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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample GNB1 2782 broad.mit.edu 37 1 1721920 1721920 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:1721920C>T uc001aif.2 - 9 945 c.613G>A c.(613-615)GAT>AAT p.D205N GNB1_uc009vky.2_Missense_Mutation_p.D105N NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 205 WD 4. cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) GCTGAAGCATCACAAGCACCA 0.562 NaN 0 0 0 0.004656 0 24 48 WDR8 49856 broad.mit.edu 37 1 3548889 3548889 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:3548889A>G uc001ako.2 - 10 1044 c.936T>C c.(934-936)TCT>TCC p.S312S WDR8_uc001akn.3_Silent_p.S312S|WDR8_uc010nzi.1_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN WD repeat domain 8 312 centrosome protein binding 0 all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-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;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AGACTGGGACAGAGGCGATCT 0.537 NaN 0 0 0 0.008361 0 26 86 CAMTA1 23261 broad.mit.edu 37 1 7806147 7806147 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:7806147A>G uc001aoi.2 + 18 4820 c.4613A>G c.(4612-4614)TAC>TGC p.Y1538C CAMTA1_uc001aok.3_Missense_Mutation_p.Y581C|CAMTA1_uc001aoj.2_Missense_Mutation_p.Y494C|CAMTA1_uc009vmf.2_Missense_Mutation_p.Y128C NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1538 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TTCCGGAAATACAAGGTAAAC 0.413 NaN 0 0 0 0.002299 0 22 67 UBE4B 10277 broad.mit.edu 37 1 10239490 10239490 + Silent SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:10239490C>G uc001aqs.3 + 27 4430 c.3717C>G c.(3715-3717)ACC>ACG p.T1239T UBE4B_uc001aqr.3_Silent_p.T1110T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.T694T|UBE4B_uc001aqu.2_Silent_p.T120T NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1239 U-box. apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TGATGGACACCCTCATGACAG 0.572 NaN 0 0 0 0.001882 0 21 109 UBR4 23352 broad.mit.edu 37 1 19447716 19447716 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:19447716T>C uc001bbi.2 - 68 10112 c.10108A>G c.(10108-10110)AGC>GGC p.S3370G UBR4_uc001bbk.1_Missense_Mutation_p.S1017G NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3370 Ser-rich. interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCTTTCTTGCTCTTTTTAGTG 0.473 NaN 0 0 0 0.003755 0 28 96 NBPF3 84224 broad.mit.edu 37 1 21800042 21800042 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:21800042C>A uc001ber.2 + 7 1254 c.904C>A c.(904-906)CAT>AAT p.H302N NBPF3_uc001bes.2_Missense_Mutation_p.H246N|NBPF3_uc009vqb.2_Missense_Mutation_p.H302N|NBPF3_uc010odm.1_Missense_Mutation_p.H232N NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 302 NBPF 1. cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTCATCCTCTCATGATGAATG 0.448 NaN 1 0 3.31034e-53 0.00361 4.5162e-53 81 255 USP48 84196 broad.mit.edu 37 1 22074634 22074634 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:22074634T>A uc001bfb.2 - 7 1143 c.905A>T c.(904-906)GAC>GTC p.D302V USP48_uc010odq.1_Missense_Mutation_p.D302V|USP48_uc009vqc.2_Missense_Mutation_p.D302V|USP48_uc001bfc.2_Missense_Mutation_p.D302V|USP48_uc001bfe.1_Missense_Mutation_p.D302V|USP48_uc001bff.2_Missense_Mutation_p.D302V NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 302 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CATTTACCTGTCAAAGACAAA 0.363 NaN 0 0 0 0.008871 0 20 40 HSPG2 3339 broad.mit.edu 37 1 22155497 22155497 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:22155497T>A uc001bfj.2 - 88 12108 c.12068A>T c.(12067-12069)AAG>ATG p.K4023M HSPG2_uc001bfi.2_Missense_Mutation_p.K40M|HSPG2_uc009vqd.2_Missense_Mutation_p.K4024M NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 4023 Laminin G-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCTGCCGTCCTTGTTGAGACG 0.701 NaN 0 0 0 0.004672 0 3 6 HSPG2 3339 broad.mit.edu 37 1 22169324 22169324 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:22169324C>A uc001bfj.2 - 67 8889 c.8849G>T c.(8848-8850)GGG>GTG p.G2950V HSPG2_uc009vqd.2_Missense_Mutation_p.G2951V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2950 Ig-like C2-type 15. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ATGGGCCTGCCCGGGCACCAC 0.657 NaN 1 0 1.13719e-10 0.008361 1.4475e-10 30 98 MYOM3 127294 broad.mit.edu 37 1 24401849 24401849 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:24401849G>T uc001bin.3 - 22 2981 c.2818C>A c.(2818-2820)CTG>ATG p.L940M MYOM3_uc001bim.3_Missense_Mutation_p.L597M|MYOM3_uc001bio.2_Missense_Mutation_p.L940M NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 940 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGGGGTCCAGTGGGCCCTTG 0.512 NaN 1 0 3.31993e-32 0.00361 4.48219e-32 53 146 TMEM57 55219 broad.mit.edu 37 1 25810726 25810726 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:25810726T>G uc001bkk.2 + 7 1476 c.1274T>G c.(1273-1275)ATG>AGG p.M425R TMEM57_uc009vru.2_Missense_Mutation_p.M198R|TMEM57_uc009vrv.2_Missense_Mutation_p.M67R NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 425 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) CGCTCAGAAATGGGCCAGCTT 0.572 NaN 0 0 0 0.008871 0 21 94 DHDDS 79947 broad.mit.edu 37 1 26786621 26786621 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:26786621C>G uc001bml.2 + 8 872 c.751C>G c.(751-753)CAT>GAT p.H251D DHDDS_uc001bmk.2_Missense_Mutation_p.H251D|DHDDS_uc001bmm.2_Missense_Mutation_p.H158D|DHDDS_uc001bmn.2_Missense_Mutation_p.H212D|DHDDS_uc010ofd.1_Missense_Mutation_p.H217D NM_205861 NP_995583 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase isoform b 251 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(3) 3 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) CCAGATGAACCATAGCGTGCT 0.493 NaN 0 0 0 0.002222 0 42 134 RPS6KA1 6195 broad.mit.edu 37 1 26885394 26885394 + Missense_Mutation SNP G G T rs147534995 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:26885394G>T uc001bmr.1 + 14 1344 c.1181G>T c.(1180-1182)CGT>CTT p.R394L RPS6KA1_uc010ofe.1_Missense_Mutation_p.R302L|RPS6KA1_uc010off.1_Missense_Mutation_p.R378L|RPS6KA1_uc001bms.1_Missense_Mutation_p.R403L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R237L NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 394 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GGCAAGCCTCGTGCCCCGCAG 0.637 NaN 1 0 4.47668e-21 0.003954 5.93084e-21 24 55 GRIK3 2899 broad.mit.edu 37 1 37267622 37267622 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:37267622C>T uc001caz.2 - 16 2725 c.2590G>A c.(2590-2592)GAT>AAT p.D864N NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 864 Cytoplasmic (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGGATCTCATCGGCCACGGTG 0.582 NaN 0 0 0 0.001368 0 12 33 ZC3H12A 80149 broad.mit.edu 37 1 37941247 37941247 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:37941247G>T uc001cbb.3 + 2 300 c.150G>T c.(148-150)ATG>ATT p.M50I NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 50 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AACTGCAGATGAAGGTGGACT 0.622 NaN 1 0 1.67942e-08 0.006122 2.09658e-08 17 64 HEYL 26508 broad.mit.edu 37 1 40105218 40105218 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:40105218C>G uc001cdp.2 - 1 131 c.80G>C c.(79-81)AGC>ACC p.S27T NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN hairy/enhancer-of-split related with YRPW 27 multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CGGCCCTTACCTCAGCTGGCC 0.746 NaN 0 0 0 0.000602 0 5 13 CAP1 10487 broad.mit.edu 37 1 40525127 40525127 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:40525127A>C uc001cfa.3 + 2 338 c.109A>C c.(109-111)AAA>CAA p.K37Q CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.K37Q|CAP1_uc001cez.3_Missense_Mutation_p.K37Q|CAP1_uc009vvz.2_Missense_Mutation_p.K37Q|CAP1_uc010oje.1_Missense_Mutation_p.Q6H NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 37 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGTCCTTCAAAAGGTAAGCA 0.478 NaN 0 0 0 0.006122 0 19 52 SCMH1 22955 broad.mit.edu 37 1 41493986 41493986 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:41493986G>T uc001cgo.2 - 16 2174 c.1863C>A c.(1861-1863)ATC>ATA p.I621I SCMH1_uc010ojr.1_Silent_p.I441I|SCMH1_uc001cgp.2_Silent_p.I560I|SCMH1_uc001cgr.2_Silent_p.I538I|SCMH1_uc001cgs.2_Silent_p.I609I|SCMH1_uc001cgt.2_Silent_p.I538I|SCMH1_uc001cgq.2_Silent_p.I552I NM_001031694 NP_001026864 Q96GD3 SCMH1_HUMAN sex comb on midleg 1 isoform 1 621 SAM. anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CCTTGCCATCGATCTCCTGGG 0.597 NaN 1 0 1.10923e-09 0.00278 1.39145e-09 24 63 EBNA1BP2 10969 broad.mit.edu 37 1 43636436 43636436 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:43636436C>T uc001cin.2 - 4 635 c.438G>A c.(436-438)CAG>CAA p.Q146Q EBNA1BP2_uc001cio.2_Silent_p.Q201Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Silent_p.Q41Q|EBNA1BP2_uc010ojx.1_Silent_p.Q201Q NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 146 Potential. ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTTCTGCATCTGCAGATCAG 0.453 NaN 0 0 0 0.00361 0 48 180 CCDC24 149473 broad.mit.edu 37 1 44461475 44461475 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:44461475G>A uc001clj.2 + 8 819 c.648G>A c.(646-648)ATG>ATA p.M216I SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.M171I|CCDC24_uc009vxc.2_Missense_Mutation_p.M180I NM_152499 NP_689712 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 216 Potential. 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) AGAAGGCCATGGAGCAGGAGC 0.557 NaN 0 0 0 0.00361 0 45 153 CCDC24 149473 broad.mit.edu 37 1 44461719 44461719 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:44461719C>T uc001clj.2 + 9 982 c.811C>T c.(811-813)CGA>TGA p.R271* SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.F224F|CCDC24_uc009vxc.2_Nonsense_Mutation_p.R235* NM_152499 NP_689712 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 271 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GCCCTACCTTCGACCTCGAGG 0.677 NaN 0 0 0 0.002222 0 44 84 NASP 4678 broad.mit.edu 37 1 46072194 46072194 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:46072194C>A uc001coi.1 + 5 442 c.340C>A c.(340-342)CAT>AAT p.H114N NASP_uc010olq.1_Missense_Mutation_p.H77N|NASP_uc001coh.1_Missense_Mutation_p.H116N|NASP_uc001coj.1_Missense_Mutation_p.H114N|NASP_uc010olr.1_Missense_Mutation_p.H50N|NASP_uc001cok.1_5'UTR NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 114 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GGAAGGTGTGCATGTGGAAGA 0.393 NaN 1 0 1.36565e-18 0.00278 1.79399e-18 22 62 ELAVL4 1996 broad.mit.edu 37 1 50661283 50661283 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:50661283G>A uc001csb.2 + 5 827 c.559G>A c.(559-561)GAA>AAA p.E187K ELAVL4_uc001cry.3_Missense_Mutation_p.E190K|ELAVL4_uc001crz.3_Missense_Mutation_p.E187K|ELAVL4_uc001csa.3_Missense_Mutation_p.E204K|ELAVL4_uc001csc.3_Missense_Mutation_p.E187K|ELAVL4_uc009vyu.2_Missense_Mutation_p.E192K|ELAVL4_uc010omz.1_Missense_Mutation_p.E192K NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 187 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GATTGAGGCAGAAGAAGCCAT 0.522 NaN 0 0 0 0.002222 0 41 108 PRPF38A 84950 broad.mit.edu 37 1 52874277 52874277 + Silent SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:52874277G>C uc001ctv.3 + 3 530 c.327G>C c.(325-327)CTG>CTC p.L109L PRPF38A_uc001ctw.3_Intron NM_032864 NP_116253 Q8NAV1 PR38A_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 109 mRNA processing|RNA splicing spliceosomal complex 0 ACATGAGGCTGACAGGCACTG 0.453 NaN 0 0 0 0.001882 0 22 76 HOOK1 51361 broad.mit.edu 37 1 60309252 60309252 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:60309252T>C uc009wad.2 + 10 872 c.770T>C c.(769-771)TTA>TCA p.L257S HOOK1_uc001czo.2_Missense_Mutation_p.L257S|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.L215S NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 257 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) CTAGAACAATTACAGGAAGAA 0.323 NaN 0 0 0 0.00245 0 15 45 LRRC7 57554 broad.mit.edu 37 1 70504742 70504742 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:70504742G>A uc001dep.2 + 19 3151 c.3121G>A c.(3121-3123)GAA>AAA p.E1041K LRRC7_uc009wbg.2_Missense_Mutation_p.E325K|LRRC7_uc001deq.2_Missense_Mutation_p.E282K NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1041 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGGATCAGTGGAAGTGAAAGC 0.448 NaN 0 0 0 0.001368 0 13 48 FPGT 8790 broad.mit.edu 37 1 74670826 74670826 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:74670826T>C uc001dgb.1 + 4 1132 c.1095T>C c.(1093-1095)TAT>TAC p.Y365Y 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 365 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 CCGAAGAATATTTGTTTTACT 0.328 NaN 0 0 0 0.002299 0 21 58 ST6GALNAC5 81849 broad.mit.edu 37 1 77509952 77509952 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:77509952C>G uc001dhi.2 + 3 500 c.325C>G c.(325-327)CGG>GGG p.R109G ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 109 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 GCTGCACAGTCGGCAAGGCTC 0.617 NaN 0 0 0 0.00499 0 16 69 USP33 23032 broad.mit.edu 37 1 78177467 78177467 + Nonsense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:78177467T>A uc001dht.2 - 22 2811 c.2464A>T c.(2464-2466)AAA>TAA p.K822* USP33_uc001dhs.2_Nonsense_Mutation_p.K543*|USP33_uc001dhu.2_Nonsense_Mutation_p.K791*|USP33_uc001dhv.2_Nonsense_Mutation_p.K627*|USP33_uc001dhw.2_Nonsense_Mutation_p.K814* NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 822 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TTTCTTCTTTTTTCAATTTTC 0.328 NaN 0 0 0 0.001882 0 22 59 OVGP1 5016 broad.mit.edu 37 1 111966296 111966296 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:111966296C>G uc001eba.2 - 5 408 c.352G>C c.(352-354)GAA>CAA p.E118Q OVGP1_uc001eaz.2_Missense_Mutation_p.E80Q|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.E108Q NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 118 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) ATAAACTTTTCACGGTTGGCA 0.458 NaN 0 0 0 0.002299 0 20 72 MAGI3 260425 broad.mit.edu 37 1 114196636 114196636 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:114196636A>G uc001edk.2 + 15 2806 c.2625A>G c.(2623-2625)CCA>CCG p.P875P MAGI3_uc001edh.3_Silent_p.P900P|MAGI3_uc001edi.3_Silent_p.P875P|MAGI3_uc010owm.1_Silent_p.P900P|MAGI3_uc001edj.2_Silent_p.P596P NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 900 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACCACCTCCAGGAGGTAAGG 0.443 NaN 0 0 0 0.00361 0 71 185 CD101 9398 broad.mit.edu 37 1 117559992 117559992 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:117559992C>G uc010oxb.1 + 5 1567 c.1509C>G c.(1507-1509)ATC>ATG p.I503M CD101_uc009whd.2_Missense_Mutation_p.I503M|CD101_uc010oxc.1_Missense_Mutation_p.I503M|CD101_uc010oxd.1_Missense_Mutation_p.I441M NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 503 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TCACTGCCATCACAGACAGTG 0.517 NaN 0 0 0 0.008361 0 30 88 WDR3 10885 broad.mit.edu 37 1 118486119 118486119 + Missense_Mutation SNP A A G rs141364091 byFrequency TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:118486119A>G uc010oxe.1 + 11 1264 c.1198A>G c.(1198-1200)ACT>GCT p.T400A WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 400 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) ATCCTTGCCTACTCCTCAGCC 0.473 NaN 0 0 0 0.004672 0 3 100 SPAG17 200162 broad.mit.edu 37 1 118506543 118506543 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:118506543T>C uc001ehk.2 - 48 6619 c.6551A>G c.(6550-6552)AAT>AGT p.N2184S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2184 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) TTTATCATAATTGCTGCTTGT 0.333 NaN 0 0 0 0.00623 0 35 108 NOTCH2 4853 broad.mit.edu 37 1 120462024 120462024 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:120462024C>T uc001eik.2 - 31 5948 c.5692G>A c.(5692-5694)GAT>AAT p.D1898N NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1898 Cytoplasmic (Potential).|ANK 2. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCACCTGCATCCAGGAGACGC 0.617 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 0.003954 0 25 88 ITGA10 8515 broad.mit.edu 37 1 145541826 145541826 + Missense_Mutation SNP C C T rs140404631 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:145541826C>T uc001eoa.2 + 29 3425 c.3349C>T c.(3349-3351)CGG>TGG p.R1117W NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R986W|ITGA10_uc009wiw.2_Missense_Mutation_p.R974W|ITGA10_uc010oyw.1_Missense_Mutation_p.R1024W NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 1117 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGTTCAGACCCGGCCTATCCT 0.532 NaN 0 0 0 0.004878 0 34 111 FCGR1A 2209 broad.mit.edu 37 1 149762804 149762804 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:149762804C>T uc001esp.3 + 6 906 c.856C>T c.(856-858)CCA>TCA p.P286S HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 286 Extracellular (Potential). interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTCCAGTTACCAACTCCTGT 0.423 NaN 0 0 0 0.003271 0 23 64 HORMAD1 84072 broad.mit.edu 37 1 150679028 150679028 + Splice_Site SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:150679028C>A uc001evk.1 - 10 910 c.804_splice c.e10+1 p.S268_splice HORMAD1_uc001evl.1_Splice_Site_p.S261_splice|HORMAD1_uc001evm.1_Splice_Site_p.S188_splice NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) AATACACTTACACTTGTATAA 0.294 NaN 1 0 6.31663e-08 0.003163 7.82298e-08 13 106 PRUNE 58497 broad.mit.edu 37 1 150990968 150990968 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:150990968T>G uc001ewh.1 + 3 294 c.158T>G c.(157-159)GTG>GGG p.V53G PRUNE_uc001ewi.1_Intron|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 53 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAAGTCTTTGTGCCAGTTTTA 0.383 NaN 0 0 0 0.00361 0 47 234 C1orf56 54964 broad.mit.edu 37 1 151020344 151020344 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:151020344G>A uc001ewn.2 + 1 86 c.21G>A c.(19-21)GCG>GCA p.A7A NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 7 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCGCCGGCGCGCTGCTGTGGG 0.687 NaN 0 0 0 0.00308 0 8 29 KRTCAP2 200185 broad.mit.edu 37 1 155145217 155145217 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:155145217G>A uc001fho.2 - 2 260 c.234C>T c.(232-234)CTC>CTT p.L78L RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Silent_p.L78L|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank NM_173852 NP_776251 Q8N6L1 KTAP2_HUMAN keratinocyte associated protein 2 78 Helical; (Potential). integral to membrane 0 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGGATACAGTGAGCGAGAACA 0.617 NaN 0 0 0 0.00245 0 13 32 HCN3 57657 broad.mit.edu 37 1 155247568 155247568 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:155247568C>T uc001fjz.1 + 1 195 c.187C>T c.(187-189)CGG>TGG p.R63W RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 63 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(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) GTTCTCCCTTCGGGTGTTCGG 0.622 NaN 0 0 0 0.001368 0 10 20 HCN3 57657 broad.mit.edu 37 1 155247576 155247576 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:155247576C>T uc001fjz.1 + 1 203 c.195C>T c.(193-195)TTC>TTT p.F65F RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 65 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(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) TTCGGGTGTTCGGCAGCCACA 0.622 NaN 0 0 0 0.001368 0 11 18 ASH1L 55870 broad.mit.edu 37 1 155490915 155490915 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:155490915C>T uc009wqq.2 - 2 876 c.396G>A c.(394-396)AAG>AAA p.K132K ASH1L_uc001fkt.2_Silent_p.K132K|ASH1L_uc009wqr.1_Silent_p.K132K NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 132 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGTGTTCATTCTTTTCATCCG 0.333 NaN 0 0 0 0.00361 0 78 271 SYT11 23208 broad.mit.edu 37 1 155838178 155838178 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:155838178G>C uc001fmg.2 + 2 720 c.457G>C c.(457-459)GAG>CAG p.E153Q SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 153 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) ATCATCTCCAGAGGAGGATGT 0.517 NaN 0 0 0 0.00361 0 47 139 SYT11 23208 broad.mit.edu 37 1 155838197 155838197 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:155838197G>A uc001fmg.2 + 2 739 c.476G>A c.(475-477)GGA>GAA p.G159E SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 159 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GTCATGCTAGGATCCCTCACC 0.537 NaN 0 0 0 0.00623 0 41 122 SLC25A44 9673 broad.mit.edu 37 1 156180072 156180072 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:156180072G>A uc001fnp.2 + 4 1117 c.795G>A c.(793-795)CTG>CTA p.L265L SLC25A44_uc010phc.1_Silent_p.L156L|SLC25A44_uc009wrr.2_Silent_p.L273L|SLC25A44_uc010phd.1_RNA|SLC25A44_uc010phe.1_RNA|PMF1_uc009wru.1_5'Flank|PMF1_uc001fnq.2_5'Flank|PMF1_uc001fnr.2_5'Flank|BGLAP_uc001fns.1_5'Flank NM_014655 NP_055470 Q96H78 S2544_HUMAN solute carrier family 25, member 44 265 Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding ovary(1) 1 Hepatocellular(266;0.158) TCAGACAGCTGATGGCAGAAG 0.547 NaN 0 0 0 0.003271 0 34 69 APOA1BP 128240 broad.mit.edu 37 1 156561602 156561602 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:156561602C>T uc001fph.2 + 1 45 c.6C>T c.(4-6)TCC>TCT p.S2S APOA1BP_uc001fpg.2_Silent_p.S2S|APOA1BP_uc001fpi.2_Silent_p.S2S|APOA1BP_uc001fpj.2_5'UTR|APOA1BP_uc001fpk.2_5'UTR|APOA1BP_uc010php.1_5'UTR NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 2 extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTGGATGTCCAGGCTGCGGG 0.612 NaN 0 0 0 0.004672 0 3 14 SH2D2A 9047 broad.mit.edu 37 1 156779017 156779017 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:156779017G>T uc001fqd.2 - 7 1120 c.980C>A c.(979-981)TCC>TAC p.S327Y SH2D2A_uc001fqc.1_Missense_Mutation_p.S299Y|SH2D2A_uc009wsh.2_Missense_Mutation_p.S337Y|SH2D2A_uc001fqe.2_Missense_Mutation_p.S309Y|SH2D2A_uc010phs.1_Missense_Mutation_p.S327Y NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 327 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GACAGGCCTGGACCAGCTCTT 0.602 NaN 1 0 3.82633e-55 0.00361 5.22931e-55 95 240 CD1E 913 broad.mit.edu 37 1 158326312 158326312 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:158326312T>G uc001fse.2 + 5 1168 c.929T>G c.(928-930)CTG>CGG p.L310R CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Silent_p.P275P|CD1E_uc001fsk.2_Missense_Mutation_p.L220R|CD1E_uc001fsj.2_Missense_Mutation_p.L165R|CD1E_uc001fsc.2_Missense_Mutation_p.L121R|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.L66R|CD1E_uc001fsf.2_Missense_Mutation_p.L310R|CD1E_uc001fry.2_Missense_Mutation_p.L255R|CD1E_uc001fsg.2_Silent_p.P86P|CD1E_uc001fsh.2_Missense_Mutation_p.L121R|CD1E_uc001fsi.2_Silent_p.P275P|CD1E_uc009wsv.2_Missense_Mutation_p.L211R|CD1E_uc001frz.2_Missense_Mutation_p.L220R|CD1E_uc009wsw.2_Intron NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 310 Helical; (Potential). antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TTTCTCATCCTGATCTGTTTG 0.393 NaN 0 0 0 0.000978 0 11 37 PPOX 5498 broad.mit.edu 37 1 161140930 161140930 + Silent SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:161140930A>C uc001fyj.2 + 13 1688 c.1398A>C c.(1396-1398)GCA>GCC p.A466A PPOX_uc001fyn.2_Silent_p.A174A|PPOX_uc001fyg.2_Silent_p.A466A|PPOX_uc001fyl.2_Silent_p.A432A|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Silent_p.A304A|PPOX_uc001fyh.2_Silent_p.A304A|PPOX_uc010pkg.1_Silent_p.A304A|PPOX_uc009wuc.1_Silent_p.A267A|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 466 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGCGCCAGGCAGCAGTCAGTG 0.512 NaN Porphyria_Variegata 0 0 0 0.002852 0 40 174 NR1I3 9970 broad.mit.edu 37 1 161201118 161201118 + Splice_Site SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:161201118C>A uc001fzx.2 - 6 897 c.694_splice c.e6+1 p.V232_splice TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Splice_Site_p.V232_splice|NR1I3_uc001fzg.2_Splice_Site_p.V203_splice|NR1I3_uc001fzh.2_Splice_Site_p.V203_splice|NR1I3_uc001fzi.2_Splice_Site_p.V203_splice|NR1I3_uc001fzj.2_Splice_Site_p.V203_splice|NR1I3_uc001fzk.2_Splice_Site_p.D203_splice|NR1I3_uc001fzl.2_Splice_Site_p.D203_splice|NR1I3_uc001fzm.2_Splice_Site_p.V157_splice|NR1I3_uc001fzn.2_Splice_Site_p.D65_splice|NR1I3_uc009wug.2_Splice_Site_p.V65_splice|NR1I3_uc001fzp.2_Splice_Site_p.V232_splice|NR1I3_uc001fzo.2_Splice_Site_p.V65_splice|NR1I3_uc001fzq.2_Splice_Site_p.V128_splice|NR1I3_uc001fzr.2_Splice_Site_p.V128_splice|NR1I3_uc001fzs.2_Splice_Site_p.D65_splice|NR1I3_uc001fzt.2_Splice_Site_p.D65_splice|NR1I3_uc001fzu.2_Splice_Site_p.V99_splice|NR1I3_uc001fzv.2_Splice_Site_p.V99_splice|NR1I3_uc001fzw.2_Splice_Site_p.V232_splice|NR1I3_uc001fzy.2_Splice_Site_p.V232_splice|NR1I3_uc001fzz.2_Splice_Site_p.A232_splice|NR1I3_uc001gaa.2_Splice_Site_p.D232_splice|NR1I3_uc001gab.2_Splice_Site_p.D232_splice|NR1I3_uc001gac.2_Splice_Site_p.V203_splice|NR1I3_uc010pkm.1_Splice_Site_p.V203_splice|NR1I3_uc010pkn.1_Missense_Mutation_p.G232V NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CACCATCTCACCACGGGCTCC 0.507 NaN 1 0 6.32553e-13 0.004656 8.10459e-13 23 102 TNN 63923 broad.mit.edu 37 1 175086247 175086247 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:175086247G>A uc001gkl.1 + 10 2405 c.2292G>A c.(2290-2292)CTG>CTA p.L764L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 764 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCACTGTCCTGACGGGCCTGA 0.637 NaN 0 0 0 0.00632 0 27 95 CEP350 9857 broad.mit.edu 37 1 179989993 179989993 + Silent SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:179989993C>A uc001gnt.2 + 12 3467 c.3084C>A c.(3082-3084)ATC>ATA p.I1028I CEP350_uc009wxl.2_Silent_p.I1027I|CEP350_uc001gnu.2_Silent_p.I862I NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1028 centrosome|nucleus|spindle ovary(4) 4 ATGAACCCATCAAAGAGTTTC 0.403 NaN 1 0 1.33834e-09 0.007413 1.67615e-09 18 46 DHX9 1660 broad.mit.edu 37 1 182845362 182845362 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:182845362A>G uc001gpr.2 + 17 2156 c.1993A>G c.(1993-1995)ACT>GCT p.T665A DHX9_uc001gps.2_Missense_Mutation_p.T451A NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 665 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TCTGATTTATACTATGCAGAA 0.373 NaN 0 0 0 0.002522 0 43 126 PTGS2 5743 broad.mit.edu 37 1 186648486 186648486 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:186648486C>A uc001gsb.2 - 2 274 c.137G>T c.(136-138)CGG>CTG p.R46L PTGS2_uc009wyo.2_5'UTR NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 46 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAATCCTGTCCGGGTACAATC 0.438 NaN 1 0 4.4004e-07 0.00333 5.43251e-07 24 55 CFH 3075 broad.mit.edu 37 1 196712595 196712595 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:196712595G>A uc001gtj.3 + 20 3387 c.3147G>A c.(3145-3147)GTG>GTA p.V1049V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1049 Sushi 18. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CCTCCTGTGTGAATCCGCCCA 0.373 NaN 0 0 0 0.002299 0 22 115 BTG2 7832 broad.mit.edu 37 1 203276382 203276382 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:203276382G>C uc001gzq.2 + 2 364 c.293G>C c.(292-294)AGC>ACC p.S98T FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 98 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) CTGCTGCCCAGCGAGCTGACC 0.642 NaN 0 0 0 0.004007 0 17 80 KLHDC8A 55220 broad.mit.edu 37 1 205312535 205312535 + Silent SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:205312535G>C uc001hcf.1 - 2 766 c.198C>G c.(196-198)CCC>CCG p.P66P KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.P66P NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 66 Kelch 2. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CCCGGGCTGTGGGCAGCCGGG 0.677 NaN 0 0 0 0.006999 0 39 94 SRGAP2 23380 broad.mit.edu 37 1 206628299 206628299 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:206628299G>A uc001hdy.2 + 18 2508 c.2175G>A c.(2173-2175)GTG>GTA p.V725V SRGAP2_uc001hdx.2_Silent_p.V725V|SRGAP2_uc010pru.1_Silent_p.V648V NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 812 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) AAGAAAAGGTGACAGCCAGAG 0.552 NaN 0 0 0 0.003755 0 35 87 SRGAP2 23380 broad.mit.edu 37 1 206628307 206628307 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:206628307G>T uc001hdy.2 + 18 2516 c.2183G>T c.(2182-2184)AGA>ATA p.R728I SRGAP2_uc001hdx.2_Missense_Mutation_p.R728I|SRGAP2_uc010pru.1_Missense_Mutation_p.R651I NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 815 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) GTGACAGCCAGAGCGGGGGCC 0.537 NaN 1 0 1.58521e-26 0.005524 2.12543e-26 38 91 TLR5 7100 broad.mit.edu 37 1 223285245 223285245 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:223285245C>T uc001hnv.1 - 4 1575 c.1129G>A c.(1129-1131)GAC>AAC p.D377N TLR5_uc001hnw.1_Missense_Mutation_p.D377N NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 377 Extracellular (Potential).|LRR 8. cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) AATGTTTGGTCTTGAATTATT 0.368 NaN 0 0 0 0.00278 0 25 88 C1orf69 200205 broad.mit.edu 37 1 228362831 228362831 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:228362831G>C uc001hsl.3 + 3 777 c.688G>C c.(688-690)GAG>CAG p.E230Q C1orf69_uc010pvw.1_Missense_Mutation_p.E37Q NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 230 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) AGGCGTTCCTGAGGGGGTCCG 0.627 NaN 0 0 0 0.007291 0 28 83 TRIM67 440730 broad.mit.edu 37 1 231342533 231342533 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:231342533G>A uc009xfn.1 + 7 1858 c.1816G>A c.(1816-1818)GAT>AAT p.D606N NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 606 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GCAGACATCCGATGGTGAGCA 0.502 NaN 0 0 0 0.00499 0 15 35 CNST 163882 broad.mit.edu 37 1 246810471 246810471 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:246810471G>T uc001ibp.2 + 9 1346 c.968G>T c.