 69 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431323 179431323 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179431323G>A uc010zfg.1 - 275 72056 c.71832C>T c.(71830-71832)ATC>ATT p.I23944I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I17639I|TTN_uc010zfi.1_Silent_p.I17572I|TTN_uc010zfj.1_Silent_p.I17447I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24871 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGCCATCATAGATGGGTTTAC 0.443 81 269 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179443940 179443940 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179443940G>T uc010zfg.1 - 269 60337 c.60113C>A c.(60112-60114)ACA>AAA p.T20038K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13733K|TTN_uc010zfi.1_Missense_Mutation_p.T13666K|TTN_uc010zfj.1_Missense_Mutation_p.T13541K|uc002umv.1_Missense_Mutation_p.V56L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20965 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATAAGAGTTGTGTTAACCGC 0.438 77 110 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179444806 179444806 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179444806G>T uc010zfg.1 - 267 59728 c.59504C>A c.(59503-59505)ACA>AAA p.T19835K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13530K|TTN_uc010zfi.1_Missense_Mutation_p.T13463K|TTN_uc010zfj.1_Missense_Mutation_p.T13338K|uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20762 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTGTCACTGTAGACCAGGA 0.443 60 169 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179479049 179479049 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179479049C>G uc010zfg.1 - 211 41595 c.41371G>C c.(41371-41373)GAC>CAC p.D13791H uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.D7486H|TTN_uc010zfi.1_Missense_Mutation_p.D7419H|TTN_uc010zfj.1_Missense_Mutation_p.D7294H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14718 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGTGATGTCAAAGGCAGCT 0.393 20 72 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179532008 179532008 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179532008G>C uc010zfk.1 - 8 822 c.274C>G c.(274-276)CCA>GCA p.P92A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCTCAGGTGGCTCCACCTCT 0.338 3 18 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605624 179605624 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:179605624C>T uc010zfh.1 - 46 12047 c.11823G>A c.(11821-11823)CAG>CAA p.Q3941Q TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.Q3874Q|TTN_uc010zfj.1_Silent_p.Q3749Q|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGCAATTCCTGAGCTCCCA 0.413 40 136 --- --- --- --- PASS ZNF385B 151126 broad.mit.edu 37 2 180310440 180310440 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:180310440G>T uc002unn.3 - 8 1536 c.932C>A c.(931-933)ACC>AAC p.T311N ZNF385B_uc002unj.2_Missense_Mutation_p.T209N|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.T208N|ZNF385B_uc002unm.2_Missense_Mutation_p.T235N NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 311 Matrin-type 3. nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TTCAACCATGGTCTTGTGTTT 0.388 31 97 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180810308 180810308 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:180810308C>T uc010frh.1 - 20 2575 c.2275G>A c.(2275-2277)GAG>AAG p.E759K CWC22_uc002uno.2_Missense_Mutation_p.E281K|CWC22_uc002unp.2_Missense_Mutation_p.E759K NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 759 catalytic step 2 spliceosome protein binding|RNA binding 0 CTTTCTCTCTCAGTCCTTGTT 0.373 27 148 --- --- --- --- PASS ITGA4 3676 broad.mit.edu 37 2 182363449 182363449 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:182363449G>A uc002unu.2 + 15 2403 c.1640G>A c.(1639-1641)AGC>AAC p.S547N ITGA4_uc010frj.1_Missense_Mutation_p.S29N NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 547 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTACAGGAAGCATACAGGTG 0.368 55 80 --- --- --- --- PASS NEUROD1 4760 broad.mit.edu 37 2 182543437 182543437 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:182543437C>A uc002uof.2 - 2 387 c.151G>T c.(151-153)GAC>TAC p.D51Y CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 51 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CTCAGTGAGTCCTCCTCTGCG 0.408 6 20 --- --- --- --- PASS NCKAP1 10787 broad.mit.edu 37 2 183902800 183902800 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:183902800G>A uc002upc.2 - 1 430 c.28C>T c.(28-30)CAG>TAG p.Q10* NCKAP1_uc002upb.2_Nonsense_Mutation_p.Q10* NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 10 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AGCTTCTGCTGACTGGGCTGC 0.507 5 23 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802654 185802654 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:185802654C>T uc002uph.2 + 4 3125 c.2531C>T c.(2530-2532)CCT>CTT p.P844L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 844 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TCCTTAAATCCTCTGGATAGG 0.358 31 46 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189899670 189899670 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:189899670C>G uc002uqk.2 - 53 4600 c.4325G>C c.(4324-4326)CGG>CCG p.R1442P COL5A2_uc010frx.2_Missense_Mutation_p.R1018P NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1442 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AACGATATACCGGAATCTAAT 0.348 20 123 --- --- --- --- PASS ASNSD1 54529 broad.mit.edu 37 2 190532308 190532308 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:190532308C>T uc002uqt.2 + 4 1884 c.1450C>T c.(1450-1452)CAG>TAG p.Q484* NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 484 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GAAATCCTATCAGAGCAATGC 0.408 58 213 --- --- --- --- PASS STAT1 6772 broad.mit.edu 37 2 191862686 191862686 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:191862686G>T uc002usj.2 - 9 1069 c.681C>A c.(679-681)ACC>ACA p.T227T STAT1_uc010fse.1_Silent_p.T227T|STAT1_uc002usk.2_Silent_p.T227T|STAT1_uc002usl.2_Silent_p.T229T|STAT1_uc010fsf.1_Silent_p.T39T NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 227 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GGGCATTCTGGGTAAGTTCAG 0.423 20 81 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196664154 196664154 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:196664154G>T uc002utj.3 - 55 10320 c.10219C>A c.(10219-10221)CGT>AGT p.R3407S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3407 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATGAATGCACGTCCCAATCTG 0.413 59 91 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197092865 197092865 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:197092865A>G uc002utm.1 - 22 4061 c.3878T>C c.(3877-3879)ATA>ACA p.I1293T HECW2_uc002utl.1_Missense_Mutation_p.I937T NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1293 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CATAGGACTTATTTGTACTGT 0.353 69 79 --- --- --- --- PASS SF3B1 23451 broad.mit.edu 37 2 198288681 198288681 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:198288681G>A uc002uue.2 - 2 94 c.46C>T c.(46-48)CGA>TGA p.R16* SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Nonsense_Mutation_p.R16*|SF3B1_uc002uug.2_Nonsense_Mutation_p.R16* NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 16 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGAATTTCTCGAATCTGTGCT 0.373 20 73 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201477417 201477417 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:201477417G>A uc002uvx.2 + 14 1450 c.1349G>A c.(1348-1350)GGA>GAA p.G450E AOX1_uc010zhf.1_Missense_Mutation_p.G6E|AOX1_uc010fsu.2_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 450 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTCTTTTTTGGAGAAGGGGAT 0.473 51 70 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202569893 202569893 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:202569893C>T uc002uyo.2 - 31 5013 c.4657G>A c.(4657-4659)GCC>ACC p.A1553T ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 1553 VPS9. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 ACTGCTGAGGCAAAACAAGCA 0.358 14 43 --- --- --- --- PASS NDUFS1 4719 broad.mit.edu 37 2 207017163 207017163 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:207017163G>C uc002vbe.2 - 3 260 c.133C>G c.(133-135)CCG>GCG p.P45A NDUFS1_uc010ziq.1_Missense_Mutation_p.P59A|NDUFS1_uc010zir.1_Missense_Mutation_p.P45A|NDUFS1_uc010zis.1_Intron|NDUFS1_uc010zit.1_Intron|NDUFS1_uc010ziu.1_Intron NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 45 2Fe-2S ferredoxin-type. apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GTCGTTCCCGGTTCCACCATG 0.368 27 116 --- --- --- --- PASS PLEKHM3 389072 broad.mit.edu 37 2 208866341 208866341 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:208866341T>A uc002vcl.2 - 2 513 c.23A>T c.(22-24)GAT>GTT p.D8V PLEKHM3_uc002vcm.2_Missense_Mutation_p.D8V NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 8 intracellular signal transduction metal ion binding ovary(1) 1 TGGGCTGATATCATCCACTTC 0.478 90 110 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 210888807 210888807 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:210888807C>A uc002vds.2 - 14 2891 c.2683G>T c.(2683-2685)GAT>TAT p.D895Y C2orf67_uc002vdt.2_Missense_Mutation_p.D853Y NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 895 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) GCACACAGATCCTGGTTCTCT 0.403 28 90 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212566848 212566848 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:212566848G>A uc002veg.1 - 12 1431 c.1333C>T c.(1333-1335)CTA>TTA p.L445L ERBB4_uc002veh.1_Silent_p.L445L|ERBB4_uc010zji.1_Silent_p.L445L|ERBB4_uc010zjj.1_Silent_p.L445L|ERBB4_uc010fut.1_Silent_p.L445L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 445 Extracellular (Potential). 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 lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 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) TGGAACTGTAGAGAGGTGATG 0.448 TSP Lung(8;0.080) 39 120 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216247016 216247016 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:216247016G>T uc002vfa.2 - 32 5349 c.5083C>A c.(5083-5085)CCC>ACC p.P1695T FN1_uc002vfb.2_Missense_Mutation_p.P1604T|FN1_uc002vfc.2_Missense_Mutation_p.P1604T|FN1_uc002vfd.2_Missense_Mutation_p.P1695T|FN1_uc002vfe.2_Missense_Mutation_p.P1604T|FN1_uc002vff.2_Missense_Mutation_p.P1604T|FN1_uc002vfg.2_Missense_Mutation_p.P1604T|FN1_uc002vfh.2_Missense_Mutation_p.P1604T|FN1_uc002vfi.2_Missense_Mutation_p.P1695T|FN1_uc002vfj.2_Missense_Mutation_p.P1695T|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.P322T|FN1_uc010fvc.1_Missense_Mutation_p.P57T|FN1_uc010fvd.1_Missense_Mutation_p.P57T NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1694 Fibronectin type-III 12; extra domain. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCACTGTGGGCTGCAAGCCT 0.473 33 41 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216285475 216285475 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:216285475G>C uc002vfa.2 - 11 1862 c.1596C>G c.(1594-1596)CAC>CAG p.H532Q FN1_uc002vfb.2_Missense_Mutation_p.H532Q|FN1_uc002vfc.2_Missense_Mutation_p.H532Q|FN1_uc002vfd.2_Missense_Mutation_p.H532Q|FN1_uc002vfe.2_Missense_Mutation_p.H532Q|FN1_uc002vff.2_Missense_Mutation_p.H532Q|FN1_uc002vfg.2_Missense_Mutation_p.H532Q|FN1_uc002vfh.2_Missense_Mutation_p.H532Q|FN1_uc002vfi.2_Missense_Mutation_p.H532Q|FN1_uc002vfj.2_Missense_Mutation_p.H532Q|FN1_uc002vfl.2_Missense_Mutation_p.H532Q NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 532 Collagen-binding.|Fibronectin type-I 8. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATGACGCTTGTGGAATGTGT 0.473 21 80 --- --- --- --- PASS STK36 27148 broad.mit.edu 37 2 219544402 219544402 + Missense_Mutation SNP C T T rs138126812 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:219544402C>T uc002viu.2 + 8 1164 c.898C>T c.(898-900)CGC>TGC p.R300C STK36_uc002viv.2_Missense_Mutation_p.R300C NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 300 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TAATCAGTCTCGCATCTTGAC 0.562 14 45 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220162770 220162770 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:220162770C>A uc002vkz.2 - 13 1813 c.1724G>T c.(1723-1725)CGC>CTC p.R575L PTPRN_uc010zlc.1_Missense_Mutation_p.R485L|PTPRN_uc002vla.2_Missense_Mutation_p.R546L NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 575 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CAGCACTGAGCGCATGGGTGA 0.637 3 88 --- --- --- --- PASS AP1S3 130340 broad.mit.edu 37 2 224642556 224642556 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:224642556C>T uc010fwx.1 - 2 186 c.34G>A c.(34-36)GGG>AGG p.G12R AP1S3_uc002vnn.2_Missense_Mutation_p.G12R|AP1S3_uc010fww.2_RNA|AP1S3_uc002vno.2_RNA NM_001039569 NP_001034658 Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 12 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity 0 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) CGTAATTTCCCTTGTCGACTG 0.428 22 90 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225710006 225710006 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:225710006G>C uc010fwz.1 - 21 2634 c.2395C>G c.(2395-2397)CAG>GAG p.Q799E DOCK10_uc002vob.2_Missense_Mutation_p.Q793E NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 799 DHR-1. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GAAGCTATCTGATCGTGTTTC 0.368 4 18 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226516161 226516161 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:226516161C>A uc002voe.2 + 6 2017 c.1842C>A c.(1840-1842)AGC>AGA p.S614R KIAA1486_uc010fxa.1_3'UTR|KIAA1486_uc002vof.1_Missense_Mutation_p.S384R NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 614 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CTAAAGTAAGCTGCAAATTAG 0.483 106 142 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882159 228882159 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:228882159C>T uc002vpq.2 - 7 3458 c.3411G>A c.(3409-3411)ATG>ATA p.M1137I SPHKAP_uc002vpp.2_Missense_Mutation_p.M1137I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M1137I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1137 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTTCATTTTCCATCTGGTTCA 0.537 40 37 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884681 228884681 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:228884681G>T uc002vpq.2 - 7 936 c.889C>A c.(889-891)CAG>AAG p.Q297K SPHKAP_uc002vpp.2_Missense_Mutation_p.Q297K|SPHKAP_uc010zlx.1_Missense_Mutation_p.Q297K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 297 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTAGACTCTGCAAGGCTGTG 0.418 87 348 --- --- --- --- PASS DNER 92737 broad.mit.edu 37 2 230312225 230312225 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:230312225C>A uc002vpv.2 - 8 1440 c.1293G>T c.(1291-1293)GTG>GTT p.V431V DNER_uc010zly.1_Silent_p.V159V NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 431 Extracellular (Potential).|EGF-like 6. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CGCAGGGGTCCACCTTTTCTT 0.488 19 43 --- --- --- --- PASS COPS7B 64708 broad.mit.edu 37 2 232653351 232653351 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:232653351G>C uc002vsg.1 + 2 174 c.71G>C c.(70-72)GGC>GCC p.G24A COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsh.1_Missense_Mutation_p.G24A|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank NM_022730 NP_073567 Q9H9Q2 CSN7B_HUMAN COP9 constitutive photomorphogenic homolog 24 cullin deneddylation cytoplasm|signalosome ovary(1)|liver(1)|skin(1) 3 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GGTACCAGTGGCTCAGCCCTC 0.498 26 71 --- --- --- --- PASS ECEL1 9427 broad.mit.edu 37 2 233349770 233349770 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:233349770C>T uc002vsv.2 - 4 1092 c.887G>A c.(886-888)CGA>CAA p.R296Q ECEL1_uc010fya.1_Missense_Mutation_p.R296Q|ECEL1_uc010fyb.1_Missense_Mutation_p.R3Q NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 296 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCTGAGCACTCGCTCCATGAA 0.642 16 64 --- --- --- --- PASS UGT1A10 54575 broad.mit.edu 37 2 234545255 234545255 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:234545255G>C uc002vur.2 + 1 133 c.87G>C c.(85-87)CTG>CTC p.L29L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.L29L NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 29 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) GGAAGCTGCTGGTAGTGCCCA 0.577 35 122 --- --- --- --- PASS SH3BP4 23677 broad.mit.edu 37 2 235951264 235951264 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:235951264C>G uc002vvp.2 + 4 2244 c.1851C>G c.(1849-1851)ATC>ATG p.I617M SH3BP4_uc010fym.2_Missense_Mutation_p.I617M|SH3BP4_uc002vvq.2_Missense_Mutation_p.I617M NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 617 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AAAGTGCCATCAAGCCTTCCG 0.547 24 73 --- --- --- --- PASS CXCR7 57007 broad.mit.edu 37 2 237489155 237489155 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:237489155A>T uc010fyq.2 + 3 277 c.47A>T c.(46-48)GAC>GTC p.D16V CXCR7_uc002vwd.2_Missense_Mutation_p.D16V NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 16 Extracellular (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) AACTTCTCGGACATCAGCTGG 0.517 8 67 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 239988490 239988490 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:239988490G>A uc002vyk.3 - 24 3708 c.2916C>T c.(2914-2916)CTC>CTT p.L972L HDAC4_uc010fyy.2_Silent_p.L929L NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 972 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GGCCTCCCTCGAGGGCCAGGA 0.632 22 57 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241685277 241685277 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:241685277C>A uc002vzy.2 - 29 3095 c.2949G>T c.(2947-2949)CTG>CTT p.L983L KIF1A_uc010fzk.2_Silent_p.L1084L|KIF1A_uc002vzz.1_Silent_p.L1084L NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 983 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGGGCCCATCCAGGGCGGCTT 0.612 7 19 --- --- --- --- PASS PASK 23178 broad.mit.edu 37 2 242078087 242078087 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:242078087C>A uc002wao.1 - 5 815 c.723G>T c.(721-723)TGG>TGT p.W241C PASK_uc010zol.1_Missense_Mutation_p.W55C|PASK_uc010zom.1_Missense_Mutation_p.W241C|PASK_uc010fzl.1_Missense_Mutation_p.W241C|PASK_uc010zon.1_Missense_Mutation_p.W22C|PASK_uc002waq.2_Missense_Mutation_p.W241C NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 241 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGAAAGCGACCCAGGTCGAGA 0.602 19 85 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242402762 242402762 + Missense_Mutation SNP G T T rs139762137 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:242402762G>T uc002wbi.1 + 16 1807 c.1690G>T c.(1690-1692)GCA>TCA p.A564S FARP2_uc010zoq.1_Missense_Mutation_p.A564S|FARP2_uc010zor.1_Missense_Mutation_p.A564S NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 564 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GTTCCGCAGCGCAGTGGTGAA 0.582 15 60 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242407695 242407695 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:242407695G>T uc002wbi.1 + 18 2151 c.2034G>T c.(2032-2034)CTG>CTT p.L678L NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 678 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ACACGTTCCTGCTGAAGCCCA 0.572 47 46 --- --- --- --- PASS NEU4 129807 broad.mit.edu 37 2 242758331 242758331 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr2:242758331C>A uc010fzr.2 + 4 1498 c.1412C>A c.(1411-1413)CCC>CAC p.P471H NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.P471H|NEU4_uc002wcn.1_Missense_Mutation_p.P483H|NEU4_uc002wco.1_Missense_Mutation_p.P471H|NEU4_uc002wcp.1_Missense_Mutation_p.P483H NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 471 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCCAAGCCGCCCAACCTTGGG 0.642 9 19 --- --- --- --- PASS ITPR1 3708 broad.mit.edu 37 3 4808361 4808361 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:4808361G>C uc003bqa.2 + 42 5896 c.5548G>C c.(5548-5550)GAG>CAG p.E1850Q ITPR1_uc010hca.1_Missense_Mutation_p.E1835Q|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E820Q NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 1898 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GAAAGACGATGAGGTAGACAG 0.438 24 35 --- --- --- --- PASS IRAK2 3656 broad.mit.edu 37 3 10283900 10283900 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:10283900C>G uc003bve.1 + 13 1942 c.1866C>G c.(1864-1866)CTC>CTG p.L622L NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 622 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 GCATTGAGCTCTTTGGCCCCT 0.448 20 64 --- --- --- --- PASS SLC6A1 6529 broad.mit.edu 37 3 11072947 11072947 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:11072947T>A uc010hdq.2 + 13 1819 c.1408T>A c.(1408-1410)TCT>ACT p.S470T NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 470 Helical; Name=10; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TGAATGTGTCTCTATTTCCTG 0.378 107 82 --- --- --- --- PASS BTD 686 broad.mit.edu 37 3 15686066 15686066 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:15686066C>T uc003cah.2 + 4 806 c.703C>T c.(703-705)CCC>TCC p.P235S BTD_uc011avv.1_Missense_Mutation_p.P237S|BTD_uc011avw.1_Missense_Mutation_p.P237S|BTD_uc011avx.1_Missense_Mutation_p.P215S NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 235 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 CTTTGATACCCCCTTTGCTGG 0.448 39 61 --- --- --- --- PASS THRB 7068 broad.mit.edu 37 3 24188169 24188169 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:24188169C>T uc003ccx.3 - 7 878 c.529G>A c.(529-531)GAT>AAT p.D177N THRB_uc010hfe.2_Missense_Mutation_p.D177N|THRB_uc003ccy.3_Missense_Mutation_p.D177N|THRB_uc003ccz.3_Missense_Mutation_p.D172N NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 177 Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) TACTTACAATCTGTTGCCATG 0.408 32 73 --- --- --- --- PASS NEK10 152110 broad.mit.edu 37 3 27329226 27329226 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:27329226A>C uc003cdt.1 - 21 2026 c.1752T>G c.(1750-1752)CAT>CAG p.H584Q NEK10_uc003cds.1_5'UTR NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 584 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 CAATGTTGGGATGATAAAGCT 0.264 9 33 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38770276 38770276 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:38770276A>T uc003ciq.2 - 15 2397 c.2397T>A c.(2395-2397)TTT>TTA p.F799L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 799 Helical; Name=S5 of repeat II; (Potential).|II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GAGCAAAGACAAAGACAATGA 0.532 54 28 --- --- --- --- PASS ZNF501 115560 broad.mit.edu 37 3 44776538 44776538 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:44776538G>A uc003cnu.1 + 3 1026 c.625G>A c.(625-627)GAA>AAA p.E209K ZNF501_uc003cnv.1_Missense_Mutation_p.M152I NM_145044 NP_659481 Q96CX3 ZN501_HUMAN zinc finger protein 501 209 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TGTTGAACATGAAAGGACTCA 0.418 19 57 --- --- --- --- PASS CCR1 1230 broad.mit.edu 37 3 46245770 46245770 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:46245770G>T uc003cph.1 - 2 106 c.35C>A c.(34-36)ACG>AAG p.T12K CCR3_uc003cpg.1_Intron NM_001295 NP_001286 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 12 Extracellular (Potential). cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity skin(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTCTGTGGTCGTGTCATAGTC 0.483 25 11 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48607181 48607181 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:48607181T>C uc003ctz.2 - 100 7535 c.7534A>G c.(7534-7536)AGT>GGT p.S2512G NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2512 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGTCCTGCACTCCCAACATCA 0.602 16 51 --- --- --- --- PASS DALRD3 55152 broad.mit.edu 37 3 49055175 49055175 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:49055175C>G uc003cvk.1 - 3 609 c.589G>C c.(589-591)GAA>CAA p.E197Q DALRD3_uc003cvl.1_Missense_Mutation_p.E197Q|DALRD3_uc003cvm.1_Missense_Mutation_p.E30Q|DALRD3_uc010hko.1_Missense_Mutation_p.E30Q|DALRD3_uc011bca.1_Missense_Mutation_p.E197Q|NDUFAF3_uc003cvn.2_5'Flank NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 197 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTAAGTTCTTCAAGGGCGTGG 0.622 22 38 --- --- --- --- PASS HYAL3 8372 broad.mit.edu 37 3 50330709 50330709 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:50330709C>G uc003czd.1 - 4 1495 c.1222G>C c.(1222-1224)GAG>CAG p.E408Q HYAL3_uc003czc.1_Missense_Mutation_p.E378Q|HYAL3_uc003cze.1_Missense_Mutation_p.E159Q|HYAL3_uc003czf.1_Missense_Mutation_p.E129Q|HYAL3_uc003czg.1_Missense_Mutation_p.E378Q|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 408 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGCCTGGGCTCCTGGCAGGTG 0.587 25 78 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52356682 52356682 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:52356682G>T uc011bef.1 + 2 485 c.224G>T c.(223-225)GGG>GTG p.G75V DNAH1_uc003ddt.1_Missense_Mutation_p.G75V NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 75 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCAGACTTGGGGCAGCCACGG 0.582 17 12 --- --- --- --- PASS DNAH12 201625 broad.mit.edu 37 3 57488140 57488140 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:57488140G>A uc003dit.2 - 10 1334 c.1153C>T c.(1153-1155)CCT>TCT p.P385S DNAH12_uc003diu.2_Missense_Mutation_p.P385S NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN dynein heavy chain domain 2 isoform 1 385 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity pancreas(1)|skin(1) 2 ACGTGTTCAGGAAGTTCTGTG 0.388 72 50 --- --- --- --- PASS PXK 54899 broad.mit.edu 37 3 58377548 58377548 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:58377548C>G uc003djz.1 + 7 688 c.589C>G c.(589-591)CTA>GTA p.L197V PXK_uc003djx.1_Missense_Mutation_p.L197V|PXK_uc003djy.1_Missense_Mutation_p.L180V|PXK_uc003dka.1_Missense_Mutation_p.L197V|PXK_uc003dkb.1_Missense_Mutation_p.L114V|PXK_uc003dkc.1_Missense_Mutation_p.L180V|PXK_uc011bfe.1_Missense_Mutation_p.L164V|PXK_uc010hnj.1_Missense_Mutation_p.L164V|PXK_uc003dkd.1_Missense_Mutation_p.L60V|PXK_uc010hnk.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 197 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TTTTCAGTGTCTAATCAAACT 0.388 25 132 --- --- --- --- PASS C3orf67 200844 broad.mit.edu 37 3 58849464 58849464 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:58849464C>T uc003dkt.1 - 12 1447 c.1038G>A c.(1036-1038)CAG>CAA p.Q346Q C3orf67_uc003dks.1_Silent_p.Q161Q|uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.Q161Q|C3orf67_uc003dkw.2_Silent_p.Q241Q NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 346 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TTGGAACACTCTGGGATTCCT 0.493 21 107 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73453457 73453457 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:73453457C>G uc003dpl.1 - 4 1104 c.1008G>C c.(1006-1008)TTG>TTC p.L336F PDZRN3_uc011bgh.1_5'UTR|PDZRN3_uc010hoe.1_Missense_Mutation_p.L34F|PDZRN3_uc011bgf.1_Missense_Mutation_p.L53F|PDZRN3_uc011bgg.1_Missense_Mutation_p.L56F NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 336 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GTGTTCTTCTCAACACCTGCA 0.512 34 78 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89390085 89390085 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:89390085C>T uc003dqy.2 + 4 1059 c.834C>T c.(832-834)TAC>TAT p.Y278Y EPHA3_uc003dqx.1_Silent_p.Y278Y|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 278 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAGGTTTCTACAAGGCATTGG 0.363 TSP Lung(6;0.00050) 53 80 --- --- --- --- PASS PROS1 5627 broad.mit.edu 37 3 93615477 93615477 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:93615477G>A uc003drb.3 - 9 1249 c.908C>T c.(907-909)GCG>GTG p.A303V PROS1_uc010hoo.2_Missense_Mutation_p.A172V|PROS1_uc003dqz.3_Missense_Mutation_p.A172V NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 303 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AAACTGCTCCGCCAAGTAAAG 0.358 47 202 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97194254 97194254 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:97194254C>A uc010how.1 + 8 1996 c.1953C>A c.(1951-1953)GGC>GGA p.G651G EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Silent_p.G17G|EPHA6_uc003drs.3_Silent_p.G43G|EPHA6_uc003drr.3_Silent_p.G43G|EPHA6_uc003drt.2_Silent_p.G43G|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 556 Helical; (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CCGCTGTTGGCGGATTCACTC 0.428 7 21 --- --- --- --- PASS NIT2 56954 broad.mit.edu 37 3 100065092 100065092 + Silent SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:100065092A>C uc003dtv.2 + 6 572 c.498A>C c.(496-498)GCA>GCC p.A166A NIT2_uc011bha.1_Missense_Mutation_p.H135P NM_020202 NP_064587 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 166 CN hydrolase. nitrogen compound metabolic process omega-amidase activity ovary(1) 1 AAATCTACGCACAGAGAGGTG 0.483 19 26 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105264115 105264115 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:105264115G>T uc003dvx.2 + 9 1580 c.1040G>T c.(1039-1041)GGT>GTT p.G347V ALCAM_uc003dvw.1_Missense_Mutation_p.G347V|ALCAM_uc003dvy.2_Missense_Mutation_p.G347V|ALCAM_uc011bhh.1_3'UTR|ALCAM_uc010hpp.2_Missense_Mutation_p.G69V|ALCAM_uc003dvz.2_5'UTR NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 347 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 AGACAGATTGGTGATGCCCTA 0.408 36 69 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108406926 108406926 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:108406926G>A uc003dxd.2 + 29 3675 c.3253G>A c.(3253-3255)GAC>AAC p.D1085N DZIP3_uc003dxf.1_Missense_Mutation_p.D1085N|DZIP3_uc011bhm.1_Missense_Mutation_p.D536N NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 1085 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCAGTTTATTGACCCCAAAAA 0.348 20 81 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108788596 108788596 + Missense_Mutation SNP G T T rs148630097 by1000genomes TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:108788596G>T uc003dxl.2 - 9 785 c.698C>A c.(697-699)GCG>GAG p.A233E MORC1_uc011bhn.1_Missense_Mutation_p.A233E NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 233 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.A233V(2) ovary(3)|skin(3)|breast(2) 8 TGACCACCTCGCTGGGAAACT 0.348 23 61 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109023453 109023453 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:109023453C>A uc003dxo.2 - 7 970 c.723G>T c.(721-723)CTG>CTT p.L241L NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 241 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CATGAAACTGCAGGCGTACCC 0.507 33 58 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119133799 119133799 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:119133799G>C uc003ecj.3 + 12 3555 c.3023G>C c.(3022-3024)AGA>ACA p.R1008T NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1008 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 AGGTCCTTCAGAGAGTTCTCT 0.552 18 48 --- --- --- --- PASS KTELC1 56983 broad.mit.edu 37 3 119211167 119211167 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:119211167A>T uc003ecm.2 + 11 1145 c.1061A>T c.(1060-1062)GAC>GTC p.D354V KTELC1_uc011bja.1_Missense_Mutation_p.D195V NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 354 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) CAGATGGATGACATCACCTGT 0.328 61 80 --- --- --- --- PASS C3orf15 89876 broad.mit.edu 37 3 119466000 119466000 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:119466000A>G uc003ede.3 + 15 2018 c.1941A>G c.(1939-1941)CTA>CTG p.L647L C3orf15_uc010hqz.2_Silent_p.L585L|C3orf15_uc011bjd.1_Silent_p.L521L|C3orf15_uc011bje.1_Silent_p.L627L|C3orf15_uc003edg.3_5'Flank NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 483 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) GCTCCTACCTAGAAGACATAA 0.368 27 91 --- --- --- --- PASS ADCY5 111 broad.mit.edu 37 3 123046520 123046520 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:123046520T>A uc003egh.1 - 7 1892 c.1892A>T c.(1891-1893)TAC>TTC p.Y631F ADCY5_uc003egg.1_Missense_Mutation_p.Y264F|ADCY5_uc003egi.1_Missense_Mutation_p.Y190F NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 631 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CTCCTTGAGGTAGGCGTTGCG 0.642 12 50 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379811 127379811 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:127379811G>T uc003ejq.2 + 3 964 c.940G>T c.(940-942)GCT>TCT p.A314S NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 314 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 TCAAACCACAGCTCCCAGTGG 0.612 28 87 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133494302 133494302 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:133494302G>A uc003epu.1 + 20 3441 c.1713G>A c.(1711-1713)AAG>AAA p.K571K TF_uc011blt.1_Silent_p.K444K|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.K571K NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 571 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CATGGGCTAAGAATCTGAATG 0.527 35 115 --- --- --- --- PASS ANAPC13 25847 broad.mit.edu 37 3 134197492 134197492 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:134197492C>T uc003eqi.2 - 3 262 c.165G>A c.(163-165)ATG>ATA p.M55I ANAPC13_uc003eqj.2_RNA|ANAPC13_uc003eqk.3_RNA NM_015391 NP_056206 Q9BS18 APC13_HUMAN anaphase promoting complex subunit 13 55 cell division|mitosis|protein K11-linked ubiquitination anaphase-promoting complex skin(1) 1 CTGTCCACTTCATTTCTTGTT 0.418 31 105 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134873025 134873025 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:134873025C>G uc003eqt.2 + 6 1549 c.1329C>G c.(1327-1329)GTC>GTG p.V443V EPHB1_uc003equ.2_Silent_p.V4V NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 443 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGCACCAAGTCAGTGCCACTA 0.537 39 240 --- --- --- --- PASS SOX14 8403 broad.mit.edu 37 3 137483679 137483679 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:137483679G>T uc003erm.1 + 1 101 c.53G>T c.(52-54)TGG>TTG p.W18L NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 18 HMG box. negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 TTCATGGTATGGTCCCGGGGC 0.602 19 45 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140277540 140277540 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:140277540C>A uc003etn.2 + 12 2072 c.1882C>A c.(1882-1884)CTC>ATC p.L628I NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 628 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGTGATGGTCCTCCAGGCCAT 0.557 HNSCC(16;0.037) 26 86 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141164623 141164623 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:141164623C>A uc003etw.2 + 8 4375 c.3393C>A c.(3391-3393)CCC>CCA p.P1131P ZBTB38_uc010hun.2_Silent_p.P1128P|ZBTB38_uc010huo.2_Silent_p.P1131P|ZBTB38_uc003ety.2_Silent_p.P1131P|ZBTB38_uc010hup.2_Silent_p.P1132P NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1131 C2H2-type 10. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCCAGTGCCCCAAAATTTGCA 0.463 4 147 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681231 142681231 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:142681231G>C uc003evg.2 - 1 948 c.948C>G c.(946-948)ATC>ATG p.I316M PAQR9_uc003evf.1_RNA NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 316 Helical; (Potential). integral to membrane receptor activity 0 GGAAGGTGAAGATGTGGAAGA 0.607 25 93 --- --- --- --- PASS PLSCR2 57047 broad.mit.edu 37 3 146173175 146173175 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:146173175C>A uc003evv.1 - 5 505 c.172G>T c.(172-174)GCA>TCA p.A58S PLSCR2_uc003evw.1_Missense_Mutation_p.A127S NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 58 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 GTATCTTCTGCTGCAAAATAA 0.363 41 143 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147127995 147127995 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:147127995C>A uc003ewe.2 + 1 815 c.96C>A c.(94-96)GAC>GAA p.D32E NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 32 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCGAACGAGACGTGGGCCTGG 0.701 17 51 --- --- --- --- PASS CLRN1 7401 broad.mit.edu 37 3 150690483 150690483 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:150690483G>C uc003eyk.1 - 1 304 c.13C>G c.(13-15)CAG>GAG p.Q5E CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 5 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ATTTTCTTCTGTTGGCTTGGC 0.483 9 57 --- --- --- --- PASS MBNL1 4154 broad.mit.edu 37 3 152132854 152132854 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:152132854T>C uc003ezm.2 + 2 1088 c.299T>C c.(298-300)ATG>ACG p.M100T MBNL1_uc003ezh.2_Missense_Mutation_p.M100T|MBNL1_uc003ezi.2_Missense_Mutation_p.M100T|MBNL1_uc003ezj.2_Missense_Mutation_p.M43T|MBNL1_uc003ezl.2_Missense_Mutation_p.M100T|MBNL1_uc003ezp.2_Missense_Mutation_p.M100T|MBNL1_uc003ezn.2_Missense_Mutation_p.M100T|MBNL1_uc003ezo.2_Missense_Mutation_p.M100T|MBNL1_uc010hvp.2_Missense_Mutation_p.M8T NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 100 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCCCAGCAAATGCAACTAGCC 0.428 50 66 --- --- --- --- PASS SHOX2 6474 broad.mit.edu 37 3 157820615 157820615 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:157820615G>A uc003fbr.2 - 2 546 c.407C>T c.(406-408)ACC>ATC p.T136I SHOX2_uc003fbs.2_Missense_Mutation_p.T160I|SHOX2_uc010hvw.2_Missense_Mutation_p.T136I NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 136 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTTGATTTTGGTCTGGCCTTC 0.562 52 71 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164714433 164714433 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:164714433C>A uc003fei.2 - 40 4644 c.4582G>T c.(4582-4584)GCA>TCA p.A1528S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1528 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGATGTCTGCTCCAGTCTAA 0.303 HNSCC(35;0.089) 120 103 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164764675 164764675 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:164764675C>G uc003fei.2 - 16 1903 c.1841G>C c.(1840-1842)TGG>TCG p.W614S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 614 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGTTATAGACCATTCCATTTG 0.383 HNSCC(35;0.089) 30 328 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164786965 164786965 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:164786965C>A uc003fei.2 - 4 336 c.274G>T c.(274-276)GGC>TGC p.G92C NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 92 Lumenal.|P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGCAGCAGCCTCTCTGTGCA 0.368 HNSCC(35;0.089) 12 142 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164905964 164905964 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:164905964T>C uc003fej.3 - 2 3099 c.2655A>G c.(2653-2655)CTA>CTG p.L885L SLITRK3_uc003fek.2_Silent_p.L885L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 885 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TCTCTCGATCTAGTAGCATAC 0.567 HNSCC(40;0.11) 16 192 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906343 164906343 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:164906343C>A uc003fej.3 - 2 2720 c.2276G>T c.(2275-2277)CGT>CTT p.R759L SLITRK3_uc003fek.2_Missense_Mutation_p.R759L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 759 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CTCCTCCTCACGAGGCTTGTA 0.577 HNSCC(40;0.11) 32 266 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167045853 167045853 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:167045853G>C uc003fep.2 - 11 1062 c.739C>G c.(739-741)CTG>GTG p.L247V ZBBX_uc011bpc.1_Missense_Mutation_p.L247V|ZBBX_uc003feq.2_Missense_Mutation_p.L218V NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 247 intracellular zinc ion binding ovary(2) 2 TCACACAACAGACTCTTTCTT 0.363 53 449 --- --- --- --- PASS SKIL 6498 broad.mit.edu 37 3 170079108 170079108 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:170079108A>T uc003fgu.2 + 2 1701 c.989A>T c.(988-990)CAT>CTT p.H330L SKIL_uc011bps.1_Missense_Mutation_p.H310L|SKIL_uc003fgv.2_Missense_Mutation_p.H330L|SKIL_uc003fgw.2_Missense_Mutation_p.H330L NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 330 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGCTATCTTCATGTGAACCAA 0.383 50 306 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G A A rs121913273 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|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). 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.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 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) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 77 122 --- --- --- --- PASS C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:184870595G>A uc003fpd.2 - 1 208 c.17C>T c.(16-18)TCG>TTG p.S6L NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 6 0 CGACGCCGGCGAGGCCGCCGC 0.716 8 101 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185169181 185169181 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:185169181C>G uc010hyf.2 + 8 1542 c.1276C>G c.