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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ESPN 83715 broad.mit.edu 37 1 6488379 6488379 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:6488379G>A uc001amy.2 + 2 556 c.388G>A c.(388-390)GAC>AAC p.D130N NM_031475 NP_113663 B1AK53 ESPN_HUMAN espin 130 ANK 4. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding 0 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) TGGCGGTGGGGACCCCACCGC 0.632 NA 33 63 0 0 0.010818 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13718412 13718412 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:13718412A>G uc009vnz.1 + 3 905 c.875A>G c.(874-876)AAG>AGG p.K292R NM_001099851 NP_001093321 Q5VTA0 PRA17_HUMAN PRAME family member 17 292 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGGTGCCTCAAGAACCCCTTG 0.493 NA 15 196 0 0 0.021523 0 0 PRDM2 7799 broad.mit.edu 37 1 14108929 14108929 + Missense_Mutation SNP C C T rs144820187 by1000genomes TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:14108929C>T uc001avi.2 + 8 5495 c.4639C>T c.(4639-4641)CCC>TCC p.P1547S PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P1547S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P1346S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1547 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGTCCCACTTCCCTCCTCATC 0.547 NA 6 91 0 0 0.021553 0 0 LUZP1 7798 broad.mit.edu 37 1 23418835 23418835 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:23418835C>T uc001bgk.2 - 4 2304 c.1920G>A c.(1918-1920)CCG>CCA p.P640P LUZP1_uc010odv.1_Silent_p.P640P|LUZP1_uc001bgl.2_Silent_p.P640P|LUZP1_uc001bgm.1_Silent_p.P640P NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 640 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) AGGCTTCATGCGGACTGCTGT 0.468 NA 5 261 0 0 0.014758 0 0 FUCA1 2517 broad.mit.edu 37 1 24194554 24194554 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:24194554C>G uc001bie.2 - 1 268 c.223G>C c.(223-225)GAG>CAG p.E75Q FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 75 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) CAGAACCACTCGCTGCCCCAG 0.687 NA 5 21 0 0 0.021553 0 0 C1orf63 57035 broad.mit.edu 37 1 25573111 25573111 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:25573111G>C uc001bjw.2 - 2 596 c.344C>G c.(343-345)TCC>TGC p.S115C NM_020317 NP_064713 Q9BUV0 CA063_HUMAN hypothetical protein LOC57035 115 Arg-rich. pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCTGCTACGGGACCGGGACCG 0.677 NA 27 64 0 0 0.024334 0 0 EYA3 2140 broad.mit.edu 37 1 28384528 28384528 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:28384528C>G uc001bpi.1 - 2 175 c.10G>C c.(10-12)GAG>CAG p.E4Q EYA3_uc010ofs.1_5'UTR|EYA3_uc010oft.1_Missense_Mutation_p.E4Q|EYA3_uc001bpj.2_Missense_Mutation_p.E4Q|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 4 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) AAATCTTGCTCTTCTTCCATG 0.313 NA 21 203 0 0 0.024334 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069903 29069903 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:29069903C>T uc001brc.2 + 4 1618 c.1121C>T c.(1120-1122)TCT>TTT p.S374F YTHDF2_uc001brd.2_Missense_Mutation_p.S371F|YTHDF2_uc010ofx.1_Missense_Mutation_p.S324F|YTHDF2_uc001bre.2_Missense_Mutation_p.S324F NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 374 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GTAGGACAGTCTCAGGCTGGT 0.527 NA 37 78 0 0 0.017118 0 0 MYCL1 4610 broad.mit.edu 37 1 40363105 40363105 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:40363105C>G uc001cer.1 - 3 1251 c.1034G>C c.(1033-1035)AGA>ACA p.R345T MYCL1_uc001ces.1_Missense_Mutation_p.R345T NM_001033082 NP_001028254 P12524 MYCL1_HUMAN l-myc-1 proto-oncogene isoform 1 345 Leucine-zipper. nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|liver(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCGGAGCTGTCTTTTCTCTGT 0.522 NA A small cell lung 60 98 0 0 0.01441 0 0 EIF2B3 8891 broad.mit.edu 37 1 45347297 45347297 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:45347297C>T uc001cmt.1 - 7 898 c.771G>A c.(769-771)GAG>GAA p.E257E EIF2B3_uc001cmu.1_Silent_p.E257E|EIF2B3_uc001cmv.1_Silent_p.E257E|EIF2B3_uc001cmw.2_Silent_p.E257E NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 257 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AGGACTTCAGCTCCTTTTTCT 0.468 Colon(26;357 658 2581 11857 12657) NA 63 173 0 0 0.01441 0 0 MYSM1 114803 broad.mit.edu 37 1 59139252 59139252 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:59139252G>A uc009wab.1 - 11 1588 c.1565C>T c.(1564-1566)ACG>ATG p.T522M MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 522 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TACCTCAAACGTTTGTCCTTC 0.383 NA 4 69 0 0 0.014758 0 0 DOCK7 85440 broad.mit.edu 37 1 63113915 63113915 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:63113915C>G uc001daq.2 - 6 628 c.594G>C c.(592-594)TTG>TTC p.L198F DOCK7_uc001dan.2_Missense_Mutation_p.L90F|DOCK7_uc001dao.2_Missense_Mutation_p.L90F|DOCK7_uc001dap.2_Missense_Mutation_p.L198F|DOCK7_uc009wah.1_Missense_Mutation_p.L198F NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 198 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GTGAATTTTTCAAGTCAAAGA 0.383 NA 42 66 0 0 0.010771 0 0 LRRC40 55631 broad.mit.edu 37 1 70611554 70611554 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:70611554G>T uc001der.1 - 15 1790 c.1738C>A c.(1738-1740)CCT>ACT p.P580T NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 580 LRR 20. ovary(1) 1 GCTGCTCGAGGAACTCGGAAT 0.348 NA 9 60 2.74318e-10 3.12335e-10 0.006214 1 0 CLCA4 22802 broad.mit.edu 37 1 87031004 87031004 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:87031004G>A uc009wcs.2 + 5 649 c.605G>A c.(604-606)GGA>GAA p.G202E CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_Missense_Mutation_p.G22E NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 202 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AAGTGTCAAGGAGGCAGCTGT 0.358 NA 4 87 0 0 0.009096 0 0 RPL5 6125 broad.mit.edu 37 1 93306114 93306114 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:93306114G>T uc001doz.2 + 7 790 c.712G>T c.(712-714)GAG>TAG p.E238* FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Nonsense_Mutation_p.E188*|RPL5_uc001dpd.2_Nonsense_Mutation_p.E39*|SNORA66_uc009wdi.1_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 238 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TCAGATGGAGGAGATGTATAA 0.363 NA 34 99 6.53348e-20 7.93486e-20 0.017118 1 0 ABCA4 24 broad.mit.edu 37 1 94508894 94508894 + Nonsense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:94508894G>C uc001dqh.2 - 21 3292 c.3188C>G c.(3187-3189)TCA>TGA p.S1063* NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1063 Cytoplasmic.|ABC transporter 1. S -> P (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTGAGCACCTGATAGGTCCTG 0.592 NA 10 60 0 0 0.008291 0 0 RTCD1 8634 broad.mit.edu 37 1 100757055 100757055 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:100757055C>T uc001dtc.2 + 11 1314 c.1096C>T c.(1096-1098)CTA>TTA p.L366L RTCD1_uc001dtd.2_Silent_p.L379L NM_003729 NP_003720 O00442 RTC1_HUMAN RNA terminal phosphate cyclase domain 1 isoform 366 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) AAATCCAAATCTATAGAGTAT 0.303 NA 8 252 0 0 0.00308 0 0 VCAM1 7412 broad.mit.edu 37 1 101186146 101186146 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:101186146G>A uc001dti.2 + 2 299 c.179G>A c.(178-180)AGA>AAA p.R60K VCAM1_uc001dtj.2_Missense_Mutation_p.R60K|VCAM1_uc010ouj.1_Intron NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 60 Ig-like C2-type 1.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTCTCTTGGAGAACCCAGATA 0.478 NA 22 55 0 0 0.010504 0 0 COL11A1 1301 broad.mit.edu 37 1 103462666 103462666 + Silent SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:103462666T>C uc001dul.2 - 26 2529 c.2211A>G c.(2209-2211)AAA>AAG p.K737K COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.K749K|COL11A1_uc001dun.2_Silent_p.K698K|COL11A1_uc009weh.2_Silent_p.K621K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 737 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACTGGCCTTCTTTCCCAGGAT 0.328 NA 7 445 0 0 0.008291 0 0 AMPD2 271 broad.mit.edu 37 1 110172893 110172893 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:110172893C>T uc009wfh.1 + 17 2726 c.2184C>T c.(2182-2184)ATC>ATT p.I728I AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.I647I|AMPD2_uc001dyc.1_Silent_p.I728I|AMPD2_uc010ovr.1_Silent_p.I653I|AMPD2_uc001dyd.1_Silent_p.I609I|AMPD2_uc001dye.1_5'UTR NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 728 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TGGCCCAGATCGGCATCGCCA 0.652 NA 65 129 0 0 0.01441 0 0 SYCP1 6847 broad.mit.edu 37 1 115456644 115456644 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:115456644C>G uc001efr.2 + 20 1905 c.1696C>G c.(1696-1698)CAA>GAA p.Q566E SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.Q566E|SYCP1_uc009wgw.2_Missense_Mutation_p.Q566E NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 566 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAATCTTCAAGAAACAGA 0.239 NA 18 36 0 0 0.007413 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302756 145302756 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:145302756C>T uc001end.3 + 8 1229 c.1194C>T c.(1192-1194)CTC>CTT p.L398L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L127L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATGAGCATCTCCAGGCCCTCC 0.552 NA 12 344 0 0 0.013537 0 0 POLR3C 10623 broad.mit.edu 37 1 145598609 145598609 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:145598609C>T uc001eoh.2 - 8 1045 c.884G>A c.(883-885)AGA>AAA p.R295K NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Missense_Mutation_p.R308K|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.R295K NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 295 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) AGGTAGGGATCTGAAGATCTA 0.343 NA 42 139 0 0 0.009718 0 0 MTMR11 10903 broad.mit.edu 37 1 149901597 149901597 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:149901597G>A uc001etl.3 - 16 2110 c.1859C>T c.(1858-1860)CCA>CTA p.P620L SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.P548L NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 620 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAGCAGCCCTGGAGGTAAAGG 0.587 NA 35 170 0 0 0.013726 0 0 RFX5 5993 broad.mit.edu 37 1 151314991 151314991 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:151314991C>T uc001exv.1 - 11 1736 c.1522G>A c.(1522-1524)GAA>AAA p.E508K RFX5_uc001exw.1_Missense_Mutation_p.E508K|RFX5_uc009wmr.1_Missense_Mutation_p.E508K|RFX5_uc010pcx.1_Missense_Mutation_p.E468K NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 508 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAGTTGCCTTCCCCTCCTGAG 0.577 NA 72 210 0 0 0.01441 0 0 CD1A 909 broad.mit.edu 37 1 158225933 158225933 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:158225933G>T uc001frt.2 + 3 998 c.465G>T c.(463-465)GGG>GGT p.G155G NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 155 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CAGTGGCTGGGAATATGGCCA 0.443 NA 33 90 1.22384e-17 1.46511e-17 0.013726 1 0 OR10R2 343406 broad.mit.edu 37 1 158450025 158450025 + Nonsense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:158450025C>T uc010pik.1 + 1 358 c.358C>T c.(358-360)CAA>TAA p.Q120* uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TTGTGCTCTTCAAATGTTCTT 0.453 NA 121 354 0 0 0.01441 0 0 SPTA1 6708 broad.mit.edu 37 1 158596652 158596652 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:158596652G>T uc001fst.1 - 41 6009 c.5810C>A c.(5809-5811)GCT>GAT p.A1937D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1937 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TACCACATCAGCCTTCCAGTT 0.463 NA 15 274 1.3612e-06 1.48527e-06 0.024245 1 0 MNDA 4332 broad.mit.edu 37 1 158815572 158815572 + Silent SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:158815572T>C uc001fsz.1 + 5 966 c.766T>C c.(766-768)TTG>CTG p.L256L NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 256 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) CGACATCAACTTGAAAGAGAA 0.363 NA 6 59 0 0 0.021553 0 0 IFI16 3428 broad.mit.edu 37 1 159019381 159019381 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:159019381T>G uc001ftg.2 + 8 1779 c.1489T>G c.(1489-1491)TTA>GTA p.L497V IFI16_uc010pis.1_Missense_Mutation_p.L497V|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Intron NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 497 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) CAGCAGTTTCTTAACCACGGT 0.498 NA 37 248 0 0 0.01441 0 0 FCER1A 2205 broad.mit.edu 37 1 159277622 159277622 + Nonsense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:159277622C>G uc001ftq.2 + 6 773 c.674C>G c.(673-675)TCA>TGA p.S225* NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 225 Cytoplasmic (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TTATTTATCTCAACTCAGCAG 0.438 NA 30 80 0 0 0.008361 0 0 DUSP27 92235 broad.mit.edu 37 1 167097297 167097297 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:167097297A>G uc001geb.1 + 5 2929 c.2929A>G c.(2929-2931)AGT>GGT p.S977G NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 977 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TAAATCCTCCAGTTACAAGTT 0.498 NA 20 75 0 0 0.008871 0 0 SELE 6401 broad.mit.edu 37 1 169697307 169697307 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:169697307C>G uc001ggm.3 - 8 1328 c.1171G>C c.(1171-1173)GGG>CGG p.G391R C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 391 Sushi 4.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) CAGCTGGACCCATAACGGAAA 0.532 NA 29 143 0 0 0.009535 0 0 PRRX1 5396 broad.mit.edu 37 1 170695456 170695456 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:170695456C>T uc001ghf.2 + 3 560 c.513C>T c.(511-513)GAC>GAT p.D171D PRRX1_uc001ghe.2_Silent_p.D171D NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 171 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTCAGGAGACGTGACTGCTG 0.557 NA 10 52 0 0 0.006214 0 0 C1orf129 80133 broad.mit.edu 37 1 170934337 170934337 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:170934337A>G uc001ghg.2 + 7 551 c.421A>G c.(421-423)AGA>GGA p.R141G C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.R141G NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 141 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTGCAAGAGAGAATAATGGT 0.363 NA 30 151 0 0 0.017118 0 0 SLC9A11 284525 broad.mit.edu 37 1 173472449 173472449 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:173472449G>A uc001giz.2 - 27 3750 c.3327C>T c.(3325-3327)GTC>GTT p.V1109V SLC9A11_uc009wwe.2_Silent_p.V667V NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 1109 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GTTGTTCAAAGACCGTGTTGA 0.294 NA 16 60 0 0 0.028581 0 0 ASTN1 460 broad.mit.edu 37 1 176853571 176853571 + Nonsense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:176853571C>A uc001glc.2 - 19 3342 c.3130G>T c.(3130-3132)GAA>TAA p.E1044* ASTN1_uc001glb.1_Nonsense_Mutation_p.E1044*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E1044* NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1052 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCTGAGTGTTCCCACTCCAGG 0.537 NA 16 106 3.41278e-10 3.85433e-10 0.00499 1 0 FAM5C 339479 broad.mit.edu 37 1 190424018 190424018 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:190424018C>G uc001gse.1 - 2 235 c.3G>C c.(1-3)ATG>ATC p.M1I FAM5C_uc010pot.1_5'UTR NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 1 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTCGCCATATCATGCTTCCAC 0.463 NA 10 34 0 0 0.008291 0 0 KCNT2 343450 broad.mit.edu 37 1 196309587 196309587 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:196309587G>T uc001gtd.1 - 16 1727 c.1667C>A c.(1666-1668)ACC>AAC p.T556N KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T506N|KCNT2_uc001gtf.1_Missense_Mutation_p.T556N|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T556N|KCNT2_uc001gth.1_Missense_Mutation_p.T77N NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 556 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CTCTTCTTTGGTAATATTAAT 0.358 NA 5 136 1.23904e-05 1.34497e-05 0.014758 1 0 CENPF 1063 broad.mit.edu 37 1 214830338 214830338 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:214830338C>T uc001hkm.2 + 18 8722 c.8548C>T c.(8548-8550)CTT>TTT p.L2850F NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2946 Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAAAGAAACTCTTGAAGAAAA 0.368 Colon(80;575 1284 11000 14801 43496) NA 15 62 0 0 0.024245 0 0 USH2A 7399 broad.mit.edu 37 1 216371906 216371906 + Missense_Mutation SNP G G C rs150978513 by1000genomes TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:216371906G>C uc001hku.1 - 18 4219 c.3832C>G c.(3832-3834)CTA>GTA p.L1278V USH2A_uc001hkv.2_Missense_Mutation_p.L1278V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1278 Fibronectin type-III 3.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCATGTATAGTTCATATCTT 0.388 NA HNSCC(13;0.011) 13 50 0 0 0.028581 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125264 226125264 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:226125264C>A uc001hpt.1 - 4 1058 c.978G>T c.(976-978)ATG>ATT p.M326I LEFTY2_uc010pvk.1_Missense_Mutation_p.M292I|LEFTY2_uc009xek.1_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 326 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) TGCTGACGATCATGGGCAGCG 0.662 Colon(172;116 2643 9098 43333) NA 15 49 1.3612e-06 1.48527e-06 0.024245 1 0 MTR 4548 broad.mit.edu 37 1 237057846 237057846 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:237057846C>T uc001hyi.3 + 30 3817 c.3394C>T c.(3394-3396)CGG>TGG p.R1132W MTR_uc010pxw.1_Missense_Mutation_p.R725W|MTR_uc010pxx.1_Missense_Mutation_p.R1081W|MTR_uc010pxy.1_Missense_Mutation_p.R986W NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1132 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCTGGGGGACCGGCTGGCAGA 0.612 NA 10 82 0 0 0.006214 0 0 RYR2 6262 broad.mit.edu 37 1 237806644 237806644 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:237806644G>C uc001hyl.1 + 48 7359 c.7239G>C c.(7237-7239)AAG>AAC p.K2413N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2413 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGCCGGGAAGGGAGAAGCCA 0.413 NA 65 223 0 0 0.01441 0 0 RYR2 6262 broad.mit.edu 37 1 237947171 237947171 + Missense_Mutation SNP G G C rs41267517 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:237947171G>C uc001hyl.1 + 90 12279 c.12159G>C c.(12157-12159)GAG>GAC p.E4053D RYR2_uc010pya.1_Missense_Mutation_p.E468D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4053 EF-hand. