Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PRDM16 63976 broad.mit.edu 37 1 3319489 3319489 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:3319489G>C uc001akf.2 + 6 891 c.811G>C c.(811-813)GAG>CAG p.E271Q PRDM16_uc001akc.2_Missense_Mutation_p.E271Q|PRDM16_uc001akd.2_Missense_Mutation_p.E271Q|PRDM16_uc001ake.2_Missense_Mutation_p.E271Q|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 271 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCTCAAGCCCGAGGGCCTTGG 0.622 NaN T EVI1 MDS|AML 0 0 0 0.007413 0 15 55 CHD5 26038 broad.mit.edu 37 1 6173059 6173059 + Splice_Site SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:6173059C>G uc001amb.1 - 34 5013 c.4913_splice c.e34-1 p.E1638_splice CHD5_uc001alz.1_Splice_Site_p.E495_splice|CHD5_uc001ama.1_Splice_Site NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGCACCTCCTCTGCAAGAAAA 0.562 NaN 0 0 0 0.00245 0 15 66 ZBTB48 3104 broad.mit.edu 37 1 6649195 6649195 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:6649195G>A uc009vmc.1 + 11 2113 c.1990G>A c.(1990-1992)GAG>AAG p.E664K ZBTB48_uc001anx.2_Missense_Mutation_p.E664K|ZBTB48_uc009vmd.1_Missense_Mutation_p.E664K|ZBTB48_uc001any.1_Missense_Mutation_p.E302K NM_005341 NP_005332 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 664 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) GTGTGCAGAGGAGAGCTTCAC 0.667 NaN 0 0 0 0.00245 0 15 71 CAMTA1 23261 broad.mit.edu 37 1 6885189 6885189 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:6885189C>G uc001aoi.2 + 3 360 c.153C>G c.(151-153)ATC>ATG p.I51M CAMTA1_uc001aoh.2_RNA NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ATGTAAAAATCTTTTTACCGA 0.323 NaN 0 0 0 0.005443 0 27 97 UTS2 10911 broad.mit.edu 37 1 7907829 7907829 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:7907829G>C uc001aor.2 - 4 413 c.372C>G c.(370-372)GTC>GTG p.V124V UTS2_uc001aoq.2_Intron|UTS2_uc001aos.2_Silent_p.V139V NM_006786 NP_006777 O95399 UTS2_HUMAN urotensin 2 isoform b preproprotein 124 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity 0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) TTTCACTTCAGACACAGTATT 0.373 NaN 0 0 0 0.01441 0 47 266 SRM 6723 broad.mit.edu 37 1 11115915 11115915 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:11115915C>T uc001arz.1 - 6 779 c.688G>A c.(688-690)GTG>ATG p.V230M SRM_uc001ary.1_Missense_Mutation_p.V91M NM_003132 NP_003123 P19623 SPEE_HUMAN spermidine synthase 230 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity 0 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) TAGGCCACCACGGGGAACAGG 0.642 NaN 0 0 0 0.000602 0 3 24 CROCC 9696 broad.mit.edu 37 1 17249254 17249254 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:17249254G>A uc001azt.2 + 2 226 c.157G>A c.(157-159)GAG>AAG p.E53K CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_5'UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 53 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCTTATCAGGGAGATTGTCAC 0.622 NaN 0 0 0 0.003755 0 35 109 UBR4 23352 broad.mit.edu 37 1 19487565 19487565 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:19487565A>G uc001bbi.2 - 38 5256 c.5252T>C c.(5251-5253)ATT>ACT p.I1751T UBR4_uc001bbm.1_Missense_Mutation_p.I962T NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1751 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACTCTCTGAAATCCTGGGTTC 0.517 NaN 0 0 0 0.001168 0 6 92 AKR7L 246181 broad.mit.edu 37 1 19595155 19595155 + Nonsense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:19595155C>A uc010ocx.1 - 7 745 c.745G>T c.(745-747)GAG>TAG p.E249* AKR7L_uc010ocy.1_Missense_Mutation_p.G183V NM_201252 NP_957704 aflatoxin B1 aldehyde reductase 3 isoform 1 0 AGGGCCTTCTCCACCAGGGCA 0.632 NaN 1 0 2.32078e-09 0.003163 2.39697e-09 14 86 RNF186 54546 broad.mit.edu 37 1 20141360 20141360 + Missense_Mutation SNP A A T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:20141360A>T uc001bcr.2 - 1 412 c.235T>A c.(235-237)TCC>ACC p.S79T NM_019062 NP_061935 Q9NXI6 RN186_HUMAN ring finger protein 186 79 RING-type. integral to membrane zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGGTGATGGACCAGGTGTTG 0.692 NaN 0 0 0 0.007835 0 38 26 EPHA8 2046 broad.mit.edu 37 1 22924702 22924702 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:22924702G>C uc001bfx.1 + 12 2300 c.2175G>C c.(2173-2175)CTG>CTC p.L725L NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 725 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACACCTTCCTGAGGGTGCGTG 0.627 NaN 0 0 0 0.005443 0 23 121 TCEA3 6920 broad.mit.edu 37 1 23713897 23713897 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:23713897C>T uc001bgx.1 - 9 970 c.835G>A c.(835-837)GAA>AAA p.E279K TCEA3_uc009vqm.1_Missense_Mutation_p.E48K NM_003196 NP_003187 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 279 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) TCCCTCAGTTCATCACTGGCC 0.557 NaN 0 0 0 0.00499 0 17 11 E2F2 1870 broad.mit.edu 37 1 23848342 23848342 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:23848342T>C uc001bhe.1 - 3 993 c.565A>G c.(565-567)AAC>GAC p.N189D NM_004091 NP_004082 Q14209 E2F2_HUMAN E2F transcription factor 2 189 DEF box.|Potential. G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|skin(2) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) CACTGGATGTTGTTCTTGGCC 0.602 NaN 0 0 0 0.010729 0 11 89 GRHL3 57822 broad.mit.edu 37 1 24661179 24661179 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:24661179G>A uc001biy.2 + 3 310 c.264G>A c.(262-264)AGG>AGA p.R88R GRHL3_uc001bix.2_Silent_p.R83R|GRHL3_uc001biz.2_5'UTR NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 83 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CTGGGGGCAGGAATGACCAAG 0.507 NaN 0 0 0 0.008871 0 19 211 GPN2 54707 broad.mit.edu 37 1 27216404 27216404 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:27216404C>T uc001bnd.1 - 1 466 c.184G>A c.(184-186)GAG>AAG p.E62K NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 62 GTP binding 0 CCCACCAGCTCGCCCACGTCC 0.701 NaN 0 0 0 0.004878 0 34 10 SYTL1 84958 broad.mit.edu 37 1 27675622 27675622 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:27675622G>A uc001bnw.1 + 6 678 c.511G>A c.(511-513)GAG>AAG p.E171K SYTL1_uc001bnv.1_Missense_Mutation_p.E159K|SYTL1_uc009vsu.1_Missense_Mutation_p.E159K|SYTL1_uc001bnx.2_Missense_Mutation_p.E171K|SYTL1_uc009vsv.1_Missense_Mutation_p.E171K NM_032872 NP_116261 Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 171 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding ovary(1) 1 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGATCCTGAGGAGGCGTCCCA 0.617 NaN 0 0 0 0.007413 0 20 53 FCN3 8547 broad.mit.edu 37 1 27695779 27695779 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:27695779G>C uc001boa.2 - 8 854 c.848C>G c.(847-849)TCA>TGA p.S283* MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Nonsense_Mutation_p.S272* NM_003665 NP_003656 O75636 FCN3_HUMAN ficolin 3 isoform 1 precursor 283 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACCACGGCCTGAGGCCCAGTC 0.577 NaN 0 0 0 0.010729 0 10 65 SDC3 9672 broad.mit.edu 37 1 31346158 31346158 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:31346158C>T uc001bse.2 - 5 1276 c.1229G>A c.(1228-1230)CGT>CAT p.R410H SDC3_uc001bsd.2_Missense_Mutation_p.R352H NM_014654 NP_055469 O75056 SDC3_HUMAN syndecan 3 410 Cytoplasmic (Potential). integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTTCATACGATAGATGAG 0.562 NaN 0 0 0 0.00245 0 13 66 RBBP4 5928 broad.mit.edu 37 1 33138430 33138430 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:33138430C>T uc001bvr.2 + 11 1299 c.1140C>T c.(1138-1140)TTC>TTT p.F380F RBBP4_uc001bvs.2_Silent_p.F379F|RBBP4_uc010ohj.1_Silent_p.F128F|RBBP4_uc010ohk.1_Silent_p.F345F NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 380 WD 6. cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TATCTGATTTCTCCTGGAATC 0.373 NaN 0 0 0 0.00499 0 16 96 C1orf216 127703 broad.mit.edu 37 1 36181308 36181308 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:36181308G>A uc001bzh.1 - 2 1103 c.615C>T c.(613-615)ATC>ATT p.I205I NM_152374 NP_689587 Q8TAB5 CA216_HUMAN hypothetical protein LOC127703 205 skin(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGTTGTCTAGGATGGTGTCGA 0.607 NaN OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 22 108 GRIK3 2899 broad.mit.edu 37 1 37499707 37499707 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:37499707C>T uc001caz.2 - 1 138 c.3G>A c.(1-3)ATG>ATA p.M1I GRIK3_uc001cba.1_Missense_Mutation_p.M1I NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 1 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGGGAGCGGTCATCGTTGGGC 0.771 NaN 0 0 0 0.004672 0 3 3 ZC3H12A 80149 broad.mit.edu 37 1 37947425 37947425 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:37947425C>T uc001cbb.3 + 4 957 c.807C>T c.(805-807)TTC>TTT p.F269F ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 269 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGTACTCCTTCGTCAATGACA 0.612 NaN 0 0 0 0.001855 0 13 21 EPHA10 284656 broad.mit.edu 37 1 38197174 38197174 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:38197174G>A uc009vvi.2 - 7 1658 c.1572C>T c.(1570-1572)CGC>CGT p.R524R EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 524 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAAAGACGTAGCGGGTAGCCG 0.587 NaN 0 0 0 0.01441 0 40 72 MACF1 23499 broad.mit.edu 37 1 39797480 39797480 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:39797480G>C uc010oiu.1 + 1 671 c.540G>C c.