(967-969)AGT>ATT p.S323I CNST_uc001ibo.3_Missense_Mutation_p.S323I NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 323 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 ACAGAGTCAAGTAAAGAAAGC 0.428 NaN OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.5548e-18 0.005443 2.03561e-18 24 85 OR2G2 81470 broad.mit.edu 37 1 247752379 247752379 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:247752379G>A uc010pyy.1 + 1 718 c.718G>A c.(718-720)GCA>ACA p.A240T NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAGACAGAAAGCATTCGGGAC 0.393 NaN 0 0 0 0.00632 0 28 93 OR2G3 81469 broad.mit.edu 37 1 247769738 247769738 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:247769738C>T uc010pyz.1 + 1 851 c.851C>T c.(850-852)ACT>ATT p.T284I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGACCCCCACTTTAAATCCT 0.433 NaN 0 0 0 0.005443 0 26 98 OR11L1 391189 broad.mit.edu 37 1 248004726 248004726 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:248004726A>T uc001idn.1 - 1 473 c.473T>A c.(472-474)CTG>CAG p.L158Q NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 158 Helical; Name=4; (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) CAGGGAAGGCAGAAAGCCTGT 0.577 NaN 0 0 0 0.002836 0 33 103 TRIM58 25893 broad.mit.edu 37 1 248020677 248020677 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:248020677C>T uc001ido.2 + 1 177 c.129C>T c.(127-129)TTC>TTT p.F43F NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 43 RING-type. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTCCGAGTTCTGCGAGAAGT 0.711 NaN 0 0 0 0.00308 0 6 14 VIM 7431 broad.mit.edu 37 10 17275816 17275816 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:17275816C>T uc001iou.2 + 5 1181 c.768C>T c.(766-768)ATC>ATT p.I256I VIM_uc001iov.1_Silent_p.I256I|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.I256I|VIM_uc001ioy.1_Silent_p.I256I|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.I256I|VIM_uc001ipc.1_Silent_p.I256I NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 256 Rod.|Linker 12. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 ATGTCCAAATCGATGTGGATG 0.537 NaN 0 0 0 0.00361 0 64 91 SLC39A12 221074 broad.mit.edu 37 10 18242459 18242459 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:18242459G>A uc001ipo.2 + 2 527 c.254G>A c.(253-255)TGC>TAC p.C85Y SLC39A12_uc001ipn.2_Missense_Mutation_p.C85Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.C85Y|SLC39A12_uc010qck.1_Intron NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 85 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 CAAGGAGATTGCAATCTGGTT 0.453 NaN 0 0 0 0.00632 0 29 63 YME1L1 10730 broad.mit.edu 37 10 27415685 27415685 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:27415685C>A uc001iti.2 - 10 1242 c.1060G>T c.(1060-1062)GTT>TTT p.V354F YME1L1_uc001itj.2_Missense_Mutation_p.V297F|YME1L1_uc010qdl.1_Missense_Mutation_p.V264F|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 354 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 AATTCAACAACTTCCTGTAAT 0.318 NaN 1 0 8.12818e-05 0.001984 9.90901e-05 7 45 GPRIN2 9721 broad.mit.edu 37 10 46999257 46999257 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:46999257G>A uc001jec.2 + 3 512 c.377G>A c.(376-378)CGT>CAT p.R126H GPRIN2_uc010qfq.1_5'Flank NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 126 0 GACCTGGTCCGTAGCACCCAG 0.642 NaN 0 0 0 0.00308 0 8 55 C10orf53 282966 broad.mit.edu 37 10 50916482 50916482 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:50916482G>C uc001jid.1 + 3 353 c.293G>C c.(292-294)TGT>TCT p.C98S NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform a Error:Variant_position_missing_in_Q8N6V4_after_alignment 0 all_neural(218;0.107) agcagcccgtgtaggatgaaa 0 NaN 0 0 0 0.00361 0 65 151 HK1 3098 broad.mit.edu 37 10 71129055 71129055 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:71129055C>T uc001jpl.3 + 6 755 c.654C>T c.(652-654)GGC>GGT p.G218G HK1_uc001jpg.3_Silent_p.G206G|HK1_uc001jph.3_Silent_p.G222G|HK1_uc001jpi.3_Silent_p.G222G|HK1_uc001jpj.3_Silent_p.G253G|HK1_uc001jpk.3_Silent_p.G217G|HK1_uc009xqd.2_Silent_p.G96G NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 218 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TGACCTGTGGCTATGACGACC 0.537 NaN 0 0 0 0.002299 0 18 58 CAMK2G 818 broad.mit.edu 37 10 75609037 75609037 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:75609037G>A uc001jvv.1 - 6 496 c.372C>T c.(370-372)ATC>ATT p.I124I CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 132 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) CCCTGTGGACGATGTCATGCT 0.522 NaN OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000978 0 11 40 PIK3AP1 118788 broad.mit.edu 37 10 98380234 98380234 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:98380234G>A uc001kmq.2 - 12 1944 c.1816C>T c.(1816-1818)CGG>TGG p.R606W PIK3AP1_uc001kmo.2_Missense_Mutation_p.R205W|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R428W NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 606 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ATAAGCTGCCGCTGGCCTGGC 0.562 NaN 0 0 0 0.00361 0 54 77 CHUK 1147 broad.mit.edu 37 10 101953102 101953102 + Silent SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:101953102T>G uc001kqp.2 - 19 2116 c.2061A>C c.(2059-2061)TCA>TCC p.S687S NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 687 TS -> DL (in Ref. 7; AAC50713). 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) CATGTTCTGCTGAAGTCGGGG 0.473 NaN 0 0 0 0.00623 0 39 95 MGEA5 10724 broad.mit.edu 37 10 103558904 103558904 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:103558904C>T uc001ktv.2 - 9 1947 c.1504G>A c.(1504-1506)GAT>AAT p.D502N MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.D449N|MGEA5_uc009xws.2_Missense_Mutation_p.D449N|MGEA5_uc001ktw.2_Missense_Mutation_p.D502N|MGEA5_uc009xwt.2_Missense_Mutation_p.D265N NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 502 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) CTCTCTTTATCAGTGTCCATT 0.398 NaN 0 0 0 0.00361 0 96 287 NT5C2 22978 broad.mit.edu 37 10 104858711 104858711 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:104858711G>T uc001kwo.2 - 10 850 c.664C>A c.(664-666)CTT>ATT p.L222I NT5C2_uc010qqp.1_Missense_Mutation_p.L193I|NT5C2_uc001kwq.2_Missense_Mutation_p.L222I|NT5C2_uc001kwp.2_Missense_Mutation_p.L69I NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 222 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) TACTTCTCAAGATTTTCAACT 0.294 NaN 1 0 9.70103e-10 0.008291 1.21889e-09 9 27 PCGF6 84108 broad.mit.edu 37 10 105110683 105110683 + Silent SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:105110683A>C uc001kwt.2 - 1 209 c.141T>G c.(139-141)CCT>CCG p.P47P PCGF6_uc001kwu.2_Silent_p.P47P|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 isoform a 47 Pro-rich. negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1) 1 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) TCTCAGACAGAGGCGCCGGTC 0.522 NaN 0 0 0 0.000602 0 5 9 PNLIPRP3 119548 broad.mit.edu 37 10 118187433 118187433 + Translation_Start_Site SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:118187433G>A uc001lcl.3 + 1 10 c.-91G>A c.(-93--89)TTGTG>TTATG NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TTGCATCATTGTGAGGAAAAC 0.323 NaN 0 0 0 0.001984 0 6 31 TACC2 10579 broad.mit.edu 37 10 123844863 123844863 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:123844863G>A uc001lfv.2 + 4 3208 c.2848G>A c.(2848-2850)GAG>AAG p.E950K TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E950K|TACC2_uc010qtv.1_Missense_Mutation_p.E950K NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 950 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GAAGCGGCCAGAGGGAGCATG 0.522 NaN 0 0 0 0.007835 0 39 109 C11orf35 256329 broad.mit.edu 37 11 556086 556086 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:556086C>T uc001lpx.2 - 11 1350 c.1287G>A c.(1285-1287)AAG>AAA p.K429K uc001lpy.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 429 pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCGGCTTCTTGGCGCTGC 0.587 NaN 0 0 0 0.006214 0 10 10 MUC15 143662 broad.mit.edu 37 11 26586972 26586972 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:26586972G>A uc001mqx.2 - 2 700 c.434C>T c.(433-435)TCT>TTT p.S145F ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172F|MUC15_uc001mqy.2_Missense_Mutation_p.S172F NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 145 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTTTCTGAAGACAGAGCAGG 0.428 NaN 0 0 0 0.004289 0 35 92 LIN7C 55327 broad.mit.edu 37 11 27523109 27523109 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:27523109T>C uc001mrl.2 - 3 188 c.161A>G c.(160-162)TAT>TGT p.Y54C LIN7C_uc009yii.2_Intron NM_018362 NP_060832 Q9NUP9 LIN7C_HUMAN lin-7 homolog C 54 L27. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction 0 GACATGTTCATATACCTGTAA 0.348 NaN 0 0 0 0.003271 0 33 56 TCP11L1 55346 broad.mit.edu 37 11 33083105 33083105 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:33083105G>C uc001mud.2 + 7 1205 c.805G>C c.(805-807)GAA>CAA p.E269Q TCP11L1_uc009yju.2_Missense_Mutation_p.E84Q|TCP11L1_uc010rei.1_Missense_Mutation_p.E269Q|TCP11L1_uc001mue.2_Missense_Mutation_p.E269Q|TCP11L1_uc001muf.1_RNA NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 269 0 CCAGTGGCTGGAAGAAGCCTC 0.527 NaN 0 0 0 0.001523 0 21 38 CAPRIN1 4076 broad.mit.edu 37 11 34110948 34110948 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:34110948C>G uc001mvh.1 + 12 1427 c.1238C>G c.(1237-1239)TCT>TGT p.S413C CAPRIN1_uc001mvg.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S332C NM_005898 NP_005889 Q14444 CAPR1_HUMAN membrane component chromosome 11 surface marker 413 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) GCAGTTCATTCTGAATCTAGA 0.313 NaN 0 0 0 0.007291 0 26 49 ALX4 60529 broad.mit.edu 37 11 44331236 44331236 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:44331236C>T uc001myb.2 - 1 481 c.377G>A c.(376-378)CGA>CAA p.R126Q NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 126 hair follicle development 0 GCAGGCGCCTCGCTGCAAGTA 0.473 NaN 0 0 0 0.000602 0 5 15 LRP4 4038 broad.mit.edu 37 11 46895138 46895138 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:46895138T>C uc001ndn.3 - 29 4382 c.4236A>G c.(4234-4236)GCA>GCG p.A1412A uc001ndl.2_RNA NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1412 Extracellular (Potential).|LDL-receptor class B 16. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CGTTCAGGTCTGCTCGCCTTG 0.532 NaN 0 0 0 0.002522 0 42 94 DDB2 1643 broad.mit.edu 37 11 47237917 47237917 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:47237917T>C uc001neb.2 + 2 353 c.158T>C c.(157-159)CTC>CCC p.L53P DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L53P|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.L53P|DDB2_uc001nef.2_Missense_Mutation_p.L39P|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_5'Flank NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 53 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 TCAGACTGCCTCTGGGTGGGG 0.557 NaN Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.00361 0 50 148 OR5AS1 219447 broad.mit.edu 37 11 55798060 55798060 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:55798060C>T uc010riw.1 + 1 166 c.166C>T c.(166-168)CAA>TAA p.Q56* NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TTCAAGCCTTCAAATTCCCAT 0.343 NaN 0 0 0 0.004007 0 15 55 MS4A2 2206 broad.mit.edu 37 11 59863129 59863129 + Nonstop_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:59863129A>C uc001nop.2 + 7 837 c.735A>C c.(733-735)TAA>TAC p.*245Y NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 245 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) TTGATTTATAAGAATCACGTG 0.428 NaN 0 0 0 0.008291 0 10 30 ZP1 22917 broad.mit.edu 37 11 60636673 60636673 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:60636673C>T uc001nqd.2 + 2 272 c.252C>T c.(250-252)GTC>GTT p.V84V ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 84 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 ACCACTGGGTCACCTCCAGGC 0.587 NaN 0 0 0 0.002299 0 20 41 CD5 921 broad.mit.edu 37 11 60889102 60889102 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:60889102G>A uc009ynk.2 + 6 928 c.825G>A c.(823-825)CAG>CAA p.Q275Q NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 275 Extracellular (Potential). cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CCAAGGTGCAGAGCCGTCTGG 0.637 NaN 0 0 0 0.00499 0 17 73 CAPN1 823 broad.mit.edu 37 11 64977856 64977856 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:64977856G>A uc009yqd.1 + 20 2103 c.1992G>A c.(1990-1992)TCG>TCA p.S664S CAPN1_uc001odf.1_Silent_p.S664S|CAPN1_uc001odg.1_Silent_p.S664S|CAPN1_uc010roa.1_Silent_p.S405S NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 664 Domain IV. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CCCGCTACTCGGAGCCCGACC 0.592 NaN 0 0 0 0.001855 0 12 21 LRP5 4041 broad.mit.edu 37 11 68115341 68115341 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:68115341C>T uc001ont.2 + 2 193 c.118C>T c.(118-120)CGC>TGC p.R40C LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 40 Beta-propeller 1.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 ATTTGCCAACCGCCGGGACGT 0.632 NaN 0 0 0 0.003954 0 23 190 NUMA1 4926 broad.mit.edu 37 11 71724518 71724518 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:71724518G>A uc001orl.1 - 15 4203 c.4031C>T c.(4030-4032)TCC>TTC p.S1344F NUMA1_uc009ysw.1_Missense_Mutation_p.S907F|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.S1344F|NUMA1_uc001orn.2_Missense_Mutation_p.S907F|NUMA1_uc009ysx.1_Missense_Mutation_p.S1344F|NUMA1_uc001oro.1_Missense_Mutation_p.S1344F NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1344 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CTGCAGGGTGGAGAGGGCCTG 0.647 NaN T RARA APL 0 0 0 0.001368 0 12 125 INPPL1 3636 broad.mit.edu 37 11 71943351 71943351 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:71943351C>T uc001osf.2 + 14 1830 c.1683C>T c.(1681-1683)CAC>CAT p.H561H INPPL1_uc001osg.2_Silent_p.H319H NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 561 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 TGAATTGTCACCTCACCTCGG 0.552 NaN 0 0 0 0.000602 0 5 9 RSF1 51773 broad.mit.edu 37 11 77378038 77378038 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:77378038G>C uc001oyn.2 - 16 4370 c.4250C>G c.(4249-4251)GCA>GGA p.A1417G RSF1_uc001oym.2_Missense_Mutation_p.A1165G NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1417 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTCTTCTGGTGCTCCTGCCTC 0.478 NaN 0 0 0 0.00361 0 44 282 ODZ4 26011 broad.mit.edu 37 11 78369287 78369287 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:78369287C>G uc001ozl.3 - 34 8589 c.8126G>C c.(8125-8127)AGA>ACA p.R2709T ODZ4_uc001ozk.3_Missense_Mutation_p.R934T|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2709 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 TTCCCGCAGTCTCTGCTGCTC 0.667 NaN 0 0 0 0.001523 0 19 65 MRE11A 4361 broad.mit.edu 37 11 94201031 94201031 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:94201031C>A uc001peu.2 - 10 1235 c.1046G>T c.(1045-1047)CGG>CTG p.R349L MRE11A_uc001pev.2_Missense_Mutation_p.R349L|MRE11A_uc009ywj.2_Missense_Mutation_p.R352L|MIR548L_hsa-mir-548l|MI0006361_5'Flank NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 349 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) CAGACGTTCCCGTTCAGCATT 0.333 NaN Homologous_recombination Ataxia-Telangiectasia-Like_Disorder 1 0 1.32181e-22 0.007291 1.75715e-22 27 26 EXPH5 23086 broad.mit.edu 37 11 108464258 108464258 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:108464258C>T uc001pkk.2 - 1 117 c.6G>A c.(4-6)ACG>ACA p.T2T NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 2 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GAGGAACTTTCGTCATTTTCT 0.458 NaN 0 0 0 0.00499 0 17 38 HTR3B 9177 broad.mit.edu 37 11 113775663 113775663 + Nonsense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:113775663C>G uc001pok.2 + 1 75 c.8C>G c.(7-9)TCA>TGA p.S3* NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 3 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GGAATGTTGTCAAGTGTAATG 0.458 NaN 0 0 0 0.00499 0 14 32 GRIK4 2900 broad.mit.edu 37 11 120690613 120690613 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:120690613C>T uc001pxn.2 + 6 782 c.495C>T c.(493-495)ATC>ATT p.I165I GRIK4_uc009zav.1_Silent_p.I165I|GRIK4_uc009zaw.1_Silent_p.I165I|GRIK4_uc009zax.1_Silent_p.I165I NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 165 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CCTGCCTCATCTGTGCCAAAG 0.557 NaN 0 0 0 0.00361 0 88 150 HSPA8 3312 broad.mit.edu 37 11 122929535 122929535 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:122929535A>G uc001pyo.2 - 7 1405 c.1327T>C c.(1327-1329)TAT>CAT p.Y443H HSPA8_uc009zbc.2_Missense_Mutation_p.Y207H|HSPA8_uc001pyp.2_Missense_Mutation_p.Y443H|HSPA8_uc010rzu.1_Missense_Mutation_p.Y366H NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 443 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TCGCCTTCATAAACCTTGGTA 0.428 NaN 0 0 0 0.006122 0 18 34 OR6M1 390261 broad.mit.edu 37 11 123676311 123676311 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:123676311G>A uc010rzz.1 - 1 747 c.747C>T c.(745-747)CAC>CAT p.H249H NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TGTTGCTCCCGTGGGCAATGG 0.507 NaN 0 0 0 0.001368 0 13 28 IQSEC3 440073 broad.mit.edu 37 12 278230 278230 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:278230G>A uc001qhw.1 + 9 2120 c.2114G>A c.(2113-2115)GGA>GAA p.G705E IQSEC3_uc001qhu.1_Missense_Mutation_p.G705E NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1008 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAGCCCTGCGGAGCCCAGGGG 0.622 NaN 0 0 0 0.003214 0 44 104 RAD51AP1 10635 broad.mit.edu 37 12 4662181 4662181 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:4662181G>A uc001qmw.2 + 8 796 c.640G>A c.(640-642)GAG>AAG p.E214K RAD51AP1_uc001qmu.2_Missense_Mutation_p.E197K|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E160K|RAD51AP1_uc010sep.1_Missense_Mutation_p.E79K|RAD51AP1_uc010seq.1_Missense_Mutation_p.E79K|RAD51AP1_uc009zeg.2_RNA NM_001130862 NP_001124334 Q96B01 R51A1_HUMAN RAD51 associated protein 1 isoform a 214 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding 0 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TGATTTTTGTGAGAGTGAGGA 0.318 NaN 0 0 0 0.006122 0 17 53 VWF 7450 broad.mit.edu 37 12 6128469 6128469 + Missense_Mutation SNP A A G rs61750070 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:6128469A>G uc001qnn.1 - 28 4365 c.4115T>C c.(4114-4116)ATC>ACC p.I1372T VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1372 VWFA 1; binding site for platelet glycoprotein Ib. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGGGCGGTCGATCTTGCTGAA 0.612 NaN 0 0 0 0.003271 0 34 85 PLEKHG6 55200 broad.mit.edu 37 12 6436472 6436472 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:6436472G>T uc001qnr.2 + 15 1871 c.1723G>T c.(1723-1725)GAT>TAT p.D575Y PLEKHG6_uc010sew.1_Missense_Mutation_p.D575Y|PLEKHG6_uc010sex.1_Missense_Mutation_p.D543Y NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 575 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 AGAAGACACAGATGAAGATGC 0.552 NaN OREG0021622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.85841e-42 0.00361 5.24556e-42 54 159 ARHGDIB 397 broad.mit.edu 37 12 15100819 15100819 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:15100819T>C uc001rcq.1 - 4 434 c.330A>G c.(328-330)AAA>AAG p.K110K ARHGDIB_uc001rcp.1_RNA NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 110 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 TGAAGTGAATTTTGACTCTAT 0.343 NaN 0 0 0 0.008361 0 29 72 ITPR2 3709 broad.mit.edu 37 12 26810951 26810951 + Nonsense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:26810951G>A uc001rhg.2 - 17 2416 c.1999C>T c.(1999-2001)CAA>TAA p.Q667* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 667 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TACTTAGTTTGAATGAGAATG 0.348 NaN 0 0 0 0.00632 0 28 68 PUS7L 83448 broad.mit.edu 37 12 44148459 44148459 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:44148459A>T uc001rnq.3 - 2 1079 c.590T>A c.(589-591)GTA>GAA p.V197E PUS7L_uc001rnr.3_Missense_Mutation_p.V197E|PUS7L_uc001rns.3_Missense_Mutation_p.V197E|PUS7L_uc009zkb.2_Intron NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 197 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ATTTGGTTTTACAACAATTTC 0.323 NaN 0 0 0 0.007291 0 30 73 DDN 23109 broad.mit.edu 37 12 49392962 49392962 + Nonsense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:49392962C>A uc001rsv.1 - 1 127 c.109G>T c.(109-111)GAA>TAA p.E37* uc001rsw.2_Intron NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 37 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 GTCTTCACTTCTATCACCAAT 0.607 NaN 1 0 4.7546e-09 0.004007 5.94516e-09 16 30 KRT18 3875 broad.mit.edu 37 12 53345517 53345517 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:53345517T>G uc001sbe.2 + 6 894 c.825T>G c.(823-825)ATT>ATG p.I275M KRT18_uc009zmn.1_Missense_Mutation_p.I275M|KRT18_uc001sbf.1_Missense_Mutation_p.I102M|KRT18_uc001sbg.2_Missense_Mutation_p.I275M|KRT18_uc009zmo.2_Missense_Mutation_p.I275M|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 275 Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 TCCTGCAGATTGAGGAGAGCA 0.607 NaN 0 0 0 0.00308 0 8 38 PFDN5 5204 broad.mit.edu 37 12 53689715 53689715 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:53689715G>A uc001scl.2 + 2 282 c.165G>A c.(163-165)AAG>AAA p.K55K PFDN5_uc001scm.2_Intron|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA NM_002624 NP_002615 Q99471 PFD5_HUMAN prefoldin subunit 5 isoform alpha 55 'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent nucleus|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1) 1 TGCTGAACAAGAGCAACGAGG 0.517 NaN 0 0 0 0.001882 0 18 32 ATP5B 506 broad.mit.edu 37 12 57037667 57037667 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:57037667G>A uc001slr.2 - 4 666 c.561C>T c.(559-561)ATC>ATT p.I187I SNORD59B_uc001sls.1_5'Flank NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 187 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 CGACAACCTTGATACCAGTCA 0.428 NaN 0 0 0 0.001882 0 21 73 FAM119B 25895 broad.mit.edu 37 12 58174278 58174278 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:58174278A>G uc001sqg.2 + 3 655 c.530A>G c.(529-531)TAT>TGT p.Y177C FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank NM_015433 NP_056248 Q96AZ1 MT21B_HUMAN hypothetical protein LOC25895 isoform a 177 integral to membrane|intracellular methyltransferase activity 0 all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GGCACCATCTATCTGGCCTCC 0.582 NaN 0 0 0 0.00278 0 24 40 GNS 2799 broad.mit.edu 37 12 65116858 65116858 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:65116858G>T uc001ssg.3 - 11 1406 c.1236C>A c.(1234-1236)GTC>GTA p.V412V GNS_uc001ssf.2_Silent_p.V356V|GNS_uc010ssq.1_Silent_p.V444V|GNS_uc010ssr.1_Silent_p.V392V NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 412 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) ATTCCACCAGGACATCTGATC 0.453 NaN 1 0 9.8876e-21 0.004878 1.30771e-20 33 82 PPP1R12A 4659 broad.mit.edu 37 12 80202350 80202350 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:80202350T>C uc001syz.2 - 11 1730 c.1463A>G c.(1462-1464)GAT>GGT p.D488G PPP1R12A_uc010suc.1_Missense_Mutation_p.D401G|PPP1R12A_uc001sza.2_Missense_Mutation_p.D488G|PPP1R12A_uc010sud.1_Missense_Mutation_p.D488G|PPP1R12A_uc001szb.2_Missense_Mutation_p.D488G|PPP1R12A_uc001szc.2_Missense_Mutation_p.D488G NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 488 contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 TCCTTTACTATCTTTCTCCTA 0.323 NaN 0 0 0 0.002852 0 42 135 APAF1 317 broad.mit.edu 37 12 99120994 99120994 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:99120994C>T uc001tfz.2 + 26 4077 c.3500C>T c.(3499-3501)CCG>CTG p.P1167L APAF1_uc001tfy.2_Missense_Mutation_p.P1156L|APAF1_uc001tga.2_Missense_Mutation_p.P1113L|APAF1_uc001tgb.2_Missense_Mutation_p.P1124L|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.P491L NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 1167 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TTGTGTGCTCCGCTTTCAGAA 0.423 NaN 0 0 0 0.004656 0 28 138 ANKS1B 56899 broad.mit.edu 37 12 100377915 100377915 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:100377915C>T uc001tge.1 - 1 518 c.101G>A c.(100-102)GGA>GAA p.G34E ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G34E NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 34 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GGGTCCGGATCCACCGCCCAG 0.582 NaN 0 0 0 0.00333 0 23 78 ANKS1B 56899 broad.mit.edu 37 12 100378001 100378001 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:100378001C>T uc001tge.1 - 1 432 c.15G>A c.(13-15)CAG>CAA p.Q5Q ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.Q5Q NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 5 ANK 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCAGCAGCTCCTGGTCCTTCC 0.642 NaN 0 0 0 0.00245 0 13 47 C12orf48 55010 broad.mit.edu 37 12 102569339 102569339 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:102569339A>G uc001tjf.2 + 7 1012 c.900A>G c.(898-900)AAA>AAG p.K300K C12orf48_uc001tjg.2_Silent_p.K219K|C12orf48_uc010swa.1_Silent_p.K377K|C12orf48_uc001tjh.2_Silent_p.K219K|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.K15K|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 300 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 CTTTTTGCAAAGCAATAGAGG 0.388 NaN 0 0 0 0.00632 0 30 79 KIAA1033 23325 broad.mit.edu 37 12 105558026 105558026 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:105558026G>A uc001tld.2 + 31 3382 c.3295G>A c.(3295-3297)GAT>AAT p.D1099N KIAA1033_uc010swr.1_Missense_Mutation_p.D1100N|KIAA1033_uc010sws.1_Missense_Mutation_p.D911N NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 1099 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 AGCCAGTCAAGATGAAAAACT 0.428 NaN 0 0 0 0.002836 0 33 74 TCHP 84260 broad.mit.edu 37 12 110342545 110342545 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:110342545G>T uc001tpn.2 + 4 556 c.403G>T c.(403-405)GCT>TCT p.A135S TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.A135S NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 135 Glu-rich.|Potential.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 TTGATAGATTGCTGAACAACT 0.373 NaN 1 0 2.94398e-08 0.007413 3.66352e-08 18 48 TCHP 84260 broad.mit.edu 37 12 110345365 110345365 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:110345365A>T uc001tpn.2 + 6 713 c.560A>T c.(559-561)TAT>TTT p.Y187F TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.Y187F NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 187 Glu-rich.|Interaction with keratin proteins.|Potential. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 AACAAACGGTATGAAAATGAA 0.507 NaN 0 0 0 0.007291 0 28 83 IFT81 28981 broad.mit.edu 37 12 110643412 110643412 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:110643412C>G uc001tqi.2 + 17 1859 c.1729C>G c.(1729-1731)CAA>GAA p.Q577E IFT81_uc001tqh.2_Missense_Mutation_p.Q577E|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 577 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 CCTAGAAGTTCAACTTCGTCG 0.318 NaN 0 0 0 0.00361 0 64 192 C12orf24 29902 broad.mit.edu 37 12 110927913 110927913 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:110927913G>A uc001tqu.3 + 7 1242 c.793G>A c.(793-795)GAA>AAA p.E265K C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_RNA NM_013300 NP_037432 Q8WUB2 CL024_HUMAN hypothetical protein LOC29902 265 0 GTCAATTGAAGAACAGGGAGA 0.363 NaN 0 0 0 0.005524 0 36 105 BRAP 8315 broad.mit.edu 37 12 112097074 112097074 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:112097074C>T uc001tsn.3 - 8 1242 c.1048G>A c.(1048-1050)GAG>AAG p.E350K BRAP_uc010syh.1_Missense_Mutation_p.E171K|BRAP_uc009zvv.2_Missense_Mutation_p.E320K NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 350 UBP-type. MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 TGCGTTTCCTCAAAGTGCTTA 0.443 NaN 0 0 0 0.003271 0 33 108 RBM19 9904 broad.mit.edu 37 12 114358488 114358488 + Silent SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:114358488G>C uc009zwi.2 - 19 2457 c.2313C>G c.(2311-2313)CTC>CTG p.L771L RBM19_uc001tvn.3_Silent_p.L771L|RBM19_uc001tvm.2_Silent_p.L771L NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 771 RRM 5. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) CCATGGAAAGGAGCACTCCTG 0.507 NaN 0 0 0 0.00361 0 110 249 EP400 57634 broad.mit.edu 37 12 132547111 132547111 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:132547111G>A uc001ujn.2 + 46 8234 c.8199G>A c.(8197-8199)CAG>CAA p.Q2733Q EP400_uc001ujl.2_Silent_p.Q2732Q|EP400_uc001ujm.2_Silent_p.Q2652Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2769 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcagcagcagc 0.323 NaN 0 0 0 0.008291 0 10 72 EP400 57634 broad.mit.edu 37 12 132547117 132547117 + Silent SNP G G A rs151326088 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:132547117G>A uc001ujn.2 + 46 8240 c.8205G>A c.(8203-8205)CAG>CAA p.Q2735Q EP400_uc001ujl.2_Silent_p.Q2734Q|EP400_uc001ujm.2_Silent_p.Q2654Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2771 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcagcagcagc 0.323 NaN 0 0 0 0.004482 0 9 64 EP400 57634 broad.mit.edu 37 12 132547120 132547120 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:132547120G>A uc001ujn.2 + 46 8243 c.8208G>A c.(8206-8208)CAG>CAA p.Q2736Q EP400_uc001ujl.2_Silent_p.Q2735Q|EP400_uc001ujm.2_Silent_p.Q2655Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2772 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcagcagcagc 0.318 NaN 0 0 0 0.008291 0 11 65 GOLGA3 2802 broad.mit.edu 37 12 133381318 133381318 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr12:133381318G>A uc001ukz.1 - 7 2140 c.1581C>T c.