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCGATGGAGAGCCATAAGC 0.448 NA 4 40 0 0 0.009096 0 0 SCCPDH 51097 broad.mit.edu 37 1 246922379 246922379 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:246922379C>G uc001ibr.2 + 7 1086 c.739C>G c.(739-741)CCT>GCT p.P247A NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 247 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) TTATTCCATTCCTTTTATGGG 0.363 NA 41 172 0 0 0.011902 0 0 AHCTF1 25909 broad.mit.edu 37 1 247068858 247068858 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:247068858T>C uc001ibu.1 - 5 873 c.866A>G c.(865-867)CAG>CGG p.Q289R AHCTF1_uc001ibv.1_Missense_Mutation_p.Q298R NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 289 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTGTGTAGACTGAACAGCCCA 0.264 Colon(145;197 1800 4745 15099 26333) NA 29 73 0 0 0.012213 0 0 OR1C1 26188 broad.mit.edu 37 1 247921160 247921160 + Silent SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:247921160A>G uc010pza.1 - 1 549 c.549T>C c.(547-549)CCT>CCC p.P183P NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCTGCAGGAGAGGATTGAGAT 0.468 NA 13 36 0 0 0.028581 0 0 OR2M4 26245 broad.mit.edu 37 1 248402282 248402282 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:248402282T>G uc010pzh.1 + 1 52 c.52T>G c.(52-54)TTC>GTC p.F18V NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTGGGAATCTTCAATCACAG 0.438 NA 15 177 0 0 0.007413 0 0 OR2T2 401992 broad.mit.edu 37 1 248616758 248616758 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:248616758G>A uc001iek.1 + 1 660 c.660G>A c.(658-660)ACG>ACA p.T220T NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 220 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCCTACACGCACATCCTCC 0.527 NA 31 17 0 0 0.007291 0 0 OR2T10 127069 broad.mit.edu 37 1 248756476 248756476 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:248756476G>A uc010pzn.1 - 1 594 c.594C>T c.(592-594)TTC>TTT p.F198F NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAAGTACATGAAAATCTTGT 0.448 NA 20 92 0 0 0.007413 0 0 LARP4B 23185 broad.mit.edu 37 10 875438 875438 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:875438C>T uc001ifs.1 - 10 1053 c.1012G>A c.(1012-1014)GCG>ACG p.A338T NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 338 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 AACGACGTCGCGTAGCGCTGC 0.532 NA 5 52 0 0 0.014758 0 0 KLF6 1316 broad.mit.edu 37 10 3822298 3822298 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:3822298C>A uc001iha.2 - 3 1067 c.800G>T c.(799-801)AGG>ATG p.R267M KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.R225M NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 267 C2H2-type 3. B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) AGGCACGTACCTGTCACAGTG 0.552 NA 12 33 1.5842e-08 1.77008e-08 0.016723 1 0 DCLRE1C 64421 broad.mit.edu 37 10 14987175 14987175 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:14987175G>C uc001inn.2 - 3 260 c.175C>G c.(175-177)CTA>GTA p.L59V DCLRE1C_uc010qbx.1_Missense_Mutation_p.L59V|DCLRE1C_uc001inl.2_Translation_Start_Site|DCLRE1C_uc009xji.2_Translation_Start_Site|DCLRE1C_uc001inm.2_Translation_Start_Site|DCLRE1C_uc001ino.2_Translation_Start_Site|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Translation_Start_Site|DCLRE1C_uc001inq.2_Translation_Start_Site|DCLRE1C_uc001inr.2_Intron NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 59 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 GAACAGTATAGATAAACCTTC 0.299 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 23 27 0 0 0.00632 0 0 CUBN 8029 broad.mit.edu 37 10 16994356 16994356 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:16994356C>T uc001ioo.2 - 33 4940 c.4888G>A c.(4888-4890)GAT>AAT p.D1630N NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1630 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAACAGTATCAAATGAGCTG 0.433 NA 21 106 0 0 0.010504 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762918 24762918 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:24762918C>T uc001iru.3 + 6 2011 c.1608C>T c.(1606-1608)CTC>CTT p.L536L KIAA1217_uc001irs.2_Silent_p.L456L|KIAA1217_uc001irt.3_Silent_p.L536L|KIAA1217_uc010qcy.1_Silent_p.L536L|KIAA1217_uc010qcz.1_Silent_p.L536L|KIAA1217_uc001irv.1_Silent_p.L386L|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.L254L|KIAA1217_uc001irz.2_Silent_p.L254L|KIAA1217_uc001irx.2_Silent_p.L254L|KIAA1217_uc001iry.2_Silent_p.L254L NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 536 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TTGTAGACCTCGGCCCTCCTC 0.557 NA 7 78 0 0 0.004482 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762928 24762928 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:24762928C>G uc001iru.3 + 6 2021 c.1618C>G c.(1618-1620)CTA>GTA p.L540V KIAA1217_uc001irs.2_Missense_Mutation_p.L460V|KIAA1217_uc001irt.3_Missense_Mutation_p.L540V|KIAA1217_uc010qcy.1_Missense_Mutation_p.L540V|KIAA1217_uc010qcz.1_Missense_Mutation_p.L540V|KIAA1217_uc001irv.1_Missense_Mutation_p.L390V|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.L258V|KIAA1217_uc001irz.2_Missense_Mutation_p.L258V|KIAA1217_uc001irx.2_Missense_Mutation_p.L258V|KIAA1217_uc001iry.2_Missense_Mutation_p.L258V NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 540 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CGGCCCTCCTCTAATGGAGAA 0.552 NA 5 76 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 10 48902261 48902261 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:48902261C>T uc009xnv.2 - 3 718 c.612G>A c.(610-612)AAG>AAA p.K204K NM_001077686 NP_001071154 ArfGAP with GTPase domain, ankyrin repeat and PH NA TGGTGCTTTTCTTCTTTAGGT 0.527 NA 22 26 0 0 0.010818 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391780 75391780 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:75391780G>C uc001jur.2 - 6 1173 c.808C>G c.(808-810)CGA>GGA p.R270G NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN myozenin 1 270 myofibril assembly nucleus|pseudopodium FATZ binding ovary(2) 2 Prostate(51;0.0112) ATAGGGGTTCGATTGAAAGAA 0.537 NA 21 33 0 0 0.010504 0 0 VWA2 340706 broad.mit.edu 37 10 116045881 116045881 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:116045881C>T uc001lbl.1 + 11 1502 c.1181C>T c.(1180-1182)GCG>GTG p.A394V VWA2_uc001lbk.1_Missense_Mutation_p.A394V|VWA2_uc009xyf.1_Missense_Mutation_p.A90V NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 394 VWFA 2. extracellular region ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Epithelial(162;0.036)|all cancers(201;0.0793) CTGCTGGTGGCGGTGCCTGTG 0.667 NA 9 97 0 0 0.006214 0 0 KNDC1 85442 broad.mit.edu 37 10 135038376 135038376 + Missense_Mutation SNP G G A rs141333921 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:135038376G>A uc001llz.1 + 30 5233 c.5232G>A c.(5230-5232)ATG>ATA p.M1744I NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1744 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TACGGAGGATGAAGGCTACAT 0.612 NA 3 19 0 0 0.004672 0 0 MUC2 4583 broad.mit.edu 37 11 1096391 1096391 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:1096391G>A uc001lsx.1 + 37 13529 c.13502G>A c.(13501-13503)GGC>GAC p.G4501D NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4501 VWFD 4. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGCTACCAGGGCAACTGCACC 0.602 NA 3 55 0 0 0.004672 0 0 SLC22A18 5002 broad.mit.edu 37 11 2929522 2929522 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:2929522C>T uc001lwx.2 + 3 422 c.204C>T c.(202-204)TTC>TTT p.F68F SLC22A18_uc001lwy.2_Silent_p.F68F|SLC22A18_uc001lwz.2_Silent_p.F68F NM_183233 NP_899056 Q96BI1 S22AI_HUMAN tumor suppressing subtransferable candidate 5 68 Helical; (Potential). excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|ovary(1) 3 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) AAACCACCTTCGGGGTGCTGC 0.627 NA 7 46 0 0 0.008291 0 0 OR52R1 119695 broad.mit.edu 37 11 4825130 4825130 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:4825130G>T uc010qym.1 - 1 718 c.718C>A c.(718-720)CCC>ACC p.P240T NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 161 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGCAGAAGGGGCTCACCCAC 0.562 NA 18 62 3.41278e-10 3.85433e-10 0.00499 1 0 OR51A4 401666 broad.mit.edu 37 11 4967632 4967632 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:4967632C>A uc010qys.1 - 1 699 c.699G>T c.(697-699)AAG>AAT p.K233N NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TAAGCTGCTCCTTTTTGGATG 0.468 NA 33 50 8.16721e-17 9.66684e-17 0.010818 1 0 OR2D2 120776 broad.mit.edu 37 11 6913260 6913260 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:6913260C>A uc010rau.1 - 1 472 c.472G>T c.(472-474)GTA>TTA p.V158L NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGGTGTCTACCACAGACACC 0.498 NA 19 51 1.67942e-08 1.87148e-08 0.006122 1 0 TPH1 7166 broad.mit.edu 37 11 18057575 18057575 + Missense_Mutation SNP G G C rs146455709 byFrequency TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:18057575G>C uc001mnp.2 - 2 258 c.232C>G c.(232-234)CAT>GAT p.H78D TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 78 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TTCAGCAGATGAAAAATATCA 0.323 NA 4 76 0 0 0.014758 0 0 NAV2 89797 broad.mit.edu 37 11 19970312 19970312 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:19970312G>T uc010rdm.1 + 11 2761 c.2400G>T c.(2398-2400)AGG>AGT p.R800S NAV2_uc001mpp.2_Missense_Mutation_p.R713S|NAV2_uc001mpr.3_Missense_Mutation_p.R777S NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 800 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TGACAGGGAGGCCCACACCTC 0.572 NA 11 60 3.07112e-06 3.34233e-06 0.010729 1 0 PAMR1 25891 broad.mit.edu 37 11 35453913 35453913 + Silent SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:35453913A>G uc001mwg.2 - 11 2197 c.2154T>C c.(2152-2154)AAT>AAC p.N718N PAMR1_uc001mwf.2_Silent_p.N735N|PAMR1_uc010rew.1_Silent_p.N607N|PAMR1_uc010rex.1_Silent_p.N678N NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 718 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 TTCATTTCATATTTCTTTCAA 0.463 NA 6 61 0 0 0.001984 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36103258 36103258 + Silent SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:36103258T>C uc001mwk.1 + 3 286 c.249T>C c.(247-249)CAT>CAC p.H83H LDLRAD3_uc010rey.1_Silent_p.H34H|LDLRAD3_uc010rez.1_5'UTR NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 83 Extracellular (Potential).|LDL-receptor class A 2. integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) GCGGCATCCATTGCATCATTG 0.517 NA 8 110 0 0 0.00308 0 0 OR5L2 26338 broad.mit.edu 37 11 55594902 55594902 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:55594902G>A uc001nhy.1 + 1 208 c.208G>A c.(208-210)GAT>AAT p.D70N NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GTCCTTTGTAGATTTCTGCTA 0.463 NA HNSCC(27;0.073) 91 194 0 0 0.01441 0 0 OR5I1 10798 broad.mit.edu 37 11 55703807 55703807 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:55703807C>T uc010ris.1 - 1 70 c.70G>A c.(70-72)GAA>AAA p.E24K NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCTGCAGTTCAGGGCGAGTT 0.378 NA 4 30 0 0 0.021553 0 0 OR8J3 81168 broad.mit.edu 37 11 55904846 55904846 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:55904846C>A uc010riz.1 - 1 349 c.349G>T c.(349-351)GTG>TTG p.V117L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TAGGCCATCACAGCCAGCATC 0.488 NA 37 93 5.43694e-19 6.58404e-19 0.023175 1 0 OR5T1 390155 broad.mit.edu 37 11 56043714 56043714 + Silent SNP T T A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:56043714T>A uc001nio.1 + 1 600 c.600T>A c.(598-600)TCT>TCA p.S200S NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TTGCTATTTCTTGTTCTGACA 0.398 NA 19 242 0 0 0.008871 0 0 OR5M3 219482 broad.mit.edu 37 11 56237502 56237502 + Missense_Mutation SNP T T G rs148100298 by1000genomes TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:56237502T>G uc010rjk.1 - 1 472 c.472A>C c.(472-474)ACA>CCA p.T158P NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T158A(1) ovary(2) 2 Esophageal squamous(21;0.00448) GTCCATAATGTTGCTGCCAGA 0.428 NA 4 143 0 0 0.009096 0 0 SLC15A3 51296 broad.mit.edu 37 11 60714087 60714087 + Silent SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:60714087G>C uc001nqn.2 - 2 999 c.765C>G c.(763-765)CCC>CCG p.P255P SLC15A3_uc001nqo.2_Silent_p.P255P NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 255 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 TGCCCATCGGGGGCTTGGTGA 0.587 NA 23 59 0 0 0.01892 0 0 RBM14 10432 broad.mit.edu 37 11 66391877 66391877 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:66391877G>A uc001oit.2 + 2 669 c.530G>A c.(529-531)GGA>GAA p.G177E RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 177 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GCCTTCCCTGGAACTGGTGGC 0.597 NA 21 33 0 0 0.012319 0 0 CCND1 595 broad.mit.edu 37 11 69458698 69458699 + Missense_Mutation DNP GG GG TA TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:69458698_69458699GG>TA uc001opa.2 + 3 722_723 c.513_514GG>TA c.(511-516)GCGGAG>GCTAAG p.E172K NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 172 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TGCCAGAGGCGGAGGAGAACAA 0.589 Pancreas(65;393 884 2788 21700 24360 27795 36895) NA T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 27 36 0 0 0.004672 0 0 RNF121 55298 broad.mit.edu 37 11 71701662 71701662 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:71701662A>G uc001ora.2 + 6 866 c.526A>G c.(526-528)ATG>GTG p.M176V RNF121_uc001ord.2_Missense_Mutation_p.M95V|RNF121_uc001orb.2_Missense_Mutation_p.M144V|RNF121_uc009yst.2_Missense_Mutation_p.M144V NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 176 Helical; (Potential). integral to membrane zinc ion binding 0 AGAAGATGCCATGGACTTTGG 0.473 NA 53 119 0 0 0.01441 0 0 NUMA1 4926 broad.mit.edu 37 11 71727042 71727042 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:71727042G>A uc001orl.1 - 15 1679 c.1507C>T c.(1507-1509)CTG>TTG p.L503L NUMA1_uc009ysw.1_Silent_p.L66L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L503L|NUMA1_uc001orn.2_Silent_p.L66L|NUMA1_uc009ysx.1_Silent_p.L503L|NUMA1_uc001oro.1_Silent_p.L503L NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 503 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 TCAGAGGTCAGAGAGGCCACC 0.612 NA T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 116 0 0 0.028581 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73075516 73075516 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:73075516G>C uc001otu.2 + 18 5442 c.5421G>C c.(5419-5421)CAG>CAC p.Q1807H NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1807 actin cytoskeleton organization|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 Rho guanyl-nucleotide exchange factor activity 0 GGGACCCCCAGAACTTCAAAT 0.448 NA 25 86 0 0 0.01892 0 0 RSF1 51773 broad.mit.edu 37 11 77388035 77388035 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:77388035C>T uc001oyn.2 - 13 3263 c.3143G>A c.(3142-3144)CGA>CAA p.R1048Q RSF1_uc001oym.2_Missense_Mutation_p.R796Q NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1048 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) ATCTTTTCCTCGGCCAACTCC 0.418 NA 7 117 0 0 0.00308 0 0 DDI1 414301 broad.mit.edu 37 11 103908057 103908057 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:103908057A>C uc001phr.2 + 1 750 c.507A>C c.(505-507)GAA>GAC p.E169D PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 169 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCTTGGCGGAAGCCCTGCTCA 0.602 NA 6 67 0 0 0.021553 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558341 106558341 + Silent SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:106558341A>C uc001pjg.1 - 8 2523 c.2133T>G c.(2131-2133)TCT>TCG p.S711S GUCY1A2_uc010rvo.1_Silent_p.S732S|GUCY1A2_uc009yxn.1_Silent_p.S742S NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 711 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTCTCGACGAAGAAAGAGAAG 0.478 NA 14 214 0 0 0.020292 0 0 USP28 57646 broad.mit.edu 37 11 113675628 113675628 + Silent SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:113675628C>A uc001poh.2 - 20 2574 c.2541G>T c.(2539-2541)CTG>CTT p.L847L USP28_uc001pog.2_Silent_p.L523L|USP28_uc010rwy.1_Silent_p.L690L|USP28_uc001poi.2_Silent_p.L170L NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 847 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CAAACTGTTCCAGAAGGGTTC 0.448 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 25 53 1.64293e-13 1.9069e-13 0.01892 1 0 TM7SF3 51768 broad.mit.edu 37 12 27128447 27128447 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:27128447C>T uc010sjl.1 - 11 1670 c.1432G>A c.(1432-1434)GTG>ATG p.V478M NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 478 integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) TGAAAAGGCACATTTGTGAAA 0.433 NA 21 56 0 0 0.008871 0 0 OVCH1 341350 broad.mit.edu 37 12 29617518 29617518 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:29617518C>A uc001rix.1 - 18 2047 c.2047G>T c.(2047-2049)GTA>TTA p.V683L NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 683 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GGGAGACATACTGGCCTCACC 0.463 NA 22 49 2.89027e-11 3.32698e-11 0.014323 1 0 TUBA1A 7846 broad.mit.edu 37 12 49578828 49578828 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:49578828C>G uc009zlf.2 - 4 1593 c.1321G>C c.(1321-1323)GAA>CAA p.E441Q TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.E441Q|TUBA1A_uc001rtq.2_Missense_Mutation_p.E288Q|TUBA1A_uc001rtr.2_Missense_Mutation_p.E288Q|TUBA1A_uc009zlg.2_Missense_Mutation_p.E288Q NM_006009 NP_006000 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 441 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity 0 CCCTCTCCTTCAACAGAATCC 0.463 Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451) NA 11 242 0 0 0.010729 0 0 TROAP 10024 broad.mit.edu 37 12 49724414 49724414 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:49724414G>A uc001rtx.3 + 13 1953 c.1786G>A c.(1786-1788)GAG>AAG p.E596K TROAP_uc009zlh.2_Missense_Mutation_p.E596K|TROAP_uc001rty.2_Intron NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 596 Cys-rich.|4 X 33 AA approximate tandem repeats.|3. cell adhesion cytoplasm ovary(1) 1 CTGTAGGATTGAGCCTGAGAT 0.627 NA 8 88 0 0 0.006214 0 0 ZC3H10 84872 broad.mit.edu 37 12 56514975 56514975 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:56514975G>A uc001sjp.1 + 3 818 c.629G>A c.(628-630)CGG>CAG p.R210Q NM_032786 NP_116175 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 210 nucleic acid binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.12) CCAAAACGCCGGCGAGGTGGA 0.557 NA 4 68 0 0 0.009096 0 0 CNPY2 10330 broad.mit.edu 37 12 56708678 56708678 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:56708678C>A uc001sku.1 - 3 702 c.161G>T c.