(538-540)TTG>TTC p.L180F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1745 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGTGAGCTTGAAATCAGGCC 0.488 NaN 0 0 0 0.006214 0 10 165 MACF1 23499 broad.mit.edu 37 1 39799895 39799895 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:39799895G>T uc010oiu.1 + 1 3086 c.2955G>T c.(2953-2955)CAG>CAT p.Q985H MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2550 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACATCCATCAGATTTTTAATC 0.378 NaN 1 0 7.38237e-10 0.00632 7.64262e-10 26 248 MACF1 23499 broad.mit.edu 37 1 39800966 39800966 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:39800966G>C uc010oiu.1 + 1 4157 c.4026G>C c.(4024-4026)ATG>ATC p.M1342I MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2907 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAATAACATGGGAAATGATA 0.338 NaN 0 0 0 0.008871 0 20 214 KIAA0754 643314 broad.mit.edu 37 1 39876601 39876601 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:39876601C>T uc009vvt.1 + 1 1426 c.664C>T c.(664-666)CAG>TAG p.Q222* MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 86 13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E. 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTTAGATTTCAGCAGCACAG 0.433 NaN OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010818 0 31 144 CCDC30 728621 broad.mit.edu 37 1 43042700 43042700 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:43042700G>A uc009vwk.1 + 7 975 c.865G>A c.(865-867)GAA>AAA p.E289K CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Missense_Mutation_p.E78K|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E103K NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 289 Potential. 0 GATAAAGATTGAACTAAAGCA 0.388 NaN 0 0 0 0.001855 0 13 53 IPO13 9670 broad.mit.edu 37 1 44424218 44424218 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:44424218C>G uc001ckx.2 + 10 2630 c.1835C>G c.(1834-1836)TCG>TGG p.S612W NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 612 HEAT 10. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) AACCTGCACTCGCTTATCTCA 0.562 NaN 0 0 0 0.003163 0 14 186 ERI3 79033 broad.mit.edu 37 1 44785309 44785309 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:44785309G>C uc001clt.2 - 4 838 c.597C>G c.(595-597)TTC>TTG p.F199L ERI3_uc010okv.1_Missense_Mutation_p.F22L|ERI3_uc009vxg.2_Missense_Mutation_p.F199L|ERI3_uc010okw.1_Missense_Mutation_p.F121L|ERI3_uc001clu.2_Missense_Mutation_p.F121L NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 199 Exonuclease. intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 CCTCTGTACAGAATGGGGTAA 0.512 NaN 0 0 0 0.00632 0 25 169 PLK3 1263 broad.mit.edu 37 1 45269324 45269324 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:45269324C>T uc001cmn.2 + 9 1225 c.1125C>T c.(1123-1125)CTC>CTT p.L375L PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 375 membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) TGAGCGGCCTCATGCGCACAT 0.617 NaN 0 0 0 0.00308 0 7 22 ZSWIM5 57643 broad.mit.edu 37 1 45484612 45484612 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:45484612C>G uc001cnd.2 - 14 3300 c.3072G>C c.(3070-3072)ATG>ATC p.M1024I NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 1024 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TAAGATGGCTCATGGCCAATG 0.567 NaN OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 12 87 AKR1A1 10327 broad.mit.edu 37 1 46034629 46034629 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:46034629C>T uc001cod.2 + 8 1247 c.783C>T c.(781-783)ATC>ATT p.I261I AKR1A1_uc001coe.2_Silent_p.I261I|AKR1A1_uc001cof.2_Silent_p.I67I|AKR1A1_uc001cog.2_RNA NM_006066 NP_006057 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 261 NADP (By similarity). glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) TGATCTGCATCCCCAAAAGTA 0.453 NaN 0 0 0 0.01441 0 155 114 DMBX1 127343 broad.mit.edu 37 1 46976269 46976269 + Missense_Mutation SNP T T G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:46976269T>G uc001cpx.2 + 2 306 c.291T>G c.(289-291)GAT>GAG p.D97E DMBX1_uc001cpw.2_Missense_Mutation_p.D92E NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 97 Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACTACCCAGATGTGGTGATGC 0.597 NaN 0 0 0 0.00632 0 26 35 MYSM1 114803 broad.mit.edu 37 1 59142623 59142623 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:59142623C>T uc009wab.1 - 9 1388 c.1365G>A c.(1363-1365)TTG>TTA p.L455L MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 455 SWIRM. 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) TTGCTCCTATCAATTCGAGGT 0.348 NaN 0 0 0 0.01441 0 53 110 DOCK7 85440 broad.mit.edu 37 1 63024891 63024891 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:63024891C>T uc001daq.2 - 20 2234 c.2200G>A c.(2200-2202)GAT>AAT p.D734N DOCK7_uc001dan.2_Missense_Mutation_p.D626N|DOCK7_uc001dao.2_Missense_Mutation_p.D626N|DOCK7_uc001dap.2_Missense_Mutation_p.D734N NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 734 DHR-1. 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 AGATAAGGATCCTAAAACAAA 0.363 NaN 0 0 0 0.004482 0 7 34 ANGPTL3 27329 broad.mit.edu 37 1 63066796 63066796 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:63066796C>G uc001das.1 + 3 701 c.650C>G c.(649-651)TCT>TGT p.S217C DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron NM_014495 NP_055310 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 precursor 217 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity 0 ATTTCTCTATCTTCCAAGCCA 0.343 NaN 0 0 0 0.012319 0 22 131 MIER1 57708 broad.mit.edu 37 1 67411832 67411833 + Splice_Site DNP GG GG TT TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:67411832_67411833GG>TT uc001dde.2 + 4 328 c.194_splice c.e4-1 p.G65_splice MIER1_uc001dda.3_Splice_Site_p.E90_splice|MIER1_uc010opf.1_Splice_Site_p.G29_splice|MIER1_uc009way.2_Splice_Site_p.G29_splice|MIER1_uc001ddc.2_Splice_Site_p.G65_splice|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Splice_Site_p.G29_splice|MIER1_uc001ddg.2_Splice_Site|MIER1_uc010opg.1_Splice_Site_p.G29_splice|MIER1_uc001ddj.1_Splice_Site_p.G12_splice|MIER1_uc001ddi.2_Splice_Site_p.G12_splice NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 TTCCTTACCAGGAGGTTCAGCA 0.317 NaN 0 0 0 0.004672 0 26 90 ANKRD13C 81573 broad.mit.edu 37 1 70728465 70728465 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:70728465C>T uc001dex.3 - 13 1887 c.1561G>A c.(1561-1563)GAT>AAT p.D521N ANKRD13C_uc009wbk.2_Missense_Mutation_p.D486N NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 521 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 ATGGAGCCATCAAATTCATCG 0.408 NaN 0 0 0 0.01441 0 61 138 FUBP1 8880 broad.mit.edu 37 1 78430866 78430866 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:78430866G>A uc001dii.2 - 8 612 c.523C>T c.(523-525)CCT>TCT p.P175S FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P196S NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 175 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 TGGAAGCCAGGAGCTGGTCTT 0.418 NaN 0 0 0 0.009535 0 30 141 DNASE2B 58511 broad.mit.edu 37 1 84867740 84867740 + Silent SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:84867740A>G uc001djt.1 + 2 315 c.282A>G c.(280-282)CTA>CTG p.L94L NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 94 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TACAACAGCTATATGAAGCAT 0.363 NaN Direct_reversal_of_damage 0 0 0 0.001168 0 6 28 COL24A1 255631 broad.mit.edu 37 1 86426951 86426951 + Missense_Mutation SNP A A T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:86426951A>T uc001dlj.2 - 24 2585 c.2543T>A c.(2542-2544)ATT>AAT p.I848N COL24A1_uc001dli.2_Translation_Start_Site|COL24A1_uc010osd.1_Missense_Mutation_p.I148N|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 848 Collagen-like 5. GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923). cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) AATTTTTCCAATATTTCCTTG 0.289 NaN 0 0 0 0.003163 0 15 96 ZNF644 84146 broad.mit.edu 37 1 91406420 91406420 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:91406420G>A uc001dnw.2 - 3 633 c.491C>T c.(490-492)TCT>TTT p.S164F ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.S164F NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CTGTGGTGTAGACAGCTGAAG 0.403 NaN 0 0 0 0.005443 0 29 150 MTF2 22823 broad.mit.edu 37 1 93580289 93580289 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:93580289G>C uc009wdj.2 + 4 623 c.331G>C c.(331-333)GAG>CAG p.E111Q MTF2_uc001dph.2_Missense_Mutation_p.E9Q|MTF2_uc010oth.1_Missense_Mutation_p.E9Q|MTF2_uc009wdk.2_Missense_Mutation_p.E111Q|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.E9Q|MTF2_uc001dpj.3_Missense_Mutation_p.E9Q|MTF2_uc001dpl.3_Missense_Mutation_p.E9Q NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 111 PHD-type 1. nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) ATGTCAAGAAGAGTATTCAGA 0.328 NaN 0 0 0 0.013537 0 10 55 CNN3 1266 broad.mit.edu 37 1 95363303 95363303 + Missense_Mutation SNP A A C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:95363303A>C uc010otw.1 - 8 1067 c.985T>G c.(985-987)TAT>GAT p.Y329D CNN3_uc010otv.1_Missense_Mutation_p.Y288D|CNN3_uc001dqz.3_Missense_Mutation_p.Y329D|CNN3_uc010otx.1_Missense_Mutation_p.Y283D NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 329 Asp/Glu-rich (acidic). actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) TGGATCTAATAATCAATGCCT 0.398 NaN 0 0 0 0.013726 0 33 154 CNN3 1266 broad.mit.edu 37 1 95363318 95363318 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:95363318C>T uc010otw.1 - 8 1052 c.970G>A c.