(1276-1278)CAG>GAG p.Q426E MAP3K13_uc011brt.1_Missense_Mutation_p.Q219E|MAP3K13_uc003fph.3_Missense_Mutation_p.Q194E|MAP3K13_uc011bru.1_Missense_Mutation_p.Q282E|MAP3K13_uc003fpi.2_Missense_Mutation_p.Q426E|MAP3K13_uc010hyg.2_Missense_Mutation_p.Q116E NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 426 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CTTCAAGTCTCAGGTAAGTTG 0.423 84 112 --- --- --- --- PASS SENP2 59343 broad.mit.edu 37 3 185347593 185347593 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:185347593G>C uc003fpn.2 + 17 1902 c.1731G>C c.(1729-1731)AAG>AAC p.K577N SENP2_uc011brv.1_Missense_Mutation_p.K567N|SENP2_uc011brw.1_Missense_Mutation_p.K390N NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 577 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCTTCCGGAAGAAGATGGTGT 0.468 26 171 --- --- --- --- PASS AHSG 197 broad.mit.edu 37 3 186333536 186333536 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:186333536G>T uc003fqk.3 + 2 357 c.276G>T c.(274-276)CTG>CTT p.L92L AHSG_uc003fqj.2_Silent_p.L92L|AHSG_uc003fql.3_Silent_p.L92L|AHSG_uc003fqm.3_Silent_p.L91L|AHSG_uc010hyp.2_Intron NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 92 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCCATGTGCTGGACCCCACCC 0.567 113 49 --- --- --- --- PASS CCDC50 152137 broad.mit.edu 37 3 191075833 191075833 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:191075833G>A uc003fsw.2 + 3 749 c.159G>A c.(157-159)CAG>CAA p.Q53Q CCDC50_uc003fsv.2_Silent_p.Q53Q NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 53 cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) GTTTGGTCCAGCATGATCTCC 0.488 54 509 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194147892 194147892 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:194147892G>C uc003fty.3 - 28 3439 c.3037C>G c.(3037-3039)CAG>GAG p.Q1013E ATP13A3_uc003ftx.3_5'Flank NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 1013 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) ATGATAATCTGAGACAAAACG 0.413 14 175 --- --- --- --- PASS TNK2 10188 broad.mit.edu 37 3 195611843 195611843 + Missense_Mutation SNP C A A rs113498671 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:195611843C>A uc003fvu.1 - 4 839 c.296G>T c.(295-297)CGG>CTG p.R99L TNK2_uc003fvs.1_Missense_Mutation_p.R131L|TNK2_uc003fvt.1_Missense_Mutation_p.R162L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Missense_Mutation_p.R113L NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 99 SAM-like domain. R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation; undergoes autoactivation and causes phosphorylation on Tyr-284 leading to activation of AKT1). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R99Q(1)|p.R99R(1) ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CGAGGTCTTCCGGAAGGTGCT 0.642 21 164 --- --- --- --- PASS LRCH3 84859 broad.mit.edu 37 3 197566206 197566206 + Silent SNP G A A rs149928703 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:197566206G>A uc011bul.1 + 10 1271 c.1266G>A c.(1264-1266)AAG>AAA p.K422K LRCH3_uc003fyj.1_Silent_p.K422K|LRCH3_uc011bum.1_Silent_p.K394K|LRCH3_uc011bun.1_Silent_p.K268K|LRCH3_uc003fyk.2_Silent_p.K17K NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 422 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CACCAGTAAAGCCAGTAGCCA 0.328 99 89 --- --- --- --- PASS ZNF141 7700 broad.mit.edu 37 4 366586 366586 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:366586G>A uc003gaa.2 + 5 538 c.360G>A c.(358-360)TTG>TTA p.L120L ZNF141_uc003gab.2_Silent_p.L120L NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 120 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 GTAAAAGTTTGAATGAGTGTA 0.343 29 66 --- --- --- --- PASS SORCS2 57537 broad.mit.edu 37 4 7726979 7726979 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:7726979A>G uc003gkb.3 + 20 2710 c.2710A>G c.(2710-2712)ACC>GCC p.T904A SORCS2_uc011bwi.1_Missense_Mutation_p.T732A NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 904 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 CCCTAACCTCACCGTCTTCTA 0.622 19 22 --- --- --- --- PASS LAP3 51056 broad.mit.edu 37 4 17581491 17581491 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:17581491G>T uc003gph.1 + 2 309 c.147G>T c.(145-147)GTG>GTT p.V49V LAP3_uc010ieg.2_Silent_p.V49V NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 49 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 AAGATGATGTGCCACAGTTCA 0.373 39 34 --- --- --- --- PASS TBC1D19 55296 broad.mit.edu 37 4 26641807 26641807 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:26641807G>C uc003gsf.3 + 7 748 c.478G>C c.(478-480)GAG>CAG p.E160Q TBC1D19_uc010iew.2_Missense_Mutation_p.E160Q|TBC1D19_uc011bxu.1_Missense_Mutation_p.E95Q NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 160 intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) GGATTTTCTTGAGGTAGGTTC 0.204 26 69 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46043100 46043100 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:46043100G>A uc003gxb.2 - 9 1455 c.1303C>T c.(1303-1305)CGC>TGC p.R435C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 435 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGGCAATGCGTATGTGTATC 0.403 52 37 --- --- --- --- PASS SGCB 6443 broad.mit.edu 37 4 52894207 52894207 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:52894207C>A uc003gzj.2 - 5 740 c.680G>T c.(679-681)CGT>CTT p.R227L SGCB_uc011bzp.1_Missense_Mutation_p.R157L NM_000232 NP_000223 Q16585 SGCB_HUMAN sarcoglycan, beta 227 Extracellular (Potential).|Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma 0 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) TTCATTTCCACGCACAATAGC 0.338 77 51 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55593588 55593588 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:55593588A>T uc010igr.2 + 11 1741 c.1654A>T c.(1654-1656)ATG>TTG p.M552L KIT_uc010igs.2_Missense_Mutation_p.M548L|KIT_uc010igt.1_Missense_Mutation_p.M1L NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 552 Cytoplasmic (Potential). Missing (in GIST; somatic mutation).|Missing (in GIST; somatic mutation). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K550_K558del(33)|p.M552_W557del(19)|p.M552_Y553del(15)|p.P551_E554del(14)|p.P551_V555del(12)|p.M552_V555del(11)|p.K550_E554del(10)|p.P551_M552>L(9)|p.P551_Q556del(9)|p.M552_E554>K(7)|p.K550_V555del(6)|p.K550_V555>I(6)|p.M552_V559>I(5)|p.K550_Q556del(5)|p.M552_E554del(4)|p.K550_W557del(4)|p.M552_K558del(4)|p.M552_Q556del(4)|p.M552_D572del(4)|p.M552_Q556>K(4)|p.P551_V559del(3)|p.K550_V559del(3)|p.P551_Y553del(3)|p.P551_E554>H(3)|p.M552_E561>K(2)|p.P551_K558del(2)|p.L548_K558>Q(2)|p.M552_E554>I(2)|p.M552_K558>T(2)|p.M552V(2)|p.K550_K558>Q(2)|p.K550_E554>I(2)|p.P551_V569del(2)|p.M552L(2)|p.P551_M552del(2)|p.K550fs*6(2)|p.K550_W557>IL(2)|p.M552T(2)|p.M552_Q556>T(2)|p.P551_Q556>T(2)|p.K550_W557>QR(2)|p.Y547_K558>Q(2)|p.M552_V559>IT(1)|p.Q549_V555>I(1)|p.K550_V555>KTL(1)|p.M552_W557>Z(1)|p.K550_W557>IR(1)|p.P551_V559>I(1)|p.P551_W557>R(1)|p.K550_V560>L(1)|p.P551_V555>L(1)|p.M552_Y553>T(1)|p.M552_T574>TESA(1)|p.M552_I563del(1)|p.K550_W557>HR(1)|p.M552_V555>I(1)|p.M552_Q556>(1)|p.K550_Q556>L(1)|p.P551_Q556>HV(1)|p.P551_Y553>Q(1)|p.M552I(1)|p.P551_E561>Q(1)|p.K550_V555>QRI(1)|p.L548_E554>QK(1)|p.M552_V560del(1)|p.?(1)|p.P551_W557del(1)|p.M552_Y553>N(1)|p.K550_Y553del(1)|p.M552_K558>NE(1)|p.K550_Y568del(1)|p.K550_K558>G(1)|p.K550_W557>FL(1)|p.Q549_E554del(1)|p.M552K(1)|p.K550_V555>F(1)|p.P551_V569>L(1)|p.P551_V559del>L(1)|p.K550_Q556>II(1)|p.P551_V555>?(1)|p.M552_Y570del(1) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACAGAAACCCATGTATGAAGT 0.373 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 50 45 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55961110 55961110 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:55961110G>T uc003has.2 - 21 3132 c.2830C>A c.(2830-2832)CGA>AGA p.R944R KDR_uc003hat.1_Silent_p.R944R NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 944 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGACGGAATCGTGCCCCTTTG 0.433 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 55 27 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62758438 62758438 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:62758438A>G uc010ihh.2 + 7 1514 c.1341A>G c.(1339-1341)ACA>ACG p.T447T LPHN3_uc003hcq.3_Silent_p.T447T|LPHN3_uc003hcs.1_Silent_p.T276T NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 447 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTCGGACCACAACTTTGAGCC 0.483 59 47 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70160366 70160366 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:70160366C>T uc003hej.2 + 6 1431 c.1429C>T c.(1429-1431)CGA>TGA p.R477* UGT2B28_uc010ihr.2_3'UTR NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 477 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CAAACACCTTCGAGTTGCAGC 0.463 65 50 --- --- --- --- PASS NAP1L5 266812 broad.mit.edu 37 4 89618712 89618712 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:89618712G>T uc003hrx.2 - 1 312 c.194C>A c.(193-195)CCG>CAG p.P65Q HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron NM_153757 NP_715638 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 65 nucleosome assembly nucleus protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000181) GTCATTTTTCGGCTTTGGGGC 0.458 90 88 --- --- --- --- PASS PPP3CA 5530 broad.mit.edu 37 4 101950344 101950344 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:101950344C>G uc011cen.1 - 13 2023 c.1348G>C c.(1348-1350)GAG>CAG p.E450Q PPP3CA_uc003hvu.2_Intron|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Intron|PPP3CA_uc003hvs.2_Missense_Mutation_p.E383Q|PPP3CA_uc010ilk.2_Missense_Mutation_p.E218Q NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 450 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TCAATAGCCTCAACAGTAGCT 0.423 23 108 --- --- --- --- PASS TET2 54790 broad.mit.edu 37 4 106155127 106155127 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:106155127G>C uc003hxk.2 + 3 414 c.28G>C c.(28-30)GAG>CAG p.E10Q TET2_uc011cez.1_Missense_Mutation_p.E31Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E10Q|TET2_uc003hxi.1_Missense_Mutation_p.E10Q NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 10 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CAACCATGTTGAGGGCAACAG 0.483 Mis N|F MDS 29 28 --- --- --- --- PASS NDST3 9348 broad.mit.edu 37 4 118975437 118975437 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:118975437G>A uc003ibx.2 + 2 775 c.372G>A c.(370-372)ATG>ATA p.M124I NDST3_uc011cgf.1_Missense_Mutation_p.M124I|NDST3_uc003ibw.2_Missense_Mutation_p.M124I NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 124 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TAGACAAAATGAAAGGCAAAT 0.328 4 49 --- --- --- --- PASS PRSS12 8492 broad.mit.edu 37 4 119252905 119252905 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:119252905C>G uc003ica.1 - 4 984 c.937G>C c.(937-939)GAT>CAT p.D313H NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 313 SRCR 2. membrane scavenger receptor activity skin(1) 1 ACTTCTGCATCGGCATCATCC 0.498 4 63 --- --- --- --- PASS SEC24D 9871 broad.mit.edu 37 4 119653922 119653922 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:119653922G>C uc003ici.3 - 20 2914 c.2642C>G c.(2641-2643)TCT>TGT p.S881C SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.S882C|SEC24D_uc003ick.2_Missense_Mutation_p.S43C NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 881 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 GAAAAGCTGAGAGTCAGCCAC 0.488 5 80 --- --- --- --- PASS TRPC3 7222 broad.mit.edu 37 4 122846259 122846259 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:122846259G>C uc003ieg.2 - 3 1164 c.1090C>G c.(1090-1092)CTG>GTG p.L364V TRPC3_uc010inr.2_Missense_Mutation_p.L291V|TRPC3_uc003ief.2_Missense_Mutation_p.L291V|TRPC3_uc011cgl.1_Missense_Mutation_p.L28V NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 279 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 GCTGATTCCAGATCTCCATTC 0.473 76 58 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126371354 126371354 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:126371354A>G uc003ifj.3 + 9 9183 c.9183A>G c.(9181-9183)GCA>GCG p.A3061A FAT4_uc011cgp.1_Silent_p.A1359A|FAT4_uc003ifi.1_Silent_p.A539A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3061 Extracellular (Potential).|Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAGTCACTGCAAAGGATAAGG 0.403 30 29 --- --- --- --- PASS GYPA 2993 broad.mit.edu 37 4 145038082 145038082 + Silent SNP G C C rs140973108 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:145038082G>C uc003ijo.3 - 5 398 c.282C>G c.(280-282)CTC>CTG p.L94L GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.L61L|GYPA_uc003ijp.3_Silent_p.L62L|GYPA_uc010ioq.2_Silent_p.L81L|GYPA_uc010ior.2_Silent_p.L29L|GYPA_uc010ios.1_RNA NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor 94 Helical. L->I: Diminishes dimerization. interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) CAAAAATAATGAGTGTTATCT 0.348 37 115 --- --- --- --- PASS SLC10A7 84068 broad.mit.edu 37 4 147431098 147431098 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:147431098G>A uc010ioz.2 - 3 541 c.287C>T c.(286-288)TCA>TTA p.S96L SLC10A7_uc003ikr.2_Missense_Mutation_p.S96L|SLC10A7_uc010ipa.2_Missense_Mutation_p.S96L|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.S96L NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 96 integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) GGGTGTGATTGATAAAAGCTG 0.363 5 87 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158257696 158257696 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:158257696G>A uc003ipm.3 + 11 2100 c.1641G>A c.(1639-1641)TGG>TGA p.W547* GRIA2_uc011cit.1_Nonsense_Mutation_p.W500*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.W547*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.W500*|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 547 Helical; (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATGAGATCTGGATGTGCATTG 0.453 128 111 --- --- --- --- PASS MARCH1 55016 broad.mit.edu 37 4 164450146 164450146 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:164450146G>C uc003iqs.1 - 8 1601 c.624C>G c.(622-624)TTC>TTG p.F208L MARCH1_uc003iqr.1_Missense_Mutation_p.F191L NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 208 Helical; (Potential). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GACCTCCTGTGAAGCCAATGG 0.438 15 44 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169342981 169342981 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:169342981G>T uc003irq.3 - 17 2545 c.2324C>A c.(2323-2325)TCC>TAC p.S775Y DDX60L_uc003irr.1_Missense_Mutation_p.S775Y|DDX60L_uc003irs.1_Missense_Mutation_p.S502Y NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 775 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GCAGTAGTAGGAAGCATAGGT 0.488 14 162 --- --- --- --- PASS AADAT 51166 broad.mit.edu 37 4 170989782 170989782 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:170989782T>A uc003isr.2 - 8 1202 c.860A>T c.(859-861)CAC>CTC p.H287L AADAT_uc003iss.2_Missense_Mutation_p.H287L|AADAT_uc003ist.2_Missense_Mutation_p.H291L NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 287 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AACTTGTATGTGTAAAATAAC 0.318 66 70 --- --- --- --- PASS NEIL3 55247 broad.mit.edu 37 4 178260984 178260984 + Silent SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:178260984A>T uc003iut.2 + 5 792 c.675A>T c.(673-675)ATA>ATT p.I225I NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 225 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TGAAAATGATACGTGATTTCA 0.358 BER_DNA_glycosylases 24 36 --- --- --- --- PASS IRX2 153572 broad.mit.edu 37 5 2748758 2748758 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:2748758G>A uc003jda.2 - 3 1306 c.1064C>T c.(1063-1065)CCC>CTC p.P355L IRX2_uc003jdb.2_Missense_Mutation_p.P355L NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 355 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) ggcggccgcgggcagccccgg 0.498 10 5 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7717318 7717318 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:7717318G>C uc003jdz.1 + 12 1738 c.1671G>C c.(1669-1671)ATG>ATC p.M557I ADCY2_uc011cmo.1_Missense_Mutation_p.M377I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 557 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 ATGAAAGGATGATTCAAGCAA 0.284 19 234 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9227044 9227044 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:9227044C>A uc003jek.2 - 7 1081 c.369G>T c.(367-369)GTG>GTT p.V123V NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 123 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GGTCGCCACCCACCAGAAGCA 0.393 33 126 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629785 9629785 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:9629785C>A uc003jem.1 - 1 679 c.360G>T c.(358-360)ATG>ATT p.M120I NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 120 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TGGATATCCTCATCTTCAACC 0.453 27 64 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11384826 11384826 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:11384826C>A uc003jfa.1 - 7 1273 c.1128G>T c.(1126-1128)TCG>TCT p.S376S CTNND2_uc010itt.2_Silent_p.S285S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 376 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ACAGCTCCTGCGAGTGCTTGC 0.697 14 42 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13735261 13735261 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:13735261C>T uc003jfd.2 - 68 11782 c.11740G>A c.(11740-11742)GAG>AAG p.E3914K DNAH5_uc003jfc.2_Missense_Mutation_p.E82K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3914 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GTGAGAAACTCTTCATGCTTG 0.428 Kartagener_syndrome 45 163 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19544068 19544068 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:19544068C>T uc003jgc.2 - 8 1677 c.1300G>A c.(1300-1302)GAT>AAT p.D434N CDH18_uc003jgd.2_Missense_Mutation_p.D434N|CDH18_uc011cnm.1_Missense_Mutation_p.D434N NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 434 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTATTGGCATCAATGTTGAAA 0.348 84 58 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975440 21975440 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:21975440C>G uc010iuc.2 - 3 744 c.286G>C c.(286-288)GAT>CAT p.D96H CDH12_uc011cno.1_Missense_Mutation_p.D96H|CDH12_uc003jgk.2_Missense_Mutation_p.D96H NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 96 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCAGCGCCATCTCCTGAGAGG 0.393 HNSCC(59;0.17) 6 326 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915837 26915837 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:26915837C>A uc003jgs.1 - 3 593 c.424G>T c.(424-426)GAA>TAA p.E142* CDH9_uc010iug.2_Nonsense_Mutation_p.E142* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 142 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AATTCCGATTCCGGTTCCACC 0.398 279 247 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33624408 33624408 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:33624408A>T uc003jia.1 - 14 2234 c.2071T>A c.(2071-2073)TGC>AGC p.C691S ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 691 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CACACACCGCAGCGATCCTCG 0.502 HNSCC(64;0.19) 61 58 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33938175 33938175 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:33938175G>T uc003jic.1 + 1 1687 c.1330G>T c.(1330-1332)GAC>TAC p.D444Y NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 444 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 cgcggAGCCGGACCTGCTCTA 0.572 34 37 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35966004 35966004 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:35966004G>A uc003jjv.1 - 4 484 c.327C>T c.(325-327)GCC>GCT p.A109A UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.A109A|UGT3A1_uc011cor.1_Silent_p.A75A|UGT3A1_uc003jjy.1_Silent_p.A55A NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 109 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTTACAAGGGCTTCAGATT 0.274 47 56 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38407204 38407204 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:38407204G>A uc003jlc.1 + 8 1427 c.1103G>A c.(1102-1104)CGA>CAA p.R368Q EGFLAM_uc003jlb.1_Missense_Mutation_p.R368Q|EGFLAM_uc003jle.1_Missense_Mutation_p.R134Q|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 368 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GGGGGCTCGCGATGCCAGTGC 0.552 15 104 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38458495 38458495 + Silent SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:38458495A>C uc003jlc.1 + 21 3118 c.2794A>C c.(2794-2796)AGG>CGG p.R932R EGFLAM_uc003jlb.1_Silent_p.R924R|EGFLAM_uc003jle.1_Silent_p.R690R|EGFLAM_uc003jlf.1_Silent_p.R290R|EGFLAM_uc003jlg.1_Silent_p.R67R NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 932 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TAAGGCCGTTAGGTGAGTCCC 0.557 35 64 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39110483 39110483 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:39110483C>A uc003jls.2 - 15 2339 c.2272G>T c.(2272-2274)GTC>TTC p.V758F FYB_uc003jlt.2_Missense_Mutation_p.V804F|FYB_uc003jlu.2_Missense_Mutation_p.V758F|FYB_uc011cpl.1_Missense_Mutation_p.V814F NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 758 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CTCCGAAGGACATAACCATCT 0.299 25 43 --- --- --- --- PASS PTGER4 5734 broad.mit.edu 37 5 40681542 40681542 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:40681542C>T uc003jlz.2 + 2 1039 c.447C>T c.(445-447)CTC>CTT p.L149L NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 149 Helical; Name=4; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 CCAACGTGCTCTTTTGCGCGC 0.602 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 165 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40947703 40947703 + Splice_Site SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:40947703G>T uc003jmh.2 + 8 853 c.739_splice c.e8-1 p.S247_splice C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TCTTTCCACAGAGTTACCAAC 0.398 23 35 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41181509 41181509 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:41181509G>T uc003jmk.2 - 7 1089 c.879C>A c.(877-879)ATC>ATA p.I293I C6_uc003jml.1_Silent_p.I293I NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 293 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AATTATGGTTGATATTTTCAC 0.358 59 130 --- --- --- --- PASS FGF10 2255 broad.mit.edu 37 5 44388623 44388623 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:44388623G>T uc003jog.1 - 1 162 c.162C>A c.(160-162)TCC>TCA p.S54S NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 54 Poly-Ser. actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) AGAAGGAGGAGGAAGAAGAGT 0.542 43 45 --- --- --- --- PASS CCNO 10309 broad.mit.edu 37 5 54528254 54528254 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:54528254T>A uc003jpw.2 - 2 659 c.502A>T c.(502-504)ACG>TCG p.T168S CCNO_uc003jpv.2_RNA NM_021147 NP_066970 P22674 CCNO_HUMAN cyclin domain containing 168 cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity nucleoplasm protein kinase binding|uracil DNA N-glycosylase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183) LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161) GCCACCGGCGTGGTGGTGAGG 0.602 37 29 --- --- --- --- PASS ERCC8 1161 broad.mit.edu 37 5 60195503 60195503 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:60195503C>G uc003jsm.3 - 8 739 c.669G>C c.(667-669)TTG>TTC p.L223F ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.L165F|ERCC8_uc011cqp.1_Missense_Mutation_p.L70F NM_000082 NP_000073 Q13216 ERCC8_HUMAN excision repair cross-complementing rodent 223 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding 0 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) CAAGAGTAATCAAACATCCTG 0.328 Direct_reversal_of_damage|NER 29 126 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257310 63257310 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:63257310C>T uc011cqt.1 - 1 237 c.237G>A c.(235-237)GCG>GCA p.A79A NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 79 Helical; Name=2; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGTCGGTGACCGCCAAAGAGC 0.597 3 25 --- --- --- --- PASS ANKRA2 57763 broad.mit.edu 37 5 72850214 72850214 + Splice_Site SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:72850214C>T uc003kcu.1 - 7 1385 c.739_splice c.e7-1 p.N247_splice NM_023039 NP_075526 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) TTCCTCCATTCTGCAAAATGA 0.343 6 60 --- --- --- --- PASS AP3B1 8546 broad.mit.edu 37 5 77334916 77334916 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:77334916C>T uc003kfj.2 - 23 2885 c.2760G>A c.(2758-2760)GGG>GGA p.G920G NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 920 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GTTTTTTTTCCCCTATGTGGA 0.294 Hermansky-Pudlak_syndrome 35 32 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90459686 90459686 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:90459686G>T uc003kju.2 + 90 18986 c.18890G>T c.(18889-18891)AGG>ATG p.R6297M GPR98_uc003kjt.2_Missense_Mutation_p.R4003M|GPR98_uc003kjw.2_Missense_Mutation_p.R1958M|GPR98_uc003kjx.2_Missense_Mutation_p.R325M NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6297 Cytoplasmic (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTGGAGCTCAGGAGGATACCC 0.502 9 10 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101597671 101597671 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:101597671C>G uc003knm.2 - 5 1253 c.966G>C c.(964-966)TGG>TGC p.W322C NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 322 Helical; Name=6; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AAGCAAAGATCCATGATAGAA 0.363 15 53 --- --- --- --- PASS PDLIM4 8572 broad.mit.edu 37 5 131607158 131607158 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:131607158C>T uc003kwn.2 + 5 746 c.669C>T c.(667-669)GGC>GGT p.G223G uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Silent_p.G223G|PDLIM4_uc003kwo.2_Silent_p.G223G NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 223 protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCGGCGAGGGCGGTAAGACGC 0.692 24 18 --- --- --- --- PASS SLC23A1 9963 broad.mit.edu 37 5 138717664 138717664 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:138717664G>T uc003leh.2 - 3 322 c.225C>A c.(223-225)GAC>GAA p.D75E SLC23A1_uc003leg.2_Missense_Mutation_p.D75E NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 75 DQHMVS -> SQTLHC (in Ref. 1; AAC78804). brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CCATGTGCTGGTCGTGGCCCA 0.632 8 4 --- --- --- --- PASS HBEGF 1839 broad.mit.edu 37 5 139722236 139722236 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:139722236G>A uc003lfi.2 - 3 657 c.382C>T c.(382-384)CGG>TGG p.R128W HBEGF_uc010jfj.2_RNA NM_001945 NP_001936 Q99075 HBEGF_HUMAN heparin-binding EGF-like growth factor 128 Extracellular (Potential).|EGF-like. epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing cell surface|extracellular space|integral to plasma membrane epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGAGCCCGGAGCTCCTTC 0.517 153 113 --- --- --- --- PASS HARS 3035 broad.mit.edu 37 5 140056274 140056274 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:140056274C>G uc003lgv.2 - 10 1241 c.1159G>C c.(1159-1161)GAG>CAG p.E387Q HARS_uc003lgu.2_Missense_Mutation_p.E318Q|HARS_uc011czm.1_Missense_Mutation_p.E347Q|HARS_uc003lgw.2_Missense_Mutation_p.E367Q|HARS_uc011czn.1_Missense_Mutation_p.E327Q|HARS_uc010jfu.2_Missense_Mutation_p.E387Q|HARS_uc011czo.1_Missense_Mutation_p.E313Q|HARS_uc011czp.1_Missense_Mutation_p.E273Q|HARS_uc011czq.1_Missense_Mutation_p.E277Q NM_002109 NP_002100 P12081 SYHC_HUMAN histidyl-tRNA synthetase 387 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) AAAATCCGCTCCACCCCAATG 0.562 11 221 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140516142 140516142 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:140516142G>A uc003liq.2 + 1 1343 c.1126G>A c.(1126-1128)GAC>AAC p.D376N NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 376 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGACTCCGGGGACAACGGTAG 0.493 57 36 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590553 140590553 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:140590553G>C uc003liz.2 + 1 2263 c.2074G>C c.(2074-2076)GTG>CTG p.V692L PCDHB12_uc011dak.1_Missense_Mutation_p.V355L|PCDHB13_uc003lja.1_5'Flank NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 692 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACCTGGTGGTGGCGTTGGC 0.706 135 103 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140720617 140720617 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:140720617G>T uc003ljk.1 + 1 2264 c.2079G>T c.(2077-2079)CTG>CTT p.L693L PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.L693L|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 693 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGTACCTGGTGGTGGCGG 0.677 83 85 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140724255 140724255 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:140724255G>C uc003ljm.1 + 1 655 c.655G>C c.(655-657)GAC>CAC p.D219H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.D219H NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 219 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGGTGGCGACCCTGTCCA 0.537 41 26 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140735547 140735547 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:140735547G>T uc003ljq.1 + 1 780 c.780G>T c.(778-780)CGG>CGT p.R260R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R260R NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 260 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGGCACTCGGCTACTCACCG 0.463 19 14 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150928976 150928976 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:150928976G>C uc003lue.3 - 8 4682 c.4669C>G c.(4669-4671)CAG>GAG p.Q1557E GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1557 Extracellular (Potential).|Cadherin 14. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAATGGAGCTGAGTGAAGCGG 0.572 31 23 --- --- --- --- PASS GEMIN5 25929 broad.mit.edu 37 5 154311721 154311721 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:154311721G>C uc003lvx.3 - 4 682 c.599C>G c.(598-600)TCC>TGC p.S200C GEMIN5_uc011ddk.1_Missense_Mutation_p.S200C NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 200 WD 4. ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCAGGCTATGGAGTGGATTTC 0.408 48 136 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 156021941 156021941 + Splice_Site SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:156021941G>T uc003lwd.3 + 5 856 c.380_splice c.e5-1 p.G127_splice SGCD_uc003lwa.1_Splice_Site_p.G128_splice|SGCD_uc003lwb.2_Splice_Site_p.G128_splice|SGCD_uc003lwc.3_Splice_Site_p.G128_splice NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) atatctctcAGGTCCAAAAGC 0.269 14 6 --- --- --- --- PASS PANK3 79646 broad.mit.edu 37 5 167991022 167991022 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:167991022A>G uc003lzz.1 - 4 984 c.684T>C c.(682-684)TGT>TGC p.C228C NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 228 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) CAAAACTTTCACAGCCAGTCA 0.383 78 190 --- --- --- --- PASS PDLIM7 9260 broad.mit.edu 37 5 176911113 176911113 + Silent SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:176911113T>G uc003mhc.1 - 11 1214 c.1129A>C c.(1129-1131)AGG>CGG p.R377R PDLIM7_uc003mha.1_Silent_p.R271R|PDLIM7_uc003mhb.1_Silent_p.R343R|PDLIM7_uc003mhd.1_Silent_p.R229R|PDLIM7_uc003mhe.1_RNA NM_005451 NP_005442 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 isoform 1 377 LIM zinc-binding 2. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGAAGGCCCTGTTCCGGATG 0.607 71 47 --- --- --- --- PASS DOK3 79930 broad.mit.edu 37 5 176931332 176931332 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr5:176931332G>A uc003mhk.2 - 6 1148 c.1143C>T c.(1141-1143)TAC>TAT p.Y381Y DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Silent_p.Y325Y NM_024872 NP_079148 Q7L591 DOK3_HUMAN docking protein 3 isoform 1 381 cytoplasm|plasma membrane insulin receptor binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) ACACTGAAGCGTAGAGCCCGG 0.662 12 8 --- --- --- --- PASS GCM2 9247 broad.mit.edu 37 6 10874708 10874708 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:10874708G>A uc003mzn.3 - 5 1113 c.1041C>T c.(1039-1041)AAC>AAT p.N347N SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 347 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) ACTGCCCATGGTTAGTCCTTT 0.512 111 59 --- --- --- --- PASS SYCP2L 221711 broad.mit.edu 37 6 10924825 10924825 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:10924825A>T uc003mzo.2 + 15 1465 c.1169A>T c.(1168-1170)CAG>CTG p.Q390L SYCP2L_uc011din.1_Missense_Mutation_p.Q231L|SYCP2L_uc010jow.2_Missense_Mutation_p.Q10L NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 390 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TTTGATTTGCAGTTCAACATA 0.214 24 16 --- --- --- --- PASS NRSN1 140767 broad.mit.edu 37 6 24145857 24145857 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:24145857G>A uc010jpq.1 + 4 508 c.271G>A c.(271-273)GAA>AAA p.E91K NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 91 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 CCCCAAAATCGAAGCATTTGG 0.488 25 92 --- --- --- --- PASS ZNF391 346157 broad.mit.edu 37 6 27368701 27368701 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:27368701G>C uc003njf.1 + 3 1070 c.552G>C c.(550-552)CAG>CAC p.Q184H NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 184 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 GTCTACATCAGAGAATCCATA 0.403 23 61 --- --- --- --- PASS TRIM15 89870 broad.mit.edu 37 6 30131694 30131694 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:30131694T>C uc010jrx.2 + 1 712 c.233T>C c.(232-234)CTG>CCG p.L78P TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 78 B box-type. mesodermal cell fate determination intracellular zinc ion binding 0 CTGGGCCCGCTGGGAGAAACT 0.627 26 26 --- --- --- --- PASS TRIM15 89870 broad.mit.edu 37 6 30131695 30131695 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:30131695G>T uc010jrx.2 + 1 713 c.234G>T c.(232-234)CTG>CTT p.L78L TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 78 B box-type. mesodermal cell fate determination intracellular zinc ion binding 0 TGGGCCCGCTGGGAGAAACTT 0.627 26 26 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30671759 30671759 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:30671759G>A uc003nrg.3 - 10 5641 c.5201C>T c.(5200-5202)GCA>GTA p.A1734V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.A1341V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1734 Required for nuclear localization (NLS2). A -> T (in Ref. 4; BAE78617). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 AATGGGAGCTGCGAGGGAGCC 0.552 Other_conserved_DNA_damage_response_genes 18 73 --- --- --- --- PASS LHFPL5 222662 broad.mit.edu 37 6 35782501 35782501 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:35782501C>T uc003olg.1 + 2 968 c.591C>T c.(589-591)TTC>TTT p.F197F NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 197 Helical; (Potential). integral to membrane skin(1) 1 TCCTGGCCTTCGTGTTGGGCT 0.612 32 14 --- --- --- --- PASS TBC1D22B 55633 broad.mit.edu 37 6 37259053 37259053 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:37259053G>T uc003onn.2 + 8 1048 c.902G>T c.(901-903)CGC>CTC p.R301L TBC1D22B_uc010jwt.2_RNA NM_017772 NP_060242 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 301 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 OV - Ovarian serous cystadenocarcinoma(102;0.241) TGGGCCATCCGCCACCCTGCC 0.443 48 31 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43155792 43155792 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:43155792G>T uc003ouk.2 + 7 1998 c.1923G>T c.(1921-1923)CTG>CTT p.L641L CUL9_uc003ouj.1_Silent_p.L531L|CUL9_uc003oul.2_Silent_p.L641L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.L99L NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 641 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 ATTCTCAGCTGTTTAACCAGC 0.567 35 18 --- --- --- --- PASS SPATS1 221409 broad.mit.edu 37 6 44337825 44337825 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:44337825C>G uc003oxk.2 + 6 1080 c.733C>G c.(733-735)CTT>GTT p.L245V SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.L130V NM_145026 NP_659463 Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 245 skin(1) 1 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATTTATTCCACTTGAGCCTCT 0.328 79 56 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49582403 49582403 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:49582403G>A uc003ozk.3 - 5 866 c.804C>T c.(802-804)AAC>AAT p.N268N RHAG_uc010jzl.2_Silent_p.N268N|RHAG_uc010jzm.2_Silent_p.N268N NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 268 Cytoplasmic (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) CACTTACCATGTTGAGCTTGC 0.498 61 57 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49582408 49582408 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:49582408G>A uc003ozk.3 - 5 861 c.799C>T c.(799-801)CTC>TTC p.L267F RHAG_uc010jzl.2_Missense_Mutation_p.L267F|RHAG_uc010jzm.2_Missense_Mutation_p.L267F NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 267 Cytoplasmic (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) ACCATGTTGAGCTTGCCTCGG 0.493 62 57 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51484067 51484067 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:51484067C>G uc003pah.1 - 67 12313 c.12037G>C c.(12037-12039)GGC>CGC p.G4013R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 4013 Cytoplasmic (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGATTTTGGCCTGCCAGCTGG 0.572 41 30 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57398140 57398140 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:57398140C>A uc003pdx.2 + 10 930 c.843C>A c.(841-843)ACC>ACA p.T281T NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 281 DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AGCTTTCTACCAAATCCTTCC 0.373 51 119 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66044902 66044902 + Silent SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:66044902A>T uc011dxu.1 - 11 2275 c.1737T>A c.(1735-1737)GCT>GCA p.A579A EYS_uc003peq.2_Silent_p.A579A|EYS_uc003per.1_Silent_p.A579A NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 579 EGF-like 6. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CTTTACAAACAGCTTCATGTT 0.323 20 99 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66204874 66204874 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:66204874C>A uc011dxu.1 - 4 968 c.430G>T c.(430-432)GGG>TGG p.G144W EYS_uc003peq.2_Missense_Mutation_p.G144W|EYS_uc003per.1_Missense_Mutation_p.G144W|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 144 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 TAATGTGTCCCAACACTCAGC 0.433 43 49 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70610181 70610181 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:70610181G>A uc003pfc.1 + 4 334 c.217G>A c.(217-219)GAT>AAT p.D73N NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 73 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTGTGAAAGTGATAAAACCTG 0.259 39 37 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70983776 70983776 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:70983776C>T uc003pfg.3 - 12 1198 c.1039G>A c.(1039-1041)GGT>AGT p.G347S COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Missense_Mutation_p.G104S NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 347 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CCAGGCACACCAGGTTCTCCC 0.313 22 35 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72806703 72806703 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:72806703G>A uc003pga.2 + 3 374 c.297G>A c.(295-297)GGG>GGA p.G99G NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 99 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GAAAAATAGGGGAAGAAGCGC 0.438 6 26 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 73102502 73102502 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:73102502C>A uc003pga.2 + 31 4685 c.4608C>A c.(4606-4608)ACC>ACA p.T1536T RIMS1_uc011dyb.1_Silent_p.T933T|RIMS1_uc003pgc.2_Silent_p.T985T|RIMS1_uc010kaq.2_Silent_p.T856T|RIMS1_uc011dyc.1_Silent_p.T661T|RIMS1_uc010kar.2_Silent_p.T604T|RIMS1_uc011dyd.1_Silent_p.T670T|RIMS1_uc003pgf.2_Silent_p.T536T|RIMS1_uc003pgg.2_Silent_p.T432T|RIMS1_uc003pgi.2_Silent_p.T352T|RIMS1_uc003pgh.2_Silent_p.T403T|RIMS1_uc003pgd.2_Silent_p.T602T|RIMS1_uc003pge.2_Silent_p.T576T|RIMS1_uc011dye.1_Silent_p.T342T|RIMS1_uc011dyf.1_Silent_p.T160T|RIMS1_uc011dyg.1_Silent_p.T63T NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1536 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CCCTTGCCACCCCTGCAATGG 0.383 47 67 --- --- --- --- PASS OOEP 441161 broad.mit.edu 37 6 74079480 74079480 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:74079480C>A uc003pgu.3 - 1 36 c.36G>T c.