(1579-1581)CTC>CTT p.L527L GOLGA3_uc001ula.1_Silent_p.L527L|GOLGA3_uc001ulb.2_Silent_p.L527L NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 527 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGTCCTTGCTGAGCATGCTCC 0.637 NaN 0 0 0 0.008361 0 28 68 SMAD9 4093 broad.mit.edu 37 13 37422860 37422860 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr13:37422860G>C uc001uvw.2 - 7 1700 c.1357C>G c.(1357-1359)CTG>GTG p.L453V SMAD9_uc001uvx.2_Missense_Mutation_p.L416V|SMAD9_uc010tep.1_Missense_Mutation_p.L246V NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 453 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) ATCTGAGTCAGAACTTTGTCC 0.507 NaN 0 0 0 0.00361 0 97 188 FREM2 341640 broad.mit.edu 37 13 39263139 39263139 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr13:39263139T>C uc001uwv.2 + 1 1967 c.1658T>C c.(1657-1659)TTA>TCA p.L553S NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 553 CSPG 3.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCCATCACCTTAGTGCCTGTG 0.582 NaN 0 0 0 0.001368 0 13 21 DIAPH3 81624 broad.mit.edu 37 13 60240843 60240843 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr13:60240843C>T uc001vht.2 - 28 3676 c.3457G>A c.(3457-3459)GAG>AAG p.E1153K DIAPH3_uc001vhs.2_RNA NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 1153 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TCCTTCTTCTCAGCTGCCTTG 0.413 NaN 0 0 0 0.002222 0 37 89 SLITRK6 84189 broad.mit.edu 37 13 86370509 86370509 + Silent SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr13:86370509T>G uc001vll.1 - 2 594 c.135A>C c.(133-135)CTA>CTC p.L45L SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 45 LRRNT 1.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CACAATTTATTAGCATTGTGC 0.408 NaN 0 0 0 0.002836 0 34 48 NALCN 259232 broad.mit.edu 37 13 101759884 101759884 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr13:101759884T>A uc001vox.1 - 22 2722 c.2533A>T c.(2533-2535)AGG>TGG p.R845W NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 845 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTCTGAACCTGTGTTCTCGC 0.502 NaN 0 0 0 0.005443 0 27 55 FAM155A 728215 broad.mit.edu 37 13 108518492 108518492 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr13:108518492G>A uc001vql.2 - 1 969 c.453C>T c.(451-453)GAC>GAT p.D151D NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 151 integral to membrane binding skin(1) 1 CCTTGCCCCGGTCGTCTTTGC 0.692 NaN 0 0 0 0.004007 0 16 26 OR4N2 390429 broad.mit.edu 37 14 20296468 20296468 + Nonsense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:20296468T>A uc010tkv.1 + 1 861 c.861T>A c.(859-861)TAT>TAA p.Y287* NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGTCATTTATACCCTTCGCA 0.418 NaN 0 0 0 0.008871 0 21 70 OR4K17 390436 broad.mit.edu 37 14 20586496 20586496 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:20586496C>T uc001vwo.1 + 1 931 c.931C>T c.(931-933)CCT>TCT p.P311S NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CATCATCACTCCTATCTTGAA 0.373 NaN 0 0 0 0.001855 0 12 38 TEP1 7011 broad.mit.edu 37 14 20848088 20848088 + Splice_Site SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:20848088C>A uc001vxe.2 - 35 5167 c.5127_splice c.e35+1 p.Q1709_splice TEP1_uc010ahk.2_Splice_Site_p.Q1052_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.Q1601_splice|TEP1_uc010tlh.1_Splice_Site_p.Q47_splice NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GATTGTCATACCTGCCAAGTT 0.507 NaN 1 0 0.00400662 0.004007 0.00485406 16 56 AP1G2 8906 broad.mit.edu 37 14 24034889 24034889 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:24034889T>C uc001wkl.2 - 7 1004 c.667A>G c.(667-669)ATC>GTC p.I223V AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.I151V|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.I223V|AP1G2_uc010aks.2_Missense_Mutation_p.I151V|AP1G2_uc010akt.2_Missense_Mutation_p.I151V|AP1G2_uc010tnq.1_RNA NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 223 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GTCCGGAGGATGTGTACCAGC 0.557 NaN 0 0 0 0.00245 0 13 52 ZFP36L1 677 broad.mit.edu 37 14 69256333 69256333 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 T G T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:69256333T>G uc001xkh.1 - 2 1064 c.934A>C c.(934-936)AGC>CGC p.S312R ZFP36L1_uc001xki.1_Missense_Mutation_p.S312R NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 312 Poly-Ser. regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCACTGTGGCTGCTGCTGGAG 0.597 NaN OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 47 172 DCAF5 8816 broad.mit.edu 37 14 69521082 69521082 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:69521082G>T uc001xkp.2 - 9 2540 c.2321C>A c.(2320-2322)CCT>CAT p.P774H DCAF5_uc001xkq.2_Missense_Mutation_p.P773H NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 774 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 GGTTTCAAAAGGGTGCTCTAC 0.597 NaN 1 0 2.47511e-08 0.008361 3.08497e-08 27 108 SLC8A3 6547 broad.mit.edu 37 14 70512799 70512799 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:70512799C>T uc001xly.2 - 8 3403 c.2649G>A c.(2647-2649)AGG>AGA p.R883R SLC8A3_uc001xlu.2_Silent_p.R240R|SLC8A3_uc001xlv.2_Silent_p.R254R|SLC8A3_uc001xlw.2_Silent_p.R880R|SLC8A3_uc001xlx.2_Silent_p.R881R|SLC8A3_uc001xlz.2_Silent_p.R877R|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 883 Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGTGCGGCCGCCTTCGGTACA 0.602 NaN OREG0022773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 9 35 BATF 10538 broad.mit.edu 37 14 75989032 75989032 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:75989032C>T uc001xrr.2 + 1 249 c.7C>T c.(7-9)CAC>TAC p.H3Y NM_006399 NP_006390 Q16520 BATF_HUMAN basic leucine zipper transcription factor, 3 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.028) AGCCATGCCTCACAGCTCCGA 0.592 NaN 0 0 0 0.002299 0 23 63 GALC 2581 broad.mit.edu 37 14 88459416 88459416 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:88459416C>T uc001xvt.2 - 1 492 c.93G>A c.(91-93)TTG>TTA p.L31L GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.L31L|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.L31L NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 31 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 CACACAGCAGCAAGGGCACCG 0.731 NaN 0 0 0 0.000602 0 4 9 CCDC88C 440193 broad.mit.edu 37 14 91792370 91792370 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:91792370C>T uc010aty.2 - 11 1180 c.1081G>A c.(1081-1083)GAA>AAA p.E361K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 361 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GCCTTGGTTTCAATTAAAATG 0.458 NaN 0 0 0 0.004482 0 8 23 ITPK1 3705 broad.mit.edu 37 14 93412799 93412799 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:93412799C>T uc001ybg.2 - 10 1067 c.778G>A c.(778-780)GAG>AAG p.E260K ITPK1_uc001ybe.2_Missense_Mutation_p.E260K|ITPK1_uc001ybf.2_Missense_Mutation_p.E141K|ITPK1_uc001ybh.2_Missense_Mutation_p.E260K NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 260 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CGGATGACCTCGTCGCTCGGC 0.632 NaN 0 0 0 0.001882 0 20 67 DDX24 57062 broad.mit.edu 37 14 94526714 94526714 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:94526714G>C uc001ycj.2 - 5 1742 c.1643C>G c.(1642-1644)CCC>CGC p.P548R DDX24_uc010twq.1_Missense_Mutation_p.P505R|DDX24_uc010twr.1_Missense_Mutation_p.P298R NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 548 RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) AATGACCTTGGGCTTGCCCCT 0.468 NaN 0 0 0 0.00361 0 52 138 PPP4R4 57718 broad.mit.edu 37 14 94674875 94674875 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:94674875C>T uc001ycs.1 + 3 420 c.266C>T c.(265-267)ACG>ATG p.T89M PPP4R4_uc001ycr.2_Missense_Mutation_p.T89M NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 89 cytoplasm|protein serine/threonine phosphatase complex protein binding p.T89M(1) skin(3)|upper_aerodigestive_tract(1) 4 CCCACTGAGACGCTTCGGAGA 0.388 NaN 0 0 0 0.00499 0 16 46 DYNC1H1 1778 broad.mit.edu 37 14 102452341 102452341 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:102452341C>T uc001yks.2 + 8 1943 c.1779C>T c.(1777-1779)GTC>GTT p.V593V NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 593 Interaction with DYNC1I2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CACTGTTTGTCAGGCCTCACA 0.527 NaN 0 0 0 0.008361 0 30 55 DYNC1H1 1778 broad.mit.edu 37 14 102493553 102493553 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:102493553T>C uc001yks.2 + 45 8978 c.8814T>C c.(8812-8814)GTT>GTC p.V2938V NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2938 AAA 4 (By similarity).|ATP (Potential). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGATTGGTGTTAGTGGAGCAG 0.463 NaN 0 0 0 0.00361 0 116 313 AHNAK2 113146 broad.mit.edu 37 14 105419725 105419725 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:105419725G>A uc010axc.1 - 7 2183 c.2063C>T c.(2062-2064)TCA>TTA p.S688L AHNAK2_uc001ypx.2_Missense_Mutation_p.S588L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 688 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCTGGGGCTGACGCCCCGAA 0.542 NaN 0 0 0 0.00361 0 78 232 NDN 4692 broad.mit.edu 37 15 23931699 23931699 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:23931699C>T uc001ywk.2 - 1 752 c.666G>A c.(664-666)TGG>TGA p.W222* NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 222 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGTGCTTCTTCCAGGGCCGCA 0.622 NaN Prader-Willi_syndrome 0 0 0 0.004007 0 17 45 GABRG3 2567 broad.mit.edu 37 15 27765177 27765177 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:27765177A>T uc001zbg.1 + 7 938 c.772A>T c.(772-774)ATT>TTT p.I258F NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 258 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ATACTTCACCATTCAGACATA 0.353 NaN 0 0 0 0.001168 0 6 9 MTMR10 54893 broad.mit.edu 37 15 31239408 31239408 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:31239408C>T uc001zfh.1 - 14 1571 c.1473G>A c.(1471-1473)TTG>TTA p.L491L MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Silent_p.L72L|MTMR10_uc010azx.1_Silent_p.L243L|MTMR10_uc001zfi.1_Silent_p.L243L|MTMR10_uc001zfj.2_Silent_p.L409L|MTMR10_uc001zfk.2_Silent_p.L243L NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 491 Myotubularin phosphatase. phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) TGCTGTCATACAACACTGCCA 0.507 NaN 0 0 0 0.007835 0 38 115 AQR 9716 broad.mit.edu 37 15 35212624 35212624 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:35212624A>C uc001ziv.2 - 14 1311 c.1130T>G c.(1129-1131)CTC>CGC p.L377R NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 377 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CACCTGGTGGAGTGTGTTTGA 0.318 NaN 0 0 0 0.000978 0 9 28 C15orf52 388115 broad.mit.edu 37 15 40627555 40627555 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:40627555A>G uc001zlh.3 - 11 1425 c.1409T>C c.(1408-1410)CTG>CCG p.L470P C15orf52_uc010ucn.1_Missense_Mutation_p.L260P NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 470 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) CTGTACTTCCAGCTCAGCCTG 0.662 NaN 0 0 0 0.004289 0 32 67 FAM82A2 55177 broad.mit.edu 37 15 41037420 41037420 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:41037420C>T uc001zmo.1 - 5 706 c.562G>A c.(562-564)GAC>AAC p.D188N FAM82A2_uc001zmp.1_Missense_Mutation_p.D188N|FAM82A2_uc001zmq.1_Missense_Mutation_p.D188N NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 188 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 TTGTCAGAGTCCCGCTCATTG 0.498 NaN 0 0 0 0.00361 0 85 106 INO80 54617 broad.mit.edu 37 15 41280022 41280022 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:41280022T>G uc001zni.2 - 30 3934 c.3721A>C c.(3721-3723)AAG>CAG p.K1241Q INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1241 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 ACCTCACTCTTCTCCTTGGCT 0.468 NaN 0 0 0 0.00361 0 105 346 INO80 54617 broad.mit.edu 37 15 41280032 41280032 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:41280032T>C uc001zni.2 - 30 3924 c.3711A>G c.(3709-3711)AGA>AGG p.R1237R INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1237 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TCTCCTTGGCTCTTTGCAGAA 0.478 NaN 0 0 0 0.00361 0 103 330 SPTBN5 51332 broad.mit.edu 37 15 42168429 42168429 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:42168429C>T uc001zos.2 - 21 4233 c.3900G>A c.(3898-3900)CTG>CTA p.L1300L NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1335 Spectrin 10. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCGCAGCCATCAGCCCCTTCT 0.627 NaN 0 0 0 0.000978 0 11 25 SPTBN5 51332 broad.mit.edu 37 15 42170747 42170747 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:42170747T>A uc001zos.2 - 17 3491 c.3158A>T c.(3157-3159)CAG>CTG p.Q1053L NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1088 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CACTTGTTCCTGTACTTGCTT 0.642 NaN 0 0 0 0.008291 0 10 33 TGM5 9333 broad.mit.edu 37 15 43531079 43531079 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:43531079G>A uc001zrd.1 - 9 1289 c.1281C>T c.(1279-1281)ATC>ATT p.I427I TGM5_uc001zrc.1_Silent_p.I84I|TGM5_uc001zre.1_Silent_p.I345I NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 427 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TCTTTGTGCTGATAAAATTGC 0.507 NaN 0 0 0 0.00499 0 17 33 SLC12A1 6557 broad.mit.edu 37 15 48559784 48559784 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:48559784G>T uc001zwn.3 + 18 2397 c.2181G>T c.(2179-2181)GAG>GAT p.E727D SLC12A1_uc010uew.1_Missense_Mutation_p.E533D|SLC12A1_uc010bem.2_Missense_Mutation_p.E727D|SLC12A1_uc001zwq.3_Missense_Mutation_p.E498D|SLC12A1_uc001zwr.3_Missense_Mutation_p.E454D NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 727 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GTGTTAAGGAGATGAACAGTG 0.433 NaN 1 0 6.12954e-19 0.004656 8.07937e-19 26 64 APH1B 83464 broad.mit.edu 37 15 63579740 63579740 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:63579740A>G uc002ama.2 + 4 547 c.473A>G c.(472-474)TAT>TGT p.Y158C APH1B_uc002amb.2_Intron|APH1B_uc010bgq.2_Missense_Mutation_p.Y104C|APH1B_uc010bgr.2_Missense_Mutation_p.Y104C NM_031301 NP_112591 Q8WW43 APH1B_HUMAN presenilin stabilization factor-like isoform 1 158 Helical; Name=5; (Potential). apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing integral to membrane|plasma membrane|transport vesicle peptidase activity|protein binding 0 TTCTTCCTTTATTCAGGTATG 0.423 NaN 0 0 0 0.00361 0 85 188 CSNK1G1 53944 broad.mit.edu 37 15 64592686 64592686 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:64592686T>C uc002anf.2 - 2 493 c.13A>G c.(13-15)AGT>GGT p.S5G CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anh.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anj.2_5'UTR|CSNK1G1_uc010uip.1_RNA NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 5 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 TTTTCCCTACTAGGATGGTCC 0.448 NaN 0 0 0 0.00361 0 51 148 HCN4 10021 broad.mit.edu 37 15 73616530 73616530 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:73616530G>T uc002avp.2 - 7 3037 c.2043C>A c.(2041-2043)CTC>CTA p.L681L NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 681 Cytoplasmic (Potential).|cAMP. blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) TCAGCGAGTAGAGGCGGCAGT 0.642 NaN 1 0 1.77063e-15 0.005443 2.29123e-15 27 65 FBXO22 26263 broad.mit.edu 37 15 76222340 76222340 + Silent SNP C C T rs143480986 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:76222340C>T uc002bbk.2 + 6 849 c.744C>T c.(742-744)ATC>ATT p.I248I FBXO22_uc002bbj.1_Silent_p.I248I|FBXO22_uc002bbl.2_Silent_p.I144I NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 248 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 ATATGAATATCATCTTGGCTG 0.438 NaN 0 0 0 0.002836 0 34 97 IREB2 3658 broad.mit.edu 37 15 78758655 78758655 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:78758655G>A uc002bdr.2 + 5 615 c.453G>A c.(451-453)CAG>CAA p.Q151Q IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.Q151Q NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 151 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GTGACCTGCAGAAAGCAGGAA 0.458 NaN 0 0 0 0.001523 0 21 35 ADAMTS7 11173 broad.mit.edu 37 15 79090340 79090340 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:79090340C>G uc002bej.3 - 3 783 c.572G>C c.(571-573)AGG>ACG p.R191T ADAMTS7_uc010und.1_Missense_Mutation_p.R191T|ADAMTS7_uc002bek.1_Missense_Mutation_p.R191T NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 191 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CTGTGCCAGCCTCTCCGGGGC 0.647 NaN 0 0 0 0.001786 0 29 108 ADAMTSL3 57188 broad.mit.edu 37 15 84651522 84651522 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:84651522G>A uc002bjz.3 + 21 3366 c.3142G>A c.(3142-3144)GAC>AAC p.D1048N ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1048N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1048N NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1048 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TCTGGATGATGACCACATTAG 0.448 NaN 0 0 0 0.003954 0 23 77 ALPK3 57538 broad.mit.edu 37 15 85401501 85401501 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:85401501G>A uc002ble.2 + 6 4305 c.4138G>A c.(4138-4140)GGG>AGG p.G1380R NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1380 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCAGGAGACGGGGAGGCAAC 0.652 NaN 0 0 0 0.000248 0 4 11 AKAP13 11214 broad.mit.edu 37 15 86123759 86123759 + Silent SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:86123759A>T uc002blv.1 + 7 2630 c.2460A>T c.(2458-2460)ACA>ACT p.T820T AKAP13_uc002blt.1_Silent_p.T820T|AKAP13_uc002blu.1_Silent_p.T820T|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 820 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AACTACATACAGCTACAGATT 0.498 NaN 0 0 0 0.00361 0 76 184 WDR93 56964 broad.mit.edu 37 15 90245001 90245001 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:90245001G>C uc002boj.2 + 2 125 c.24G>C c.(22-24)CAG>CAC p.Q8H WDR93_uc002bok.3_Missense_Mutation_p.Q8H|WDR93_uc010bnr.2_Missense_Mutation_p.Q8H NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 8 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) GAGGAAGTCAGACCCAGAAAA 0.463 NaN 0 0 0 0.00361 0 47 136 CRTC3 64784 broad.mit.edu 37 15 91172733 91172733 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:91172733C>A uc002bpp.2 + 11 1341 c.1235C>A c.(1234-1236)ACC>AAC p.T412N CRTC3_uc002bpo.2_Missense_Mutation_p.T412N NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 412 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTGTCTTCAACCAGCCCACTG 0.567 NaN T MAML2 salivary gland mucoepidermoid 1 0 9.42957e-07 0.007835 1.16228e-06 44 116 IGF1R 3480 broad.mit.edu 37 15 99459919 99459919 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:99459919A>C uc002bul.2 + 10 2065 c.2015A>C c.(2014-2016)AAG>ACG p.K672T IGF1R_uc010urq.1_Missense_Mutation_p.K672T|IGF1R_uc010bon.2_Missense_Mutation_p.K672T|IGF1R_uc010urr.1_Missense_Mutation_p.K122T NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 672 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CCCATCAGGAAGTATGCCGAC 0.488 NaN 0 0 0 0.001523 0 19 47 ADAMTS17 170691 broad.mit.edu 37 15 100821443 100821443 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:100821443G>A uc002bvv.1 - 4 859 c.780C>T c.(778-780)GTC>GTT p.V260V ADAMTS17_uc002bvx.1_Silent_p.V17V NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 260 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCATGTTCATGACGGTCAGGA 0.622 NaN 0 0 0 0.002096 0 31 119 PCSK6 5046 broad.mit.edu 37 15 101906500 101906500 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:101906500C>T uc002bwy.2 - 14 2073 c.1759G>A c.(1759-1761)GAA>AAA p.E587K PCSK6_uc010bpd.2_Missense_Mutation_p.E383K|PCSK6_uc010bpe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxa.2_Missense_Mutation_p.E587K|PCSK6_uc002bxb.2_Missense_Mutation_p.E587K|PCSK6_uc002bxc.1_Missense_Mutation_p.E587K|PCSK6_uc002bxd.1_Missense_Mutation_p.E587K|PCSK6_uc002bxe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxf.1_Missense_Mutation_p.E87K NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 587 Homo B/P. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCATGAATTCCCAGTTTGTA 0.542 NaN 0 0 0 0.001984 0 7 61 CCDC78 124093 broad.mit.edu 37 16 775278 775278 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:775278T>C uc002cjg.2 - 5 557 c.451A>G c.(451-453)ACC>GCC p.T151A CCDC78_uc002cjf.2_5'UTR|CCDC78_uc002cji.3_Missense_Mutation_p.T225A|CCDC78_uc002cjj.3_Missense_Mutation_p.T95A|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.T151A|CCDC78_uc002cjk.2_Missense_Mutation_p.T140A|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 151 central_nervous_system(1) 1 Hepatocellular(780;0.0218) GGGTTCATGGTGTTCTTGGGC 0.632 NaN 0 0 0 0.00361 0 61 90 RPUSD1 113000 broad.mit.edu 37 16 836923 836923 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:836923C>T uc002cka.2 - 4 649 c.415G>A c.(415-417)GAG>AAG p.E139K RPUSD1_uc002ckb.2_Missense_Mutation_p.E139K|RPUSD1_uc002ckc.2_Missense_Mutation_p.E10K|RPUSD1_uc002ckd.2_Silent_p.V104V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 139 pseudouridine synthesis pseudouridine synthase activity|RNA binding 0 Hepatocellular(780;0.00335) TTTGGGTTCTCACAACCTGGG 0.647 NaN 0 0 0 0.002299 0 21 85 BAIAP3 8938 broad.mit.edu 37 16 1395092 1395092 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:1395092C>G uc002clk.1 + 21 2037 c.2037C>G c.(2035-2037)ATC>ATG p.I679M BAIAP3_uc002clj.2_Missense_Mutation_p.I661M|BAIAP3_uc010uuz.1_Missense_Mutation_p.I644M|BAIAP3_uc010uva.1_Missense_Mutation_p.I616M|BAIAP3_uc010uvc.1_Missense_Mutation_p.I608M NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 679 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) GGGATAGCATCCCTGGCCGGT 0.647 NaN 0 0 0 0.006999 0 41 111 SRRM2 23524 broad.mit.edu 37 16 2808993 2808993 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:2808993G>A uc002crk.2 + 6 1150 c.601G>A c.(601-603)GAG>AAG p.E201K SRRM2_uc002crj.1_Missense_Mutation_p.E105K|SRRM2_uc002crl.1_Missense_Mutation_p.E201K|SRRM2_uc010bsu.1_Missense_Mutation_p.E105K NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 201 Sufficient for RNA-binding.|Lys-rich.|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 TAGCAGGTCAGAGAGCAGCTC 0.453 NaN 0 0 0 0.006122 0 18 35 OR1F1 4992 broad.mit.edu 37 16 3254779 3254779 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:3254779T>C uc010uwu.1 + 1 533 c.533T>C c.(532-534)TTC>TCC p.F178S NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTCACTTCTTCTGCGATGTG 0.507 NaN 0 0 0 0.006999 0 41 110 NAGPA 51172 broad.mit.edu 37 16 5083318 5083318 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:5083318C>T uc002cyg.2 - 2 519 c.498G>A c.(496-498)CAG>CAA p.Q166Q ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_Silent_p.Q24Q|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Silent_p.Q24Q|NAGPA_uc010uxx.1_Intron NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 166 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) ACTGCGCGTTCTGCAGCCCCC 0.697 NaN 0 0 0 0.003163 0 14 22 ALG1 56052 broad.mit.edu 37 16 5123184 5123184 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:5123184A>T uc002cym.2 + 3 358 c.317A>T c.(316-318)AAA>ATA p.K106I ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.K106I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 106 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) TACGGAGTCAAAGTTGTACTT 0.507 NaN 0 0 0 0.00499 0 16 72 GRIN2A 2903 broad.mit.edu 37 16 9857968 9857968 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:9857968C>T uc002czo.3 - 13 3981 c.3433G>A c.(3433-3435)GTG>ATG p.V1145M GRIN2A_uc010uym.1_Missense_Mutation_p.V1145M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V988M|GRIN2A_uc002czr.3_Missense_Mutation_p.V1145M NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1145 Cytoplasmic (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) GGGAAGTCCACGTTCTCGGGC 0.537 NaN 0 0 0 0.00361 0 48 168 SMG1 23049 broad.mit.edu 37 16 18864945 18864945 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:18864945C>T uc002dfm.2 - 31 5091 c.4728G>A c.(4726-4728)ACG>ACA p.T1576T SMG1_uc010bwb.2_Silent_p.T1436T|SMG1_uc010bwa.2_Silent_p.T307T NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1576 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CTTCTTCCATCGTATTAACAG 0.348 NaN 0 0 0 0.001984 0 7 25 CP110 9738 broad.mit.edu 37 16 19539318 19539318 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:19539318C>T uc002dgl.3 + 2 362 c.115C>T c.(115-117)CAT>TAT p.H39Y CP110_uc002dgk.3_Missense_Mutation_p.H39Y O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 39 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 TATTCGCTTTCATGGAGTGGC 0.333 NaN 0 0 0 0.003755 0 30 78 C16orf62 57020 broad.mit.edu 37 16 19656273 19656273 + Splice_Site SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:19656273T>C uc002dgn.1 + 23 1941 c.1929_splice c.e23+2 p.M643_splice C16orf62_uc002dgo.1_Splice_Site_p.M576_splice|C16orf62_uc002dgp.1_Splice_Site_p.M392_splice NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 integral to membrane ovary(1) 1 ATAAAAATGGTAAGTATTAGG 0.338 NaN 0 0 0 0.006122 0 16 51 PDILT 204474 broad.mit.edu 37 16 20410448 20410448 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:20410448G>T uc002dhc.1 - 2 398 c.175C>A c.(175-177)CAG>AAG p.Q59K NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 59 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 AAGCGGGTCTGGTTCAGCATC 0.587 NaN 1 0 9.39395e-14 0.00632 1.21358e-13 27 77 DNAH3 55567 broad.mit.edu 37 16 20975839 20975839 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:20975839T>C uc010vbe.1 - 53 9367 c.9367A>G c.(9367-9369)ACC>GCC p.T3123A DNAH3_uc010vbd.1_Missense_Mutation_p.T558A NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3123 AAA 5 (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) AAGACAGGGGTGCCTAACTGC 0.438 NaN 0 0 0 0.00361 0 62 197 GTF3C1 2975 broad.mit.edu 37 16 27472877 27472877 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:27472877C>T uc002dov.1 - 37 6164 c.6124G>A c.(6124-6126)GAG>AAG p.E2042K GTF3C1_uc002dou.2_Missense_Mutation_p.E2017K NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 2042 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CCGAGGGACTCCAGGCCCTGG 0.493 NaN 0 0 0 0.004656 0 23 55 SH2B1 25970 broad.mit.edu 37 16 28883959 28883959 + Silent SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:28883959T>A uc002dri.2 + 10 2269 c.1830T>A c.(1828-1830)CCT>CCA p.P610P uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P300P|SH2B1_uc002drj.2_Silent_p.P610P|SH2B1_uc002drk.2_Silent_p.P610P|SH2B1_uc002drl.2_Silent_p.P610P|SH2B1_uc010vdd.1_Silent_p.P274P|SH2B1_uc010vde.1_Silent_p.P610P|SH2B1_uc002drm.2_Silent_p.P610P NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 610 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 ACCCCATCCCTTTGGAGTCGG 0.602 NaN 0 0 0 0.002222 0 42 90 ATP2A1 487 broad.mit.edu 37 16 28914209 28914209 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:28914209C>T uc002dro.1 + 19 2905 c.2721C>T c.(2719-2721)ATC>ATT p.I907I uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.I907I|ATP2A1_uc002drp.1_Silent_p.I782I NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 907 Helical; Name=8; (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 TGGTGACCATCGAGATGTGCA 0.637 NaN 0 0 0 0.003163 0 16 30 NFATC2IP 84901 broad.mit.edu 37 16 28963486 28963486 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:28963486C>G uc002dru.2 + 2 436 c.421C>G c.(421-423)CTA>GTA p.L141V uc010vct.1_Intron|NFATC2IP_uc002drt.2_Translation_Start_Site|NFATC2IP_uc010vdg.1_Missense_Mutation_p.L141V NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 141 cytoplasm|nucleus ovary(1) 1 CCCAGATGATCTATCCCTCCT 0.542 NaN 0 0 0 0.00361 0 48 106 TAOK2 9344 broad.mit.edu 37 16 29994162 29994162 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:29994162G>A uc002dva.1 + 11 1722 c.939G>A c.(937-939)AAG>AAA p.K313K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.K313K|TAOK2_uc002dvc.1_Silent_p.K313K|TAOK2_uc010bzm.1_Silent_p.K313K|TAOK2_uc002dvd.1_Silent_p.K140K NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 313 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GCAAGATGAAGAAGATCCTGT 0.602 NaN 0 0 0 0.004289 0 36 97 PRSS36 146547 broad.mit.edu 37 16 31157215 31157215 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:31157215G>A uc002ebd.2 - 6 674 c.615C>T c.(613-615)ACC>ACT p.T205T PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Silent_p.T205T|PRSS36_uc010vfh.1_Silent_p.T205T NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 205 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GACATTGACAGGTGGCCTCGC 0.612 NaN 0 0 0 0.001855 0 14 41 ITGAM 3684 broad.mit.edu 37 16 31288291 31288291 + Silent SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:31288291C>G uc002ebq.2 + 11 1232 c.1134C>G c.(1132-1134)GTC>GTG p.V378V ITGAM_uc002ebr.2_Silent_p.V378V|ITGAM_uc010cam.1_Silent_p.V29V NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 378 FG-GAP 3.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CTGGTGGAGTCTTTCTATATA 0.498 NaN 0 0 0 0.000978 0 12 18 COQ9 57017 broad.mit.edu 37 16 57492236 57492236 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:57492236C>G uc002elq.2 + 6 701 c.685C>G c.(685-687)CAT>GAT p.H229D COQ9_uc002elr.2_Missense_Mutation_p.H194D|COQ9_uc002els.2_Missense_Mutation_p.H22D NM_020312 NP_064708 O75208 COQ9_HUMAN coenzyme Q9 homolog precursor 229 ubiquinone biosynthetic process mitochondrion breast(1) 1 TGACATGTGGCATTACGCTGG 0.547 NaN 0 0 0 0.000602 0 4 7 POLR2C 5432 broad.mit.edu 37 16 57496641 57496641 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:57496641C>T uc002elt.1 + 1 91 c.5C>T c.