(970-972)GAC>AAC p.D324N CNN3_uc010otv.1_Missense_Mutation_p.D283N|CNN3_uc001dqz.3_Missense_Mutation_p.D324N|CNN3_uc010otx.1_Missense_Mutation_p.D278N NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 324 Asp/Glu-rich (acidic). actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) ATGCCTTGGTCGCTATATTGG 0.398 NaN 0 0 0 0.006999 0 39 175 LPPR5 163404 broad.mit.edu 37 1 99387500 99387500 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:99387500G>A uc001dsb.2 - 4 958 c.736C>T c.(736-738)CGA>TGA p.R246* LPPR5_uc001dsc.2_Nonsense_Mutation_p.R246* NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 246 integral to membrane hydrolase activity 0 CAATGATTTCGATATTCTGCT 0.368 NaN 0 0 0 0.004878 0 35 116 FRRS1 391059 broad.mit.edu 37 1 100212977 100212977 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:100212977G>A uc001dsh.1 - 4 808 c.206C>T c.(205-207)TCA>TTA p.S69L NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN stromal cell derived factor receptor 2 homolog 69 Reelin. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding skin(1) 1 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) TGGATGCCCTGACAAAGTAAC 0.378 NaN 0 0 0 0.008361 0 29 115 FNDC7 163479 broad.mit.edu 37 1 109276098 109276098 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:109276098C>T uc001dvx.2 + 10 2084 c.2084C>T c.(2083-2085)TCA>TTA p.S695L FNDC7_uc010ova.1_Missense_Mutation_p.S462L NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 696 Fibronectin type-III 8. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GTGATGGTCTCACCAGTTGCT 0.423 NaN 0 0 0 0.012319 0 23 94 CSF1 1435 broad.mit.edu 37 1 110466437 110466437 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:110466437G>A uc001dyu.2 + 6 1607 c.1194G>A c.(1192-1194)CCG>CCA p.P398P CSF1_uc001dyt.2_Intron|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Silent_p.P398P NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 398 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGACCCCCCGGAGCCAGGCT 0.667 NaN 0 0 0 0.010729 0 9 44 RBM15 64783 broad.mit.edu 37 1 110884629 110884629 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:110884629G>A uc001dzl.1 + 1 2685 c.2602G>A c.(2602-2604)GAC>AAC p.D868N RBM15_uc001dzm.1_Missense_Mutation_p.D868N|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 868 SPOC. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TGGAAGTTCTGACAGCCGGTC 0.512 NaN T MKL1 acute megakaryocytic leukemia 0 0 0 0.00245 0 13 67 DENND2D 79961 broad.mit.edu 37 1 111730906 111730906 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:111730906G>A uc001eak.1 - 11 1386 c.1186C>T c.(1186-1188)CGG>TGG p.R396W DENND2D_uc001eal.1_Missense_Mutation_p.R393W NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 396 dDENN. ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTTGCCTCCCGCTTGATATAG 0.473 NaN 0 0 0 0.004656 0 26 114 WDR77 79084 broad.mit.edu 37 1 111983905 111983905 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:111983905C>T uc001ebb.2 - 10 1015 c.976G>A c.(976-978)GTT>ATT p.V326I WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.V262I NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 326 LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411). ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GTGGGCACAACGTGGTGGACG 0.537 NaN 0 0 0 0.010504 0 22 55 MOV10 4343 broad.mit.edu 37 1 113217604 113217604 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:113217604C>T uc001eck.2 + 2 340 c.70C>T c.(70-72)CGG>TGG p.R24W MOV10_uc001ecl.2_Missense_Mutation_p.R24W|MOV10_uc001ecn.2_Missense_Mutation_p.R24W|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 24 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CCTGGTCGTTCGGGGACTGGA 0.667 NaN 0 0 0 0.006214 0 8 47 MOV10 4343 broad.mit.edu 37 1 113234326 113234326 + Silent SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:113234326G>T uc001eck.2 + 6 1146 c.876G>T c.(874-876)GGG>GGT p.G292G MOV10_uc001ecl.2_Silent_p.G292G|MOV10_uc001ecn.2_Silent_p.G292G|MOV10_uc001ecm.2_Silent_p.G232G|MOV10_uc009wgj.1_Silent_p.G232G NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 292 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TGGCGCTGGGGACATACTACC 0.542 NaN 1 0 8.10497e-08 0.010504 8.35144e-08 20 79 LRIG2 9860 broad.mit.edu 37 1 113657463 113657463 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:113657463G>A uc001edf.1 + 15 2693 c.2495G>A c.(2494-2496)AGA>AAA p.R832K LRIG2_uc009wgn.1_Missense_Mutation_p.R729K NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 832 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TACCACATGAGAAGGAAAAAT 0.398 NaN 0 0 0 0.008871 0 20 96 OLFML3 56944 broad.mit.edu 37 1 114524373 114524373 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:114524373G>A uc001eer.1 + 3 1312 c.1203G>A c.(1201-1203)AAG>AAA p.K401K OLFML3_uc001ees.1_Silent_p.K381K|OLFML3_uc001eet.1_Silent_p.K257K NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 precursor 401 Olfactomedin-like. multicellular organismal development extracellular region 0 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGATGAGGAAGAAAGAGGAGG 0.458 NaN 0 0 0 0.004482 0 8 26 APH1A 51107 broad.mit.edu 37 1 150238976 150238976 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:150238976G>C uc001ety.1 - 6 1012 c.690C>G c.(688-690)ATC>ATG p.I230M APH1A_uc010pbx.1_Missense_Mutation_p.I160M|APH1A_uc001etz.1_Missense_Mutation_p.I230M|APH1A_uc001eua.1_Missense_Mutation_p.I230M|APH1A_uc010pby.1_Missense_Mutation_p.I173M|APH1A_uc001eub.1_Missense_Mutation_p.I114M|APH1A_uc010pbz.1_Missense_Mutation_p.I114M NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 230 Helical; Name=7; (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTCCAGCTGTGATGAAGGCCC 0.567 NaN 0 0 0 0.001168 0 6 37 APH1A 51107 broad.mit.edu 37 1 150240466 150240466 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:150240466C>T uc001ety.1 - 2 497 c.175G>A c.(175-177)GTG>ATG p.V59M APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Missense_Mutation_p.V59M|APH1A_uc001eua.1_Missense_Mutation_p.V59M|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Intron|APH1A_uc010pbz.1_Intron NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 59 Lumenal (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CGGTCGGTCACATGGACCAAG 0.542 NaN 0 0 0 0.00632 0 29 49 FLG 2312 broad.mit.edu 37 1 152281379 152281379 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:152281379C>G uc001ezu.1 - 3 6019 c.5983G>C c.(5983-5985)GAA>CAA p.E1995Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1995 Ser-rich.|Filaggrin 12. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGCCTGTTCATGGGATGAC 0.567 NaN Ichthyosis 0 0 0 0.01441 0 96 819 FLG2 388698 broad.mit.edu 37 1 152327225 152327225 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:152327225C>T uc001ezw.3 - 3 3110 c.3037G>A c.(3037-3039)GGT>AGT p.G1013S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1013 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGACCATAGCCAGAT 0.483 NaN 0 0 0 0.01441 0 167 367 KPRP 448834 broad.mit.edu 37 1 152732377 152732377 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:152732377T>C uc001fal.1 + 2 371 c.313T>C c.(313-315)TCC>CCC p.S105P NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 105 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATCTCAAACTTCCTCTGTTCA 0.537 NaN 0 0 0 0.01441 0 115 274 NUP210L 91181 broad.mit.edu 37 1 154000004 154000004 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:154000004G>A uc001fdw.2 - 29 3997 c.3925C>T c.(3925-3927)CAG>TAG p.Q1309* NUP210L_uc009woq.2_Nonsense_Mutation_p.Q218*|NUP210L_uc010peh.1_Nonsense_Mutation_p.Q1309* NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1309 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGTTTGAGCTGAGAATTTATA 0.368 NaN 0 0 0 0.004289 0 36 101 THBS3 7059 broad.mit.edu 37 1 155177629 155177629 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:155177629G>A uc001fix.2 - 1 62 c.39C>T c.(37-39)CTC>CTT p.L13L RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.L13L|THBS3_uc001fiz.2_Silent_p.L13L|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.L13L|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjb.2_5'Flank|MTX1_uc001fjc.2_5'Flank NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 13 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGCAAAGGAGGAGAAGAGCCA 0.607 NaN 0 0 0 0.006214 0 9 52 RIT1 6016 broad.mit.edu 37 1 155880497 155880497 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:155880497G>A uc001fmh.1 - 2 243 c.56C>T c.(55-57)TCA>TTA p.S19L RIT1_uc010pgr.1_Intron NM_006912 NP_008843 Q92963 RIT1_HUMAN Ras-like without CAAX 1 19 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) GTACTCCCGTGAGAGCCCAGC 0.527 NaN 0 0 0 0.01441 0 43 138 SEMA4A 64218 broad.mit.edu 37 1 156127890 156127890 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:156127890G>C uc001fnl.2 + 4 434 c.330G>C c.(328-330)AAG>AAC p.K110N SEMA4A_uc009wrq.2_Missense_Mutation_p.K110N|SEMA4A_uc001fnm.2_Missense_Mutation_p.K110N|SEMA4A_uc001fnn.2_Missense_Mutation_p.K11N|SEMA4A_uc001fno.2_Missense_Mutation_p.K110N NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 110 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) ACAGAAAAAAGAGTGAATGTG 0.522 NaN 0 0 0 0.010729 0 9 37 ARHGEF11 9826 broad.mit.edu 37 1 156918212 156918212 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:156918212C>T uc001fqo.2 - 22 2924 c.1884G>A c.