(160-162)GGA>GTA p.G54V CNPY2_uc001skv.2_Missense_Mutation_p.G54V NM_014255 NP_055070 Q9Y2B0 CNPY2_HUMAN canopy 2 homolog precursor 54 Saposin B-type. endoplasmic reticulum|integral to plasma membrane protein binding 0 CCGGAAAGATCCCATCTGAAT 0.507 NA 46 87 1.19451e-25 1.48077e-25 0.01441 1 0 OSBPL8 114882 broad.mit.edu 37 12 76763494 76763494 + Missense_Mutation SNP T T A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:76763494T>A uc001sye.1 - 20 2643 c.2163A>T c.(2161-2163)AAA>AAT p.K721N OSBPL8_uc001syf.1_Missense_Mutation_p.K679N|OSBPL8_uc001syg.1_Missense_Mutation_p.K679N|OSBPL8_uc001syh.1_Missense_Mutation_p.K696N NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 721 lipid transport lipid binding ovary(1) 1 CATTTTTTGTTTTCCGATCCC 0.388 NA 13 78 0 0 0.024245 0 0 TSPAN19 144448 broad.mit.edu 37 12 85411261 85411261 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:85411261C>T uc009zsj.2 - 7 669 c.568G>A c.(568-570)GAG>AAG p.E190K NM_001100917 NP_001094387 P0C672 TSN19_HUMAN tetraspanin 19 190 integral to membrane ovary(1) 1 TTCAGTGGCTCATCACAAAAC 0.289 NA 8 17 0 0 0.004482 0 0 ATP2B1 490 broad.mit.edu 37 12 89992965 89992965 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:89992965C>T uc001tbh.2 - 19 3461 c.3280G>A c.(3280-3282)GAT>AAT p.D1094N ATP2B1_uc001tbg.2_Missense_Mutation_p.D1094N|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Missense_Mutation_p.D728N NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 1094 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TCAGCGTGATCAATCTCTTCA 0.453 NA 30 102 0 0 0.007291 0 0 USP44 84101 broad.mit.edu 37 12 95927518 95927518 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:95927518C>T uc001teg.2 - 2 659 c.515G>A c.(514-516)GGA>GAA p.G172E USP44_uc001teh.2_Missense_Mutation_p.G172E|USP44_uc009zte.2_Missense_Mutation_p.G169E NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 172 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 CTTTTTTCTTCCAATGGGTGA 0.363 NA 30 78 0 0 0.013726 0 0 GOLGA2B 55592 broad.mit.edu 37 12 100551822 100551822 + Nonsense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:100551822G>A uc001tgs.2 - 3 475 c.31C>T c.(31-33)CAG>TAG p.Q11* GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Nonsense_Mutation_p.Q11* NM_017600 NP_060070 golgi autoantigen, golgin subfamily a, 2-like 1 0 GGCATGGGCTGAGGCACCTCC 0.642 NA 10 32 0 0 0.006214 0 0 DRAM1 55332 broad.mit.edu 37 12 102302092 102302092 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:102302092C>T uc001tix.2 + 4 934 c.471C>T c.(469-471)TGC>TGT p.C157C DRAM1_uc010svv.1_Intron NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 157 apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 TCTCGACATGCCACATACGGA 0.443 NA 4 164 0 0 0.009096 0 0 IFT81 28981 broad.mit.edu 37 12 110618328 110618328 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:110618328G>A uc001tqi.2 + 12 1420 c.1290G>A c.(1288-1290)AGG>AGA p.R430R IFT81_uc001tqh.2_Silent_p.R430R|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 430 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 TTTTGCAGAGGACTGAAGAAC 0.343 NA 10 50 0 0 0.013537 0 0 SDS 10993 broad.mit.edu 37 12 113830941 113830941 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:113830941G>T uc001tvg.2 - 8 914 c.792C>A c.(790-792)ATC>ATA p.I264I NM_006843 NP_006834 P20132 SDHL_HUMAN serine dehydratase 264 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding pancreas(1) 1 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GCTCCACCAGGATCTTCTCAT 0.632 NA 36 72 3.66082e-28 4.56513e-28 0.023175 1 0 RBM19 9904 broad.mit.edu 37 12 114397877 114397877 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:114397877G>A uc009zwi.2 - 3 470 c.326C>T c.(325-327)CCA>CTA p.P109L RBM19_uc001tvn.3_Missense_Mutation_p.P109L|RBM19_uc001tvm.2_Missense_Mutation_p.P109L NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 109 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) CTTAATTTCTGGAGTAGTAGA 0.532 NA 30 87 0 0 0.009535 0 0 TESC 54997 broad.mit.edu 37 12 117513112 117513112 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:117513112C>A uc001twh.2 - 2 256 c.251G>T c.(250-252)AGA>ATA p.R84I TESC_uc001twi.2_RNA NM_017899 NP_060369 Q96BS2 TESC_HUMAN tescalcin 31 negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding 0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0297) CTGCTTAAATCTCCGATGGAG 0.498 NA 29 70 3.76114e-14 4.402e-14 0.019004 1 0 CCDC60 160777 broad.mit.edu 37 12 119909847 119909847 + Silent SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:119909847G>C uc001txe.2 + 3 684 c.219G>C c.(217-219)CTG>CTC p.L73L uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 73 Potential. ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TTGCTATTCTGAGGGAAGAGA 0.458 NA 50 105 0 0 0.01441 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353279 133353279 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr12:133353279G>A uc001ukz.1 - 21 4478 c.3919C>T c.(3919-3921)CTG>TTG p.L1307L GOLGA3_uc001ula.1_Silent_p.L1307L NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1307 Potential.|Gln-rich. 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) GTCAAGTCCAGCTGCTGCTTC 0.527 NA 43 77 0 0 0.013114 0 0 IFT88 8100 broad.mit.edu 37 13 21265279 21265279 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:21265279G>C uc001unh.2 + 28 2863 c.2467G>C c.(2467-2469)GAT>CAT p.D823H IFT88_uc001uni.2_Missense_Mutation_p.D814H|IFT88_uc001unj.2_Missense_Mutation_p.D813H|IFT88_uc010tcq.1_Missense_Mutation_p.D794H NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 823 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TGATTTTGCTGATGAAGAATT 0.373 NA 29 61 0 0 0.027356 0 0 ATP8A2 51761 broad.mit.edu 37 13 26043143 26043143 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:26043143G>A uc001uqk.2 + 2 247 c.105G>A c.(103-105)AAG>AAA p.K35K ATP8A2_uc010tdi.1_5'UTR|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_5'UTR NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, Error:Variant_position_missing_in_Q9NTI2_after_alignment ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TGGGCTATAAGAAGGCAGAGG 0.557 NA 9 76 0 0 0.004482 0 0 ATP8A2 51761 broad.mit.edu 37 13 26436463 26436463 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:26436463A>C uc001uqk.2 + 33 3242 c.3100A>C c.(3100-3102)AGC>CGC p.S1034R ATP8A2_uc010tdi.1_Missense_Mutation_p.S969R|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.S584R NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 994 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TGTCTGGGGAAGCATGCTGAC 0.527 NA 10 84 0 0 0.010729 0 0 USPL1 10208 broad.mit.edu 37 13 31232310 31232310 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:31232310A>T uc001utc.2 + 9 2528 c.2096A>T c.(2095-2097)GAC>GTC p.D699V USPL1_uc001utd.2_Missense_Mutation_p.D370V|USPL1_uc001ute.1_Missense_Mutation_p.D370V NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 699 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) ATTGAGAAGGACGCTCAGTTA 0.348 Ovarian(60;318 1180 1554 28110 31601) NA 13 33 0 0 0.016723 0 0 DCLK1 9201 broad.mit.edu 37 13 36379850 36379850 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:36379850G>A uc001uvf.2 - 15 2163 c.1930C>T c.(1930-1932)CAT>TAT p.H644Y DCLK1_uc001uve.3_Missense_Mutation_p.H337Y|DCLK1_uc010teh.1_Missense_Mutation_p.H337Y|DCLK1_uc010abk.2_Missense_Mutation_p.H164Y NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 644 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ACCCAGGGATGCTCAAGTACT 0.408 NA 53 119 0 0 0.01441 0 0 ENOX1 55068 broad.mit.edu 37 13 43788178 43788178 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:43788178G>A uc001uza.3 - 17 2180 c.1880C>T c.(1879-1881)ACG>ATG p.T627M ENOX1_uc001uzb.3_Missense_Mutation_p.T627M|ENOX1_uc001uzc.3_Missense_Mutation_p.T627M|ENOX1_uc001uyz.3_Missense_Mutation_p.T236M NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 627 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TTTTTCCAGCGTGGCTCCCAC 0.438 NA 33 79 0 0 0.012213 0 0 FNDC3A 22862 broad.mit.edu 37 13 49752734 49752734 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:49752734G>C uc001vcm.2 + 14 1866 c.1561G>C c.(1561-1563)GAA>CAA p.E521Q FNDC3A_uc001vcn.2_Missense_Mutation_p.E521Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E447Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.E465Q NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 521 Fibronectin type-III 3. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ATATGATGGAGAAGATCTTGC 0.323 NA 30 77 0 0 0.012213 0 0 NALCN 259232 broad.mit.edu 37 13 101910917 101910917 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:101910917C>A uc001vox.1 - 11 1332 c.1143G>T c.(1141-1143)ATG>ATT p.M381I NALCN_uc001voy.2_Missense_Mutation_p.M96I|NALCN_uc001voz.2_Missense_Mutation_p.M381I|NALCN_uc001vpa.2_Missense_Mutation_p.M381I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 381 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) CGGATGACCGCATCATTTTCT 0.463 NA 4 47 0.00909568 0.00964833 0.009096 1 0 GRK1 6011 broad.mit.edu 37 13 114322111 114322111 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr13:114322111G>A uc010tkf.1 + 1 518 c.410G>A c.(409-411)GGG>GAG p.G137E NM_002929 NP_002920 Q15835 RK_HUMAN rhodopsin kinase precursor 137 RGS.|N-terminal. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) TTTAAGGAGGGGCCTGTGGAG 0.637 NA 4 11 0 0 0.009096 0 0 RNASE10 338879 broad.mit.edu 37 14 20978765 20978765 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:20978765G>T uc010tlj.1 + 1 135 c.135G>T c.(133-135)TGG>TGT p.W45C RNASE10_uc001vxp.2_Missense_Mutation_p.W73C NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 45 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) ATGAATTTTGGTCCAGTGACT 0.398 NA 57 85 6.75472e-32 8.49919e-32 0.01441 1 0 DACT1 51339 broad.mit.edu 37 14 59105173 59105173 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:59105173C>T uc001xdw.2 + 1 417 c.253C>T c.(253-255)CGC>TGC p.R85C DACT1_uc010trv.1_Intron|DACT1_uc001xdx.2_Missense_Mutation_p.R85C|DACT1_uc010trw.1_5'Flank NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 85 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 cgctgcgccccgcgcTGGGGA 0.478 NA 6 6 0 0 0.001984 0 0 RGS6 9628 broad.mit.edu 37 14 72945014 72945014 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:72945014G>C uc001xna.3 + 12 1354 c.831G>C c.(829-831)TTG>TTC p.L277F RGS6_uc010ttn.1_Missense_Mutation_p.L277F|RGS6_uc001xmx.3_Missense_Mutation_p.L277F|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.L277F|RGS6_uc010ttp.1_Missense_Mutation_p.L208F|RGS6_uc001xmz.1_Missense_Mutation_p.L138F NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 277 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GACATTGTTTGAAAATGTCCA 0.338 Ovarian(143;1926 2468 21071 48641) NA 6 34 0 0 0.021553 0 0 DNAL1 83544 broad.mit.edu 37 14 74154042 74154042 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:74154042G>A uc001xoq.3 + 6 510 c.345G>A c.(343-345)AAG>AAA p.K115K DNAL1_uc010aru.2_Silent_p.K76K|DNAL1_uc010arv.2_RNA NM_031427 NP_113615 Q4LDG9 DNAL1_HUMAN axonemal dynein light chain 1 115 LRR 3. 0 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) ACATAATGAAGAAATTGAAGA 0.388 NA 17 35 0 0 0.028581 0 0 NRXN3 9369 broad.mit.edu 37 14 79175708 79175708 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:79175708A>C uc001xun.2 + 4 742 c.251A>C c.(250-252)TAC>TCC p.Y84S NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.Y218S NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 457 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCAGAGGCTTACATCAGCTTG 0.502 NA 3 71 0 0 0.004672 0 0 BAG5 9529 broad.mit.edu 37 14 104026973 104026973 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:104026973C>T uc001yni.1 - 2 763 c.529G>A c.(529-531)GAG>AAG p.E177K KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E218K|BAG5_uc001ynj.1_Missense_Mutation_p.E177K|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 177 apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) TGTGCATCCTCGGAAAGCGGC 0.493 NSCLC(171;1832 2055 18950 31566 41632) NA 22 84 0 0 0.014323 0 0 GJD2 57369 broad.mit.edu 37 15 35044898 35044898 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:35044898C>G uc001zis.1 - 2 747 c.747G>C c.(745-747)GAG>GAC p.E249D uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 249 Extracellular (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) AGACAGTCTTCTCAGTTGGCC 0.493 NA 21 51 0 0 0.008871 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42378515 42378515 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:42378515C>T uc001zox.2 - 4 378 c.283G>A c.(283-285)GAG>AAG p.E95K NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 95 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) ACTGAGTCCTCATCATAGATG 0.493 NA 8 114 0 0 0.004482 0 0 C15orf43 145645 broad.mit.edu 37 15 45270711 45270711 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:45270711A>G uc001zuk.2 + 7 565 c.548A>G c.(547-549)AAG>AGG p.K183R NM_152448 NP_689661 Q8NHR7 CO043_HUMAN hypothetical protein LOC145645 183 0 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) GATGCCATGAAGAAATTCCTT 0.294 NA 24 78 0 0 0.024334 0 0 MYEF2 50804 broad.mit.edu 37 15 48446077 48446078 + Missense_Mutation DNP GC GC AA TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:48446077_48446078GC>AA uc001zwi.3 - 10 1122_1123 c.998_999GC>TT c.(997-999)GGC>GTT p.G333V MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Missense_Mutation_p.G333V|MYEF2_uc001zwl.2_Missense_Mutation_p.G173V NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 333 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CCATCCCAATGCCTCCAAGACC 0.386 NA 4 23 0 0 0.004672 0 0 ACAN 176 broad.mit.edu 37 15 89399981 89399981 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:89399981G>C uc010upo.1 + 12 4539 c.4165G>C c.(4165-4167)GAG>CAG p.E1389Q ACAN_uc010upp.1_Missense_Mutation_p.E1389Q|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1389 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCCTGGAGTAGAGGACATCAG 0.542 NA 6 222 0 0 0.016723 0 0 POLG 5428 broad.mit.edu 37 15 89862318 89862318 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:89862318C>G uc002bns.3 - 20 3399 c.3117G>C c.(3115-3117)AAG>AAC p.K1039N POLG_uc002bnr.3_Missense_Mutation_p.K1039N NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 1039 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CCTCCCACTTCTTCCACTGTG 0.502 Colon(73;648 1203 11348 18386 27782) NA DNA_polymerases_(catalytic_subunits) 27 70 0 0 0.007291 0 0 MCTP2 55784 broad.mit.edu 37 15 94858848 94858848 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:94858848G>T uc002btj.2 + 3 684 c.619G>T c.(619-621)GTT>TTT p.V207F MCTP2_uc010urg.1_Missense_Mutation_p.V207F|MCTP2_uc002bti.2_Missense_Mutation_p.V207F|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.V207F|MCTP2_uc002btg.3_Missense_Mutation_p.V207F|MCTP2_uc002bth.3_Missense_Mutation_p.V207F NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 207 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CCGGAACCTGGTTGTCCGAGA 0.527 NA 14 32 6.31663e-08 6.98329e-08 0.024245 1 0 LRRK1 79705 broad.mit.edu 37 15 101593183 101593183 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr15:101593183G>A uc002bwr.2 + 25 4065 c.3746G>A c.(3745-3747)GGC>GAC p.G1249D LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_5'Flank NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1249 ATP (By similarity).|Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCGTCCTGGGCCAGGGCGGC 0.632 NA 25 44 0 0 0.00632 0 0 TELO2 9894 broad.mit.edu 37 16 1555456 1555456 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:1555456G>T uc002cly.2 + 16 2179 c.1888G>T c.(1888-1890)GGG>TGG p.G630W NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 630 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) TGGGTGCCTCGGGAGGACTCC 0.677 NA 23 19 7.41877e-09 8.31141e-09 0.012319 1 0 CIITA 4261 broad.mit.edu 37 16 10996625 10996625 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:10996625G>T uc002dai.3 + 8 872 c.739G>T c.(739-741)GGA>TGA p.G247* CIITA_uc002daj.3_Nonsense_Mutation_p.G248*|CIITA_uc002dak.3_Nonsense_Mutation_p.G198*|CIITA_uc002dag.2_Nonsense_Mutation_p.G247*|CIITA_uc002dah.2_Nonsense_Mutation_p.G199*|CIITA_uc010bup.1_Nonsense_Mutation_p.G247* NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 247 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CTCTGAGGCTGGAACAGGGGT 0.592 NA T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 26 45 1.85244e-09 2.08089e-09 0.01892 1 0 PRKCB 5579 broad.mit.edu 37 16 23847514 23847514 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:23847514G>T uc002dmd.2 + 1 215 c.18G>T c.(16-18)GCG>GCT p.A6A PRKCB_uc002dme.2_Silent_p.A6A NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 6 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) ACCCGGCTGCGGGGCCGCCGC 0.512 NA 5 15 5.9392e-07 6.51446e-07 0.021553 1 0 RBBP6 5930 broad.mit.edu 37 16 24582309 24582309 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:24582309G>T uc002dmh.2 + 18 4962 c.3922G>T c.(3922-3924)GAA>TAA p.E1308* RBBP6_uc002dmi.2_Nonsense_Mutation_p.E1274*|RBBP6_uc010bxr.2_Nonsense_Mutation_p.E468*|RBBP6_uc002dmk.2_Nonsense_Mutation_p.E1141* NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1308 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) CGCGCCAGCTGAAGATGTTAT 0.378 NA 7 47 0.00198382 0.00211506 0.001984 1 0 ABCC11 85320 broad.mit.edu 37 16 48201504 48201504 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:48201504A>T uc002eff.1 - 28 4309 c.3959T>A c.(3958-3960)ATC>AAC p.I1320N ABCC11_uc002efg.1_Missense_Mutation_p.I1320N|ABCC11_uc002efh.1_Missense_Mutation_p.I1282N|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1320 ABC transporter 2.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGCTTCACGGATTGTGCGCTG 0.532 NA Cerumen_Type 46 98 0 0 0.01441 0 0 SALL1 6299 broad.mit.edu 37 16 51174300 51174300 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:51174300T>G uc010vgs.1 - 2 1864 c.1833A>C c.(1831-1833)GAA>GAC p.E611D SALL1_uc010vgr.1_Missense_Mutation_p.E514D|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 611 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACCCTTCGGCTTCCTCTGGGA 0.622 GBM(103;1352 1446 1855 4775 8890) NA 4 41 0 0 0.014758 0 0 CCDC135 84229 broad.mit.edu 37 16 57765098 57765098 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:57765098G>T uc002emi.2 + 18 2642 c.2553G>T c.(2551-2553)CTG>CTT p.L851L CCDC135_uc002emj.2_Silent_p.L851L|CCDC135_uc002emk.2_Silent_p.L786L NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 851 cytoplasm central_nervous_system(1) 1 TGGCCCCACTGAAGTACCTGG 0.572 NA 24 46 1.38267e-23 1.69894e-23 0.027356 1 0 CDH8 1006 broad.mit.edu 37 16 61859003 61859003 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:61859003C>A uc002eog.1 - 5 1000 c.748G>T c.