(4-6)CCG>CTG p.P2L POLR2C_uc010vhq.1_Missense_Mutation_p.P2L NM_032940 NP_116558 P19387 RPB3_HUMAN DNA directed RNA polymerase II polypeptide C 2 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 GGCGAGATGCCGTACGCCAAC 0.652 NaN OREG0023826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 14 GPR114 221188 broad.mit.edu 37 16 57596033 57596033 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:57596033T>C uc002elx.3 + 2 113 c.28T>C c.(28-30)TGC>CGC p.C10R GPR114_uc010vhr.1_Missense_Mutation_p.C10R|GPR114_uc002ely.2_Missense_Mutation_p.C10R NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 10 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 CCTTTTCCTGTGCCTGTGCCT 0.552 NaN 0 0 0 0.004289 0 36 76 CNOT1 23019 broad.mit.edu 37 16 58621689 58621689 + Nonsense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:58621689G>A uc002env.2 - 4 597 c.304C>T c.(304-306)CAG>TAG p.Q102* CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q102*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q102*|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 102 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CCAACCTTCTGATAGTGCAAT 0.363 NaN 0 0 0 0.003954 0 24 57 KCTD19 146212 broad.mit.edu 37 16 67323569 67323569 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:67323569G>T uc002esu.2 - 16 2735 c.2684C>A c.(2683-2685)GCC>GAC p.A895D KCTD19_uc002est.2_Missense_Mutation_p.A667D|KCTD19_uc010vjj.1_Missense_Mutation_p.A638D NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 895 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ATATTTCCTGGCGAAGGGCAG 0.542 NaN 1 0 0.000219431 0.00245 0.000266672 15 64 COG8 84342 broad.mit.edu 37 16 69370492 69370492 + Silent SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:69370492C>G uc002ewy.2 - 2 572 c.501G>C c.(499-501)CGG>CGC p.R167R COG8_uc002ewz.3_Silent_p.R167R NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 167 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 AATAACTGTTCCGGACACAGG 0.522 NaN 0 0 0 0.005443 0 28 62 DDX19B 11269 broad.mit.edu 37 16 70367484 70367484 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:70367484G>A uc002eyo.2 + 12 1568 c.1439G>A c.(1438-1440)TGA>TAA p.*480* DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.*454*|DDX19B_uc010vlw.1_Silent_p.*371*|DDX19B_uc002eyp.2_Silent_p.*449*|DDX19B_uc002eyq.2_Silent_p.*371*|DDX19B_uc002eyr.2_Silent_p.*329*|DDX19B_uc010vlx.1_Silent_p.*329*|uc002eyt.2_Intron NM_007242 NP_009173 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform 480 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding kidney(1) 1 Ovarian(137;0.0694) ATAGCCAACTGAGAAGCTCCA 0.537 NaN 0 0 0 0.00361 0 130 162 FUK 197258 broad.mit.edu 37 16 70506488 70506488 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:70506488C>T uc002eyy.2 + 14 1444 c.1386C>T c.(1384-1386)TTC>TTT p.F462F FUK_uc010cft.2_Silent_p.F494F|FUK_uc002eyz.2_5'UTR NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 462 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GGAGTGAATTCTTCAAGAGGA 0.607 NaN 0 0 0 0.001984 0 6 17 COG4 25839 broad.mit.edu 37 16 70543163 70543163 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:70543163A>G uc002ezc.2 - 7 984 c.973T>C c.(973-975)TTC>CTC p.F325L COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.F325L|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 321 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TGCTTGATGAACTTGTCTACC 0.483 NaN 0 0 0 0.006214 0 9 298 ATP2C2 9914 broad.mit.edu 37 16 84444355 84444355 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:84444355C>T uc002fhx.2 + 6 588 c.499C>T c.(499-501)CCT>TCT p.P167S ATP2C2_uc010chj.2_Missense_Mutation_p.P167S|ATP2C2_uc002fhy.2_Missense_Mutation_p.P184S|ATP2C2_uc002fhz.2_Intron NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 167 Cytoplasmic (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 CAAGATGGTTCCTCCAGAATG 0.507 NaN 0 0 0 0.002299 0 23 73 TCF25 22980 broad.mit.edu 37 16 89962447 89962447 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr16:89962447C>T uc002fpb.2 + 9 1060 c.978C>T c.(976-978)CTC>CTT p.L326L TCF25_uc002fpc.2_Silent_p.L91L NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 326 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TGTTCAGTCTCACCAGTGGGG 0.632 NaN 0 0 0 0.00245 0 10 35 SGSM2 9905 broad.mit.edu 37 17 2264993 2264993 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:2264993G>C uc002fun.3 + 3 371 c.196G>C c.(196-198)GAC>CAC p.D66H SGSM2_uc002fum.3_Missense_Mutation_p.D66H|SGSM2_uc010vqw.1_Missense_Mutation_p.D66H NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 66 RUN. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CCTGCGCAGTGACAAGATGGC 0.607 NaN 0 0 0 0.00245 0 13 61 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 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) 0 0 0 0.00361 0 52 36 CYB5D1 124637 broad.mit.edu 37 17 7761743 7761743 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:7761743C>T uc002gjb.3 + 2 572 c.183C>T c.(181-183)ATC>ATT p.I61I LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.I61I NM_144607 NP_653208 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 61 Cytochrome b5 heme-binding. heme binding skin(1) 1 all_cancers(10;0.11)|Prostate(122;0.219) TGAAACCCATCGTGGAAGTTG 0.542 NaN OREG0024147 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00632 0 28 31 GAS7 8522 broad.mit.edu 37 17 10101629 10101629 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:10101629C>T uc002gmg.1 - 1 240 c.79G>A c.(79-81)GAG>AAG p.E27K NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 27 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 GTGATCAGCTCGCCCGCGGCG 0.721 NaN T MLL AML* 0 0 0 0.007413 0 18 56 TOP3A 7156 broad.mit.edu 37 17 18217940 18217940 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:18217940G>C uc002gsx.1 - 1 382 c.153C>G c.(151-153)GAC>GAG p.D51E SMCR8_uc002gsy.3_5'Flank|TOP3A_uc010vxs.1_5'UTR|TOP3A_uc010cqa.1_RNA NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 51 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 TTGACAGCAGGTCGGCGATCC 0.652 NaN 0 0 0 0.00499 0 14 41 CCDC144B 284047 broad.mit.edu 37 17 18513444 18513444 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:18513444C>T uc002gub.1 - 3 662 c.577G>A c.(577-579)GAC>AAC p.D193N CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D193N NM_182568 NP_872374 coiled-coil domain containing 144B ovary(1)|skin(1) 2 ACTCCAGTGTCCATTTTTTCT 0.418 NaN 0 0 0 0.00361 0 65 474 RNF112 7732 broad.mit.edu 37 17 19316617 19316617 + Silent SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:19316617A>C uc010vyw.1 + 5 812 c.613A>C c.(613-615)AGA>CGA p.R205R RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Silent_p.R205R|RNF112_uc010vyx.1_Silent_p.R88R NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 205 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 CGGCCGGCCAAGAGGAGGAGA 0.637 NaN 0 0 0 0.002299 0 22 50 SLC47A2 146802 broad.mit.edu 37 17 19618059 19618059 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:19618059G>A uc002gwe.3 - 3 444 c.269C>T c.(268-270)TCG>TTG p.S90L SLC47A2_uc002gwg.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwf.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 90 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GTCACATGCCGAAGACAAACC 0.567 NaN 0 0 0 0.00361 0 65 229 CYTSB 92521 broad.mit.edu 37 17 20108350 20108350 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:20108350G>C uc002gwq.2 + 4 1133 c.988G>C c.(988-990)GAC>CAC p.D330H CYTSB_uc010cqx.2_Missense_Mutation_p.D330H|CYTSB_uc002gwr.2_Missense_Mutation_p.D330H|CYTSB_uc002gws.2_Missense_Mutation_p.D330H|CYTSB_uc002gwv.2_Missense_Mutation_p.D249H|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D106H|CYTSB_uc002gwt.2_Missense_Mutation_p.D249H|CYTSB_uc002gwu.2_Missense_Mutation_p.D249H NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 330 Ser-rich. D -> N (in Ref. 5; AAH50058). nucleus 0 AGATGCTTCCGACTTTGAGCA 0.458 NaN 0 0 0 0.006214 0 7 239 SLC46A1 113235 broad.mit.edu 37 17 26732963 26732963 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:26732963T>G uc002hbf.1 - 1 266 c.170A>C c.(169-171)TAC>TCC p.Y57S SLC46A1_uc002hbg.1_Missense_Mutation_p.Y57S|SLC46A1_uc010wak.1_Missense_Mutation_p.Y57S NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 57 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GGTGCCATTGTAGCCGAGGTC 0.692 NaN 0 0 0 0.000248 0 3 17 TRAF4 9618 broad.mit.edu 37 17 27076071 27076071 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:27076071C>T uc002hcs.2 + 7 997 c.889C>T c.(889-891)CGA>TGA p.R297* TRAF4_uc002hcq.1_Intron NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 297 Potential. apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) GGAGCTTCGGCGAGAGCTGGA 0.617 NaN 0 0 0 0.003271 0 34 63 CCDC55 84081 broad.mit.edu 37 17 28506137 28506137 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:28506137A>G uc002heu.2 + 5 358 c.330A>G c.(328-330)GCA>GCG p.A110A CCDC55_uc002hev.2_Silent_p.A56A|CCDC55_uc010wbl.1_Silent_p.A56A|CCDC55_uc010wbm.1_Silent_p.A56A|CCDC55_uc002hex.2_Silent_p.A56A NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 110 Necessary for alternative splicing activity.|Potential. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 TGCTAAAAGCAGTTGAGATCA 0.274 NaN 0 0 0 0.006214 0 7 17 RHBDL3 162494 broad.mit.edu 37 17 30632423 30632423 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:30632423A>G uc002hhe.1 + 7 859 c.845A>G c.(844-846)TAT>TGT p.Y282C RHBDL3_uc010csw.1_Missense_Mutation_p.Y274C|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.Y184C|RHBDL3_uc002hhf.1_Missense_Mutation_p.Y184C NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 282 Helical; (Potential). proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) GGAGGGGTGTATGCTCTCGTC 0.567 NaN 0 0 0 0.004878 0 37 97 MMP28 79148 broad.mit.edu 37 17 34105915 34105915 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:34105915C>A uc002hjy.1 - 3 615 c.356G>T c.(355-357)CGT>CTT p.R119L MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.R119L NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 119 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCGTTTCTTACGCCTCATTTT 0.507 NaN 1 0 4.90274e-10 0.00623 6.17001e-10 37 104 CCL14 6358 broad.mit.edu 37 17 34310878 34310878 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:34310878T>C uc010wcr.1 - 3 320 c.241A>G c.(241-243)AAG>GAG p.K81E CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.K97E|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank NM_032963 NP_116739 Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 isoform 1 81 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGACCCACTTGTCACTGGGG 0.547 NaN 0 0 0 0.003271 0 32 102 CDC6 990 broad.mit.edu 37 17 38458227 38458227 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:38458227A>G uc002huj.1 + 12 1867 c.1657A>G c.(1657-1659)AAT>GAT p.N553D NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 553 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 TTTAATTGGAAATATCTTAGC 0.363 NaN 0 0 0 0.00361 0 48 131 TOP2A 7153 broad.mit.edu 37 17 38567656 38567656 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:38567656C>T uc002huq.2 - 9 1141 c.1015G>A c.(1015-1017)GAT>AAT p.D339N TOP2A_uc002hur.1_5'UTR NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 339 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTCACAACATCAACAAGTTTA 0.358 NaN 0 0 0 0.00361 0 58 287 KRTAP1-5 83895 broad.mit.edu 37 17 39183134 39183134 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:39183134C>T uc002hvu.2 - 1 321 c.274G>A c.(274-276)GGA>AGA p.G92R NM_031957 NP_114163 Q9BYS1 KRA15_HUMAN keratin associated protein 1.5 92 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament 0 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) CAGCCAGTTCCGCAGGAGCTG 0.627 NaN 0 0 0 0.001984 0 7 62 JUP 3728 broad.mit.edu 37 17 39925391 39925391 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:39925391C>T uc002hxq.2 - 4 814 c.537G>A c.(535-537)CTG>CTA p.L179L JUP_uc010wfs.1_Silent_p.L179L|JUP_uc002hxr.2_Silent_p.L179L|JUP_uc002hxs.2_Silent_p.L179L NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 179 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCGAGCCCATCAGGGCCCGCC 0.657 NaN 0 0 0 0.004007 0 16 42 ACLY 47 broad.mit.edu 37 17 40025748 40025748 + Silent SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:40025748T>A uc002hyg.2 - 26 3193 c.3030A>T c.(3028-3030)GTA>GTT p.V1010V ACLY_uc002hyh.2_Silent_p.V1000V|ACLY_uc002hyi.2_Silent_p.V1064V|ACLY_uc010wfx.1_Silent_p.V1054V|ACLY_uc010wfy.1_Silent_p.V739V NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 1010 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) TAATCTTCTCTACTTCCAGTG 0.438 NaN 0 0 0 0.00361 0 45 107 WNK4 65266 broad.mit.edu 37 17 40947024 40947024 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:40947024C>T uc002ibj.2 + 14 2606 c.2585C>T c.(2584-2586)CCA>CTA p.P862L WNK4_uc010wgx.1_Missense_Mutation_p.P526L|WNK4_uc002ibk.1_Missense_Mutation_p.P634L NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 862 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ACCAGCTCTCCACTTCCATTC 0.582 NaN 0 0 0 0.00361 0 51 121 C17orf57 124989 broad.mit.edu 37 17 45455230 45455230 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:45455230G>A uc002iln.2 + 13 1882 c.1471G>A c.(1471-1473)GAA>AAA p.E491K C17orf57_uc002ilm.2_Missense_Mutation_p.E395K|C17orf57_uc010daz.1_Missense_Mutation_p.E443K NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 491 EF-hand 1. calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TTTATTAGATGAAGAATTCCA 0.323 NaN 0 0 0 0.00278 0 22 71 SPATA20 64847 broad.mit.edu 37 17 48628506 48628506 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:48628506C>T uc002irf.2 + 11 1624 c.1483C>T c.(1483-1485)CGG>TGG p.R495W SPATA20_uc002irc.2_Missense_Mutation_p.R162W|SPATA20_uc002ire.2_Missense_Mutation_p.R451W|SPATA20_uc002ird.2_Missense_Mutation_p.R511W|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 495 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCGGAAGCATCGGCCCAAGCC 0.627 NaN OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 21 SFRS1 6426 broad.mit.edu 37 17 56082801 56082801 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:56082801G>A uc002ivi.2 - 4 922 c.713C>T c.(712-714)TCT>TTT p.S238F SFRS1_uc002ivj.2_3'UTR NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 238 Arg/Ser-rich (RS domain).|Interacts with SAFB1. Missing: In RS-C; loss of ability to activate splicing but retains splice site switching.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.|Missing: In RS-B; retains both splice activation and splice site switching activity. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) ATGACGGGGAGAATAGCGTGG 0.468 NaN 0 0 0 0.00361 0 57 178 CLTC 1213 broad.mit.edu 37 17 57763022 57763022 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:57763022A>C uc002ixq.1 + 30 5123 c.4680A>C c.(4678-4680)GAA>GAC p.E1560D CLTC_uc002ixp.2_Missense_Mutation_p.E1560D|CLTC_uc002ixr.1_Missense_Mutation_p.E1564D NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 1560 Heavy chain arm.|Proximal segment.|Trimerization (By similarity). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTTTGCAGGAAGAAAAAAGAG 0.398 NaN T ALK|TFE3 ALCL|renal 0 0 0 0.007835 0 38 110 CSHL1 1444 broad.mit.edu 37 17 61987572 61987572 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:61987572C>T uc002jda.1 - 4 483 c.421G>A c.(421-423)GAC>AAC p.D141N CSHL1_uc002jcz.1_Missense_Mutation_p.D118N|CSHL1_uc002jdb.1_Missense_Mutation_p.D47N|CSHL1_uc002jdc.1_Missense_Mutation_p.D58N|CSHL1_uc002jdd.1_Missense_Mutation_p.D79N|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_Missense_Mutation_p.D58N|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_Missense_Mutation_p.D47N NM_022579 NP_072101 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 141 extracellular region hormone activity|metal ion binding 0 AGGTGATAGTCATCGCTGTCC 0.592 NaN 0 0 0 0.002222 0 38 84 RGS9 8787 broad.mit.edu 37 17 63156668 63156668 + Nonsense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:63156668G>A uc002jfe.2 + 5 437 c.327G>A c.(325-327)TGG>TGA p.W109* RGS9_uc010dem.2_Nonsense_Mutation_p.W109*|RGS9_uc002jfd.2_Nonsense_Mutation_p.W109*|RGS9_uc002jff.2_RNA NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 109 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 CGTATTTCTGGCCCACCCAGC 0.468 NaN 0 0 0 0.004007 0 17 45 ABCA5 23461 broad.mit.edu 37 17 67257837 67257837 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:67257837G>A uc002jif.2 - 24 4586 c.3368C>T c.(3367-3369)GCT>GTT p.A1123V ABCA5_uc002jib.2_Missense_Mutation_p.A89V|ABCA5_uc002jic.2_Missense_Mutation_p.A346V|ABCA5_uc002jid.2_Missense_Mutation_p.A40V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1123V NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1123 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) GGTGAAAGAAGCAATATAAGT 0.274 NaN 0 0 0 0.000978 0 9 25 TTYH2 94015 broad.mit.edu 37 17 72249233 72249233 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:72249233G>A uc002jkc.2 + 12 1304 c.1273G>A c.(1273-1275)GAT>AAT p.D425N TTYH2_uc010wqw.1_Missense_Mutation_p.D404N|TTYH2_uc002jkd.2_Missense_Mutation_p.D104N NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 425 Cytoplasmic (Potential).|Poly-Asp. chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 CAGAGACTACGATGACATTGA 0.572 NaN 0 0 0 0.00361 0 72 172 DNAI2 64446 broad.mit.edu 37 17 72308171 72308171 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:72308171G>C uc002jkf.2 + 12 1623 c.1524G>C c.(1522-1524)AAG>AAC p.K508N DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 508 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 GGCGAGAGAAGATCCTGGAGG 0.657 NaN Kartagener_syndrome 0 0 0 0.00632 0 24 44 GRIN2C 2905 broad.mit.edu 37 17 72838777 72838777 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:72838777G>A uc002jlt.1 - 13 3655 c.3499C>T c.(3499-3501)CAC>TAC p.H1167Y GRIN2C_uc010wrh.1_RNA NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 1167 Cytoplasmic (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GGTGGAAGGTGAGGACAGACA 0.711 NaN 0 0 0 0.001168 0 6 11 KIAA0195 9772 broad.mit.edu 37 17 73489996 73489996 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:73489996C>T uc002jnz.3 + 18 2681 c.2406C>T c.(2404-2406)GAC>GAT p.D802D KIAA0195_uc010wsa.1_Silent_p.D812D|KIAA0195_uc010wsb.1_Silent_p.D442D|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 802 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) GGAGCTCTGACGGTACCTCAT 0.692 NaN 0 0 0 0.001368 0 7 29 LLGL2 3993 broad.mit.edu 37 17 73559178 73559178 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:73559178C>T uc002joh.2 + 7 766 c.612C>T c.(610-612)ATC>ATT p.I204I LLGL2_uc002jog.1_Silent_p.I204I|LLGL2_uc010dgf.1_Silent_p.I204I|LLGL2_uc002joi.2_Silent_p.I204I|LLGL2_uc010dgg.1_Silent_p.I204I|LLGL2_uc002joj.2_Silent_p.I193I|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 204 WD 4. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCAACCAGATCCTGATCGGCT 0.657 NaN 0 0 0 0.00632 0 26 36 LLGL2 3993 broad.mit.edu 37 17 73559467 73559467 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:73559467C>G uc002joh.2 + 8 903 c.749C>G c.(748-750)TCT>TGT p.S250C LLGL2_uc002jog.1_Missense_Mutation_p.S250C|LLGL2_uc010dgf.1_Missense_Mutation_p.S250C|LLGL2_uc002joi.2_Missense_Mutation_p.S250C|LLGL2_uc010dgg.1_Missense_Mutation_p.S250C|LLGL2_uc002joj.2_Missense_Mutation_p.S239C|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 250 WD 5. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGCTGTCACTCTGACGGCAGC 0.652 NaN 0 0 0 0.007413 0 17 61 EVPL 2125 broad.mit.edu 37 17 74003727 74003727 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:74003727G>A uc002jqi.2 - 22 5787 c.5559C>T c.(5557-5559)ATC>ATT p.I1853I EVPL_uc010wss.1_Silent_p.I1875I|EVPL_uc010wst.1_Silent_p.I1323I NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1853 Globular 2.|Plectin 3. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TCTGCCCAGTGATGGGGTCCA 0.612 NaN 0 0 0 0.00361 0 58 155 SRP68 6730 broad.mit.edu 37 17 74068493 74068493 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:74068493C>T uc002jqk.1 - 1 115 c.80G>A c.(79-81)AGC>AAC p.S27N SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.S27N|GALR2_uc002jqm.1_5'Flank NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 27 Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 Tccaccgccgctaccgccgcc 0.378 NaN 0 0 0 0.008361 0 25 48 EXOC7 23265 broad.mit.edu 37 17 74085384 74085384 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:74085384C>A uc002jqs.2 - 9 1167 c.1072G>T c.(1072-1074)GAC>TAC p.D358Y EXOC7_uc010dgv.1_Missense_Mutation_p.D254Y|EXOC7_uc002jqq.2_Missense_Mutation_p.D307Y|EXOC7_uc010wsw.1_Missense_Mutation_p.D330Y|EXOC7_uc010wsx.1_Missense_Mutation_p.D299Y|EXOC7_uc002jqr.2_Missense_Mutation_p.D276Y|EXOC7_uc010wsv.1_Missense_Mutation_p.D266Y NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 358 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) GTCTCCACGTCCAGCATGTCA 0.647 NaN 1 0 4.96729e-08 0.008871 6.16165e-08 20 32 USP36 57602 broad.mit.edu 37 17 76817134 76817134 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:76817134G>T uc002jvz.1 - 8 1092 c.767C>A c.(766-768)TCC>TAC p.S256Y USP36_uc002jwa.1_Missense_Mutation_p.S256Y|USP36_uc002jwc.1_5'UTR NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 256 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTTGCACACGGAGCACTTCAC 0.607 NaN 1 0 2.0095e-06 0.001984 2.46908e-06 7 3 CARD14 79092 broad.mit.edu 37 17 78166356 78166356 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:78166356G>T uc002jxw.1 + 9 1489 c.1294G>T c.(1294-1296)GTG>TTG p.V432L CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.V432L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.V195L|CARD14_uc010dhu.1_Missense_Mutation_p.V230L NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 432 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCAGCGGCTGGTGCGGATGCA 0.637 NaN 1 0 1.64293e-13 0.00333 2.11895e-13 25 72 CHMP6 79643 broad.mit.edu 37 17 78970862 78970862 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:78970862A>G uc002jyw.3 + 5 482 c.404A>G c.(403-405)GAG>GGG p.E135G NM_024591 NP_078867 Q96FZ7 CHMP6_HUMAN chromatin modifying protein 6 135 Potential. cellular membrane organization|endosome transport|protein transport cytosol|endomembrane system|late endosome membrane protein N-terminus binding ovary(1) 1 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAGGCCGTGGAGTACCAGCGG 0.632 NaN 0 0 0 0.00245 0 15 41 HGS 9146 broad.mit.edu 37 17 79668080 79668080 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:79668080C>T uc002kbg.2 + 21 2219 c.2142C>T c.(2140-2142)CTC>CTT p.L714L MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 714 Interaction with NF2.|Gln-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) AACAGAATCTCATGACCACCC 0.602 NaN 0 0 0 0.001523 0 20 71 NOTUM 147111 broad.mit.edu 37 17 79916822 79916822 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:79916822G>A uc010wvg.1 - 4 794 c.522C>T c.(520-522)AAC>AAT p.N174N NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 174 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCATGTTTGCGTTCCACCAGT 0.602 NaN 0 0 0 0.007291 0 24 60 MYL12A 10627 broad.mit.edu 37 18 3255845 3255845 + Nonsense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:3255845A>T uc002klr.2 + 4 840 c.445A>T c.(445-447)AAA>TAA p.K149* MYL12A_uc002kls.2_Nonsense_Mutation_p.K155* NM_006471 NP_006462 P19105 ML12A_HUMAN myosin, light chain 12A, regulatory, 149 EF-hand 3. myosin complex calcium ion binding|protein binding 0 ACCTATTGATAAAAAGGGGAA 0.433 NaN 0 0 0 0.001368 0 13 30 DLGAP1 9229 broad.mit.edu 37 18 3499238 3499238 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:3499238G>A uc002kmf.2 - 10 2946 c.2879C>T c.(2878-2880)ACC>ATC p.T960I DLGAP1_uc002kme.1_Missense_Mutation_p.T658I|DLGAP1_uc010dkn.2_Missense_Mutation_p.T668I|DLGAP1_uc010wyw.1_Missense_Mutation_p.T666I|DLGAP1_uc010wyx.1_Missense_Mutation_p.T682I|DLGAP1_uc010wyy.1_Missense_Mutation_p.T644I NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 960 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GGCGCTCTCGGTGGCCGAGTT 0.731 NaN 0 0 0 0.001368 0 9 21 CEP192 55125 broad.mit.edu 37 18 13059227 13059227 + Silent SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:13059227G>C uc010xac.1 + 21 4484 c.4404G>C c.(4402-4404)TCG>TCC p.S1468S CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S993S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.S1209S NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1468 ovary(4)|pancreas(1) 5 GGCCATGTTCGACAGATGCTG 0.468 NaN 0 0 0 0.00361 0 47 112 CEP192 55125 broad.mit.edu 37 18 13069784 13069784 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:13069784C>T uc010xac.1 + 27 5183 c.5103C>T c.(5101-5103)CTC>CTT p.L1701L CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.L1226L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.L123L|CEP192_uc002krw.2_5'UTR NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1701 ovary(4)|pancreas(1) 5 AGAATCTACTCCTTAAACCTG 0.343 NaN 0 0 0 0.001786 0 30 62 DSG2 1829 broad.mit.edu 37 18 29102165 29102165 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:29102165A>C uc002kwu.3 + 6 831 c.643A>C c.(643-645)AAA>CAA p.K215Q NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 215 Extracellular (Potential).|Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CTACCTAAATAAAGATACAGG 0.388 NaN 0 0 0 0.00278 0 22 44 MEP1B 4225 broad.mit.edu 37 18 29775413 29775413 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:29775413C>T uc002kxj.3 + 5 262 c.215C>T c.(214-216)CCT>CTT p.P72L NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 72 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 TATAGATGGCCTCATACCATT 0.328 NaN 0 0 0 0.008871 0 16 39 KIAA1632 57724 broad.mit.edu 37 18 43487976 43487976 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:43487976G>A uc002lbm.2 - 24 4376 c.4276C>T c.(4276-4278)CTA>TTA p.L1426L KIAA1632_uc002lbo.1_Silent_p.L1426L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.L301L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1426 autophagy 0 TGCTTTGGTAGAGAAGGGATA 0.308 NaN 0 0 0 0.00361 0 47 124 TCEB3C 162699 broad.mit.edu 37 18 44554662 44554662 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:44554662C>T uc010xdb.1 - 1 1788 c.1552G>A c.(1552-1554)GAC>AAC p.D518N KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CGGGTTTTGTccgcgggcgcc 0.358 NaN 0 0 0 0.008871 0 12 449 MAPK4 5596 broad.mit.edu 37 18 48190843 48190843 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:48190843C>T uc002lev.2 + 2 1515 c.515C>T c.(514-516)GCA>GTA p.A172V MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.A172V NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 172 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) TTCGGGTTGGCAAGGATCGTT 0.532 NaN 0 0 0 0.00278 0 24 86 DSEL 92126 broad.mit.edu 37 18 65178545 65178545 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:65178545G>A uc002lke.1 - 2 4555 c.3331C>T c.(3331-3333)CAC>TAC p.H1111Y NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1101 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AGCCACAAGTGAGACAAGAGG 0.388 NaN 0 0 0 0.004007 0 16 59 ZADH2 284273 broad.mit.edu 37 18 72913707 72913707 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:72913707C>T uc002llx.2 - 2 1066 c.798G>A c.(796-798)TTG>TTA p.L266L ZADH2_uc010dqv.2_Silent_p.L143L NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 266 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) CTATTACTATCAAGCGCCCTT 0.507 NaN 0 0 0 0.004656 0 26 71 C18orf22 79863 broad.mit.edu 37 18 77794534 77794534 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:77794534G>T uc002lns.2 + 1 177 c.39G>T c.(37-39)GCG>GCT p.A13A TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Silent_p.A13A|C18orf22_uc010dri.1_RNA NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 13 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) GCTCCCGCGCGGGTCTCCGGG 0.706 NaN 1 0 1.12685e-05 0.004482 1.37805e-05 9 40 MED16 10025 broad.mit.edu 37 19 872058 872058 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:872058G>T uc002lqd.1 - 12 2117 c.1966C>A c.(1966-1968)CGG>AGG p.R656R MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R645R|MED16_uc002lqf.2_Silent_p.R645R NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 656 WD 4. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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) ATCAATTCCCGAAGCATGCCC 0.662 NaN 1 0 1.52009e-12 0.003163 1.94123e-12 14 52 HMHA1 23526 broad.mit.edu 37 19 1073267 1073267 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:1073267G>T uc002lqz.1 + 3 772 c.541G>T c.(541-543)GGC>TGC p.G181C HMHA1_uc010xgd.1_Missense_Mutation_p.G197C|HMHA1_uc010xge.1_Missense_Mutation_p.G21C|HMHA1_uc002lra.1_Missense_Mutation_p.G21C|HMHA1_uc002lrb.1_Missense_Mutation_p.G64C NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 181 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CACCGCAGCCGGCACCCTCAT 0.522 NaN 1 0 1.96292e-10 0.001523 2.48637e-10 21 57 CIRBP 1153 broad.mit.edu 37 19 1270999 1270999 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:1270999G>A uc002lrr.3 + 2 216 c.67G>A c.(67-69)GAG>AAG p.E23K C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.W5*|CIRBP_uc002lrt.2_Missense_Mutation_p.E23K|CIRBP_uc010xgl.1_Missense_Mutation_p.E23K|CIRBP_uc002lrv.3_Missense_Mutation_p.E23K|CIRBP_uc002lru.2_RNA NM_001280 NP_001271 Q14011 CIRBP_HUMAN cold inducible RNA binding protein 23 RRM. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) GCAGTCGCTGGAGCAGGTCTT 0.388 NaN 0 0 0 0.00361 0 72 180 CREB3L3 84699 broad.mit.edu 37 19 4159761 4159761 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:4159761G>A uc002lzl.2 + 4 674 c.558G>A c.