(34-36)CGG>CGT p.R12R OOEP_uc003pgv.3_Intron NM_001080507 NP_001073976 A6NGQ2 OOEP_HUMAN oocyte expressed protein homolog 12 cytoplasm 0 TCTGTTTGCCCCGCTGGGACT 0.657 24 118 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76022205 76022205 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:76022205G>A uc003pia.2 - 5 3716 c.3343C>T c.(3343-3345)CAC>TAC p.H1115Y FILIP1_uc003phy.1_Missense_Mutation_p.H1115Y|FILIP1_uc003phz.2_Missense_Mutation_p.H1016Y|FILIP1_uc010kbe.2_Missense_Mutation_p.H1118Y|FILIP1_uc003pib.1_Missense_Mutation_p.H867Y NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1115 skin(3)|ovary(1) 4 GAGGAGAGGTGATTCCTGGGA 0.537 44 168 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84366499 84366499 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:84366499T>A uc011dze.1 - 7 949 c.632A>T c.(631-633)TAC>TTC p.Y211F SNAP91_uc003pkb.2_Missense_Mutation_p.Y176F|SNAP91_uc003pkc.2_Missense_Mutation_p.Y211F|SNAP91_uc003pkd.2_Missense_Mutation_p.Y211F|SNAP91_uc003pka.2_Missense_Mutation_p.Y211F|SNAP91_uc011dzf.1_Missense_Mutation_p.Y92F NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 211 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) ACCATCATTGTAGCAAGCAAA 0.378 10 36 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90362722 90362722 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:90362722T>C uc003pnn.1 - 94 15930 c.15814A>G c.(15814-15816)ACG>GCG p.T5272A NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5272 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGGAAGATCGTGTCCATGAGG 0.338 50 241 --- --- --- --- PASS KIAA0776 23376 broad.mit.edu 37 6 96973248 96973248 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:96973248G>A uc003por.2 + 4 376 c.328G>A c.(328-330)GTG>ATG p.V110M KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 110 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) TGTTCAGTTAGTGTTGGGACA 0.274 87 120 --- --- --- --- PASS PRDM1 639 broad.mit.edu 37 6 106536322 106536322 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:106536322G>A uc003prd.2 + 2 523 c.289G>A c.(289-291)GAG>AAG p.E97K NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 97 SET. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(1) haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CAACAGTGAAGAGGTAAGCCT 0.502 D|N|Mis|F|S DLBCL 25 101 --- --- --- --- PASS HS3ST5 222537 broad.mit.edu 37 6 114378987 114378987 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:114378987A>G uc003pwg.3 - 2 507 c.475T>C c.(475-477)TAT>CAT p.Y159H uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.Y159H NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 159 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTGATAAAATATGCTGGGCTC 0.383 160 193 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117700271 117700271 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:117700271G>C uc003pxp.1 - 17 2747 c.2548C>G c.(2548-2550)CAA>GAA p.Q850E ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 850 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGACTGTCTTGAACCAACCAA 0.398 T GOPC|ROS1 glioblastoma|NSCLC 36 54 --- --- --- --- PASS FAM184A 79632 broad.mit.edu 37 6 119281342 119281342 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:119281342G>C uc003pyj.2 - 18 3697 c.3349C>G c.(3349-3351)CAG>GAG p.Q1117E FAM184A_uc003pyk.3_Missense_Mutation_p.Q948E|FAM184A_uc003pyl.3_Missense_Mutation_p.Q913E|FAM184A_uc003pyi.2_RNA NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 1117 ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 GCTTCACTCTGAGCAGGACTG 0.443 12 98 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123318974 123318974 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:123318974C>A uc003pzi.1 + 2 921 c.52C>A c.(52-54)CTG>ATG p.L18M NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 18 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GAAAGCTCGCCTGGAGCTCAA 0.547 33 47 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123319225 123319225 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:123319225G>T uc003pzi.1 + 2 1172 c.303G>T c.(301-303)AAG>AAT p.K101N NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 101 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AGGCACTGAAGGATGGCTTCC 0.537 60 73 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123319300 123319300 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:123319300G>T uc003pzi.1 + 2 1247 c.378G>T c.(376-378)TGG>TGT p.W126C NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 126 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CTGCCAATTGGGATCAGAGCA 0.468 52 55 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123600200 123600200 + Splice_Site SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:123600200C>G uc003pzj.1 - 25 1559 c.1537_splice c.e25+1 p.Q513_splice TRDN_uc010kem.1_Splice_Site_p.Q14_splice NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) ATATAACATACGTGGAGGTTT 0.259 22 43 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129588326 129588326 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:129588326C>A uc003qbn.2 + 16 2389 c.2284C>A c.(2284-2286)CAT>AAT p.H762N LAMA2_uc003qbo.2_Missense_Mutation_p.H762N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 762 Laminin EGF-like 6. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTGCTTTGGTCATGCGGAGTC 0.493 165 205 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132171234 132171234 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:132171234T>A uc011ecf.1 + 3 438 c.418T>A c.(418-420)TGC>AGC p.C140S NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 140 SMB 1.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCAGGAGACGTGCATAGAACC 0.438 30 99 --- --- --- --- PASS TAAR1 134864 broad.mit.edu 37 6 132966703 132966703 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:132966703C>A uc003qdm.1 - 1 440 c.440G>T c.(439-441)AGT>ATT p.S147I NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 147 Helical; Name=4; (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) GACACTCCAACTAATGAAGAT 0.393 36 58 --- --- --- --- PASS TAAR1 134864 broad.mit.edu 37 6 132966855 132966855 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:132966855A>G uc003qdm.1 - 1 288 c.288T>C c.(286-288)TGT>TGC p.C96C NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 96 Extracellular (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TGTGAATTTTACAGAAGACTT 0.458 12 62 --- --- --- --- PASS ALDH8A1 64577 broad.mit.edu 37 6 135239933 135239933 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:135239933T>A uc003qew.2 - 7 1137 c.1084A>T c.(1084-1086)AGC>TGC p.S362C ALDH8A1_uc003qex.2_Missense_Mutation_p.S308C|ALDH8A1_uc010kgh.2_Missense_Mutation_p.S140C|ALDH8A1_uc011ecx.1_Missense_Mutation_p.S312C NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 362 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) GCAGGGAGGCTCAACTTATCC 0.483 34 112 --- --- --- --- PASS IFNGR1 3459 broad.mit.edu 37 6 137525569 137525569 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:137525569G>A uc003qho.2 - 4 549 c.446C>T c.(445-447)TCA>TTA p.S149L IFNGR1_uc011edm.1_Missense_Mutation_p.S121L|IFNGR1_uc011edn.1_Missense_Mutation_p.S139L NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 149 Extracellular (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TACAAAAACTGAAGGGTGAAA 0.413 11 137 --- --- --- --- PASS ECT2L 345930 broad.mit.edu 37 6 139206647 139206647 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:139206647G>C uc003qif.1 + 15 2136 c.2033G>C c.(2032-2034)AGA>ACA p.R678T ECT2L_uc011edq.1_Intron NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 678 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TTTTAGTGCAGAGAAATGATA 0.428 3 99 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143091585 143091585 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:143091585T>A uc003qjd.2 - 5 5034 c.4291A>T c.(4291-4293)AGC>TGC p.S1431C NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTGGCCACGCTGTCAGAGGTG 0.527 25 71 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146243814 146243814 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:146243814C>T uc003qlf.2 - 19 4103 c.3704G>A c.(3703-3705)AGA>AAA p.R1235K SHPRH_uc003qld.2_Missense_Mutation_p.R1239K|SHPRH_uc003qle.2_Missense_Mutation_p.R1239K|SHPRH_uc003qlg.1_Missense_Mutation_p.R791K|SHPRH_uc003qlh.2_Missense_Mutation_p.R160K|SHPRH_uc003qli.1_Missense_Mutation_p.R160K NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1235 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GAGAGGAAGTCTGGCTGGTCG 0.403 43 58 --- --- --- --- PASS RAET1G 353091 broad.mit.edu 37 6 150240831 150240831 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:150240831C>G uc010kii.1 - 2 275 c.207G>C c.(205-207)AAG>AAC p.K69N RAET1G_uc003qnm.2_RNA NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 69 MHC class I alpha-1 like.|Extracellular (Potential). antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) GTGTGACTGTCTTGCTGCCAC 0.517 5 364 --- --- --- --- PASS RAET1L 154064 broad.mit.edu 37 6 150343258 150343258 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:150343258C>G uc011eei.1 - 2 268 c.207G>C c.(205-207)AAG>AAC p.K69N NM_130900 NP_570970 Q5VY80 RET1L_HUMAN retinoic acid early transcript 1L precursor 69 MHC class I alpha-1 like (By similarity). antigen processing and presentation|immune response anchored to membrane|MHC class I protein complex 0 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.4e-12) GTGTGACTGTCTTGTTGCCAC 0.507 45 145 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152565699 152565699 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:152565699C>A uc010kiw.2 - 106 20267 c.19665G>T c.(19663-19665)CCG>CCT p.P6555P SYNE1_uc010kiv.2_Silent_p.P1079P|SYNE1_uc003qos.3_Silent_p.P1079P|SYNE1_uc003qot.3_Silent_p.P6484P|SYNE1_uc003qou.3_Silent_p.P6555P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6555 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTGCATGGACGGCTGCTCGA 0.443 HNSCC(10;0.0054) 31 126 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152615100 152615100 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:152615100T>G uc010kiw.2 - 94 18447 c.17845A>C c.(17845-17847)AAT>CAT p.N5949H SYNE1_uc010kiv.2_Missense_Mutation_p.N473H|SYNE1_uc003qos.3_Missense_Mutation_p.N473H|SYNE1_uc003qot.3_Missense_Mutation_p.N5878H|SYNE1_uc003qou.3_Missense_Mutation_p.N5949H|SYNE1_uc010kiy.1_Missense_Mutation_p.N124H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5949 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTACCACATTCTTTAAGGTT 0.473 HNSCC(10;0.0054) 28 112 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152779985 152779985 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:152779985C>T uc010kiw.2 - 22 3077 c.2475G>A c.(2473-2475)ACG>ACA p.T825T SYNE1_uc003qot.3_Silent_p.T832T|SYNE1_uc003qou.3_Silent_p.T825T|SYNE1_uc010kjb.1_Silent_p.T808T|SYNE1_uc003qow.2_Silent_p.T120T|SYNE1_uc003qox.1_Silent_p.T341T|SYNE1_uc003qoz.2_Silent_p.T257T|SYNE1_uc003qoy.2_Silent_p.T392T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 825 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CATAAAAGGACGTCATCTGCT 0.388 HNSCC(10;0.0054) 25 102 --- --- --- --- PASS AGPAT4 56895 broad.mit.edu 37 6 161574442 161574442 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:161574442G>C uc003qtr.1 - 5 827 c.600C>G c.(598-600)CTC>CTG p.L200L AGPAT4_uc003qts.1_Silent_p.L60L|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 200 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) GGTGATGCTTGAGGCGAGGCA 0.597 OREG0017775 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 26 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169632819 169632819 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:169632819G>T uc003qwt.2 - 13 2120 c.1872C>A c.(1870-1872)CCC>CCA p.P624P NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 624 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTCTGTATCGGGGCGGGCAGG 0.647 56 44 --- --- --- --- PASS FTSJ2 29960 broad.mit.edu 37 7 2281800 2281800 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:2281800G>A uc003slm.2 - 1 34 c.5C>T c.(4-6)GCG>GTG p.A2V FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN FtsJ homolog 2 2 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) AGCTCACCCCGCCATTGGTGT 0.726 23 4 --- --- --- --- PASS RBAK 57786 broad.mit.edu 37 7 5105001 5105001 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:5105001C>T uc010kss.1 + 6 2238 c.1914C>T c.(1912-1914)CTC>CTT p.L638L LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.L638L NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 638 C2H2-type 14.|Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TGTCAAACCTCACTGTCCACT 0.388 31 197 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20698188 20698188 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:20698188G>A uc003suw.3 + 5 807 c.261G>A c.(259-261)AGG>AGA p.R87R ABCB5_uc010kuh.2_Silent_p.R532R|ABCB5_uc003suv.3_Silent_p.R87R|ABCB5_uc011jyi.1_Silent_p.R87R NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 87 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGAAACAGAGGATCGCAATTG 0.438 15 98 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21882171 21882171 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:21882171G>C uc003svc.2 + 67 10753 c.10722G>C c.(10720-10722)AGG>AGC p.R3574S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3574 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGTATATCAGGATTGGAGATA 0.383 Kartagener_syndrome 6 90 --- --- --- --- PASS HNRNPA2B1 3181 broad.mit.edu 37 7 26236961 26236961 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:26236961C>G uc003sxr.3 - 4 490 c.274G>C c.(274-276)GAG>CAG p.E92Q HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.E80Q NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 92 RRM 1. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CGTTTTGGCTCAACTACTCTC 0.423 T ETV1 prostate 55 411 --- --- --- --- PASS RP9 6100 broad.mit.edu 37 7 33135041 33135041 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:33135041T>C uc003tdm.2 - 6 489 c.471A>G c.(469-471)ATA>ATG p.I157M NM_203288 NP_976033 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 157 RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding 0 GBM - Glioblastoma multiforme(11;0.0403) TTAACTGCTGTATCCTAAACA 0.328 90 23 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47873943 47873943 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:47873943T>C uc003tny.1 - 40 6168 c.6168A>G c.(6166-6168)CCA>CCG p.P2056P NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2056 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TTACCTTGCGTGGCTCCTGTG 0.433 39 34 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48312039 48312039 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:48312039G>A uc003toq.2 + 17 2801 c.2776G>A c.(2776-2778)GCA>ACA p.A926T ABCA13_uc010kyr.2_Missense_Mutation_p.A429T NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 926 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TATCAGGAATGCATCTGATCT 0.393 88 28 --- --- --- --- PASS VOPP1 81552 broad.mit.edu 37 7 55565340 55565340 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:55565340G>A uc003tqs.2 - 3 340 c.157C>T c.(157-159)CGG>TGG p.R53W VOPP1_uc003tqq.2_Missense_Mutation_p.R44W|VOPP1_uc010kzh.2_Missense_Mutation_p.R50W|VOPP1_uc010kzi.2_Missense_Mutation_p.R36W|VOPP1_uc011kcr.1_5'UTR NM_030796 NP_110423 Q96AW1 VOPP1_HUMAN EGFR-coamplified and overexpressed protein 53 Extracellular (Potential). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity 0 GAGAGGGCCCGCACACAGCAC 0.627 4 233 --- --- --- --- PASS SEPT14 346288 broad.mit.edu 37 7 55910746 55910746 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:55910746G>T uc003tqz.2 - 5 564 c.447C>A c.(445-447)TCC>TCA p.S149S NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 149 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACTCAAACAAGGAACGTTTAA 0.373 24 36 --- --- --- --- PASS ZNF107 51427 broad.mit.edu 37 7 64167545 64167545 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:64167545A>T uc003ttd.2 + 7 1649 c.863A>T c.(862-864)AAT>ATT p.N288I ZNF107_uc003tte.2_Missense_Mutation_p.N288I NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 288 C2H2-type 8; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TCAAACCTTAATAAACAGGAG 0.343 17 89 --- --- --- --- PASS TPST1 8460 broad.mit.edu 37 7 65751683 65751683 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:65751683A>C uc003tuw.2 + 3 1383 c.1031A>C c.(1030-1032)GAA>GCA p.E344A TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.E344A|TPST1_uc010laa.2_Missense_Mutation_p.E344A NM_003596 NP_003587 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 344 Lumenal (Potential). inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity 0 AAAATTATTGAAAACACTCGA 0.343 46 50 --- --- --- --- PASS AUTS2 26053 broad.mit.edu 37 7 69364300 69364300 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:69364300G>T uc003tvw.3 + 2 1081 c.338G>T c.(337-339)CGT>CTT p.R113L AUTS2_uc003tvv.3_Missense_Mutation_p.R113L|AUTS2_uc003tvx.3_Missense_Mutation_p.R113L NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 113 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCTCAGGAACGTGTGGAGAAA 0.473 21 95 --- --- --- --- PASS TRIM50 135892 broad.mit.edu 37 7 72732870 72732870 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:72732870T>A uc010lbd.1 - 4 802 c.677A>T c.(676-678)GAG>GTG p.E226V FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.E226V|TRIM50_uc003txz.1_Missense_Mutation_p.E226V NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 226 Potential. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 CAGCACACACTCGGCTTGGGC 0.667 33 142 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81594957 81594957 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:81594957C>T uc003uhr.1 - 32 2783 c.2527G>A c.(2527-2529)GAT>AAT p.D843N CACNA2D1_uc011kgy.1_Missense_Mutation_p.D55N NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 855 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AACCCACCATCATCCAGAATC 0.368 35 304 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82430892 82430892 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:82430892C>T uc003uhx.2 - 22 15238 c.14949G>A c.(14947-14949)CAG>CAA p.Q4983Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4906 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTTGTCCATTCTGTCCCATCT 0.338 42 126 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82585951 82585951 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:82585951C>T uc003uhx.2 - 5 4607 c.4318G>A c.(4318-4320)GAA>AAA p.E1440K PCLO_uc003uhv.2_Missense_Mutation_p.E1440K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1371 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGAGAAACTTCATGGGGTTGT 0.378 53 150 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 87027960 87027960 + Nonstop_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:87027960G>C uc003uit.2 + 18 2084 c.1839G>C c.(1837-1839)TAG>TAC p.*613Y CROT_uc003uiu.2_Nonstop_Mutation_p.*641Y NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 613 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.*613W(1) ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CTCATCTTTAGAGATGAATCA 0.398 18 98 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87196188 87196188 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:87196188C>G uc003uiz.1 - 7 861 c.443G>C c.(442-444)AGA>ACA p.R148T ABCB1_uc011khc.1_Intron NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 148 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AAACTGTTTTCTAATTTTGTG 0.428 3 192 --- --- --- --- PASS SLC25A40 55972 broad.mit.edu 37 7 87465676 87465676 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:87465676C>G uc003uje.2 - 12 1256 c.905G>C c.(904-906)GGC>GCC p.G302A NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 302 Solcar 3.|Helical; Name=6; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) AGGAATTAGGCCTGAGAAAAG 0.269 17 94 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92027143 92027143 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:92027143C>T uc003ulw.2 + 19 2878 c.2502C>T c.(2500-2502)GCC>GCT p.A834A ANKIB1_uc010lew.1_Silent_p.A103A NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 834 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACACCCCTGCCAGTCGCTCTG 0.542 147 248 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94038908 94038908 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:94038908C>T uc003ung.1 + 18 1395 c.924C>T c.(922-924)GCC>GCT p.A308A COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 308 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) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTACTGGTGCCAAGGGTGCTG 0.448 HNSCC(75;0.22) 19 164 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94173843 94173843 + Splice_Site SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:94173843G>T uc003uni.3 + 11 1703 c.1476_splice c.e11+1 p.Q492_splice CASD1_uc003unj.3_Splice_Site_p.Q492_splice NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AGTATGTCAGGTAGGAATGCA 0.328 96 147 --- --- --- --- PASS BAIAP2L1 55971 broad.mit.edu 37 7 97991745 97991745 + Splice_Site SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:97991745C>G uc003upj.2 - 2 315 c.52_splice c.e2-1 p.N18_splice NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) CCATAACATTCTGCCAAACAA 0.348 5 202 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98519471 98519471 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:98519471G>A uc003upp.2 + 21 2927 c.2718G>A c.(2716-2718)CTG>CTA p.L906L TRRAP_uc011kis.1_Silent_p.L906L|TRRAP_uc003upr.2_Silent_p.L598L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 906 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGAAGATGCTGAAGGAGTCGC 0.577 73 199 --- --- --- --- PASS ZNF498 221785 broad.mit.edu 37 7 99221705 99221705 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:99221705C>A uc003url.1 + 7 1034 c.707C>A c.(706-708)GCC>GAC p.A236D ZNF498_uc003urm.1_Missense_Mutation_p.A72D|ZNF498_uc010lge.1_Missense_Mutation_p.A72D|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Missense_Mutation_p.A20D NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 236 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AAAGATATGGCCCTGGCCTTC 0.522 152 219 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99802726 99802726 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:99802726C>A uc003utx.1 + 28 3205 c.3050C>A c.(3049-3051)CCC>CAC p.P1017H STAG3_uc011kjk.1_Missense_Mutation_p.P959H|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.P241H NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1017 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGTTTTCCCCCCGACTCTTC 0.552 181 399 --- --- --- --- PASS SPDYE3 441272 broad.mit.edu 37 7 99914722 99914722 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:99914722C>T uc003uug.1 + 3 399 c.159C>T c.(157-159)TTC>TTT p.F53F NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 430 0 TAGCGTATTTCAGCCGGGCCG 0.522 43 369 --- --- --- --- PASS PILRB 29990 broad.mit.edu 37 7 99964979 99964979 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:99964979G>T uc003uuk.2 + 18 3159 c.663G>T c.(661-663)AGG>AGT p.R221S PILRB_uc003uul.2_3'UTR|PILRB_uc003uun.2_Missense_Mutation_p.R221S NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 221 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) caggtagcagggcgccaagca 0.020 28 152 --- --- --- --- PASS MEPCE 56257 broad.mit.edu 37 7 100029210 100029210 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:100029210C>T uc003uuw.2 + 1 1682 c.1569C>T c.(1567-1569)TTC>TTT p.F523F ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_Silent_p.F54F NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 523 Bin3-type SAM. methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAGCTGCTTCCCAGCCTCGC 0.627 26 83 --- --- --- --- PASS SRRT 51593 broad.mit.edu 37 7 100473227 100473227 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:100473227G>A uc003uwy.2 + 3 284 c.16G>A c.(16-18)GAC>AAC p.D6N SRRT_uc010lhl.1_Missense_Mutation_p.D6N|SRRT_uc003uxa.2_Missense_Mutation_p.D6N|SRRT_uc003uwz.2_Missense_Mutation_p.D6N NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 6 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TGACAGTGATGACGAGTACGA 0.622 36 235 --- --- --- --- PASS PLOD3 8985 broad.mit.edu 37 7 100853379 100853379 + Missense_Mutation SNP C G G rs140879834 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:100853379C>G uc003uyd.2 - 15 2134 c.1678G>C c.(1678-1680)GAG>CAG p.E560Q PLOD3_uc010lhs.2_Missense_Mutation_p.E125Q NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 560 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CTCACCTGCTCCACGATTCCT 0.632 3 16 --- --- --- --- PASS LRRC17 10234 broad.mit.edu 37 7 102584869 102584869 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:102584869C>G uc003vau.2 + 4 1530 c.1141C>G c.(1141-1143)CCT>GCT p.P381A FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 381 LRRCT 2. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 ATGCAAAACGCCTGAAGAATA 0.403 33 272 --- --- --- --- PASS FBXL13 222235 broad.mit.edu 37 7 102665558 102665558 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:102665558C>T uc003vaq.2 - 6 874 c.447G>A c.(445-447)GAG>GAA p.E149E FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Silent_p.E149E|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.E149E|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 149 0 ATTTTAGAGTCTCATCTACAA 0.289 39 34 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106513008 106513008 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:106513008T>G uc003vdv.3 + 3 2107 c.2022T>G c.(2020-2022)GAT>GAG p.D674E PIK3CG_uc003vdu.2_Missense_Mutation_p.D674E|PIK3CG_uc003vdw.2_Missense_Mutation_p.D674E NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 674 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CATACCATGATAGCGCCCTTG 0.393 31 237 --- --- --- --- PASS C7orf66 154907 broad.mit.edu 37 7 108524212 108524212 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:108524212G>T uc003vfo.2 - 2 248 c.200C>A c.(199-201)TCA>TAA p.S67* NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 67 integral to membrane ovary(2) 2 ATATTGAGCTGAGAATTCCTC 0.423 117 194 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117149087 117149087 + Splice_Site SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:117149087G>T uc003vjd.2 + 3 297 c.165_splice c.e3-1 p.R55_splice CFTR_uc011knq.1_Splice_Site NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTCTTTTGCAGAGAATGGGAT 0.348 Cystic_Fibrosis 69 118 --- --- --- --- PASS GCC1 79571 broad.mit.edu 37 7 127223192 127223192 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:127223192C>T uc003vma.2 - 2 1622 c.1204G>A c.(1204-1206)GAC>AAC p.D402N NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 402 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 TTCTCCAGGTCCAGCTGCAGA 0.532 20 127 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129125498 129125498 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:129125498G>A uc011koy.1 + 21 2373 c.2333G>A c.(2332-2334)CGC>CAC p.R778H FAM40B_uc011koz.1_Missense_Mutation_p.R270H NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 778 0 AACAGCCGTCGCTATGACAGA 0.498 39 72 --- --- --- --- PASS EXOC4 60412 broad.mit.edu 37 7 133580390 133580390 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:133580390G>A uc003vrk.2 + 12 1808 c.1773G>A c.(1771-1773)CTG>CTA p.L591L EXOC4_uc011kpo.1_Silent_p.L490L|EXOC4_uc003vrl.2_Silent_p.L201L|EXOC4_uc011kpp.1_Silent_p.L123L NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 591 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AAGACCTCCTGAACCTGATGC 0.448 10 248 --- --- --- --- PASS WDR91 29062 broad.mit.edu 37 7 134873261 134873261 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:134873261G>C uc003vsp.2 - 13 1867 c.1805C>G c.(1804-1806)GCC>GGC p.A602G WDR91_uc010lmq.2_Missense_Mutation_p.A191G|WDR91_uc010lmr.2_Intron NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 602 WD 5. breast(2)|ovary(1)|skin(1) 4 CCCGTAGTGGGCCCTCCAGCT 0.537 64 261 --- --- --- --- PASS FAM180A 389558 broad.mit.edu 37 7 135418972 135418972 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:135418972G>A uc003vtd.2 - 3 539 c.273C>T c.(271-273)ACC>ACT p.T91T FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Silent_p.T91T NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 91 extracellular region ovary(2) 2 TGTTGCAGACGGTGCGGAAGT 0.587 8 314 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138591781 138591781 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:138591781G>A uc011kql.1 - 6 3393 c.3344C>T c.(3343-3345)GCG>GTG p.A1115V KIAA1549_uc003vuk.3_Missense_Mutation_p.A1065V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A1115V NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1115 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GCTTTTAACCGCAAAGATGAT 0.458 O BRAF pilocytic astrocytoma 3 37 --- --- --- --- PASS TRYX3 136541 broad.mit.edu 37 7 141952369 141952369 + Missense_Mutation SNP C G G rs149180097 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:141952369C>G uc003vxb.2 - 4 819 c.499G>C c.(499-501)GAT>CAT p.D167H TRYX3_uc003vxc.3_Missense_Mutation_p.D167H NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 167 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) TTATAGGCATCGCGACACTGA 0.428 29 226 --- --- --- --- PASS TRYX3 136541 broad.mit.edu 37 7 141955036 141955036 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:141955036T>A uc003vxb.2 - 3 595 c.275A>T c.(274-276)CAC>CTC p.H92L TRYX3_uc003vxc.3_Missense_Mutation_p.H92L NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 92 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) GACTGAGAAGTGTGGATGATG 0.423 45 162 --- --- --- --- PASS PRSS1 5644 broad.mit.edu 37 7 142457345 142457345 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:142457345C>T uc003wak.2 + 1 27 c.10C>T c.(10-12)CTC>TTC p.L4F uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|PRSS1_uc011ksm.1_Missense_Mutation_p.L4F|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 4 L -> F (in Ref. 7; AAI28227). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CATGAATCCACTCCTGATCCT 0.572 Hereditary_Pancreatitis 24 129 --- --- --- --- PASS EPHA1 2041 broad.mit.edu 37 7 143096484 143096484 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:143096484C>T uc003wcz.2 - 5 945 c.858G>A c.(856-858)CGG>CGA p.R286R NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 286 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCATGTCCATCCGGTAGGAGC 0.587 19 56 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146829458 146829458 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:146829458G>T uc003weu.1 + 8 1721 c.1205G>T c.(1204-1206)AGG>ATG p.R402M NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 402 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTCCAGTTTAGGACATGGAAC 0.498 HNSCC(39;0.1) 40 139 --- --- --- --- PASS WDR86 349136 broad.mit.edu 37 7 151093209 151093209 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:151093209C>A uc003wkb.2 - 3 828 c.379G>T c.(379-381)GGG>TGG p.G127W WDR86_uc003wka.2_Missense_Mutation_p.G85W|WDR86_uc011kvk.1_Missense_Mutation_p.G127W|WDR86_uc003wkc.2_5'UTR NM_198285 NP_938026 Q86TI4 WDR86_HUMAN WD repeat domain 86 127 WD 3. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACATCTGCCCCTTGTCCACA 0.662 19 50 --- --- --- --- PASS WDR86 349136 broad.mit.edu 37 7 151093210 151093210 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:151093210C>A uc003wkb.2 - 3 827 c.378G>T c.(376-378)AAG>AAT p.K126N WDR86_uc003wka.2_Missense_Mutation_p.K84N|WDR86_uc011kvk.1_Missense_Mutation_p.K126N|WDR86_uc003wkc.2_Translation_Start_Site NM_198285 NP_938026 Q86TI4 WDR86_HUMAN WD repeat domain 86 126 WD 3. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACATCTGCCCCTTGTCCACAC 0.657 19 50 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151880070 151880070 + Nonsense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:151880070T>A uc003wla.2 - 35 5473 c.5254A>T c.(5254-5256)AAA>TAA p.K1752* MLL3_uc003wkz.2_Nonsense_Mutation_p.K813* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1752 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGTCTAAATTTCCATTCCTGT 0.343 N medulloblastoma 118 64 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158464254 158464254 + Silent SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:158464254T>G uc003wnv.1 - 13 1576 c.1431A>C c.(1429-1431)GTA>GTC p.V477V NCAPG2_uc010lqu.1_Silent_p.V269V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.V477V|NCAPG2_uc011kwe.1_Silent_p.V477V NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 477 HEAT. cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CCACAAAAGCTACCCTCACTT 0.448 48 163 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158672642 158672642 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:158672642A>G uc003woe.3 + 5 999 c.841A>G c.(841-843)AAA>GAA p.K281E WDR60_uc010lqv.2_RNA NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 281 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TAGAAAAGAGAAATCGGCAAA 0.488 29 57 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3000184 3000184 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:3000184T>A uc011kwk.1 - 41 6437 c.6047A>T c.(6046-6048)CAG>CTG p.Q2016L CSMD1_uc011kwj.1_Missense_Mutation_p.Q1408L|CSMD1_uc010lrg.2_Missense_Mutation_p.Q84L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2016 Extracellular (Potential).|CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTCAGAAACTGAATATGTGC 0.368 66 55 --- --- --- --- PASS SGK223 157285 broad.mit.edu 37 8 8239031 8239031 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:8239031C>T uc003wsh.3 - 1 227 c.227G>A c.(226-228)AGC>AAC p.S76N NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 76 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GTAAGGTGAGCTGTTCACACC 0.647 26 45 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189354 11189354 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:11189354C>T uc003wtp.1 + 1 860 c.739C>T c.(739-741)CCC>TCC p.P247S NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 247 integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CCCCGTGTTGCCCAGTGACCT 0.627 60 62 --- --- --- --- PASS TNFRSF10A 8797 broad.mit.edu 37 8 23049437 23049437 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:23049437C>T uc003xda.2 - 10 1242 c.1177G>A c.(1177-1179)GAG>AAG p.E393K NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 393 Cytoplasmic (Potential).|Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding central_nervous_system(3)|ovary(2)|skin(1) 6 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) ACATCGATCTCATTTTTCGTG 0.522 51 25 --- --- --- --- PASS KCNU1 157855 broad.mit.edu 37 8 36703341 36703341 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:36703341C>T uc010lvw.2 + 18 1902 c.1815C>T c.(1813-1815)GTC>GTT p.V605V KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 605 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTGTTCAGTCTGTCATGATG 0.438 7 16 --- --- --- --- PASS BRF2 55290 broad.mit.edu 37 8 37702059 37702059 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:37702059C>A uc003xkk.2 - 4 1319 c.1209G>T c.(1207-1209)CAG>CAT p.Q403H NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 403 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CCTGGGCTCTCTGAAAGTCCC 0.507 4 157 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38173512 38173512 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:38173512C>T uc003xli.2 - 10 2422 c.1904G>A c.(1903-1905)CGC>CAC p.R635H WHSC1L1_uc011lbm.1_Missense_Mutation_p.R635H|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R635H NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 635 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGTTGAGGCGCGACTCCTTTT 0.403 T NUP98 AML 61 162 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39646253 39646253 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:39646253G>A uc003xnj.2 - 8 652 c.577C>T c.(577-579)CAT>TAT p.H193Y ADAM2_uc003xnk.2_Missense_Mutation_p.H174Y|ADAM2_uc011lck.1_Missense_Mutation_p.H193Y|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 193 Extracellular (Potential).|Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GACCCCATATGATTATACTGt 0.264 8 106 --- --- --- --- PASS MCM4 4173 broad.mit.edu 37 8 48885504 48885504 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:48885504G>C uc003xqk.1 + 14 2111 c.2016G>C c.(2014-2016)CAG>CAC p.Q672H MCM4_uc003xql.1_Missense_Mutation_p.Q672H|MCM4_uc011ldi.1_Missense_Mutation_p.Q659H NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 672 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|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGTACTACCAGAGCGAGGAGC 0.552 13 80 --- --- --- --- PASS ATP6V1H 51606 broad.mit.edu 37 8 54669176 54669176 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:54669176C>G uc003xrl.2 - 12 1368 c.1216G>C c.(1216-1218)GTC>CTC p.V406L ATP6V1H_uc003xrk.2_Missense_Mutation_p.V366L|ATP6V1H_uc003xrm.2_Missense_Mutation_p.V406L|ATP6V1H_uc003xrn.2_Missense_Mutation_p.V388L|ATP6V1H_uc011ldv.1_Missense_Mutation_p.V326L|ATP6V1H_uc010lyd.2_Missense_Mutation_p.V342L NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 406 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) ACAGCTAAGACTTGGGGATCA 0.373 46 55 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59510037 59510037 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:59510037T>C uc003xtt.2 - 21 1915 c.1701A>G c.(1699-1701)CTA>CTG p.L567L NSMAF_uc011lee.1_Silent_p.L598L NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 567 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) GTGTCACAAATAGTTGTTTTG 0.428 173 158 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69030878 69030878 + Silent SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:69030878A>T uc003xxv.1 + 27 3447 c.3420A>T c.(3418-3420)TCA>TCT p.S1140S NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1140 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AAATGGACTCAGGTGTGTTCG 0.413 15 116 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71071771 71071771 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:71071771G>A uc003xyn.1 - 10 1255 c.1093C>T c.(1093-1095)CAA>TAA p.Q365* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 365 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ATTACAAGTTGAGGTTCATTA 0.373 T RUNXBP2 AML 8 439 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72970052 72970052 + Splice_Site SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:72970052C>A uc003xza.2 - 9 1169 c.994_splice c.e9-1 p.G332_splice NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TATCTGCTCCCTAAAAATCAA 0.318 42 85 --- --- --- --- PASS C8orf84 157869 broad.mit.edu 37 8 73993433 73993433 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:73993433A>T uc003xzf.2 - 2 435 c.230T>A c.(229-231)GTG>GAG p.V77E NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 77 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity 0 CCATTCCCCCACGAAGCACGG 0.617 55 133 --- --- --- --- PASS JPH1 56704 broad.mit.edu 37 8 75227697 75227697 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:75227697C>A uc003yae.2 - 2 578 c.538G>T c.(538-540)GCA>TCA p.A180S JPH1_uc003yaf.2_Missense_Mutation_p.A180S|JPH1_uc003yag.1_Missense_Mutation_p.A44S NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 180 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GCGGCGGCTGCGGCGTCGTGG 0.706 39 32 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616803 77616803 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:77616803C>A uc003yav.2 + 2 867 c.480C>A c.(478-480)CTC>CTA p.L160L ZFHX4_uc003yat.1_Silent_p.L160L|ZFHX4_uc003yau.1_Silent_p.L160L|ZFHX4_uc003yaw.1_Silent_p.L160L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 160 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATAGCAAACTCTTTTCTACAG 0.478 HNSCC(33;0.089) 8 33 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77768487 77768487 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:77768487C>A uc003yav.2 + 10 9582 c.9195C>A c.(9193-9195)CCC>CCA p.P3065P ZFHX4_uc003yau.1_Silent_p.P3110P|ZFHX4_uc003yaw.1_Silent_p.P3065P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3065 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCTTCTCCCCGGAATGAACG 0.527 HNSCC(33;0.089) 12 56 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775711 77775711 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:77775711C>A uc003yav.2 + 11 10013 c.9626C>A c.(9625-9627)CCA>CAA p.P3209Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3205 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTGGTGACCCAGCTTCCTTT 0.458 HNSCC(33;0.089) 103 103 --- --- --- --- PASS CA3 761 broad.mit.edu 37 8 86354385 86354385 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:86354385G>C uc003ydj.2 + 3 399 c.316G>C c.(316-318)GAG>CAG p.E106Q CA3_uc011lfv.1_Intron NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 106 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 TCATGGCTCTGAGCACACCGT 0.493 20 118 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89180131 89180131 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:89180131C>G uc003yeb.3 - 4 758 c.476G>C c.(475-477)TGG>TCG p.W159S MMP16_uc003yec.2_Missense_Mutation_p.W159S NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 159 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TACATTCTGCCACACATCAAA 0.378 13 69 --- --- --- --- PASS OTUD6B 51633 broad.mit.edu 37 8 92092907 92092907 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:92092907G>T uc003yeu.3 + 5 828 c.729G>T c.