(748-750)GGT>TGT p.G250C CDH8_uc002eoh.2_Missense_Mutation_p.G19C NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 250 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAGTGTCCACCCATATCTTTG 0.448 NA 43 60 3.05275e-18 3.67558e-18 0.013114 1 0 SMPD3 55512 broad.mit.edu 37 16 68405584 68405584 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:68405584G>T uc002ewa.2 - 3 923 c.501C>A c.(499-501)ATC>ATA p.I167I SMPD3_uc010cfe.2_Silent_p.I167I|SMPD3_uc010vlh.1_Silent_p.I167I NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 167 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) TGTAAATTTTGATCTGGGGCC 0.632 NA 4 51 0.00024832 0.000266785 0.009096 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77465343 77465343 + Missense_Mutation SNP G G A rs145596475 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:77465343G>A uc002ffc.3 - 3 763 c.344C>T c.(343-345)TCG>TTG p.S115L ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 115 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CAAAATCGCCGAGGGCTTAAG 0.488 NA 42 136 0 0 0.025465 0 0 BCMO1 53630 broad.mit.edu 37 16 81324006 81324006 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:81324006C>T uc002fgn.1 + 11 1686 c.1468C>T c.(1468-1470)CTC>TTC p.L490F BCMO1_uc010vnp.1_Missense_Mutation_p.L421F NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 490 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 GCCTTTTCTGCTCATTCTGGA 0.433 NA 37 73 0 0 0.007835 0 0 SLC7A5 8140 broad.mit.edu 37 16 87866630 87866630 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:87866630G>C uc002fkm.2 - 10 1542 c.1470C>G c.(1468-1470)TTC>TTG p.F490L NM_003486 NP_003477 Q01650 LAT1_HUMAN solute carrier family 7 (cationic amino acid 490 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding 0 BRCA - Breast invasive adenocarcinoma(80;0.049) CGGTCGTGGAGACTGTCAGGA 0.657 NA 30 125 0 0 0.007291 0 0 DPEP1 1800 broad.mit.edu 37 16 89703660 89703660 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr16:89703660C>T uc010cin.2 + 7 843 c.640C>T c.(640-642)CAC>TAC p.H214Y DPEP1_uc002fnr.3_Missense_Mutation_p.H214Y|DPEP1_uc002fns.3_Missense_Mutation_p.H214Y NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 214 Zinc 2; catalytic. proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CGACTTGGCTCACGTGTCTGT 0.662 NA 8 41 0 0 0.00308 0 0 RILP 83547 broad.mit.edu 37 17 1552103 1552103 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:1552103G>C uc002ftd.2 - 4 959 c.665C>G c.(664-666)CCT>CGT p.P222R NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 222 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGGGTCCTCAGGGTTCCCTGG 0.577 NA 3 9 0 0 0.004672 0 0 DPH1 1801 broad.mit.edu 37 17 1936833 1936833 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:1936833C>T uc002fts.2 + 2 129 c.111C>T c.(109-111)ATC>ATT p.I37I DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.I32I|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Silent_p.I47I NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN diptheria toxin resistance protein required for 37 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus pancreas(1) 1 CCAATCAGATCCCCCCTGAGA 0.527 NA 24 68 0 0 0.024334 0 0 GLP2R 9340 broad.mit.edu 37 17 9792772 9792772 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:9792772T>G uc002gmd.1 + 13 1412 c.1412T>G c.(1411-1413)TTC>TGC p.F471C NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 471 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GGGAAGGACTTCCGGTTCCTA 0.587 NA 24 43 0 0 0.024334 0 0 SUPT6H 6830 broad.mit.edu 37 17 27008931 27008931 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:27008931G>A uc002hby.2 + 13 1620 c.1530G>A c.(1528-1530)CAG>CAA p.Q510Q SUPT6H_uc010crt.2_Silent_p.Q510Q NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 510 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) ATGAGGAGCAGAGGGGGCCTG 0.517 NA 5 32 0 0 0.014758 0 0 STAT3 6774 broad.mit.edu 37 17 40498730 40498730 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:40498730C>T uc002hzl.1 - 3 370 c.130G>A c.(130-132)GCA>ACA p.A44T STAT3_uc002hzk.1_Missense_Mutation_p.A44T|STAT3_uc002hzm.1_Missense_Mutation_p.A44T|STAT3_uc010wgh.1_5'UTR|STAT3_uc002hzn.1_Missense_Mutation_p.A44T NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 44 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GCCGCATATGCCCTAGGAAAA 0.428 NA Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 4 267 0 0 0.009096 0 0 SLC25A39 51629 broad.mit.edu 37 17 42398804 42398804 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:42398804C>A uc002ign.2 - 7 669 c.515G>T c.(514-516)CGC>CTC p.R172L SLC25A39_uc002igm.2_Missense_Mutation_p.R164L|SLC25A39_uc002igo.2_Missense_Mutation_p.R164L|SLC25A39_uc010wiw.1_Missense_Mutation_p.R149L|SLC25A39_uc010czu.2_Missense_Mutation_p.R40L|SLC25A39_uc010wix.1_Missense_Mutation_p.R164L|SLC25A39_uc010wiy.1_Missense_Mutation_p.R157L NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 172 Solcar 2.|Helical; Name=3; (Potential). heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) ATGCTCACGGCGGGCCAGCGC 0.632 NA 21 48 1.28384e-07 1.4156e-07 0.012319 1 0 KIAA1267 284058 broad.mit.edu 37 17 44117133 44117133 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:44117133C>T uc002ikb.2 - 7 2223 c.2138G>A c.(2137-2139)GGC>GAC p.G713D KIAA1267_uc002ikc.2_Missense_Mutation_p.G713D|KIAA1267_uc002ikd.2_Missense_Mutation_p.G713D|KIAA1267_uc010dav.2_Missense_Mutation_p.G713D|KIAA1267_uc010wkb.1_Missense_Mutation_p.G44D|KIAA1267_uc010wkc.1_Missense_Mutation_p.G44D NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 713 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TGGCAGACTGCCCGGCATGGG 0.502 NA 5 124 0 0 0.014758 0 0 HOXB3 3213 broad.mit.edu 37 17 46629586 46629586 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:46629586G>A uc002inn.2 - 1 651 c.251C>T c.(250-252)TCG>TTG p.S84L HOXB3_uc010wlm.1_Missense_Mutation_p.S11L|HOXB3_uc010dbf.2_Missense_Mutation_p.S84L|HOXB3_uc010dbg.2_Missense_Mutation_p.S84L|HOXB3_uc002ino.2_Missense_Mutation_p.S84L|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Missense_Mutation_p.S11L NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 84 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGGCGGGGCCGACAGGGGCTC 0.682 NA 36 70 0 0 0.015359 0 0 NME1-NME2 654364 broad.mit.edu 37 17 49245626 49245626 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:49245626G>A uc002itk.2 + 7 823 c.570G>A c.(568-570)CAG>CAA p.Q190Q NME1-NME2_uc002itj.2_Silent_p.Q165Q|NME2_uc002itl.2_Silent_p.Q50Q|NME2_uc002itm.2_Silent_p.Q50Q|NME2_uc002itn.2_Silent_p.Q50Q|NME2_uc002ito.2_Silent_p.Q50Q NM_002512 NP_002503 P22392 NDKB_HUMAN nucleoside diphosphate kinase B 50 Interaction with AKAP13. cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process cytosol|lamellipodium|nucleus|ruffle ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) ACCTGAAGCAGCACTACATTG 0.542 NA 6 110 0 0 0.001984 0 0 KIF2B 84643 broad.mit.edu 37 17 51901606 51901606 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:51901606G>T uc002iua.2 + 1 1368 c.1212G>T c.(1210-1212)GTG>GTT p.V404V uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 404 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TGAACCTGGTGGAAATAGGGA 0.522 NA 26 60 4.59853e-10 5.17953e-10 0.027356 1 0 ARMC7 79637 broad.mit.edu 37 17 73125037 73125037 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:73125037C>T uc002jmw.1 + 3 803 c.501C>T c.(499-501)TTC>TTT p.F167F ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA NM_024585 NP_078861 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 167 binding pancreas(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) TGGAGGACTTCTGCTCCCCCC 0.701 NA 5 14 0 0 0.014758 0 0 RNF213 57674 broad.mit.edu 37 17 78321478 78321478 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:78321478G>A uc002jyh.1 + 4 3785 c.3562G>A c.(3562-3564)GCA>ACA p.A1188T NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTCTACGACGCACTCAACCA 0.562 NA 22 65 0 0 0.012319 0 0 FAM38B 63895 broad.mit.edu 37 18 10691237 10691237 + Silent SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:10691237G>C uc002kor.3 - 6 1007 c.867C>G c.(865-867)CTC>CTG p.L289L FAM38B_uc002koq.2_Silent_p.L187L NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2332 Helical; (Potential). integral to membrane ion channel activity ovary(1) 1 GGAATAAGAAGAGGTTGACGT 0.498 NA 43 75 0 0 0.01441 0 0 CEP76 79959 broad.mit.edu 37 18 12695285 12695285 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:12695285G>C uc002kri.2 - 6 928 c.772C>G c.(772-774)CAA>GAA p.Q258E PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.Q80E|CEP76_uc010wzz.1_Missense_Mutation_p.Q183E|CEP76_uc010xaa.1_Missense_Mutation_p.Q80E NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 258 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 GATAACGTTTGATTGAGTGGT 0.299 NA 4 18 0 0 0.009096 0 0 LAMA3 3909 broad.mit.edu 37 18 21526203 21526203 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:21526203C>T uc002kuq.2 + 70 9392 c.9306C>T c.(9304-9306)ATC>ATT p.I3102I LAMA3_uc002kur.2_Silent_p.I3046I|LAMA3_uc002kus.3_Silent_p.I1493I|LAMA3_uc002kut.3_Silent_p.I1437I NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 3102 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATCAGCATCAGAGCGCCAG 0.502 NA 11 73 0 0 0.010729 0 0 ZNF521 25925 broad.mit.edu 37 18 22806029 22806029 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:22806029T>G uc002kvk.2 - 4 2100 c.1853A>C c.(1852-1854)AAG>ACG p.K618T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K618T|ZNF521_uc002kvl.2_Missense_Mutation_p.K398T NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 618 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTGCATCATCTTAAGAGATGT 0.468 NA T PAX5 ALL 12 55 0 0 0.013537 0 0 DSC2 1824 broad.mit.edu 37 18 28660165 28660165 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:28660165G>T uc002kwl.3 - 10 1871 c.1417C>A c.(1417-1419)CCT>ACT p.P473T DSC2_uc002kwk.3_Missense_Mutation_p.P473T NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 473 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGTATTGGAGGGTTACACTCA 0.443 NA 24 126 7.76418e-22 9.48453e-22 0.027356 1 0 ASXL3 80816 broad.mit.edu 37 18 31323324 31323324 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:31323324A>T uc010dmg.1 + 12 3567 c.3512A>T c.(3511-3513)AAG>ATG p.K1171M ASXL3_uc002kxq.2_Missense_Mutation_p.K878M NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CCTAGCAACAAGTCTGCCCAC 0.458 NA 5 36 0 0 0.014758 0 0 RIT2 6014 broad.mit.edu 37 18 40323480 40323480 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:40323480T>G uc002lav.2 - 5 805 c.632A>C c.(631-633)AAG>ACG p.K211T RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 211 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TTCTCTCTTCTTCTTCAAAGA 0.388 NA 15 108 0 0 0.024245 0 0 ZNF532 55205 broad.mit.edu 37 18 56648817 56648817 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:56648817G>T uc002lho.2 + 10 3926 c.3379G>T c.(3379-3381)GAG>TAG p.E1127* ZNF532_uc002lhp.2_Nonsense_Mutation_p.E1125*|ZNF532_uc010xeg.1_Nonsense_Mutation_p.E1125*|ZNF532_uc002lhr.2_Nonsense_Mutation_p.E1125*|ZNF532_uc002lhs.2_Nonsense_Mutation_p.E1125*|ZNF532_uc010xeh.1_Nonsense_Mutation_p.E215* NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TGCCACCAATGAGGAGGAAAC 0.418 NA 32 45 8.16721e-17 9.66684e-17 0.010818 1 0 CDH19 28513 broad.mit.edu 37 18 64218487 64218487 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr18:64218487T>C uc002lkc.1 - 5 757 c.619A>G c.(619-621)AGA>GGA p.R207G CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.R207G|CDH19_uc002lkd.2_Missense_Mutation_p.R207G NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 207 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) GAAGATATTCTTATGACTCCT 0.313 NA 22 77 0 0 0.010504 0 0 SAFB 6294 broad.mit.edu 37 19 5651059 5651059 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:5651059G>C uc002mcf.2 + 9 1322 c.1269G>C c.(1267-1269)AAG>AAC p.K423N SAFB_uc002mcg.2_Missense_Mutation_p.K423N|SAFB_uc002mce.3_Missense_Mutation_p.K423N|SAFB_uc010xir.1_Missense_Mutation_p.K423N|SAFB_uc010xis.1_Missense_Mutation_p.K354N|SAFB_uc010xit.1_Missense_Mutation_p.K266N|SAFB_uc010xiu.1_Missense_Mutation_p.K222N NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 423 RRM. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CAGATTTGAAGAATCTTTTCA 0.423 Colon(88;338 1345 6184 8214 20897) NA 14 40 0 0 0.016723 0 0 DNMT1 1786 broad.mit.edu 37 19 10287991 10287991 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:10287991G>A uc002mng.2 - 5 678 c.498C>T c.(496-498)ACC>ACT p.T166T DNMT1_uc010xlc.1_Silent_p.T182T|DNMT1_uc002mnh.2_Silent_p.T61T|DNMT1_uc010xld.1_Silent_p.T166T|DNMT1_uc010dxb.1_RNA NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 166 Interaction with PCNA.|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity). T->A: Abolishes interaction with PCNA. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAGATGTGATGGTGGTTTGCC 0.443 NA 5 30 0 0 0.014758 0 0 KEAP1 9817 broad.mit.edu 37 19 10602775 10602775 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:10602775A>G uc002moq.1 - 3 959 c.803T>C c.(802-804)CTG>CCG p.L268P KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.L268P NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 268 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CACGGCCCGCAGCAGCGCCTG 0.627 NA 9 33 0 0 0.008291 0 0 SMARCA4 6597 broad.mit.edu 37 19 11168983 11168983 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:11168983G>T uc002mqf.3 + 31 4761 c.4477G>T c.(4477-4479)GAG>TAG p.E1493* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1493*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E1525*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1460*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1459*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1463*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1462*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E583* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1493 Bromo. 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 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) CTCGCGAAAGGAGCTGCCCGA 0.637 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 13 15 0.000219431 0.000236963 0.020292 1 0 ZNF98 148198 broad.mit.edu 37 19 22574557 22574557 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:22574557C>G uc002nqt.2 - 4 1602 c.1480G>C c.(1480-1482)GAA>CAA p.E494Q NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 494 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TTGCCACATTCTTCACATTTG 0.403 NA 4 74 0 0 0.009096 0 0 PSG7 5676 broad.mit.edu 37 19 43430044 43430044 + Nonsense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:43430044G>C uc002ovl.3 - 6 1226 c.1124C>G c.(1123-1125)TCA>TGA p.S375* PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Nonsense_Mutation_p.S288*|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Nonsense_Mutation_p.S101*|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Nonsense_Mutation_p.S288*|PSG7_uc010xwl.1_Nonsense_Mutation_p.S253* NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 375 Ig-like C2-type 3. female pregnancy extracellular region 0 Prostate(69;0.00682) CTTTTGTCCTGATAGCTGAAA 0.463 NA 102 252 0 0 0.01441 0 0 IRGC 56269 broad.mit.edu 37 19 44223520 44223520 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:44223520C>T uc002oxh.2 + 2 957 c.810C>T c.(808-810)ACC>ACT p.T270T NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 270 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) TCCTCAAGACCGCCCTGGTGT 0.657 Colon(189;350 2037 11447 13433 38914) NA 6 49 0 0 0.00308 0 0 ZNF283 284349 broad.mit.edu 37 19 44351997 44351997 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:44351997G>T uc002oxr.3 + 7 1512 c.1244G>T c.(1243-1245)GGA>GTA p.G415V ZNF283_uc002oxp.3_Missense_Mutation_p.G276V NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 415 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TTTAATTGCGGATCAAGTCTT 0.388 NA 45 104 1.7489e-18 2.11179e-18 0.011902 1 0 SFRS16 11129 broad.mit.edu 37 19 45567459 45567459 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:45567459C>T uc002pak.2 + 12 1193 c.1095C>T c.(1093-1095)CCC>CCT p.P365P SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.P303P|SFRS16_uc002pam.2_Silent_p.P365P|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 365 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CTGGCGGCCCCGCCCCGGGAC 0.756 NA 7 7 0 0 0.001984 0 0 SYMPK 8189 broad.mit.edu 37 19 46319126 46319126 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:46319126C>G uc002pdn.2 - 26 3915 c.3670G>C c.(3670-3672)GAG>CAG p.E1224Q RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1224 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGGGGGCCCTCGAGACTAGAG 0.672 NA 4 16 0 0 0.009096 0 0 IGFL2 147920 broad.mit.edu 37 19 46663876 46663876 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:46663876G>T uc010xxv.1 + 3 115 c.79G>T c.(79-81)GCT>TCT p.A27S IGFL2_uc002peb.2_Missense_Mutation_p.A38S NM_001135113 NP_001128585 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 isoform b 27 extracellular region protein binding 0 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) TCCAGCTCCCGCTGGCTCAGA 0.572 NA 74 85 1.62783e-20 1.98273e-20 0.01441 1 0 PNMAL1 55228 broad.mit.edu 37 19 46973432 46973432 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:46973432C>T uc002peq.3 - 2 1167 c.861G>A c.(859-861)CCG>CCA p.P287P PNMAL1_uc002per.3_Silent_p.P287P NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 287 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TGCCCTTGATCGGCTCTGAGA 0.537 NA 76 68 0 0 0.01441 0 0 PNMAL1 55228 broad.mit.edu 37 19 46974056 46974056 + Silent SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:46974056C>G uc002peq.3 - 2 543 c.237G>C c.(235-237)CTG>CTC p.L79L PNMAL1_uc002per.3_Silent_p.L79L NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 79 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ggatggtgctcagattcacac 0 NA 8 20 0 0 0.00308 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48255844 48255844 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:48255844C>G uc002phm.2 + 6 769 c.745C>G c.(745-747)CCA>GCA p.P249A GLTSCR2_uc002phk.2_Missense_Mutation_p.P249A|GLTSCR2_uc002phl.2_Missense_Mutation_p.P249A|GLTSCR2_uc010elj.2_Missense_Mutation_p.P249A|GLTSCR2_uc010elk.1_RNA NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 249 nucleolus central_nervous_system(1) 1 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) TTCCTACAATCCATCCTTTGA 0.632 Colon(58;613 1041 9473 10089 15241) NA 6 22 0 0 0.001984 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655729 40655729 + Silent SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:40655729A>G uc002rrx.2 - 1 1716 c.1692T>C c.