(556-558)TCG>TCA p.S186S CREB3L3_uc002lzm.2_Silent_p.S176S|CREB3L3_uc010xib.1_Silent_p.S177S|CREB3L3_uc010xic.1_Silent_p.S177S NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 186 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTCCTTTCGGGCAGCAGTG 0.428 NaN 0 0 0 0.002096 0 29 74 UBXN6 80700 broad.mit.edu 37 19 4453498 4453499 + Missense_Mutation DNP TC TC GT TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:4453498_4453499TC>GT uc002man.1 - 3 364_365 c.268_269GA>AC c.(268-270)GAA>ACA p.E90T UBXN6_uc010dty.1_Missense_Mutation_p.E37T|UBXN6_uc002mam.1_Missense_Mutation_p.E37T NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 90 microtubule organizing center|nucleus protein binding 0 GACGGTGGCTTCGGCTTGAAGT 0.629 NaN 0 0 0 0.004672 0 12 33 KIAA1543 57662 broad.mit.edu 37 19 7676817 7676817 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:7676817G>A uc002mgv.3 + 11 1539 c.1438G>A c.(1438-1440)GAC>AAC p.D480N KIAA1543_uc002mgu.3_Missense_Mutation_p.D507N|KIAA1543_uc002mgw.2_5'Flank NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 480 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 TGGGGCGGCCGACGGCAGCTT 0.692 NaN 0 0 0 0.007413 0 17 48 MUC16 94025 broad.mit.edu 37 19 9064866 9064866 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:9064866G>T uc002mkp.2 - 3 22784 c.22580C>A c.(22579-22581)TCT>TAT p.S7527Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7529 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 CCTAGTGTTAGATAAGGCAGG 0.483 NaN 1 0 2.65835e-16 0.007291 3.44568e-16 29 66 OR7G2 390882 broad.mit.edu 37 19 9213259 9213259 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:9213259T>C uc010xkk.1 - 1 724 c.724A>G c.(724-726)ATC>GTC p.I242V NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CAGGAGGTGATCTGAGTGTAA 0.448 NaN 0 0 0 0.007291 0 30 93 SMARCA4 6597 broad.mit.edu 37 19 11094925 11094925 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:11094925G>A uc002mqf.3 + 2 382 c.98G>A c.(97-99)GGT>GAT p.G33D SMARCA4_uc010dxp.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G33D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G33D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqe.2_Missense_Mutation_p.G33D NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 33 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCTAGCCCGGGTCCCTCGCCG 0.726 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.006214 0 10 46 NANOS3 342977 broad.mit.edu 37 19 13988429 13988429 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:13988429C>T uc002mxj.3 + 1 480 c.367C>T c.(367-369)CAC>TAC p.H123Y NM_001098622 NP_001092092 P60323 NANO3_HUMAN nanos homolog 3 104 C2HC 2.|Nanos-type. anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGAGCGCGCCCACACCCGACG 0.652 NaN 0 0 0 0.000978 0 12 22 AKAP8 10270 broad.mit.edu 37 19 15466028 15466028 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:15466028C>T uc002nav.2 - 14 1838 c.1777G>A c.(1777-1779)GGA>AGA p.G593R AKAP8_uc010dzy.2_Missense_Mutation_p.G142R NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 593 signal transduction nuclear matrix ovary(1)|breast(1) 2 GCGGGCGCTCCTTCCCCATCT 0.617 NaN 0 0 0 0.00874 0 39 92 MAP1S 55201 broad.mit.edu 37 19 17837423 17837423 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:17837423C>T uc002nhe.1 + 5 1239 c.1230C>T c.(1228-1230)GCC>GCT p.A410A MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Silent_p.A410A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Silent_p.A384A NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 410 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GCACGCTGGCCTCTGTGTGCG 0.726 NaN 0 0 0 0.000248 0 4 7 UPF1 5976 broad.mit.edu 37 19 18965703 18965703 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:18965703G>A uc002nkg.2 + 10 1589 c.1314G>A c.(1312-1314)TTG>TTA p.L438L UPF1_uc002nkf.2_Silent_p.L427L NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 438 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGAGCGCATTGAAAACGTTTG 0.587 NaN 0 0 0 0.00499 0 16 37 ZNF101 94039 broad.mit.edu 37 19 19790184 19790184 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:19790184G>T uc002nni.1 + 4 496 c.386G>T c.(385-387)CGA>CTA p.R129L ZNF101_uc010ecg.1_Missense_Mutation_p.R9L|ZNF101_uc002nnj.1_Missense_Mutation_p.R9L NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGACACAAACGATCTGAGTGT 0.522 NaN 1 0 1.5548e-18 0.005443 2.03561e-18 28 62 ZNF708 7562 broad.mit.edu 37 19 21493399 21493399 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:21493399C>T uc002npq.1 - 2 232 c.34G>A c.(34-36)GAA>AAA p.E12K ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 12 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 AGAGAGAATTCTATGGCCACA 0.398 NaN 0 0 0 0.002836 0 33 109 PDCD5 9141 broad.mit.edu 37 19 33072194 33072194 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:33072194G>A uc002ntm.2 + 1 91 c.27G>A c.(25-27)CTG>CTA p.L9L PDCD5_uc002ntl.2_Silent_p.L9L|PDCD5_uc010ede.2_RNA NM_004708 NP_004699 O14737 PDCD5_HUMAN programmed cell death 5 9 apoptosis|induction of apoptosis cytoplasm|nucleus DNA binding ovary(1)|lung(1) 2 Esophageal squamous(110;0.137) TTGAGGCGCTGAGGAGACAGA 0.736 NaN 0 0 0 0.004482 0 7 11 ANKRD27 84079 broad.mit.edu 37 19 33106574 33106574 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:33106574G>A uc002ntn.1 - 22 2321 c.2165C>T c.(2164-2166)CCA>CTA p.P722L NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 722 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) CTTCTGAGCTGGGGCACACTT 0.438 NaN 0 0 0 0.008361 0 25 89 UBA2 10054 broad.mit.edu 37 19 34919421 34919421 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:34919421C>T uc002nvk.2 + 1 154 c.84C>T c.(82-84)ATC>ATT p.I28I UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 28 ATP. protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CGGGCGGCATCGGCTGCGAGC 0.736 NaN 0 0 0 0.00245 0 12 29 LSR 51599 broad.mit.edu 37 19 35758181 35758181 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:35758181C>T uc002nyl.2 + 9 1681 c.1458C>T c.(1456-1458)GCC>GCT p.A486A LSR_uc002nym.2_Silent_p.A467A|LSR_uc002nyn.2_Silent_p.A418A|LSR_uc002nyo.2_Silent_p.A466A|LSR_uc010xsr.1_Silent_p.A378A|LSR_uc002nyp.2_Silent_p.A428A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 486 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) gctggcgggccaggcggcccc 0.577 NaN 0 0 0 0.004672 0 3 6 CD22 933 broad.mit.edu 37 19 35823632 35823632 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:35823632G>A uc010edt.2 + 3 294 c.217G>A c.(217-219)GGG>AGG p.G73R CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.G73R|CD22_uc010edv.2_Missense_Mutation_p.G73R|CD22_uc002nzb.3_Missense_Mutation_p.G73R NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 73 Extracellular (Potential).|Ig-like V-type. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GAAGTTTGATGGGACAAGACT 0.473 NaN 0 0 0 0.00623 0 39 99 LGALS4 3960 broad.mit.edu 37 19 39292541 39292541 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:39292541G>C uc002ojg.2 - 10 1049 c.835C>G c.(835-837)CGC>GGC p.R279G NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 279 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) AAGCCACAGCGAATGGACAGC 0.562 NaN 0 0 0 0.00361 0 47 113 EID2 163126 broad.mit.edu 37 19 40030040 40030040 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:40030040A>C uc002oma.2 - 1 799 c.680T>G c.(679-681)CTT>CGT p.L227R NM_153232 NP_694964 Q8N6I1 EID2_HUMAN CREBBP/EP300 inhibitor 2 227 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) ATCGCAACCAAGTTCTTCTAT 0.413 NaN 0 0 0 0.004656 0 25 80 PRX 57716 broad.mit.edu 37 19 40901699 40901699 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:40901699G>A uc002onr.2 - 7 2829 c.2560C>T c.(2560-2562)CTG>TTG p.L854L PRX_uc002onq.2_Silent_p.L715L|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 854 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGAAGGCAGAGTGAGAGAG 0.632 NaN 0 0 0 0.004656 0 26 90 CIC 23152 broad.mit.edu 37 19 42797418 42797418 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:42797418G>A uc002otf.1 + 15 3820 c.3780G>A c.(3778-3780)AAG>AAA p.K1260K NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 1260 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) CCAGCGCCAAGGGCCCTGAGA 0.667 NaN T DUX4 soft tissue sarcoma 0 0 0 0.004672 0 3 9 ZNF225 7768 broad.mit.edu 37 19 44635316 44635316 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:44635316G>C uc002oyj.1 + 5 792 c.549G>C c.(547-549)AAG>AAC p.K183N ZNF225_uc010eje.1_Missense_Mutation_p.K100N|ZNF225_uc010ejf.1_Missense_Mutation_p.K183N NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 183 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AATGTGGAAAGAGTTTCTGTT 0.403 NaN 0 0 0 0.00278 0 25 91 ZNF180 7733 broad.mit.edu 37 19 44980836 44980836 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:44980836G>C uc002ozf.3 - 5 2144 c.1862C>G c.(1861-1863)ACT>AGT p.T621S ZNF180_uc002ozh.3_Missense_Mutation_p.T278S|ZNF180_uc002ozi.3_Missense_Mutation_p.T594S|ZNF180_uc002ozg.3_Missense_Mutation_p.T620S|ZNF180_uc010ejm.2_Missense_Mutation_p.T596S NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 621 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) CTGATGTTGAGTAAGGCATGA 0.398 NaN 0 0 0 0.006999 0 43 89 ERCC2 2068 broad.mit.edu 37 19 45871992 45871992 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:45871992C>G uc002pbj.2 - 5 303 c.256G>C c.(256-258)GAG>CAG p.E86Q ERCC2_uc010ejz.2_Missense_Mutation_p.E86Q|ERCC2_uc002pbk.2_Missense_Mutation_p.E62Q|ERCC2_uc002pbl.3_Missense_Mutation_p.E62Q|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 86 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TTTCGAAGCTCTTCAATCACC 0.562 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.001984 0 7 26 IGFL4 444882 broad.mit.edu 37 19 46543538 46543538 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:46543538C>A uc002pdy.1 - 3 261 c.207G>T c.(205-207)TGG>TGT p.W69C NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 precursor 69 extracellular region 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GGAAGCAGGGCCAGAAGGTGC 0.592 NaN 1 0 3.7963e-18 0.00333 4.96195e-18 26 57 HIF3A 64344 broad.mit.edu 37 19 46825102 46825102 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:46825102A>C uc002peh.2 + 10 1243 c.1214A>C c.(1213-1215)GAC>GCC p.D405A HIF3A_uc002peg.3_Missense_Mutation_p.D405A|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D349A|HIF3A_uc002pej.1_Missense_Mutation_p.D336A|HIF3A_uc002pek.2_Missense_Mutation_p.D349A|HIF3A_uc010xxy.1_Missense_Mutation_p.D336A|HIF3A_uc002pel.2_Missense_Mutation_p.D403A|HIF3A_uc010xxz.1_Missense_Mutation_p.D354A NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTGGCCGCTGACCCCCGCCGT 0.692 NaN 0 0 0 0.003271 0 10 131 GRLF1 2909 broad.mit.edu 37 19 47422461 47422461 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:47422461C>G uc010ekv.2 + 1 529 c.529C>G c.(529-531)CAG>GAG p.Q177E NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 177 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) CTTTGATGACCAGCTCAAGTT 0.443 NaN 0 0 0 0.002836 0 29 100 DHX34 9704 broad.mit.edu 37 19 47865850 47865850 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:47865850G>C uc010xyn.1 + 6 1834 c.1493G>C c.(1492-1494)GGA>GCA p.G498A DHX34_uc010elc.1_Missense_Mutation_p.G413A NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 498 Helicase C-terminal. 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) ACGGGCCCCGGAGTCTGCTTC 0.657 NaN 0 0 0 0.001855 0 12 27 PPFIA3 8541 broad.mit.edu 37 19 49652416 49652416 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:49652416G>A uc002pmr.2 + 26 3608 c.3276G>A c.(3274-3276)CAG>CAA p.Q1092Q PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.Q951Q|PPFIA3_uc002pmt.2_Silent_p.Q231Q|PPFIA3_uc002pmu.1_Silent_p.Q141Q NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 1092 SAM 3. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TCCCCACGCAGAATGCACAGG 0.677 NaN 0 0 0 0.006122 0 16 38 RCN3 57333 broad.mit.edu 37 19 50031853 50031853 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:50031853G>A uc002poj.2 + 2 571 c.124G>A c.(124-126)GAC>AAC p.D42N NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 42 endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CCCCCTGAGCGACGCTCCCCA 0.652 NaN 0 0 0 0.00874 0 41 111 PNKP 11284 broad.mit.edu 37 19 50365522 50365522 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:50365522G>A uc002pqh.2 - 11 1098 c.1046C>T c.(1045-1047)TCA>TTA p.S349L PNKP_uc002pqg.2_Missense_Mutation_p.S130L|PNKP_uc002pqi.2_Missense_Mutation_p.S310L|PNKP_uc002pqj.2_Missense_Mutation_p.S349L|PNKP_uc010enm.2_Missense_Mutation_p.S318L|PNKP_uc002pqk.2_Missense_Mutation_p.S349L NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 349 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GAGAGGCCCTGAGCGGGAGAC 0.607 NaN Other_BER_factors 0 0 0 0.00308 0 7 19 SHANK1 50944 broad.mit.edu 37 19 51169762 51169762 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:51169762C>G uc002psx.1 - 22 5474 c.5455G>C c.(5455-5457)GAG>CAG p.E1819Q SHANK1_uc002psw.1_Missense_Mutation_p.E1203Q NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1819 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ACTTCTGGCTCTACAGCCACC 0.726 NaN 0 0 0 0.001984 0 7 14 LENG9 94059 broad.mit.edu 37 19 54974069 54974069 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:54974069G>A uc010yez.1 - 1 826 c.707C>T c.(706-708)GCC>GTC p.A236V NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 236 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) CCTCTCCTGGGCCGCCTCCAG 0.682 NaN 0 0 0 0.001786 0 30 52 EPS8L1 54869 broad.mit.edu 37 19 55593171 55593171 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:55593171G>C uc002qis.3 + 9 909 c.805G>C c.(805-807)GAG>CAG p.E269Q EPS8L1_uc010ess.1_Missense_Mutation_p.E251Q|EPS8L1_uc010est.1_Missense_Mutation_p.E269Q|EPS8L1_uc010yfr.1_Missense_Mutation_p.E205Q|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.E142Q|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_5'Flank NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 269 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CGACGACGTAGAGAGCTTTGT 0.667 NaN 0 0 0 0.008871 0 19 48 NLRP4 147945 broad.mit.edu 37 19 56388434 56388434 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:56388434G>A uc002qmd.3 + 8 3020 c.2598G>A c.(2596-2598)CTG>CTA p.L866L NLRP4_uc002qmf.2_Silent_p.L791L|NLRP4_uc010etf.2_Silent_p.L641L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 866 LRR 6. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATCAAAACCTGAAGATTCTGC 0.478 NaN 0 0 0 0.00361 0 58 172 ZNF583 147949 broad.mit.edu 37 19 56935524 56935524 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:56935524A>T uc010ygl.1 + 5 1662 c.1497A>T c.(1495-1497)AAA>AAT p.K499N ZNF583_uc002qnc.2_Missense_Mutation_p.K499N|ZNF583_uc010ygm.1_Missense_Mutation_p.K499N NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 499 C2H2-type 11. 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;0.0564) TTTGTGGGAAAGCATTTAGCT 0.393 NaN 0 0 0 0.006999 0 41 95 ZNF264 9422 broad.mit.edu 37 19 57716855 57716855 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr19:57716855G>A uc002qob.2 + 3 664 c.251G>A c.(250-252)TGT>TAT p.C84Y NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CAAGACACCTGTCCAGGTAGG 0.552 NaN 0 0 0 0.00308 0 7 27 ZNF512 84450 broad.mit.edu 37 2 27821012 27821012 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:27821012G>A uc002rla.2 + 3 255 c.168G>A c.(166-168)TCG>TCA p.S56S ZNF512_uc010ylv.1_5'UTR|ZNF512_uc010ylw.1_Silent_p.S55S|ZNF512_uc002rlb.2_5'UTR|ZNF512_uc010ylx.1_5'UTR|ZNF512_uc002rlc.2_5'UTR|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_5'UTR NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 56 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GTGGTTCATCGTCTGCATCTT 0.408 NaN 0 0 0 0.003755 0 32 101 PLB1 151056 broad.mit.edu 37 2 28824168 28824168 + Missense_Mutation SNP G G T rs146498076 byFrequency TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:28824168G>T uc002rmb.1 + 37 2576 c.2576G>T c.(2575-2577)GGC>GTC p.G859V PLB1_uc010ezj.1_Missense_Mutation_p.G848V|PLB1_uc002rme.1_5'Flank NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 859 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) CTGATCGGAGGCAGCGATTTA 0.453 NaN 1 0 6.21321e-17 0.00278 8.08029e-17 21 24 BIRC6 57448 broad.mit.edu 37 2 32626450 32626450 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:32626450G>A uc010ezu.2 + 7 1388 c.1254G>A c.(1252-1254)ATG>ATA p.M418I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 418 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CCAAACTTATGAAGGTATGTT 0.358 NaN 0 0 0 0.00361 0 148 133 BIRC6 57448 broad.mit.edu 37 2 32738069 32738069 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:32738069G>T uc010ezu.2 + 54 10550 c.10416G>T c.(10414-10416)ATG>ATT p.M3472I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3472 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GTGGCAGGATGAACTACATGT 0.418 NaN 1 0 1.11015e-26 0.00361 1.49105e-26 54 45 BIRC6 57448 broad.mit.edu 37 2 32832589 32832589 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:32832589G>T uc010ezu.2 + 72 14272 c.14138G>T c.(14137-14139)CGG>CTG p.R4713L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4713 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGATATGAACGGTCTAGAGGC 0.423 NaN 1 0 6.93263e-47 0.00361 9.44146e-47 118 90 PLEKHH2 130271 broad.mit.edu 37 2 43989514 43989514 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:43989514A>C uc010yny.1 + 28 4226 c.4143A>C c.(4141-4143)TTA>TTC p.L1381F NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1381 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TAAGCCTCTTAGAATACAACT 0.368 NaN 0 0 0 0.00361 0 58 38 XPO1 7514 broad.mit.edu 37 2 61724137 61724137 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:61724137C>T uc002sbj.2 - 10 1493 c.765G>A c.(763-765)CTG>CTA p.L255L XPO1_uc010fcl.2_Silent_p.L251L|XPO1_uc010ypn.1_Silent_p.L251L|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 255 Necessary for HTLV-1 Rex-mediated mRNA export.|HEAT 2. 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 p.L255L(1) 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) TTGGAACATTCAGGAACTATT 0.348 NaN 0 0 0 0.00361 0 47 24 POLR1A 25885 broad.mit.edu 37 2 86325857 86325857 + Silent SNP A A C rs36023304 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:86325857A>C uc002sqs.2 - 3 688 c.309T>G c.(307-309)TCT>TCG p.S103S POLR1A_uc002sqv.2_Silent_p.S103S NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 103 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AGTTTAAACAAGAGCCCCGAA 0.498 NaN 0 0 0 0.00361 0 80 47 CNNM3 26505 broad.mit.edu 37 2 97483118 97483118 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:97483118G>A uc002swy.2 + 1 1128 c.1104G>A c.(1102-1104)TTG>TTA p.L368L CNNM3_uc002swz.2_Silent_p.L368L NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 368 CBS 1. ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 TCAAGGACTTGGCCTTCGTGG 0.602 NaN 0 0 0 0.00361 0 61 51 IL1F10 84639 broad.mit.edu 37 2 113832888 113832888 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:113832888A>G uc002tiu.2 + 5 481 c.406A>G c.(406-408)AAG>GAG p.K136E IL1F10_uc002tiv.2_Missense_Mutation_p.K136E|IL1F10_uc002tiw.2_Missense_Mutation_p.K128E NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 136 extracellular space cytokine activity|interleukin-1 receptor antagonist activity ovary(1) 1 ACAGCTCACCAAGGAGAGTGA 0.597 NaN 0 0 0 0.00361 0 93 68 PTPN18 26469 broad.mit.edu 37 2 131127379 131127379 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:131127379C>T uc002trc.2 + 7 626 c.525C>T c.(523-525)ACC>ACT p.T175T PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.T68T|PTPN18_uc002tre.2_5'Flank NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 175 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) TGCTCAGGACCCTCAAGGTCA 0.443 NaN 0 0 0 0.003755 0 33 27 STAM2 10254 broad.mit.edu 37 2 152980445 152980445 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:152980445T>C uc002tyc.3 - 13 1534 c.1184A>G c.(1183-1185)TAT>TGT p.Y395C NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 395 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) TTGAACTGGATATGTCTATTA 0.358 NaN 0 0 0 0.00361 0 51 39 KCNJ3 3760 broad.mit.edu 37 2 155555300 155555300 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:155555300C>T uc002tyv.1 + 1 208 c.13C>T c.(13-15)CGA>TGA p.R5* KCNJ3_uc010zce.1_Nonsense_Mutation_p.R5* NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 5 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) GTCTGCACTCCGAAGGAAATT 0.602 NaN 0 0 0 0.00361 0 48 50 BAZ2B 29994 broad.mit.edu 37 2 160245986 160245986 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:160245986C>A uc002uao.2 - 21 3438 c.3086G>T c.(3085-3087)CGG>CTG p.R1029L BAZ2B_uc002uap.2_Missense_Mutation_p.R993L NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1029 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTGTTTCAACCGCTCTTTTTC 0.294 NaN 1 0 0.00010058 0.001368 0.000122425 12 37 PDE11A 50940 broad.mit.edu 37 2 178936328 178936328 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:178936328C>A uc002ulq.2 - 1 1155 c.837G>T c.(835-837)CAG>CAT p.Q279H PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 279 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CCCAGGGGACCTGCACCTCAT 0.522 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 1 0 3.07327e-39 0.00361 4.16361e-39 91 81 TTN 7273 broad.mit.edu 37 2 179422610 179422610 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:179422610G>T uc010zfg.1 - 277 79991 c.79767C>A c.(79765-79767)CTC>CTA p.L26589L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20284L|TTN_uc010zfi.1_Silent_p.L20217L|TTN_uc010zfj.1_Silent_p.L20092L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27516 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) GCTCCCATTTGAGAGTCACAC 0.428 NaN 1 0 7.99423e-63 0.00361 1.09446e-62 130 298 RAPH1 65059 broad.mit.edu 37 2 204360028 204360028 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:204360028T>G uc002vad.2 - 2 274 c.49A>C c.(49-51)AGT>CGT p.S17R RAPH1_uc002vae.2_Missense_Mutation_p.S17R|RAPH1_uc002vaf.2_Missense_Mutation_p.S17R NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 17 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 TCCTTGTCACTGTCTTCTTCA 0.413 NaN 0 0 0 0.00361 0 73 64 GPR1 2825 broad.mit.edu 37 2 207041473 207041473 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:207041473G>C uc002vbl.3 - 3 885 c.499C>G c.(499-501)CTA>GTA p.L167V GPR1_uc010fue.2_Missense_Mutation_p.L167V|GPR1_uc010fuf.2_Missense_Mutation_p.L167V NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 167 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) CCGCCAATTAGAGAAGCCAAA 0.433 NaN 0 0 0 0.002096 0 33 35 PRLH 51052 broad.mit.edu 37 2 238475309 238475309 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:238475309G>A uc010znl.1 + 1 93 c.93G>A c.(91-93)GAG>GAA p.E31E NM_015893 NP_056977 P81277 PRRP_HUMAN prolactin releasing hormone precursor 31 extracellular region 0 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) ACTCCATGGAGATCCGCAGTG 0.652 NaN 0 0 0 0.004672 0 3 3 ZCCHC3 85364 broad.mit.edu 37 20 279103 279103 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:279103G>T uc002wdf.2 + 2 897 c.873G>T c.(871-873)GGG>GGT p.G291G ZCCHC3_uc002wdg.2_RNA NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 292 nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) ACAGGTTTGGGATCTGGACCG 0.647 NaN 1 0 2.48696e-23 0.003271 3.31169e-23 34 106 TBC1D20 128637 broad.mit.edu 37 20 419827 419827 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:419827C>T uc002wds.2 - 7 1019 c.881G>A c.(880-882)AGA>AAA p.R294K TBC1D20_uc002wdv.2_Missense_Mutation_p.R117K|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 294 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) GTCTCCTGCTCTGCTGATCAG 0.582 NaN 0 0 0 0.000978 0 12 43 SNPH 9751 broad.mit.edu 37 20 1286301 1286301 + Nonsense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:1286301C>G uc002wes.2 + 6 1324 c.1088C>G c.(1087-1089)TCA>TGA p.S363* SNPH_uc002wet.2_Nonsense_Mutation_p.S407* NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 363 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GACCCCAACTCAGCAGTGGTG 0.657 NaN 0 0 0 0.007413 0 20 71 TGM6 343641 broad.mit.edu 37 20 2413168 2413168 + Nonsense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:2413168C>A uc002wfy.1 + 13 2061 c.2000C>A c.(1999-2001)TCA>TAA p.S667* TGM6_uc010gal.1_Silent_p.L622L NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 667 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) GAGAGGGCCTCAGTCCAGTTT 0.587 NaN 1 0 1.36615e-20 0.002836 1.80378e-20 34 95 OXT 5020 broad.mit.edu 37 20 3052881 3052881 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:3052881G>A uc002wht.1 + 2 315 c.279G>A c.(277-279)GGG>GGA p.G93G NM_000915 NP_000906 P01178 NEU1_HUMAN oxytocin-neurophysin I preproprotein 93 signal transduction neurohypophyseal hormone activity 0 Oxytocin(DB00107) AGGCGTGCGGGAGCGGGGGCC 0.766 NaN 0 0 0 0.001855 0 13 28 CENPB 1059 broad.mit.edu 37 20 3766484 3766484 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:3766484C>T uc002wjk.2 - 1 854 c.647G>A c.(646-648)GGA>GAA p.G216E CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 216 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 ACGCGGCCGTCCGTCGCCTCC 0.706 NaN 0 0 0 0.003755 0 32 116 JAG1 182 broad.mit.edu 37 20 10639244 10639244 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:10639244T>A uc002wnw.2 - 4 1082 c.566A>T c.(565-567)GAC>GTC p.D189V NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 189 Extracellular (Potential).|DSL. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 ATAGTAGTAGTCATCACAGGT 0.527 NaN Alagille_Syndrome 0 0 0 0.005524 0 37 95 C20orf160 140706 broad.mit.edu 37 20 30602794 30602794 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:30602794C>T uc002wxf.2 + 2 131 c.118C>T c.(118-120)CAC>TAC p.H40Y NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 40 central_nervous_system(3)|ovary(1) 4 CCGGCCCCTGCACTCGATGCC 0.637 NaN 0 0 0 0.00361 0 58 133 SLC2A10 81031 broad.mit.edu 37 20 45355551 45355551 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:45355551G>A uc002xsl.2 + 3 1434 c.1337G>A c.(1336-1338)AGA>AAA p.R446K NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 446 Helical; Name=11; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) ATACGAGGAAGAGCCTTCGCC 0.562 NaN 0 0 0 0.003214 0 48 137 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:46279860G>A uc002xtk.2 + 20 3991 c.3786G>A c.(3784-3786)CAG>CAA p.Q1262Q NCOA3_uc010ght.1_Silent_p.Q1253Q|NCOA3_uc002xtl.2_Silent_p.Q1258Q|NCOA3_uc002xtm.2_Silent_p.Q1257Q|NCOA3_uc002xtn.2_Silent_p.Q1261Q|NCOA3_uc010zyc.1_Silent_p.Q1057Q NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1262 Poly-Gln.|Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 agcagcagcagcagcaacagc 0.308 NaN 0 0 0 0.001168 0 5 70 GNAS 2778 broad.mit.edu 37 20 57485061 57485061 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:57485061G>A uc002xzw.2 + 11 3109 c.2824G>A c.(2824-2826)GAG>AAG p.E942K GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E240K|GNAS_uc002xzx.2_Missense_Mutation_p.E240K|GNAS_uc010gjr.2_Missense_Mutation_p.E190K|GNAS_uc002xzy.2_Missense_Mutation_p.E225K|GNAS_uc002yaa.2_Missense_Mutation_p.E285K|GNAS_uc010zzt.1_Missense_Mutation_p.E300K|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E190K|GNAS_uc002yae.2_Missense_Mutation_p.E224K NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 299 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCTGCTCGCTGAGAAAGTCCT 0.507 NaN Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 0 0 0 0.00361 0 67 162 GMEB2 26205 broad.mit.edu 37 20 62229137 62229137 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:62229137G>A uc002yfp.1 - 4 913 c.434C>T c.(433-435)GCC>GTC p.A145V GMEB2_uc002yfo.1_Missense_Mutation_p.A67V|GMEB2_uc002yfq.1_Missense_Mutation_p.A145V NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 145 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CATGCGGATGGCTCTCTTCCA 0.597 NaN 0 0 0 0.005443 0 24 48 CLDN17 26285 broad.mit.edu 37 21 31538933 31538933 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr21:31538933C>T uc011acv.1 - 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 1 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 GATAAAATGCCATTGCCTTTA 0.468 NaN 0 0 0 0.00245 0 15 59 GCFC1 94104 broad.mit.edu 37 21 34131446 34131446 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr21:34131446A>C uc002yqn.2 - 7 1518 c.1328T>G c.(1327-1329)TTT>TGT p.F443C GCFC1_uc002yqm.2_5'Flank|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F443C NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 443 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 TTCTTGCAAAAATTTATACCG 0.408 NaN 0 0 0 0.00361 0 64 156 BRWD1 54014 broad.mit.edu 37 21 40574387 40574387 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr21:40574387C>T uc002yxk.1 - 38 4588 c.4449G>A c.(4447-4449)AGG>AGA p.R1483R BRWD1_uc010goc.1_Silent_p.R126R|BRWD1_uc002yxl.2_Silent_p.R1483R|BRWD1_uc010god.1_Silent_p.R401R NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1483 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GATAAGCTGTCCTACTTGAGG 0.428 NaN 0 0 0 0.003954 0 25 50 MX2 4600 broad.mit.edu 37 21 42780076 42780076 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr21:42780076G>A uc002yzf.1 + 14 2168 c.2064G>A c.(2062-2064)AAG>AAA p.K688K MX2_uc002yzg.1_Silent_p.K411K|MX2_uc010gop.1_Silent_p.K170K NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 688 GED. response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CCGCTACCAAGAGAAGAATCC 0.502 NaN 0 0 0 0.00361 0 54 65 PCNT 5116 broad.mit.edu 37 21 47769713 47769713 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr21:47769713C>T uc002zji.3 + 8 1430 c.1323C>T c.