(1882-1884)GAG>GAA p.E628E ARHGEF11_uc010phu.1_Silent_p.E44E|ARHGEF11_uc001fqn.2_Silent_p.E668E|ARHGEF11_uc001fqp.1_Silent_p.E147E NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 628 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGGCACGTTCTCTGCCTTTC 0.602 NaN 0 0 0 0.006122 0 16 75 SPTA1 6708 broad.mit.edu 37 1 158641938 158641938 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:158641938C>T uc001fst.1 - 11 1598 c.1399G>A c.(1399-1401)GAG>AAG p.E467K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 467 Spectrin 5. 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) CGATGACGCTCGTCCCACAGT 0.423 NaN 0 0 0 0.00245 0 14 64 OR6N2 81442 broad.mit.edu 37 1 158747226 158747226 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:158747226G>A uc010pir.1 - 1 200 c.200C>T c.(199-201)TCC>TTC p.S67F NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) CTCCAAGAAGGAAAGAACACT 0.443 NaN 0 0 0 0.005443 0 28 211 POGK 57645 broad.mit.edu 37 1 166818747 166818747 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:166818747C>G uc001gdt.1 + 5 1051 c.931C>G c.(931-933)CGA>GGA p.R311G POGK_uc010ple.1_Missense_Mutation_p.R226G|POGK_uc010plf.1_Missense_Mutation_p.R193G NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 311 HTH CENPB-type. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GGGTTGGTGTCGAAGAATGAT 0.547 NaN 0 0 0 0.003163 0 14 95 ADCY10 55811 broad.mit.edu 37 1 167852770 167852770 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:167852770C>G uc001ger.2 - 9 1223 c.925G>C c.(925-927)GAG>CAG p.E309Q ADCY10_uc009wvk.2_Missense_Mutation_p.E217Q|ADCY10_uc010plj.1_Missense_Mutation_p.E156Q|ADCY10_uc009wvl.2_Missense_Mutation_p.E308Q|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 309 Guanylate cyclase 2. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 GGGCCTATCTCTTCTGCTTTG 0.438 NaN 0 0 0 0.01441 0 54 207 F5 2153 broad.mit.edu 37 1 169494148 169494148 + Splice_Site SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:169494148T>C uc001ggg.1 - 19 5862 c.5717_splice c.e19-1 p.D1906_splice NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCCTACAGTCTATGAAAAACA 0.328 NaN 0 0 0 0.00623 0 40 91 ZBTB37 84614 broad.mit.edu 37 1 173839578 173839578 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:173839578C>T uc009wwp.1 + 3 491 c.215C>T c.(214-216)TCA>TTA p.S72L GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.S72L|ZBTB37_uc001gjq.3_Missense_Mutation_p.S72L|ZBTB37_uc001gjr.2_Missense_Mutation_p.S72L NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 72 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTCCATTTCAGTCATCAAG 0.483 NaN 0 0 0 0.00623 0 42 80 DHX9 1660 broad.mit.edu 37 1 182822501 182822501 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:182822501G>A uc001gpr.2 + 5 588 c.425G>A c.(424-426)GGA>GAA p.G142E DHX9_uc001gps.2_5'UTR NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 142 Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TGGGACCGAGGAGCCAACTTG 0.448 NaN 0 0 0 0.01441 0 48 142 SMG7 9887 broad.mit.edu 37 1 183518386 183518386 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:183518386C>T uc001gqg.2 + 18 2908 c.2786C>T c.(2785-2787)TCC>TTC p.S929F SMG7_uc001gqf.2_Missense_Mutation_p.S933F|SMG7_uc001gqh.2_Missense_Mutation_p.S883F|SMG7_uc001gqi.2_Missense_Mutation_p.S841F|SMG7_uc010poc.1_Missense_Mutation_p.S937F NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 929 Ser-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCACATTCATCCTCTTTCCTG 0.388 NaN 0 0 0 0.005524 0 35 78 HMCN1 83872 broad.mit.edu 37 1 186044020 186044020 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:186044020C>G uc001grq.1 + 53 8516 c.8287C>G c.(8287-8289)CAA>GAA p.Q2763E NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2763 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGTGAATATTCAAGGTAATAC 0.284 NaN 0 0 0 0.014323 0 20 91 ASPM 259266 broad.mit.edu 37 1 197070599 197070599 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:197070599C>T uc001gtu.2 - 18 8039 c.7782G>A c.(7780-7782)CAG>CAA p.Q2594Q ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.Q442Q NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2594 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GAAATACTTTCTGTTTCTTTT 0.353 NaN 0 0 0 0.00499 0 18 86 KDM5B 10765 broad.mit.edu 37 1 202718108 202718108 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:202718108C>T uc001gyf.2 - 14 2097 c.1981G>A c.(1981-1983)GAT>AAT p.D661N KDM5B_uc009xag.2_Missense_Mutation_p.D697N|KDM5B_uc001gyg.1_Missense_Mutation_p.D503N NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 661 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GCTTTCTCATCCTCAATCATA 0.388 NaN 0 0 0 0.011902 0 46 153 CYB5R1 51706 broad.mit.edu 37 1 202935922 202935922 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:202935922G>C uc001gyt.2 - 2 191 c.120C>G c.(118-120)CTC>CTG p.L40L CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 40 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) TGGGGTCCAGGAGAGTGACCT 0.632 NaN 0 0 0 0.001168 0 5 54 LAX1 54900 broad.mit.edu 37 1 203743331 203743331 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:203743331A>G uc001haa.2 + 5 1129 c.719A>G c.(718-720)GAC>GGC p.D240G LAX1_uc010pql.1_Missense_Mutation_p.D224G|LAX1_uc001hab.2_Missense_Mutation_p.D164G NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 240 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GATGCTGGTGACTGCACCAGT 0.473 NaN 0 0 0 0.004656 0 24 44 REN 5972 broad.mit.edu 37 1 204129688 204129688 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:204129688G>C uc001haq.2 - 4 536 c.492C>G c.(490-492)ACC>ACG p.T164T NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 164 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CCCAACTTACGGTGATGATGT 0.597 NaN 0 0 0 0.001855 0 14 41 PFKFB2 5208 broad.mit.edu 37 1 207228122 207228122 + Silent SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:207228122T>C uc001hfg.2 + 2 169 c.60T>C c.(58-60)AAT>AAC p.N20N PFKFB2_uc010psc.1_5'UTR|YOD1_uc001hff.1_5'Flank|PFKFB2_uc001hfh.2_Silent_p.N20N|PFKFB2_uc009xcc.2_5'UTR NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 20 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) AAACCCCAAATCTTCGAATGT 0.428 NaN 0 0 0 0.00308 0 7 30 CD55 1604 broad.mit.edu 37 1 207495889 207495889 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:207495889C>T uc001hfq.3 + 2 557 c.263C>T c.(262-264)TCA>TTA p.S88L CD55_uc001hfp.3_Missense_Mutation_p.S88L|CD55_uc001hfr.3_Missense_Mutation_p.S88L|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.S88L|CD55_uc009xce.2_Missense_Mutation_p.S88L NM_000574 NP_000565 P08174 DAF_HUMAN decay accelerating factor for complement isoform 88 Sushi 1. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity ovary(1) 1 Chloramphenicol(DB00446) AGTCAATGGTCAGATATTGAA 0.363 NaN 0 0 0 0.004878 0 35 79 C1orf107 27042 broad.mit.edu 37 1 210010531 210010531 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:210010531G>A uc001hhr.1 + 6 1113 c.1037G>A c.(1036-1038)AGA>AAA p.R346K C1orf107_uc009xcu.1_Missense_Mutation_p.R61K NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 346 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GATGACTTCAGAGACCAAGGG 0.522 NaN 0 0 0 0.009096 0 4 36 LPGAT1 9926 broad.mit.edu 37 1 211966441 211966441 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:211966441C>T uc001hiu.2 - 3 1143 c.330G>A c.(328-330)CTG>CTA p.L110L LPGAT1_uc001hiv.2_Silent_p.L110L NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 110 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) GGCACATCATCAGTGTGCACA 0.403 NaN 0 0 0 0.01441 0 123 283 FLVCR1 28982 broad.mit.edu 37 1 213032136 213032136 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:213032136C>T uc001hjt.2 + 1 540 c.342C>T c.(340-342)TTC>TTT p.F114F LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank NM_014053 NP_054772 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular 114 Helical; (Potential). cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) TCCTGATCTTCAGCCTGTACT 0.637 NaN 0 0 0 0.012319 0 22 44 RPS6KC1 26750 broad.mit.edu 37 1 213415370 213415370 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:213415370G>A uc010ptr.1 + 11 2710 c.2551G>A c.(2551-2553)GAT>AAT p.D851N RPS6KC1_uc001hkd.2_Missense_Mutation_p.D839N|RPS6KC1_uc010pts.1_Missense_Mutation_p.D639N|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D639N|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D670N|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D386N|RPS6KC1_uc001hke.2_Missense_Mutation_p.D670N NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 851 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGATCAGACTGATGATTTGGC 0.383 NaN 0 0 0 0.01441 0 64 173 TAF1A 9015 broad.mit.edu 37 1 222743964 222743964 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:222743964G>A uc009xdz.1 - 6 837 c.648C>T c.(646-648)TTC>TTT p.F216F TAF1A_uc001hni.1_Silent_p.F102F|TAF1A_uc001hnj.2_Silent_p.F216F|TAF1A_uc001hnk.2_Silent_p.F102F|TAF1A_uc010pur.1_Silent_p.F216F NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 216 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) AGCTGTGGTTGAACACATCCT 0.363 NaN 0 0 0 0.01441 0 85 166 OBSCN 84033 broad.mit.edu 37 1 228434453 228434453 + Missense_Mutation SNP T T A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:228434453T>A uc009xez.1 + 13 4026 c.3982T>A c.