(1690-1692)TCT>TCC p.S564S SLC8A1_uc002rry.2_Silent_p.S564S|SLC8A1_uc002rrz.2_Silent_p.S564S|SLC8A1_uc002rsa.2_Silent_p.S564S|SLC8A1_uc002rsd.3_Silent_p.S564S|SLC8A1_uc002rsb.1_Silent_p.S564S|SLC8A1_uc010fan.1_Silent_p.S564S|SLC8A1_uc002rsc.1_Silent_p.S564S NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 564 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTCGAGCTCCAGATGTTCTCA 0.458 NA 11 201 0 0 0.010729 0 0 THADA 63892 broad.mit.edu 37 2 43519314 43519314 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:43519314C>G uc002rsw.3 - 33 5218 c.4866G>C c.(4864-4866)CAG>CAC p.Q1622H THADA_uc010far.2_Missense_Mutation_p.Q817H|THADA_uc002rsx.3_Missense_Mutation_p.Q1622H|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1622 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGTGCTCCGTCTGGGGAAGCC 0.478 NA 7 23 0 0 0.004482 0 0 ADD2 119 broad.mit.edu 37 2 70933523 70933523 + Silent SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:70933523G>T uc002sgz.2 - 3 483 c.18C>A c.(16-18)GTC>GTA p.V6V ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.V6V|ADD2_uc002sha.2_Silent_p.V6V|ADD2_uc002sgx.2_Silent_p.V6V|ADD2_uc010fdt.1_Silent_p.V6V|ADD2_uc002shc.1_Silent_p.V6V|ADD2_uc002shd.1_Silent_p.V6V|ADD2_uc010fdu.1_Silent_p.V22V NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 6 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 CAGCCTCGGGGACCGTCTCTT 0.647 NA 27 70 9.39395e-14 1.0964e-13 0.00632 1 0 SNRNP200 23020 broad.mit.edu 37 2 96944390 96944390 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:96944390C>A uc002svu.2 - 38 5469 c.5383G>T c.(5383-5385)GAC>TAC p.D1795Y SNRNP200_uc002svt.2_Missense_Mutation_p.D405Y|SNRNP200_uc010yuj.1_RNA NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1795 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TGCTCCAGGTCACTCAGGGTC 0.567 NA 25 55 1.64293e-13 1.9069e-13 0.01892 1 0 POTEF 728378 broad.mit.edu 37 2 130877669 130877669 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:130877669C>T uc010fmh.2 - 3 820 c.420G>A c.(418-420)CTG>CTA p.L140L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 140 cell cortex ATP binding skin(3)|ovary(2) 5 GGAGCTTGTCCAGATCTTCTC 0.572 NA 31 101 0 0 0.027894 0 0 POTEE 445582 broad.mit.edu 37 2 131976395 131976395 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:131976395G>A uc002tsn.2 + 1 472 c.420G>A c.(418-420)CTG>CTA p.L140L PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 140 ATP binding 0 GAGAAGATCTGGACAAGCTCC 0.577 NA 6 139 0 0 0.016723 0 0 LRP1B 53353 broad.mit.edu 37 2 141081555 141081555 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:141081555G>C uc002tvj.1 - 81 13393 c.12421C>G c.(12421-12423)CAA>GAA p.Q4141E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4141 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAAATTTTTGAACTCGAAAT 0.308 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 31 137 0 0 0.009535 0 0 LY75 4065 broad.mit.edu 37 2 160661621 160661621 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:160661621G>A uc002ubc.3 - 35 5172 c.5103C>T c.(5101-5103)TTC>TTT p.F1701F LY75_uc002ubb.3_Intron|LY75_uc010fos.2_Intron NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1701 Cytoplasmic (Potential). endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) GAACTGATGAGAAACCCGCCA 0.408 NA 19 50 0 0 0.008871 0 0 PLA2R1 22925 broad.mit.edu 37 2 160884750 160884750 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:160884750G>A uc002ube.1 - 6 1285 c.1078C>T c.(1078-1080)CAC>TAC p.H360Y PLA2R1_uc010zcp.1_Missense_Mutation_p.H360Y|PLA2R1_uc002ubf.2_Missense_Mutation_p.H360Y NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 360 Extracellular (Potential). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TGATCAATGTGGTTTAGATAT 0.343 NA 8 105 0 0 0.004482 0 0 SCN3A 6328 broad.mit.edu 37 2 165947525 165947525 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:165947525C>A uc002ucx.2 - 28 5630 c.5138G>T c.(5137-5139)GGA>GTA p.G1713V SCN3A_uc010zcy.1_Missense_Mutation_p.G196V|SCN3A_uc002ucy.2_Missense_Mutation_p.G1664V|SCN3A_uc002ucz.2_Missense_Mutation_p.G1664V NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1713 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TGCTAGCAATCCATCCCAGCC 0.468 NA 75 169 1.51875e-23 1.8607e-23 0.01441 1 0 XIRP2 129446 broad.mit.edu 37 2 168096470 168096470 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:168096470G>A uc002udx.2 + 5 982 c.964G>A c.(964-966)GAA>AAA p.E322K XIRP2_uc010fpn.2_Missense_Mutation_p.E355K|XIRP2_uc010fpo.2_Missense_Mutation_p.E322K|XIRP2_uc010fpp.2_Missense_Mutation_p.E322K|XIRP2_uc002udy.2_Missense_Mutation_p.E147K|XIRP2_uc010fpq.2_Missense_Mutation_p.E100K|XIRP2_uc010fpr.2_Missense_Mutation_p.E100K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 147 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCATGGAACAGAAATGGTAAC 0.378 NA 7 62 0 0 0.001984 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794750 176794750 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:176794750C>A uc002ukc.1 - 13 1425 c.1232G>T c.(1231-1233)GGA>GTA p.G411V KIAA1715_uc010zer.1_Missense_Mutation_p.G442V|KIAA1715_uc010fqw.1_Missense_Mutation_p.G477V|KIAA1715_uc010zes.1_Missense_Mutation_p.G413V|KIAA1715_uc002ukd.1_Missense_Mutation_p.G288V|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 411 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AGAATCAGCTCCAGGAACTGT 0.433 NA 43 76 1.76056e-25 2.17603e-25 0.011902 1 0 HOXD3 3232 broad.mit.edu 37 2 177034065 177034065 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:177034065C>A uc002ukt.1 + 2 399 c.223C>A c.(223-225)CCT>ACT p.P75T NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 75 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GAGCTCTGCCCCTCTGAGAGC 0.667 NA 25 58 5.35356e-11 6.14559e-11 0.016522 1 0 RBM45 129831 broad.mit.edu 37 2 178981066 178981066 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:178981066G>A uc002ulv.2 + 2 470 c.378G>A c.(376-378)ATG>ATA p.M126I NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 126 RRM 2. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCTTTGTTATGATACCAAAGT 0.373 NA 29 159 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179438325 179438325 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:179438325T>G uc010zfg.1 - 275 65054 c.64830A>C c.(64828-64830)CAA>CAC p.Q21610H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q15305H|TTN_uc010zfi.1_Missense_Mutation_p.Q15238H|TTN_uc010zfj.1_Missense_Mutation_p.Q15113H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22537 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Q15113H(1) 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) GCTTTGTTACTTGGACTTCTG 0.423 NA 9 515 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179579143 179579143 + Silent SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:179579143A>C uc010zfg.1 - 88 22850 c.22626T>G c.(22624-22626)TCT>TCG p.S7542S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4203S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8469 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) TTTCTGAATAAGAAATCCATA 0.413 NA 9 83 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179579856 179579856 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:179579856C>T uc010zfg.1 - 87 22549 c.22325G>A c.(22324-22326)GGC>GAC p.G7442D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8369 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) GTACTTCTTGCCGCTCCTAAG 0.443 NA 5 362 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179604934 179604934 + Silent SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:179604934T>C uc010zfh.1 - 46 12737 c.12513A>G c.(12511-12513)AAA>AAG p.K4171K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.K4104K|TTN_uc010zfj.1_Silent_p.K3979K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGCTCTTCTTTGAGCAGTA 0.473 NA 4 156 0 0 0.009096 0 0 DUSP19 142679 broad.mit.edu 37 2 183943759 183943759 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:183943759A>G uc002upd.2 + 1 473 c.98A>G c.(97-99)GAA>GGA p.E33G DUSP19_uc010frp.2_Missense_Mutation_p.E33G|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Missense_Mutation_p.E33G NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 33 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 AAAATTATAGAAACATGGAAA 0.453 NA 18 35 0 0 0.010504 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802437 185802437 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:185802437C>T uc002uph.2 + 4 2908 c.2314C>T c.(2314-2316)CGT>TGT p.R772C NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 772 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTATCGAAAACGTAGACAACA 0.343 NA 29 75 0 0 0.009535 0 0 FZD7 8324 broad.mit.edu 37 2 202899457 202899457 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:202899457C>T uc002uyw.1 + 1 148 c.87C>T c.(85-87)GGC>GGT p.G29G NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 29 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 TGTCCGCGGGCGCCGGGGCGC 0.731 NA 28 36 0 0 0.024334 0 0 PARD3B 117583 broad.mit.edu 37 2 205969185 205969185 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:205969185G>C uc002var.1 + 5 747 c.540G>C c.(538-540)TTG>TTC p.L180F PARD3B_uc010fub.1_Missense_Mutation_p.L180F|PARD3B_uc002vao.1_Missense_Mutation_p.L180F|PARD3B_uc002vap.1_Missense_Mutation_p.L180F|PARD3B_uc002vaq.1_Missense_Mutation_p.L180F NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 180 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GAGAAGTTTTGAATGGTGTAC 0.333 NA 33 113 0 0 0.023175 0 0 PARD3B 117583 broad.mit.edu 37 2 206036935 206036935 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:206036935G>A uc002var.1 + 12 1828 c.1621G>A c.(1621-1623)GAT>AAT p.D541N PARD3B_uc010fub.1_Missense_Mutation_p.D541N|PARD3B_uc002vao.1_Missense_Mutation_p.D541N|PARD3B_uc002vap.1_Missense_Mutation_p.D479N|PARD3B_uc002vaq.1_Missense_Mutation_p.D541N NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 541 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TCTGCCTTAGGATGGTCGTCT 0.398 NA 13 75 0 0 0.020292 0 0 PTH2R 5746 broad.mit.edu 37 2 209355384 209355384 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:209355384C>T uc002vdb.2 + 12 1449 c.1236C>T c.(1234-1236)ATC>ATT p.I412I PTH2R_uc010zjb.1_Silent_p.I423I|PTH2R_uc010fuo.1_RNA NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 412 Helical; Name=7; (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGTCTATCATCTACTGCTACT 0.443 NA 66 111 0 0 0.01441 0 0 BARD1 580 broad.mit.edu 37 2 215646023 215646023 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:215646023G>A uc002veu.2 - 4 710 c.575C>T c.(574-576)TCT>TTT p.S192F BARD1_uc010zjm.1_Missense_Mutation_p.S48F NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 192 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGCCCTCTCAGAAACATCTGC 0.383 NA Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 42 112 0 0 0.011902 0 0 MARCH4 57574 broad.mit.edu 37 2 217234653 217234653 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:217234653G>A uc002vgb.2 - 1 2098 c.331C>T c.(331-333)CCA>TCA p.P111S NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 111 Pro-rich. Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GAAGAAGGTGGCAAGGGGGGT 0.672 NA 7 15 0 0 0.00308 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115640 220115640 + Missense_Mutation SNP G G A rs147946711 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr2:220115640G>A uc002vkt.1 - 4 839 c.781C>T c.(781-783)CCC>TCC p.P261S TUBA4A_uc010zkz.1_Missense_Mutation_p.P246S|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN tubulin, alpha 4a 261 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3) 3 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGAGGGTAGGGCACCAGGTTG 0.562 NA 42 64 0 0 0.011902 0 0 MAVS 57506 broad.mit.edu 37 20 3838387 3838387 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr20:3838387G>A uc002wjw.3 + 3 392 c.223G>A c.(223-225)GCA>ACA p.A75T MAVS_uc002wjv.2_Missense_Mutation_p.A75T|MAVS_uc010zqn.1_Missense_Mutation_p.A75T|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 75 Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD. activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 CTTCATTGCGGCACTGAGGGG 0.632 NA 4 145 0 0 0.009096 0 0 CHD6 84181 broad.mit.edu 37 20 40040832 40040832 + Silent SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr20:40040832C>G uc002xka.1 - 36 7381 c.7203G>C c.(7201-7203)CTG>CTC p.L2401L CHD6_uc002xjz.1_5'UTR NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2401 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CTTCCCCGCTCAGGGAGCTGA 0.517 NA 21 78 0 0 0.012319 0 0 STX16 8675 broad.mit.edu 37 20 57243142 57243142 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr20:57243142G>A uc002xzi.2 + 4 1087 c.352G>A c.(352-354)GAG>AAG p.E118K STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Missense_Mutation_p.E101K|STX16_uc002xzm.2_Missense_Mutation_p.E114K|STX16_uc002xzj.2_Missense_Mutation_p.E97K|STX16_uc002xzl.2_5'UTR NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 118 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) CAGCAGCGAAGAGGAACATGC 0.483 NA 4 63 0 0 0.021553 0 0 SYNJ1 8867 broad.mit.edu 37 21 34030051 34030051 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr21:34030051C>A uc002yqh.2 - 19 2553 c.2553G>T c.(2551-2553)AGG>AGT p.R851S SYNJ1_uc011ads.1_Missense_Mutation_p.R807S|SYNJ1_uc002yqf.2_Missense_Mutation_p.R812S|SYNJ1_uc002yqg.2_Missense_Mutation_p.R807S|SYNJ1_uc002yqi.2_Missense_Mutation_p.R851S NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 812 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GCCATTTCCTCCTTCTCCAAA 0.423 NA 32 55 2.42023e-17 2.8809e-17 0.015359 1 0 MX2 4600 broad.mit.edu 37 21 42748999 42748999 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr21:42748999G>T uc002yzf.1 + 2 270 c.166G>T c.(166-168)GCT>TCT p.A56S MX2_uc011aer.1_RNA NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 56 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) AGAGAAGGACGCTGCTTTCCT 0.527 NA 43 96 3.61848e-18 4.34425e-18 0.007835 1 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011473 46011473 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr21:46011473C>A uc002zfm.2 - 1 914 c.893G>T c.(892-894)TGC>TTC p.C298F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 298 29 X 5 AA repeats of C-C-X(3).|27. keratin filament 0 GGAGGGTCTGCAGCAGGAGGC 0.677 NA 54 75 6.3237e-29 7.93302e-29 0.01441 1 0 MCM3AP 8888 broad.mit.edu 37 21 47663461 47663461 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr21:47663461C>T uc002zir.1 - 24 5250 c.5214G>A c.(5212-5214)GAG>GAA p.E1738E MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.E233E|MCM3AP_uc002zip.1_Silent_p.E479E|MCM3AP_uc002ziq.1_Silent_p.E665E|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1738 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CCCATGGGATCTCCATGACCG 0.562 NA 7 108 0 0 0.00308 0 0 THAP7 80764 broad.mit.edu 37 22 21354220 21354220 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr22:21354220C>T uc002ztr.1 - 5 909 c.879G>A c.(877-879)CTG>CTA p.L293L THAP7_uc002zts.1_Silent_p.L293L|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank NM_001008695 NP_001008695 Q9BT49 THAP7_HUMAN THAP domain containing 7 isoform 2 293 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding 0 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CATGCTCCTTCAGAGTCTGGC 0.657 NA 7 49 0 0 0.001984 0 0 HIC2 23119 broad.mit.edu 37 22 21800810 21800810 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr22:21800810C>T uc002zur.3 + 3 1856 c.1626C>T c.(1624-1626)TTC>TTT p.F542F HIC2_uc002zus.3_Silent_p.F542F NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 542 C2H2-type 3. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) GCAAAATGTTCACGCAGCGCG 0.632 NSCLC(23;437 858 2282 27947 40366) NA 16 35 0 0 0.028581 0 0 CACNA1I 8911 broad.mit.edu 37 22 39996548 39996548 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr22:39996548C>T uc003ayc.2 + 3 372 c.372C>T c.(370-372)ATC>ATT p.I124I CACNA1I_uc003ayd.2_Silent_p.I124I|CACNA1I_uc003aye.2_Silent_p.I39I|CACNA1I_uc003ayf.2_Silent_p.I39I NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 124 I.|Helical; Name=S2 of repeat I; (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCATCTTTATCTTCTTTGCCA 0.557 NA 7 51 0 0 0.004482 0 0 ZBED4 9889 broad.mit.edu 37 22 50277565 50277565 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr22:50277565G>A uc003bix.2 + 2 725 c.255G>A c.(253-255)GCG>GCA p.A85A NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 85 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACTATGGCGCGCTGTTCTCCC 0.627 NA 21 112 0 0 0.012319 0 0 LRRN1 57633 broad.mit.edu 37 3 3888070 3888070 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:3888070A>C uc003bpt.3 + 2 2506 c.1745A>C c.(1744-1746)AAC>ACC p.N582T SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 582 Fibronectin type-III.|Extracellular (Potential). 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) CATGAATACAACCTAACGCAT 0.433 NA 34 271 0 0 0.013726 0 0 PPARG 5468 broad.mit.edu 37 3 12393098 12393098 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:12393098G>A uc003bwx.2 + 1 98 c.7G>A c.(7-9)GAA>AAA p.E3K PPARG_uc003bwr.2_Intron|PPARG_uc003bws.2_Intron|PPARG_uc003bwu.2_Intron|PPARG_uc003bwv.2_Intron|PPARG_uc003bwq.1_Intron|PPARG_uc010hdz.1_Intron|PPARG_uc003bwt.1_Intron|PPARG_uc003bww.1_Missense_Mutation_p.E3K NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 3 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGTTATGGGTGAAACTCTGGG 0.393 NA T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 24 39 0 0 0.014323 0 0 NEK10 152110 broad.mit.edu 37 3 27152782 27152782 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:27152782T>C uc010hfk.2 - 17 1665 c.1436A>G c.(1435-1437)AAT>AGT p.N479S NEK10_uc010hfj.2_Missense_Mutation_p.N422S Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 1167 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GGTTGGGTGATTCTTGGTCCC 0.368 NA 5 54 0 0 0.014758 0 0 NEK10 152110 broad.mit.edu 37 3 27204078 27204078 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:27204078C>T uc010hfk.2 - 10 1049 c.820G>A c.(820-822)GAC>AAC p.D274N NEK10_uc003cds.1_Missense_Mutation_p.D359N|NEK10_uc010hfj.2_Intron Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 962 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 AGAAGCAGGTCAAGAGGCAGC 0.433 NA 6 56 0 0 0.021553 0 0 XYLB 9942 broad.mit.edu 37 3 38401862 38401862 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:38401862G>C uc003cic.2 + 3 282 c.173G>C c.(172-174)GGG>GCG p.G58A XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 58 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CACAAGGATGGGCTGACGGTC 0.532 NA 36 90 0 0 0.00874 0 0 ZNF35 7584 broad.mit.edu 37 3 44701145 44701145 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:44701145C>T uc003cnq.2 + 4 1511 c.1290C>T c.