(1321-1323)AGC>AGT p.S441S PCNT_uc002zjj.2_Silent_p.S323S|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 441 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TCAAAGAGAGCGAGAAAGAAA 0.433 NaN 0 0 0 0.007835 0 41 66 CCT8L2 150160 broad.mit.edu 37 22 17072837 17072837 + Missense_Mutation SNP G G T rs142343817 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:17072837G>T uc002zlp.1 - 1 864 c.604C>A c.(604-606)CGT>AGT p.R202S NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 202 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ACCCCAACACGCTCAGGCTTG 0.612 NaN 1 0 7.68411e-24 0.008361 1.02499e-23 29 122 BCL2L13 23786 broad.mit.edu 37 22 18185037 18185037 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:18185037A>C uc002zmw.2 + 6 703 c.485A>C c.(484-486)CAA>CCA p.Q162P BCL2L13_uc002zmu.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmv.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_5'UTR|BCL2L13_uc011agk.1_Missense_Mutation_p.Q38P|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_5'UTR NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 162 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) TTGCTACGACAAATGCTTTTG 0.398 NaN 0 0 0 0.002222 0 38 162 TRMT2A 27037 broad.mit.edu 37 22 20103676 20103676 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:20103676C>T uc002zrk.1 - 3 699 c.484G>A c.(484-486)GAG>AAG p.E162K TRMT2A_uc002zrl.1_Missense_Mutation_p.E162K|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.E162K|TRMT2A_uc011ahk.1_Missense_Mutation_p.E162K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 162 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 ACTGGTGGCTCACTCTCACCC 0.647 NaN 0 0 0 0.002522 0 46 51 ZNRF3 84133 broad.mit.edu 37 22 29445244 29445244 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:29445244C>G uc003aeg.2 + 8 940 c.775C>G c.(775-777)CAG>GAG p.Q259E ZNRF3_uc003aeh.1_Missense_Mutation_p.Q259E NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 359 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 ACGTGGTCGGCAGCAGAGGGT 0.612 NaN 0 0 0 0.004878 0 38 124 SLC35E4 339665 broad.mit.edu 37 22 31042720 31042720 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:31042720C>G uc003ais.1 + 2 1400 c.755C>G c.(754-756)TCT>TGT p.S252C SLC35E4_uc003ait.2_Intron NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 252 Leu-rich. integral to membrane 0 GCTGGCGACTCTCGCCTCTGG 0.667 NaN 0 0 0 0.001368 0 12 47 PLA2G6 8398 broad.mit.edu 37 22 38536057 38536057 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:38536057A>T uc003auy.1 - 5 865 c.729T>A c.(727-729)AAT>AAA p.N243K PLA2G6_uc003auz.1_Missense_Mutation_p.N243K|PLA2G6_uc003ava.1_Missense_Mutation_p.N243K|PLA2G6_uc003avb.2_Missense_Mutation_p.N243K|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Intron NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 243 ANK 3. cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) TGCACCGAGCATTGCACAGCA 0.627 NaN 0 0 0 0.000978 0 11 46 TTLL12 23170 broad.mit.edu 37 22 43570554 43570554 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr22:43570554C>T uc003bdq.2 - 7 1017 c.985G>A c.(985-987)GAG>AAG p.E329K TTLL12_uc003bdr.1_Missense_Mutation_p.E329K NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 329 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) GCGTCCGCCTCACTCTGGGTG 0.657 NaN 0 0 0 0.003271 0 32 105 CHL1 10752 broad.mit.edu 37 3 367669 367669 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:367669A>T uc003bou.2 + 4 390 c.119A>T c.(118-120)CAG>CTG p.Q40L CHL1_uc003bot.2_Missense_Mutation_p.Q40L|CHL1_uc003bow.1_Missense_Mutation_p.Q40L|CHL1_uc011asi.1_Missense_Mutation_p.Q40L NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 40 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATCATAAAACAGTCAAAAGTC 0.338 NaN 0 0 0 0.000978 0 12 39 LRRN1 57633 broad.mit.edu 37 3 3886380 3886380 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:3886380A>T uc003bpt.3 + 2 816 c.55A>T c.(55-57)ATG>TTG p.M19L SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 19 integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) GGGCCTACTAATGACTTCATT 0.458 NaN 0 0 0 0.008361 0 31 63 LRRN1 57633 broad.mit.edu 37 3 3886395 3886395 + Missense_Mutation SNP G G A rs140162397 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:3886395G>A uc003bpt.3 + 2 831 c.70G>A c.(70-72)GAG>AAG p.E24K SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 24 integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TTCATTAACCGAGTCTTCCAT 0.473 NaN 0 0 0 0.004289 0 37 69 NR1D2 9975 broad.mit.edu 37 3 24018855 24018855 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:24018855G>T uc003ccs.2 + 8 2004 c.1685G>T c.(1684-1686)CGA>CTA p.R562L NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R487L NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 562 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 CCAGATCTTCGATCTTTAAAC 0.373 NaN 1 0 9.55421e-19 0.00361 1.25722e-18 47 108 SCN11A 11280 broad.mit.edu 37 3 38962614 38962614 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:38962614T>G uc011ays.1 - 6 1044 c.845A>C c.(844-846)AAA>ACA p.K282T NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 282 I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGAGATGCATTTCAGGTTCAG 0.443 NaN 0 0 0 0.00361 0 107 174 COL7A1 1294 broad.mit.edu 37 3 48618755 48618755 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:48618755C>T uc003ctz.2 - 51 4838 c.4837G>A c.(4837-4839)GGA>AGA p.G1613R MIR711_hsa-mir-711|MI0012488_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1613 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) CCCTTCTCTCCAGGAGGCCCT 0.652 NaN 0 0 0 0.00499 0 16 31 SPATA12 353324 broad.mit.edu 37 3 57107939 57107939 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:57107939C>T uc003dij.1 + 2 892 c.217C>T c.(217-219)CAG>TAG p.Q73* ARHGEF3_uc003dih.2_Intron NM_181727 NP_859078 Q7Z6I5 SPT12_HUMAN spermatogenesis associated 12 73 0 KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129) GCTGACATTTCAGGGGGATGT 0.532 NaN 0 0 0 0.001786 0 32 43 ABHD6 57406 broad.mit.edu 37 3 58255096 58255096 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:58255096G>A uc003djs.3 + 4 735 c.325G>A c.(325-327)GAG>AAG p.E109K ABHD6_uc003djr.2_Missense_Mutation_p.E109K|ABHD6_uc003djt.3_Missense_Mutation_p.E109K NM_020676 NP_065727 Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 109 Cytoplasmic (Potential). integral to membrane acylglycerol lipase activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) GCCAGGACATGAGGGCACCAC 0.532 NaN 0 0 0 0.007413 0 13 31 C3orf67 200844 broad.mit.edu 37 3 58856020 58856020 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:58856020C>T uc003dkt.1 - 8 765 c.356G>A c.(355-357)AGA>AAA p.R119K C3orf67_uc003dks.1_5'Flank|uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_Missense_Mutation_p.R27K NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 119 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) ACTTGTTCCTCTGTTAATGAA 0.378 NaN 0 0 0 0.008871 0 20 25 OR5AC2 81050 broad.mit.edu 37 3 97806060 97806060 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:97806060T>G uc011bgs.1 + 1 44 c.44T>G c.(43-45)GTT>GGT p.V15G NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACAGAGTTTGTTCTCACAGGA 0.403 NaN 0 0 0 0.00361 0 62 149 TOMM70A 9868 broad.mit.edu 37 3 100103344 100103344 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:100103344C>T uc003dtw.2 - 4 1146 c.714G>A c.(712-714)GAG>GAA p.E238E NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 238 Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 CTTTGGCTTTCTCTTTTCCAA 0.363 NaN 0 0 0 0.003271 0 33 86 IMPG2 50939 broad.mit.edu 37 3 100961559 100961559 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:100961559C>T uc003duq.1 - 14 3198 c.2995G>A c.(2995-2997)GAT>AAT p.D999N IMPG2_uc011bhe.1_Missense_Mutation_p.D862N NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 999 Extracellular (Potential).|SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GAGTATTTATCAATAGCCAAG 0.398 NaN 0 0 0 0.002836 0 32 69 ABHD10 55347 broad.mit.edu 37 3 111697910 111697910 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:111697910T>G uc003dyk.3 + 1 83 c.2T>G c.(1-3)ATG>AGG p.M1R ABHD10_uc011bhq.1_5'UTR NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 1 mitochondrion serine-type peptidase activity 0 ACTACGAAGATGGCGGTTGCG 0.672 NaN 0 0 0 0.003163 0 12 49 PARP14 54625 broad.mit.edu 37 3 122437771 122437771 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:122437771C>T uc003efq.3 + 14 4832 c.4773C>T c.(4771-4773)CAC>CAT p.H1591H PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.H1308H|PARP14_uc003efs.1_Silent_p.H1308H NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1591 WWE. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CAAAGGGCCACAGTTTATCTG 0.393 NaN 0 0 0 0.00308 0 8 38 MYLK 4638 broad.mit.edu 37 3 123367843 123367843 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:123367843A>T uc003ego.2 - 26 4672 c.4390T>A c.(4390-4392)TAC>AAC p.Y1464N MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.Y264N|MYLK_uc011bjw.1_Missense_Mutation_p.Y1464N|MYLK_uc003egp.2_Missense_Mutation_p.Y1395N|MYLK_uc003egq.2_Missense_Mutation_p.Y1464N|MYLK_uc003egr.2_Missense_Mutation_p.Y1395N|MYLK_uc003egs.2_Missense_Mutation_p.Y1288N NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1464 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAATGTCGTAGAAGTCAGAT 0.517 NaN 0 0 0 0.007291 0 28 114 PPP2R3A 5523 broad.mit.edu 37 3 135721464 135721464 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:135721464A>T uc003eqv.1 + 2 1689 c.1124A>T c.(1123-1125)AAT>ATT p.N375I PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 375 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 AACTCCACAAATTCCTTATAT 0.363 NaN 0 0 0 0.00333 0 25 67 TXNDC6 347736 broad.mit.edu 37 3 138024902 138024902 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:138024902C>G uc003esg.2 - 8 608 c.580G>C c.(580-582)GAG>CAG p.E194Q TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E109Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E133Q NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 194 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 ATGGTTCTCTCTTCATTTGTT 0.373 NaN 0 0 0 0.002522 0 40 129 TRIM42 287015 broad.mit.edu 37 3 140397361 140397361 + Missense_Mutation SNP G G A rs144112519 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:140397361G>A uc003eto.1 + 1 481 c.290G>A c.(289-291)CGC>CAC p.R97H NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 97 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CGCTGCTGCCGCAATACCATC 0.542 NaN 0 0 0 0.00278 0 22 41 XRN1 54464 broad.mit.edu 37 3 142140317 142140317 + Splice_Site SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:142140317C>T uc003eus.2 - 9 1102 c.1035_splice c.e9+1 p.D345_splice XRN1_uc003eut.2_Splice_Site_p.D345_splice|XRN1_uc003euu.2_Splice_Site_p.D345_splice|XRN1_uc003euv.1_Splice_Site_p.D206_splice|XRN1_uc003euw.2_Splice_Site_p.D345_splice|XRN1_uc011bnh.1_Splice_Site_p.D135_splice NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TAGTTACTTACATCTGATAGT 0.318 NaN 0 0 0 0.001984 0 6 40 PLOD2 5352 broad.mit.edu 37 3 145796998 145796998 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:145796998C>T uc003evs.1 - 13 1911 c.1405G>A c.(1405-1407)GGA>AGA p.G469R PLOD2_uc003evq.1_Missense_Mutation_p.G129R|PLOD2_uc011bnm.1_Missense_Mutation_p.G414R|PLOD2_uc003evr.1_Missense_Mutation_p.G469R NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 469 protein modification process|response to hypoxia 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 Vitamin C(DB00126) AGTGTCTTTCCTTTAATTAAG 0.348 NaN 0 0 0 0.005443 0 29 53 HPS3 84343 broad.mit.edu 37 3 148863304 148863304 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:148863304C>T uc003ewu.1 + 5 1274 c.1134C>T c.(1132-1134)CTC>CTT p.L378L HPS3_uc003ewt.1_Silent_p.L378L|HPS3_uc011bnq.1_Silent_p.L213L NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 378 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGGCAGTACTCACGCCACAAT 0.413 NaN Hermansky-Pudlak_syndrome 0 0 0 0.00361 0 50 107 MED12L 116931 broad.mit.edu 37 3 151102873 151102873 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:151102873C>T uc003eyp.2 + 34 4915 c.4877C>T c.(4876-4878)CCT>CTT p.P1626L MED12L_uc011bnz.1_Missense_Mutation_p.P1486L|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.P789L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1626 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGTTACTACCTTTGCCGAAA 0.388 NaN 0 0 0 0.00361 0 52 161 SGEF 26084 broad.mit.edu 37 3 153847391 153847391 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:153847391G>A uc011bog.1 + 4 1363 c.1152G>A c.(1150-1152)AAG>AAA p.K384K SGEF_uc011boh.1_Silent_p.K384K NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 384 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAAACTACAAGGAAAAGGCCC 0.363 NaN 0 0 0 0.00308 0 7 16 SLITRK3 22865 broad.mit.edu 37 3 164907052 164907052 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:164907052C>G uc003fej.3 - 2 2011 c.1567G>C c.(1567-1569)GCC>CCC p.A523P SLITRK3_uc003fek.2_Missense_Mutation_p.A523P NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 523 LRR 11.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCAGCAAAGGCGTCTGTTGGC 0.522 NaN HNSCC(40;0.11) 0 0 0 0.007413 0 19 52 CCDC39 339829 broad.mit.edu 37 3 180372711 180372711 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:180372711C>G uc010hxe.2 - 7 884 c.769G>C c.(769-771)GAA>CAA p.E257Q CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 257 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTTTCTTTTTCTCTCGTTTCC 0.294 NaN 0 0 0 0.00308 0 8 30 CCDC39 339829 broad.mit.edu 37 3 180397161 180397161 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:180397161C>A uc010hxe.2 - 1 123 c.8G>T c.(7-9)AGC>ATC p.S3I CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 3 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CAGGAATTCGCTACTCATGAC 0.552 NaN 1 0 2.10328e-26 0.00361 2.81522e-26 73 194 CCDC50 152137 broad.mit.edu 37 3 191098675 191098675 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:191098675G>A uc003fsw.2 + 8 1258 c.668G>A c.(667-669)CGG>CAG p.R223Q CCDC50_uc003fsv.2_Missense_Mutation_p.R399Q NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 223 Lys-rich. 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) GCCAAGGAGCGGGAGAAATCA 0.368 NaN 0 0 0 0.001855 0 12 20 FYTTD1 84248 broad.mit.edu 37 3 197476889 197476889 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:197476889C>T uc003fyi.2 + 1 266 c.47C>T c.(46-48)TCG>TTG p.S16L KIAA0226_uc003fyd.3_5'Flank|KIAA0226_uc003fyf.2_5'Flank|FYTTD1_uc011bui.1_Intron|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'Flank NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 16 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) GCGACTTCTTCGCCGCCGCCG 0.652 NaN 0 0 0 0.004656 0 21 19 MFSD7 84179 broad.mit.edu 37 4 682809 682809 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:682809G>A uc003gay.2 - 1 165 c.108C>T c.(106-108)ATC>ATT p.I36I MFSD7_uc003gax.2_Silent_p.I36I|MFSD7_uc003gaz.2_Silent_p.I36I|MFSD7_uc003gba.2_Silent_p.I36I|MFSD7_uc003gbb.1_5'Flank NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 36 Helical; (Potential). transmembrane transport integral to membrane 0 TGAGCAGGCTGATCGCGAGCA 0.721 NaN 0 0 0 0.00245 0 13 19 WHSC1 7468 broad.mit.edu 37 4 1957573 1957573 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:1957573A>G uc003gdz.3 + 14 2848 c.2672A>G c.(2671-2673)TAC>TGC p.Y891C WHSC1_uc003geb.3_Missense_Mutation_p.Y891C|WHSC1_uc003gec.3_Missense_Mutation_p.Y891C|WHSC1_uc003ged.3_Missense_Mutation_p.Y891C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.Y110C|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.Y239C NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 891 PWWP 2. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CTTGGGAACTACAGGTGTGAG 0.433 NaN T IGH@ MM 0 0 0 0.008361 0 30 47 DOK7 285489 broad.mit.edu 37 4 3475151 3475151 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:3475151T>C uc003ghd.2 + 3 189 c.119T>C c.(118-120)GTC>GCC p.V40A DOK7_uc003ghe.2_5'UTR NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 40 PH. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGATGCTGGTCTACAAGGAC 0.687 NaN 0 0 0 0.004007 0 16 94 LDB2 9079 broad.mit.edu 37 4 16597444 16597444 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:16597444A>C uc003goz.2 - 3 606 c.290T>G c.(289-291)GTG>GGG p.V97G LDB2_uc003gpa.2_Missense_Mutation_p.V97G|LDB2_uc003gpb.2_Missense_Mutation_p.V97G|LDB2_uc011bxh.1_Missense_Mutation_p.V97G|LDB2_uc010iee.2_Missense_Mutation_p.V97G|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 97 LIM domain binding|transcription cofactor activity 0 CAGGTCGGTCACCCCTCCTTC 0.493 NaN 0 0 0 0.004482 0 5 63 PDS5A 23244 broad.mit.edu 37 4 39850583 39850583 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:39850583T>C uc003guv.3 - 28 3767 c.3227A>G c.(3226-3228)TAT>TGT p.Y1076C PDS5A_uc010ifo.2_Missense_Mutation_p.Y1036C NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 1076 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 ACATACTGTATACAGTTTCTA 0.313 NaN 0 0 0 0.001168 0 6 25 GNPDA2 132789 broad.mit.edu 37 4 44709782 44709782 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:44709782C>T uc003gwy.2 - 6 913 c.756G>A c.(754-756)GTG>GTA p.V252V GNPDA2_uc010iga.2_Silent_p.V218V|GNPDA2_uc011bzb.1_Silent_p.V182V|GNPDA2_uc003gwz.1_Silent_p.V252V NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 252 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 TAAAGTATTTCACAGTTTTAA 0.388 NaN 0 0 0 0.001368 0 10 21 FRYL 285527 broad.mit.edu 37 4 48578237 48578237 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:48578237C>T uc003gyh.1 - 24 3136 c.2531G>A c.(2530-2532)AGC>AAC p.S844N FRYL_uc003gyk.2_Missense_Mutation_p.S844N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 844 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 ATTGATGGGGCTACTAAGGAA 0.323 NaN 0 0 0 0.00278 0 20 65 AASDH 132949 broad.mit.edu 37 4 57215543 57215543 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:57215543G>T uc003hbn.2 - 11 2527 c.2374C>A c.(2374-2376)CAT>AAT p.H792N AASDH_uc010ihb.2_Missense_Mutation_p.H307N|AASDH_uc011caa.1_Missense_Mutation_p.H639N|AASDH_uc003hbo.2_Missense_Mutation_p.H692N|AASDH_uc011cab.1_Missense_Mutation_p.H307N|AASDH_uc010ihc.2_Missense_Mutation_p.H792N|AASDH_uc003hbp.2_Missense_Mutation_p.H792N NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 792 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TTCATTCTATGAGAATGGGAA 0.418 NaN 1 0 1.88708e-17 0.008361 2.45826e-17 31 112 YTHDC1 91746 broad.mit.edu 37 4 69196015 69196015 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:69196015G>A uc003hdx.2 - 8 1489 c.1136C>T c.(1135-1137)ACG>ATG p.T379M YTHDC1_uc003hdy.2_Missense_Mutation_p.T361M NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 379 YTH. upper_aerodigestive_tract(1)|ovary(1) 2 TACAGGGAGCGTGGACCATAC 0.318 NaN 0 0 0 0.003163 0 13 26 AMBN 258 broad.mit.edu 37 4 71459051 71459051 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:71459051T>C uc003hfl.2 + 2 98 c.23T>C c.(22-24)CTT>CCT p.L8P NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 8 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) TAGATTCCACTTTTCAAAATG 0.353 NaN 0 0 0 0.001855 0 12 83 AMBN 258 broad.mit.edu 37 4 71459067 71459067 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:71459067C>T uc003hfl.2 + 2 114 c.39C>T c.(37-39)GAC>GAT p.D13D NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 13 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) AAATGAAGGACCTGATACTGA 0.343 NaN 0 0 0 0.001523 0 17 98 FRAS1 80144 broad.mit.edu 37 4 79367924 79367924 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:79367924G>A uc003hlb.2 + 43 6340 c.5900G>A c.(5899-5901)AGA>AAA p.R1967K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1966 CSPG 8.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CAGCCCCTCAGAGTGCAGCTG 0.433 NaN 0 0 0 0.001855 0 13 25 PRDM8 56978 broad.mit.edu 37 4 81123531 81123531 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:81123531C>T uc010ijo.2 + 8 1754 c.915C>T c.(913-915)ATC>ATT p.I305I PRDM8_uc003hmb.3_Silent_p.I305I|PRDM8_uc003hmc.3_Silent_p.I305I NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 305 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCGACGGCATCGCCACGGGCG 0.607 NaN OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 8 17 HNRNPD 3184 broad.mit.edu 37 4 83280703 83280703 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:83280703G>A uc003hmm.1 - 3 698 c.380C>T c.(379-381)ACT>ATT p.T127I HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Missense_Mutation_p.T108I|HNRNPD_uc003hmo.1_Missense_Mutation_p.T127I|HNRNPD_uc003hmp.1_Missense_Mutation_p.T108I|HNRNPD_uc010ijr.1_Missense_Mutation_p.T108I|HNRNPD_uc011cci.1_Intron NM_031370 NP_112738 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D 127 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding 0 TAACTTCAGAGTGCAGTCTAC 0.408 NaN 0 0 0 0.00632 0 28 84 SEC31A 22872 broad.mit.edu 37 4 83778203 83778203 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:83778203T>C uc003hnf.2 - 16 1947 c.1783A>G c.(1783-1785)ATG>GTG p.M595V SEC31A_uc003hne.2_Missense_Mutation_p.M328V|SEC31A_uc011ccl.1_Missense_Mutation_p.M556V|SEC31A_uc003hnl.2_Missense_Mutation_p.M556V|SEC31A_uc003hng.2_Missense_Mutation_p.M595V|SEC31A_uc003hnh.2_Missense_Mutation_p.M595V|SEC31A_uc003hni.2_Missense_Mutation_p.M595V|SEC31A_uc003hnj.2_Missense_Mutation_p.M556V|SEC31A_uc011ccm.1_Missense_Mutation_p.M590V|SEC31A_uc011ccn.1_Missense_Mutation_p.M595V|SEC31A_uc003hnk.2_Missense_Mutation_p.M556V|SEC31A_uc003hnm.2_Missense_Mutation_p.M595V|SEC31A_uc003hnn.1_Missense_Mutation_p.M595V NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 595 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GCATCGGCCATGCGGTTATCA 0.418 NaN 0 0 0 0.001882 0 23 61 HELQ 113510 broad.mit.edu 37 4 84364763 84364763 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:84364763C>T uc003hom.2 - 6 1649 c.1470G>A c.(1468-1470)ACG>ACA p.T490T HELQ_uc010ikb.2_Silent_p.T423T|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_Intron NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 490 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 TAATTTGAGTCGTTTCTAAAA 0.289 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.00245 0 15 30 WDFY3 23001 broad.mit.edu 37 4 85687004 85687004 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:85687004T>A uc003hpd.2 - 32 5555 c.5147A>T c.(5146-5148)CAG>CTG p.Q1716L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1716 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGAATCTGTCTGTTCAAGCCA 0.378 NaN 0 0 0 0.002299 0 22 79 SLC10A6 345274 broad.mit.edu 37 4 87770173 87770173 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:87770173G>A uc003hqd.2 - 1 244 c.96C>T c.(94-96)CTC>CTT p.L32L NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 32 Helical; (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) CTGTGAAAACGAGCTCCAGGT 0.562 NaN 0 0 0 0.00278 0 24 61 PPP3CA 5530 broad.mit.edu 37 4 102267947 102267947 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:102267947C>T uc011cen.1 - 1 682 c.7G>A c.(7-9)GAG>AAG p.E3K PPP3CA_uc003hvu.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilj.2_Missense_Mutation_p.E3K|PPP3CA_uc003hvt.2_5'UTR|PPP3CA_uc003hvs.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilk.2_Missense_Mutation_p.E3K|uc003hvw.2_5'Flank NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 3 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GCCTTGGGCTCGGACATCTCC 0.637 NaN 0 0 0 0.008291 0 10 33 CENPE 1062 broad.mit.edu 37 4 104066984 104066984 + Splice_Site SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:104066984A>T uc003hxb.1 - 30 4503 c.4413_splice c.e30+1 p.K1471_splice CENPE_uc003hxc.1_Splice_Site_p.K1446_splice NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GATGAAACCTACTTTAGCTAC 0.308 NaN 0 0 0 0.006122 0 19 51 PITX2 5308 broad.mit.edu 37 4 111539518 111539518 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:111539518G>A uc003iad.2 - 5 1299 c.717C>T c.(715-717)CTC>CTT p.L239L PITX2_uc003iac.2_Silent_p.L246L|PITX2_uc003iae.2_Silent_p.L193L|PITX2_uc010iml.2_Silent_p.L110L|PITX2_uc003iaf.2_Silent_p.L239L NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 239 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) TCAGGCTGTTGAGACTGGAGC 0.582 NaN 0 0 0 0.00333 0 24 65 PRDM5 11107 broad.mit.edu 37 4 121843681 121843681 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:121843681C>T uc003idn.2 - 1 333 c.83G>A c.(82-84)AGA>AAA p.R28K PRDM5_uc003ido.2_Missense_Mutation_p.R28K|PRDM5_uc010ine.2_Missense_Mutation_p.R28K|PRDM5_uc010inf.2_Missense_Mutation_p.R28K|PRDM5_uc003idp.1_Missense_Mutation_p.R28K NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 28 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 CTTTCGCACTCTGCGGGCCGT 0.672 NaN 0 0 0 0.003163 0 11 32 QRFPR 84109 broad.mit.edu 37 4 122250851 122250851 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:122250851T>A uc010inj.1 - 6 1293 c.914A>T c.(913-915)TAT>TTT p.Y305F QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 305 Extracellular (Potential). plasma membrane neuropeptide Y receptor activity 0 GACATCATCATATTCCTTTTC 0.289 NaN 0 0 0 0.00308 0 8 10 FAT4 79633 broad.mit.edu 37 4 126370445 126370445 + Missense_Mutation SNP A A C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:126370445A>C uc003ifj.3 + 9 8274 c.8274A>C c.(8272-8274)AAA>AAC p.K2758N FAT4_uc011cgp.1_Missense_Mutation_p.K1056N|FAT4_uc003ifi.1_Missense_Mutation_p.K236N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2758 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTTCAGTAAAAGTCATGATTA 0.378 NaN 0 0 0 0.00632 0 29 109 HSPA4L 22824 broad.mit.edu 37 4 128751844 128751844 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:128751844T>C uc003ifm.2 + 18 2471 c.2218T>C c.(2218-2220)TGT>CGT p.C740R HSPA4L_uc011cgr.1_Missense_Mutation_p.C707R NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 740 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GGTTGAAAAATGTATCAGTGA 0.343 NaN 0 0 0 0.007413 0 18 32 ABCE1 6059 broad.mit.edu 37 4 146046206 146046206 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:146046206G>A uc003ijx.2 + 17 2145 c.1705G>A c.(1705-1707)GAT>AAT p.D569N ABCE1_uc003ijy.2_Missense_Mutation_p.D569N|ABCE1_uc010iot.2_RNA NM_001040876 NP_001035809 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E, member 1 569 interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity skin(1) 1 all_hematologic(180;0.151) ATTCAGAAGAGATCCAAACAA 0.294 NaN 0 0 0 0.001882 0 16 83 LRBA 987 broad.mit.edu 37 4 151223937 151223937 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:151223937C>T uc010ipj.2 - 54 8364 c.7890G>A c.(7888-7890)TTG>TTA p.L2630L LRBA_uc010ipi.2_Silent_p.L152L|LRBA_uc003ils.3_Silent_p.L525L|LRBA_uc003ilt.3_Silent_p.L1278L|LRBA_uc003ilu.3_Silent_p.L2619L|LRBA_uc003ilr.3_Silent_p.L50L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2630 WD 2. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CCACTTGGATCAATCTTCCTG 0.363 NaN 0 0 0 0.007413 0 18 70 FBXW7 55294 broad.mit.edu 37 4 153250906 153250906 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:153250906G>T uc003ims.2 - 8 1303 c.1154C>A c.(1153-1155)ACA>AAA p.T385K FBXW7_uc011cii.1_Missense_Mutation_p.T385K|FBXW7_uc003imt.2_Missense_Mutation_p.T385K|FBXW7_uc011cih.1_Missense_Mutation_p.T209K|FBXW7_uc003imq.2_Missense_Mutation_p.T305K|FBXW7_uc003imr.2_Missense_Mutation_p.T267K NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 385 WD 1. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTGTAAGCATGTGATCACATG 0.343 NaN Mis|N|D|F colorectal|endometrial|T-ALL 1 0 2.37509e-13 0.001523 3.05818e-13 20 92 TRIM2 23321 broad.mit.edu 37 4 154243942 154243942 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:154243942G>A uc003ing.2 + 9 2045 c.1844G>A c.(1843-1845)CGA>CAA p.R615Q TRIM2_uc003inh.2_Missense_Mutation_p.R642Q NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 615 NHL 4. cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) TTTGGTAGCCGAGGAAATGGG 0.473 NaN 0 0 0 0.002299 0 22 47 TRIM2 23321 broad.mit.edu 37 4 154243969 154243969 + Splice_Site SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:154243969G>A uc003ing.2 + 9 2071 c.1870_splice c.e9+1 p.G624_splice TRIM2_uc003inh.2_Splice_Site_p.G651_splice NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CAGTTTGCAGGTACACTCGAT 0.473 NaN 0 0 0 0.005443 0 25 35 RBM46 166863 broad.mit.edu 37 4 155749131 155749131 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:155749131G>A uc003ioo.2 + 5 1687 c.1514G>A c.(1513-1515)GGC>GAC p.G505D RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 505 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) TCTTATCCAGGCTATCCTTTG 0.453 NaN 0 0 0 0.00361 0 59 176 NPY5R 4889 broad.mit.edu 37 4 164272420 164272420 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:164272420G>A uc003iqn.2 + 4 1177 c.995G>A c.(994-996)GGG>GAG p.G332E NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 332 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) TTCATACCAGGGGTCCCCACT 0.398 NaN 0 0 0 0.00245 0 12 58 PALLD 23022 broad.mit.edu 37 4 169819719 169819719 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:169819719G>A uc011cjx.1 + 14 2537 c.2326G>A c.(2326-2328)GAA>AAA p.E776K CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.E759K|PALLD_uc003irv.2_Missense_Mutation_p.E377K|PALLD_uc003irw.2_Missense_Mutation_p.E261K|PALLD_uc003irx.2_5'UTR NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 983 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TCCTGTGGATGAATCAGGTGA 0.408 NaN Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.000978 0 12 57 UFSP2 55325 broad.mit.edu 37 4 186324770 186324770 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:186324770C>T uc003ixo.2 - 11 1318 c.1201G>A c.