(727-729)CAG>CAT p.Q243H OTUD6B_uc011lgh.1_Missense_Mutation_p.Q112H NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 213 OTU. ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(11;0.0187) AAGAATTTCAGAAGTACTGTG 0.338 6 23 --- --- --- --- PASS DPYS 1807 broad.mit.edu 37 8 105456623 105456623 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:105456623C>A uc003yly.3 - 4 775 c.646G>T c.(646-648)GGC>TGC p.G216C NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 216 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCTCGTGGCCCTCAGGGCCT 0.527 37 62 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106815657 106815657 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:106815657C>A uc003ymd.2 + 8 3370 c.3347C>A c.(3346-3348)ACC>AAC p.T1116N ZFPM2_uc011lhs.1_Missense_Mutation_p.T847N NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 1116 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGGCTCCAACCAGTGGGAAA 0.433 9 33 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110457611 110457611 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:110457611C>A uc003yne.2 + 38 5617 c.5513C>A c.(5512-5514)CCA>CAA p.P1838Q NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1838 Extracellular (Potential).|IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTCTATCACCAACTTCTGGA 0.493 HNSCC(38;0.096) 12 39 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113363403 113363403 + Splice_Site SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:113363403C>A uc003ynu.2 - 40 6484 c.6325_splice c.e40+1 p.A2109_splice CSMD3_uc003yns.2_Splice_Site_p.A1311_splice|CSMD3_uc003ynt.2_Splice_Site_p.A2069_splice|CSMD3_uc011lhx.1_Splice_Site_p.A2005_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTTAACTTACCTAAACAAAT 0.308 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 102 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113519002 113519002 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:113519002G>C uc003ynu.2 - 29 4972 c.4813C>G c.(4813-4815)CCT>GCT p.P1605A CSMD3_uc003yns.2_Missense_Mutation_p.P877A|CSMD3_uc003ynt.2_Missense_Mutation_p.P1565A|CSMD3_uc011lhx.1_Missense_Mutation_p.P1501A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1605 Extracellular (Potential).|CUB 9. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TATGGATGAGGGAAGTTTGGT 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 82 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113519003 113519003 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:113519003G>T uc003ynu.2 - 29 4971 c.4812C>A c.(4810-4812)TTC>TTA p.F1604L CSMD3_uc003yns.2_Missense_Mutation_p.F876L|CSMD3_uc003ynt.2_Missense_Mutation_p.F1564L|CSMD3_uc011lhx.1_Missense_Mutation_p.F1500L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1604 Extracellular (Potential).|CUB 9. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATGGATGAGGGAAGTTTGGTG 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 83 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113564938 113564938 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:113564938C>A uc003ynu.2 - 26 4405 c.4246G>T c.(4246-4248)GGT>TGT p.G1416C CSMD3_uc003yns.2_Missense_Mutation_p.G688C|CSMD3_uc003ynt.2_Missense_Mutation_p.G1376C|CSMD3_uc011lhx.1_Missense_Mutation_p.G1312C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1416 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTAAAACGACCTCCACATTCA 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 49 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113871398 113871398 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:113871398G>A uc003ynu.2 - 11 1890 c.1731C>T c.(1729-1731)GTC>GTT p.V577V CSMD3_uc003ynt.2_Silent_p.V537V|CSMD3_uc011lhx.1_Silent_p.V473V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 577 Extracellular (Potential).|CUB 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGCTGTGATGACCCAGACAC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 142 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118159212 118159212 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:118159212C>A uc003yoh.2 + 2 321 c.91C>A c.(91-93)CCG>ACG p.P31T SLC30A8_uc010mcz.2_5'UTR|SLC30A8_uc011lia.1_5'UTR|SLC30A8_uc003yog.2_5'UTR NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 31 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCAACAGAAACCGGTGAATAA 0.517 33 55 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118159213 118159213 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:118159213C>A uc003yoh.2 + 2 322 c.92C>A c.(91-93)CCG>CAG p.P31Q SLC30A8_uc010mcz.2_5'UTR|SLC30A8_uc011lia.1_5'UTR|SLC30A8_uc003yog.2_5'UTR NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 31 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CAACAGAAACCGGTGAATAAA 0.522 35 55 --- --- --- --- PASS C8orf76 84933 broad.mit.edu 37 8 124232363 124232363 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:124232363C>A uc003yqc.1 - 6 1154 c.1123G>T c.(1123-1125)GAG>TAG p.E375* NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 375 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ATTTGTATCTCTGTATGGAAC 0.363 31 116 --- --- --- --- PASS FBXO32 114907 broad.mit.edu 37 8 124547001 124547001 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:124547001T>C uc003yqr.2 - 2 362 c.170A>G c.(169-171)TAT>TGT p.Y57C FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.Y57C NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 57 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGCAACATCATAGTTCAGGCT 0.368 108 97 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139190802 139190802 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:139190802G>A uc003yuy.2 - 10 1176 c.1005C>T c.(1003-1005)CTC>CTT p.L335L FAM135B_uc003yux.2_Silent_p.L236L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 335 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTTCCTGGGTGAGATAAGTGG 0.498 HNSCC(54;0.14) 11 61 --- --- --- --- PASS KCNK9 51305 broad.mit.edu 37 8 140630639 140630639 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:140630639G>T uc003yvf.1 - 2 1051 c.987C>A c.(985-987)TCC>TCA p.S329S KCNK9_uc003yvg.1_Silent_p.S329S|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 329 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TGTAAGAGATGGAGTGGAAGT 0.557 37 108 --- --- --- --- PASS TRAPPC9 83696 broad.mit.edu 37 8 141415750 141415750 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:141415750C>T uc003yvj.2 - 6 1068 c.934G>A c.(934-936)GGA>AGA p.G312R TRAPPC9_uc003yvh.2_Missense_Mutation_p.G410R|TRAPPC9_uc003yvi.1_Missense_Mutation_p.G303R NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 312 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 TTAGCACGTCCGATCTCAGTA 0.398 20 79 --- --- --- --- PASS EIF2C2 27161 broad.mit.edu 37 8 141559241 141559241 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:141559241G>C uc003yvn.2 - 12 1600 c.1560C>G c.(1558-1560)GTC>GTG p.V520V EIF2C2_uc010men.2_Silent_p.V443V|EIF2C2_uc010meo.2_Silent_p.V520V NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 520 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) CGGGCAGGATGACCACCACCA 0.662 9 43 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143559588 143559588 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:143559588G>T uc003ywm.2 + 6 1611 c.1428G>T c.(1426-1428)TGG>TGT p.W476C NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 476 Extracellular (Potential).|TSP type-1 4. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGTCGAGCTGGAGCGCCTGCT 0.677 4 11 --- --- --- --- PASS ZFP41 286128 broad.mit.edu 37 8 144332175 144332175 + Silent SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:144332175T>G uc003yxw.2 + 2 520 c.162T>G c.(160-162)CCT>CCG p.P54P ZFP41_uc003yxv.2_RNA NM_173832 NP_776193 Q8N8Y5 ZFP41_HUMAN zinc finger protein 41 homolog 54 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCCTGAGTCCTGAAGACGAAG 0.547 18 73 --- --- --- --- PASS TOP1MT 116447 broad.mit.edu 37 8 144413411 144413411 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:144413411A>G uc003yxz.2 - 2 240 c.221T>C c.(220-222)GTG>GCG p.V74A TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 74 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) GAAGAAACGCACTCCGTCGGG 0.637 23 110 --- --- --- --- PASS GSDMD 79792 broad.mit.edu 37 8 144641548 144641548 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:144641548G>A uc010mfe.2 + 5 746 c.43G>A c.(43-45)GAG>AAG p.E15K uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.E63K|GSDMD_uc003yyi.2_Missense_Mutation_p.E15K|GSDMD_uc003yyg.2_Missense_Mutation_p.E15K|GSDMD_uc003yyh.2_Missense_Mutation_p.E15K NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 15 0 AGTGGTCCAGGAGCTGGACCA 0.632 36 51 --- --- --- --- PASS ZNF250 58500 broad.mit.edu 37 8 146106968 146106968 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:146106968C>A uc003zeq.3 - 6 1732 c.1615G>T c.(1615-1617)GAG>TAG p.E539* COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Nonsense_Mutation_p.E534*|ZNF250_uc010mgg.2_Nonsense_Mutation_p.E534* NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 539 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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) CGCCCACACTCCCCGCACTCA 0.557 5 28 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5720617 5720617 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:5720617G>A uc003zji.2 + 5 443 c.350G>A c.(349-351)GGT>GAT p.G117D KIAA1432_uc003zjh.2_Missense_Mutation_p.G117D|KIAA1432_uc003zjl.3_Missense_Mutation_p.G117D|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 196 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TCATCAGTAGGTTCATTCCTG 0.343 335 65 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14801851 14801851 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:14801851C>G uc003zlm.2 - 20 4083 c.3493G>C c.(3493-3495)GAG>CAG p.E1165Q FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1165 CSPG 8. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GAGTCCAGCTCTTTCATCTGA 0.473 27 188 --- --- --- --- PASS TTC39B 158219 broad.mit.edu 37 9 15177792 15177792 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:15177792C>A uc003zlr.1 - 18 1667 c.1546G>T c.(1546-1548)GAT>TAT p.D516Y TTC39B_uc003zlq.1_Missense_Mutation_p.D485Y|TTC39B_uc011lmp.1_Missense_Mutation_p.D417Y|TTC39B_uc010mie.1_Missense_Mutation_p.D514Y|TTC39B_uc011lmq.1_Missense_Mutation_p.D503Y|TTC39B_uc011lmr.1_Missense_Mutation_p.D447Y|TTC39B_uc003zlp.1_Missense_Mutation_p.D99Y NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 516 binding ovary(1) 1 CACTCATCATCCACAGAGAAG 0.303 86 14 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32632175 32632175 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:32632175G>C uc003zrg.1 - 1 3493 c.3403C>G c.(3403-3405)CAG>GAG p.Q1135E uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1135 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 p.Q1135*(1) lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CGTGACAGCTGAGAGCTGGTT 0.468 25 99 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73478022 73478022 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:73478022G>A uc004aid.2 - 3 508 c.264C>T c.(262-264)TGC>TGT p.C88C TRPM3_uc004ahw.2_5'UTR|TRPM3_uc004ahx.2_5'UTR|TRPM3_uc004ahy.2_5'UTR|TRPM3_uc004ahz.2_5'UTR|TRPM3_uc004aia.2_5'UTR|TRPM3_uc004aib.2_5'UTR|TRPM3_uc004aic.2_Silent_p.C88C|TRPM3_uc010mor.2_Silent_p.C88C|TRPM3_uc004aie.2_5'UTR|TRPM3_uc004aif.2_5'UTR|TRPM3_uc004aig.2_5'UTR|TRPM3_uc004aii.2_Silent_p.C90C NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 88 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GACGCCCACAGCAACACCTAT 0.478 21 63 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74810478 74810478 + Silent SNP G C C rs146363148 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:74810478G>C uc004aiq.2 + 2 369 c.186G>C c.(184-186)CCG>CCC p.P62P GDA_uc011lse.1_5'UTR|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Silent_p.P62P|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.P20P|GDA_uc004ait.1_5'UTR NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 62 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GCTTCAAGCCGTGTGAAATAA 0.363 14 43 --- --- --- --- PASS C9orf40 55071 broad.mit.edu 37 9 77567353 77567353 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:77567353C>T uc004ajo.3 - 1 450 c.175G>A c.(175-177)GAC>AAC p.D59N uc004ajp.2_5'Flank NM_017998 NP_060468 Q8IXQ3 CI040_HUMAN hypothetical protein LOC55071 59 0 GTCCCTGCGTCGATTTTGCGC 0.711 6 26 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79319808 79319808 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:79319808C>G uc010mpk.2 - 8 7506 c.7382G>C c.(7381-7383)CGT>CCT p.R2461P PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2461 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AGGGTCTTCACGAATATGCAG 0.473 OREG0019258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 15 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79465456 79465456 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:79465456C>A uc010mpk.2 - 3 391 c.267G>T c.(265-267)CGG>CGT p.R89R PRUNE2_uc004akn.2_Silent_p.R89R NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 89 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TAATTTCATCCCGGAATATGT 0.418 44 169 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84606478 84606478 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:84606478G>T uc004amn.2 + 4 1140 c.1093G>T c.(1093-1095)GAC>TAC p.D365Y NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 365 integral to membrane 0 TCATGCCAAGGACTCTTTTTC 0.498 28 82 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84607348 84607348 + Missense_Mutation SNP C T T rs142037367 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:84607348C>T uc004amn.2 + 4 2010 c.1963C>T c.(1963-1965)CCC>TCC p.P655S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 655 integral to membrane 0 TCCTCCAGCTCCCAATCCTGA 0.468 61 66 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84607883 84607883 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:84607883G>C uc004amn.2 + 4 2545 c.2498G>C c.(2497-2499)CGT>CCT p.R833P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 833 integral to membrane 0 CTGACAGTACGTTTGAGCAAG 0.448 16 77 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90499964 90499964 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:90499964A>T uc004app.3 + 4 597 c.562A>T c.(562-564)AGC>TGC p.S188C C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 188 Pro-rich. integral to membrane ovary(3) 3 GTCTCCTGCCAGCTTGTCCCC 0.622 29 122 --- --- --- --- PASS LOC286238 286238 broad.mit.edu 37 9 91262462 91262462 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:91262462C>G uc010mql.1 - 2 314 c.181G>C c.(181-183)GAG>CAG p.E61Q NM_001100111 NP_001093581 hypothetical protein LOC286238 0 GTTATCATCTCTCCTGTTTTG 0.433 27 135 --- --- --- --- PASS TDRD7 23424 broad.mit.edu 37 9 100232920 100232920 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:100232920C>G uc004axj.2 + 9 1935 c.1710C>G c.(1708-1710)CTC>CTG p.L570L TDRD7_uc011lux.1_Silent_p.L496L|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.1_5'UTR NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 570 Tudor 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) TTTGTTCACTCTCATTTCAAG 0.323 3 91 --- --- --- --- PASS OR13D1 286365 broad.mit.edu 37 9 107457019 107457019 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:107457019C>G uc011lvs.1 + 1 317 c.317C>G c.(316-318)ACA>AGA p.T106R NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 106 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATCTGTTACACATCCTCATCC 0.428 205 279 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109689124 109689124 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:109689124G>T uc004bcz.2 + 3 3220 c.2931G>T c.(2929-2931)CTG>CTT p.L977L ZNF462_uc010mto.2_Silent_p.L825L|ZNF462_uc004bda.2_Silent_p.L825L NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 977 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CCCAGACCCTGAGGGAGATTC 0.498 9 103 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114182345 114182345 + Nonsense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:114182345G>C uc004bfe.1 - 17 2045 c.2045C>G c.(2044-2046)TCA>TGA p.S682* KIAA0368_uc010muc.1_Nonsense_Mutation_p.S504* NM_001080398 NP_001073867 KIAA0368 protein 0 GATATGATCTGAGGGAAACAC 0.398 25 93 --- --- --- --- PASS RGS3 5998 broad.mit.edu 37 9 116345834 116345834 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:116345834G>C uc004bhq.2 + 21 2351 c.2142G>C c.(2140-2142)CAG>CAC p.Q714H RGS3_uc004bhs.2_Missense_Mutation_p.Q604H|RGS3_uc004bht.2_Missense_Mutation_p.Q433H|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.Q35H|RGS3_uc010muz.1_Missense_Mutation_p.Q53H|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.Q24H|RGS3_uc004bhx.2_Missense_Mutation_p.Q35H|RGS3_uc004bhy.1_Missense_Mutation_p.Q24H|RGS3_uc004bhz.2_Missense_Mutation_p.Q56H NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 714 Pro-rich. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CTCCTGGCCAGGAGCTTCCTC 0.607 46 66 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 119028236 119028236 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:119028236G>T uc004bjn.2 + 8 3214 c.2833G>T c.(2833-2835)GGG>TGG p.G945W PAPPA_uc011lxp.1_Missense_Mutation_p.G640W|PAPPA_uc011lxq.1_Missense_Mutation_p.G320W NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 945 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CCATGGAAGTGGGTACTGTGG 0.433 21 52 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 122075479 122075479 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:122075479C>A uc004bkc.2 - 2 611 c.155G>T c.(154-156)AGG>ATG p.R52M DBC1_uc004bkd.2_Missense_Mutation_p.R52M NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 52 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TAGGTAGCTCCTGGAGTGGTG 0.483 21 121 --- --- --- --- PASS OR1L3 26735 broad.mit.edu 37 9 125437982 125437982 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:125437982A>T uc011lzb.1 + 1 574 c.574A>T c.(574-576)ACC>TCC p.T192S NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGCTCCTCCACCTTTGTCAA 0.438 156 168 --- --- --- --- PASS PDCL 5082 broad.mit.edu 37 9 125589053 125589053 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:125589053T>C uc004bmz.1 - 2 110 c.14A>G c.(13-15)GAT>GGT p.D5G PDCL_uc004bna.2_Missense_Mutation_p.D5G NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 5 signal transduction|visual perception 0 CAACTTATCATCAAGGGTGGT 0.517 41 149 --- --- --- --- PASS RC3H2 54542 broad.mit.edu 37 9 125655289 125655289 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:125655289G>A uc010mwc.1 - 3 489 c.248C>T c.(247-249)TCA>TTA p.S83L RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.S83L|RC3H2_uc004bne.3_Missense_Mutation_p.S83L|RC3H2_uc011lzg.1_Missense_Mutation_p.S83L|RC3H2_uc004bng.1_Missense_Mutation_p.S83L NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 83 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 TAACTTAATTGACTGATGATC 0.313 16 54 --- --- --- --- PASS LHX2 9355 broad.mit.edu 37 9 126794808 126794808 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:126794808G>T uc004boe.1 + 5 1782 c.1043G>T c.(1042-1044)GGC>GTC p.G348V LHX2_uc010mwi.1_Missense_Mutation_p.G356V NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 348 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACGCCATCGGGCCCGGCCTCG 0.662 19 74 --- --- --- --- PASS PPP6C 5537 broad.mit.edu 37 9 127912174 127912174 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:127912174G>A uc004bpg.3 - 7 917 c.696C>T c.(694-696)CTC>CTT p.L232L PPP6C_uc010mwv.2_Silent_p.L269L|PPP6C_uc010mww.2_Silent_p.L210L|PPP6C_uc011lzr.1_Silent_p.L85L NM_002721 NP_002712 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit isoform 232 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity ovary(1)|skin(1) 2 CTCTGCAGATGAGTTTTAAGT 0.353 17 46 --- --- --- --- PASS GAPVD1 26130 broad.mit.edu 37 9 128117939 128117939 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:128117939C>T uc010mwx.2 + 25 4154 c.3828C>T c.(3826-3828)ACC>ACT p.T1276T GAPVD1_uc004bpp.2_Silent_p.T1285T|GAPVD1_uc004bpq.2_Silent_p.T1258T|GAPVD1_uc004bpr.2_Silent_p.T1237T|GAPVD1_uc004bps.2_Silent_p.T1231T|GAPVD1_uc004bpt.2_Silent_p.T291T NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1276 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGAAACTCACCGCAGCTGACG 0.308 12 49 --- --- --- --- PASS CCBL1 883 broad.mit.edu 37 9 131597858 131597858 + Missense_Mutation SNP C T T rs139758426 by1000genomes TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:131597858C>T uc004bwh.2 - 10 1129 c.944G>A c.(943-945)CGC>CAC p.R315H CCBL1_uc004bwf.2_Missense_Mutation_p.R349H|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.R315H|CCBL1_uc004bwj.2_Missense_Mutation_p.R265H|CCBL1_uc011mbl.1_Missense_Mutation_p.R409H|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.R272H NM_004059 NP_004050 Q16773 KAT1_HUMAN kynurenine aminotransferase I isoform a 315 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) GTCACGGCAGCGCTGCATGGC 0.587 31 89 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135161823 135161823 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:135161823G>C uc004cbk.2 - 18 6566 c.6383C>G c.(6382-6384)TCT>TGT p.S2128C SETX_uc004cbj.2_Missense_Mutation_p.S1747C|SETX_uc010mzt.2_Missense_Mutation_p.S1747C NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2128 Potential. cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TTTAATTTTAGAAGCAAGTTC 0.294 13 112 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135202559 135202559 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:135202559C>T uc004cbk.2 - 10 4609 c.4426G>A c.(4426-4428)GAG>AAG p.E1476K SETX_uc004cbj.2_Missense_Mutation_p.E1095K|SETX_uc010mzt.2_Missense_Mutation_p.E1095K NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1476 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GCTGCCATCTCTATATGACGT 0.413 43 151 --- --- --- --- PASS GTF3C4 9329 broad.mit.edu 37 9 135554533 135554533 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:135554533G>C uc010mzv.2 + 2 1785 c.1527G>C c.(1525-1527)CAG>CAC p.Q509H GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 509 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) AAAACTACCAGGTCCAATTTG 0.483 36 160 --- --- --- --- PASS SARDH 1757 broad.mit.edu 37 9 136577802 136577802 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:136577802C>G uc004cep.3 - 10 1401 c.1267G>C c.(1267-1269)GAG>CAG p.E423Q SARDH_uc004ceo.2_Missense_Mutation_p.E423Q|SARDH_uc011mdn.1_Missense_Mutation_p.E423Q|SARDH_uc011mdo.1_Missense_Mutation_p.E255Q NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 423 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGGGCCAGCTCCTGCCCACAG 0.637 15 71 --- --- --- --- PASS QSOX2 169714 broad.mit.edu 37 9 139100962 139100962 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:139100962G>A uc010nbi.2 - 12 1747 c.1709C>T c.(1708-1710)ACG>ATG p.T570M NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 570 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TGCGGAATACGTGTCTAAGAG 0.577 25 141 --- --- --- --- PASS FAM69B 138311 broad.mit.edu 37 9 139616741 139616741 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:139616741C>T uc004cik.2 + 4 565 c.471C>T c.(469-471)CTC>CTT p.L157L FAM69B_uc004cil.2_Silent_p.L70L|SNHG7_uc004cim.2_RNA NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 157 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) AGATGACCCTCAGCTTCCTCA 0.662 3 31 --- --- --- --- PASS C9orf86 55684 broad.mit.edu 37 9 139717980 139717980 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:139717980A>T uc004cji.1 + 2 402 c.134A>T c.(133-135)AAG>ATG p.K45M C9orf86_uc004cjm.2_Missense_Mutation_p.K45M|C9orf86_uc004cjh.2_Missense_Mutation_p.K45M|C9orf86_uc004cjj.1_Missense_Mutation_p.K45M|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.K45M|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_5'Flank NM_024718 NP_078994 Q3YEC7 PARF_HUMAN Rab-like GTP-binding protein 1 isoform 1 45 Small GTPase-like. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) TCCCCAGTGAAGATAGTGATC 0.562 8 44 --- --- --- --- PASS C9orf86 55684 broad.mit.edu 37 9 139733427 139733427 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:139733427C>T uc004cji.1 + 11 1615 c.1347C>T c.(1345-1347)GAC>GAT p.D449D C9orf86_uc004cjj.1_Silent_p.D450D|C9orf86_uc004cjk.1_Intron|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Silent_p.D334D|C9orf86_uc004cjn.1_Silent_p.D243D NM_024718 NP_078994 Q3YEC7 PARF_HUMAN Rab-like GTP-binding protein 1 isoform 1 449 small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) ACCTCGAAGACCAGCCACGTG 0.637 4 18 --- --- --- --- PASS MAMDC4 158056 broad.mit.edu 37 9 139748318 139748318 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:139748318G>C uc004cjs.2 + 5 594 c.544G>C c.(544-546)GAG>CAG p.E182Q MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 182 Extracellular (Potential).|MAM 1. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGGCTGGCAGGAGTTGGCAGT 0.657 3 58 --- --- --- --- PASS PNPLA7 375775 broad.mit.edu 37 9 140361888 140361888 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr9:140361888C>T uc004cnf.2 - 25 3182 c.2845G>A c.(2845-2847)GAG>AAG p.E949K C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.E215K|PNPLA7_uc004cne.1_Missense_Mutation_p.E215K|PNPLA7_uc011mfa.1_Missense_Mutation_p.E357K|PNPLA7_uc010ncj.1_Missense_Mutation_p.E974K NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 949 Patatin. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ATGCCGCACTCCGCCAAGGCC 0.652 15 66 --- --- --- --- PASS LARP4B 23185 broad.mit.edu 37 10 930416 930416 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:930416G>A uc001ifs.1 - 2 153 c.112C>T c.(112-114)CAG>TAG p.Q38* NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 38 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 GAACTTGTCTGAGAAGTGGTT 0.328 14 102 --- --- --- --- PASS GATA3 2625 broad.mit.edu 37 10 8100519 8100519 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:8100519C>A uc001ika.2 + 3 1050 c.493C>A c.(493-495)CCA>ACA p.P165T GATA3_uc001ijz.2_Missense_Mutation_p.P165T NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 165 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CTCCCCGGACCCATCGCTGTC 0.706 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 83 27 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12148367 12148367 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:12148367G>T uc001ild.3 + 11 2118 c.2019G>T c.(2017-2019)CAG>CAT p.Q673H NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 673 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATGGTGCCCAGATCATCTTTG 0.542 8 325 --- --- --- --- PASS KIAA1217 56243 broad.mit.edu 37 10 24813693 24813693 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:24813693G>A uc001iru.3 + 13 3301 c.2898G>A c.(2896-2898)GAG>GAA p.E966E KIAA1217_uc001irs.2_Silent_p.E886E|KIAA1217_uc001irt.3_Silent_p.E931E|KIAA1217_uc010qcy.1_Silent_p.E931E|KIAA1217_uc010qcz.1_Silent_p.E931E|KIAA1217_uc001irv.1_Silent_p.E781E|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Silent_p.E649E|KIAA1217_uc001irz.2_Silent_p.E649E|KIAA1217_uc001irx.2_Silent_p.E649E|KIAA1217_uc001iry.2_Silent_p.E649E NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 966 Potential. embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TGTCTATCGAGGTAGAGTCCT 0.448 40 18 --- --- --- --- PASS MTPAP 55149 broad.mit.edu 37 10 30602839 30602839 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:30602839G>A uc001iva.3 - 9 1511 c.1448C>T c.(1447-1449)TCT>TTT p.S483F MTPAP_uc001ivb.3_Missense_Mutation_p.S613F NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 483 PAP-associated. cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 TATGTTGAGAGAAGTTTCAAA 0.368 5 239 --- --- --- --- PASS MTPAP 55149 broad.mit.edu 37 10 30615386 30615386 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:30615386G>A uc001iva.3 - 5 1022 c.959C>T c.(958-960)TCC>TTC p.S320F MTPAP_uc001ivb.3_Missense_Mutation_p.S450F NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 320 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 CTGAAATCCGGAGGCCTGGTG 0.423 37 225 --- --- --- --- PASS LYZL2 119180 broad.mit.edu 37 10 30918578 30918578 + Silent SNP G A A rs140215273 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:30918578G>A uc001ivk.2 - 1 70 c.57C>T c.(55-57)TCC>TCT p.S19S NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 Error:Variant_position_missing_in_Q7Z4W2_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) TTGAGTCTGCGGAAGAAACAC 0.517 70 30 --- --- --- --- PASS C10orf68 79741 broad.mit.edu 37 10 33103371 33103371 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:33103371G>C uc001iwn.3 + 12 1457 c.984G>C c.(982-984)AAG>AAC p.K328N C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.K304N|C10orf68_uc010qei.1_Missense_Mutation_p.K276N|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 328 skin(2)|ovary(1) 3 CACGATCAAAGAGTCTCCCTG 0.343 33 233 --- --- --- --- PASS CSGALNACT2 55454 broad.mit.edu 37 10 43650712 43650712 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:43650712G>C uc001jan.2 + 2 450 c.115G>C c.(115-117)GAT>CAT p.D39H CSGALNACT2_uc001jam.1_Missense_Mutation_p.D39H NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 39 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 CCCCCAGACTGATGGAAATGC 0.468 21 160 --- --- --- --- PASS RASGEF1A 221002 broad.mit.edu 37 10 43694588 43694588 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:43694588G>A uc001jap.1 - 8 985 c.904C>T c.(904-906)CGG>TGG p.R302W RASGEF1A_uc001jao.1_Missense_Mutation_p.R310W NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 302 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AAGCACTCCCGGGCCACATCA 0.617 42 10 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61112201 61112201 + Silent SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:61112201T>A uc001jkn.2 - 4 287 c.153A>T c.(151-153)GCA>GCT p.A51A FAM13C_uc001jko.2_Silent_p.A51A|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.A73A|FAM13C_uc001jkp.2_5'UTR NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 51 ovary(2) 2 CCAGAGCCCCTGCGTCGGGGT 0.502 4 26 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 62023652 62023652 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:62023652C>T uc001jky.2 - 6 832 c.640G>A c.(640-642)GAC>AAC p.D214N ANK3_uc010qih.1_Missense_Mutation_p.D197N|ANK3_uc001jkz.3_Missense_Mutation_p.D208N|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 214 ANK 5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GCTTTCGTGTCGTCTTTTCGG 0.547 17 47 --- --- --- --- PASS ARID5B 84159 broad.mit.edu 37 10 63759929 63759929 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:63759929C>G uc001jlt.1 + 4 608 c.582C>G c.(580-582)ATC>ATG p.I194M ARID5B_uc010qil.1_Missense_Mutation_p.I194M NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 194 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) TGAAACGCATCCAGGATAAGC 0.537 21 50 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68040264 68040264 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:68040264T>C uc009xpn.1 - 13 1971 c.1848A>G c.(1846-1848)ACA>ACG p.T616T CTNNA3_uc001jmw.2_Silent_p.T616T NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 616 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.T616P(1) skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TATCATGAATTGTATCATAGA 0.368 30 76 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68686899 68686899 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:68686899A>C uc001jmz.1 + 2 775 c.225A>C c.(223-225)AAA>AAC p.K75N CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.K75N NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 75 Extracellular (Potential).|LRR 1. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GCCTTCAAAAACTTAAGTATA 0.373 38 110 --- --- --- --- PASS SGPL1 8879 broad.mit.edu 37 10 72614558 72614558 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:72614558C>T uc001jrm.2 + 5 577 c.355C>T c.(355-357)CAG>TAG p.Q119* NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 119 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) TTTACCCTCCCAGGGTCTGAG 0.413 70 172 --- --- --- --- PASS UNC5B 219699 broad.mit.edu 37 10 73053268 73053268 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:73053268G>A uc001jro.2 + 12 2324 c.1879G>A c.(1879-1881)GAA>AAA p.E627K UNC5B_uc001jrp.2_Missense_Mutation_p.E616K NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 627 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 CCACTGTGCCGAAGTCAGTGC 0.637 41 98 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73544071 73544071 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:73544071G>A uc001jrx.3 + 40 5773 c.5396G>A c.(5395-5397)GGG>GAG p.G1799E NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1799 Cadherin 17.|Extracellular (Potential). 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 central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCTGTGGAGGGGGTGCTAAGG 0.622 22 43 --- --- --- --- PASS KCNMA1 3778 broad.mit.edu 37 10 78880778 78880778 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:78880778C>T uc001jxn.2 - 6 1014 c.837G>A c.(835-837)CTG>CTA p.L279L KCNMA1_uc001jxj.2_Silent_p.L279L|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Silent_p.L99L|KCNMA1_uc001jxo.2_Silent_p.L279L|KCNMA1_uc001jxm.2_Silent_p.L279L|KCNMA1_uc001jxq.2_Silent_p.L279L NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 279 Helical; Name=Segment S4; (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AAAACTGTATCAGTCTCAGAG 0.328 11 46 --- --- --- --- PASS HECTD2 143279 broad.mit.edu 37 10 93252127 93252127 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:93252127G>T uc001khl.2 + 13 1418 c.1318G>T c.(1318-1320)GAT>TAT p.D440Y LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.D444Y|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.D29Y|HECTD2_uc001khn.1_Missense_Mutation_p.D90Y NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 440 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 GAAAAGAGCCGATTTGAAAAA 0.343 41 78 --- --- --- --- PASS C10orf12 26148 broad.mit.edu 37 10 98744488 98744488 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:98744488A>T uc001kmv.2 + 1 3448 c.3341A>T c.(3340-3342)CAT>CTT p.H1114L NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 1114 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAAGAAAAGCATGCTGATGGA 0.507 16 44 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98778804 98778804 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:98778804T>C uc001kmw.2 - 27 3059 c.2807A>G c.(2806-2808)AAC>AGC p.N936S NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 936 EGF-like 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGTGCCCTGGTTCTGGCACGG 0.433 5 18 --- --- --- --- PASS HPSE2 60495 broad.mit.edu 37 10 100503730 100503730 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:100503730G>A uc001kpn.1 - 4 754 c.694C>T c.(694-696)CCC>TCC p.P232S HPSE2_uc009xwc.1_Missense_Mutation_p.P222S|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 232 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GAGTTATTGGGATTACGACGC 0.448 29 98 --- --- --- --- PASS ABCC2 1244 broad.mit.edu 37 10 101578643 101578643 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:101578643G>T uc001kqf.2 + 18 2507 c.2368G>T c.(2368-2370)GCA>TCA p.A790S NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 790 Cytoplasmic (By similarity).|ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCCCCTGTCTGCAGTGGATGC 0.443 25 41 --- --- --- --- PASS CPN1 1369 broad.mit.edu 37 10 101835789 101835789 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:101835789G>A uc001kql.2 - 2 559 c.299C>T c.(298-300)TCG>TTG p.S100L NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 100 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CAGAAACTCCGACAGCTGCAG 0.587 24 68 --- --- --- --- PASS CHUK 1147 broad.mit.edu 37 10 101964284 101964284 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:101964284C>A uc001kqp.2 - 13 1541 c.1486G>T c.(1486-1488)GAG>TAG p.E496* NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 496 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) GTCATCTGCTCGCTGTATCTC 0.383 39 101 --- --- --- --- PASS FGF8 2253 broad.mit.edu 37 10 103531278 103531278 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:103531278C>T uc001ktp.1 - 5 523 c.353G>A c.(352-354)CGA>CAA p.R118Q FGF8_uc001ktq.1_Missense_Mutation_p.R129Q|FGF8_uc001ktr.1_Missense_Mutation_p.R100Q|FGF8_uc001kts.1_Missense_Mutation_p.R89Q|FGF8_uc009xwr.1_Missense_Mutation_p.R25Q NM_033164 NP_149354 P55075 FGF8_HUMAN fibroblast growth factor 8 isoform E precursor 118 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CTCGGCTCCTCGGACTCGAAC 0.602 20 48 --- --- --- --- PASS MGEA5 10724 broad.mit.edu 37 10 103550821 103550821 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:103550821G>A uc001ktv.2 - 14 2729 c.2286C>T c.(2284-2286)CTC>CTT p.L762L MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Silent_p.L709L|MGEA5_uc009xws.2_Silent_p.L695L NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 762 Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) AATCCAGGCTGAGGGAAAGCA 0.418 27 61 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104140380 104140380 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:104140380G>A uc001kux.1 + 38 5347 c.5107G>A c.(5107-5109)GAA>AAA p.E1703K GBF1_uc001kuy.1_Missense_Mutation_p.E1699K|GBF1_uc001kuz.1_Missense_Mutation_p.E1700K NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1703 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GATCACCTGGGAACGCATTGA 0.552 11 542 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 107005329 107005329 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:107005329C>A uc001kyi.1 + 21 3125 c.2898C>A c.(2896-2898)TCC>TCA p.S966S SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 966 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCAGCATTTCCTTCACATTCC 0.453 44 117 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 107006977 107006977 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:107006977A>G uc001kyi.1 + 22 3220 c.2993A>G c.(2992-2994)GAA>GGA p.E998G SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 998 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCCCTGCAGAATATTTCCAG 0.453 10 36 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115374675 115374675 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:115374675G>A uc001laj.2 - 28 3273 c.3109C>T c.(3109-3111)CGA>TGA p.R1037* NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Nonsense_Mutation_p.R1002*|NRAP_uc001lal.3_Nonsense_Mutation_p.R1037* NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1037 Nebulin 26. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CCACCATCTCGAAGTTTGCTC 0.468 24 72 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117075194 117075194 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:117075194C>A uc001lcg.2 + 18 3371 c.2985C>A c.(2983-2985)ACC>ACA p.T995T ATRNL1_uc010qsm.1_Silent_p.T170T|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 995 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTCTTGACACCAATCTTTGCC 0.408 31 83 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118318783 118318783 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:118318783A>T uc001lcm.2 + 10 1091 c.1048A>T c.(1048-1050)AGT>TGT p.S350C NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 350 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGGTGATGCCAGTAATTTTGC 0.363 22 55 --- --- --- --- PASS PRLHR 2834 broad.mit.edu 37 10 120353838 120353838 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:120353838C>G uc001ldp.1 - 2 1058 c.919G>C c.(919-921)GCC>CCC p.A307P NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 307 Extracellular (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GGGTCGATGGCGTGGGGGTCG 0.647 16 46 --- --- --- --- PASS WDR11 55717 broad.mit.edu 37 10 122618251 122618251 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:122618251G>C uc010qtf.1 + 3 533 c.295G>C c.(295-297)GAT>CAT p.D99H WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 99 WD 1. integral to membrane 0 CATCGTCTGGGATGTAGCAGC 0.463 11 42 --- --- --- --- PASS WDR11 55717 broad.mit.edu 37 10 122664830 122664830 + Splice_Site SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:122664830G>A uc010qtf.1 + 26 3432 c.3194_splice c.e26-1 p.E1065_splice WDR11_uc010qte.1_Splice_Site_p.E667_splice|WDR11_uc001lfd.1_Splice_Site_p.E583_splice|WDR11_uc009xzn.2_Splice_Site_p.E356_splice|uc001lfe.1_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 integral to membrane 0 TTGTCTTTCAGAGGGCGTTCA 0.502 36 75 --- --- --- --- PASS ZRANB1 54764 broad.mit.edu 37 10 126660603 126660603 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:126660603G>A uc001lic.2 + 3 1443 c.1072G>A c.(1072-1074)GAG>AAG p.E358K ZRANB1_uc010qug.1_Missense_Mutation_p.E384K NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 358 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AATCCGGAGAGAGATAGCTGC 0.418 44 109 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129911827 129911827 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:129911827G>A uc001lke.2 - 8 1715 c.1520C>T c.(1519-1521)TCC>TTC p.S507F MKI67_uc001lkf.2_Missense_Mutation_p.S147F|MKI67_uc009yav.1_Missense_Mutation_p.S82F|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 507 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCCACCAAAGGACACACGCCT 0.418 37 91 --- --- --- --- PASS DPYSL4 10570 broad.mit.edu 37 10 134006222 134006222 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:134006222G>T uc009ybb.2 + 3 343 c.189G>T c.