(1288-1290)CTC>CTT p.L430L ZNF35_uc003cnr.2_Silent_p.L270L NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 430 C2H2-type 8. Missing (in Ref. 1; CAA30268). cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) TCAGTCAGCTCTCTTGCCTTA 0.443 NA 19 74 0 0 0.008871 0 0 CELSR3 1951 broad.mit.edu 37 3 48686568 48686568 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:48686568C>T uc003cul.2 - 17 6834 c.6553G>A c.(6553-6555)GAG>AAG p.E2185K CELSR3_uc003cuf.1_Missense_Mutation_p.E2255K|CELSR3_uc010hkg.2_Missense_Mutation_p.E168K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2185 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGACTGAGCTCTCGAAAGGCA 0.607 NA 7 14 0 0 0.004482 0 0 CELSR3 1951 broad.mit.edu 37 3 48696534 48696534 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:48696534G>C uc003cul.2 - 1 3815 c.3534C>G c.(3532-3534)AAC>AAG p.N1178K CELSR3_uc003cuf.1_Missense_Mutation_p.N1248K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1178 Extracellular (Potential).|Cadherin 9. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGATACATAGTTGTTGAAGA 0.547 NA 4 69 0 0 0.009096 0 0 IP6K2 51447 broad.mit.edu 37 3 48725789 48725789 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:48725789C>T uc003cup.2 - 6 1442 c.1198G>A c.(1198-1200)GAG>AAG p.E400K NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.E400K NM_001005909 NP_001005909 Q9UHH9 IP6K2_HUMAN inositol hexaphosphate kinase 2 isoform a 400 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 TCCTGGCCCTCATGCACCACG 0.557 NA 26 40 0 0 0.009535 0 0 ACOX2 8309 broad.mit.edu 37 3 58508312 58508312 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:58508312C>A uc003dkl.2 - 12 1718 c.1543G>T c.(1543-1545)GTG>TTG p.V515L NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 515 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) AAATGCTGCACTGAGTCCTTT 0.527 NA 15 62 3.27435e-08 3.62951e-08 0.020292 1 0 FHIT 2272 broad.mit.edu 37 3 59737985 59737985 + Silent SNP T T A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:59737985T>A uc003dkx.3 - 9 782 c.411A>T c.(409-411)GCA>GCT p.A137A FHIT_uc003dky.2_Silent_p.A137A|FHIT_uc010hnn.1_Silent_p.A137A NM_002012 NP_002003 P49789 FHIT_HUMAN fragile histidine triad gene 137 nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding 0 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) CTGCGGCTTCTGCTGCCATTT 0.517 NA T HMGA2 pleomorphic salivary gland adenoma Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 6 77 0 0 0.004482 0 0 MITF 4286 broad.mit.edu 37 3 69987181 69987181 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:69987181A>C uc003dnz.2 + 3 679 c.563A>C c.(562-564)AAC>ACC p.N188T MITF_uc011bgb.1_Missense_Mutation_p.N136T|MITF_uc003doa.2_Missense_Mutation_p.N187T|MITF_uc003dob.2_Missense_Mutation_p.N172T|MITF_uc003dod.2_Missense_Mutation_p.N163T|MITF_uc003doe.2_Missense_Mutation_p.N81T|MITF_uc003dof.2_Missense_Mutation_p.N81T NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 188 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CTTACGCTTAACTCCAACTGT 0.493 Melanoma(29;269 969 31479 41502 42961) NA A melanoma Waardenburg syndrome type 2|Tietz syndrome 11 42 0 0 0.016723 0 0 SENP7 57337 broad.mit.edu 37 3 101060619 101060619 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:101060619G>A uc003dut.2 - 15 2222 c.2111C>T c.(2110-2112)TCA>TTA p.S704L SENP7_uc003duu.2_Missense_Mutation_p.S639L|SENP7_uc003duv.2_Missense_Mutation_p.S671L|SENP7_uc003duw.2_Missense_Mutation_p.S638L|SENP7_uc003dux.2_Missense_Mutation_p.S540L NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 704 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 ATCTGTGTTTGAGGGCTGACA 0.418 NA 4 43 0 0 0.009096 0 0 POLQ 10721 broad.mit.edu 37 3 121230866 121230866 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:121230866G>A uc003eee.3 - 10 1608 c.1479C>T c.(1477-1479)ATC>ATT p.I493I NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 493 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TACAAATTAAGATACTCTCGC 0.378 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 10 46 0 0 0.006214 0 0 ABCC5 10057 broad.mit.edu 37 3 183639187 183639187 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:183639187C>T uc003fmg.2 - 30 4380 c.4215G>A c.(4213-4215)GTG>GTA p.V1405V ABCC5_uc011bqt.1_Silent_p.V933V|ABCC5_uc010hxl.2_Silent_p.V1362V NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1405 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAAACTCCACCACCTGCAAAA 0.557 NA 10 39 0 0 0.008291 0 0 EPHB3 2049 broad.mit.edu 37 3 184297342 184297342 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:184297342G>C uc003foz.2 + 10 2316 c.1879G>C c.(1879-1881)GAG>CAG p.E627Q NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 627 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GTTTGCCAAGGAGATCGACGT 0.557 NA 5 57 0 0 0.014758 0 0 ZNF721 170960 broad.mit.edu 37 4 437398 437398 + Silent SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:437398A>G uc003gag.2 - 3 1549 c.858T>C c.(856-858)TTT>TTC p.F286F ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.F318F|ZNF721_uc010ibe.2_Silent_p.F274F NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 286 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TGGAAATATTAAAGGCTTTAC 0.393 NA 13 67 0 0 0.016723 0 0 WFS1 7466 broad.mit.edu 37 4 6296864 6296864 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:6296864A>T uc003giy.2 + 7 975 c.809A>T c.(808-810)GAT>GTT p.D270V WFS1_uc003gix.2_Missense_Mutation_p.D270V|WFS1_uc003giz.2_Missense_Mutation_p.D88V NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 270 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GACGACGAAGATGATGACGAG 0.597 NA 13 59 0 0 0.013537 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984969 41984969 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:41984969G>A uc003gwk.2 + 1 1257 c.1160G>A c.(1159-1161)CGG>CAG p.R387Q NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 387 skin(1) 1 ATGGCTGTCCGGCAGGACCTT 0.567 NA 6 40 0 0 0.00308 0 0 KCTD8 386617 broad.mit.edu 37 4 44449818 44449818 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:44449818G>A uc003gwu.2 - 1 1007 c.723C>T c.(721-723)ATC>ATT p.I241I NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 241 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TGGCCAGCGCGATGCGCCCGC 0.667 NA HNSCC(17;0.042) 3 11 0 0 0.004672 0 0 SPATA18 132671 broad.mit.edu 37 4 52928477 52928477 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:52928477A>C uc003gzl.2 + 4 679 c.401A>C c.(400-402)CAA>CCA p.Q134P SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.Q134P|SPATA18_uc003gzk.1_Missense_Mutation_p.Q134P NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 134 Potential. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) ACCCGGAGTCAATGCAACCAG 0.363 NA 5 137 0 0 0.014758 0 0 LPHN3 23284 broad.mit.edu 37 4 62599069 62599069 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:62599069A>T uc010ihh.2 + 5 1165 c.992A>T c.(991-993)GAC>GTC p.D331V LPHN3_uc003hcq.3_Missense_Mutation_p.D331V|LPHN3_uc010ihg.1_Missense_Mutation_p.D399V|LPHN3_uc003hcs.1_Missense_Mutation_p.D160V NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 331 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GAGGATGATGACAATGAGGCT 0.378 NA 6 54 0 0 0.021553 0 0 MUC7 4589 broad.mit.edu 37 4 71347020 71347020 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:71347020G>C uc011cat.1 + 4 847 c.559G>C c.(559-561)GAG>CAG p.E187Q MUC7_uc011cau.1_Missense_Mutation_p.E187Q|MUC7_uc003hfj.2_Missense_Mutation_p.E187Q|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 187 1.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) AGCTCCACCAGAGACCACAGC 0.587 NA 21 122 0 0 0.012319 0 0 AFP 174 broad.mit.edu 37 4 74308075 74308075 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:74308075C>G uc003hgz.1 + 5 592 c.545C>G c.(544-546)GCT>GGT p.A182G AFP_uc003hha.1_Missense_Mutation_p.A182G|AFP_uc011cbg.1_5'UTR NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 182 Albumin 1. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTCTTTGGGCTGCTCGCTAT 0.378 NA Alpha-Fetoprotein_Hereditary_Persistence_of 22 38 0 0 0.014323 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660856 77660856 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:77660856G>A uc011cbx.1 + 5 2483 c.1530G>A c.(1528-1530)AAG>AAA p.K510K SHROOM3_uc011cbz.1_Silent_p.K334K|SHROOM3_uc003hkf.1_Silent_p.K385K|SHROOM3_uc003hkg.2_Silent_p.K288K NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 510 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CATGCAACAAGATGGCTACCA 0.547 NA 15 109 0 0 0.00499 0 0 EMCN 51705 broad.mit.edu 37 4 101331503 101331503 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:101331503G>C uc003hvr.2 - 11 940 c.761C>G c.(760-762)TCT>TGT p.S254C EMCN_uc011cel.1_Missense_Mutation_p.S241C|EMCN_uc011cem.1_Missense_Mutation_p.S171C NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 254 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) TCCTTGTGCAGAGTGCTCACC 0.378 NA 14 120 0 0 0.028581 0 0 NHEDC1 150159 broad.mit.edu 37 4 103806449 103806449 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:103806449C>T uc003hwu.2 - 12 1491 c.1369G>A c.(1369-1371)GAG>AAG p.E457K CISD2_uc003hwt.3_Silent_p.L60L|NHEDC1_uc010ilm.2_Missense_Mutation_p.E224K|NHEDC1_uc003hwv.2_Intron NM_001100874 NP_001094344 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 2 Error:Variant_position_missing_in_Q4ZJI4_after_alignment integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) GTCCATTCCTCCCGAAGAAGA 0.373 NA 22 92 0 0 0.016522 0 0 ARSJ 79642 broad.mit.edu 37 4 114824400 114824400 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:114824400C>A uc003ibq.1 - 2 1718 c.830G>T c.(829-831)AGG>ATG p.R277M ARSJ_uc010imu.1_Missense_Mutation_p.R277M|ARSJ_uc010imv.1_Missense_Mutation_p.R105M NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 277 extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTCGAAATACCTGCCAGGAGC 0.423 NA 16 74 2.35188e-11 2.71471e-11 0.006122 1 0 NDST3 9348 broad.mit.edu 37 4 118975516 118975516 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:118975516G>A uc003ibx.2 + 2 854 c.451G>A c.(451-453)GAT>AAT p.D151N NDST3_uc011cgf.1_Missense_Mutation_p.D151N|NDST3_uc003ibw.2_Missense_Mutation_p.D151N NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 151 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 AAGCCTTCTAGATAAATACTG 0.338 NA 8 52 0 0 0.006214 0 0 USP53 54532 broad.mit.edu 37 4 120213799 120213799 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:120213799C>G uc003ics.3 + 18 3721 c.2655C>G c.(2653-2655)ATC>ATG p.I885M USP53_uc003icr.3_Missense_Mutation_p.I885M|USP53_uc003icu.3_Missense_Mutation_p.I508M NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 885 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 AACAAAATATCATGGATCAAT 0.408 NA 10 42 0 0 0.008291 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160266332 160266332 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr4:160266332G>T uc003iqg.3 + 18 3180 c.2870G>T c.(2869-2871)CGT>CTT p.R957L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 957 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AAGCGGGTACGTCGTAGTTCC 0.443 NA 98 108 8.84886e-50 1.12014e-49 0.01441 1 0 CDH6 1004 broad.mit.edu 37 5 31316422 31316422 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:31316422G>T uc003jhe.1 + 9 1824 c.1498G>T c.(1498-1500)GCA>TCA p.A500S CDH6_uc003jhd.1_Missense_Mutation_p.A500S NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 500 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CTGTGAAAAAGCAAAGGCAGA 0.313 NA 25 33 1.1804e-14 1.38929e-14 0.021523 1 0 AGXT2 64902 broad.mit.edu 37 5 35010148 35010148 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:35010148C>T uc003jjf.2 - 12 1374 c.1295G>A c.(1294-1296)CGA>CAA p.R432Q AGXT2_uc003jje.1_Missense_Mutation_p.R85Q|AGXT2_uc011com.1_Missense_Mutation_p.R357Q NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 432 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ACCTTTGCCTCGGACGTCTCC 0.448 NA 17 76 0 0 0.028581 0 0 SPEF2 79925 broad.mit.edu 37 5 35771819 35771819 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:35771819G>T uc003jjo.2 + 27 4021 c.3910G>T c.(3910-3912)GAG>TAG p.E1304* SPEF2_uc003jjp.1_Nonsense_Mutation_p.E790*|SPEF2_uc003jjr.2_5'Flank NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1304 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTCAAAAAGGAGCCACCCAA 0.403 NA 18 52 3.41278e-10 3.85433e-10 0.00499 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64747409 64747409 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:64747409G>A uc003jtp.2 - 7 1780 c.966C>T c.(964-966)CTC>CTT p.L322L ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 322 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AGAAGCTATCGAGGGACTTGT 0.413 NA 28 50 0 0 0.00632 0 0 GCNT4 51301 broad.mit.edu 37 5 74325767 74325767 + Silent SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:74325767T>C uc003kdn.2 - 1 958 c.96A>G c.(94-96)CTA>CTG p.L32L NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 32 Helical; Signal-anchor for type II membrane protein; (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) GTCTCACATTTAGAAGCTTTA 0.363 NA 61 210 0 0 0.01441 0 0 THBS4 7060 broad.mit.edu 37 5 79378926 79378926 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:79378926G>A uc003kgh.2 + 23 3171 c.2848G>A c.(2848-2850)GAG>AAG p.E950K uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 950 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GGACTTCCAAGAGTTTCAAAC 0.502 NA OREG0016685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 134 0 0 0.009718 0 0 NR2F1 7025 broad.mit.edu 37 5 92929473 92929473 + Silent SNP C C T rs138827038 byFrequency TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:92929473C>T uc003kkj.2 + 3 2884 c.1197C>T c.(1195-1197)ATC>ATT p.I399I NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 399 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AAACCCCCATCGAAACTCTCA 0.572 NA 23 95 0 0 0.01892 0 0 SKP1 6500 broad.mit.edu 37 5 133502893 133502893 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:133502893G>C uc003kzc.3 - 3 318 c.139C>G c.(139-141)CTA>GTA p.L47V SKP1_uc003kzd.3_Missense_Mutation_p.L47V|SKP1_uc010jdv.2_Missense_Mutation_p.L47V NM_170679 NP_733779 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 isoform b 47 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACATTTGGTAGAGGAACTGGG 0.303 NA 29 48 0 0 0.010818 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249821 140249821 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:140249821C>T uc003lia.2 + 1 1991 c.1133C>T c.(1132-1134)TCA>TTA p.S378L 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_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.S378L NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 378 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCGTGACTCAGGTGTCAAC 0.587 NA 18 91 0 0 0.006122 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719744 140719744 + Nonsense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:140719744C>A uc003ljk.1 + 1 1391 c.1206C>A c.(1204-1206)TAC>TAA p.Y402* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Nonsense_Mutation_p.Y402* NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 402 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAATTACTACCGACTGGTTA 0.463 NA 34 57 2.42023e-17 2.8809e-17 0.015359 1 0 PPARGC1B 133522 broad.mit.edu 37 5 149214257 149214257 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:149214257C>A uc003lrc.2 + 6 1768 c.1726C>A c.(1726-1728)CTG>ATG p.L576M PPARGC1B_uc003lrb.1_Missense_Mutation_p.L576M|PPARGC1B_uc003lrd.2_Missense_Mutation_p.L537M|PPARGC1B_uc003lrf.2_Missense_Mutation_p.L555M|PPARGC1B_uc003lre.1_Missense_Mutation_p.L555M NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 576 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GTGCCTCATGCTGGCCTTGTC 0.433 NA OREG0016922 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 77 2.7689e-08 3.07737e-08 0.001984 1 0 GRIA1 2890 broad.mit.edu 37 5 152870470 152870470 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:152870470T>C uc003lva.3 + 1 387 c.22T>C c.(22-24)TTC>CTC p.F8L GRIA1_uc003luy.3_Missense_Mutation_p.F8L|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.F8L|GRIA1_uc011dcx.1_5'Flank|GRIA1_uc011dcy.1_5'Flank|GRIA1_uc011dcz.1_5'Flank|GRIA1_uc010jia.1_Intron NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 8 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTTTGCCTTCTTCTGCACCGG 0.502 NA 13 338 0 0 0.016723 0 0 ATP10B 23120 broad.mit.edu 37 5 160047786 160047786 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:160047786C>T uc003lym.1 - 15 2831 c.1984G>A c.(1984-1986)GAG>AAG p.E662K ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.E220K NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 662 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCATCTCTCTCATCCGAGTCT 0.582 NA 25 52 0 0 0.016522 0 0 GABRG2 2566 broad.mit.edu 37 5 161580236 161580236 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:161580236A>C uc003lyz.3 + 9 1624 c.1266A>C c.(1264-1266)GAA>GAC p.E422D GABRG2_uc010jjc.2_Missense_Mutation_p.E470D|GABRG2_uc003lyy.3_Missense_Mutation_p.E430D|GABRG2_uc011dej.1_Missense_Mutation_p.E327D NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 422 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GCTGTTTTGAAGATTGTCGAA 0.468 NA 25 155 0 0 0.01892 0 0 ODZ2 57451 broad.mit.edu 37 5 167420063 167420063 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:167420063G>A uc010jjd.2 + 5 1062 c.1062G>A c.(1060-1062)AGG>AGA p.R354R ODZ2_uc003lzq.2_Silent_p.R233R|ODZ2_uc003lzr.3_Silent_p.R163R NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGCTGCCCAGGAATACTTTCT 0.602 NA 17 66 0 0 0.028581 0 0 DOCK2 1794 broad.mit.edu 37 5 169111353 169111353 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:169111353A>C uc003maf.2 + 8 840 c.760A>C c.(760-762)AGT>CGT p.S254R DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 254 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AACGGTCATAAGGTAGGTGTG 0.488 NA 9 132 0 0 0.004482 0 0 DOCK2 1794 broad.mit.edu 37 5 169508967 169508967 + Silent SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr5:169508967C>A uc003maf.2 + 51 5489 c.5409C>A c.(5407-5409)GTC>GTA p.V1803V DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.V1295V|DOCK2_uc003mah.2_Silent_p.V359V NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1803 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAAGAAGGTCAATCAGTTCT 0.512 NA 18 66 1.96292e-10 2.24105e-10 0.010504 1 0 HLA-H 3136 broad.mit.edu 37 6 29855800 29855800 + Missense_Mutation SNP T T A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:29855800T>A uc010jro.2 + 2 89 c.37T>A c.