(1201-1203)GGA>AGA p.G401R UFSP2_uc003ixn.2_Missense_Mutation_p.G276R|UFSP2_uc003ixq.2_Missense_Mutation_p.G291R|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 401 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) AAAACTCCTCCCCCTATAGAA 0.338 NaN 0 0 0 0.007413 0 19 63 FASTKD3 79072 broad.mit.edu 37 5 7867567 7867567 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:7867567T>C uc003jeb.2 - 2 767 c.630A>G c.(628-630)AAA>AAG p.K210K FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 210 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 CCATGCCACCTTTTCTGAGAC 0.433 NaN 0 0 0 0.002522 0 45 96 PDZD2 23037 broad.mit.edu 37 5 32059441 32059441 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:32059441C>A uc003jhl.2 + 13 2685 c.2297C>A c.(2296-2298)GCC>GAC p.A766D PDZD2_uc003jhm.2_Missense_Mutation_p.A766D|PDZD2_uc011cnx.1_Missense_Mutation_p.A592D NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 766 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGATCAGTGGCCAAGATGGAG 0.448 NaN 1 0 6.49762e-13 0.006122 8.3114e-13 17 43 RAI14 26064 broad.mit.edu 37 5 34821857 34821857 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:34821857A>G uc003jir.2 + 14 1211 c.1015A>G c.(1015-1017)ATA>GTA p.I339V RAI14_uc010iur.2_Missense_Mutation_p.I310V|RAI14_uc011coj.1_Missense_Mutation_p.I339V|RAI14_uc010ius.1_Missense_Mutation_p.I268V|RAI14_uc003jis.2_Missense_Mutation_p.I342V|RAI14_uc003jit.2_Missense_Mutation_p.I339V|RAI14_uc011cok.1_Missense_Mutation_p.I331V NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 339 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CTTATTGGATATAAGTTCTGA 0.348 NaN 0 0 0 0.00278 0 22 97 NIPBL 25836 broad.mit.edu 37 5 37059268 37059268 + Splice_Site SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:37059268G>A uc003jkl.3 + 44 8184 c.7685_splice c.e44+1 p.S2562_splice NIPBL_uc003jkk.3_Splice_Site_p.S2562_splice|NIPBL_uc003jkn.2_Splice_Site_p.S255_splice NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTCTGATAGGTAAGGTTACA 0.244 NaN 0 0 0 0.00499 0 18 77 C9 735 broad.mit.edu 37 5 39341658 39341658 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:39341658C>T uc003jlv.3 - 3 417 c.328G>A c.(328-330)GGC>AGC p.G110S NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 110 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CAAAGATTACCTGTACTGCAT 0.463 NaN 0 0 0 0.00278 0 20 86 HEATR7B2 133558 broad.mit.edu 37 5 41009477 41009477 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:41009477C>T uc003jmj.3 - 32 3815 c.3325G>A c.(3325-3327)GAA>AAA p.E1109K HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1109 binding ovary(6)|central_nervous_system(2) 8 GCTGGCTTTTCAGCCAGCGCC 0.498 NaN 0 0 0 0.00361 0 49 121 PARP8 79668 broad.mit.edu 37 5 50090057 50090057 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:50090057G>A uc003jon.3 + 12 936 c.754G>A c.(754-756)GTT>ATT p.V252I PARP8_uc011cpz.1_Missense_Mutation_p.V144I|PARP8_uc003joo.2_Missense_Mutation_p.V252I|PARP8_uc003jop.2_Missense_Mutation_p.V252I NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 252 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) GCAGACATTTGTTACACAGCA 0.343 NaN 0 0 0 0.001855 0 13 48 CDC20B 166979 broad.mit.edu 37 5 54436170 54436170 + Silent SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:54436170G>C uc003jpo.1 - 5 727 c.552C>G c.(550-552)CTC>CTG p.L184L CDC20B_uc003jpn.1_Silent_p.L184L|CDC20B_uc010ivu.1_Silent_p.L184L|CDC20B_uc010ivv.1_Silent_p.L184L|CDC20B_uc003jpp.2_RNA NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 184 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) ATTGCTCACAGAGCTGCATTT 0.408 NaN 0 0 0 0.008871 0 18 38 ARSB 411 broad.mit.edu 37 5 78280775 78280775 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:78280775G>A uc003kfq.2 - 1 1583 c.297C>T c.(295-297)CTC>CTT p.L99L ARSB_uc003kfr.3_Silent_p.L99L NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 99 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) AGCGGCCAGTGAGCAGCTGGC 0.512 NaN 0 0 0 0.000602 0 5 10 ZFYVE16 9765 broad.mit.edu 37 5 79733327 79733327 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:79733327G>T uc003kgr.3 + 4 1125 c.823G>T c.(823-825)GTT>TTT p.V275F ZFYVE16_uc010jak.1_Missense_Mutation_p.V275F|ZFYVE16_uc003kgp.2_Missense_Mutation_p.V275F|ZFYVE16_uc003kgq.3_Missense_Mutation_p.V275F|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V275F NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 275 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) ACTAAAAGATGTTGGCTTAGT 0.418 NaN 1 0 6.00712e-18 0.002445 7.83844e-18 32 82 GPR98 84059 broad.mit.edu 37 5 90086879 90086879 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:90086879C>A uc003kju.2 + 70 14329 c.14233C>A c.(14233-14235)CTG>ATG p.L4745M GPR98_uc003kjt.2_Missense_Mutation_p.L2451M|GPR98_uc003kjw.2_Missense_Mutation_p.L406M NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4745 Extracellular (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) CGAACTGGATCTGGAGAAGAG 0.443 NaN 1 0 3.08376e-08 0.00333 3.83134e-08 25 58 MCTP1 79772 broad.mit.edu 37 5 94245027 94245027 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:94245027T>C uc003kkx.2 - 10 1581 c.1581A>G c.(1579-1581)GAA>GAG p.E527E MCTP1_uc003kkv.2_Silent_p.E306E|MCTP1_uc003kkw.2_Silent_p.E260E|MCTP1_uc003kkz.2_Silent_p.E188E|MCTP1_uc003kku.2_Silent_p.E43E NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 527 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTCCTCTTTCTTCATAAAGGT 0.368 NaN 0 0 0 0.006122 0 19 70 CHD1 1105 broad.mit.edu 37 5 98240643 98240643 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:98240643T>G uc003knf.2 - 2 361 c.213A>C c.(211-213)GAA>GAC p.E71D NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 71 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GAACTTTGTTTTCTCGGGAAG 0.433 NaN 0 0 0 0.00361 0 65 98 SLC25A46 91137 broad.mit.edu 37 5 110097170 110097170 + Silent SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:110097170A>T uc003koz.2 + 8 1012 c.945A>T c.(943-945)CCA>CCT p.P315P SLC25A46_uc011cvi.1_Silent_p.P224P NM_138773 NP_620128 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 315 Solcar 2.|Helical; Name=5; (Potential). transport integral to membrane|mitochondrial inner membrane 0 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) CTTATTTTCCAGAACTTATTG 0.413 NaN 0 0 0 0.00361 0 86 215 EPB41L4A 64097 broad.mit.edu 37 5 111506035 111506035 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:111506035C>T uc003kpv.1 - 20 1976 c.1702G>A c.(1702-1704)GAA>AAA p.E568K EPB41L4A_uc003kpp.1_Missense_Mutation_p.E195K|EPB41L4A_uc003kpu.1_5'Flank NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 568 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AATTGTTCTTCGGACAATCCG 0.363 NaN 0 0 0 0.001855 0 11 37 YTHDC2 64848 broad.mit.edu 37 5 112903525 112903525 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:112903525C>T uc003kqn.2 + 23 3406 c.3223C>T c.(3223-3225)CAG>TAG p.Q1075* NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1075 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TAATGCTCTTCAGGAACCTTC 0.318 NaN 0 0 0 0.00361 0 40 79 ACSL6 23305 broad.mit.edu 37 5 131310491 131310491 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:131310491G>T uc010jdo.1 - 11 1036 c.953C>A c.(952-954)TCC>TAC p.S318Y ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.S343Y|ACSL6_uc003kvy.1_Intron|ACSL6_uc003kwb.2_Missense_Mutation_p.S308Y|ACSL6_uc003kvz.1_Intron|ACSL6_uc003kwa.1_Intron|ACSL6_uc003kvw.1_5'Flank|ACSL6_uc010jdn.1_Intron|ACSL6_uc010jdp.1_Intron NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 318 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCAAATAGGAAATGTGCAC 0.542 NaN 1 0 0.00621372 0.006214 0.00750463 10 23 SLC22A4 6583 broad.mit.edu 37 5 131630518 131630518 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:131630518G>A uc003kwq.2 + 1 374 c.209G>A c.(208-210)CGG>CAG p.R70Q uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 70 Extracellular (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTCCCGCTGCGGCTGCGGGAC 0.726 NaN 0 0 0 0.001368 0 13 21 GDF9 2661 broad.mit.edu 37 5 132197956 132197956 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:132197956A>G uc003kxz.1 - 2 942 c.690T>C c.(688-690)AGT>AGC p.S230S GDF9_uc011cxj.1_Silent_p.S142S NM_005260 NP_005251 O60383 GDF9_HUMAN growth differentiation factor 9 precursor 230 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity skin(1) 1 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACATGTGAATACTTCTCTTGT 0.408 NaN 0 0 0 0.008361 0 31 62 AFF4 27125 broad.mit.edu 37 5 132223808 132223808 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:132223808T>A uc003kyd.2 - 15 3185 c.2777A>T c.(2776-2778)AAG>ATG p.K926M AFF4_uc011cxk.1_Missense_Mutation_p.K604M NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 926 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCATTGTGCTTTAGCTTTTT 0.274 NaN 0 0 0 0.00245 0 14 36 C5orf15 56951 broad.mit.edu 37 5 133295523 133295523 + Missense_Mutation SNP G G A rs11540542 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:133295523G>A uc003kyo.2 - 2 459 c.328C>T c.(328-330)CCT>TCT p.P110S NM_020199 NP_064584 Q8NC54 KCT2_HUMAN keratinocytes associated transmembrane protein 2 110 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TGAGACAGAGGAGTAGGCGAG 0.493 NaN 0 0 0 0.006214 0 8 34 CDC25C 995 broad.mit.edu 37 5 137622194 137622194 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:137622194G>A uc003lcp.1 - 12 1423 c.1152C>T c.(1150-1152)GGC>GGT p.G384G CDC25C_uc003lcq.1_Silent_p.G311G|CDC25C_uc003lcr.1_Silent_p.G384G|CDC25C_uc011cyp.1_Silent_p.G401G|CDC25C_uc003lcs.1_Silent_p.G462G NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 384 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACATTCGGGGGCCCCTCTCTG 0.478 NaN 0 0 0 0.002222 0 43 97 PCDHA6 56142 broad.mit.edu 37 5 140209996 140209996 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:140209996C>T uc003lho.2 + 1 2347 c.2320C>T c.(2320-2322)CCC>TCC p.P774S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.P774S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 774 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTTTAGCCCCAGCCTTTC 0.517 NaN 0 0 0 0.006999 0 34 75 SLC36A2 153201 broad.mit.edu 37 5 150701700 150701700 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:150701700C>T uc003lty.2 - 9 1217 c.1087G>A c.(1087-1089)GAA>AAA p.E363K GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.E165K|SLC36A2_uc010jhv.2_Missense_Mutation_p.E363K NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 363 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGATGATTTCTGCAGGGACG 0.552 NaN 0 0 0 0.00333 0 25 63 FAT2 2196 broad.mit.edu 37 5 150931089 150931089 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:150931089C>T uc003lue.3 - 6 4248 c.4235G>A c.(4234-4236)AGA>AAA p.R1412K GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1412 Extracellular (Potential).|Cadherin 12. 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) GTTCGACCTTCTCCTGGTATC 0.537 NaN 0 0 0 0.002096 0 33 64 C5orf41 153222 broad.mit.edu 37 5 172518250 172518250 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:172518250A>T uc003mch.2 + 4 1372 c.1068A>T c.(1066-1068)GAA>GAT p.E356D C5orf41_uc003mcg.2_Missense_Mutation_p.E356D|C5orf41_uc003mcf.2_Missense_Mutation_p.E356D|C5orf41_uc011dfd.1_Missense_Mutation_p.E356D NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 356 Glu-rich. protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTCCtgaagaagatgaggagg 0.194 NaN 0 0 0 0.008291 0 9 24 C5orf25 375484 broad.mit.edu 37 5 175717546 175717546 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:175717546G>A uc003mds.3 + 4 1369 c.962G>A c.(961-963)GGA>GAA p.G321E C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.G340E|uc003mdu.1_Missense_Mutation_p.G232E Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 321 Pro-rich. 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) CACTTACCGGGAGATGTGTTA 0.547 NaN 0 0 0 0.001855 0 8 183 OR2J3 442186 broad.mit.edu 37 6 29080151 29080151 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:29080151C>A uc011dll.1 + 1 484 c.484C>A c.(484-486)CAT>AAT p.H162N NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTCAGCACTTCATTCCTCCTT 0.488 NaN 1 0 2.40789e-81 0.00361 3.30237e-81 158 143 RPL10A 4736 broad.mit.edu 37 6 35438423 35438423 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:35438423C>T uc003okp.1 + 6 584 c.550C>T c.(550-552)CAC>TAC p.H184Y RPL10A_uc003okq.1_Missense_Mutation_p.H100Y|RPL10A_uc003okr.1_Missense_Mutation_p.H100Y|RPL10A_uc003oks.1_Missense_Mutation_p.H100Y NM_007104 NP_009035 P62906 RL10A_HUMAN ribosomal protein L10a 184 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome ovary(1) 1 GTATAACATTCACCTGGCTGT 0.493 NaN 0 0 0 0.003214 0 45 50 DNAH8 1769 broad.mit.edu 37 6 38942237 38942237 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:38942237G>C uc003ooe.1 + 83 12715 c.12115G>C c.(12115-12117)GAC>CAC p.D4039H DNAH8_uc003oog.1_Missense_Mutation_p.D488H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGACCTTCTGGACATCAGTAA 0.423 NaN 0 0 0 0.002445 0 32 78 KIF6 221458 broad.mit.edu 37 6 39507798 39507798 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:39507798A>T uc003oot.2 - 13 1721 c.1626T>A c.(1624-1626)AGT>AGA p.S542R KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S333R|KIF6_uc011dua.1_Missense_Mutation_p.S542R|KIF6_uc010jxb.1_Intron NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 542 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 TGTGGAGCAAACTGGATCTTT 0.443 NaN 0 0 0 0.00361 0 123 117 LMBRD1 55788 broad.mit.edu 37 6 70386122 70386122 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:70386122C>T uc003pfa.2 - 16 1666 c.1551G>A c.(1549-1551)AAG>AAA p.K517K LMBRD1_uc003pey.2_Silent_p.K313K|LMBRD1_uc003pez.2_Silent_p.K444K|LMBRD1_uc010kal.2_Silent_p.K444K|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 517 Cytoplasmic (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 TAACCGATTTCTTCCCTTTAC 0.313 NaN 0 0 0 0.001855 0 11 31 OR2A4 79541 broad.mit.edu 37 6 132021851 132021851 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:132021851C>T uc011ecd.1 - 1 691 c.691G>A c.(691-693)GAA>AAA p.E231K ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron NM_030908 NP_112170 O95047 OR2A4_HUMAN olfactory receptor, family 2, subfamily A, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041) CTCTGAACTTCCCTTGATTGG 0.493 NaN 0 0 0 0.002522 0 35 82 ECT2L 345930 broad.mit.edu 37 6 139164270 139164270 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:139164270C>T uc003qif.1 + 4 600 c.497C>T c.(496-498)ACG>ATG p.T166M ECT2L_uc011edq.1_Missense_Mutation_p.T97M NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 166 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 ACTTATGGGACGCTGAATGAA 0.458 NaN 0 0 0 0.006999 0 40 52 C6orf97 80129 broad.mit.edu 37 6 151857488 151857488 + Silent SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:151857488G>T uc003qol.2 + 2 182 c.93G>T c.(91-93)ACG>ACT p.T31T NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 31 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TCCCGGTCACGCGGGAGCAGT 0.428 NaN 1 0 7.92952e-12 0.003954 1.01098e-11 23 34 LPA 4018 broad.mit.edu 37 6 160953592 160953592 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr6:160953592G>C uc003qtl.2 - 39 6052 c.5932C>G c.(5932-5934)CAT>GAT p.H1978D NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4486 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTGGCCAAATGCTCAGCACAA 0.458 NaN 0 0 0 0.001523 0 22 43 TNRC18 84629 broad.mit.edu 37 7 5354756 5354756 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:5354756G>C uc003soi.3 - 26 7235 c.6886C>G c.(6886-6888)CTG>GTG p.L2296V NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2296 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CTTGGCACCAGAAGGGCCGGG 0.667 NaN 0 0 0 0.006214 0 8 19 ARL4A 10124 broad.mit.edu 37 7 12728009 12728009 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:12728009G>C uc003ssp.2 + 2 407 c.130G>C c.(130-132)GAA>CAA p.E44Q ARL4A_uc003ssq.2_Missense_Mutation_p.E44Q|ARL4A_uc003ssr.2_Missense_Mutation_p.E44Q|ARL4A_uc003sss.2_Missense_Mutation_p.E44Q NM_001037164 NP_001032241 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 44 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) GCAGTTCAATGAATTTGTAAA 0.393 NaN 0 0 0 0.008871 0 16 51 FERD3L 222894 broad.mit.edu 37 7 19184952 19184952 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:19184952T>C uc003suo.1 - 1 93 c.34A>G c.(34-36)ACG>GCG p.T12A uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 12 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 TCCAGCACCGTAGTGTCCACG 0.672 NaN 0 0 0 0.00245 0 13 33 GPNMB 10457 broad.mit.edu 37 7 23296615 23296615 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:23296615G>A uc003swc.2 + 4 633 c.472G>A c.(472-474)GAT>AAT p.D158N GPNMB_uc003swa.2_Missense_Mutation_p.D158N|GPNMB_uc003swb.2_Missense_Mutation_p.D158N|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.D59N NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 158 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) CGTCTTCCCTGATGGGAAACC 0.483 NaN 0 0 0 0.002836 0 33 123 GPNMB 10457 broad.mit.edu 37 7 23313138 23313138 + Splice_Site SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:23313138A>G uc003swc.2 + 10 1627 c.1466_splice c.e10-2 p.D489_splice GPNMB_uc003swb.2_Splice_Site_p.D477_splice|GPNMB_uc011jyy.1_Splice_Site_p.D431_splice|GPNMB_uc011jyz.1_Splice_Site_p.D378_splice NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TTCTGTTTTAAGACCCAGCCT 0.463 NaN OREG0017893 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.002222 0 41 86 TRA2A 29896 broad.mit.edu 37 7 23547040 23547040 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:23547040G>A uc003swi.2 - 5 854 c.640C>T c.(640-642)CAT>TAT p.H214Y TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.H113Y|TRA2A_uc011jzd.1_Missense_Mutation_p.H113Y NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 214 Linker. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 AACTCTTACTGAGTTGGTCTG 0.378 NaN 0 0 0 0.00361 0 68 169 HOXA11 3207 broad.mit.edu 37 7 27222475 27222475 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:27222475C>T uc003syx.2 - 2 954 c.882G>A c.(880-882)ATG>ATA p.M294I HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 294 Homeobox. branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 TTTTTTCCTTCATTCTCCTGT 0.458 NaN T NUP98 CML 0 0 0 0.002836 0 32 90 C7orf41 222166 broad.mit.edu 37 7 30197062 30197062 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:30197062G>A uc011kab.1 + 3 495 c.294G>A c.(292-294)GGG>GGA p.G98G C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.G98G NM_152793 NP_690006 Q8N3F0 CG041_HUMAN hypothetical protein LOC222166 98 0 AGTTACTGGGGCTTCCGGATG 0.552 NaN 0 0 0 0.00361 0 70 216 ELMO1 9844 broad.mit.edu 37 7 37272761 37272761 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:37272761A>T uc003tfk.1 - 8 795 c.488T>A c.(487-489)GTT>GAT p.V163D ELMO1_uc011kbc.1_Missense_Mutation_p.V67D|ELMO1_uc010kxg.1_Missense_Mutation_p.V163D NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 163 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 CATCAGCTCAACGAAGGCCGT 0.498 NaN 0 0 0 0.00333 0 22 46 PSMA2 5683 broad.mit.edu 37 7 42964312 42964312 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:42964312C>T uc003thy.2 - 4 384 c.336G>A c.(334-336)CAG>CAA p.Q112Q C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.Q34Q|PSMA2_uc003thz.1_Silent_p.Q34Q NM_002787 NP_002778 P25787 PSA2_HUMAN proteasome subunit alpha type 2 112 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|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity large_intestine(2)|ovary(1) 3 AAGCTACTCTCTGTACCAGCT 0.393 NaN 0 0 0 0.00623 0 39 95 WBSCR22 114049 broad.mit.edu 37 7 73112020 73112020 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:73112020G>A uc003tyt.2 + 11 845 c.787G>A c.(787-789)GGC>AGC p.G263S WBSCR22_uc003tyu.2_Missense_Mutation_p.G280S|WBSCR22_uc003tyv.2_Missense_Mutation_p.G225S|WBSCR22_uc003tyw.1_Missense_Mutation_p.G126S NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 263 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CAGGCGCCAGGGCAGGTGAGT 0.607 NaN 0 0 0 0.003163 0 16 39 CLDN12 9069 broad.mit.edu 37 7 90042400 90042400 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:90042400G>A uc003ukp.2 + 5 1046 c.410G>A c.(409-411)GGG>GAG p.G137E CLDN12_uc003ukq.2_Missense_Mutation_p.G137E|CLDN12_uc010leq.2_Missense_Mutation_p.G137E|CLDN12_uc003ukr.2_Missense_Mutation_p.G137E|CLDN12_uc003uks.2_Missense_Mutation_p.G137E NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 137 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CTGGTGGCTGGGCTGCTATTT 0.498 NaN 0 0 0 0.004878 0 38 129 FZD1 8321 broad.mit.edu 37 7 90895380 90895380 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:90895380G>A uc003ula.2 + 1 1598 c.1185G>A c.(1183-1185)CAG>CAA p.Q395Q NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 395 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CTGTGGCGCAGGGCACCAAGA 0.612 NaN 0 0 0 0.002096 0 33 91 AKAP9 10142 broad.mit.edu 37 7 91694694 91694694 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:91694694G>C uc003ulg.2 + 25 6352 c.6127G>C c.(6127-6129)GAA>CAA p.E2043Q AKAP9_uc003ulf.2_Missense_Mutation_p.E2043Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1666Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2055 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCTGGAACAAGAAAAAAATAC 0.323 NaN T BRAF papillary thyroid 0 0 0 0.00245 0 14 51 AKAP9 10142 broad.mit.edu 37 7 91695741 91695741 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:91695741G>A uc003ulg.2 + 26 6436 c.6211G>A c.(6211-6213)GAG>AAG p.E2071K AKAP9_uc003ulf.2_Missense_Mutation_p.E2071K|AKAP9_uc003uli.2_Missense_Mutation_p.E1694K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2083 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TAAACTTTAGGAGCAAGCCAT 0.348 NaN T BRAF papillary thyroid 0 0 0 0.006122 0 19 61 ANKIB1 54467 broad.mit.edu 37 7 91981884 91981884 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:91981884G>T uc003ulw.2 + 9 1701 c.1325G>T c.(1324-1326)GGA>GTA p.G442V NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 442 IBR-type; degenerate. 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) AATACATCTGGATCTGATACA 0.443 NaN 1 0 3.1376e-36 0.00361 4.24339e-36 88 229 ANKIB1 54467 broad.mit.edu 37 7 92027739 92027739 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:92027739T>G uc003ulw.2 + 20 3122 c.2746T>G c.(2746-2748)TTG>GTG p.L916V ANKIB1_uc010lew.1_Missense_Mutation_p.L185V NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 916 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) CTCTGAGCTTTTGGAACTTGG 0.507 NaN 0 0 0 0.003163 0 16 23 PEX1 5189 broad.mit.edu 37 7 92143223 92143223 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:92143223G>A uc003uly.2 - 6 1394 c.1298C>T c.(1297-1299)ACT>ATT p.T433I PEX1_uc011khr.1_Missense_Mutation_p.T225I|PEX1_uc010ley.2_Missense_Mutation_p.T433I|PEX1_uc011khs.1_Missense_Mutation_p.T111I|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 433 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTCCACTGGAGTTATCCTGAC 0.299 NaN 0 0 0 0.00361 0 52 122 MUC17 140453 broad.mit.edu 37 7 100678716 100678716 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:100678716C>G uc003uxp.1 + 3 4072 c.4019C>G c.(4018-4020)ACA>AGA p.T1340R MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1340 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCTTTAACAAGTATACCT 0.463 NaN 0 0 0 0.00361 0 115 307 RINT1 60561 broad.mit.edu 37 7 105189056 105189056 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:105189056T>A uc003vda.1 + 7 1126 c.895T>A c.(895-897)TCC>ACC p.S299T RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 299 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 TCTTCCTGCCTCCCCTTCTGT 0.433 NaN 0 0 0 0.00361 0 68 154 PIK3CG 5294 broad.mit.edu 37 7 106508023 106508023 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:106508023A>G uc003vdv.3 + 2 102 c.17A>G c.(16-18)TAT>TGT p.Y6C PIK3CG_uc003vdu.2_Missense_Mutation_p.Y6C|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y6C NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 6 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 CTGGAGAACTATAAACAGCCC 0.582 NaN 0 0 0 0.004656 0 24 72 LRRN3 54674 broad.mit.edu 37 7 110763553 110763553 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:110763553C>G uc003vft.3 + 4 1771 c.725C>G c.(724-726)TCT>TGT p.S242C IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S242C|LRRN3_uc003vfs.3_Missense_Mutation_p.S242C NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 242 Extracellular (Potential).|LRR 8. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GAAAGCATCTCTTTTTACGAT 0.343 NaN 0 0 0 0.007291 0 26 61 ING3 54556 broad.mit.edu 37 7 120610799 120610799 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:120610799A>T uc003vjn.2 + 10 1100 c.966A>T c.(964-966)TTA>TTT p.L322F ING3_uc003vjo.2_Missense_Mutation_p.L96F|ING3_uc003vjp.2_Missense_Mutation_p.L322F|ING3_uc011kns.1_Missense_Mutation_p.L307F NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 322 Poly-Ser. histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) CTTCTTCCTTATCATCGTGTT 0.378 NaN 0 0 0 0.007413 0 17 45 SVOPL 136306 broad.mit.edu 37 7 138312175 138312175 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:138312175G>A uc011kqh.1 - 11 1101 c.1101C>T c.(1099-1101)TTC>TTT p.F367F SVOPL_uc003vue.2_Silent_p.F215F NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 367 Helical; (Potential). integral to membrane transmembrane transporter activity 0 GTCTTCCCAGGAAATTGATGC 0.403 NaN 0 0 0 0.001984 0 6 23 WEE2 494551 broad.mit.edu 37 7 141427156 141427156 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:141427156G>A uc003vwn.2 + 10 1851 c.1445G>A c.(1444-1446)AGA>AAA p.R482K FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 482 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) GCTCTGGCCAGAAATACAGTT 0.458 NaN 0 0 0 0.00361 0 57 174 OR2A12 346525 broad.mit.edu 37 7 143793100 143793100 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:143793100A>G uc011kty.1 + 1 900 c.900A>G c.(898-900)CTA>CTG p.L300L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) AAGGGGCTCTAAAGAGAGTCC 0.453 NaN 0 0 0 0.00361 0 83 268 MLL3 58508 broad.mit.edu 37 7 151864230 151864230 + Splice_Site SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:151864230C>T uc003wla.2 - 42 9969 c.9750_splice c.e42+1 p.Q3250_splice MLL3_uc003wkz.2_Splice_Site_p.Q2311_splice|MLL3_uc003wky.2_Splice_Site_p.Q759_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 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) CTATTTATTACCTGTTCTAGC 0.368 NaN N medulloblastoma 0 0 0 0.00499 0 18 57 PAXIP1 22976 broad.mit.edu 37 7 154739621 154739621 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:154739621G>T uc003wlp.2 - 17 2957 c.2914C>A c.(2914-2916)CTC>ATC p.L972I LOC100132707_uc003wlo.2_RNA|PAXIP1_uc003wlq.1_Missense_Mutation_p.L938I|PAXIP1_uc011kvs.1_Missense_Mutation_p.L936I NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 972 Interaction with TP53BP1.|BRCT 6. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) ACCTTAAAGAGTGGAGAAACG 0.448 NaN 1 0 5.10508e-28 0.00361 6.88038e-28 61 194 NOM1 64434 broad.mit.edu 37 7 156745289 156745289 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr7:156745289A>G uc003wmy.2 + 2 1124 c.1109A>G c.(1108-1110)AAC>AGC p.N370S NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 370 MIF4G. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GGTCTACTTAACAGGTGACCT 0.413 NaN 0 0 0 0.000978 0 12 34 DLC1 10395 broad.mit.edu 37 8 13357474 13357474 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:13357474A>G uc003wwm.2 - 2 551 c.107T>C c.(106-108)GTA>GCA p.V36A DLC1_uc003wwn.2_Missense_Mutation_p.V36A|DLC1_uc011kxy.1_Missense_Mutation_p.V36A NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 36 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GCTGTCAGCTACTAGTCCATG 0.453 NaN 0 0 0 0.00361 0 97 164 PSD3 23362 broad.mit.edu 37 8 18662314 18662314 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:18662314C>A uc003wza.2 - 5 1832 c.1729G>T c.(1729-1731)GGT>TGT p.G577C PSD3_uc003wyy.2_Missense_Mutation_p.G43C|PSD3_uc003wyz.2_5'UTR NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 577 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTGCTGGTACCATTACTGAGA 0.448 NaN 1 0 1.77355e-41 0.00361 2.40697e-41 75 284 SH2D4A 63898 broad.mit.edu 37 8 19190582 19190582 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:19190582G>A uc003wzb.2 + 3 634 c.298G>A c.(298-300)GAG>AAG p.E100K SH2D4A_uc011kym.1_Missense_Mutation_p.E55K|SH2D4A_uc003wzc.2_Missense_Mutation_p.E100K NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 100 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) AATTATTGCTGAGAGGGCCCG 0.458 NaN 0 0 0 0.001786 0 31 103 PDLIM2 64236 broad.mit.edu 37 8 22442884 22442884 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:22442884C>G uc003xby.2 + 6 912 c.512C>G c.(511-513)TCC>TGC p.S171C PDLIM2_uc003xbx.1_Missense_Mutation_p.S171C|PDLIM2_uc003xbz.2_Missense_Mutation_p.S171C|PDLIM2_uc003xca.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcb.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcc.1_Missense_Mutation_p.S171C NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 2 171 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) GACCGCCTGTCCTACTCAGGC 0.672 NaN 0 0 0 0.001168 0 5 30 TNFRSF10A 8797 broad.mit.edu 37 8 23056919 23056919 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:23056919C>T uc003xda.2 - 8 939 c.874G>A c.(874-876)GAG>AAG p.E292K NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 292 Cytoplasmic (Potential). 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) GCATTGTCCTCAGCCCCAGGC 0.587 NaN 0 0 0 0.007835 0 39 58 CHMP7 91782 broad.mit.edu 37 8 23112797 23112797 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:23112797C>T uc003xdc.2 + 4 1157 c.509C>T c.