(187-189)CTG>CTT p.L63L NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 63 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CCCACGGCCTGATGGTCCTTC 0.587 37 49 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 134996995 134996995 + Splice_Site SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:134996995G>A uc001llz.1 + 4 508 c.507_splice c.e4+1 p.E169_splice KNDC1_uc001lma.1_Splice_Site_p.E104_splice NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGACCTTGAGGTAAGCGAGGC 0.701 8 10 --- --- --- --- PASS ANO9 338440 broad.mit.edu 37 11 428392 428392 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:428392G>A uc001lpi.2 - 14 1273 c.1188C>T c.(1186-1188)ATC>ATT p.I396I ANO9_uc001lph.2_Silent_p.I89I|ANO9_uc010qvv.1_Silent_p.I252I NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 396 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CGCACCTGTTGATCTGCGGAG 0.672 15 37 --- --- --- --- PASS OR52N2 390077 broad.mit.edu 37 11 5842405 5842405 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:5842405C>A uc010qzp.1 + 1 840 c.840C>A c.(838-840)GCC>GCA p.A280A TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATCGTGGCCAACCTTTATC 0.398 82 42 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862858 5862858 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:5862858A>G uc010qzq.1 - 1 270 c.270T>C c.(268-270)AAT>AAC p.N90N TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCCTTGATATTGAACCAGA 0.473 81 74 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7067933 7067933 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:7067933C>A uc001mfb.1 + 5 2316 c.1993C>A c.(1993-1995)CTC>ATC p.L665I NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 665 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTGGCAAGATCTCTGTTCTGT 0.378 55 153 --- --- --- --- PASS RBMXL2 27288 broad.mit.edu 37 11 7111393 7111393 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:7111393C>A uc001mfc.2 + 1 1229 c.1042C>A c.(1042-1044)CGT>AGT p.R348S NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 348 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGACCAGATCGTGGGCTCTC 0.672 12 20 --- --- --- --- PASS DENND5A 23258 broad.mit.edu 37 11 9167307 9167307 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:9167307G>A uc001mhl.2 - 17 3168 c.2913C>T c.(2911-2913)TTC>TTT p.F971F DENND5A_uc001mhk.2_Silent_p.F314F|DENND5A_uc010rbw.1_Silent_p.F971F|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 971 PLAT. liver(1) 1 GGTTGGCAGTGAACATGGAGC 0.468 38 370 --- --- --- --- PASS SBF2 81846 broad.mit.edu 37 11 10052684 10052684 + Missense_Mutation SNP T C C rs139730490 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:10052684T>C uc001mib.2 - 4 451 c.313A>G c.(313-315)AAA>GAA p.K105E SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 105 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CCAGACACTTTTGCTTCACCT 0.378 126 74 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20676280 20676280 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:20676280C>T uc001mqd.2 + 16 2533 c.2260C>T c.(2260-2262)CCA>TCA p.P754S SLC6A5_uc009yic.2_Missense_Mutation_p.P519S NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 754 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) GGTGTGCTCGCCACAGCCGGA 0.562 67 57 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 21556041 21556041 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:21556041G>C uc001mqe.2 + 16 1920 c.1767G>C c.(1765-1767)CTG>CTC p.L589L NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Silent_p.L617L|NELL1_uc010rdo.1_Silent_p.L532L|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Missense_Mutation_p.C199S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 589 EGF-like 5; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CCTATTCACTGTCCGGGGAGT 0.542 35 37 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26663549 26663549 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:26663549G>T uc001mqt.3 + 22 2393 c.2248G>T c.(2248-2250)GGA>TGA p.G750* ANO3_uc010rdr.1_Nonsense_Mutation_p.G734*|ANO3_uc010rds.1_Nonsense_Mutation_p.G589*|ANO3_uc010rdt.1_Nonsense_Mutation_p.G604* NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 750 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAACCTTCATGGACTGATGGA 0.418 71 32 --- --- --- --- PASS SLC5A12 159963 broad.mit.edu 37 11 26743234 26743234 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:26743234C>T uc001mra.2 - 1 341 c.28G>A c.(28-30)GAT>AAT p.D10N SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Missense_Mutation_p.D10N NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 10 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 ACAACATAATCCCAAACTGCA 0.418 27 104 --- --- --- --- PASS CCDC73 493860 broad.mit.edu 37 11 32674691 32674691 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:32674691T>A uc001mtv.2 - 12 961 c.917A>T c.(916-918)AAG>ATG p.K306M CCDC73_uc001mtw.1_Missense_Mutation_p.K296M NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 306 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTTTAGCACCTTCAATTCTGC 0.264 50 39 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33566887 33566887 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:33566887G>T uc001mup.3 + 2 2599 c.2475G>T c.(2473-2475)CTG>CTT p.L825L C11orf41_uc001mun.1_Silent_p.L825L NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 819 integral to membrane ovary(2) 2 CATCCAACCTGGAGTGTCAGA 0.527 12 9 --- --- --- --- PASS TRIM44 54765 broad.mit.edu 37 11 35747495 35747495 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:35747495G>A uc001mwi.2 + 3 1078 c.771G>A c.(769-771)ATG>ATA p.M257I NM_017583 NP_060053 Q96DX7 TRI44_HUMAN DIPB protein 257 intracellular protein binding|zinc ion binding skin(1) 1 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) AAATGAAGATGTTTATACAGC 0.403 37 31 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136617 40136617 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:40136617C>T uc001mxa.1 - 2 3190 c.1226G>A c.(1225-1227)GGT>GAT p.G409D LRRC4C_uc001mxc.1_Missense_Mutation_p.G405D|LRRC4C_uc001mxd.1_Missense_Mutation_p.G405D|LRRC4C_uc001mxb.1_Missense_Mutation_p.G405D NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 409 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) ATTTAACGTACCATCACTGAG 0.458 53 157 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136954 40136954 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:40136954G>T uc001mxa.1 - 2 2853 c.889C>A c.(889-891)CAT>AAT p.H297N LRRC4C_uc001mxc.1_Missense_Mutation_p.H293N|LRRC4C_uc001mxd.1_Missense_Mutation_p.H293N|LRRC4C_uc001mxb.1_Missense_Mutation_p.H293N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 297 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TGATGTAAATGTATCCGCTCT 0.478 70 70 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432923 55432923 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:55432923G>T uc001nht.3 + 3 546 c.281G>T c.(280-282)GGC>GTC p.G94V OR4C6_uc010rik.1_Missense_Mutation_p.G94V NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCTCTCAAAGGCTGCCTCACC 0.522 60 53 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433293 55433293 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:55433293G>T uc001nht.3 + 3 916 c.651G>T c.(649-651)ACG>ACT p.T217T OR4C6_uc010rik.1_Silent_p.T217T NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CGTCCTACACGGTCATCCTAT 0.522 34 88 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606570 55606570 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:55606570A>T uc010rio.1 + 1 343 c.343A>T c.(343-345)ATT>TTT p.I115F NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) GACTGAATTAATTCTATTTGC 0.438 62 144 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735665 55735665 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:55735665A>G uc010rit.1 - 1 275 c.275T>C c.(274-276)ATG>ACG p.M92T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 92 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AAAAAAACACATTTGTGTAGC 0.403 85 71 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 55999618 55999618 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:55999618C>A uc010rjc.1 - 1 1044 c.1044G>T c.(1042-1044)CAG>CAT p.Q348H NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 348 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TATTGATAACCTGATTTTTCC 0.299 48 27 --- --- --- --- PASS P2RX3 5024 broad.mit.edu 37 11 57117248 57117248 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:57117248A>T uc001nju.2 + 7 657 c.581A>T c.(580-582)AAC>ATC p.N194I NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 194 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CTCCTTCCCAACCTGACAGCC 0.617 OREG0020966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 18 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58979633 58979633 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:58979633C>T uc001nnu.3 - 1 862 c.706G>A c.(706-708)GTG>ATG p.V236M NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 236 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GAGGCGGTCACGGCACTACGA 0.542 13 55 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58980144 58980144 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:58980144C>G uc001nnu.3 - 1 351 c.195G>C c.(193-195)TTG>TTC p.L65F NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 65 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) TGGAGTAAGTCAATTCCATAA 0.478 125 76 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62286541 62286541 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:62286541T>C uc001ntl.2 - 5 15648 c.15348A>G c.(15346-15348)GAA>GAG p.E5116E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5116 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GTGCCTGGAGTTCACCCTCCA 0.483 3 85 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64434752 64434752 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:64434752G>A uc001oar.2 - 10 2207 c.1768C>T c.(1768-1770)CAC>TAC p.H590Y NRXN2_uc001oas.2_Missense_Mutation_p.H559Y|NRXN2_uc001oaq.2_Missense_Mutation_p.H257Y NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 AAGTCCACGTGACACCACTCG 0.602 26 71 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64677516 64677516 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:64677516A>C uc001obx.2 - 13 1974 c.1859T>G c.(1858-1860)CTG>CGG p.L620R NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 620 protein binding ovary(1)|central_nervous_system(1) 2 TCTCACCAGCAGGCCGGCTGG 0.731 23 15 --- --- --- --- PASS DPF2 5977 broad.mit.edu 37 11 65107889 65107889 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:65107889G>A uc001odm.2 + 2 78 c.66G>A c.(64-66)GAG>GAA p.E22E DPF2_uc001odn.2_Silent_p.E22E|DPF2_uc010roe.1_Silent_p.E22E NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 22 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 ATGCCATGGAGCAGTGCCACA 0.547 65 167 --- --- --- --- PASS SLC25A45 283130 broad.mit.edu 37 11 65147353 65147353 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:65147353A>G uc001odp.1 - 3 560 c.138T>C c.(136-138)ATT>ATC p.I46I SLC25A45_uc009yqi.1_Silent_p.I46I|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001odr.1_Silent_p.I46I|SLC25A45_uc001ods.1_Silent_p.I4I|SLC25A45_uc001odt.1_Silent_p.I4I NM_001077241 NP_001070709 Q8N413 S2545_HUMAN solute carrier family 25, member 45 isoform b 46 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 CATGGCGGTAAATCTTGACCA 0.617 15 46 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66457282 66457282 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:66457282G>A uc001ojd.2 - 28 6015 c.5943C>T c.(5941-5943)GCC>GCT p.A1981A SPTBN2_uc001ojc.1_5'Flank NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1981 Spectrin 16. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCACCTCCTCGGCCGCATAGT 0.607 36 145 --- --- --- --- PASS TBC1D10C 374403 broad.mit.edu 37 11 67177104 67177104 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:67177104G>A uc001ola.2 + 10 1249 c.1220G>A c.(1219-1221)CGG>CAG p.R407Q PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 407 Interaction with calcineurin. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCACCGCGGCGGAAACCCCAG 0.711 3 7 --- --- --- --- PASS RPS6KB2 6199 broad.mit.edu 37 11 67202553 67202553 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:67202553G>T uc001old.2 + 15 1444 c.1362G>T c.(1360-1362)CCG>CCT p.P454P RPS6KB2_uc001olf.2_Silent_p.P254P|RPS6KB2_uc001olg.2_3'UTR|RPS6KB2_uc009yrq.2_3'UTR|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.P285P NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 454 Pro-rich. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1) 7 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) tgccaccgccgccgccctcga 0.458 22 25 --- --- --- --- PASS MRGPRD 116512 broad.mit.edu 37 11 68747787 68747787 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:68747787G>A uc010rqf.1 - 1 669 c.669C>T c.(667-669)GTC>GTT p.V223V NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 223 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGAGGCCAGGACCACCACGA 0.612 9 46 --- --- --- --- PASS FAM181B 220382 broad.mit.edu 37 11 82443575 82443575 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:82443575G>T uc001ozp.2 - 1 1332 c.1197C>A c.(1195-1197)TAC>TAA p.Y399* NM_175885 NP_787081 A6NEQ2 F181B_HUMAN hypothetical protein LOC220382 399 large_intestine(1) 1 CGGTGCGGCTGTAGCCCGCGC 0.692 12 4 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89424640 89424640 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:89424640T>A uc001pda.2 + 12 1516 c.990T>A c.(988-990)AAT>AAA p.N330K NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 330 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 CAGTAAAAAATTTTACAGAAA 0.269 27 33 --- --- --- --- PASS MRE11A 4361 broad.mit.edu 37 11 94180480 94180480 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:94180480G>A uc001peu.2 - 15 1877 c.1688C>T c.(1687-1689)TCA>TTA p.S563L MRE11A_uc001pev.2_Missense_Mutation_p.S563L|MRE11A_uc009ywj.2_Missense_Mutation_p.S566L NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 563 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) GGTTGCTGCTGAGATGCTATC 0.483 Homologous_recombination Ataxia-Telangiectasia-Like_Disorder 15 201 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95826149 95826149 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:95826149T>G uc001pfw.1 - 2 2331 c.1046A>C c.(1045-1047)CAG>CCG p.Q349P NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 349 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TGTGCTCCTCTGGCTTTGCTG 0.502 T MECT1|CRTC3 salivary gland mucoepidermoid 40 34 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101833366 101833366 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:101833366A>G uc001pgm.2 + 6 1870 c.1600A>G c.(1600-1602)AAA>GAA p.K534E KIAA1377_uc001pgn.2_Missense_Mutation_p.K490E|KIAA1377_uc010run.1_Missense_Mutation_p.K335E|KIAA1377_uc009yxa.1_Missense_Mutation_p.K335E NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 534 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TCCTGATTCAAAAGATGAAAA 0.299 37 23 --- --- --- --- PASS MMP20 9313 broad.mit.edu 37 11 102464193 102464193 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:102464193G>C uc001phc.2 - 8 1237 c.1224C>G c.(1222-1224)TTC>TTG p.F408L NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 408 Hemopexin-like 3. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CTCCCACAAAGAAAAGGGTCT 0.393 25 67 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 102991224 102991224 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:102991224G>T uc001pho.2 + 7 1192 c.1048G>T c.(1048-1050)GCC>TCC p.A350S DYNC2H1_uc001phn.1_Missense_Mutation_p.A350S|DYNC2H1_uc009yxe.1_Missense_Mutation_p.A350S NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 350 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTTTCTACCTGCCAGTGAAGA 0.323 151 97 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103025457 103025457 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:103025457G>A uc001pho.2 + 24 3636 c.3492G>A c.(3490-3492)ATG>ATA p.M1164I DYNC2H1_uc001phn.1_Missense_Mutation_p.M1164I|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1164 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATTTTTGATGAACTGGCATG 0.294 3 5 --- --- --- --- PASS CASP5 838 broad.mit.edu 37 11 104874003 104874003 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:104874003C>T uc010rva.1 - 4 573 c.541G>A c.(541-543)GAG>AAG p.E181K CASP5_uc010ruz.1_Missense_Mutation_p.E194K|CASP5_uc010rvb.1_Missense_Mutation_p.E123K|CASP5_uc010rvc.1_Missense_Mutation_p.E39K|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 181 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CACAGCACCTCATCATGATTT 0.343 39 102 --- --- --- --- PASS CARD16 114769 broad.mit.edu 37 11 104912298 104912298 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:104912298A>G uc001pip.1 - 3 450 c.423T>C c.(421-423)AGT>AGC p.S141S CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 141 regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 TATATCTTTCACTCCACTTTA 0.398 38 94 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108098502 108098502 + Splice_Site SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:108098502G>A uc001pkb.1 + 3 458 c.73_splice c.e3-1 p.K25_splice ATM_uc009yxr.1_Splice_Site_p.K25_splice|ATM_uc001pkc.1_Splice_Site_p.K25_splice NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTATTTTCAGAAAGAAGTTG 0.308 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 26 122 --- --- --- --- PASS DDX10 1662 broad.mit.edu 37 11 108549060 108549060 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:108549060G>C uc001pkm.2 + 5 621 c.556G>C c.(556-558)GAG>CAG p.E186Q DDX10_uc001pkl.1_Missense_Mutation_p.E186Q NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 186 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACACGAAGCTGAGAGGATCAA 0.403 T NUP98 AML* 4 104 --- --- --- --- PASS ZW10 9183 broad.mit.edu 37 11 113608312 113608312 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:113608312G>C uc001poe.2 - 14 2035 c.1998C>G c.(1996-1998)GGC>GGG p.G666G ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 666 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) CAGTAATTTTGCCAATGACCT 0.418 51 141 --- --- --- --- PASS HTR3A 3359 broad.mit.edu 37 11 113857404 113857404 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:113857404C>T uc010rxb.1 + 7 1121 c.888C>T c.(886-888)ATC>ATT p.I296I HTR3A_uc010rxa.1_Silent_p.I296I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I275I NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 290 Helical; Name=2; (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TCCTGATCATCGTTTCTGACA 0.597 32 71 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114453663 114453663 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:114453663C>G uc001ppc.2 - 3 358 c.177G>C c.(175-177)CTG>CTC p.L59L FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 59 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TTAATGATATCAGTGGTGTTT 0.418 8 264 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116729308 116729308 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:116729308G>A uc001ppy.2 - 20 2591 c.2555C>T c.(2554-2556)ACA>ATA p.T852I SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Missense_Mutation_p.T155I NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 852 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CCCCACTCCTGTTGAAGGGCT 0.582 53 102 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118376003 118376003 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:118376003C>G uc001pta.2 + 27 9410 c.9387C>G c.(9385-9387)CTC>CTG p.L3129L MLL_uc001ptb.2_Silent_p.L3132L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3129 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAGGTGGTCTCACCCTTACCA 0.458 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 7 225 --- --- --- --- PASS NLRX1 79671 broad.mit.edu 37 11 119045386 119045386 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:119045386G>T uc001pvu.2 + 6 1289 c.1074G>T c.(1072-1074)CTG>CTT p.L358L NLRX1_uc010rzc.1_Silent_p.L180L|NLRX1_uc001pvv.2_Silent_p.L358L|NLRX1_uc001pvw.2_Silent_p.L358L|NLRX1_uc001pvx.2_Silent_p.L358L NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 358 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCGGAACCTGGAGGGGCACC 0.642 78 56 --- --- --- --- PASS NLRX1 79671 broad.mit.edu 37 11 119045387 119045387 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:119045387G>T uc001pvu.2 + 6 1290 c.1075G>T c.(1075-1077)GAG>TAG p.E359* NLRX1_uc010rzc.1_Nonsense_Mutation_p.E181*|NLRX1_uc001pvv.2_Nonsense_Mutation_p.E359*|NLRX1_uc001pvw.2_Nonsense_Mutation_p.E359*|NLRX1_uc001pvx.2_Nonsense_Mutation_p.E359* NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 359 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCGGAACCTGGAGGGGCACCA 0.637 75 56 --- --- --- --- PASS OAF 220323 broad.mit.edu 37 11 120096498 120096498 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:120096498C>T uc001pxb.2 + 2 601 c.360C>T c.(358-360)CTC>CTT p.L120L NM_178507 NP_848602 Q86UD1 OAF_HUMAN OAF homolog precursor 120 0 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) TGGCCAAGCTCCGGCAGGTAA 0.657 42 107 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121028649 121028649 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:121028649G>C uc010rzo.1 + 13 4405 c.4405G>C c.(4405-4407)GAG>CAG p.E1469Q NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1469 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTCAGACGAGGAGTGTGCGCT 0.662 4 80 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900989 123900989 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:123900989C>G uc001pzp.1 + 1 660 c.660C>G c.(658-660)ATC>ATG p.I220M NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ATGTGTCCATCGTCTGTTCCA 0.542 33 91 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294594 124294594 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:124294594G>T uc010sak.1 - 1 174 c.174C>A c.(172-174)CCC>CCA p.P58P NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AAAAGTACATGGGGGTGTGAA 0.408 20 45 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294596 124294596 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:124294596G>C uc010sak.1 - 1 172 c.172C>G c.(172-174)CCC>GCC p.P58A NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AAGTACATGGGGGTGTGAAGG 0.413 20 45 --- --- --- --- PASS BARX2 8538 broad.mit.edu 37 11 129321282 129321282 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:129321282C>A uc001qfc.3 + 4 875 c.825C>A c.(823-825)CCC>CCA p.P275P NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 275 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CTTCGGAACCCCCACCATTAA 0.537 34 23 --- --- --- --- PASS ST14 6768 broad.mit.edu 37 11 130064581 130064581 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:130064581C>T uc001qfw.2 + 9 1255 c.1062C>T c.(1060-1062)CCC>CCT p.P354P ST14_uc010sca.1_Silent_p.P164P NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 354 CUB 2.|Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCAACAGCCCCTACTACCCAG 0.507 40 28 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 332341 332341 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:332341C>A uc001qic.1 - 12 1424 c.1371G>T c.(1369-1371)CTG>CTT p.L457L SLC6A13_uc009zdj.1_Silent_p.L447L|SLC6A13_uc010sdl.1_Silent_p.L365L NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 457 Helical; Name=10; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TGGCCACGAACAGGAGGCACA 0.522 27 25 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1949924 1949924 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:1949924C>G uc001qjp.2 - 26 2763 c.2532G>C c.(2530-2532)AAG>AAC p.K844N CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.K708N|CACNA2D4_uc009zdr.1_RNA NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 844 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGGCTGTCCTCTTGTCCACGG 0.582 18 150 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7640016 7640016 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:7640016A>G uc001qsz.3 - 8 2117 c.1989T>C c.(1987-1989)CCT>CCC p.P663P CD163_uc001qta.3_Silent_p.P663P|CD163_uc009zfw.2_Silent_p.P696P NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 663 SRCR 6.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GAGCAGTTACAGGACAATCTC 0.498 62 48 --- --- --- --- PASS CLEC4C 170482 broad.mit.edu 37 12 7882195 7882195 + Missense_Mutation SNP T C C rs147980423 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:7882195T>C uc001qtg.1 - 6 813 c.639A>G c.(637-639)ATA>ATG p.I213M CLEC4C_uc001qth.1_Missense_Mutation_p.I213M|CLEC4C_uc001qti.1_Missense_Mutation_p.I182M NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 213 Extracellular (Potential). innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) ATTTCATTTATATGTAGATCT 0.353 127 64 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14650888 14650888 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:14650888C>G uc001rbw.2 + 15 3852 c.3694C>G c.(3694-3696)CAG>GAG p.Q1232E ATF7IP_uc001rbx.2_Missense_Mutation_p.Q1231E|ATF7IP_uc001rby.3_Missense_Mutation_p.Q1232E|ATF7IP_uc001rca.2_Missense_Mutation_p.Q1232E NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1232 Interaction with MBD1.|Fibronectin type-III. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TACTCTCACCCAGTTTGTATC 0.473 6 293 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14650988 14650988 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:14650988C>G uc001rbw.2 + 15 3952 c.3794C>G c.(3793-3795)TCT>TGT p.S1265C ATF7IP_uc001rbx.2_Missense_Mutation_p.S1264C|ATF7IP_uc001rby.3_Missense_Mutation_p.S1265C|ATF7IP_uc001rca.2_Missense_Mutation_p.S1265C NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1265 Interaction with MBD1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GATGTGATCTCTTCTACCCAG 0.393 11 671 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15654883 15654883 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:15654883G>C uc001rcv.1 + 5 1165 c.991G>C c.(991-993)GAG>CAG p.E331Q PTPRO_uc001rcw.1_Missense_Mutation_p.E331Q|PTPRO_uc001rcu.1_Missense_Mutation_p.E331Q NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 331 Fibronectin type-III 4.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CAGTGAGACAGAGAAGTCAAC 0.443 14 161 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20801636 20801636 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:20801636C>T uc001reh.1 + 13 2602 c.2580C>T c.(2578-2580)AAC>AAT p.N860N NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 860 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGCTATATAACGATCGTTCAG 0.368 121 146 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20854340 20854340 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:20854340G>T uc001rej.3 + 4 573 c.218G>T c.(217-219)AGG>ATG p.R73M SLCO1C1_uc010sii.1_Missense_Mutation_p.R73M|SLCO1C1_uc010sij.1_Missense_Mutation_p.R73M|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.R73M|SLCO1C1_uc010sik.1_Intron NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 73 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) ATAGAGAGAAGGTTTGATATC 0.398 136 150 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20890111 20890111 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:20890111A>C uc001rej.3 + 12 1808 c.1453A>C c.(1453-1455)ACA>CCA p.T485P SLCO1C1_uc010sii.1_Missense_Mutation_p.T485P|SLCO1C1_uc010sij.1_Missense_Mutation_p.T436P|SLCO1C1_uc009zip.2_Missense_Mutation_p.T319P|SLCO1C1_uc001rei.2_Missense_Mutation_p.T485P|SLCO1C1_uc010sik.1_Missense_Mutation_p.T367P NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 485 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) ATGTTCAGAGACAAAATGGGA 0.363 115 54 --- --- --- --- PASS ETNK1 55500 broad.mit.edu 37 12 22826547 22826547 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:22826547G>A uc001rft.2 + 6 1187 c.1165G>A c.(1165-1167)GAA>AAA p.E389K ETNK1_uc009ziz.2_Missense_Mutation_p.E389K NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 389 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 TGAAGTTACTGAAAAGGAGGT 0.368 32 220 --- --- --- --- PASS CAPRIN2 65981 broad.mit.edu 37 12 30884403 30884403 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:30884403C>A uc001rji.1 - 6 1685 c.934G>T c.(934-936)GGC>TGC p.G312C CAPRIN2_uc001rjf.1_Missense_Mutation_p.G109C|CAPRIN2_uc001rjg.1_Translation_Start_Site|CAPRIN2_uc001rjh.1_Missense_Mutation_p.G312C|CAPRIN2_uc001rjj.1_Translation_Start_Site|CAPRIN2_uc001rjk.3_Missense_Mutation_p.G312C|CAPRIN2_uc001rjl.3_Missense_Mutation_p.G312C|CAPRIN2_uc001rjm.1_Translation_Start_Site|CAPRIN2_uc001rjn.1_Translation_Start_Site NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 312 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCAAAATAGCCTGAGTTCAGC 0.348 46 162 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45173518 45173518 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:45173518C>A uc001rog.2 - 5 1129 c.534G>T c.(532-534)AAG>AAT p.K178N NELL2_uc001rof.3_Missense_Mutation_p.K177N|NELL2_uc001roh.2_Missense_Mutation_p.K178N|NELL2_uc009zkd.2_Missense_Mutation_p.K177N|NELL2_uc010skz.1_Missense_Mutation_p.K228N|NELL2_uc010sla.1_Missense_Mutation_p.K201N|NELL2_uc001roi.1_Missense_Mutation_p.K178N|NELL2_uc010slb.1_Missense_Mutation_p.K177N|NELL2_uc001roj.2_Missense_Mutation_p.K178N NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 178 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CTGTGGAGGGCTTTTCTACTA 0.378 53 104 --- --- --- --- PASS PLEKHA9 51054 broad.mit.edu 37 12 45567332 45567332 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:45567332C>T uc001rom.1 - 3 1354 c.817G>A c.(817-819)GAA>AAA p.E273K PLEKHA9_uc009zke.2_Missense_Mutation_p.E273K NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) GCCTCCACTTCGTGCAGCACT 0.413 31 145 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46123697 46123697 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:46123697C>G uc001ros.1 + 1 78 c.78C>G c.(76-78)TTC>TTG p.F26L ARID2_uc001ror.2_Missense_Mutation_p.F26L|LOC400027_uc001roq.2_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 26 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGCGGCAGTTCCACCACAGCA 0.672 7 34 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46244950 46244950 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:46244950A>C uc001ros.1 + 15 3044 c.3044A>C c.(3043-3045)CAG>CCG p.Q1015P ARID2_uc001ror.2_Missense_Mutation_p.Q1015P|ARID2_uc009zkg.1_Missense_Mutation_p.Q471P|ARID2_uc009zkh.1_Missense_Mutation_p.Q642P|ARID2_uc001rou.1_Missense_Mutation_p.Q349P NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1015 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAGCAACAGCAGCAACATTCA 0.507 22 93 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48251014 48251014 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:48251014C>T uc001rqm.2 - 7 763 c.481G>A c.(481-483)GAT>AAT p.D161N VDR_uc001rql.2_Missense_Mutation_p.D211N|VDR_uc001rqn.2_Missense_Mutation_p.D161N|VDR_uc010slq.1_Missense_Mutation_p.D129N NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 161 Hinge. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCTCCACCATCATTCACACGA 0.552 8 56 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48251018 48251018 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:48251018C>G uc001rqm.2 - 7 759 c.477G>C c.(475-477)GTG>GTC p.V159V VDR_uc001rql.2_Silent_p.V209V|VDR_uc001rqn.2_Silent_p.V159V|VDR_uc010slq.1_Silent_p.V127V NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 159 Hinge. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CACCATCATTCACACGAACTG 0.552 8 53 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49439860 49439860 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:49439860C>G uc001rta.3 - 17 4681 c.4681G>C c.(4681-4683)GTA>CTA p.V1561L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1561 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ACAGGCTTTACCACGTAGGGC 0.592 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 16 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49441824 49441824 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:49441824C>A uc001rta.3 - 14 4160 c.4160G>T c.(4159-4161)GGC>GTC p.G1387V NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1387 PHD-type 3. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGCCCCCCGGCCAAAGCTGCC 0.547 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 18 71 --- --- --- --- PASS SCN8A 6334 broad.mit.edu 37 12 52115631 52115631 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:52115631A>C uc001ryw.2 + 12 2115 c.1937A>C c.(1936-1938)AAC>ACC p.N646T SCN8A_uc010snl.1_Missense_Mutation_p.N511T|SCN8A_uc001ryx.1_Missense_Mutation_p.N511T|SCN8A_uc001ryz.1_Missense_Mutation_p.N511T|SCN8A_uc001ryy.2_Missense_Mutation_p.N511T NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 646 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GTGGACTGCAACGGCGTGGTG 0.567 4 93 --- --- --- --- PASS ACVRL1 94 broad.mit.edu 37 12 52306283 52306283 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:52306283G>C uc001rzj.2 + 2 308 c.25G>C c.(25-27)GGC>CGC p.G9R ACVRL1_uc001rzk.2_Missense_Mutation_p.G9R|ACVRL1_uc010snm.1_Missense_Mutation_p.G23R NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 9 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCCCAGGAAAGGCCTTCTGAT 0.592 Hereditary_Hemorrhagic_Telangiectasia 9 69 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53823264 53823264 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:53823264G>A uc001scx.1 + 8 1073 c.995G>A c.(994-996)CGA>CAA p.R332Q AMHR2_uc009zmy.1_Missense_Mutation_p.R332Q NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 332 Cytoplasmic (Potential).|Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) ATTGCCCACCGAGATCTGAGC 0.448 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 4 117 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54905629 54905629 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:54905629A>G uc001sgc.3 + 8 857 c.778A>G c.(778-780)ATT>GTT p.I260V NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.I210V NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 260 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GGAGCGCTGGATTATCAGTAA 0.413 42 157 --- --- --- --- PASS OR6C4 341418 broad.mit.edu 37 12 55945428 55945428 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:55945428A>T uc010spp.1 + 1 418 c.418A>T c.(418-420)ATA>TTA p.I140L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGAGTCTGCATACAACTAGT 0.468 38 174 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57863408 57863408 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:57863408C>T uc001snx.2 + 11 1581 c.1503C>T c.(1501-1503)CTC>CTT p.L501L GLI1_uc009zpq.2_Silent_p.L373L NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 501 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) TTGAGAACCTCAGGCTGGACC 0.617 31 118 --- --- --- --- PASS CPSF6 11052 broad.mit.edu 37 12 69652507 69652507 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:69652507C>T uc001sut.3 + 6 942 c.832C>T c.(832-834)CTT>TTT p.L278F CPSF6_uc001suu.3_Missense_Mutation_p.L315F|CPSF6_uc010stk.1_5'UTR NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 278 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) ACCACCAGTTCTTTTTCCTGG 0.632 5 249 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70918263 70918263 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:70918263C>G uc001swb.3 - 31 5989 c.5959G>C c.(5959-5961)GAG>CAG p.E1987Q uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1897Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1897Q|PTPRB_uc001swc.3_Missense_Mutation_p.E2205Q|PTPRB_uc001swa.3_Missense_Mutation_p.E2117Q NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1987 Cytoplasmic (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTGTGATACTCTGGATTCACA 0.348 8 32 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70931979 70931979 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:70931979C>A uc001swb.3 - 26 5278 c.5248G>T c.(5248-5250)GAT>TAT p.D1750Y uc001svz.2_RNA|PTPRB_uc010sto.1_Missense_Mutation_p.D1660Y|PTPRB_uc010stp.1_Missense_Mutation_p.D1660Y|PTPRB_uc001swc.3_Missense_Mutation_p.D1968Y|PTPRB_uc001swa.3_Missense_Mutation_p.D1880Y NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1750 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGATCATCATCTACATTGGAG 0.428 24 127 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70953211 70953211 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:70953211T>C uc001swb.3 - 16 4002 c.3972A>G c.(3970-3972)CCA>CCG p.P1324P PTPRB_uc010sto.1_Silent_p.P1234P|PTPRB_uc010stp.1_Silent_p.P1234P|PTPRB_uc001swc.3_Silent_p.P1542P|PTPRB_uc001swa.3_Silent_p.P1454P|PTPRB_uc001swd.3_Silent_p.P1541P|PTPRB_uc009zrr.1_Silent_p.P1421P NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1324 Fibronectin type-III 15.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGATCTCCCTGGACGAAGAC 0.443 72 416 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70956660 70956660 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:70956660C>G uc001swb.3 - 14 3508 c.3478G>C c.(3478-3480)GAG>CAG p.E1160Q PTPRB_uc010sto.1_Missense_Mutation_p.E1070Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1070Q|PTPRB_uc001swc.3_Missense_Mutation_p.E1378Q|PTPRB_uc001swa.3_Missense_Mutation_p.E1290Q|PTPRB_uc001swd.3_Missense_Mutation_p.E1377Q|PTPRB_uc009zrr.1_Missense_Mutation_p.E1257Q NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1160 Fibronectin type-III 13.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTAGACAGCTCCCCACTGTGA 0.463 5 180 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72680712 72680712 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:72680712C>A uc001sxa.2 + 2 1061 c.1031C>A c.(1030-1032)ACT>AAT p.T344N NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 344 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TACAGAGAAACTACCACCAAG 0.393 26 61 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78388627 78388627 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:78388627C>A uc001syp.2 + 6 889 c.716C>A c.(715-717)GCA>GAA p.A239E NAV3_uc001syo.2_Missense_Mutation_p.A239E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 239 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGTGGAATTGCAACCAGTCAA 0.343 HNSCC(70;0.22) 25 63 --- --- --- --- PASS NUDT4 11163 broad.mit.edu 37 12 93793026 93793026 + Missense_Mutation SNP G C C rs77656411 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:93793026G>C uc001tcm.2 + 5 812 c.414G>C c.(412-414)GAG>GAC p.E138D NUDT4_uc010sup.1_Missense_Mutation_p.E138D|NUDT4_uc001tcn.2_Missense_Mutation_p.E86D|NUDT4_uc010suq.1_Missense_Mutation_p.E87D|NUDT4_uc001tco.2_Missense_Mutation_p.E86D NM_019094 NP_061967 Q9NZJ9 NUDT4_HUMAN nudix-type motif 4 isoform alpha 138 Nudix hydrolase. calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 TACATGCAGAGTATCTGGAAA 0.428 6 119 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100796216 100796216 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:100796216G>T uc010svi.1 + 7 1175 c.862G>T c.(862-864)GAG>TAG p.E288* SLC17A8_uc009ztx.2_Nonsense_Mutation_p.E288* NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 288 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 GACCTATATAGAGACAAGCAT 0.423 19 37 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101493391 101493391 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:101493391G>A uc010svm.1 + 22 2614 c.2042G>A c.(2041-2043)CGA>CAA p.R681Q ANO4_uc001thw.2_Missense_Mutation_p.R646Q|ANO4_uc001thx.2_Missense_Mutation_p.R681Q|ANO4_uc001thy.2_Missense_Mutation_p.R201Q NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 681 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 AGAAAAGTACGACAAGAACAT 0.353 HNSCC(74;0.22) 28 81 --- --- --- --- PASS TMEM116 89894 broad.mit.edu 37 12 112374620 112374620 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:112374620T>G uc001ttc.1 - 10 844 c.188A>C c.(187-189)CAC>CCC p.H63P TMEM116_uc001ttd.1_Missense_Mutation_p.H155P|TMEM116_uc001tte.1_Missense_Mutation_p.H120P|TMEM116_uc001ttf.1_Missense_Mutation_p.H63P|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Missense_Mutation_p.H155P NM_138341 NP_612350 Q8NCL8 TM116_HUMAN transmembrane protein 116 63 integral to membrane ovary(1) 1 TGGTGGTGAGTGCATCAAGAT 0.403 23 59 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112666057 112666057 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:112666057C>T uc009zwc.2 - 36 5442 c.5424G>A c.(5422-5424)TTG>TTA p.L1808L C12orf51_uc001ttr.1_5'UTR NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TATGAAGAGGCAATGCCTGAT 0.423 8 23 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112670832 112670832 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:112670832C>T uc009zwc.2 - 31 4725 c.4707G>A c.(4705-4707)GTG>GTA p.V1569V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GATCCATCTTCACAACTTTCT 0.443 13 11 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115117424 115117424 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:115117424G>C uc001tvt.1 - 4 1714 c.750C>G c.(748-750)CCC>CCG p.P250P TBX3_uc001tvu.1_Silent_p.P230P NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 250 T-box; second part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TGTGGAACCGGGGCTGGTATT 0.443 38 137 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117724063 117724063 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:117724063G>C uc001twm.1 - 6 1822 c.1136C>G c.