(3982-3984)TAC>AAC p.Y1328N OBSCN_uc001hsn.2_Missense_Mutation_p.Y1328N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1328 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGCTGGGGAGTACACCTGTGA 0.597 NaN 0 0 0 0.003755 0 31 68 URB2 9816 broad.mit.edu 37 1 229771854 229771854 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:229771854C>T uc001hts.1 + 4 1630 c.1494C>T c.(1492-1494)CTC>CTT p.L498L URB2_uc009xfd.1_Silent_p.L498L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 498 nucleolus central_nervous_system(2)|ovary(1) 3 CCACGGTACTCTCTGCATGCC 0.577 NaN 0 0 0 0.01441 0 62 127 URB2 9816 broad.mit.edu 37 1 229772944 229772944 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:229772944G>A uc001hts.1 + 4 2720 c.2584G>A c.(2584-2586)GAA>AAA p.E862K URB2_uc009xfd.1_Missense_Mutation_p.E862K NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 862 nucleolus central_nervous_system(2)|ovary(1) 3 AGCTGGACCCGAAGGTATAGA 0.498 NaN 0 0 0 0.010504 0 21 144 URB2 9816 broad.mit.edu 37 1 229773668 229773668 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:229773668C>T uc001hts.1 + 4 3444 c.3308C>T c.(3307-3309)TCA>TTA p.S1103L URB2_uc009xfd.1_Missense_Mutation_p.S1103L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1103 nucleolus central_nervous_system(2)|ovary(1) 3 CAGCTCTGCTCAGTGCCGGGG 0.647 NaN 0 0 0 0.010504 0 17 69 COG2 22796 broad.mit.edu 37 1 230819378 230819378 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:230819378C>T uc001htw.2 + 11 1376 c.1225C>T c.(1225-1227)CCA>TCA p.P409S COG2_uc001htx.2_Missense_Mutation_p.P409S|COG2_uc010pwc.1_Missense_Mutation_p.P282S NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 409 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GGAAGATGCCCCAGGTAACTC 0.393 NaN 0 0 0 0.013114 0 42 91 FMN2 56776 broad.mit.edu 37 1 240341299 240341299 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:240341299C>T uc010pyd.1 + 3 2086 c.1861C>T c.(1861-1863)CGA>TGA p.R621* FMN2_uc010pye.1_Nonsense_Mutation_p.R621* NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 621 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTTTCCTAGGCGAGTTCCATC 0.448 NaN 0 0 0 0.007291 0 25 67 EXO1 9156 broad.mit.edu 37 1 242048771 242048771 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:242048771C>G uc001hzh.2 + 15 2907 c.2367C>G c.(2365-2367)ATC>ATG p.I789M EXO1_uc001hzi.2_Missense_Mutation_p.I789M|EXO1_uc001hzj.2_Missense_Mutation_p.I789M|EXO1_uc009xgq.2_Missense_Mutation_p.I788M NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 789 Interaction with MLH1.|Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GGTTACAGATCAAACTCAATG 0.428 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.00278 0 20 89 ADSS 159 broad.mit.edu 37 1 244614999 244614999 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:244614999C>T uc001iaj.2 - 1 415 c.121G>A c.(121-123)GAA>AAA p.E41K C1orf101_uc001iak.1_5'Flank|ADSS_uc009xgr.1_RNA NM_001126 NP_001117 P30520 PURA2_HUMAN adenylosuccinate synthase 41 IMP binding (By similarity).|GTP. AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(2)|kidney(1) 3 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CCTTTGCCTTCGTCGCCCCAC 0.736 NaN 0 0 0 0.000602 0 4 9 OR2G2 81470 broad.mit.edu 37 1 247752506 247752506 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:247752506C>T uc010pyy.1 + 1 845 c.845C>T c.(844-846)ACT>ATT p.T282I NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCTTCTACACTGTGGTAACC 0.348 NaN 0 0 0 0.01441 0 125 201 SLC39A12 221074 broad.mit.edu 37 10 18331702 18331702 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:18331702G>C uc001ipo.2 + 13 2289 c.2016G>C c.(2014-2016)TTG>TTC p.L672F SLC39A12_uc001ipn.2_Missense_Mutation_p.L635F|SLC39A12_uc001ipp.2_Missense_Mutation_p.L671F|SLC39A12_uc010qck.1_Missense_Mutation_p.L538F NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 672 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 ACTTTGGATTGATCCTAGGTT 0.338 NaN 0 0 0 0.003755 0 35 186 CUL2 8453 broad.mit.edu 37 10 35317794 35317794 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:35317794G>A uc001ixv.2 - 16 1771 c.1561C>T c.(1561-1563)CAG>TAG p.Q521* CUL2_uc009xma.2_Nonsense_Mutation_p.Q390*|CUL2_uc010qer.1_Nonsense_Mutation_p.Q540*|CUL2_uc001ixw.2_Nonsense_Mutation_p.Q521*|CUL2_uc010qes.1_Nonsense_Mutation_p.Q458* NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 521 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 GAAGGAGCCTGAGTAAGAGGC 0.308 NaN 0 0 0 0.008871 0 19 35 FZD8 8325 broad.mit.edu 37 10 35929518 35929518 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:35929518C>G uc001iyz.1 - 1 845 c.840G>C c.(838-840)TGG>TGC p.W280C NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 280 Helical; Name=1; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 ACAGGCCGATCCAGAAGACGG 0.612 NaN 0 0 0 0.004672 0 3 45 HNRNPF 3185 broad.mit.edu 37 10 43883236 43883236 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:43883236C>T uc009xmh.1 - 3 584 c.97G>A c.(97-99)GAC>AAC p.D33N HNRNPF_uc001jar.2_Missense_Mutation_p.D33N|HNRNPF_uc001jas.2_Missense_Mutation_p.D33N|HNRNPF_uc001jat.2_Missense_Mutation_p.D33N|HNRNPF_uc001jav.2_Missense_Mutation_p.D33N|HNRNPF_uc001jau.2_Missense_Mutation_p.D33N NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 33 RRM 1. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 ATCGTGCAGTCAGAGAGGAAG 0.552 NaN 0 0 0 0.007413 0 20 79 ZNF239 8187 broad.mit.edu 37 10 44052855 44052855 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:44052855G>A uc001jaw.3 - 2 1326 c.673C>T c.(673-675)CAT>TAT p.H225Y ZNF239_uc001jax.3_Missense_Mutation_p.H225Y|ZNF239_uc009xmj.2_Missense_Mutation_p.H225Y|ZNF239_uc009xmk.2_Missense_Mutation_p.H225Y NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 225 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 TCTCTCTGATGAAGTAGTAGC 0.458 NaN 0 0 0 0.005443 0 28 223 FRMPD2 143162 broad.mit.edu 37 10 49450206 49450206 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:49450206C>T uc001jgi.2 - 5 672 c.565G>A c.(565-567)GAG>AAG p.E189K FRMPD2_uc001jgh.2_Missense_Mutation_p.E158K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E167K NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 189 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CTACTGACCTCAGAAATGGTA 0.299 NaN 0 0 0 0.008871 0 19 139 BICC1 80114 broad.mit.edu 37 10 60273078 60273078 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:60273078G>A uc001jki.1 + 1 175 c.175G>A c.(175-177)GAG>AAG p.E59K NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 59 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GAAGAAACTTGAGGCCATGTT 0.657 NaN 0 0 0 0.012319 0 20 34 HK1 3098 broad.mit.edu 37 10 71144211 71144211 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:71144211G>A uc001jpl.3 + 11 1794 c.1693G>A c.(1693-1695)GAA>AAA p.E565K HK1_uc001jpg.3_Missense_Mutation_p.E553K|HK1_uc001jph.3_Missense_Mutation_p.E569K|HK1_uc001jpi.3_Missense_Mutation_p.E569K|HK1_uc001jpj.3_Missense_Mutation_p.E600K|HK1_uc001jpk.3_Missense_Mutation_p.E564K|HK1_uc009xqd.2_Missense_Mutation_p.E443K NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 565 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 CATTCCTATTGAAATCATGCA 0.498 NaN 0 0 0 0.013726 0 34 91 PRF1 5551 broad.mit.edu 37 10 72358051 72358051 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:72358051C>T uc009xqg.2 - 3 1587 c.1426G>A c.(1426-1428)GGG>AGG p.G476R PRF1_uc001jrf.3_Missense_Mutation_p.G476R NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 476 C2. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CTCAGGGGCCCCCCTGTGGCC 0.607 NaN M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.008361 0 29 82 CAMK2G 818 broad.mit.edu 37 10 75609037 75609037 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:75609037G>A uc001jvv.1 - 6 496 c.372C>T c.(370-372)ATC>ATT p.I124I CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 132 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) CCCTGTGGACGATGTCATGCT 0.522 NaN OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 6 23 BTAF1 9044 broad.mit.edu 37 10 93719635 93719635 + Missense_Mutation SNP G G A rs112687582 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:93719635G>A uc001khr.2 + 10 1182 c.1084G>A c.(1084-1086)GAA>AAA p.E362K BTAF1_uc009xua.1_RNA|BTAF1_uc001khs.1_Missense_Mutation_p.E32K NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 362 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TGTTTCTGATGAAGTAAGTAT 0.348 NaN 0 0 0 0.007835 0 41 80 IDE 3416 broad.mit.edu 37 10 94267358 94267358 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:94267358G>C uc001kia.2 - 9 1295 c.1219C>G c.(1219-1221)CAA>GAA p.Q407E NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 407 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCCATTCTTGAGGTCCTTCT 0.328 NaN 0 0 0 0.013726 0 33 172 EXOC6 54536 broad.mit.edu 37 10 94757311 94757311 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:94757311G>C uc001kig.2 + 19 2100 c.2034G>C c.(2032-2034)GAG>GAC p.E678D EXOC6_uc010qnr.1_Missense_Mutation_p.E694D|EXOC6_uc001kie.2_Missense_Mutation_p.E673D|EXOC6_uc009xub.2_Missense_Mutation_p.E677D|EXOC6_uc009xuc.2_Missense_Mutation_p.E575D|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.E252D NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 678 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) TGGACAGTGAGTTAAAACAAA 0.368 NaN 0 0 0 0.006214 0 10 81 ALDH18A1 5832 broad.mit.edu 37 10 97376261 97376261 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:97376261G>A uc001kkz.2 - 13 1820 c.1578C>T c.