(508-510)TCG>TTG p.S170L CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.S60L|CHMP7_uc003xde.2_Missense_Mutation_p.S28L NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN CHMP family, member 7 170 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity 0 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TATCAGAACTCGCCCCTCTCC 0.592 NaN 0 0 0 0.004007 0 16 53 NEFM 4741 broad.mit.edu 37 8 24775841 24775841 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:24775841G>A uc003xed.3 + 3 2506 c.2473G>A c.(2473-2475)GAG>AAG p.E825K NEFM_uc011lac.1_Missense_Mutation_p.E607K|NEFM_uc010lue.2_Missense_Mutation_p.E449K NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 825 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) tgggagggaagaggagaaagG 0.229 NaN 0 0 0 0.002299 0 22 21 EPHX2 2053 broad.mit.edu 37 8 27361273 27361273 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:27361273G>T uc003xfu.2 + 3 420 c.339G>T c.(337-339)AGG>AGT p.R113S EPHX2_uc010lut.1_Missense_Mutation_p.R113S|EPHX2_uc010luu.2_Missense_Mutation_p.R113S|EPHX2_uc010luv.2_Missense_Mutation_p.R47S|EPHX2_uc003xfv.2_Missense_Mutation_p.R60S|EPHX2_uc010luw.2_Missense_Mutation_p.R47S|EPHX2_uc011lam.1_5'Flank NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 113 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TCATGCTCAGGAAGAAAGGTA 0.493 NaN 1 0 2.64397e-27 0.005443 3.55726e-27 23 97 C8orf41 80185 broad.mit.edu 37 8 33370001 33370001 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:33370001C>T uc003xjl.3 - 1 656 c.131G>A c.(130-132)CGA>CAA p.R44Q C8orf41_uc003xjk.3_Missense_Mutation_p.R44Q|C8orf41_uc010lvv.2_Missense_Mutation_p.R44Q|C8orf41_uc003xjm.3_Missense_Mutation_p.R44Q|C8orf41_uc003xjn.1_Missense_Mutation_p.R44Q NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 44 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) TACATTGCCTCGTCGTGCCTC 0.507 NaN 0 0 0 0.004289 0 32 151 ADAM2 2515 broad.mit.edu 37 8 39645638 39645638 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:39645638C>A uc003xnj.2 - 9 850 c.775G>T c.(775-777)GTT>TTT p.V259F ADAM2_uc003xnk.2_Missense_Mutation_p.V240F|ADAM2_uc011lck.1_Missense_Mutation_p.V259F|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 259 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) GGACGTAAAACAAGATAAGAT 0.308 NaN 1 0 1.96292e-10 0.001523 2.48637e-10 22 95 RB1CC1 9821 broad.mit.edu 37 8 53568671 53568671 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:53568671C>T uc003xre.3 - 15 4276 c.3718G>A c.(3718-3720)GAA>AAA p.E1240K RB1CC1_uc003xrf.3_Missense_Mutation_p.E1240K NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 1240 Potential. autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TGAATAGCTTCATCTTTTTCA 0.343 NaN 0 0 0 0.00361 0 80 104 PENK 5179 broad.mit.edu 37 8 57353869 57353869 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:57353869C>T uc003xsz.2 - 2 847 c.766G>A c.(766-768)GAA>AAA p.E256K PENK_uc003xta.3_Missense_Mutation_p.E256K NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 256 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTTTCCATTTCAGGAACTTCT 0.502 NaN 0 0 0 0.00361 0 105 175 TOX 9760 broad.mit.edu 37 8 59728257 59728257 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:59728257C>G uc003xtw.1 - 7 1253 c.1032G>C c.(1030-1032)AAG>AAC p.K344N NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 344 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTTGAGATGTCTTCACGTCAA 0.507 NaN 0 0 0 0.00632 0 27 74 ZFHX4 79776 broad.mit.edu 37 8 77618118 77618118 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:77618118G>T uc003yav.2 + 2 2182 c.1795G>T c.(1795-1797)GGC>TGC p.G599C ZFHX4_uc003yat.1_Missense_Mutation_p.G599C|ZFHX4_uc003yau.1_Missense_Mutation_p.G599C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G599C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 599 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) GAGTACTCCTGGCACACCAGG 0.572 NaN HNSCC(33;0.089) 1 0 1.4374e-25 0.00361 1.92064e-25 49 66 CHMP4C 92421 broad.mit.edu 37 8 82670747 82670747 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:82670747G>A uc003ycl.2 + 5 844 c.670G>A c.(670-672)GAT>AAT p.D224N NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN chromatin modifying protein 4C 224 Intramolecular interaction with N- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(2) 2 AGAGGATGATGATATCAAACA 0.318 NaN 0 0 0 0.001882 0 20 98 NBN 4683 broad.mit.edu 37 8 90995014 90995014 + Missense_Mutation SNP T T G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:90995014T>G uc003yej.1 - 2 217 c.107A>C c.(106-108)GAA>GCA p.E36A NBN_uc003yei.1_5'UTR|NBN_uc011lgb.1_Missense_Mutation_p.E36A NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 36 FHA. cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) CTGATCATTTTCAATCAGAAT 0.343 NaN Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 0 0 0 0.003755 0 35 116 RGS22 26166 broad.mit.edu 37 8 101076156 101076156 + Silent SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:101076156T>C uc003yjb.1 - 8 1035 c.840A>G c.(838-840)GTA>GTG p.V280V RGS22_uc003yja.1_Silent_p.V99V|RGS22_uc003yjc.1_Silent_p.V268V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 280 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTGTAGAGATACAGACACCt 0.338 NaN 0 0 0 0.001855 0 14 248 PKHD1L1 93035 broad.mit.edu 37 8 110460573 110460573 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:110460573T>C uc003yne.2 + 39 6082 c.5978T>C c.(5977-5979)GTT>GCT p.V1993A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1993 Extracellular (Potential).|IPT/TIG 12. 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) ATGTCCACAGTTGTATTTGAG 0.408 NaN HNSCC(38;0.096) 0 0 0 0.001984 0 7 46 NDUFB9 4715 broad.mit.edu 37 8 125555358 125555358 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:125555358G>A uc003yrg.3 + 2 217 c.132G>A c.(130-132)ATG>ATA p.M44I NDUFB9_uc011lim.1_Missense_Mutation_p.M44I NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 44 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|skin(1) 2 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) CTTGTTTGATGAGAGCCCGGT 0.448 NaN 0 0 0 0.003163 0 14 80 DENND3 22898 broad.mit.edu 37 8 142148141 142148141 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:142148141G>A uc003yvy.2 + 3 444 c.166G>A c.(166-168)GAA>AAA p.E56K DENND3_uc003yvw.1_Missense_Mutation_p.E69K|DENND3_uc003yvx.2_Missense_Mutation_p.E136K|DENND3_uc010mep.2_Missense_Mutation_p.E69K NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 56 UDENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CGTGGCCACTGAACCTAAGGA 0.572 NaN 0 0 0 0.001168 0 5 19 RHPN1 114822 broad.mit.edu 37 8 144462009 144462009 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:144462009A>G uc003yyb.2 + 9 1089 c.956A>G c.(955-957)GAG>GGG p.E319G NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 319 BRO1. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GTGGCAGCCGAGTACAGGCTA 0.667 NaN 0 0 0 0.004482 0 8 27 EEF1D 1936 broad.mit.edu 37 8 144668447 144668447 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:144668447C>T uc011lki.1 - 3 400 c.131G>A c.(130-132)AGC>AAC p.S44N EEF1D_uc003yyp.1_Intron|EEF1D_uc003yyq.1_Missense_Mutation_p.S460N|EEF1D_uc011lkj.1_Missense_Mutation_p.S409N|EEF1D_uc003yyr.2_Missense_Mutation_p.S410N|EEF1D_uc003yyt.2_Missense_Mutation_p.S410N|EEF1D_uc011lkk.1_Missense_Mutation_p.S44N|EEF1D_uc003yys.2_Missense_Mutation_p.S44N|EEF1D_uc003yyv.2_Intron|EEF1D_uc003yyu.2_Missense_Mutation_p.S44N|EEF1D_uc011lkl.1_Missense_Mutation_p.S44N NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 44 S -> T (in Ref. 1; CAA79716). positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GAGGATCACGCTGGCGCCGTT 0.493 NaN 0 0 0 0.00245 0 13 18 TIGD5 84948 broad.mit.edu 37 8 144680461 144680461 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:144680461G>A uc003yyx.1 + 1 241 c.241G>A c.(241-243)GCC>ACC p.A81T EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 130 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGCCGTGTACGCCTGGTTCCT 0.701 NaN 0 0 0 0.00499 0 14 19 NFKBIL2 4796 broad.mit.edu 37 8 145660258 145660258 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:145660258C>T uc011llg.1 - 20 3036 c.3021G>A c.(3019-3021)GTG>GTA p.V1007V uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1007 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCCACGAAGTCACCTCAGCCA 0.667 NaN 0 0 0 0.001368 0 12 60 KIFC2 90990 broad.mit.edu 37 8 145697774 145697774 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:145697774C>T uc003zcz.2 + 15 1703 c.1638C>T c.(1636-1638)CGC>CGT p.R546R KIFC2_uc003zda.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 546 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTCCCGAGCGCCTGGCCGTGA 0.662 NaN 0 0 0 0.00499 0 18 42 RECQL4 9401 broad.mit.edu 37 8 145738372 145738372 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:145738372C>T uc003zdj.2 - 16 2645 c.2613G>A c.(2611-2613)GAG>GAA p.E871E NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 871 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCACAGGCCTCTCCCCACCCA 0.667 NaN N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 0 0 0 0.000602 0 5 7 KIAA2026 158358 broad.mit.edu 37 9 6007547 6007547 + Nonsense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:6007547G>A uc003zjq.3 - 1 457 c.241C>T c.(241-243)CAG>TAG p.Q81* NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 81 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CGGTAGCCCTGCTGTAGCTCG 0.662 NaN 0 0 0 0.002222 0 41 28 CDKN2A 1029 broad.mit.edu 37 9 21971209 21971209 + Splice_Site SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 T A T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:21971209T>A uc003zpk.2 - 2 363 c.151_splice c.e2-1 p.V51_splice MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site_p.G106_splice NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(19)|p.V28_V51del(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CATCATGACCTGCCAGAGAGA 0.667 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 0 0 0 0.00245 0 12 12 DCAF12 25853 broad.mit.edu 37 9 34125208 34125208 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:34125208T>A uc003ztt.2 - 2 488 c.146A>T c.(145-147)TAC>TTC p.Y49F NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 49 centrosome|CUL4 RING ubiquitin ligase complex 0 GTTCTTCAAGTAGTATACTAA 0.463 NaN 0 0 0 0.00361 0 49 47 GNE 10020 broad.mit.edu 37 9 36276896 36276896 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:36276896G>A uc010mli.2 - 1 146 c.46C>T c.(46-48)CCT>TCT p.P16S CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.D48D NM_001128227 NP_001121699 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- Error:Variant_position_missing_in_Q9Y223_after_alignment cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) CTTACATGAGGTCCTTGAAAG 0.408 NaN 0 0 0 0.00361 0 78 78 SHB 6461 broad.mit.edu 37 9 38016031 38016031 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:38016031T>C uc004aax.2 - 2 1383 c.815A>G c.(814-816)TAT>TGT p.Y272C NM_003028 NP_003019 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein 272 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|skin(1) 3 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) CTGTGCCTCATAGGGCTCCAT 0.557 NaN 0 0 0 0.00361 0 164 143 C9orf3 84909 broad.mit.edu 37 9 97522147 97522147 + Missense_Mutation SNP C C A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:97522147C>A uc004ava.2 + 1 217 c.82C>A c.(82-84)CTG>ATG p.L28M C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.L28M|C9orf3_uc004auy.2_Missense_Mutation_p.L28M|C9orf3_uc004auz.1_Missense_Mutation_p.L28M NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 28 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GCACTATGTACTGGATTTGGA 0.443 NaN 1 0 6.32553e-13 0.004656 8.10459e-13 28 62 EPB41L4B 54566 broad.mit.edu 37 9 112018495 112018495 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:112018495C>T uc004bdz.1 - 9 1145 c.850G>A c.(850-852)GGC>AGC p.G284S EPB41L4B_uc004bea.2_Missense_Mutation_p.G284S NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 284 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TATTCACAGCCATCTCTTCCC 0.393 NaN 0 0 0 0.00361 0 79 51 CEP110 11064 broad.mit.edu 37 9 123852674 123852674 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:123852674G>A uc004bkx.1 + 2 370 c.339G>A c.(337-339)AAG>AAA p.K113K CEP110_uc004bkw.2_Silent_p.K113K NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 113 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 ACGGTGGCAAGAAATTTAAGG 0.313 NaN 0 0 0 0.00361 0 53 45 C9orf96 169436 broad.mit.edu 37 9 136269137 136269137 + Missense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:136269137C>T uc004cdk.2 + 16 1758 c.1697C>T c.(1696-1698)GCC>GTC p.A566V C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 566 ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTGAACAATGCCTACCGGGGA 0.612 NaN OREG0019586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 46 38 ACOT9 23597 broad.mit.edu 37 X 23748661 23748661 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:23748661T>A uc004dap.2 - 5 502 c.356A>T c.(355-357)GAT>GTT p.D119V ACOT9_uc004dao.2_Missense_Mutation_p.D128V|ACOT9_uc004daq.2_Missense_Mutation_p.D77V|ACOT9_uc004dar.2_Missense_Mutation_p.D59V|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.D59V|ACOT9_uc004dat.1_Missense_Mutation_p.D119V NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 119 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 GCTGTCAAGATCCTCAAGAAT 0.328 NaN 0 0 0 0.00361 0 55 42 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:44922802C>T uc004dge.3 + 16 2038 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGCGTCTCTCAGCCTGGAGT 0.567 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.004007 0 15 20 ATRX 546 broad.mit.edu 37 X 76919036 76919036 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:76919036G>C uc004ecp.3 - 12 4187 c.3955C>G c.(3955-3957)CAA>GAA p.Q1319E ATRX_uc004ecq.3_Missense_Mutation_p.Q1281E|ATRX_uc004eco.3_Missense_Mutation_p.Q1104E|ATRX_uc004ecr.2_Missense_Mutation_p.Q1251E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1319 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GAATTGACTTGATTTTTTGCT 0.358 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.00245 0 14 11 MID2 11043 broad.mit.edu 37 X 107169341 107169341 + Missense_Mutation SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:107169341G>A uc004enl.2 + 9 2188 c.1615G>A c.(1615-1617)GAT>AAT p.D539N MID2_uc004enk.2_Missense_Mutation_p.D509N NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 539 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CTTTAAATTGGATCCCAAAAT 0.378 NaN 0 0 0 0.004289 0 37 34 ZCCHC12 170261 broad.mit.edu 37 X 117959285 117959285 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:117959285G>A uc004equ.2 + 4 551 c.78G>A c.(76-78)CTG>CTA p.L26L NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 ATTCCATGCTGAGGTCCCTGG 0.433 NaN 0 0 0 0.002222 0 45 28 PHF6 84295 broad.mit.edu 37 X 133511786 133511786 + Splice_Site SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:133511786G>A uc004exj.2 + 2 340 c.138_splice c.e2+1 p.M46_splice PHF6_uc004exk.2_Splice_Site_p.M46_splice|PHF6_uc011mvk.1_Splice_Site_p.M46_splice|PHF6_uc004exh.2_Splice_Site_p.M46_splice|PHF6_uc010nrr.2_Splice_Site_p.M46_splice|PHF6_uc004exi.2_Splice_Site_p.M46_splice NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TAAGTGCATGGTAAGTATACC 0.378 NaN 0 0 0 0.004878 0 36 30 ZNF185 7739 broad.mit.edu 37 X 152128422 152128422 + Missense_Mutation SNP G G T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:152128422G>T uc010ntv.1 + 17 1623 c.1586G>T c.(1585-1587)CGA>CTA p.R529L ZNF185_uc011myg.1_Missense_Mutation_p.R561L|ZNF185_uc011myh.1_Missense_Mutation_p.R532L|ZNF185_uc011myi.1_Missense_Mutation_p.R500L|ZNF185_uc011myj.1_Missense_Mutation_p.R470L|ZNF185_uc011myk.1_Missense_Mutation_p.R530L|ZNF185_uc004fgw.3_Missense_Mutation_p.R308L|ZNF185_uc004fgu.2_Missense_Mutation_p.R158L|ZNF185_uc004fgv.2_Missense_Mutation_p.R226L|ZNF185_uc004fgx.2_Missense_Mutation_p.R167L NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 529 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTCGTCAGACGAGAGAGCTGC 0.582 NaN 1 0 1.6384e-10 0.001984 2.08208e-10 5 9 C1orf9 51430 broad.mit.edu 37 1 172546905 172546905 + Frame_Shift_Del DEL T T - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr1:172546905delT uc001giq.3 + 13 1602 c.1286delT c.(1285-1287)GTTfs p.V429fs C1orf9_uc010pmm.1_Frame_Shift_Del_p.V429fs|C1orf9_uc009wwd.2_Frame_Shift_Del_p.V385fs|C1orf9_uc010pmn.1_Frame_Shift_Del_p.V392fs|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 429 SUN. multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) ATTCTTTAGGTTGAGTTGCTA 0.289 NaN NaN NaN NaN NaN NaN 24 79 --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:30316501_30316503delCTG uc001iux.2 - 2 2633_2635 c.2574_2576delCAG c.(2572-2577)AGCAGT>AGT p.858_859SS>S KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_In_Frame_Del_p.720_721SS>S|KIAA1462_uc009xle.1_In_Frame_Del_p.858_859SS>S NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 858_859 Ser-rich. ovary(4) 4 ACTCTCCTCActgctgctgctgc 0.463 NaN NaN NaN NaN NaN NaN 11 193 --- --- ALOX5 240 broad.mit.edu 37 10 45920479 45920480 + Frame_Shift_Ins INS - - G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:45920479_45920480insG uc001jce.2 + 6 832_833 c.733_734insG c.(733-735)TTGfs p.L245fs ALOX5_uc009xmt.2_Frame_Shift_Ins_p.L245fs|ALOX5_uc010qfg.1_Frame_Shift_Ins_p.L245fs NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 245 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CAACCCTGTGTTGATCCGGCGC 0.604 NaN NaN NaN NaN NaN NaN 55 142 --- --- SLK 9748 broad.mit.edu 37 10 105727602 105727619 + In_Frame_Del DEL TTGGGAGATTATAGGAGA TTGGGAGATTATAGGAGA - rs149480041 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr10:105727602_105727619delTTGGGAGATTATAGGAGA uc001kxo.1 + 1 133_150 c.99_116delTTGGGAGATTATAGGAGA c.(97-117)TTTTGGGAGATTATAGGAGAA>TTA p.33_39FWEIIGE>L SLK_uc001kxp.1_In_Frame_Del_p.33_39FWEIIGE>L NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 33_39 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCGAAGACTTTTGGGAGATTATAGGAGAACTGGGCGAC 0.5 NaN NaN NaN NaN NaN NaN 11 99 --- --- AMBRA1 55626 broad.mit.edu 37 11 46563668 46563677 + Frame_Shift_Del DEL CTCCAGCCTG CTCCAGCCTG - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr11:46563668_46563677delCTCCAGCCTG uc010rgu.1 - 7 2250_2259 c.1890_1899delCAGGCTGGAG c.(1888-1899)AGCAGGCTGGAGfs p.S630fs AMBRA1_uc010rgt.1_Frame_Shift_Del_p.S196fs|AMBRA1_uc009ylc.1_Frame_Shift_Del_p.S630fs|AMBRA1_uc001ncu.1_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncv.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncw.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncx.2_Frame_Shift_Del_p.S630fs NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 630_633 Ser-rich. autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AGCTGCTCAACTCCAGCCTGCTGGAGCTGG 0.595 NaN NaN NaN NaN NaN NaN 7 64 --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:71275774_71275776delCCT uc001xmm.2 - 1 113_115 c.113_115delAGG c.(112-117)GAGGCG>GCG p.E38del MAP3K9_uc001xml.2_In_Frame_Del_p.E38del NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.68 NaN NaN NaN NaN NaN NaN 3 3 --- --- PSEN1 5663 broad.mit.edu 37 14 73659343 73659369 + Splice_Site DEL TTTTTTCAGGGAAGTGTTTAAAACCTA TTTTTTCAGGGAAGTGTTTAAAACCTA - rs63750311 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA uc001xnr.2 + 7 833 c.549_splice c.e7-1 p.G183_splice PSEN1_uc001xnv.2_Splice_Site_p.G179_splice|PSEN1_uc010ark.2_Splice_Site_p.G179_splice|PSEN1_uc001xnt.1_Splice_Site|PSEN1_uc001xnu.2_Splice_Site NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CTGTGTAATTTTTTTTCAGGGAAGTGTTTAAAACCTATAACGTTGCT 0.308 NaN NaN NaN NaN NaN NaN 14 100 --- --- ENTPD5 957 broad.mit.edu 37 14 74438590 74438590 + Frame_Shift_Del DEL A A - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr14:74438590delA uc010tuo.1 - 14 1360 c.1049delT c.(1048-1050)TTAfs p.L350fs ENTPD5_uc001xpi.2_Frame_Shift_Del_p.L350fs NM_001249 NP_001240 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 350 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00394) TTCAACTTTTAAAATACCCCC 0.378 NaN NaN NaN NaN NaN NaN 64 215 --- --- THAP10 56906 broad.mit.edu 37 15 71174825 71174843 + Frame_Shift_Del DEL TATAAGACAAATCACTCTG TATAAGACAAATCACTCTG - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr15:71174825_71174843delTATAAGACAAATCACTCTG uc002asv.2 - 3 866_884 c.724_742delCAGAGTGATTTGTCTTATA c.(724-744)CAGAGTGATTTGTCTTATATGfs p.Q242fs LRRC49_uc002asu.2_Intron NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 242_248 DNA binding|metal ion binding ovary(1)|skin(1) 2 TGTACAGCCATATAAGACAAATCACTCTGTTCACTCTTG 0.356 NaN NaN NaN NaN NaN NaN 7 190 --- --- ATAD5 79915 broad.mit.edu 37 17 29220513 29220513 + Frame_Shift_Del DEL G G - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:29220513delG uc002hfs.1 + 21 4988 c.4642delG c.(4642-4644)GCTfs p.A1548fs NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1548 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAATTGTCTTGCTAGGAAACA 0.363 NaN NaN NaN NaN NaN NaN 32 91 --- --- TOP2A 7153 broad.mit.edu 37 17 38564250 38564251 + Frame_Shift_Ins INS - - T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr17:38564250_38564251insT uc002huq.2 - 12 1594_1595 c.1468_1469insA c.(1468-1470)ATAfs p.I490fs TOP2A_uc002hur.1_Frame_Shift_Ins_p.I131fs NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 490 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) AACATTGAGTATTTTTCCTCTA 0.371 NaN NaN NaN NaN NaN NaN 54 216 --- --- MBD1 4152 broad.mit.edu 37 18 47800609 47800626 + In_Frame_Del DEL TGCCCCCGAATTTGGGCT TGCCCCCGAATTTGGGCT - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr18:47800609_47800626delTGCCCCCGAATTTGGGCT uc010dow.1 - 11 1513_1530 c.1076_1093delAGCCCAAATTCGGGGGCA c.(1075-1095)AAGCCCAAATTCGGGGGCAGC>AGC p.KPKFGG359del MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.KPKFGG309del|MBD1_uc010xdi.1_In_Frame_Del_p.KPKFGG410del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lei.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.KPKFGG310del|MBD1_uc002lel.3_In_Frame_Del_p.KPKFGG336del|MBD1_uc002lem.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.KPKFGG384del|MBD1_uc010dox.1_In_Frame_Del_p.KPKFGG336del|MBD1_uc002leo.2_In_Frame_Del_p.KPKFGG359del NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 359_364 CXXC-type 3. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTCTGGTTGCTGCCCCCGAATTTGGGCTTGTCGCAGCA 0.651 NaN NaN NaN NaN NaN NaN 24 137 --- --- SLC20A1 6574 broad.mit.edu 37 2 113404397 113404433 + Translation_Start_Site DEL CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr2:113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG uc002tib.2 + 2 uc010fkq.1_5'Flank NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 ACAACCACTACTCCAGAGAATGGCAACGCTGATTACCAGTACTACAGCTGCTACCGC 0.409 NaN NaN NaN NaN NaN NaN 9 53 --- --- KIF3B 9371 broad.mit.edu 37 20 30898454 30898483 + In_Frame_Del DEL TATCGGGACTCAAAGCTTACCAGGCTCCTC TATCGGGACTCAAAGCTTACCAGGCTCCTC - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC uc002wxq.2 + 2 1041_1070 c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC c.(874-903)TATCGGGACTCAAAGCTTACCAGGCTCCTCdel p.YRDSKLTRLL292del KIF3B_uc010ztv.1_In_Frame_Del_p.YRDSKLTRLL292del|KIF3B_uc010ztw.1_In_Frame_Del_p.YRDSKLTRLL292del NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 292_301 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCC 0.509 NaN NaN NaN NaN NaN NaN 8 62 --- --- ITCH 83737 broad.mit.edu 37 20 33057885 33057897 + Frame_Shift_Del DEL ACTTCAAAGCAAA ACTTCAAAGCAAA - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:33057885_33057897delACTTCAAAGCAAA uc010geu.1 + 16 1772_1784 c.1580_1592delACTTCAAAGCAAA c.(1579-1593)GACTTCAAAGCAAAGfs p.D527fs ITCH_uc002xak.2_Frame_Shift_Del_p.D486fs|ITCH_uc010zuj.1_Frame_Shift_Del_p.D376fs NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 527_531 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 TATGTTCGGGACTTCAAAGCAAAGGTTCAGTAT 0.399 NaN NaN NaN NaN NaN NaN 49 308 --- --- C20orf195 79025 broad.mit.edu 37 20 62187700 62187708 + In_Frame_Del DEL GTTCGTCAC GTTCGTCAC - rs150942473 by1000genomes TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr20:62187700_62187708delGTTCGTCAC uc002yfj.2 + 2 776_784 c.684_692delGTTCGTCAC c.(682-693)TGGTTCGTCACC>TGC p.228_231WFVT>C C20orf195_uc002yfk.2_In_Frame_Del_p.228_231WFVT>C NM_024059 NP_076964 Q9BVV2 CT195_HUMAN hypothetical protein LOC79025 228_231 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGCTGCGCTGGTTCGTCACCATCCAGCCA 0.641 NaN NaN NaN NaN NaN NaN 53 200 --- --- TGFBR2 7048 broad.mit.edu 37 3 30713456 30713457 + Frame_Shift_Ins INS - - C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:30713456_30713457insC uc003ceo.2 + 4 1163_1164 c.781_782insC c.(781-783)GCCfs p.A261fs TGFBR2_uc003cen.2_Frame_Shift_Ins_p.A286fs NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 261 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GGTCTATAAGGCCAAGCTGAAG 0.515 NaN NaN NaN NaN NaN NaN 50 62 --- --- DNAH1 25981 broad.mit.edu 37 3 52433606 52433607 + Frame_Shift_Ins INS - - GGTGC TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:52433606_52433607insGGTGC uc011bef.1 + 77 12748_12749 c.12487_12488insGGTGC c.(12487-12489)GGGfs p.G4163fs DNAH1_uc003ddv.2_Intron NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4228 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) ACCCCAAGTAGGGTGCTATATC 0.525 NaN NaN NaN NaN NaN NaN 7 39 --- --- ZDHHC19 131540 broad.mit.edu 37 3 195935333 195935355 + Frame_Shift_Del DEL GCCCGAGTAGAGGCACAGGGACA GCCCGAGTAGAGGCACAGGGACA - rs75505676 byFrequency TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr3:195935333_195935355delGCCCGAGTAGAGGCACAGGGACA uc003fwc.2 - 4 599_621 c.485_507delTGTCCCTGTGCCTCTACTCGGGC c.(484-507)CTGTCCCTGTGCCTCTACTCGGGCfs p.L162fs ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_RNA NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 162_169 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CCAGCATGGCGCCCGAGTAGAGGCACAGGGACAGGACAAGCAG 0.583 NaN NaN NaN NaN NaN NaN 20 40 --- --- C4orf14 84273 broad.mit.edu 37 4 57842717 57842743 + In_Frame_Del DEL GCCCACTAAGTAGACGTCCCCACGGTA GCCCACTAAGTAGACGTCCCCACGGTA - rs145154138 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA uc003hck.2 - 1 1084_1110 c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC c.(1009-1035)TACCGTGGGGACGTCTACTTAGTGGGCdel p.YRGDVYLVG337del POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 337_345 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) CGTTGGTGGCGCCCACTAAGTAGACGTCCCCACGGTAGCGCCAGGAG 0.612 NaN NaN NaN NaN NaN NaN 9 87 --- --- FBXW7 55294 broad.mit.edu 37 4 153245449 153245450 + Frame_Shift_Ins INS - - G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr4:153245449_153245450insG uc003ims.2 - 11 1890_1891 c.1741_1742insC c.(1741-1743)CAGfs p.Q581fs FBXW7_uc011cii.1_Frame_Shift_Ins_p.Q581fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.Q581fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.Q405fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.Q501fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.Q463fs NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 581 WD 6. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.G579_Q581>E(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGTTAACGACTGGTGCCCTGTT 0.416 NaN Mis|N|D|F colorectal|endometrial|T-ALL NaN NaN NaN NaN NaN 12 56 --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:24492973delA uc003jgr.1 - 10 1909 c.1577delT c.(1576-1578)TTCfs p.F526fs CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 526 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 NaN HNSCC(23;0.051) NaN NaN NaN NaN NaN 10 399 --- --- PTTG1 9232 broad.mit.edu 37 5 159849713 159849715 + Splice_Site DEL CAG CAG - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr5:159849713_159849715delCAG uc003lyj.2 + 3 137 c.92_splice c.e3-1 p.S31_splice PTTG1_uc003lyk.2_Splice_Site_p.S31_splice NM_004219 NP_004210 O95997 PTTG1_HUMAN pituitary tumor-transforming protein 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) ACTTTTTCTTCAGCAATCAAAGC 0.424 NaN NaN NaN NaN NaN NaN 20 94 --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA uc003zch.2 + 12 1321 c.1267_splice c.e12+1 p.D423_splice ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice NM_174922 NP_777582 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 integral to membrane protein serine/threonine kinase activity stomach(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.66 NaN NaN NaN NaN NaN NaN 3 4 --- --- TLR4 7099 broad.mit.edu 37 9 120470999 120471017 + Splice_Site DEL TTTATCCAGGTAATGAATC TTTATCCAGGTAATGAATC - rs148067660 by1000genomes TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chr9:120470999_120471017delTTTATCCAGGTAATGAATC uc004bjz.2 + 2 551 c.260_splice c.e2+1 p.R87_splice TLR4_uc004bka.2_Splice_Site_p.R47_splice|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AGGTGCTGGATTTATCCAGGTAATGAATCCACTTTTACA 0.438 NaN NaN NaN NaN NaN NaN 43 132 --- --- AMMECR1 9949 broad.mit.edu 37 X 109459809 109459823 + In_Frame_Del DEL CCGTGGCAGCTCATC CCGTGGCAGCTCATC - TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c628df6-a848-4177-87b8-714788118980 d637d039-a319-4a5d-a99e-54e8f81096e7 g.chrX:109459809_109459823delCCGTGGCAGCTCATC uc004eoo.2 - 3 703_717 c.622_636delGATGAGCTGCCACGG c.(622-636)GATGAGCTGCCACGGdel p.DELPR208del AMMECR1_uc004eop.2_In_Frame_Del_p.DELPR171del|AMMECR1_uc004eoq.2_In_Frame_Del_p.DELPR85del NM_015365 NP_056180 Q9Y4X0 AMER1_HUMAN AMMECR1 protein isoform 1 208_212 AMMECR1. 0 AGCAGAAAAGCCGTGGCAGCTCATCCCTTGTCATT 0.377 NaN NaN NaN NaN NaN NaN 23 61 --- ---