(1135-1137)TCC>TGC p.S379C NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 379 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTGGGCTTTGGAGCCAAATCT 0.507 4 54 --- --- --- --- PASS KSR2 283455 broad.mit.edu 37 12 118298109 118298109 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:118298109T>C uc001two.2 - 2 276 c.221A>G c.(220-222)AAG>AGG p.K74R NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 103 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGGACCTCCTTGCGCACATC 0.622 13 30 --- --- --- --- PASS TCTN2 79867 broad.mit.edu 37 12 124156113 124156113 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:124156113G>C uc001ufp.2 + 2 270 c.142G>C c.(142-144)GAC>CAC p.D48H TCTN2_uc009zya.2_Missense_Mutation_p.D48H NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 48 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CCTGGTCGGAGACACCGAGGG 0.632 22 56 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124303765 124303765 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:124303765G>T uc001uft.3 + 22 3639 c.3614G>T c.(3613-3615)GGC>GTC p.G1205V NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1205 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TACAGTGAAGGCCCTGGTTCT 0.393 3 27 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124846713 124846713 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:124846713C>T uc010tba.1 - 22 3176 c.3059G>A c.(3058-3060)CGG>CAG p.R1020Q NCOR2_uc010tay.1_Missense_Mutation_p.R1019Q|NCOR2_uc010taz.1_Missense_Mutation_p.R1003Q|NCOR2_uc010tbb.1_Missense_Mutation_p.R1020Q|NCOR2_uc010tbc.1_Missense_Mutation_p.R1002Q|NCOR2_uc001ugj.1_Missense_Mutation_p.R1020Q NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1020 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTCTTGCCCCGGGGGCTGCT 0.721 14 9 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21396422 21396422 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:21396422G>A uc001unq.3 - 8 883 c.847C>T c.(847-849)CGA>TGA p.R283* NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 283 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 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) CTGATTTTTCGATGTACCTGT 0.398 24 50 --- --- --- --- PASS RNF17 56163 broad.mit.edu 37 13 25367445 25367445 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:25367445G>A uc001upr.2 + 10 1242 c.1201G>A c.(1201-1203)GAT>AAT p.D401N RNF17_uc010tdd.1_Missense_Mutation_p.D260N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.D401N|RNF17_uc001ups.2_Missense_Mutation_p.D340N|RNF17_uc001upq.1_Missense_Mutation_p.D401N NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 401 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATCTAGCCCTGATGTGATAAT 0.383 6 170 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26145831 26145831 + Splice_Site SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:26145831G>A uc001uqk.2 + 18 1804 c.1662_splice c.e18+1 p.A554_splice ATP8A2_uc010tdi.1_Splice_Site_p.A514_splice|ATP8A2_uc010tdj.1_Splice_Site|ATP8A2_uc010aaj.1_Splice_Site_p.A64_splice|ATP8A2_uc001uql.1_Missense_Mutation_p.V515M NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CATAGAAGCGGTGAGTAACAT 0.418 49 75 --- --- --- --- PASS CDK8 1024 broad.mit.edu 37 13 26974588 26974588 + Splice_Site SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:26974588A>C uc001uqr.1 + 10 960 c.934_splice c.e10-2 p.L312_splice CDK8_uc001uqs.1_Splice_Site_p.L312_splice|CDK8_uc001uqt.1_Splice_Site_p.L139_splice NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TTGTGATTTCAGCTTCAGAAG 0.393 44 114 --- --- --- --- PASS THSD1 55901 broad.mit.edu 37 13 52951735 52951735 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:52951735C>G uc001vgo.2 - 5 2915 c.2370G>C c.(2368-2370)CTG>CTC p.L790L THSD1_uc001vgp.2_Silent_p.L737L|THSD1_uc010tgz.1_Silent_p.L411L|THSD1_uc010aea.2_Silent_p.L251L NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 790 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GAGAAGGGCTCAGAGAACTGA 0.522 7 125 --- --- --- --- PASS SUGT1 10910 broad.mit.edu 37 13 53254242 53254242 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:53254242C>G uc001vhc.2 + 13 1173 c.948C>G c.(946-948)ATC>ATG p.I316M SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.I284M|SUGT1_uc010thb.1_Missense_Mutation_p.I228M|SUGT1_uc001vhd.2_Missense_Mutation_p.I173M NM_001130912 NP_001124384 Q9Y2Z0 SUGT1_HUMAN suppressor of G2 allele of SKP1 isoform a 316 SGS. mitosis kinetochore|ubiquitin ligase complex binding 0 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) TTCAGCAGATCTATTCAGATG 0.313 33 105 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58207128 58207128 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:58207128C>T uc001vhq.1 + 1 1340 c.448C>T c.(448-450)CGC>TGC p.R150C PCDH17_uc010aec.1_Missense_Mutation_p.R150C NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 150 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCCGGGCACCCGCTTCCCCCT 0.622 10 20 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67799867 67799867 + Silent SNP C T T rs144564425 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:67799867C>T uc001vik.2 - 2 3398 c.2706G>A c.(2704-2706)GGG>GGA p.G902G PCDH9_uc001vil.2_Silent_p.G902G|PCDH9_uc010thl.1_Silent_p.G902G|PCDH9_uc001vin.3_Silent_p.G902G NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 902 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGCTTATTGTCCCATTGATAG 0.463 50 138 --- --- --- --- PASS PIBF1 10464 broad.mit.edu 37 13 73428246 73428246 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:73428246G>C uc001vjc.2 + 10 1580 c.1275G>C c.(1273-1275)GTG>GTC p.V425V PIBF1_uc001vja.1_Silent_p.V425V|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Silent_p.V425V|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 425 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AACGAGCAGTGATGGCTGAAA 0.343 16 63 --- --- --- --- PASS KLF12 11278 broad.mit.edu 37 13 74289590 74289590 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:74289590C>G uc001vjf.2 - 7 1164 c.942G>C c.(940-942)CGG>CGC p.R314R KLF12_uc010aeq.2_Silent_p.R314R NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 314 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) TGTGGATACGCCGTTTTCTGG 0.468 61 36 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76415914 76415914 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:76415914G>T uc001vjv.2 + 21 3887 c.3127G>T c.(3127-3129)GAA>TAA p.E1043* LMO7_uc010thv.1_Nonsense_Mutation_p.E994*|LMO7_uc001vjt.1_Nonsense_Mutation_p.E942*|LMO7_uc010thw.1_Nonsense_Mutation_p.E920*|LMO7_uc001vjw.1_Nonsense_Mutation_p.E949* NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1328 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GCCACAAGAGGAAGTTGTTCA 0.512 30 60 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77641898 77641898 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:77641898G>A uc001vkf.2 - 72 12250 c.12159C>T c.(12157-12159)ATC>ATT p.I4053I MYCBP2_uc010aev.2_Silent_p.I3457I|MYCBP2_uc001vke.2_Silent_p.I670I NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4053 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGAGTGAATGATATCACTGA 0.448 7 224 --- --- --- --- PASS SCEL 8796 broad.mit.edu 37 13 78137971 78137971 + Missense_Mutation SNP T C C rs78419173 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:78137971T>C uc001vki.2 + 5 397 c.227T>C c.(226-228)GTA>GCA p.V76A SCEL_uc001vkj.2_Missense_Mutation_p.V76A|SCEL_uc010thx.1_Missense_Mutation_p.V76A NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 76 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TACAGGAAAGTAAATGAGAGA 0.308 68 40 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84454902 84454902 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:84454902C>A uc001vlk.2 - 1 1627 c.741G>T c.(739-741)CTG>CTT p.L247L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 247 Extracellular (Potential).|LRRCT 1. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTTACCCTGCAGTCTGGTGG 0.552 15 69 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88330197 88330197 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:88330197G>T uc001vln.2 + 2 2773 c.2554G>T c.(2554-2556)GAC>TAC p.D852Y SLITRK5_uc010tic.1_Missense_Mutation_p.D611Y NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 852 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCAGGACGCCGACCGCTTTTA 0.647 10 9 --- --- --- --- PASS ITGBL1 9358 broad.mit.edu 37 13 102231757 102231757 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr13:102231757G>T uc001vpb.2 + 5 925 c.706G>T c.(706-708)GGC>TGC p.G236C ITGBL1_uc010agb.2_Missense_Mutation_p.G187C|ITGBL1_uc001vpc.3_Missense_Mutation_p.G95C NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 236 V.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTCTCCAGATGGCAAAATCTG 0.423 27 33 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389723 20389723 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:20389723A>T uc010tkw.1 + 1 958 c.958A>T c.(958-960)ACT>TCT p.T320S NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 320 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTAGTGAGAACTTCCTTTCA 0.358 22 126 --- --- --- --- PASS RNASE13 440163 broad.mit.edu 37 14 21502089 21502089 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:21502089G>C uc001vzj.2 - 2 497 c.359C>G c.(358-360)CCC>CGC p.P120R NDRG2_uc010tll.1_Intron NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 precursor 120 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) GCAGCTAGTGGGTGGCTGTTG 0.498 56 137 --- --- --- --- PASS SUPT16H 11198 broad.mit.edu 37 14 21831420 21831420 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:21831420C>A uc001wao.2 - 12 1706 c.1367G>T c.(1366-1368)CGG>CTG p.R456L NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 456 Potential. DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TAATGCTGCCCGAGAACCTCT 0.254 8 21 --- --- --- --- PASS NFATC4 4776 broad.mit.edu 37 14 24838738 24838738 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:24838738G>A uc001wpc.2 + 2 455 c.134G>A c.(133-135)CGT>CAT p.R45H NFATC4_uc010tok.1_Missense_Mutation_p.R108H|NFATC4_uc010tol.1_Missense_Mutation_p.R108H|NFATC4_uc010alr.2_Missense_Mutation_p.R108H|NFATC4_uc010als.2_Missense_Mutation_p.R58H|NFATC4_uc010tom.1_Missense_Mutation_p.R58H|NFATC4_uc010ton.1_Missense_Mutation_p.R58H|NFATC4_uc010too.1_Missense_Mutation_p.R58H|NFATC4_uc010alt.2_Missense_Mutation_p.R77H|NFATC4_uc010top.1_Missense_Mutation_p.R77H|NFATC4_uc010toq.1_Missense_Mutation_p.R77H|NFATC4_uc010alu.2_Missense_Mutation_p.R45H|NFATC4_uc010tor.1_Missense_Mutation_p.R45H|NFATC4_uc010tos.1_5'UTR|NFATC4_uc010tot.1_Missense_Mutation_p.R33H|NFATC4_uc010tou.1_5'UTR|NFATC4_uc010tov.1_Missense_Mutation_p.R33H|NFATC4_uc010tow.1_5'UTR|NFATC4_uc010alv.2_Missense_Mutation_p.R33H|NFATC4_uc010tox.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 45 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) CCATGCTGCCGTCTGGCCTTG 0.622 88 242 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33292897 33292897 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:33292897C>T uc001wrq.2 + 13 6048 c.5878C>T c.(5878-5880)CTT>TTT p.L1960F NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1960 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGTTAGACATCTTCCAAAGAA 0.388 8 117 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360792 42360792 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:42360792G>T uc001wvm.2 + 4 2923 c.1725G>T c.(1723-1725)GGG>GGT p.G575G LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 575 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAACTAACGGGGCTCAAATAC 0.453 HNSCC(30;0.082) 21 46 --- --- --- --- PASS SAMD4A 23034 broad.mit.edu 37 14 55168860 55168860 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:55168860G>A uc001xbb.2 + 2 275 c.274G>A c.(274-276)GGA>AGA p.G92R SAMD4A_uc001xba.2_Missense_Mutation_p.G92R|SAMD4A_uc001xbc.2_Missense_Mutation_p.G92R|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_5'UTR NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 93 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 GCTGAAGCCAGGAAACCTCGA 0.448 25 50 --- --- --- --- PASS SLC35F4 341880 broad.mit.edu 37 14 58056099 58056099 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:58056099G>A uc001xdb.1 - 3 530 c.530C>T c.(529-531)TCT>TTT p.S177F SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.S18F NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TCCAACCCAAGATGATGATAC 0.408 5 35 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64467388 64467388 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:64467388G>T uc001xgm.2 + 28 3819 c.3589G>T c.(3589-3591)GAC>TAC p.D1197Y SYNE2_uc001xgl.2_Missense_Mutation_p.D1197Y NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1197 Cytoplasmic (Potential).|Potential. 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 ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAAGGAAAGAGACACACTAAA 0.308 41 96 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64519522 64519522 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:64519522G>A uc001xgm.2 + 48 9121 c.8891G>A c.(8890-8892)CGC>CAC p.R2964H SYNE2_uc001xgl.2_Missense_Mutation_p.R2964H NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2964 Potential.|Cytoplasmic (Potential). 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 ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTATACAGCGCAATGAACTA 0.358 16 44 --- --- --- --- PASS HEATR4 399671 broad.mit.edu 37 14 73987628 73987628 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:73987628G>T uc010tub.1 - 4 1319 c.997C>A c.(997-999)CGC>AGC p.R333S HEATR4_uc010tua.1_Missense_Mutation_p.R286S NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) GTCACCTGGCGAAAGTAGCTC 0.522 46 81 --- --- --- --- PASS SPATA7 55812 broad.mit.edu 37 14 88895791 88895791 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:88895791C>T uc001xwq.2 + 8 1163 c.1012C>T c.(1012-1014)CAG>TAG p.Q338* SPATA7_uc001xwr.2_Nonsense_Mutation_p.Q306*|SPATA7_uc001xws.2_Nonsense_Mutation_p.Q274*|SPATA7_uc001xwt.2_Nonsense_Mutation_p.Q232*|SPATA7_uc001xwu.2_5'UTR NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 338 response to stimulus|visual perception ovary(1) 1 TGATGCTCTTCAGCATTCCTC 0.373 4 82 --- --- --- --- PASS ZC3H14 79882 broad.mit.edu 37 14 89039028 89039028 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:89039028G>A uc001xww.2 + 6 763 c.538G>A c.(538-540)GAT>AAT p.D180N ZC3H14_uc010twd.1_Missense_Mutation_p.D180N|ZC3H14_uc010twe.1_Missense_Mutation_p.D180N|ZC3H14_uc001xwx.2_Missense_Mutation_p.D180N|ZC3H14_uc010twf.1_Missense_Mutation_p.D25N|ZC3H14_uc001xwy.2_Missense_Mutation_p.D146N|ZC3H14_uc010twg.1_Missense_Mutation_p.D25N NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 180 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 AGAACCAGATGATCTCATTGA 0.438 63 118 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93118174 93118174 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:93118174C>T uc001yap.2 + 6 932 c.780C>T c.(778-780)CGC>CGT p.R260R RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.R185R|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 260 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GCCCTGCACGCCCTTTGCCGC 0.468 13 131 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93142918 93142918 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:93142918G>A uc001yap.2 + 8 2586 c.2434G>A c.(2434-2436)GAG>AAG p.E812K RIN3_uc010auk.2_Missense_Mutation_p.E474K|RIN3_uc001yaq.2_Missense_Mutation_p.E737K|RIN3_uc001yas.1_Missense_Mutation_p.E474K NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 812 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GTACATGATGGAGCTCATGGA 0.622 14 62 --- --- --- --- PASS PRIMA1 145270 broad.mit.edu 37 14 94245620 94245620 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:94245620A>G uc001ybw.1 - 3 173 c.131T>C c.(130-132)GTG>GCG p.V44A PRIMA1_uc001ybx.1_RNA NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 precursor 44 Extracellular (Potential). neurotransmitter catabolic process cell junction|integral to membrane|synapse large_intestine(1)|skin(1) 2 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GCTGTCAGTCACTTTGGAGCA 0.363 12 28 --- --- --- --- PASS TCL1A 8115 broad.mit.edu 37 14 96178694 96178694 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:96178694C>G uc001yfc.3 - 2 290 c.160G>C c.(160-162)GAA>CAA p.E54Q TCL1A_uc001yfb.3_Missense_Mutation_p.E54Q NM_001098725 NP_001092195 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 54 multicellular organismal development endoplasmic reticulum|microsome lung(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) ACGACGTCTTCCCGACGCAAG 0.567 T TRA@ T-CLL 37 105 --- --- --- --- PASS DEGS2 123099 broad.mit.edu 37 14 100615443 100615443 + Silent SNP G A A rs145891510 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:100615443G>A uc001ygx.2 - 2 775 c.687C>T c.(685-687)TTC>TTT p.F229F NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN degenerative spermatocyte homolog 2, lipid 229 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity 0 Melanoma(154;0.212) GCTCGGCCACGAAGTGGCCCG 0.622 37 135 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106091400 106091400 + RNA SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:106091400T>C uc010tyt.1 - 3647 c.62108A>G uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron Parts of antibodies, mostly variable regions. 0 CTTGGCATTATGCACCTCCAC 0.612 83 253 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106235584 106235584 + RNA SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:106235584G>A uc010tyt.1 - 3617 c.58263C>T uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA Parts of antibodies, mostly variable regions. 0 TCATTTACCCGGAGACAGGGA 0.637 14 171 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106622046 106622046 + RNA SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:106622046C>G uc010tyt.1 - 1113 c.25600G>C Parts of antibodies, mostly variable regions. 0 ACACCCGATACCCACTCCAGC 0.552 169 278 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106962949 106962949 + RNA SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:106962949G>A uc010tyt.1 - 207 c.9735C>T Parts of antibodies, mostly variable regions. 0 AGTAATACATGGCTGTGTCCT 0.512 97 240 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106963124 106963124 + RNA SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:106963124A>G uc010tyt.1 - 207 c.9560T>C Parts of antibodies, mostly variable regions. 0 CACCCAGTGCAGGTAGCGGTA 0.557 27 145 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106967343 106967343 + RNA SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr14:106967343G>C uc010tyt.1 - 201 c.9098C>G Parts of antibodies, mostly variable regions. 0 GCTGCACCTGGGAGTGAGCAC 0.542 30 125 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811259 23811259 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:23811259G>A uc001ywh.3 + 1 806 c.330G>A c.(328-330)AAG>AAA p.K110K MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.K110K NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 110 C3H1-type 1. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGCAGTGCAAGGAGGGGGAGA 0.597 30 100 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23890784 23890784 + Silent SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:23890784T>A uc001ywj.3 - 1 392 c.297A>T c.(295-297)GCA>GCT p.A99A NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AATTTGCCGCTGCTACCGGGG 0.627 8 15 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25932875 25932875 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:25932875A>G uc010ayu.2 - 16 3372 c.3266T>C c.(3265-3267)GTG>GCG p.V1089A NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1089 Helical; (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GAAGTACAGCACCATGTTGGC 0.498 47 136 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25958918 25958918 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:25958918C>T uc010ayu.2 - 10 2353 c.2247G>A c.(2245-2247)ATG>ATA p.M749I NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 749 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCACCACTGACATCCTCTTGC 0.602 26 81 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28235790 28235790 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:28235790C>A uc001zbh.3 - 10 1158 c.1048G>T c.(1048-1050)GTG>TTG p.V350L OCA2_uc010ayv.2_Intron NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 350 Cytoplasmic (Potential). V -> M (in unclassified OCA). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GTTCTGTGCACGATCTGGAAA 0.547 Oculocutaneous_Albinism 59 85 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29393881 29393881 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:29393881G>C uc001zck.2 + 9 1625 c.1418G>C c.(1417-1419)CGC>CCC p.R473P APBA2_uc010azj.2_Missense_Mutation_p.R461P|APBA2_uc010uat.1_Missense_Mutation_p.R461P|APBA2_uc001zcl.2_Missense_Mutation_p.R461P|APBA2_uc001zcm.1_Missense_Mutation_p.R165P NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 473 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ATGGCCAGACGCCGCATGCCC 0.587 8 24 --- --- --- --- PASS ARHGAP11A 9824 broad.mit.edu 37 15 32926224 32926224 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:32926224G>T uc001zgy.1 + 10 2048 c.1326G>T c.(1324-1326)GGG>GGT p.G442G ARHGAP11A_uc010ubw.1_Silent_p.G253G|ARHGAP11A_uc001zgw.2_Silent_p.G442G|ARHGAP11A_uc001zgx.2_Silent_p.G414G|ARHGAP11A_uc010ubx.1_Silent_p.G253G NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 442 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TCAATCTAGGGAAAAATGGCA 0.353 9 23 --- --- --- --- PASS ATPBD4 89978 broad.mit.edu 37 15 35834710 35834710 + Splice_Site SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:35834710T>A uc001zja.2 - 2 86 c.24_splice c.e2-1 p.S8_splice ATPBD4_uc001ziz.2_5'UTR|ATPBD4_uc001zjb.2_Splice_Site_p.S8_splice NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN ATP binding domain 4 isoform 1 0 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) TTCCCACCACTAAACAATAAA 0.373 56 176 --- --- --- --- PASS C15orf52 388115 broad.mit.edu 37 15 40628788 40628788 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:40628788C>A uc001zlh.3 - 9 1022 c.1006G>T c.(1006-1008)GGC>TGC p.G336C C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.G126C NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 336 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CGGGCCCTGCCAGTCAGCCTC 0.642 49 143 --- --- --- --- PASS DISP2 85455 broad.mit.edu 37 15 40660227 40660227 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:40660227C>A uc001zlk.1 + 8 2003 c.1914C>A c.(1912-1914)CCC>CCA p.P638P NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 638 SSD. smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTGGCTGCCCGCCTCCGCCG 0.552 3 4 --- --- --- --- PASS RTF1 23168 broad.mit.edu 37 15 41770814 41770814 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:41770814C>A uc001zny.2 + 15 1821 c.1809C>A c.(1807-1809)ATC>ATA p.I603I NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 603 histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AGCCTACCATCGTTTCTAATG 0.398 5 208 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42695083 42695083 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:42695083T>G uc001zpn.1 + 13 1934 c.1628T>G c.(1627-1629)GTG>GGG p.V543G CAPN3_uc001zpk.1_Missense_Mutation_p.V316G|CAPN3_uc001zpl.1_Missense_Mutation_p.V456G|CAPN3_uc010udf.1_Missense_Mutation_p.V456G|CAPN3_uc010udg.1_Missense_Mutation_p.V408G|CAPN3_uc001zpo.1_Missense_Mutation_p.V543G|CAPN3_uc001zpp.1_Missense_Mutation_p.V495G|CAPN3_uc001zpq.1_Missense_Mutation_p.V31G|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 543 Domain III. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ATGCGGGAGGTGTCCCAGCGC 0.587 49 109 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43819299 43819299 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:43819299C>G uc001zrt.2 + 4 6095 c.5628C>G c.(5626-5628)TTC>TTG p.F1876L NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1876 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTGCACCCTTCTCTTGGGGCA 0.662 20 32 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48719794 48719794 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:48719794G>A uc001zwx.1 - 58 7502 c.7174C>T c.(7174-7176)CAT>TAT p.H2392Y FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2392 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTCGGCCATGGGGACAGAGT 0.478 47 89 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48788313 48788313 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:48788313A>G uc001zwx.1 - 20 2731 c.2403T>C c.(2401-2403)GAT>GAC p.D801D NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 801 EGF-like 12; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATGTTTTTAGATCAGGTTTGT 0.358 27 84 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49048734 49048734 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:49048734G>A uc001zwy.2 - 20 2745 c.2711C>T c.(2710-2712)TCT>TTT p.S904F CEP152_uc001zwz.2_Missense_Mutation_p.S904F|CEP152_uc001zxa.1_Missense_Mutation_p.S811F NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 904 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTTAGCTTCAGAAACAGCAAA 0.323 24 39 --- --- --- --- PASS GLDN 342035 broad.mit.edu 37 15 51696579 51696579 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:51696579T>C uc002aba.2 + 10 1453 c.1284T>C c.(1282-1284)GCT>GCC p.A428A GLDN_uc002abb.2_Silent_p.A304A NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 428 Extracellular (Potential).|Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TCAATCTAGCTGTAGATGAAA 0.413 100 161 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51792045 51792045 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:51792045C>T uc002abf.2 - 18 3601 c.3376G>A c.(3376-3378)GAT>AAT p.D1126N DMXL2_uc010ufy.1_Missense_Mutation_p.D1126N|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1126 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) ACCAAATCATCAAGATGAATT 0.373 27 50 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53908224 53908224 + Missense_Mutation SNP G T T rs28470860 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:53908224G>T uc002acj.2 - 15 2221 c.2179C>A c.(2179-2181)CTG>ATG p.L727M WDR72_uc010bfi.1_Missense_Mutation_p.L727M NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 727 lung(1)|skin(1) 2 all cancers(107;0.0511) CTTTTTCTCAGTGTCAGTGTC 0.473 26 71 --- --- --- --- PASS RNF111 54778 broad.mit.edu 37 15 59323142 59323142 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:59323142G>C uc002afv.2 + 2 400 c.121G>C c.(121-123)GAG>CAG p.E41Q RNF111_uc002afs.2_Missense_Mutation_p.E41Q|RNF111_uc002aft.2_Missense_Mutation_p.E41Q|RNF111_uc002afu.2_Missense_Mutation_p.E41Q|RNF111_uc002afw.2_Missense_Mutation_p.E41Q NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 41 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) TTTGCATCCAGAGCCCATTGG 0.428 17 41 --- --- --- --- PASS PLEKHO2 80301 broad.mit.edu 37 15 65153733 65153733 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:65153733G>A uc002anv.2 + 5 576 c.442G>A c.(442-444)GGC>AGC p.G148S PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.G98S NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 148 ovary(1)|lung(1) 2 GGTGCGAGGGGGCCAGCGACG 0.637 8 18 --- --- --- --- PASS DENND4A 10260 broad.mit.edu 37 15 66044854 66044854 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:66044854T>G uc002aph.2 - 4 802 c.424A>C c.(424-426)ATC>CTC p.I142L DENND4A_uc002api.2_Missense_Mutation_p.I142L|DENND4A_uc002apj.3_Missense_Mutation_p.I142L|DENND4A_uc010ujj.1_Missense_Mutation_p.I142L NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 142 MABP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CGGTAAGTGATATAAATTCTT 0.418 15 47 --- --- --- --- PASS LBXCOR1 390598 broad.mit.edu 37 15 68119422 68119422 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:68119422C>T uc002aqy.1 + 3 1124 c.1124C>T c.(1123-1125)CCA>CTA p.P375L NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 419 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 GCGGGCGAGCCAAAGGGCGGT 0.388 8 40 --- --- --- --- PASS FEM1B 10116 broad.mit.edu 37 15 68582929 68582929 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:68582929G>C uc002arg.2 + 2 1848 c.1233G>C c.(1231-1233)TTG>TTC p.L411F FEM1B_uc002arh.2_Missense_Mutation_p.L331F NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 411 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 AATGTGTTTTGAGATGCAGTG 0.363 4 162 --- --- --- --- PASS UBL7 84993 broad.mit.edu 37 15 74738472 74738472 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:74738472G>A uc002axw.1 - 11 1264 c.1102C>T c.(1102-1104)CAA>TAA p.Q368* UBL7_uc002axx.1_Nonsense_Mutation_p.Q408*|UBL7_uc010bjr.1_Nonsense_Mutation_p.Q259*|UBL7_uc002axy.1_Nonsense_Mutation_p.Q368*|UBL7_uc002axz.1_Nonsense_Mutation_p.Q368* NM_032907 NP_116296 Q96S82 UBL7_HUMAN ubiquitin-like 7 368 UBA. protein binding ovary(1) 1 AGGGCTGCTTGGATGTCCCCA 0.642 53 89 --- --- --- --- PASS MAN2C1 4123 broad.mit.edu 37 15 75650580 75650580 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:75650580T>A uc002baf.2 - 21 2526 c.2509A>T c.(2509-2511)ACC>TCC p.T837S MAN2C1_uc002bag.2_Missense_Mutation_p.T837S|MAN2C1_uc002bah.2_Missense_Mutation_p.T854S|MAN2C1_uc010bkk.2_Missense_Mutation_p.T738S NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 837 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 TTGTAGTGGGTAGGTCGCTGC 0.597 17 77 --- --- --- --- PASS SH2D7 646892 broad.mit.edu 37 15 78393758 78393758 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:78393758C>T uc010blb.1 + 5 1163 c.1163C>T c.(1162-1164)CCA>CTA p.P388L NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 388 0 GCCAGGGCCCCACATCCTGGG 0.612 11 28 --- --- --- --- PASS IREB2 3658 broad.mit.edu 37 15 78757687 78757687 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:78757687G>C uc002bdr.2 + 4 529 c.367G>C c.(367-369)GAT>CAT p.D123H IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.D123H NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 123 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTGTCCGACAGATCTTACAGT 0.408 16 82 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79341890 79341890 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:79341890G>A uc002beq.2 - 4 947 c.572C>T c.(571-573)ACC>ATC p.T191I RASGRF1_uc002bep.2_Missense_Mutation_p.T191I|RASGRF1_uc010blm.1_Missense_Mutation_p.T113I|RASGRF1_uc002ber.3_Missense_Mutation_p.T191I NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 191 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GACAGTCTGGGTGGACTGGAT 0.547 23 45 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 91037999 91037999 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:91037999G>T uc002bpl.1 + 36 4784 c.4683G>T c.(4681-4683)CTG>CTT p.L1561L IQGAP1_uc010uqg.1_Silent_p.L182L NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1561 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGATTTCTCTGAAATATACAG 0.333 60 111 --- --- --- --- PASS NTHL1 4913 broad.mit.edu 37 16 2090045 2090045 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:2090045C>G uc002col.1 - 6 838 c.819G>C c.(817-819)GAG>GAC p.E273D NTHL1_uc002com.1_Missense_Mutation_p.E274D NM_002528 NP_002519 P78549 NTHL1_HUMAN nth endonuclease III-like 1 273 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 CGTGCCACAGCTCCCTGTGGG 0.652 BER_DNA_glycosylases 4 136 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2326794 2326794 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:2326794G>A uc002cpy.1 - 33 5708 c.4996C>T c.(4996-4998)CTG>TTG p.L1666L ABCA3_uc010bsk.1_Silent_p.L1608L NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1666 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GCTTTCTCCAGAATACCGAAA 0.587 12 65 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2349432 2349432 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:2349432C>T uc002cpy.1 - 14 2425 c.1713G>A c.(1711-1713)GGG>GGA p.G571G ABCA3_uc010bsk.1_Silent_p.G513G|ABCA3_uc010bsl.1_Silent_p.G571G NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 571 ABC transporter 1.|ATP 1 (Potential). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) TGGTGGTCTTCCCGGCACCGT 0.647 29 139 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2815055 2815055 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:2815055G>A uc002crk.2 + 11 5075 c.4526G>A c.(4525-4527)TGT>TAT p.C1509Y SRRM2_uc002crj.1_Missense_Mutation_p.C1413Y|SRRM2_uc002crl.1_Missense_Mutation_p.C1509Y|SRRM2_uc010bsu.1_Missense_Mutation_p.C1413Y NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1509 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AACAACAAGTGTCTTACCCCC 0.537 51 196 --- --- --- --- PASS ZSCAN10 84891 broad.mit.edu 37 16 3140292 3140292 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:3140292G>A uc002ctv.1 - 5 1066 c.978C>T c.(976-978)TGC>TGT p.C326C ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.C244C|ZSCAN10_uc002ctx.1_Silent_p.C254C NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 326 C2H2-type 2. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AGCTCTTCCCGCAGCAAAGGC 0.697 19 70 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3641118 3641118 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:3641118C>G uc002cvp.2 - 12 3148 c.2521G>C c.(2521-2523)GAA>CAA p.E841Q NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 841 Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TCTTGATCTTCTTCGTGGTCC 0.478 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 9 179 --- --- --- --- PASS ZNF500 26048 broad.mit.edu 37 16 4810574 4810574 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:4810574C>A uc002cxp.1 - 5 926 c.679G>T c.(679-681)GAG>TAG p.E227* ZNF500_uc002cxo.1_Nonsense_Mutation_p.E19*|ZNF500_uc010uxt.1_Nonsense_Mutation_p.E227* NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 227 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GCCACGTCCTCCAAGTTCACG 0.612 21 99 --- --- --- --- PASS ZNF500 26048 broad.mit.edu 37 16 4810575 4810575 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:4810575C>A uc002cxp.1 - 5 925 c.678G>T c.(676-678)TTG>TTT p.L226F ZNF500_uc002cxo.1_Missense_Mutation_p.L18F|ZNF500_uc010uxt.1_Missense_Mutation_p.L226F NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 226 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CCACGTCCTCCAAGTTCACGG 0.617 20 98 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9934639 9934639 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:9934639C>A uc002czo.3 - 7 2064 c.1516G>T c.(1516-1518)GTC>TTC p.V506F GRIN2A_uc010uym.1_Missense_Mutation_p.V506F|GRIN2A_uc010uyn.1_Missense_Mutation_p.V349F|GRIN2A_uc002czr.3_Missense_Mutation_p.V506F NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 506 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACTGCCATGACTGCCCGTTGA 0.443 42 33 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 10032171 10032171 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:10032171G>T uc002czo.3 - 3 1200 c.652C>A c.(652-654)CAG>AAG p.Q218K GRIN2A_uc010uym.1_Missense_Mutation_p.Q218K|GRIN2A_uc010uyn.1_Missense_Mutation_p.Q61K|GRIN2A_uc002czr.3_Missense_Mutation_p.Q218K NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 218 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCTTCAGCTGGACTTGTGTC 0.517 20 103 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17211612 17211612 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:17211612C>G uc002dfa.2 - 11 2533 c.2448G>C c.(2446-2448)CTG>CTC p.L816L NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 816 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCCCAGGCCTCAGGGGCAAGT 0.552 15 50 --- --- --- --- PASS TMC7 79905 broad.mit.edu 37 16 19033093 19033093 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:19033093C>T uc002dfq.2 + 4 733 c.603C>T c.(601-603)TTC>TTT p.F201F TMC7_uc010vao.1_Silent_p.F201F|TMC7_uc002dfp.2_Silent_p.F201F|TMC7_uc010vap.1_Silent_p.F91F NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 201 Cytoplasmic (Potential). integral to membrane skin(2)|ovary(1) 3 ACAGCAGCTTCGTGCTCATTC 0.423 4 108 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20482472 20482472 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:20482472G>T uc010bwe.2 + 6 913 c.674G>T c.(673-675)AGT>ATT p.S225I ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Missense_Mutation_p.S146I|ACSM2A_uc002dhf.3_Missense_Mutation_p.S225I|ACSM2A_uc002dhg.3_Missense_Mutation_p.S225I|ACSM2A_uc010vay.1_Missense_Mutation_p.S146I NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 225 ATP. fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AGTGGGACCAGTGGTCTTCCC 0.512 45 72 --- --- --- --- PASS THUMPD1 55623 broad.mit.edu 37 16 20749105 20749105 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:20749105C>T uc002dho.2 - 3 718 c.580G>A c.(580-582)GGG>AGG p.G194R THUMPD1_uc010vaz.1_Missense_Mutation_p.G47R|THUMPD1_uc002dhp.2_Missense_Mutation_p.G194R NM_017736 NP_060206 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 194 THUMP. 0 TGAAATGTCCCTTTGTTTGGA 0.363 27 97 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20976398 20976398 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:20976398G>C uc010vbe.1 - 53 8808 c.8808C>G c.(8806-8808)CTC>CTG p.L2936L DNAH3_uc010vbd.1_Silent_p.L371L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2936 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCAGGGCCTGGAGCCGATCTA 0.522 100 312 --- --- --- --- PASS EEF2K 29904 broad.mit.edu 37 16 22269837 22269837 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:22269837G>A uc002dki.2 + 10 1537 c.1052G>A c.(1051-1053)AGA>AAA p.R351K EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 351 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) ACCATCTTGAGAGGAACAGAG 0.532 40 65 --- --- --- --- PASS LCMT1 51451 broad.mit.edu 37 16 25123230 25123230 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:25123230C>G uc002dnx.1 + 1 184 c.26C>G c.(25-27)TCT>TGT p.S9C LCMT1_uc002dny.1_Missense_Mutation_p.S9C|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR|LCMT1_uc002dnw.1_RNA NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 9 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AGGGAATCCTCTATCACCTCC 0.682 6 36 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27786317 27786317 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:27786317A>C uc002dow.2 + 24 4385 c.4361A>C c.(4360-4362)GAC>GCC p.D1454A NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1454 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 GTGGGCGGGGACGTCCGCACC 0.627 28 95 --- --- --- --- PASS ATP2A1 487 broad.mit.edu 37 16 28913589 28913589 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:28913589C>G uc002dro.1 + 17 2590 c.2406C>G c.(2404-2406)CTC>CTG p.L802L uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.L802L|ATP2A1_uc002drp.1_Silent_p.L677L NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 802 Interacts with phospholamban 2 (By similarity).|Helical; Name=6; (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCGACGGGCTCCCAGCCACAG 0.657 49 141 --- --- --- --- PASS ATP2A1 487 broad.mit.edu 37 16 28914425 28914425 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:28914425C>T uc002dro.1 + 20 3003 c.2819C>T c.(2818-2820)TCC>TTC p.S940F uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.S940F|ATP2A1_uc002drp.1_Missense_Mutation_p.S815F NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 940 Helical; Name=9; (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATCTGCCTCTCCATGTCCCTG 0.662 44 122 --- --- --- --- PASS SLC5A2 6524 broad.mit.edu 37 16 31500570 31500570 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:31500570T>G uc002ecf.3 + 12 1595 c.1576T>G c.(1576-1578)TAC>GAC p.Y526D SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 526 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 CGGCGTGCACTACCTCTACTT 0.642 4 77 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47675523 47675523 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:47675523C>G uc002eev.3 + 16 1580 c.1528C>G c.(1528-1530)CTG>GTG p.L510V PHKB_uc002eeu.3_Missense_Mutation_p.L503V NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 510 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TCAAGTTTTTCTGAACACATA 0.378 22 41 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50783821 50783821 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:50783821G>T uc002egp.1 + 4 627 c.212G>T c.(211-213)GGA>GTA p.G71V CYLD_uc002egn.1_Missense_Mutation_p.G71V|CYLD_uc002ego.2_Missense_Mutation_p.G71V|CYLD_uc010cbs.1_Missense_Mutation_p.G71V|CYLD_uc002egq.1_Missense_Mutation_p.G71V|CYLD_uc002egr.1_Missense_Mutation_p.G71V|CYLD_uc002egs.1_Missense_Mutation_p.G71V NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 71 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) AATCAGATTGGATTAAAAATT 0.373 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 81 58 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53358337 53358337 + Nonsense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:53358337A>T uc002ehb.2 + 38 8388 c.8224A>T c.(8224-8226)AAA>TAA p.K2742* CHD9_uc002egy.2_Nonsense_Mutation_p.K2726*|CHD9_uc002ehc.2_Nonsense_Mutation_p.K2727*|CHD9_uc002ehf.2_Nonsense_Mutation_p.K1840*|CHD9_uc010cbw.2_Nonsense_Mutation_p.K808* NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2742 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GACAGAAGACAAAAAGGGAAG 0.473 24 38 --- --- --- --- PASS ELMO3 79767 broad.mit.edu 37 16 67233628 67233628 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:67233628C>A uc002esa.2 + 3 363 c.320C>A c.