(1576-1578)ATC>ATT p.I526I ALDH18A1_uc001kky.2_Silent_p.I524I|ALDH18A1_uc010qog.1_Silent_p.I415I|ALDH18A1_uc010qoh.1_Silent_p.I314I NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 526 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TGACTCCATGGATTGAGAGAG 0.547 NaN 0 0 0 0.009096 0 4 3 DNTT 1791 broad.mit.edu 37 10 98078150 98078150 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:98078150C>T uc001kmf.2 + 2 415 c.245C>T c.(244-246)TCG>TTG p.S82L DNTT_uc001kmg.2_Missense_Mutation_p.S82L NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 82 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AACTCGGGTTCGGATGTTCTG 0.473 NaN 0 0 0 0.010771 0 42 251 ARHGAP19 84986 broad.mit.edu 37 10 99023225 99023225 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:99023225C>T uc001knb.2 - 4 594 c.565G>A c.(565-567)GAG>AAG p.E189K ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.E180K|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.E189K|ARHGAP19_uc009xvk.2_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 189 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) AGCAGAGGCTCCGGCAACTCT 0.403 NaN 0 0 0 0.01441 0 58 169 ENTPD7 57089 broad.mit.edu 37 10 101445633 101445633 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:101445633G>A uc001kqa.3 + 6 811 c.633G>A c.(631-633)GTG>GTA p.V211V ENTPD7_uc009xwl.2_Silent_p.V213V NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 211 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) AAGCAGAAGTGATCTCTGGGA 0.468 NaN 0 0 0 0.00623 0 39 57 PDZD7 79955 broad.mit.edu 37 10 102777862 102777862 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:102777862C>T uc001kso.1 - 9 1731 c.1516G>A c.(1516-1518)GAG>AAG p.E506K PDZD7_uc001ksn.2_Missense_Mutation_p.E506K NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 506 cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TTACCTTTCTCTATGTCCAGG 0.418 NaN 0 0 0 0.010729 0 9 88 FGF8 2253 broad.mit.edu 37 10 103531247 103531247 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:103531247C>T uc001ktp.1 - 5 554 c.384G>A c.(382-384)ATG>ATA p.M128I FGF8_uc001ktq.1_Missense_Mutation_p.M139I|FGF8_uc001ktr.1_Missense_Mutation_p.M110I|FGF8_uc001kts.1_Missense_Mutation_p.M99I|FGF8_uc009xwr.1_Missense_Mutation_p.M35I NM_033164 NP_149354 P55075 FGF8_HUMAN fibroblast growth factor 8 isoform E precursor 128 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CCTTCTTGTTCATGCAGATGT 0.607 NaN 0 0 0 0.00499 0 16 30 PPRC1 23082 broad.mit.edu 37 10 103900177 103900177 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:103900177G>A uc001kum.2 + 5 1951 c.1912G>A c.(1912-1914)GAC>AAC p.D638N PPRC1_uc001kun.2_Missense_Mutation_p.D518N|PPRC1_uc010qqj.1_Missense_Mutation_p.D638N|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGTCCTGGCTGACTCAGCAGC 0.562 NaN 0 0 0 0.006122 0 18 69 PPRC1 23082 broad.mit.edu 37 10 103900464 103900464 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:103900464G>A uc001kum.2 + 5 2238 c.2199G>A c.(2197-2199)CTG>CTA p.L733L PPRC1_uc001kun.2_Silent_p.L613L|PPRC1_uc010qqj.1_Silent_p.L733L|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 733 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGGATTCTCTGAAAATTGAAA 0.547 NaN 0 0 0 0.008361 0 28 84 PPRC1 23082 broad.mit.edu 37 10 103901412 103901412 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:103901412G>A uc001kum.2 + 5 3186 c.3147G>A c.(3145-3147)CAG>CAA p.Q1049Q PPRC1_uc001kun.2_Silent_p.Q929Q|PPRC1_uc010qqj.1_Silent_p.Q1049Q|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1049 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GAGCTCCTCAGACAGAGCCTA 0.582 NaN 0 0 0 0.009096 0 4 26 LOC729020 729020 broad.mit.edu 37 10 105006301 105006301 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:105006301T>C uc009xxi.2 + 1 658 c.548T>C c.(547-549)GTC>GCC p.V183A uc001kwr.2_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN rcRPE protein 183 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity 0 TCTGACACTGTCCATAAGTGT 0.448 NaN 0 0 0 0.010504 0 22 51 C10orf79 80217 broad.mit.edu 37 10 105990389 105990389 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:105990389A>G uc001kxw.2 - 2 394 c.278T>C c.(277-279)GTA>GCA p.V93A C10orf79_uc001kxx.3_Missense_Mutation_p.V93A|C10orf79_uc001kxy.1_Missense_Mutation_p.V93A|C10orf79_uc001kxz.2_Missense_Mutation_p.V93A NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 93 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) AAAGCTGTATACGTAGATGAG 0.428 NaN 0 0 0 0.01441 0 51 103 ADRA2A 150 broad.mit.edu 37 10 112839122 112839122 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:112839122C>T uc001kzo.2 + 1 2333 c.1368C>T c.(1366-1368)CTC>CTT p.L456L NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 441 Cytoplasmic (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) AGAAGATCCTCTGTCGGGGGG 0.592 NaN 0 0 0 0.004007 0 14 77 TACC2 10579 broad.mit.edu 37 10 123844346 123844346 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:123844346G>A uc001lfv.2 + 4 2691 c.2331G>A c.(2329-2331)GGG>GGA p.G777G TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.G777G|TACC2_uc010qtv.1_Silent_p.G777G NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 777 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TTCATGCTGGGGTGCCACATC 0.632 NaN 0 0 0 0.009718 0 40 64 DOCK1 1793 broad.mit.edu 37 10 129245729 129245729 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:129245729G>A uc001ljt.2 + 51 5486 c.5422G>A c.(5422-5424)GTG>ATG p.V1808M DOCK1_uc010qun.1_Missense_Mutation_p.V1829M|DOCK1_uc009yaq.2_Missense_Mutation_p.R807H|DOCK1_uc001ljw.1_5'Flank NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1808 Interaction with NCK2 second and third SH3 domain (minor). apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CAAAGGCAGCGTGGCAGATTA 0.572 NaN 0 0 0 0.00308 0 7 15 MKI67 4288 broad.mit.edu 37 10 129913744 129913744 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:129913744C>T uc001lke.2 - 7 1123 c.928G>A c.(928-930)GAA>AAA p.E310K MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 310 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGCTCTTGTTCAGGTGAAGCA 0.572 NaN 0 0 0 0.014323 0 22 110 PWWP2B 170394 broad.mit.edu 37 10 134219559 134219559 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:134219559G>A uc001lll.3 + 2 1584 c.1555G>A c.(1555-1557)GGA>AGA p.G519R PWWP2B_uc009ybe.2_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 519 PWWP. 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GAAGGAGGACGGAGAGCCGTC 0.537 NaN 0 0 0 0.004007 0 16 84 MTG1 92170 broad.mit.edu 37 10 135213089 135213089 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr10:135213089C>T uc001lnd.2 + 6 581 c.477C>T c.(475-477)CTC>CTT p.L159L MTG1_uc010qve.1_Intron NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 159 G. mitochondrion GTP binding|protein binding skin(1) 1 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) AGTCCTCCCTCATCAACTCCC 0.622 NaN 0 0 0 0.005443 0 27 55 MUC6 4588 broad.mit.edu 37 11 1025893 1025893 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:1025893G>C uc001lsw.2 - 22 2762 c.2711C>G c.(2710-2712)TCA>TGA p.S904* NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 904 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGGCTGTGAGTCGTTGAC 0.652 NaN 0 0 0 0.001168 0 6 17 OR51A7 119687 broad.mit.edu 37 11 4928820 4928821 + Missense_Mutation DNP CC CC TT TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:4928820_4928821CC>TT uc010qyq.1 + 1 221_222 c.221_222CC>TT c.(220-222)TCC>TTT p.S74F NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGGCCTGTCCCTCTCCTCCC 0.46 NaN 0 0 0 0.004672 0 7 176 OR51Q1 390061 broad.mit.edu 37 11 5444186 5444186 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:5444186C>G uc010qzd.1 + 1 756 c.756C>G c.(754-756)GTC>GTG p.V252V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTCCTGGTCCTCTACATTC 0.502 NaN 0 0 0 0.006122 0 16 110 SMPD1 6609 broad.mit.edu 37 11 6412757 6412757 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:6412757C>G uc001mcw.2 + 2 636 c.462C>G c.(460-462)AGC>AGG p.S154R SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.S154R|SMPD1_uc009yew.2_Missense_Mutation_p.S153R NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 152 Saposin B-type. cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CAGTGCTGAGCCCATCTGAGG 0.572 NaN 0 0 0 0.004007 0 16 23 APBB1 322 broad.mit.edu 37 11 6432430 6432430 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:6432430G>C uc001mdb.1 - 2 248 c.148C>G c.(148-150)CTG>GTG p.L50V APBB1_uc001mdc.1_Missense_Mutation_p.L50V|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 50 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCGCTGCGCAGGTCCTTGGGT 0.697 NaN 0 0 0 0.006122 0 18 114 OR10A2 341276 broad.mit.edu 37 11 6891489 6891489 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:6891489C>A uc001meu.1 + 1 504 c.504C>A c.(502-504)AGC>AGA p.S168R NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCTGTGACAGCCCACCTGTGC 0.532 NaN 1 0 1.10923e-09 0.00278 1.14699e-09 19 185 SBF2 81846 broad.mit.edu 37 11 9806738 9806738 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:9806738G>A uc001mib.2 - 37 5303 c.5165C>T c.(5164-5166)TCC>TTC p.S1722F uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.S366F|SBF2_uc001mic.2_Missense_Mutation_p.S12F|uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1722 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CACTCCATTGGATGGGGAGAT 0.507 NaN 0 0 0 0.013537 0 13 66 MICAL2 9645 broad.mit.edu 37 11 12278388 12278388 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:12278388C>G uc001mjz.2 + 24 3300 c.3012C>G c.