(37-39)TCC>ACC p.S13T HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H; 0 CCGCTTCATCTCCGTCGGCTA 0.692 NA 3 12 0 0 0.014758 0 0 MDC1 9656 broad.mit.edu 37 6 30672360 30672360 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:30672360C>A uc003nrg.3 - 10 5040 c.4600G>T c.(4600-4602)GCC>TCC p.A1534S MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.A1141S NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1534 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 AGCTCAGGGGCTGCGGGCACA 0.587 NA Other_conserved_DNA_damage_response_genes 64 299 1.42676e-28 1.78452e-28 0.01441 1 0 ZBTB12 221527 broad.mit.edu 37 6 31868936 31868936 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:31868936G>A uc003nyd.1 - 2 323 c.147C>T c.(145-147)GTC>GTT p.V49V C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 49 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGGCCAAGATGACCTTGTGGC 0.632 NA 5 34 0 0 0.021553 0 0 PACSIN1 29993 broad.mit.edu 37 6 34496627 34496627 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:34496627G>C uc003ojo.2 + 4 635 c.429G>C c.(427-429)CAG>CAC p.Q143H PACSIN1_uc003ojp.2_Missense_Mutation_p.Q143H NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 143 endocytosis protein kinase activity 0 GCAAGGCCCAGAAGCCTTGGG 0.607 NA 46 33 0 0 0.01441 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773660 35773660 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:35773660C>T uc003olg.1 + 1 590 c.213C>T c.(211-213)AAC>AAT p.N71N NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 71 Helical; (Potential). integral to membrane skin(1) 1 GCGTGGGTAACGTGCTGTCCT 0.587 NA 37 179 0 0 0.019004 0 0 DNAH8 1769 broad.mit.edu 37 6 38747797 38747797 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:38747797C>T uc003ooe.1 + 13 2044 c.1444C>T c.(1444-1446)CGT>TGT p.R482C 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 CACAATAGAGCGTATTCTTCA 0.323 NA 4 55 0 0 0.021553 0 0 C6orf130 221443 broad.mit.edu 37 6 41036604 41036604 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:41036604C>T uc003opm.2 - 5 504 c.332G>A c.(331-333)GGA>GAA p.G111E UNC5CL_uc010jxe.1_Intron|C6orf130_uc010jxg.2_Missense_Mutation_p.G111E|C6orf130_uc003opn.2_Intron NM_145063 NP_659500 Q9Y530 CF130_HUMAN hypothetical protein LOC221443 111 Macro. 0 Ovarian(28;0.0418)|Colorectal(47;0.196) GTCAGTGACTCCATTCTTCAG 0.408 NA 9 63 0 0 0.006214 0 0 UBR2 23304 broad.mit.edu 37 6 42657311 42657311 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:42657311C>G uc011dur.1 + 46 5029 c.5029C>G c.(5029-5031)CGG>GGG p.R1677G UBR2_uc011dus.1_Missense_Mutation_p.R1322G|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Missense_Mutation_p.R265G|UBR2_uc011duu.1_Missense_Mutation_p.R69G NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1677 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CTACAGAGTACGGGAATGTCA 0.393 NA 5 717 0 0 0.014758 0 0 TRAM2 9697 broad.mit.edu 37 6 52370505 52370505 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:52370505C>A uc003paq.2 - 9 916 c.767G>T c.(766-768)CGC>CTC p.R256L EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA NM_012288 NP_036420 Q15035 TRAM2_HUMAN translocation-associated membrane protein 2 256 TLC.|Helical; (Potential). collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding 0 Lung NSC(77;0.109) GATGAAGAGGCGGGTAACCCC 0.537 NA 36 46 6.70999e-13 7.76653e-13 0.019004 1 0 GFRAL 389400 broad.mit.edu 37 6 55264023 55264023 + Missense_Mutation SNP G G C rs137898068 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:55264023G>C uc003pcm.1 + 7 1084 c.998G>C c.(997-999)AGA>ACA p.R333T NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 333 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTGTATACAAGAAAACATGCA 0.274 NA 7 30 0 0 0.00308 0 0 FAM135A 57579 broad.mit.edu 37 6 71248050 71248050 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:71248050C>G uc003pfj.2 + 18 4307 c.4174C>G c.(4174-4176)CGA>GGA p.R1392G FAM135A_uc003pfi.2_Missense_Mutation_p.R1196G|FAM135A_uc003pfh.2_Missense_Mutation_p.R1179G|FAM135A_uc003pfl.2_Missense_Mutation_p.R1059G|FAM135A_uc003pfn.2_Missense_Mutation_p.R598G|FAM135A_uc003pfo.1_Missense_Mutation_p.R763G|FAM135A_uc010kan.1_Intron NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1392 central_nervous_system(1) 1 GCTGACATGTCGAGATCACTC 0.323 NA 10 60 0 0 0.008291 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90566859 90566859 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:90566859C>G uc003pnr.2 + 6 553 c.357C>G c.(355-357)ATC>ATG p.I119M CASP8AP2_uc003pns.2_Missense_Mutation_p.I119M|CASP8AP2_uc003pnt.2_Missense_Mutation_p.I119M|CASP8AP2_uc011dzz.1_Missense_Mutation_p.I119M NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 119 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CAGCACTTATCAAAACTGCCA 0.338 Colon(187;1656 2025 17045 31481 39901) NA 4 10 0 0 0.014758 0 0 C6orf170 221322 broad.mit.edu 37 6 121402010 121402010 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:121402010C>T uc003pyo.1 - 32 3749 c.3681G>A c.(3679-3681)GTG>GTA p.V1227V NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 1227 Rab-GAP TBC. multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) AATAATCACTCACTCGAAACC 0.358 NA 33 46 0 0 0.012213 0 0 ECHDC1 55862 broad.mit.edu 37 6 127636021 127636021 + Missense_Mutation SNP G G A rs146146402 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:127636021G>A uc003qax.2 - 5 491 c.455C>T c.(454-456)GCG>GTG p.A152V ECHDC1_uc003qaz.3_Missense_Mutation_p.A146V|ECHDC1_uc010key.2_Missense_Mutation_p.A71V|ECHDC1_uc003qay.3_Silent_p.C128C|ECHDC1_uc010kez.2_Silent_p.C53C|ECHDC1_uc010kex.2_RNA NM_001139510 NP_001132982 Q9NTX5 ECHD1_HUMAN enoyl Coenzyme A hydratase domain containing 1 152 catalytic activity 0 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) TTGAACCAGCGCAACACTTAT 0.289 NA 9 67 0 0 0.010729 0 0 OLIG3 167826 broad.mit.edu 37 6 137815158 137815158 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:137815158C>T uc003qhp.1 - 1 374 c.150G>A c.(148-150)AAG>AAA p.K50K NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CCCCGGGCATCTTCTGCATCA 0.517 NA 4 148 0 0 0.014758 0 0 SHPRH 257218 broad.mit.edu 37 6 146264343 146264343 + Missense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:146264343G>T uc003qlf.2 - 9 2573 c.2174C>A c.(2173-2175)TCC>TAC p.S725Y SHPRH_uc003qld.2_Missense_Mutation_p.S725Y|SHPRH_uc003qle.2_Missense_Mutation_p.S725Y|SHPRH_uc003qlg.1_Missense_Mutation_p.S281Y|SHPRH_uc003qlj.1_Missense_Mutation_p.S614Y NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 725 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GTGACAGATGGAACTTGGAGA 0.473 NA 8 94 0.00307968 0.00327509 0.00308 1 0 GRM1 2911 broad.mit.edu 37 6 146720735 146720735 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr6:146720735G>A uc010khw.1 + 8 3030 c.2560G>A c.(2560-2562)GAT>AAT p.D854N GRM1_uc010khv.1_Missense_Mutation_p.D854N|GRM1_uc003qll.2_Missense_Mutation_p.D854N|GRM1_uc011edz.1_Missense_Mutation_p.D854N|GRM1_uc011eea.1_Missense_Mutation_p.D854N NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 854 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CACCACCTCTGATGTTGTCCG 0.532 NA 10 54 0 0 0.006214 0 0 CARD11 84433 broad.mit.edu 37 7 2946328 2946328 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:2946328C>T uc003smv.2 - 25 3813 c.3409G>A c.(3409-3411)GAC>AAC p.D1137N NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1137 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCGATCTTGTCCTTGACAACG 0.662 NA Mis DLBCL 8 74 0 0 0.004482 0 0 FBXL18 80028 broad.mit.edu 37 7 5540616 5540616 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:5540616G>A uc003soo.2 - 3 1378 c.1284C>T c.(1282-1284)TCC>TCT p.S428S FBXL18_uc003son.3_Silent_p.S428S NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 428 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) cgcgcggcgcggAGTCAGCGA 0.557 NA 5 15 0 0 0.021553 0 0 PHF14 9678 broad.mit.edu 37 7 11068332 11068332 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:11068332C>T uc003sry.1 + 7 1777 c.1342C>T c.(1342-1344)CGC>TGC p.R448C PHF14_uc011jxi.1_Missense_Mutation_p.R163C|PHF14_uc003srz.2_Missense_Mutation_p.R448C|PHF14_uc011jxj.1_Missense_Mutation_p.R163C NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 448 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGAAGACCCTCGCTTTGCTAG 0.433 NA 8 56 0 0 0.004482 0 0 STK31 56164 broad.mit.edu 37 7 23830456 23830456 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:23830456C>T uc003sws.3 + 22 2718 c.2651C>T c.(2650-2652)TCG>TTG p.S884L STK31_uc003swt.3_Missense_Mutation_p.S861L|STK31_uc011jze.1_Missense_Mutation_p.S884L|STK31_uc010kuq.2_Missense_Mutation_p.S861L|STK31_uc003swv.1_Missense_Mutation_p.S50L NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 884 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CAGCGAGCCTCGGTGAACATG 0.398 NA 7 73 0 0 0.004482 0 0 AQP1 358 broad.mit.edu 37 7 30963079 30963079 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:30963079G>A uc003tbv.1 + 4 702 c.645G>A c.(643-645)GGG>GGA p.G215G AQP1_uc011kac.1_Silent_p.G275G|AQP1_uc010kwf.1_Silent_p.G132G|AQP1_uc010kwg.1_Silent_p.G96G|AQP1_uc010kwh.1_Silent_p.G164G NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 215 Helical; Name=Helix 6. ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) TCTGGGTGGGGCCATTCATCG 0.612 NA 10 69 0 0 0.008291 0 0 BBS9 27241 broad.mit.edu 37 7 33427662 33427662 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:33427662G>A uc003tdn.1 + 19 2534 c.2021G>A c.(2020-2022)CGG>CAG p.R674Q BBS9_uc003tdo.1_Missense_Mutation_p.R639Q|BBS9_uc003tdp.1_Missense_Mutation_p.R669Q|BBS9_uc003tdq.1_Missense_Mutation_p.R634Q|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.R198Q|BBS9_uc003tds.1_Missense_Mutation_p.R97Q|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 674 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GTACAATTTCGGGCCATTCAA 0.403 NA Bardet-Biedl_syndrome 22 278 0 0 0.016522 0 0 SUN3 256979 broad.mit.edu 37 7 48033980 48033980 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:48033980C>G uc003tof.2 - 9 890 c.793G>C c.(793-795)GAG>CAG p.E265Q SUN3_uc010kyq.2_Missense_Mutation_p.E165Q|SUN3_uc003tog.2_Missense_Mutation_p.E265Q|SUN3_uc011kcf.1_Missense_Mutation_p.E253Q NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 265 SUN. integral to membrane central_nervous_system(1) 1 GAGATGTGCTCCATGGTAACA 0.458 NA 26 193 0 0 0.027356 0 0 SUN3 256979 broad.mit.edu 37 7 48035654 48035654 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:48035654C>T uc003tof.2 - 8 764 c.667G>A c.(667-669)GAA>AAA p.E223K SUN3_uc010kyq.2_Missense_Mutation_p.E123K|SUN3_uc003tog.2_Missense_Mutation_p.E223K|SUN3_uc011kcf.1_Missense_Mutation_p.E211K NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 223 SUN. integral to membrane central_nervous_system(1) 1 GGAGGCATTTCATGATTTAGG 0.284 NA 20 131 0 0 0.012319 0 0 IKZF1 10320 broad.mit.edu 37 7 50455159 50455159 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:50455159C>G uc003tow.3 + 7 874 c.706C>G c.(706-708)CTG>GTG p.L236V IKZF1_uc003tox.3_Intron|IKZF1_uc003toy.3_Intron|IKZF1_uc011kck.1_Missense_Mutation_p.L149V|IKZF1_uc003toz.3_Missense_Mutation_p.L206V|IKZF1_uc010kyx.2_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 236 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(74) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TCCGGGCACACTGTACCCAGG 0.582 NA D ALL 9 15 0 0 0.006214 0 0 POM121L12 285877 broad.mit.edu 37 7 53103781 53103781 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:53103781C>G uc003tpz.2 + 1 433 c.417C>G c.(415-417)ATC>ATG p.I139M NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 139 0 CGGTGACCATCGGGATCGCGC 0.582 NA 4 48 0 0 0.014758 0 0 ZP3 7784 broad.mit.edu 37 7 76058924 76058924 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:76058924G>C uc003ufd.3 + 2 415 c.405G>C c.(403-405)GAG>GAC p.E135D ZP3_uc003ufc.3_Missense_Mutation_p.E84D|ZP3_uc003ufe.2_Missense_Mutation_p.E43D NM_001110354 NP_001103824 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 isoform 1 135 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding 0 ACCGCGCAGAGATTCCCATCG 0.622 NA 25 26 0 0 0.021523 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966042 88966042 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:88966042C>G uc011khi.1 + 4 4284 c.3746C>G c.(3745-3747)TCG>TGG p.S1249W NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1249 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTTCATTTTCGACTCTGACT 0.458 NA HNSCC(36;0.09) 9 158 0 0 0.008291 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762501 92762501 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:92762501G>A uc003umh.1 - 5 4000 c.2784C>T c.(2782-2784)CTC>CTT p.L928L SAMD9L_uc003umj.1_Silent_p.L928L|SAMD9L_uc003umi.1_Silent_p.L928L|SAMD9L_uc010lfb.1_Silent_p.L928L|SAMD9L_uc003umk.1_Silent_p.L928L|SAMD9L_uc010lfc.1_Silent_p.L928L|SAMD9L_uc010lfd.1_Silent_p.L928L|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 928 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CATAAGAGCTGAGTAAAGCCA 0.368 NA 12 10 0 0 0.016723 0 0 PTCD1 26024 broad.mit.edu 37 7 99022694 99022694 + Silent SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:99022694G>A uc003uqh.2 - 6 1592 c.1461C>T c.(1459-1461)ATC>ATT p.I487I PTCD1_uc011kiw.1_Silent_p.I536I NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 487 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGAGGGTCCTGATGTCGGGCT 0.647 NA 22 27 0 0 0.014323 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431286 117431286 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:117431286G>A uc003vjf.2 - 4 2056 c.1964C>T c.(1963-1965)TCC>TTC p.S655F NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 655 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AATGACAAGGGAACTGTCTGA 0.577 NA 6 65 0 0 0.021553 0 0 DGKI 9162 broad.mit.edu 37 7 137282598 137282598 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:137282598C>T uc003vtt.2 - 12 1307 c.1306G>A c.(1306-1308)GGA>AGA p.G436R DGKI_uc003vtu.2_Missense_Mutation_p.G136R NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 436 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CCTACCGTTCCATCCCCACCA 0.393 NA 8 27 0 0 0.004482 0 0 AGAP3 116988 broad.mit.edu 37 7 150817229 150817229 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:150817229C>T uc003wjg.1 + 8 1128 c.1125C>T c.(1123-1125)TTC>TTT p.F375F AGAP3_uc003wje.1_Silent_p.F147F|AGAP3_uc003wjf.1_Silent_p.F375F|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.F555F|AGAP3_uc003wji.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 339 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 CCAACATCTTCACGGTACGTG 0.687 NA 6 16 0 0 0.021553 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497624 1497624 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:1497624C>T uc003wpl.2 + 2 862 c.765C>T c.(763-765)TTC>TTT p.F255F DLGAP2_uc003wpm.2_Silent_p.F255F NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 334 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AGAGCCCCTTCGGGGACCTGT 0.667 NA 31 86 0 0 0.015359 0 0 PRSS55 203074 broad.mit.edu 37 8 10387085 10387085 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:10387085G>C uc003wta.2 + 2 238 c.223G>C c.(223-225)GAG>CAG p.E75Q uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 75 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 GATGGAGGCGGAGGTGGGTGA 0.512 NA 84 227 0 0 0.01441 0 0 DOK2 9046 broad.mit.edu 37 8 21768239 21768240 + Nonsense_Mutation DNP CC CC TA TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:21768239_21768240CC>TA uc003wzy.1 - 4 655_656 c.562_563GG>TA c.(562-564)GGG>TAG p.G188* DOK2_uc003wzx.1_Nonsense_Mutation_p.G188*|DOK2_uc003wzz.1_Nonsense_Mutation_p.G34*|DOK2_uc010lth.1_Nonsense_Mutation_p.G34* NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 188 IRS-type PTB. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CAGCTGGGTCCCTGGCTCGGGC 0.634 NA 15 32 0 0 0.004672 0 0 PPP3CC 5533 broad.mit.edu 37 8 22368701 22368701 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:22368701G>A uc003xbs.2 + 5 914 c.587G>A c.(586-588)GGA>GAA p.G196E PPP3CC_uc003xbr.1_Missense_Mutation_p.G196E|PPP3CC_uc011kzi.1_Missense_Mutation_p.G196E|PPP3CC_uc003xbt.2_Missense_Mutation_p.G196E NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 196 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TGTGTACATGGAGGAATGTCA 0.363 NA 8 102 0 0 0.00308 0 0 ADAM7 8756 broad.mit.edu 37 8 24324370 24324370 + Nonsense_Mutation SNP G G T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:24324370G>T uc003xeb.2 + 6 561 c.448G>T c.(448-450)GAG>TAG p.E150* ADAM7_uc003xea.1_Nonsense_Mutation_p.E150* NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 150 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATACTCAGATGAGGGAGAACA 0.393 NA 49 107 2.43468e-25 3.00039e-25 0.01441 1 0 CCDC25 55246 broad.mit.edu 37 8 27598009 27598009 + Nonsense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:27598009C>A uc003xgc.2 - 8 690 c.577G>T c.(577-579)GAA>TAA p.E193* CCDC25_uc003xgd.2_Nonsense_Mutation_p.E125*|CCDC25_uc011lan.1_RNA|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_RNA NM_018246 NP_060716 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 193 0 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) GACATATTTTCAACTTTCATT 0.264 NA 64 145 3.07281e-33 3.87804e-33 0.01441 1 0 TEX15 56154 broad.mit.edu 37 8 30704643 30704643 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:30704643C>T uc003xil.2 - 1 1891 c.1891G>A c.(1891-1893)GAA>AAA p.E631K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 631 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCTGGACTTTCAGAAGAACAA 0.323 NA 23 81 0 0 0.016522 0 0 LOC728024 728024 broad.mit.edu 37 8 37605166 37605166 + Silent SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:37605166G>C uc010lvx.1 - 1 356 c.210C>G c.(208-210)GTC>GTG p.V70V ERLIN2_uc003xke.3_Intron NR_003671 SubName: Full=cDNA FLJ38978 fis, clone NT2RI2004209; SubName: Full=Chromosome X open reading frame 56, isoform CRA_b; SubName: Full=Putative uncharacterized protein CXorf56; 0 CAAACTTGACGACTGCTCCAT 0.468 NA 25 55 0 0 0.01892 0 0 PRKDC 5591 broad.mit.edu 37 8 48805717 48805717 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:48805717C>G uc003xqi.2 - 32 3887 c.3830G>C c.(3829-3831)GGA>GCA p.G1277A PRKDC_uc003xqj.2_Missense_Mutation_p.G1277A|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1277 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGGAGCGCTCCTACAGTTCT 0.607 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 4 24 0 0 0.014758 0 0 PXDNL 137902 broad.mit.edu 37 8 52321922 52321922 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:52321922C>A uc003xqu.3 - 17 2363 c.2262G>T c.