(319-321)GCG>GAG p.A107E ELMO3_uc002esb.2_Missense_Mutation_p.A107E|ELMO3_uc002esc.2_5'UTR NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 54 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CTGCAGTTTGCGGATGGGCAC 0.682 16 10 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67316211 67316211 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:67316211G>A uc002eso.3 + 8 3747 c.1212G>A c.(1210-1212)CTG>CTA p.L404L PLEKHG4_uc002esp.3_Silent_p.L211L|PLEKHG4_uc002esq.3_Silent_p.L404L|PLEKHG4_uc010cef.2_Silent_p.L404L|PLEKHG4_uc002ess.3_Silent_p.L404L|PLEKHG4_uc010ceg.2_Silent_p.L323L NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 404 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TGACATGGCTGAAGCAAGAGG 0.612 13 23 --- --- --- --- PASS CHTF8 54921 broad.mit.edu 37 16 69154502 69154502 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:69154502G>A uc002ewn.1 - 4 293 c.192C>T c.(190-192)ATC>ATT p.I64I CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Silent_p.I45I|CHTF8_uc002ewp.1_Silent_p.I64I NM_001040146 NP_001035236 P0CG13 CTF8_HUMAN chromosome transmission fidelity factor 8 64 cell cycle|DNA replication nucleus DNA binding 0 TCTCCAGGTGGATGATTTTCC 0.537 18 62 --- --- --- --- PASS PDPR 55066 broad.mit.edu 37 16 70177543 70177543 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:70177543C>G uc002eyf.1 + 14 2693 c.1736C>G c.(1735-1737)GCA>GGA p.A579G CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.A479G|PDPR_uc002eyg.1_Missense_Mutation_p.A307G|PDPR_uc002eyh.2_5'Flank|PDPR_uc010vls.1_5'Flank NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 579 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) TGCAGCATAGCACGACTGAAC 0.552 3 37 --- --- --- --- PASS PHLPP2 23035 broad.mit.edu 37 16 71682897 71682897 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:71682897C>G uc002fax.2 - 18 3874 c.3868G>C c.(3868-3870)GAA>CAA p.E1290Q PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.E1223Q NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 1290 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 TCCTTCACTTCTTCTTCCAGG 0.557 3 100 --- --- --- --- PASS PSMD7 5713 broad.mit.edu 37 16 74339345 74339345 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:74339345T>A uc002fcq.2 + 7 821 c.689T>A c.(688-690)CTG>CAG p.L230Q PSMD7_uc010vmr.1_Missense_Mutation_p.L153Q NM_002811 NP_002802 P51665 PSD7_HUMAN proteasome 26S non-ATPase subunit 7 230 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 ATCTACCAGCTGCAGGACGTC 0.527 27 12 --- --- --- --- PASS WDR59 79726 broad.mit.edu 37 16 74949878 74949878 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:74949878G>A uc002fdh.1 - 13 1216 c.1114C>T c.(1114-1116)CCC>TCC p.P372S WDR59_uc002fdi.2_Missense_Mutation_p.P372S|WDR59_uc002fdj.2_Missense_Mutation_p.P372S|WDR59_uc002fdg.1_5'UTR NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 372 ovary(1)|breast(1) 2 TTTCTAGGGGGATCTTCTTTT 0.463 24 84 --- --- --- --- PASS MAF 4094 broad.mit.edu 37 16 79632723 79632723 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:79632723G>C uc002ffn.2 - 1 1900 c.1077C>G c.(1075-1077)AAC>AAG p.N359K MAF_uc002ffm.2_Missense_Mutation_p.N359K NM_001031804 NP_001026974 O75444 MAF_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 359 Represses ARE-mediated transcription. transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) TGCTCGAGCCGTTTTCTCGGA 0.592 T IGH@ MM 15 21 --- --- --- --- PASS TAF1C 9013 broad.mit.edu 37 16 84212912 84212912 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr16:84212912G>A uc002fhn.2 - 14 2473 c.2245C>T c.(2245-2247)CGG>TGG p.R749W TAF1C_uc002fhm.2_Missense_Mutation_p.R655W|TAF1C_uc010vnx.1_Missense_Mutation_p.R723W|TAF1C_uc010vny.1_Missense_Mutation_p.R340W|TAF1C_uc010vnz.1_Missense_Mutation_p.R417W|TAF1C_uc002fho.2_Missense_Mutation_p.R272W|TAF1C_uc010voa.1_Missense_Mutation_p.R417W|TAF1C_uc002fhp.1_Intron NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 749 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 CGCTTGGGCCGCCTGGTCTGT 0.687 11 11 --- --- --- --- PASS NXN 64359 broad.mit.edu 37 17 729316 729316 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:729316G>C uc002fsa.2 - 2 455 c.363C>G c.(361-363)CTC>CTG p.L121L NXN_uc002fsb.1_Silent_p.L8L|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Silent_p.L13L NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 121 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) TCCAAAGTTTGAGCTGTATGA 0.468 13 39 --- --- --- --- PASS SGSM2 9905 broad.mit.edu 37 17 2279103 2279103 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:2279103G>A uc002fun.3 + 17 2458 c.2283G>A c.(2281-2283)GAG>GAA p.E761E SGSM2_uc002fum.3_Silent_p.E806E|SGSM2_uc010vqw.1_Silent_p.E761E|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 761 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CCAGCCAGGAGAAGCCTCAGG 0.677 66 37 --- --- --- --- PASS NLRP1 22861 broad.mit.edu 37 17 5418228 5418228 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:5418228G>T uc002gci.2 - 17 4823 c.4268C>A c.(4267-4269)CCC>CAC p.P1423H NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Missense_Mutation_p.P1379H|NLRP1_uc002gcj.2_Missense_Mutation_p.P1393H|NLRP1_uc002gcl.2_Missense_Mutation_p.P1349H|NLRP1_uc002gch.3_Missense_Mutation_p.P1379H NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1423 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) CATCTGGCTGGGCCTCGTGTT 0.572 32 24 --- --- --- --- PASS ACADVL 37 broad.mit.edu 37 17 7124370 7124370 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:7124370A>T uc002gev.2 + 6 621 c.470A>T c.(469-471)AAC>ATC p.N157I DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.N167I|ACADVL_uc010vtq.1_Missense_Mutation_p.N203I|ACADVL_uc002gew.2_Missense_Mutation_p.N135I|ACADVL_uc002gex.2_Missense_Mutation_p.N81I NM_000018 NP_000009 P49748 ACADV_HUMAN acyl-Coenzyme A dehydrogenase, very long chain 157 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity ovary(3) 3 GGCCTTTGCAACACCCAGGTG 0.597 44 31 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:7577046C>A uc002gim.2 - 8 1086 c.892G>T c.(892-894)GAG>TAG p.E298* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 298 Interaction with HIPK1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGCAGCTCGTGGTGAGGC 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 47 45 --- --- --- --- PASS PFAS 5198 broad.mit.edu 37 17 8166571 8166571 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:8166571G>C uc002gkr.2 + 13 1696 c.1555G>C c.(1555-1557)GCT>CCT p.A519P PFAS_uc010vuv.1_Missense_Mutation_p.A95P|PFAS_uc010cnw.1_Missense_Mutation_p.A73P|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 519 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGATCAGGGCGCTGGTGGCAA 0.562 56 58 --- --- --- --- PASS PIK3R6 146850 broad.mit.edu 37 17 8753098 8753098 + Splice_Site SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:8753098C>T uc002glq.1 - 2 253 c.13_splice c.e2+1 p.D5_splice PIK3R6_uc002glr.1_Splice_Site|PIK3R6_uc002gls.1_Splice_Site NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 platelet activation cytosol 0 ACCACACTGACCTGAGCTCTC 0.597 12 7 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10355635 10355635 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:10355635C>A uc002gmn.2 - 27 3472 c.3361G>T c.(3361-3363)GAG>TAG p.E1121* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1121 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCCTCCAGCTCCTCAATGCGG 0.522 62 35 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10411242 10411242 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:10411242C>A uc002gmo.2 - 17 2023 c.1929G>T c.(1927-1929)AAG>AAT p.K643N uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 643 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AAGAACCCTTCTTCTTACCAC 0.378 50 35 --- --- --- --- PASS MPRIP 23164 broad.mit.edu 37 17 17046940 17046940 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:17046940G>C uc002gqu.1 + 9 1162 c.1106G>C c.(1105-1107)AGA>ACA p.R369T MPRIP_uc002gqv.1_Missense_Mutation_p.R369T|MPRIP_uc002gqw.1_Intron NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 369 Interaction with F-actin (By similarity). cytoplasm|cytoskeleton actin binding 0 CCACACCGAAGAGCCAAGTCA 0.667 10 45 --- --- --- --- PASS FBXW10 10517 broad.mit.edu 37 17 18647983 18647983 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:18647983G>C uc002guk.2 + 1 658 c.426G>C c.(424-426)CAG>CAC p.Q142H FBXW10_uc002guj.2_Missense_Mutation_p.Q142H|FBXW10_uc002gul.2_Missense_Mutation_p.Q142H|FBXW10_uc010cqh.1_Missense_Mutation_p.Q142H NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 142 ovary(1) 1 TACTGCTGCAGATGTGCAACC 0.453 57 87 --- --- --- --- PASS SARM1 23098 broad.mit.edu 37 17 26708607 26708607 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:26708607G>A uc010crl.1 + 5 923 c.856G>A c.(856-858)GAG>AAG p.E286K SARM1_uc010wah.1_3'UTR|SARM1_uc010waj.1_RNA NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 286 innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GGTGGAGCGCGAGGTGGAGCG 0.682 4 4 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27778620 27778620 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:27778620C>G uc002hdz.1 + 2 248 c.54C>G c.(52-54)CTC>CTG p.L18L TAOK1_uc010wbe.1_Silent_p.L18L|TAOK1_uc010wbf.1_Silent_p.L18L NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 18 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) TTGCAGAGCTCTTCTTCAAAG 0.443 36 90 --- --- --- --- PASS EVI2A 2123 broad.mit.edu 37 17 29645355 29645355 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:29645355C>T uc002hgm.2 - 2 892 c.677G>A c.(676-678)GGA>GAA p.G226E NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.G249E NM_014210 NP_055025 P22794 EVI2A_HUMAN ecotropic viral integration site 2A isoform 2 226 Cytoplasmic (Potential). integral to membrane transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTTTTCAGTTCCTTCTTCATC 0.378 18 155 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32956200 32956200 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:32956200C>T uc002hif.2 + 5 1373 c.1045C>T c.(1045-1047)CAA>TAA p.Q349* NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 349 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GCGGGATGTGCAAGCCATCCT 0.592 12 67 --- --- --- --- PASS PSMB3 5691 broad.mit.edu 37 17 36918668 36918668 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:36918668C>T uc002hqr.2 + 5 557 c.479C>T c.(478-480)CCG>CTG p.P160L NM_002795 NP_002786 P49720 PSB3_HUMAN proteasome beta 3 subunit 160 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity 0 TGGCAGGATCCGGATCACCTG 0.512 58 119 --- --- --- --- PASS KRT10 3858 broad.mit.edu 37 17 38974732 38974732 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:38974732T>C uc002hvi.2 - 8 1777 c.1751A>G c.(1750-1752)TAC>TGC p.Y584C KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_5'Flank NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 584 Tail. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) GTTTTGTTAGTATCTGTGTGA 0.333 38 30 --- --- --- --- PASS KRT12 3859 broad.mit.edu 37 17 39020084 39020084 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:39020084G>C uc002hvk.2 - 4 864 c.840C>G c.(838-840)GGC>GGG p.G280G NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 280 Rod.|Linker 12. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CGCTGACCTCGCCTGGGCCGC 0.498 45 30 --- --- --- --- PASS KRTAP9-4 85280 broad.mit.edu 37 17 39406130 39406130 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:39406130G>A uc002hwi.2 + 1 192 c.158G>A c.(157-159)CGC>CAC p.R53H KRTAP9-9_uc010wfq.1_Intron NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 53 6.|15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTTGCTGCCGCCCAACTTGC 0.642 6 132 --- --- --- --- PASS KRT13 3860 broad.mit.edu 37 17 39661684 39661684 + Missense_Mutation SNP C A A rs144144601 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:39661684C>A uc002hwu.1 - 1 182 c.119G>T c.(118-120)GGA>GTA p.G40V KRT13_uc002hwv.1_Missense_Mutation_p.G40V|KRT13_uc002hww.2_Intron|KRT13_uc010wfr.1_Intron|KRT13_uc010cxo.2_Missense_Mutation_p.G40V|KRT13_uc002hwx.1_Missense_Mutation_p.G40V NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 40 Gly-rich.|Head. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) CCCAGCTGATCCCCCGGACAC 0.418 43 53 --- --- --- --- PASS MPP3 4356 broad.mit.edu 37 17 41895442 41895442 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:41895442C>T uc002iei.3 - 12 1084 c.918G>A c.(916-918)CCG>CCA p.P306P MPP3_uc002ieh.2_Silent_p.P331P|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.P306P|MPP3_uc010wik.1_Silent_p.P331P NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 306 signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TCTGGGGGCTCGGCAGGGTGC 0.652 5 17 --- --- --- --- PASS KPNB1 3837 broad.mit.edu 37 17 45730120 45730120 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:45730120A>G uc002ilt.1 + 3 496 c.160A>G c.(160-162)AGA>GGA p.R54G KPNB1_uc010wkw.1_5'UTR NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 54 Importin N-terminal. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCAGGTTGCCAGAGTTGCAGC 0.413 23 87 --- --- --- --- PASS HOXB8 3218 broad.mit.edu 37 17 46691796 46691796 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:46691796G>T uc002inw.2 - 1 506 c.271C>A c.(271-273)CTG>ATG p.L91M NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 91 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGGCGTTGCAGCGGGTCGTAG 0.692 39 61 --- --- --- --- PASS ZNF652 22834 broad.mit.edu 37 17 47394301 47394301 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:47394301G>T uc002iov.3 - 2 1251 c.787C>A c.(787-789)CAC>AAC p.H263N ZNF652_uc002iow.2_Missense_Mutation_p.H263N|ZNF652_uc002iou.3_Intron NM_001145365 NP_001138837 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 263 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) ACGTTCATGTGCTTCTCCAGG 0.483 4 130 --- --- --- --- PASS PDK2 5164 broad.mit.edu 37 17 48172882 48172882 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:48172882C>A uc002iqc.2 + 1 187 c.83C>A c.(82-84)CCG>CAG p.P28Q PDK2_uc002iqb.2_Intron NM_002611 NP_002602 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase 2 precursor 28 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(3) 3 AAGTTCTCCCCGTCCCCGCTG 0.701 Autosomal_Dominant_Polycystic_Kidney_Disease 8 16 --- --- --- --- PASS MYCBPAP 84073 broad.mit.edu 37 17 48594754 48594754 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:48594754G>T uc010wmr.1 + 3 596 c.434G>T c.(433-435)TGC>TTC p.C145F MYCBPAP_uc002iqx.2_Missense_Mutation_p.C145F|MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 108 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGGAAGGTCTGCCACCTTGTA 0.493 39 125 --- --- --- --- PASS HLF 3131 broad.mit.edu 37 17 53345449 53345449 + Splice_Site SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:53345449T>A uc002iug.1 + 2 976 c.451_splice c.e2+2 p.G151_splice HLF_uc010dce.1_Splice_Site_p.G66_splice|HLF_uc002iuh.2_Splice_Site_p.G66_splice|HLF_uc010wni.1_Splice_Site_p.Q99_splice NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 TCAGACCAGGTAAGTGCCCTG 0.557 T TCF3 ALL 19 86 --- --- --- --- PASS HSF5 124535 broad.mit.edu 37 17 56565108 56565108 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:56565108C>G uc002iwi.1 - 1 652 c.528G>C c.(526-528)GCG>GCC p.A176A NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 176 By similarity. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) gccggggccccgcgggcggcg 0.632 4 9 --- --- --- --- PASS MTMR4 9110 broad.mit.edu 37 17 56581118 56581118 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:56581118G>T uc002iwj.2 - 15 1908 c.1798C>A c.(1798-1800)CGC>AGC p.R600S NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 600 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCAGAGAGCGGCCAGAGAAC 0.463 40 143 --- --- --- --- PASS TUBD1 51174 broad.mit.edu 37 17 57937725 57937725 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:57937725G>A uc002ixw.1 - 9 1598 c.1320C>T c.(1318-1320)TTC>TTT p.F440F TUBD1_uc010ddf.1_Silent_p.F338F|TUBD1_uc010ddg.1_Silent_p.F405F|TUBD1_uc010ddh.1_Silent_p.F266F|TUBD1_uc010wok.1_Silent_p.F383F|TUBD1_uc002ixx.1_Silent_p.F385F|TUBD1_uc010wol.1_Silent_p.F224F|TUBD1_uc010ddi.1_Silent_p.F186F NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 440 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CTAATGACGTGAAACTGTCTA 0.318 11 87 --- --- --- --- PASS EFCAB3 146779 broad.mit.edu 37 17 60464772 60464772 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:60464772T>A uc002izu.1 + 3 224 c.146T>A c.(145-147)ATG>AAG p.M49K EFCAB3_uc010wpc.1_Missense_Mutation_p.M101K NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 49 EF-hand 1. calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GCTTCACAAATGGCAGGTAAT 0.363 51 77 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60813357 60813357 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:60813357G>A uc010ddr.2 - 6 2110 c.1872C>T c.(1870-1872)TTC>TTT p.F624F MARCH10_uc002jag.3_Silent_p.F624F|MARCH10_uc010dds.2_Silent_p.F662F|MARCH10_uc002jah.2_Silent_p.F623F|uc002jaj.1_RNA|uc002jak.2_Intron NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 624 ligase activity|zinc ion binding 0 TTTCATCTGTGAAACCAGAGG 0.383 48 202 --- --- --- --- PASS RGS9 8787 broad.mit.edu 37 17 63193283 63193283 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:63193283C>A uc002jfe.2 + 13 1010 c.900C>A c.(898-900)GCC>GCA p.A300A RGS9_uc010dem.2_Silent_p.A297A|RGS9_uc002jfd.2_Silent_p.A297A|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.A71A NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 300 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 AACGATGGGCCTTCAACTTCA 0.488 14 28 --- --- --- --- PASS PRKCA 5578 broad.mit.edu 37 17 64299066 64299066 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:64299066G>A uc002jfp.1 + 1 141 c.97G>A c.(97-99)GAG>AAG p.E33K PRKCA_uc002jfo.1_5'UTR NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 33 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GAACGTGCACGAGGTGAAGGA 0.627 5 137 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65918992 65918992 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:65918992G>T uc002jgf.2 + 14 5655 c.5594G>T c.(5593-5595)AGT>ATT p.S1865I BPTF_uc002jge.2_Missense_Mutation_p.S1991I NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1991 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTTCGATCAAGTGCACTGCGG 0.433 41 69 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67181617 67181617 + Splice_Site SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:67181617C>T uc010dfa.1 - 21 3376 c.2497_splice c.e21+1 p.G833_splice ABCA10_uc010wqt.1_Splice_Site|ABCA10_uc010dfb.1_Splice_Site_p.G434_splice NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CCATTTCTCACCTGTATTATT 0.373 30 57 --- --- --- --- PASS ABCA5 23461 broad.mit.edu 37 17 67300870 67300870 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:67300870T>A uc002jif.2 - 6 2088 c.870A>T c.(868-870)TTA>TTT p.L290F ABCA5_uc002jie.2_5'Flank|ABCA5_uc002jig.2_Missense_Mutation_p.L290F|ABCA5_uc002jih.2_Missense_Mutation_p.L290F|ABCA5_uc010dfe.2_Missense_Mutation_p.L290F NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 290 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) TTTGAGGAAATAACAAAGAAG 0.323 41 60 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73492462 73492462 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:73492462C>T uc002jnz.3 + 24 3428 c.3153C>T c.(3151-3153)CCC>CCT p.P1051P KIAA0195_uc010wsa.1_Silent_p.P1061P|KIAA0195_uc010wsb.1_Silent_p.P691P|KIAA0195_uc002job.3_Silent_p.P59P NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 1051 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTTTCTCCCCTGCAGCTGT 0.612 41 59 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78268622 78268622 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:78268622G>A uc002jyf.2 + 9 1718 c.1575G>A c.(1573-1575)GGG>GGA p.G525G uc002jyg.1_Silent_p.G256G NM_020954 NP_066005 hypothetical protein LOC57714 TGGTGAAGGGGAAGCAGATTG 0.532 18 64 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78269537 78269537 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:78269537C>T uc002jyf.2 + 10 2079 c.1936C>T c.(1936-1938)CAC>TAC p.H646Y uc002jyg.1_Missense_Mutation_p.H377Y NM_020954 NP_066005 hypothetical protein LOC57714 CTGGTTGTGTCACCTCCTAAC 0.443 27 91 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78272202 78272202 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:78272202G>T uc002jyf.2 + 11 2237 c.2094G>T c.(2092-2094)CTG>CTT p.L698L uc002jyg.1_Silent_p.L429L NM_020954 NP_066005 hypothetical protein LOC57714 TGCCTGTCCTGCACTGCTGTA 0.622 21 55 --- --- --- --- PASS FSCN2 25794 broad.mit.edu 37 17 79503906 79503906 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:79503906G>T uc010wup.1 + 5 1420 c.1279G>T c.(1279-1281)GAC>TAC p.D427Y FSCN2_uc010wuo.1_Missense_Mutation_p.D451Y NM_012418 NP_036550 O14926 FSCN2_HUMAN fascin 2 isoform 1 427 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging 0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CCCAGGCCGCGACGGAGGGTT 0.766 12 14 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5438111 5438111 + Splice_Site SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:5438111T>A uc002kmt.1 - 6 616 c.530_splice c.e6-1 p.S177_splice EPB41L3_uc010wzh.1_Splice_Site_p.S177_splice|EPB41L3_uc002kmu.1_Splice_Site_p.S177_splice|EPB41L3_uc010dkq.1_Splice_Site_p.S68_splice|EPB41L3_uc010dks.1_Splice_Site_p.S199_splice|EPB41L3_uc002kmv.1_Splice_Site_p.S68_splice NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AAGCACCACCTGCAAGGATGG 0.403 28 28 --- --- --- --- PASS LRRC30 339291 broad.mit.edu 37 18 7231415 7231415 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:7231415G>C uc010wzk.1 + 1 279 c.279G>C c.(277-279)CTG>CTC p.L93L NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 93 LRR 1. ovary(1)|liver(1) 2 TGGGGAAACTGACCCGGATCG 0.572 11 74 --- --- --- --- PASS RAB12 201475 broad.mit.edu 37 18 8609899 8609899 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:8609899G>C uc002knp.2 + 1 457 c.174G>C c.(172-174)CTG>CTC p.L58L RAB12_uc002kno.1_Silent_p.L154L NM_001025300 NP_001020471 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 58 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 AGACCAGCCTGATGGAGCGCT 0.716 11 31 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9255357 9255357 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:9255357G>C uc002knv.2 + 9 2349 c.2092G>C c.(2092-2094)GAG>CAG p.E698Q ANKRD12_uc002knw.2_Missense_Mutation_p.E675Q|ANKRD12_uc002knx.2_Missense_Mutation_p.E675Q|ANKRD12_uc010dkx.1_Missense_Mutation_p.E405Q NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 698 nucleus ovary(2)|central_nervous_system(1) 3 attttggaaagagaatttttt 0.090 19 52 --- --- --- --- PASS TUBB6 84617 broad.mit.edu 37 18 12325637 12325637 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:12325637C>A uc002kqw.2 + 4 894 c.849C>A c.(847-849)GCC>GCA p.A283A TUBB6_uc002kqv.2_Silent_p.A211A|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.A246A|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 283 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) AGTACCGGGCCCTGACCGTGC 0.682 23 76 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 18 14183765 14183765 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:14183765G>T uc010xag.1 + 2 616 c.318G>T c.(316-318)CAG>CAT p.Q106H uc002ksv.1_5'Flank RecName: Full=Putative ankyrin repeat domain-containing protein 20A5; CTTTGATACAGGTATATTAGA 0.353 4 166 --- --- --- --- PASS RBBP8 5932 broad.mit.edu 37 18 20564878 20564878 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:20564878C>T uc002ktw.2 + 8 965 c.634C>T c.(634-636)CAT>TAT p.H212Y RBBP8_uc002kty.2_Missense_Mutation_p.H212Y|RBBP8_uc002ktz.2_Missense_Mutation_p.H212Y|RBBP8_uc002kua.2_Missense_Mutation_p.H212Y|RBBP8_uc002ktx.1_Missense_Mutation_p.H212Y NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 212 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GTCTTCAACTCATCCACAACA 0.308 Direct_reversal_of_damage|Homologous_recombination 16 85 --- --- --- --- PASS ZNF271 10778 broad.mit.edu 37 18 32886644 32886644 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:32886644C>G uc002kyq.3 + 3 1048 c.56C>G c.(55-57)TCC>TGC p.S19C ZNF271_uc002kyp.3_Missense_Mutation_p.S19C|ZNF271_uc002kyr.3_Missense_Mutation_p.S19C NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 ATCAGAGAATCCATACTGGGG 0.403 3 69 --- --- --- --- PASS CELF4 56853 broad.mit.edu 37 18 34854387 34854387 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:34854387C>G uc002lae.2 - 6 1084 c.688G>C c.(688-690)GCC>CCC p.A230P CELF4_uc010dnd.1_Missense_Mutation_p.A229P|CELF4_uc002lag.2_Missense_Mutation_p.A220P|CELF4_uc002laf.2_Missense_Mutation_p.A225P|CELF4_uc002lai.2_Missense_Mutation_p.A215P|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.R65P NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 230 Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 TCGGTGTCGGCGAACTTGACC 0.687 39 96 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40853715 40853715 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:40853715C>A uc002law.2 - 2 1048 c.679G>T c.(679-681)GGG>TGG p.G227W SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.G209W|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 227 Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TAGGGTATCCCATAGAATGTA 0.393 37 74 --- --- --- --- PASS SERPINB12 89777 broad.mit.edu 37 18 61228335 61228335 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:61228335G>C uc010xen.1 + 4 402 c.402G>C c.(400-402)GTG>GTC p.V134V SERPINB12_uc010xeo.1_Silent_p.V154V NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 134 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 TAGATGGTGTGATTCAATTTT 0.388 3 179 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 72999460 72999460 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:72999460G>T uc002lly.2 + 2 2526 c.1963G>T c.(1963-1965)GGG>TGG p.G655W NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 700 GK -> WE (in Ref. 4; AAC18047). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGCCGAGACTGGGAAGGCCAA 0.552 15 35 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76756976 76756976 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr18:76756976G>T uc002lmt.2 + 3 3557 c.3557G>T c.(3556-3558)GGG>GTG p.G1186V SALL3_uc010dra.2_Missense_Mutation_p.G721V NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCTCTCCTAGGGGGTGATGCC 0.602 44 31 --- --- --- --- PASS APC2 10297 broad.mit.edu 37 19 1468499 1468499 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:1468499C>G uc002lsr.1 + 15 5407 c.5199C>G c.(5197-5199)CCC>CCG p.P1733P APC2_uc002lss.1_Silent_p.P1315P|APC2_uc002lst.1_Silent_p.P1733P|APC2_uc002lsu.1_Silent_p.P1732P|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1733 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGCCCCCCAAGCACAGGA 0.667 8 25 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9056897 9056897 + Silent SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:9056897T>A uc002mkp.2 - 3 30753 c.30549A>T c.(30547-30549)CCA>CCT p.P10183P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10185 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGTATTTGTTGGTGTGACTG 0.458 35 38 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9088876 9088876 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:9088876G>A uc002mkp.2 - 1 3143 c.2939C>T c.(2938-2940)TCA>TTA p.S980L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 980 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTTGTTGCTGAAGGTAACCC 0.458 8 328 --- --- --- --- PASS PDE4A 5141 broad.mit.edu 37 19 10578192 10578192 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:10578192C>T uc002moj.2 + 15 2664 c.2556C>T c.(2554-2556)CAC>CAT p.H852H PDE4A_uc002mok.2_Silent_p.H826H|PDE4A_uc002mol.2_Silent_p.H791H|PDE4A_uc002mom.2_Silent_p.H613H|PDE4A_uc002mon.2_Silent_p.H307H|PDE4A_uc002moo.2_3'UTR NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 852 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding p.H613H(1) ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AACGAGAGCACCAGGCTGCCA 0.682 48 145 --- --- --- --- PASS DNM2 1785 broad.mit.edu 37 19 10908188 10908188 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:10908188C>T uc002mps.1 + 10 1493 c.1329C>T c.(1327-1329)GCC>GCT p.A443A DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Silent_p.A443A|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Silent_p.A176A NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 443 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AAAAGTGTGCCGAGAAGGTAA 0.478 25 126 --- --- --- --- PASS RAB3D 9545 broad.mit.edu 37 19 11447869 11447869 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:11447869C>T uc002mqy.2 - 2 445 c.207G>A c.(205-207)AAG>AAA p.K69K NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 69 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 GCTTGATCCTCTTGTCATGGC 0.532 15 329 --- --- --- --- PASS ZNF823 55552 broad.mit.edu 37 19 11833647 11833647 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:11833647G>C uc002msm.2 - 4 828 c.702C>G c.(700-702)TCC>TCG p.S234S ZNF823_uc010xmd.1_Silent_p.S52S|ZNF823_uc010dyi.1_Silent_p.S190S NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 234 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTCTTAGATAGGAACTGTAAA 0.398 HNSCC(68;0.2) 43 175 --- --- --- --- PASS ZNF440 126070 broad.mit.edu 37 19 11943034 11943034 + Missense_Mutation SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:11943034A>G uc002msp.1 + 4 1199 c.1043A>G c.(1042-1044)GAC>GGC p.D348G NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 348 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTGGAAAAGACTTTTGTTCT 0.373 21 58 --- --- --- --- PASS ZNF136 7695 broad.mit.edu 37 19 12298172 12298172 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:12298172G>A uc002mti.2 + 4 1079 c.979G>A c.(979-981)GAA>AAA p.E327K ZNF136_uc010xmh.1_Missense_Mutation_p.E261K NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 327 C2H2-type 7. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 TCGACTACATGAAAGAATTCA 0.428 4 138 --- --- --- --- PASS RAD23A 5886 broad.mit.edu 37 19 13060094 13060094 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:13060094G>A uc002mvw.1 + 7 794 c.685G>A c.(685-687)GAG>AAG p.E229K RAD23A_uc002mvx.1_Missense_Mutation_p.E228K|RAD23A_uc002mvz.1_Missense_Mutation_p.E228K|RAD23A_uc002mwa.1_Missense_Mutation_p.E229K|RAD23A_uc002mvy.1_Missense_Mutation_p.E63K|RAD23A_uc010xmw.1_Missense_Mutation_p.E64K NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 229 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 ACCAGCAGGAGAGAACCCCCT 0.632 NER 9 92 --- --- --- --- PASS TRMT1 55621 broad.mit.edu 37 19 13215822 13215822 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:13215822G>A uc002mwj.2 - 16 2157 c.1907C>T c.(1906-1908)GCC>GTC p.A636V LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.A240V|TRMT1_uc002mwk.2_Missense_Mutation_p.A607V|TRMT1_uc002mwl.3_Missense_Mutation_p.A636V NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 636 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) ACAGTCAGGGGCAGCATCAGC 0.622 OREG0025289 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 280 --- --- --- --- PASS CC2D1A 54862 broad.mit.edu 37 19 14029608 14029608 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:14029608C>A uc002mxo.2 + 9 1295 c.996C>A c.(994-996)CCC>CCA p.P332P CC2D1A_uc002mxn.2_Silent_p.P231P|CC2D1A_uc002mxp.2_Silent_p.P332P|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 332 Pro-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CTCCGACCCCCGCTACGGCGC 0.652 33 91 --- --- --- --- PASS WIZ 58525 broad.mit.edu 37 19 15535160 15535160 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:15535160C>A uc002nbc.2 - 7 2604 c.2581G>T c.(2581-2583)GAT>TAT p.D861Y WIZ_uc002nba.3_Missense_Mutation_p.D728Y|WIZ_uc002nbb.3_Missense_Mutation_p.D687Y NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1544 nucleus zinc ion binding 0 GCGGAGGCATCTGGAGGGCGG 0.637 37 88 --- --- --- --- PASS F2RL3 9002 broad.mit.edu 37 19 17001363 17001363 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:17001363C>G uc002nfa.2 + 2 1264 c.1089C>G c.(1087-1089)ACC>ACG p.T363T NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 363 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CGGGGGACACCGTGGCCTCCA 0.612 4 15 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17012067 17012067 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:17012067C>A uc002nfb.2 - 36 4899 c.4867G>T c.(4867-4869)GTG>TTG p.V1623L CPAMD8_uc002nfd.1_Missense_Mutation_p.V88L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1576 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AGCAGGGGCACCTCCAGGACA 0.602 4 21 --- --- --- --- PASS GLT25D1 79709 broad.mit.edu 37 19 17678315 17678315 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:17678315C>T uc002nhc.1 + 4 602 c.590C>T c.(589-591)GCG>GTG p.A197V GLT25D1_uc010eax.1_5'Flank NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 197 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 TCCCGGGCTGCGTACTCCAAC 0.592 8 28 --- --- --- --- PASS COMP 1311 broad.mit.edu 37 19 18897348 18897348 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:18897348C>T uc002nke.2 - 11 1284 c.1248G>A c.(1246-1248)CCG>CCA p.P416P COMP_uc002nkd.2_Silent_p.P383P|COMP_uc010xqj.1_Silent_p.P363P NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 416 TSP type-3 5. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 TCACCTGATCCGGGTTGCTCT 0.567 8 55 --- --- --- --- PASS ZNF93 81931 broad.mit.edu 37 19 20044144 20044144 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:20044144C>A uc002non.2 + 4 491 c.380C>A c.(379-381)ACA>AAA p.T127K NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 127 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 AAGGTGCACACAGGAGGTTAT 0.333 26 67 --- --- --- --- PASS ZNF431 170959 broad.mit.edu 37 19 21365741 21365741 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:21365741C>T uc002npp.2 + 5 782 c.635C>T c.(634-636)TCA>TTA p.S212L ZNF431_uc010ecq.2_Missense_Mutation_p.S121L|ZNF431_uc010ecr.2_Missense_Mutation_p.S213L NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 212 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 TGTGGCAAATCATTTTGCATG 0.289 17 76 --- --- --- --- PASS ZNF429 353088 broad.mit.edu 37 19 21720081 21720081 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:21720081C>T uc002nqd.1 + 4 1363 c.1226C>T c.(1225-1227)TCC>TTC p.S409F ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 409 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTTACCTGTTCCTCAACACTT 0.353 15 45 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22255656 22255656 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:22255656G>T uc010ecx.2 + 2 218 c.49G>T c.(49-51)GAG>TAG p.E17* ZNF257_uc010ecy.2_5'UTR NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) CTCTCTGGAGGAGTGGCATTG 0.443 62 97 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22271355 22271355 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:22271355G>T uc010ecx.2 + 4 972 c.803G>T c.(802-804)CGG>CTG p.R268L ZNF257_uc010ecy.2_Missense_Mutation_p.R236L NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 268 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GCCTTTAACCGGTCTTCACAC 0.388 7 45 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22271356 22271356 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:22271356G>T uc010ecx.2 + 4 973 c.804G>T c.(802-804)CGG>CGT p.R268R ZNF257_uc010ecy.2_Silent_p.R236R NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 268 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) CCTTTAACCGGTCTTCACACA 0.383 8 43 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363597 22363597 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:22363597G>T uc002nqs.1 - 3 1240 c.922C>A c.(922-924)CCC>ACC p.P308T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACTTGTAGGGTTTCTCTCCA 0.438 32 138 --- --- --- --- PASS UQCRFS1 7386 broad.mit.edu 37 19 29698958 29698958 + Missense_Mutation SNP C T T rs141991079 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:29698958C>T uc002nsd.2 - 2 433 c.322G>A c.(322-324)GAG>AAG p.E108K NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 108 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) TTCCTAGCCTCGCTGCTTTCT 0.468 17 229 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039710 31039710 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:31039710G>T uc002nsu.1 + 4 3322 c.3184G>T c.(3184-3186)GAC>TAC p.D1062Y ZNF536_uc010edd.1_Missense_Mutation_p.D1062Y NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1062 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ATCAAACAAAGACCTGGGCCT 0.537 7 104 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32968458 32968458 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:32968458G>C uc002ntg.2 + 17 1904 c.1728G>C c.(1726-1728)GCG>GCC p.A576A DPY19L3_uc002nth.1_Silent_p.A576A|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_5'UTR NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 576 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) CTGTGTTTGCGGGAAGCATGC 0.488 83 29 --- --- --- --- PASS ANKRD27 84079 broad.mit.edu 37 19 33119701 33119701 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:33119701G>A uc002ntn.1 - 14 1420 c.1264C>T c.(1264-1266)CAT>TAT p.H422Y NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 422 ANK 1. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity p.H422H(1) ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) TCTTTATCATGGTCCTCTTGG 0.453 28 161 --- --- --- --- PASS NUDT19 390916 broad.mit.edu 37 19 33183180 33183180 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:33183180C>A uc010edf.2 + 1 314 c.314C>A c.(313-315)CCC>CAC p.P105H NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 105 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) CCGTCGCTGCCCGACACCGAT 0.721 50 20 --- --- --- --- PASS ZNF599 148103 broad.mit.edu 37 19 35250052 35250052 + Nonsense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:35250052G>A uc010edn.1 - 4 2042 c.1654C>T c.(1654-1656)CAG>TAG p.Q552* ZNF599_uc010edm.1_Nonsense_Mutation_p.Q515* NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 552 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTCATGTGCTGAGTTAAAGCA 0.413 99 179 --- --- --- --- PASS FFAR3 2865 broad.mit.edu 37 19 35849879 35849879 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:35849879C>A uc002nzd.2 + 2 162 c.87C>A c.(85-87)CTC>CTA p.L29L FFAR3_uc010xsu.1_RNA NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 29 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGGTGGGGCTCCCCCTCAACC 0.647 27 122 --- --- --- --- PASS ARHGAP33 115703 broad.mit.edu 37 19 36273344 36273344 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:36273344G>T uc002obr.1 + 13 1240 c.1155G>T c.(1153-1155)GTG>GTT p.V385V ARHGAP33_uc002obs.1_Silent_p.V385V|ARHGAP33_uc002obt.1_Silent_p.V249V|ARHGAP33_uc010eel.2_5'UTR|ARHGAP33_uc002obv.1_5'Flank NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 385 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TCCACAGCGTGTCCTCCCTCT 0.582 85 26 --- --- --- --- PASS ARHGAP33 115703 broad.mit.edu 37 19 36279116 36279116 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:36279116C>T uc002obs.1 + 21 3251 c.3166C>T c.(3166-3168)CGT>TGT p.R1056C ARHGAP33_uc002obt.1_Missense_Mutation_p.R1053C|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R805C NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1217 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CTGGGGACCCCGTACCCCTCA 0.706 14 64 --- --- --- --- PASS ZNF345 25850 broad.mit.edu 37 19 37368786 37368786 + Missense_Mutation SNP A C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:37368786A>C uc002oex.2 + 3 1432 c.1054A>C c.(1054-1056)AGT>CGT p.S352R ZNF345_uc002oey.3_Missense_Mutation_p.S352R|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 352 C2H2-type 11. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGACCTTTAGTAGTGGTTC 0.403 22 103 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37643697 37643697 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:37643697C>A uc002ofo.1 - 5 1335 c.1104G>T c.(1102-1104)GAG>GAT p.E368D ZNF585A_uc002ofm.1_Missense_Mutation_p.E313D|ZNF585A_uc002ofn.1_Missense_Mutation_p.E313D NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 368 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAATAATCAACTCTGACCTGT 0.418 7 204 --- --- --- --- PASS RASGRP4 115727 broad.mit.edu 37 19 38912755 38912755 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:38912755C>T uc002oir.2 - 2 276 c.62G>A c.(61-63)CGA>CAA p.R21Q RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xub.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xuc.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xud.1_Missense_Mutation_p.R21Q|RASGRP4_uc010xue.1_Missense_Mutation_p.R21Q|RASGRP4_uc010egb.2_Missense_Mutation_p.R21Q NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 21 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGGCCGGCCTCGCCCTCCTAT 0.617 31 32 --- --- --- --- PASS SARS2 54938 broad.mit.edu 37 19 39412889 39412889 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:39412889C>A uc002oka.2 - 3 542 c.382G>T c.(382-384)GAA>TAA p.E128* SARS2_uc002ojz.2_5'UTR|SARS2_uc010xup.1_Nonsense_Mutation_p.E128*|SARS2_uc002okb.2_Nonsense_Mutation_p.E128*|SARS2_uc010xuq.1_Nonsense_Mutation_p.E128*|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Nonsense_Mutation_p.E128* NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 128 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TGCTGCACTTCACCACTGTCC 0.473 32 144 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40395822 40395822 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:40395822C>G uc002omp.3 - 15 7583 c.7575G>C c.