(3010-3012)TTC>TTG p.F1004L MICAL2_uc010rch.1_Missense_Mutation_p.F814L|MICAL2_uc001mka.2_Missense_Mutation_p.F1004L|MICAL2_uc010rci.1_Missense_Mutation_p.F983L|MICAL2_uc001mkb.2_Missense_Mutation_p.F778L|MICAL2_uc001mkc.2_Missense_Mutation_p.F757L|MICAL2_uc001mkd.2_Missense_Mutation_p.F586L|MICAL2_uc010rcj.1_Missense_Mutation_p.F216L|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 1004 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) CGTGTTACTTCTGTAAGAAAC 0.557 NaN 0 0 0 0.006214 0 10 49 PRRG4 79056 broad.mit.edu 37 11 32858272 32858272 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:32858272G>C uc001mtx.2 + 3 425 c.172G>C c.(172-174)GAG>CAG p.E58Q NM_024081 NP_076986 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 58 Extracellular (Potential).|Gla. extracellular region|Golgi apparatus|integral to membrane calcium ion binding 0 Breast(20;0.206) ATTTGATCTGGAGCTCTTCAC 0.348 NaN 0 0 0 0.00245 0 15 67 TRIM44 54765 broad.mit.edu 37 11 35684687 35684687 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:35684687G>A uc001mwi.2 + 1 335 c.28G>A c.(28-30)GAG>AAG p.E10K NM_017583 NP_060053 Q96DX7 TRI44_HUMAN DIPB protein 10 intracellular protein binding|zinc ion binding skin(1) 1 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) CGCGGCCTTCGAGGAACTGCC 0.716 NaN 0 0 0 0.00308 0 6 19 LRRC4C 57689 broad.mit.edu 37 11 40137629 40137629 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:40137629C>T uc001mxa.1 - 2 2178 c.214G>A c.(214-216)GAT>AAT p.D72N LRRC4C_uc001mxc.1_Missense_Mutation_p.D68N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D68N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D68N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 72 LRRNT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GAGATGCCATCCGGAACCTCA 0.527 NaN 0 0 0 0.003954 0 24 46 OR4A47 403253 broad.mit.edu 37 11 48510885 48510885 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:48510885C>G uc010rhx.1 + 1 541 c.541C>G c.(541-543)CCC>GCC p.P181A NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181L(1) ovary(1)|skin(1) 2 TGACATGTATCCCTTATTGAA 0.443 NaN 0 0 0 0.00245 0 15 280 TMX2 51075 broad.mit.edu 37 11 57506699 57506699 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:57506699G>C uc001nlc.1 + 7 760 c.711G>C c.(709-711)AAG>AAC p.K237N CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Missense_Mutation_p.K143N|TMX2_uc001nle.1_Missense_Mutation_p.K199N|C11orf31_uc010rjx.1_5'Flank NM_015959 NP_057043 Q9Y320 TMX2_HUMAN thioredoxin domain containing 14 isoform 1 237 Cytoplasmic (Potential).|Thioredoxin. cell redox homeostasis integral to membrane 0 AGATTGACAAGAAAGGACGGG 0.453 NaN 0 0 0 0.00499 0 16 110 OR6Q1 219952 broad.mit.edu 37 11 57798494 57798494 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:57798494G>A uc010rjz.1 + 1 70 c.70G>A c.(70-72)GAA>AAA p.E24K OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TGGCATCCATGAAGCACACCT 0.468 NaN 0 0 0 0.01441 0 111 305 LPXN 9404 broad.mit.edu 37 11 58322349 58322349 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:58322349C>T uc001nmw.2 - 4 428 c.283G>A c.(283-285)GAG>AAG p.E95K LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E100K|LPXN_uc010rkk.1_Missense_Mutation_p.E75K NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 95 LD motif 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCCATGAGCTCATCCAACTGA 0.498 NaN 0 0 0 0.000602 0 4 61 GLYAT 10249 broad.mit.edu 37 11 58478139 58478139 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:58478139C>T uc001nnb.2 - 5 567 c.412G>A c.(412-414)GAA>AAA p.E138K GLYAT_uc001nnc.2_Missense_Mutation_p.E138K NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 138 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TTGGCTGTTTCAGCTGCCATA 0.423 NaN 0 0 0 0.013114 0 39 199 MPEG1 219972 broad.mit.edu 37 11 58978821 58978821 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:58978821G>C uc001nnu.3 - 1 1674 c.1518C>G c.(1516-1518)CTC>CTG p.L506L NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 506 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GGTTTTCAAAGAGTCTCAGTG 0.512 NaN 0 0 0 0.008871 0 19 97 OSBP 5007 broad.mit.edu 37 11 59349008 59349008 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:59349008G>A uc001noc.1 - 10 2178 c.1698C>T c.(1696-1698)TTC>TTT p.F566F OSBP_uc009ymr.1_RNA NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 566 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CAGTTGCATGGAAAATACAAT 0.413 NaN 0 0 0 0.008871 0 21 149 MS4A1 931 broad.mit.edu 37 11 60229875 60229875 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:60229875G>A uc001npp.2 + 3 444 c.28G>A c.(28-30)GGG>AGG p.G10R MS4A1_uc009ymy.1_Missense_Mutation_p.G10R|MS4A1_uc001npq.2_Missense_Mutation_p.G10R|MS4A1_uc009yna.2_Missense_Mutation_p.G10R|MS4A1_uc009ymz.2_Missense_Mutation_p.G10R|MS4A1_uc010rlc.1_Missense_Mutation_p.G10R NM_152866 NP_690605 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 10 Cytoplasmic (Potential). B cell activation|immune response integral to plasma membrane ovary(3)|lung(2) 5 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TTCAGTAAATGGGACTTTCCC 0.433 NaN 0 0 0 0.00623 0 36 85 EEF1G 1937 broad.mit.edu 37 11 62334336 62334336 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:62334336C>T uc001ntm.1 - 7 945 c.799G>A c.(799-801)GAG>AAG p.E267K EEF1G_uc010rlw.1_Missense_Mutation_p.E317K|EEF1G_uc001ntn.1_Missense_Mutation_p.E147K NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 267 response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 AGCGCCTGCTCACATTCATCC 0.602 NaN 0 0 0 0.010818 0 31 53 HRASLS5 117245 broad.mit.edu 37 11 63235859 63235859 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:63235859C>A uc001nwy.2 - 4 628 c.454G>T c.(454-456)GAT>TAT p.D152Y HRASLS5_uc001nwz.2_Missense_Mutation_p.D142Y|HRASLS5_uc010rmq.1_Missense_Mutation_p.D152Y|HRASLS5_uc009yos.2_Intron NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 152 ovary(1) 1 ACGCAATCATCTTCTACATAG 0.388 NaN 1 0 1.13719e-10 0.008361 1.18005e-10 29 192 ATG2A 23130 broad.mit.edu 37 11 64668054 64668054 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:64668054G>C uc001obx.2 - 31 4491 c.4376C>G c.(4375-4377)TCT>TGT p.S1459C ATG2A_uc001obw.2_Missense_Mutation_p.S224C NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1459 protein binding ovary(1)|central_nervous_system(1) 2 GTTGGGGCCAGAGCAGCGGGA 0.667 NaN 0 0 0 0.008291 0 10 45 RELA 5970 broad.mit.edu 37 11 65421919 65421919 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:65421919G>A uc001ofg.2 - 11 1726 c.1586C>T c.(1585-1587)TCA>TTA p.S529L RELA_uc001ofh.2_Missense_Mutation_p.S526L|RELA_uc010ron.1_Missense_Mutation_p.S540L|RELA_uc009yqr.2_Missense_Mutation_p.S476L|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Missense_Mutation_p.S426L NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 529 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 TTCATCTCCTGAAAGGAGGCC 0.632 NaN 0 0 0 0.014323 0 23 56 SF3B2 10992 broad.mit.edu 37 11 65824745 65824745 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:65824745C>G uc001ogy.1 + 7 716 c.676C>G c.(676-678)CCA>GCA p.P226A NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 226 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 AGTAGCTGCTCCAGTGGGCCC 0.542 NaN 0 0 0 0.011902 0 37 214 RBM4 5936 broad.mit.edu 37 11 66410998 66410998 + Silent SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:66410998C>A uc009yrj.2 + 3 978 c.490C>A c.(490-492)CGG>AGG p.R164R RBM4_uc009yrk.2_Silent_p.R139R|RBM4_uc001oiw.1_Silent_p.R164R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R164R|RBM4_uc001oiz.1_Silent_p.R164R NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 164 CCHC-type. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CGGCTGCTATCGGTGCGGGAA 0.567 NaN 1 0 0.000274275 0.004482 0.000279026 7 53 RBM4B 83759 broad.mit.edu 37 11 66444285 66444285 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:66444285C>T uc001oja.2 - 1 935 c.266G>A c.(265-267)TGT>TAT p.C89Y RBM4B_uc001ojb.2_Missense_Mutation_p.C89Y NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 89 RRM 2. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 TTGGTTGGTACAAGTGGGGCT 0.488 NaN 0 0 0 0.01441 0 124 295 TPCN2 219931 broad.mit.edu 37 11 68838874 68838874 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:68838874C>T uc001oos.2 + 10 1062 c.946C>T c.(946-948)CGG>TGG p.R316W TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.R231W|TPCN2_uc010rqg.1_Missense_Mutation_p.R316W|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 316 Cytoplasmic (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGTCAGTTCCGGGGCTACCT 0.602 NaN 0 0 0 0.000602 0 5 12 PIWIL4 143689 broad.mit.edu 37 11 94340677 94340677 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:94340677C>T uc001pfa.2 + 14 1922 c.1711C>T c.(1711-1713)CCA>TCA p.P571S PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 571 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTCAGACTGCCCAGTCCCAAG 0.423 NaN 0 0 0 0.005443 0 26 48 RDX 5962 broad.mit.edu 37 11 110124732 110124732 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:110124732T>C uc001pku.2 - 9 1208 c.898A>G c.