(2260-2262)CAG>CAT p.Q754H PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 754 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTAGGCTGGCTGCAGCAGGC 0.751 NA 5 10 5.9392e-07 6.51446e-07 0.021553 1 0 NSMAF 8439 broad.mit.edu 37 8 59512531 59512531 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:59512531C>T uc003xtt.2 - 17 1544 c.1330G>A c.(1330-1332)GAG>AAG p.E444K NSMAF_uc011lee.1_Missense_Mutation_p.E475K NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 444 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) CTGCTTACCTCTTTAAAATCC 0.333 NA 9 66 0 0 0.008291 0 0 LACTB2 51110 broad.mit.edu 37 8 71556453 71556453 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:71556453C>T uc011lfd.1 - 4 531 c.439G>A c.(439-441)GAT>AAT p.D147N LACTB2_uc003xyp.2_Missense_Mutation_p.D147N NM_016027 NP_057111 Q53H82 LACB2_HUMAN lactamase, beta 2 147 hydrolase activity|metal ion binding ovary(1) 1 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) ATGTGATCATCAGTGTGGCCA 0.363 NA 55 260 0 0 0.01441 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886265 88886265 + Translation_Start_Site SNP T T A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:88886265T>A uc003ydz.2 - 1 32 c.-65A>T c.(-67--63)GAAGC>GATGC NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C ovary(1) 1 GAAGTACCGCTTCTTTACAAG 0.582 NA 8 7 0 0 0.00308 0 0 SLC26A7 115111 broad.mit.edu 37 8 92378836 92378836 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:92378836C>T uc003yex.2 + 15 1795 c.1517C>T c.(1516-1518)TCA>TTA p.S506L SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.S506L|SLC26A7_uc003yfa.2_Missense_Mutation_p.S506L NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 506 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) AAAATTATCTCAATAAACAAC 0.328 NA 13 51 0 0 0.016723 0 0 RIMS2 9699 broad.mit.edu 37 8 104709462 104709462 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:104709462T>C uc003ylp.2 + 2 464 c.325T>C c.(325-327)TCA>CCA p.S109P NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 140 FYVE-type.|RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCATAACTGTTCATATTGCCA 0.438 NA HNSCC(12;0.0054) 3 132 0 0 0.009096 0 0 CSMD3 114788 broad.mit.edu 37 8 113316974 113316974 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:113316974T>C uc003ynu.2 - 52 8401 c.8242A>G c.(8242-8244)AGA>GGA p.R2748G CSMD3_uc003yns.2_Missense_Mutation_p.R1950G|CSMD3_uc003ynt.2_Missense_Mutation_p.R2708G|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2748 Extracellular (Potential).|Sushi 16. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTTTCATTTCTCCAACTCCAA 0.368 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 65 0 0 0.021553 0 0 TRPS1 7227 broad.mit.edu 37 8 116599829 116599829 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:116599829C>T uc003ynz.2 - 4 2519 c.2060G>A c.(2059-2061)AGA>AAA p.R687K TRPS1_uc011lhy.1_Missense_Mutation_p.R691K|TRPS1_uc003yny.2_Missense_Mutation_p.R700K|TRPS1_uc010mcy.2_Missense_Mutation_p.R687K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 687 Mediates interaction with GLI3.|C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCTGTGTGCTCTCCTGGAGAA 0.448 NA Langer-Giedion_syndrome 36 99 0 0 0.027894 0 0 OC90 729330 broad.mit.edu 37 8 133062114 133062114 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:133062114C>A uc003ytg.2 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I OC90_uc011lix.1_Intron NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 Error:Variant_position_missing_in_Q02509_after_alignment lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CTTCAGCTGCCATCTTTGGAC 0.418 NA 29 60 7.01153e-11 8.02687e-11 0.007291 1 0 KHDRBS3 10656 broad.mit.edu 37 8 136554916 136554916 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr8:136554916T>G uc003yuv.2 + 3 621 c.227T>G c.(226-228)CTT>CGT p.L76R KHDRBS3_uc003yuw.2_Missense_Mutation_p.L76R NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 76 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GTGGGGAAACTTTTGGGTCCA 0.373 NA 10 103 0 0 0.008291 0 0 CNTLN 54875 broad.mit.edu 37 9 17409351 17409351 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:17409351G>C uc003zmz.2 + 16 2699 c.2673G>C c.(2671-2673)CAG>CAC p.Q891H CNTLN_uc003zmy.2_Missense_Mutation_p.Q892H|CNTLN_uc010mio.2_Missense_Mutation_p.Q571H NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 892 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AAACATCCCAGAAAATAAGTC 0.343 NA 55 65 0 0 0.01441 0 0 BAG1 573 broad.mit.edu 37 9 33264328 33264328 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:33264328C>T uc003zsj.2 - 1 434 c.345G>A c.(343-345)GAG>GAA p.E115E SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Intron|BAG1_uc003zsk.2_5'UTR|CHMP5_uc003zsl.3_5'UTR|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank NM_004323 NP_004314 Q99933 BAG1_HUMAN BCL2-associated athanogene isoform 1L 115 7 X 6 AA tandem repeat of E-E-X(4).|4. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) TCCGATTCATCTCTTCGCCCT 0.647 GBM(77;1066 1502 5858 12192) NA 26 16 0 0 0.024334 0 0 PTCH1 5727 broad.mit.edu 37 9 98242859 98242859 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:98242859G>A uc004avk.3 - 6 946 c.758C>T c.(757-759)CCT>CTT p.P253L PTCH1_uc010mro.2_Missense_Mutation_p.P102L|PTCH1_uc010mrp.2_Missense_Mutation_p.P102L|PTCH1_uc010mrq.2_Missense_Mutation_p.P102L|PTCH1_uc004avl.3_Missense_Mutation_p.P102L|PTCH1_uc010mrr.2_Missense_Mutation_p.P187L|PTCH1_uc004avm.3_Missense_Mutation_p.P252L|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 253 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCACCGCAAAGGAGGTTTACC 0.458 NA Basal_Cell_Nevus_syndrome 8 44 0 0 0.004482 0 0 Unknown 0 broad.mit.edu 37 9 98774545 98774545 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:98774545C>G uc010msa.1 + 4 1532 c.656C>G c.(655-657)TCT>TGT p.S219C uc011lun.1_Intron RecName: Full=Uncharacterized protein C9orf102; NA TTTAACTCGTCTTCTGTAAAC 0.299 NA 3 19 0 0 0.004672 0 0 CYLC2 1539 broad.mit.edu 37 9 105767260 105767260 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:105767260A>C uc004bbs.2 + 5 417 c.347A>C c.(346-348)AAG>ACG p.K116T NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 116 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) GAAATTGGTAAGAAAGGTGAA 0.229 NA 5 54 0 0 0.00308 0 0 PAPPA 5069 broad.mit.edu 37 9 118949434 118949434 + Silent SNP G G A rs138083509 TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:118949434G>A uc004bjn.2 + 2 798 c.417G>A c.(415-417)GGG>GGA p.G139G PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 139 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GCCACATAGGGCTGTATGACA 0.408 NA 10 60 0 0 0.010729 0 0 TLR4 7099 broad.mit.edu 37 9 120476246 120476246 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:120476246G>A uc004bjz.2 + 3 2131 c.1840G>A c.(1840-1842)GAT>AAT p.D614N TLR4_uc004bka.2_Missense_Mutation_p.D574N|TLR4_uc004bkb.2_Missense_Mutation_p.D414N NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 614 LRRCT.|Extracellular (Potential). 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 AACACCTTCAGATAAGCAGGG 0.463 NA 12 28 0 0 0.010729 0 0 TLR4 7099 broad.mit.edu 37 9 120476748 120476748 + Missense_Mutation SNP A A G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:120476748A>G uc004bjz.2 + 3 2633 c.2342A>G c.(2341-2343)CAG>CGG p.Q781R TLR4_uc004bka.2_Missense_Mutation_p.Q741R|TLR4_uc004bkb.2_Missense_Mutation_p.Q581R NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 781 Cytoplasmic (Potential).|TIR. 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 CTGCTCAGGCAGCAGGTGGAG 0.537 NA 7 60 0 0 0.001984 0 0 OR5C1 392391 broad.mit.edu 37 9 125551304 125551304 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:125551304C>T uc011lzd.1 + 1 93 c.93C>T c.(91-93)CTC>CTT p.L31L NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 GTGTGGCCCTCTTCCTGACCT 0.612 NA 26 55 0 0 0.024334 0 0 CDK9 1025 broad.mit.edu 37 9 130551617 130551617 + Missense_Mutation SNP A A C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:130551617A>C uc004bse.2 + 7 1037 c.914A>C c.(913-915)GAC>GCC p.D305A NM_001261 NP_001252 P50750 CDK9_HUMAN cyclin-dependent kinase 9 305 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 CAGCGCATCGACAGCGATGAC 0.607 NA 6 26 0 0 0.001984 0 0 CARD9 64170 broad.mit.edu 37 9 139265114 139265114 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr9:139265114C>T uc004chg.3 - 5 833 c.667G>A c.(667-669)GAC>AAC p.D223N CARD9_uc011mdw.1_Missense_Mutation_p.D223N|CARD9_uc011mdx.1_Missense_Mutation_p.D119N|CARD9_uc010nbj.2_3'UTR NM_052813 NP_434700 Q9H257 CARD9_HUMAN caspase recruitment domain protein 9 isoform 1 223 Potential. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity pancreas(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) ACCTTGCAGTCGTCCTCGGCC 0.657 NA 5 39 0 0 0.021553 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821683 5821683 + Missense_Mutation SNP C C A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:5821683C>A uc010ndh.2 - 5 1537 c.1036G>T c.(1036-1038)GGC>TGC p.G346C NLGN4X_uc004crp.2_Missense_Mutation_p.G366C|NLGN4X_uc004crq.2_Missense_Mutation_p.G346C|NLGN4X_uc010ndi.2_Missense_Mutation_p.G383C|NLGN4X_uc004crr.2_Missense_Mutation_p.G346C|NLGN4X_uc010ndj.2_Missense_Mutation_p.G346C NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 346 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 ATGACGTCGCCGTCGATCACC 0.582 NA 37 19 1.00001e-27 1.24333e-27 0.009718 1 0 GK 2710 broad.mit.edu 37 X 30739036 30739036 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:30739036C>T uc004dch.3 + 18 1604 c.1425C>T c.(1423-1425)GTC>GTT p.V475V GK_uc010ngj.2_Silent_p.V469V|GK_uc004dci.3_Silent_p.V469V|GK_uc011mjz.1_Silent_p.V270V|GK_uc011mka.1_Silent_p.V312V|GK_uc010ngk.2_Silent_p.V264V NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 475 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 CAGAAGGAGTCGGCGTATGGA 0.522 NA 13 8 0 0 0.020292 0 0 CCNB3 85417 broad.mit.edu 37 X 50053789 50053789 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:50053789T>G uc004dox.3 + 6 2918 c.2620T>G c.(2620-2622)TTT>GTT p.F874V CCNB3_uc004doy.2_Missense_Mutation_p.F874V|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 874 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GGAGGCCCTCTTTAAGCGACA 0.512 NA 17 28 0 0 0.006122 0 0 KDM5C 8242 broad.mit.edu 37 X 53223699 53223699 + Silent SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:53223699G>C uc004drz.2 - 23 4193 c.3660C>G c.(3658-3660)CTC>CTG p.L1220L KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.L1153L|KDM5C_uc004dsa.2_Silent_p.L1219L|uc004dsb.1_RNA NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 1220 PHD-type 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 TCGGAGAGCTGAGGAGGCGAG 0.632 NA N|F|S clear cell renal carcinoma 5 5 0 0 0.021553 0 0 TRO 7216 broad.mit.edu 37 X 54949381 54949381 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:54949381C>T uc004dtq.2 + 3 523 c.416C>T c.(415-417)GCC>GTC p.A139V TRO_uc011moj.1_Missense_Mutation_p.A82V|TRO_uc004dts.2_Missense_Mutation_p.A139V|TRO_uc004dtr.2_Missense_Mutation_p.A139V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 139 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CCTAAGAAAGCCAACAAGATG 0.517 NA 17 13 0 0 0.006122 0 0 AR 367 broad.mit.edu 37 X 66863122 66863122 + Silent SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:66863122T>G uc004dwu.1 + 2 2756 c.1641T>G c.(1639-1641)GTT>GTG p.V547V AR_uc011mpd.1_Silent_p.V547V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.V547V|AR_uc004dwv.1_Silent_p.V15V NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 546 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GGGACCATGTTTTGCCCATTG 0.473 NA Androgen_Insensitivity_Syndrome 12 67 0 0 0.020292 0 0 COL4A5 1287 broad.mit.edu 37 X 107840675 107840675 + Silent SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:107840675T>G uc004enz.1 + 24 1858 c.1656T>G c.(1654-1656)ACT>ACG p.T552T COL4A5_uc011mso.1_Silent_p.T552T|COL4A5_uc004eob.1_Silent_p.T160T NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 552 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 ATATCCTCACTTTTCCAGGAA 0.488 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 17 52 0 0 0.00499 0 0 TFDP3 51270 broad.mit.edu 37 X 132351956 132351956 + Missense_Mutation SNP A A T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:132351956A>T uc004exb.1 - 1 421 c.332T>A c.(331-333)CTG>CAG p.L111Q NM_016521 NP_057605 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 111 Potential. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) AAGACGGCACAGGCCCATGCC 0.592 NA 63 33 0 0 0.01441 0 0 GPC3 2719 broad.mit.edu 37 X 133087112 133087112 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:133087112T>C uc004exe.1 - 2 492 c.302A>G c.(301-303)AAG>AGG p.K101R GPC3_uc010nrn.1_Missense_Mutation_p.K101R|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 101 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AATTAAGAACTTGAGCTCCAT 0.433 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 23 111 0 0 0.014323 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135758848 135758848 + Missense_Mutation SNP T T C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:135758848T>C uc004fab.2 - 18 2342 c.1880A>G c.(1879-1881)AAG>AGG p.K627R ARHGEF6_uc011mwd.1_Missense_Mutation_p.K500R|ARHGEF6_uc011mwe.1_Missense_Mutation_p.K473R NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 627 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) AAGAAATTTCTTCATCGTTTT 0.338 NA 10 33 0 0 0.010729 0 0 ATP11C 286410 broad.mit.edu 37 X 138857035 138857035 + Missense_Mutation SNP T T G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:138857035T>G uc004faz.2 - 19 2138 c.2039A>C c.(2038-2040)AAG>ACG p.K680T ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.K680T NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 680 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TGTCTCCATCTTGTCCCCAGT 0.483 NA 10 59 0 0 0.006214 0 0 CNGA2 1260 broad.mit.edu 37 X 150911915 150911915 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chrX:150911915G>A uc004fey.1 + 7 1164 c.940G>A c.(940-942)GAC>AAC p.D314N NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 314 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AAACATCACTGACCCTGAGTA 0.493 NA 19 105 0 0 0.007413 0 0 MRPL37 51253 broad.mit.edu 37 1 54666245 54666246 + Frame_Shift_Ins INS - - T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr1:54666245_54666246insT uc001cxa.3 + 1 406_407 c.329_330insT c.(328-330)CGTfs p.R110fs CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc009vzp.2_Frame_Shift_Ins_p.V80fs|MRPL37_uc001cxb.1_Frame_Shift_Ins_p.R110fs|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_RNA NM_016491 NP_057575 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 precursor 110 translation mitochondrial ribosome structural constituent of ribosome 0 TTTCACCACCGTTGCCGCCTTC 0.396 NA 17 45 --- --- --- --- NA NA NA NA NA CUBN 8029 broad.mit.edu 37 10 17164803 17164803 + Frame_Shift_Del DEL C C - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr10:17164803delC uc001ioo.2 - 6 636 c.584delG c.(583-585)GGAfs p.G195fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 195 EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTGTAACTTCCCATTGTATT 0.373 NA 10 41 --- --- --- --- NA NA NA NA NA DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 TGA TGA - - TGA TGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr11:108788635_108788637delTGA uc001pkm.2 + 17 2405_2407 c.2340_2342delTGA c.(2338-2343)AGTGAT>AGT p.D788del DDX10_uc001pkl.1_In_Frame_Del_p.D788del NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 788 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.31 NA T NUP98 AML* 8 106 --- --- --- --- NA NA NA NA NA PACS2 23241 broad.mit.edu 37 14 105814832 105814840 + In_Frame_Del DEL TGTGCAGCC TGTGCAGCC - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 TGTGCAGCC TGTGCAGCC - - TGTGCAGCC TGTGCAGCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr14:105814832_105814840delTGTGCAGCC uc001yqt.2 + 2 297_305 c.122_130delTGTGCAGCC c.(121-132)TTGTGCAGCCTG>TTG p.41_44LCSL>L PACS2_uc001yqs.2_5'UTR|PACS2_uc001yqv.2_In_Frame_Del_p.41_44LCSL>L|PACS2_uc001yqu.2_In_Frame_Del_p.41_44LCSL>L NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 41_44 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CCTCACAGGTTGTGCAGCCTGACTCTGAA 0.646 NA 10 78 --- --- --- --- NA NA NA NA NA EPN2 22905 broad.mit.edu 37 17 19216480 19216480 + Frame_Shift_Del DEL C C - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr17:19216480delC uc002gvd.3 + 7 1483 c.1035delC c.(1033-1035)GGCfs p.G345fs EPN2_uc010cql.1_Frame_Shift_Del_p.G54fs|EPN2_uc002gve.3_Frame_Shift_Del_p.G288fs|EPN2_uc002gvf.3_Frame_Shift_Del_p.G60fs|EPN2_uc010vyo.1_Frame_Shift_Del_p.G53fs|EPN2_uc002gvg.1_Frame_Shift_Del_p.G288fs|EPN2_uc010vyp.1_Frame_Shift_Del_p.G281fs|EPN2_uc010vyq.1_Frame_Shift_Del_p.G282fs|EPN2_uc002gvh.1_Frame_Shift_Del_p.G345fs|EPN2_uc002gvj.3_Frame_Shift_Del_p.G8fs NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 345 endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CCAGCTCGGGCCCCGCGGCCC 0.602 NA 37 99 --- --- --- --- NA NA NA NA NA NFIC 4782 broad.mit.edu 37 19 3434378 3434382 + Frame_Shift_Del DEL GCCCA GCCCA - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 GCCCA GCCCA - - GCCCA GCCCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr19:3434378_3434382delGCCCA uc010xhi.1 + 5 875_879 c.813_817delGCCCA c.(811-819)CTGCCCAGCfs p.L271fs NFIC_uc002lxo.2_Frame_Shift_Del_p.L262fs|NFIC_uc010xhh.1_Frame_Shift_Del_p.L262fs|NFIC_uc002lxp.2_Frame_Shift_Del_p.L271fs|NFIC_uc010xhj.1_Frame_Shift_Del_p.L271fs|NFIC_uc002lxq.1_Frame_Shift_Del_p.L223fs NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 271_273 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GAAGAACGCTGCCCAGCACCTCCTC 0.615 NA 22 27 --- --- --- --- NA NA NA NA NA LRRC3B 116135 broad.mit.edu 37 3 26751187 26751187 + Frame_Shift_Del DEL A A - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr3:26751187delA uc003cdp.2 + 2 613 c.24delA c.(22-24)TTAfs p.L8fs LRRC3B_uc003cdq.2_Frame_Shift_Del_p.L8fs NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 8 integral to membrane pancreas(2)|ovary(1)|skin(1) 4 ACCTGTGGTTAACCCGTTCCC 0.473 NA 13 187 --- --- --- --- NA NA NA NA NA FSCN3 29999 broad.mit.edu 37 7 127235473 127235473 + Frame_Shift_Del DEL G G - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 49dec0c2-8e75-4f44-a253-82b2ea605890 f09f9865-726d-41bd-b206-b8fae7d4a81b g.chr7:127235473delG uc003vmd.1 + 2 476 c.257delG c.(256-258)CGCfs p.R86fs FSCN3_uc003vmc.1_Frame_Shift_Del_p.R41fs|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Frame_Shift_Del_p.R86fs NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 86 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 TGTTATGGCCGCCCAAGGACC 0.557 NA 22 30 --- --- --- --- NA NA NA NA NA