(7573-7575)CAG>CAC p.Q2525H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2525 VWFD 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCCACTGTCTCTGCTCCAGCC 0.652 20 282 --- --- --- --- PASS CYP2F1 1572 broad.mit.edu 37 19 41626291 41626291 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:41626291G>C uc002opu.1 + 4 430 c.374G>C c.(373-375)AGA>ACA p.R125T CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R125T|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 125 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 AAGGTCCTGAGACAGTTCTCT 0.582 45 129 --- --- --- --- PASS ZNF223 7766 broad.mit.edu 37 19 44571244 44571244 + Silent SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:44571244C>G uc002oyf.1 + 5 1516 c.1263C>G c.(1261-1263)CTC>CTG p.L421L ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 421 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) ATAAGAGACTCCATTGCCGAA 0.418 32 141 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47492887 47492887 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:47492887C>T uc010ekv.2 + 4 3991 c.3991C>T c.(3991-3993)CCC>TCC p.P1331S NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1331 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) ACTGCCTGACCCCCTGGTCCC 0.542 35 170 --- --- --- --- PASS DHX34 9704 broad.mit.edu 37 19 47879256 47879256 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:47879256G>A uc010xyn.1 + 11 2724 c.2383G>A c.(2383-2385)GAG>AAG p.E795K DHX34_uc010xyo.1_5'Flank NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 795 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTGAGCCGCGAGCAGCTGGC 0.672 52 80 --- --- --- --- PASS SULT2A1 6822 broad.mit.edu 37 19 48387013 48387013 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:48387013G>A uc002phr.2 - 2 306 c.166C>T c.(166-168)CTG>TTG p.L56L NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 56 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GAGTGCATCAGGCAGAGAATC 0.398 23 23 --- --- --- --- PASS RASIP1 54922 broad.mit.edu 37 19 49242460 49242460 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:49242460C>A uc002pki.2 - 3 777 c.580G>T c.(580-582)GGC>TGC p.G194C NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 194 Ras-associating. signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CTGCTCTCGCCGGGGCCACCG 0.652 4 0 --- --- --- --- PASS SLC17A7 57030 broad.mit.edu 37 19 49939884 49939884 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:49939884G>C uc002pnp.2 - 2 409 c.237C>G c.(235-237)ATC>ATG p.I79M SLC17A7_uc002pnq.1_Missense_Mutation_p.I12M NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 79 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGTTGCAGCGGATGCCAAAGC 0.642 3 142 --- --- --- --- PASS NR1H2 7376 broad.mit.edu 37 19 50885782 50885782 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:50885782G>T uc010enw.2 + 11 1585 c.1309G>T c.(1309-1311)GAG>TAG p.E437* NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.E392*|NR1H2_uc002psa.3_Nonsense_Mutation_p.E339*|POLD1_uc002psb.3_5'Flank|POLD1_uc002psc.3_5'Flank|POLD1_uc010enx.2_5'Flank NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 436 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TGTGCACTCGGAGCAGGTCTT 0.667 39 8 --- --- --- --- PASS ASPDH 554235 broad.mit.edu 37 19 51015807 51015807 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:51015807C>T uc010enz.2 - 5 525 c.463G>A c.(463-465)GAT>AAT p.D155N JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_Missense_Mutation_p.D50N NM_001114598 NP_001108070 A6ND91 ASPD_HUMAN aspartate dehydrogenase isoform 1 155 NAD biosynthetic process|NADP catabolic process aspartate dehydrogenase activity|NADP binding 0 CGGAAGCCATCGGGGTGTGTG 0.672 4 12 --- --- --- --- PASS ZNF415 55786 broad.mit.edu 37 19 53611991 53611991 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:53611991C>A uc002qax.2 - 7 1800 c.1451G>T c.(1450-1452)GGA>GTA p.G484V ZNF415_uc002qat.2_Missense_Mutation_p.G448V|ZNF415_uc002qaw.2_Missense_Mutation_p.G436V|ZNF415_uc010yds.1_Missense_Mutation_p.G436V|ZNF415_uc010ydt.1_Missense_Mutation_p.G436V|ZNF415_uc002qau.2_Missense_Mutation_p.G423V|ZNF415_uc002qav.2_Missense_Mutation_p.G448V|ZNF415_uc002qba.2_Missense_Mutation_p.G206V|ZNF415_uc002qay.2_Missense_Mutation_p.G423V|ZNF415_uc002qaz.2_Missense_Mutation_p.G484V NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) AGGTTTCTCTCCAGTATGAAC 0.413 50 171 --- --- --- --- PASS SAPS1 22870 broad.mit.edu 37 19 55752352 55752352 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:55752352G>A uc002qjw.3 - 10 1499 c.1257C>T c.(1255-1257)AGC>AGT p.S419S SAPS1_uc002qjv.2_Silent_p.S481S NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 419 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TCTCAGGGCTGCTGTCAGGAG 0.577 4 8 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56243511 56243511 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:56243511C>T uc002qly.2 - 2 1714 c.1686G>A c.(1684-1686)ATG>ATA p.M562I NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 562 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CAAAGAAATTCATCACTTTGG 0.343 24 70 --- --- --- --- PASS ZFP28 140612 broad.mit.edu 37 19 57059206 57059206 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:57059206C>T uc002qnj.2 + 4 529 c.458C>T c.(457-459)TCC>TTC p.S153F ZFP28_uc002qni.2_Missense_Mutation_p.S153F|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 153 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GATGTGATCTCCTCGTTGGAA 0.512 61 90 --- --- --- --- PASS ZNF417 147687 broad.mit.edu 37 19 58420562 58420562 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr19:58420562G>A uc002qqq.2 - 3 1283 c.1084C>T c.(1084-1086)CGT>TGT p.R362C ZNF417_uc010yhm.1_Missense_Mutation_p.R319C|ZNF417_uc002qqr.2_Missense_Mutation_p.R361C NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 362 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) AACTTCTGACGAAAAGATTTC 0.428 36 175 --- --- --- --- PASS DEFB128 245939 broad.mit.edu 37 20 168638 168638 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:168638T>C uc002wcz.1 - 2 171 c.171A>G c.(169-171)GAA>GAG p.E57E NM_001037732 NP_001032821 Q7Z7B8 DB128_HUMAN beta-defensin 128 precursor 57 defense response to bacterium extracellular region breast(1) 1 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) TTTTCTCTTCTTCATCATTAG 0.383 73 288 --- --- --- --- PASS SIRPA 140885 broad.mit.edu 37 20 1918206 1918206 + Missense_Mutation SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:1918206A>T uc002wfq.2 + 9 1867 c.1507A>T c.(1507-1509)AGG>TGG p.R503W SIRPA_uc010zps.1_Missense_Mutation_p.R483W|SIRPA_uc002wfr.2_Missense_Mutation_p.R503W|SIRPA_uc002wfs.2_Missense_Mutation_p.R503W|SIRPA_uc002wft.2_Missense_Mutation_p.R507W NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 503 Cytoplasmic (Potential). R -> K (in Ref. 7; CAA71944). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CCAGGTCCCGAGGAAGTGAAT 0.627 92 53 --- --- --- --- PASS LRRN4 164312 broad.mit.edu 37 20 6031567 6031567 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:6031567G>A uc002wmo.2 - 3 942 c.718C>T c.(718-720)CGG>TGG p.R240W LRRN4_uc002wmp.2_Missense_Mutation_p.R240W NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 240 Extracellular (Potential).|LRR 8. integral to membrane skin(3) 3 GTCGTCAGCCGAGGCATCTTC 0.557 19 77 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13839949 13839949 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:13839949T>A uc010gcf.2 - 18 1859 c.1777A>T c.(1777-1779)AAT>TAT p.N593Y SEL1L2_uc002woq.3_Missense_Mutation_p.N454Y|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 593 Extracellular (Potential).|Sel1-like 11. integral to membrane binding ovary(2) 2 TAAGCCAGATTGAACATGGCT 0.413 44 49 --- --- --- --- PASS FLRT3 23767 broad.mit.edu 37 20 14307545 14307545 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:14307545C>T uc002wov.1 - 3 1075 c.608G>A c.(607-609)CGC>CAC p.R203H MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R203H NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 203 Extracellular (Potential).|LRR 7. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TAGAACCAGGCGTTTTAGACT 0.438 22 128 --- --- --- --- PASS DSTN 11034 broad.mit.edu 37 20 17581499 17581499 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:17581499C>T uc002wpr.2 + 2 375 c.120C>T c.(118-120)CTC>CTT p.L40L DSTN_uc002wpq.2_Silent_p.L23L|DSTN_uc010gck.2_Silent_p.L23L NM_006870 NP_006861 P60981 DEST_HUMAN destrin isoform a 40 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding large_intestine(1)|skin(1) 2 TTTTTTGTCTCAGTGCAGACA 0.378 25 120 --- --- --- --- PASS GZF1 64412 broad.mit.edu 37 20 23345385 23345385 + Nonsense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:23345385C>G uc010gdb.2 + 3 539 c.365C>G c.(364-366)TCA>TGA p.S122* GZF1_uc002wsy.2_Nonsense_Mutation_p.S122*|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Nonsense_Mutation_p.S122* NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 122 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TTGGATTTATCAGAAACTTGT 0.423 16 92 --- --- --- --- PASS BPIL1 80341 broad.mit.edu 37 20 31606524 31606524 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:31606524G>A uc002wyj.2 + 9 945 c.751G>A c.(751-753)GAG>AAG p.E251K NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 251 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 TGTGGGTACCGAGGGCTCCAT 0.637 9 182 --- --- --- --- PASS C20orf144 128864 broad.mit.edu 37 20 32251450 32251450 + Missense_Mutation SNP T G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:32251450T>G uc002wzs.1 + 2 271 c.239T>G c.(238-240)TTG>TGG p.L80W NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank NM_080825 NP_543015 Q9BQM9 CT144_HUMAN hypothetical protein LOC128864 80 0 GCACCCAGATTGCGCGGAGCG 0.731 3 29 --- --- --- --- PASS E2F1 1869 broad.mit.edu 37 20 32267691 32267691 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:32267691C>T uc002wzu.3 - 3 582 c.442G>A c.(442-444)GAC>AAC p.D148N NM_005225 NP_005216 Q01094 E2F1_HUMAN E2F transcription factor 1 148 Potential. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding 0 ACGACACCGTCAGCCGAGTGG 0.597 15 74 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36869797 36869797 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:36869797G>C uc002xhy.1 - 3 1008 c.736C>G c.(736-738)CCA>GCA p.P246A KIAA1755_uc002xhz.1_Missense_Mutation_p.P246A NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 246 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) ATGAGTCCTGGATACTTGCTC 0.592 8 112 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37536802 37536802 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:37536802G>T uc002xje.2 + 10 1349 c.1160G>T c.(1159-1161)AGG>ATG p.R387M PPP1R16B_uc010ggc.2_Missense_Mutation_p.R345M NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 387 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GGGGACATCAGGGAGACCAGG 0.597 3 66 --- --- --- --- PASS FAM83D 81610 broad.mit.edu 37 20 37555035 37555035 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:37555035C>A uc002xjg.2 + 1 81 c.40C>A c.(40-42)CGG>AGG p.R14R FAM83D_uc002xjf.2_Silent_p.R14R NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 Error:Variant_position_missing_in_Q9H4H8_after_alignment cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) GCCTATAAAGCGGGACTGCAC 0.652 41 26 --- --- --- --- PASS TOX2 84969 broad.mit.edu 37 20 42694504 42694504 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:42694504C>T uc002xlf.3 + 6 1076 c.1059C>T c.(1057-1059)GCC>GCT p.A353A TOX2_uc010ggo.2_Silent_p.A371A|TOX2_uc002xle.3_Silent_p.A329A|TOX2_uc010ggp.2_Silent_p.A329A|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.A249A NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCTCCCCTGCCAGCCTCGCCC 0.701 82 47 --- --- --- --- PASS PI3 5266 broad.mit.edu 37 20 43804653 43804653 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:43804653C>T uc002xng.2 + 2 255 c.231C>T c.(229-231)CCC>CCT p.P77P NM_002638 NP_002629 P19957 ELAF_HUMAN elafin preproprotein 77 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GCTCCTGCCCCATTATCTTGA 0.498 66 39 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44664529 44664529 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:44664529G>A uc010zxl.1 + 4 538 c.462G>A c.(460-462)GAG>GAA p.E154E SLC12A5_uc002xra.2_Silent_p.E131E|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.E131E NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 154 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCATCATGGAGTCCTTCTGCA 0.622 16 73 --- --- --- --- PASS ZBTB46 140685 broad.mit.edu 37 20 62421182 62421182 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:62421182C>T uc002ygv.1 - 2 1130 c.929G>A c.(928-930)CGA>CAA p.R310Q ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) ACTTGAGTCTCGGCTGCTGAA 0.662 5 224 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10934063 10934063 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:10934063T>A uc002yip.1 - 16 1282 c.914A>T c.(913-915)GAT>GTT p.D305V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D287V|TPTE_uc002yir.1_Missense_Mutation_p.D267V|TPTE_uc010gkv.1_Missense_Mutation_p.D167V NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 305 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTATGATCATCAATCATGAT 0.313 29 229 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10970025 10970025 + Missense_Mutation SNP C G G rs143765390 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:10970025C>G uc002yip.1 - 6 471 c.103G>C c.(103-105)GCA>CCA p.A35P TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.A35P|TPTE_uc002yir.1_Missense_Mutation_p.A35P|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 35 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCGCAGGTGCCTCCTCGGTT 0.398 9 119 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19725358 19725358 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:19725358T>C uc002ykw.2 - 10 1064 c.1033A>G c.(1033-1035)ATT>GTT p.I345V NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 345 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTACAATTAATTTTCTCATAA 0.299 37 87 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32582453 32582453 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:32582453G>C uc002yow.1 - 12 2768 c.2296C>G c.(2296-2298)CCA>GCA p.P766A TIAM1_uc011adk.1_Missense_Mutation_p.P766A|TIAM1_uc011adl.1_Missense_Mutation_p.P741A NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 766 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AACCAGGATGGAGTGAAATAC 0.517 16 50 --- --- --- --- PASS SIK1 150094 broad.mit.edu 37 21 44845334 44845334 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:44845334G>C uc002zdf.2 - 3 353 c.226C>G c.(226-228)CAG>GAG p.Q76E NM_173354 NP_775490 P57059 SIK1_HUMAN salt-inducible kinase 1 76 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1) 7 TTCATCAGCTGAACCTCACGA 0.348 15 30 --- --- --- --- PASS KRTAP10-5 386680 broad.mit.edu 37 21 45999774 45999774 + Missense_Mutation SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:45999774T>C uc002zfl.1 - 1 708 c.682A>G c.(682-684)ATA>GTA p.I228V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 228 22 X 5 AA repeats of C-C-X(3). keratin filament 0 GGCCTGCATATGGGGCGGCAG 0.682 4 125 --- --- --- --- PASS KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:45999841A>G uc002zfl.1 - 1 641 c.615T>C c.(613-615)TGT>TGC p.C205C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament 0 AAGCCGGCTGACAGCTAGACT 0.632 4 274 --- --- --- --- PASS ITGB2 3689 broad.mit.edu 37 21 46326964 46326964 + Missense_Mutation SNP C T T rs144806686 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:46326964C>T uc002zgd.2 - 3 238 c.194G>A c.(193-195)CGG>CAG p.R65Q ITGB2_uc002zge.2_Missense_Mutation_p.R65Q|ITGB2_uc002zgf.3_Missense_Mutation_p.R65Q|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.R65Q|ITGB2_uc002zgg.2_Missense_Mutation_p.R65Q NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 65 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CAGCTGTGGCCGGGTGTCGCA 0.652 25 58 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47532249 47532249 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:47532249G>C uc002zia.1 + 3 554 c.472G>C c.(472-474)GTG>CTG p.V158L COL6A2_uc002zhy.1_Missense_Mutation_p.V158L|COL6A2_uc002zhz.1_Missense_Mutation_p.V158L|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 158 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCACTTCGCCGTGGTCATCAC 0.711 6 26 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47832813 47832813 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr21:47832813G>A uc002zji.3 + 29 6164 c.6057G>A c.(6055-6057)GTG>GTA p.V2019V PCNT_uc002zjj.2_Silent_p.V1901V NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2019 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AAGAAGGCGTGATGTCAGTGC 0.572 4 120 --- --- --- --- PASS VPREB3 29802 broad.mit.edu 37 22 24095215 24095215 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:24095215C>T uc002zxt.2 - 2 300 c.220G>A c.(220-222)GAG>AAG p.E74K ZNF70_uc002zxs.2_5'Flank NM_013378 NP_037510 Q9UKI3 VPRE3_HUMAN pre-B lymphocyte 3 precursor 74 Ig-like. endoplasmic reticulum 0 Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334) TGATCCTCCTCCGAGCGGTAG 0.627 14 42 --- --- --- --- PASS GAS2L1 10634 broad.mit.edu 37 22 29706515 29706515 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:29706515G>C uc003afa.1 + 3 919 c.720G>C c.(718-720)TCG>TCC p.S240S GAS2L1_uc010gvm.1_Silent_p.S240S|GAS2L1_uc003afb.1_Silent_p.S240S|GAS2L1_uc003afc.1_Silent_p.S240S|GAS2L1_uc003afd.1_Silent_p.S240S|GAS2L1_uc003afe.1_Silent_p.S240S NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 240 GAR. cell cycle arrest cytoplasm|cytoskeleton 0 TGGGGGACTCGAGCCTGCTCA 0.677 14 77 --- --- --- --- PASS AP1B1 162 broad.mit.edu 37 22 29745309 29745309 + Silent SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:29745309C>A uc003afj.2 - 11 1519 c.1335G>T c.(1333-1335)CGG>CGT p.R445R AP1B1_uc003afi.2_Silent_p.R445R|AP1B1_uc003afk.2_Silent_p.R445R|AP1B1_uc003afl.2_Silent_p.R445R|AP1B1_uc011ako.1_5'UTR NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 445 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 TCATGGCAGCCCGGGCCTCAG 0.587 32 121 --- --- --- --- PASS ASCC2 84164 broad.mit.edu 37 22 30189459 30189459 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:30189459C>G uc003agr.2 - 17 1914 c.1809G>C c.(1807-1809)GAG>GAC p.E603D ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.E603D|ASCC2_uc011akr.1_Missense_Mutation_p.E527D NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) AGGGCAGGCTCTCGCCTGGCT 0.602 24 77 --- --- --- --- PASS RFPL3 10738 broad.mit.edu 37 22 32756259 32756259 + Missense_Mutation SNP G T T rs146565766 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:32756259G>T uc003amj.2 + 2 599 c.394G>T c.(394-396)GAC>TAC p.D132Y RFPL3_uc010gwn.2_Missense_Mutation_p.D103Y|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 132 B30.2/SPRY. zinc ion binding ovary(1) 1 CTTGGATGCCGACACAGCCAA 0.502 24 118 --- --- --- --- PASS CYTH4 27128 broad.mit.edu 37 22 37696994 37696994 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:37696994G>C uc003arf.2 + 7 597 c.481G>C c.(481-483)GAC>CAC p.D161H CYTH4_uc003are.2_Missense_Mutation_p.D161H|CYTH4_uc011amw.1_Missense_Mutation_p.D104H|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 161 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CCAGAAGATAGACCGGATGAT 0.687 9 30 --- --- --- --- PASS DDX17 10521 broad.mit.edu 37 22 38894559 38894559 + Silent SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:38894559C>T uc003avy.3 - 4 661 c.558G>A c.(556-558)TTG>TTA p.L186L DDX17_uc003avx.3_Silent_p.L186L|DDX17_uc011anu.1_Silent_p.L99L NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 107 Q motif. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) GCTGATCCATCAACACATCCA 0.393 18 164 --- --- --- --- PASS PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45127638 45127638 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:45127638G>T uc003bfd.2 + 5 623 c.351G>T c.(349-351)GAG>GAT p.E117D PRR5_uc003bew.1_Missense_Mutation_p.E108D|PRR5_uc003bex.1_Missense_Mutation_p.E22D|PRR5_uc010gzt.1_Missense_Mutation_p.E140D|PRR5_uc010gzu.1_Missense_Mutation_p.E81D|PRR5_uc003bey.1_Missense_Mutation_p.E108D|PRR5_uc003bez.1_Missense_Mutation_p.E22D|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.E10D|PRR5_uc003bfb.1_Missense_Mutation_p.E117D|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.E16D NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 CACTGGCAGAGACCTGGGACT 0.652 42 24 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45779481 45779481 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:45779481C>T uc003bgc.2 - 12 1976 c.1924G>A c.(1924-1926)GAT>AAT p.D642N SMC1B_uc003bgd.2_Missense_Mutation_p.D642N|SMC1B_uc003bge.1_Missense_Mutation_p.D425N NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 642 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AATGTTCCATCAAGAGCTACT 0.323 49 78 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46653841 46653841 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:46653841C>G uc003bhh.2 - 1 5379 c.5379G>C c.(5377-5379)TTG>TTC p.L1793F NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1793 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTTGCCTCATCAATGGAAGGC 0.408 6 398 --- --- --- --- PASS SBF1 6305 broad.mit.edu 37 22 50900000 50900000 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr22:50900000G>A uc003blh.2 - 22 2986 c.2791C>T c.(2791-2793)CTC>TTC p.L931F SBF1_uc011arx.1_Missense_Mutation_p.L595F|SBF1_uc003bli.2_Missense_Mutation_p.L932F NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 931 GRAM. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TACGTGGTGAGGAAGACGGCG 0.701 10 27 --- --- --- --- PASS WWC3 55841 broad.mit.edu 37 X 10047794 10047794 + Missense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:10047794G>T uc004csx.3 + 5 525 c.327G>T c.(325-327)CAG>CAT p.Q109H WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 109 Potential. ovary(4) 4 AGCTGACCCAGATGAAGCAGG 0.433 13 13 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18213564 18213564 + Splice_Site SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:18213564T>A uc004cyj.3 - 7 1188 c.1034_splice c.e7-1 p.A345_splice BEND2_uc010nfb.2_Intron NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 ovary(3)|kidney(1)|central_nervous_system(1) 5 TTTTCTCAGCTATTGGGAaaa 0.209 19 19 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18230740 18230740 + Missense_Mutation SNP C G G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:18230740C>G uc004cyj.3 - 4 591 c.437G>C c.(436-438)AGT>ACT p.S146T BEND2_uc010nfb.2_Missense_Mutation_p.S146T NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 146 ovary(3)|kidney(1)|central_nervous_system(1) 5 TGAGTTGTAACTGTATCTTCT 0.338 35 46 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22186486 22186486 + Missense_Mutation SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:22186486G>A uc004dah.2 + 13 1665 c.1462G>A c.(1462-1464)GTT>ATT p.V488I PHEX_uc011mjr.1_Missense_Mutation_p.V488I|PHEX_uc011mjs.1_Missense_Mutation_p.V391I NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 488 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TGATACTCATGTTAATGAAGA 0.363 27 35 --- --- --- --- PASS ACOT9 23597 broad.mit.edu 37 X 23723173 23723173 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:23723173T>C uc004dap.2 - 13 1163 c.1017A>G c.(1015-1017)GCA>GCG p.A339A ACOT9_uc004dan.2_Silent_p.A89A|ACOT9_uc004dao.2_Silent_p.A348A|ACOT9_uc004daq.2_Silent_p.A297A|ACOT9_uc004dar.2_Silent_p.A279A|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.A279A NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 339 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 TGTCATCTACTGCTACCACAA 0.408 44 31 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24721417 24721417 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:24721417C>T uc004dbl.2 + 3 223 c.200C>T c.(199-201)TCG>TTG p.S67L POLA1_uc004dbm.2_Missense_Mutation_p.S73L|POLA1_uc004dbn.2_5'UTR NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 67 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) GAACAGTATTCGAAGCTGGTT 0.478 6 6 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26157751 26157751 + Nonsense_Mutation SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:26157751G>T uc004dbq.1 + 2 836 c.649G>T c.(649-651)GAG>TAG p.E217* NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 217 MAGE. protein binding central_nervous_system(1) 1 TGCCCCAGAAGAGGCAGTCTG 0.463 5 3 --- --- --- --- PASS NR0B1 190 broad.mit.edu 37 X 30326502 30326502 + Nonsense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:30326502C>A uc004dcf.3 - 1 994 c.979G>T c.(979-981)GAG>TAG p.E327* NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 327 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CCCCCGGTCTCCCGCCGCCTG 0.677 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 11 --- --- --- --- PASS FTHL17 53940 broad.mit.edu 37 X 31089771 31089771 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:31089771G>T uc004dcl.1 - 1 403 c.300C>A c.(298-300)GCC>GCA p.A100A NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 100 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 CGGACTCCATGGCCACGAGCC 0.627 23 37 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148342 34148342 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:34148342G>C uc004ddg.2 - 1 2087 c.2054C>G c.(2053-2055)TCT>TGT p.S685C NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 685 ovary(4)|central_nervous_system(1) 5 TGCGGTATAAGAATTCGATGG 0.443 38 50 --- --- --- --- PASS TSPYL2 64061 broad.mit.edu 37 X 53117071 53117071 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:53117071C>T uc004drw.2 + 7 2164 c.2032C>T c.(2032-2034)CAG>TAG p.Q678* TSPYL2_uc004drv.2_3'UTR NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 678 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 GGATGTGCTTCAGGTCCCAAA 0.527 OREG0019795 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 19 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67940891 67940891 + Silent SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:67940891G>A uc004dxa.2 + 8 2307 c.1935G>A c.(1933-1935)AAG>AAA p.K645K STARD8_uc004dxb.2_Silent_p.K725K|STARD8_uc004dxc.3_Silent_p.K645K NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 645 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 ACCTGCTAAAGCAGTATTTCC 0.557 30 17 --- --- --- --- PASS ARR3 407 broad.mit.edu 37 X 69495998 69495998 + Missense_Mutation SNP T A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:69495998T>A uc004dyb.2 + 6 280 c.212T>A c.(211-213)TTC>TAC p.F71Y ARR3_uc004dya.2_Missense_Mutation_p.F71Y NM_004312 NP_004303 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 71 signal transduction|visual perception cytoplasm|soluble fraction large_intestine(2)|ovary(2) 4 GGTCTGACGTTCCGAAAAGAT 0.537 11 10 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75004088 75004088 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:75004088G>C uc004ecj.1 - 1 984 c.799C>G c.(799-801)CTG>GTG p.L267V NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 267 MAGE 1. ovary(1)|skin(1) 2 ACAAACTTCAGGGCTTCCATC 0.493 32 25 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79975093 79975093 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:79975093G>C uc004edt.2 - 18 2202 c.1939C>G c.(1939-1941)CTT>GTT p.L647V BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.L243V|BRWD3_uc004edp.2_Missense_Mutation_p.L476V|BRWD3_uc004edq.2_Missense_Mutation_p.L243V|BRWD3_uc010nmj.1_Missense_Mutation_p.L243V|BRWD3_uc004edr.2_Missense_Mutation_p.L317V|BRWD3_uc004eds.2_Missense_Mutation_p.L243V|BRWD3_uc004edu.2_Missense_Mutation_p.L317V|BRWD3_uc004edv.2_Missense_Mutation_p.L243V|BRWD3_uc004edw.2_Missense_Mutation_p.L243V|BRWD3_uc004edx.2_Missense_Mutation_p.L243V|BRWD3_uc004edy.2_Missense_Mutation_p.L243V|BRWD3_uc004edz.2_Missense_Mutation_p.L317V|BRWD3_uc004eea.2_Missense_Mutation_p.L317V|BRWD3_uc004eeb.2_Missense_Mutation_p.L243V NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 647 ovary(4) 4 ATTCCATCAAGAATGCTCTCA 0.393 9 64 --- --- --- --- PASS MIR361 494323 broad.mit.edu 37 X 85158697 85158697 + RNA SNP G A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:85158697G>A hsa-mir-361|MI0000760 - c.16G>A CHM_uc004eet.2_Intron|CHM_uc011mqz.1_Intron 0 tacccctggagattctgatAA 0.313 3 32 --- --- --- --- PASS BEX4 56271 broad.mit.edu 37 X 102471255 102471255 + Silent SNP T C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:102471255T>C uc004ejv.3 + 3 409 c.174T>C c.(172-174)CTT>CTC p.L58L BEX4_uc004ejw.3_Silent_p.L58L NM_001080425 NP_001073894 Q9NWD9 BEX4_HUMAN BEX family member 4 58 cytoplasm|nucleus skin(1) 1 TTAGGCGACTTGTCCCTAATT 0.507 24 12 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105189947 105189947 + Silent SNP A T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:105189947A>T uc004emd.2 + 25 4446 c.4143A>T c.(4141-4143)GCA>GCT p.A1381A NRK_uc011msi.1_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1381 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 AAATACAGGCAGCTGATCCAG 0.433 HNSCC(51;0.14) 9 10 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110490677 110490677 + Silent SNP G T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:110490677G>T uc004epc.1 - 12 1830 c.1662C>A c.(1660-1662)GTC>GTA p.V554V CAPN6_uc011msu.1_Silent_p.V299V NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 554 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 TATTCTTCTGGACAGGAGAAC 0.413 54 45 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117731471 117731471 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:117731471C>A uc004eqp.2 + 21 2404 c.2341C>A c.(2341-2343)CTT>ATT p.L781I DOCK11_uc004eqq.2_Missense_Mutation_p.L547I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 781 DHR-1. blood coagulation cytosol GTP binding ovary(3) 3 TTCCGCCAATCTTCCCCCAGG 0.403 4 143 --- --- --- --- PASS UPF3B 65109 broad.mit.edu 37 X 118986805 118986805 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:118986805G>C uc004erz.1 - 1 164 c.87C>G c.(85-87)ACC>ACG p.T29T UPF3B_uc004esa.1_Silent_p.T29T NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 29 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TGTCCCCCGAGGTCCCACCAC 0.642 67 139 --- --- --- --- PASS FAM70A 55026 broad.mit.edu 37 X 119394785 119394785 + Silent SNP C A A rs138279635 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:119394785C>A uc004eso.3 - 10 1217 c.990G>T c.(988-990)CCG>CCT p.P330P FAM70A_uc004esp.3_Silent_p.P306P|FAM70A_uc010nqo.2_Silent_p.P222P NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 330 Pro-rich. integral to membrane lung(1)|breast(1) 2 AGTAACGGGGCGGTGCACTTG 0.527 24 42 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123196827 123196827 + Missense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:123196827C>T uc004etz.3 + 17 2053 c.1714C>T c.(1714-1716)CCT>TCT p.P572S STAG2_uc004eua.2_Missense_Mutation_p.P572S|STAG2_uc004eub.2_Missense_Mutation_p.P572S|STAG2_uc004euc.2_Missense_Mutation_p.P572S|STAG2_uc004eud.2_Missense_Mutation_p.P572S|STAG2_uc004eue.2_Missense_Mutation_p.P572S NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 572 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CGTGGCCCTTCCTCAGTTATT 0.363 59 18 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128657245 128657245 + Missense_Mutation SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:128657245G>C uc004eun.3 - 1 216 c.103C>G c.(103-105)CAG>GAG p.Q35E SMARCA1_uc004eup.3_Missense_Mutation_p.Q35E|SMARCA1_uc011muk.1_Missense_Mutation_p.Q35E|SMARCA1_uc011mul.1_Missense_Mutation_p.Q35E NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 35 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 CCCTCCTCCTGAGAGGTGGAC 0.677 53 108 --- --- --- --- PASS PNMA5 114824 broad.mit.edu 37 X 152159171 152159171 + Silent SNP G C C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:152159171G>C uc010ntw.2 - 3 1311 c.972C>G c.(970-972)CTC>CTG p.L324L PNMA5_uc004fha.3_Silent_p.L324L|PNMA5_uc010ntx.2_Silent_p.L324L|PNMA5_uc004fgy.3_Silent_p.L324L NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 324 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CATCTCGAATGAGCTTCATTA 0.562 53 19 --- --- --- --- PASS PDZD4 57595 broad.mit.edu 37 X 153072813 153072813 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:153072813C>A uc004fiz.1 - 3 558 c.308G>T c.(307-309)AGC>ATC p.S103I PDZD4_uc004fiy.1_Missense_Mutation_p.S28I|PDZD4_uc004fix.2_Missense_Mutation_p.S7I|PDZD4_uc004fja.1_Missense_Mutation_p.S109I|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 103 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATACTCATGGCTGATTGGGGG 0.657 6 2 --- --- --- --- PASS MECP2 4204 broad.mit.edu 37 X 153295970 153295970 + Missense_Mutation SNP G C C rs61753972 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrX:153295970G>C uc004fjv.2 - 4 1535 c.1309C>G c.(1309-1311)CAG>GAG p.Q437E MECP2_uc004fjw.2_Missense_Mutation_p.Q449E NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 437 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACCGCGGGCTGAGTCTTAGCT 0.607 6 375 --- --- --- --- PASS ZFY 7544 broad.mit.edu 37 Y 2843674 2843674 + Nonsense_Mutation SNP C T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrY:2843674C>T uc004fqj.2 + 5 1228 c.907C>T c.(907-909)CAA>TAA p.Q303* ZFY_uc010nwd.1_Nonsense_Mutation_p.Q303*|ZFY_uc011nan.1_Nonsense_Mutation_p.Q112*|ZFY_uc010nwe.2_Nonsense_Mutation_p.Q277* NM_003411 NP_003402 P08048 ZFY_HUMAN zinc finger protein, Y-linked isoform 1 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAATGACTCTCAACAAGAAGA 0.254 28 57 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 4967431 4967431 + Missense_Mutation SNP C A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chrY:4967431C>A uc004fqo.2 + 2 2546 c.1812C>A c.(1810-1812)CAC>CAA p.H604Q PCDH11Y_uc010nwg.1_Missense_Mutation_p.H593Q|PCDH11Y_uc004fql.1_Missense_Mutation_p.H593Q|PCDH11Y_uc004fqm.1_Missense_Mutation_p.H593Q|PCDH11Y_uc004fqn.1_Missense_Mutation_p.H604Q|PCDH11Y_uc004fqp.1_Missense_Mutation_p.H375Q NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 604 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TTTTCACTCACAATGAATACA 0.393 79 26 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1424694 1424694 + Frame_Shift_Del DEL G - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr3:1424694delG uc003boz.2 + 18 2502 c.2235delG c.(2233-2235)TCGfs p.S745fs CNTN6_uc011asj.1_Frame_Shift_Del_p.S673fs|CNTN6_uc003bpa.2_Frame_Shift_Del_p.S745fs NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 745 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CAGTGGGCTCGACAACCTGGT 0.453 43 49 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96140340 96140340 + Frame_Shift_Del DEL G - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr4:96140340delG uc003htp.1 - 9 1579 c.1425delC c.(1423-1425)CCCfs p.P475fs UNC5C_uc010ilc.1_Frame_Shift_Del_p.P494fs|UNC5C_uc003htq.2_Frame_Shift_Del_p.P494fs NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 475 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTTTCAGGTTGGGCAGTGGAT 0.517 179 196 --- --- --- --- HCG4 54435 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA - - rs146714150 TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA uc003nns.2 - 1 c.478_498delTGCTCCATCCACGGCGCCCGC uc010jrm.1_In_Frame_Del_p.AGAVDGA111del|uc003nnt.2_In_Frame_Del_p.RAPWMEQ147del|uc011dma.1_5'Flank NR_002139 Homo sapiens clone HCG IV.9 unknown mRNA. 0 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 2 4 --- --- --- --- ESR1 2099 broad.mit.edu 37 6 152265522 152265522 + Frame_Shift_Del DEL G - - rs1801132 byFrequency TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr6:152265522delG uc003qom.3 + 6 1345 c.975delG c.(973-975)CCCfs p.P325fs ESR1_uc010kin.2_Frame_Shift_Del_p.P325fs|ESR1_uc010kio.2_Frame_Shift_Del_p.P327fs|ESR1_uc010kip.2_Frame_Shift_Del_p.P324fs|ESR1_uc003qon.3_Frame_Shift_Del_p.P325fs|ESR1_uc003qoo.3_Frame_Shift_Del_p.P325fs|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Frame_Shift_Del_p.P106fs|ESR1_uc010kit.1_Frame_Shift_Del_p.P62fs|ESR1_uc011eey.1_Frame_Shift_Del_p.P62fs NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 325 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CTGAGCCCCCGATACTCTATT 0.547 87 72 --- --- --- --- AOAH 313 broad.mit.edu 37 7 36580015 36580015 + Frame_Shift_Del DEL G - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr7:36580015delG uc003tfh.3 - 16 1617 c.1216delC c.(1216-1218)CACfs p.H406fs AOAH_uc010kxf.2_Frame_Shift_Del_p.H406fs|AOAH_uc011kba.1_Frame_Shift_Del_p.H374fs NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 406 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 TTGGGCAGGTGGGAATTTAGA 0.458 34 62 --- --- --- --- ANK1 286 broad.mit.edu 37 8 41542170 41542171 + Frame_Shift_Ins INS - A A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr8:41542170_41542171insA uc003xok.2 - 37 4512_4513 c.4428_4429insT c.(4426-4431)CGTGGCfs p.R1476fs NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Frame_Shift_Ins_p.R792fs|ANK1_uc003xoi.2_Frame_Shift_Ins_p.R1476fs|ANK1_uc003xoj.2_Frame_Shift_Ins_p.R1476fs|ANK1_uc003xol.2_Frame_Shift_Ins_p.R1476fs|ANK1_uc003xom.2_Frame_Shift_Ins_p.R1517fs NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1476_1477 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACGATCTCGCCACGGTCAATGC 0.609 143 103 --- --- --- --- PNLIPRP3 119548 broad.mit.edu 37 10 118202596 118202596 + Frame_Shift_Del DEL C - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr10:118202596delC uc001lcl.3 + 3 335 c.234delC c.(232-234)ATCfs p.I78fs NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 78 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) CTTCAACTATCCAAGCCTCAT 0.353 28 17 --- --- --- --- OR2D3 120775 broad.mit.edu 37 11 6942481 6942482 + Frame_Shift_Ins INS - T T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr11:6942481_6942482insT uc010rav.1 + 1 249_250 c.249_250insT c.(247-252)TCCTTTfs p.S83fs NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 83_84 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAAATCTCTCCTTTGCAGATCT 0.406 129 59 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20890118 20890118 + Frame_Shift_Del DEL G - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:20890118delG uc001rej.3 + 12 1815 c.1460delG c.(1459-1461)TGGfs p.W487fs SLCO1C1_uc010sii.1_Frame_Shift_Del_p.W487fs|SLCO1C1_uc010sij.1_Frame_Shift_Del_p.W438fs|SLCO1C1_uc009zip.2_Frame_Shift_Del_p.W321fs|SLCO1C1_uc001rei.2_Frame_Shift_Del_p.W487fs|SLCO1C1_uc010sik.1_Frame_Shift_Del_p.W369fs NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 487 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GAGACAAAATGGGAACCCATG 0.373 73 134 --- --- --- --- PDZRN4 29951 broad.mit.edu 37 12 41967593 41967593 + Frame_Shift_Del DEL G - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:41967593delG uc010skn.1 + 10 2483 c.2415delG c.(2413-2415)TTGfs p.L805fs PDZRN4_uc001rmq.3_Frame_Shift_Del_p.L746fs|PDZRN4_uc009zjz.2_Frame_Shift_Del_p.L744fs|PDZRN4_uc001rmr.2_Frame_Shift_Del_p.L631fs NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 1004 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGAAAATTTTGGACAACTGGA 0.458 46 30 --- --- --- --- KRT85 3891 broad.mit.edu 37 12 52761001 52761001 + Frame_Shift_Del DEL C - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr12:52761001delC uc001sag.2 - 1 309 c.189delG c.(187-189)GGGfs p.G63fs NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 63 Head. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTATCCGGGGCCCGCAGGAGC 0.711 54 30 --- --- --- --- Unknown 0 broad.mit.edu 37 15 83395495 83395502 + Frame_Shift_Del DEL ACGGCAGT - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr15:83395495_83395502delACGGCAGT uc002bjb.2 - 3 800_807 c.331_338delACTGCCGT c.(331-339)ACTGCCGTGfs p.T111fs Homo sapiens actin, gamma pseudogene, mRNA (cDNA clone IMAGE:4866674), with apparent retained intron. GGAAGAGGACACGGCAGTGGCCATCTCC 0.577 6 3 --- --- --- --- MAPT 4137 broad.mit.edu 37 17 44060961 44060961 + Frame_Shift_Del DEL C - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:44060961delC uc002ijr.3 + 6 1111 c.791delC c.(790-792)GCCfs p.A264fs MAPT_uc010dau.2_Frame_Shift_Del_p.A264fs|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 264 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) GCGGAGGGTGCCATCCCCCTC 0.667 45 39 --- --- --- --- SLC38A10 124565 broad.mit.edu 37 17 79220444 79220444 + Frame_Shift_Del DEL C - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr17:79220444delC uc002jzz.1 - 16 2647 c.2272delG c.(2272-2274)GTGfs p.V758fs SLC38A10_uc002jzy.1_Frame_Shift_Del_p.V676fs NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 758 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCTCTGGGCACCGCTGCCCCG 0.627 163 100 --- --- --- --- OVOL2 58495 broad.mit.edu 37 20 18022309 18022309 + Frame_Shift_Del DEL C - - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx c107ca1d-5e35-470a-8c39-80dc7624e306 6dc5dbe8-5126-428e-b5e4-9514747bd33a g.chr20:18022309delC uc002wqi.1 - 3 623 c.380delG c.(379-381)GGCfs p.G127fs NM_021220 NP_067043 Q9BRP0 OVOL2_HUMAN zinc finger protein 339 127 C2H2-type 1. negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 CAGACGGAAGCCCTTGCCACA 0.617 30 34 --- --- --- ---