(898-900)ATT>GTT p.I300V RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.I300V|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.I164V NM_002906 NP_002897 P35241 RADI_HUMAN radixin 300 actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TGTACTTCAATAGTATCAGGC 0.408 NaN 0 0 0 0.008361 0 32 95 BUD13 84811 broad.mit.edu 37 11 116640940 116640940 + Splice_Site SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:116640940T>C uc001ppn.2 - 2 178 c.144_splice c.e2-1 p.G48_splice BUD13_uc001ppo.2_Splice_Site_p.G48_splice|BUD13_uc009yzc.2_Splice_Site_p.G48_splice NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) ATCCGCATTCTAAATGAGAAT 0.368 NaN 0 0 0 0.00245 0 13 57 MLL 4297 broad.mit.edu 37 11 118344511 118344511 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:118344511G>A uc001pta.2 + 3 2660 c.2637G>A c.(2635-2637)GAG>GAA p.E879E MLL_uc001ptb.2_Silent_p.E879E|MLL_uc001psz.1_Silent_p.E912E|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 879 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) gagaccgggagagagaaaagg 0.274 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.00278 0 23 54 TRIM29 23650 broad.mit.edu 37 11 120008356 120008356 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:120008356G>C uc001pwz.2 - 1 508 c.384C>G c.(382-384)CGC>CGG p.R128R TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 128 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AAATGGACTTGCGCAGCTCGC 0.637 NaN 0 0 0 0.00874 0 40 215 GRIK4 2900 broad.mit.edu 37 11 120673512 120673512 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:120673512G>C uc001pxn.2 + 4 480 c.193G>C c.(193-195)GAA>CAA p.E65Q GRIK4_uc009zav.1_Missense_Mutation_p.E65Q|GRIK4_uc009zaw.1_Missense_Mutation_p.E65Q|GRIK4_uc009zax.1_Missense_Mutation_p.E65Q NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 65 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GGCCAAGGTCGAAGTGGACAT 0.602 NaN OREG0021427 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 12 67 ROBO4 54538 broad.mit.edu 37 11 124757737 124757737 + Splice_Site SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:124757737C>T uc001qbg.2 - 13 2089 c.1949_splice c.e13-1 p.E650_splice ROBO4_uc010sas.1_Splice_Site_p.E505_splice|ROBO4_uc001qbh.2_Splice_Site_p.E540_splice|ROBO4_uc001qbi.2_Splice_Site_p.E208_splice|ROBO4_uc010sat.1_Intron NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGCTGCAGCTCTGCAAAGAAA 0.562 NaN 0 0 0 0.001855 0 14 45 SLC37A2 219855 broad.mit.edu 37 11 124949113 124949113 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:124949113C>T uc001qbn.2 + 5 671 c.420C>T c.(418-420)ATC>ATT p.I140I SLC37A2_uc010sau.1_Silent_p.I140I NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 140 carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TCTGGAACATCCACGAGCTCT 0.557 NaN 0 0 0 0.007291 0 29 133 ARHGAP32 9743 broad.mit.edu 37 11 128910840 128910840 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:128910840T>C uc009zcp.2 - 10 986 c.986A>G c.(985-987)AAC>AGC p.N329S ARHGAP32_uc009zcq.1_Missense_Mutation_p.N289S|ARHGAP32_uc001qfb.2_Missense_Mutation_p.N114S NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 329 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TGGCACTGAGTTGGTCACTGA 0.398 NaN 0 0 0 0.000602 0 5 17 BARX2 8538 broad.mit.edu 37 11 129246012 129246012 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:129246012G>A uc001qfc.3 + 1 132 c.82G>A c.(82-84)GAC>AAC p.D28N NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 28 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) TTTCATGATCGACGAGATCCT 0.617 NaN OREG0021508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 62 131 BARX2 8538 broad.mit.edu 37 11 129246023 129246023 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:129246023C>G uc001qfc.3 + 1 143 c.93C>G c.(91-93)CTC>CTG p.L31L NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 31 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) ACGAGATCCTCTCCAAGGAGA 0.597 NaN OREG0021508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010818 0 33 178 SNX19 399979 broad.mit.edu 37 11 130785628 130785628 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:130785628G>A uc001qgk.3 - 1 755 c.207C>T c.(205-207)CTC>CTT p.L69L SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 69 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCACTCCAGCGAGGCTGGAGC 0.602 NaN 0 0 0 0.013537 0 8 37 CCDC77 84318 broad.mit.edu 37 12 538021 538021 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:538021C>T uc001qig.2 + 6 680 c.500C>T c.(499-501)CCT>CTT p.P167L CCDC77_uc009zdk.2_Missense_Mutation_p.P135L|CCDC77_uc010sdp.1_Missense_Mutation_p.P135L|CCDC77_uc010sdq.1_Missense_Mutation_p.P135L NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 167 centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TGTAAGGAGCCTCCTCACAAA 0.443 NaN 0 0 0 0.01441 0 70 167 NCAPD2 9918 broad.mit.edu 37 12 6626188 6626188 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:6626188G>C uc001qoo.2 + 10 1228 c.1182G>C c.(1180-1182)CAG>CAC p.Q394H NCAPD2_uc009zen.1_Missense_Mutation_p.Q266H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q349H NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 394 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 TTGTCCAGCAGAAGGTAACCA 0.458 NaN 0 0 0 0.009535 0 31 154 NCAPD2 9918 broad.mit.edu 37 12 6626830 6626830 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:6626830G>C uc001qoo.2 + 12 1435 c.1389G>C c.(1387-1389)CAG>CAC p.Q463H NCAPD2_uc009zen.1_Missense_Mutation_p.Q335H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q418H NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 463 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 TGAGGGCCCAGAGGCGAACTG 0.483 NaN 0 0 0 0.000602 0 5 51 ZNF384 171017 broad.mit.edu 37 12 6777233 6777233 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:6777233G>T uc010sfh.1 - 11 1589 c.1381C>A c.(1381-1383)CAG>AAG p.Q461K ZNF384_uc001qpz.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqa.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqb.2_Missense_Mutation_p.Q384K|ZNF384_uc001qqc.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqd.2_Missense_Mutation_p.Q345K|ZNF384_uc001qqe.2_Missense_Mutation_p.Q384K NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 461 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 acctgttgctgAAGATCAGGC 0.204 NaN T EWSR1|TAF15 ALL 1 0 9.31168e-06 0.001855 9.5059e-06 10 49 CD163L1 283316 broad.mit.edu 37 12 7559389 7559389 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:7559389C>G uc001qsy.2 - 5 852 c.826G>C c.(826-828)GAG>CAG p.E276Q CD163L1_uc010sge.1_Missense_Mutation_p.E286Q NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 276 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ATTTTCAGCTCTACTCTCCCC 0.473 NaN 0 0 0 0.012319 0 19 110 CLEC9A 283420 broad.mit.edu 37 12 10218209 10218209 + Missense_Mutation SNP A A C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:10218209A>C uc001qxa.2 + 9 1317 c.704A>C c.(703-705)TAT>TCT p.Y235S NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 235 Extracellular (Potential). positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 TGTGAGAAGTATGCGTTGAGA 0.448 NaN 0 0 0 0.013726 0 31 145 DUSP16 80824 broad.mit.edu 37 12 12630725 12630725 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:12630725G>A uc001rao.1 - 7 1672 c.1040C>T c.(1039-1041)TCA>TTA p.S347L DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S199L NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 347 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) TGCTGCCTCTGAGGTAGCAGA 0.537 NaN 0 0 0 0.008361 0 27 46 DUSP16 80824 broad.mit.edu 37 12 12630832 12630832 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:12630832G>C uc001rao.1 - 7 1565 c.933C>G c.(931-933)CTC>CTG p.L311L DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.L163L NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 311 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GCAGCAGCTTGAGTTTGCTCT 0.517 NaN 0 0 0 0.01441 0 49 92 DUSP16 80824 broad.mit.edu 37 12 12630910 12630910 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:12630910G>A uc001rao.1 - 7 1487 c.855C>T c.(853-855)TTC>TTT p.F285F DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.F137F NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 285 Tyrosine-protein phosphatase. inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CCAGAAAATTGAAGTTTGGAG 0.398 NaN 0 0 0 0.01441 0 60 152 ETNK1 55500 broad.mit.edu 37 12 22778128 22778128 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:22778128G>A uc001rft.2 + 1 53 c.31G>A c.(31-33)GAC>AAC p.D11N ETNK1_uc009ziz.2_Missense_Mutation_p.D11N|ETNK1_uc001rfs.2_Missense_Mutation_p.D11N NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 11 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 GTCCAGCTCCGACAACAGGAA 0.716 NaN 0 0 0 0.009096 0 3 5 C12orf11 55726 broad.mit.edu 37 12 27067466 27067466 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:27067466C>G uc001rhk.3 - 12 1831 c.1294G>C c.(1294-1296)GAC>CAC p.D432H C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Missense_Mutation_p.D331H NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 432 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) TATCTGGGGTCTAGAAAAGGA 0.348 NaN 0 0 0 0.00499 0 17 63 KLHDC5 57542 broad.mit.edu 37 12 27933977 27933977 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:27933977C>T uc001rij.2 + 1 791 c.714C>T c.(712-714)CCC>CCT p.P238P KLHDC5_uc009zjj.2_RNA NM_020782 NP_065833 Q9P2K6 KLDC5_HUMAN kelch domain containing 5 238 Kelch 2. ovary(1)|central_nervous_system(1) 2 Lung SC(9;0.0873) ACCTTCCTCCCGACCTGGTCA 0.622 NaN 0 0 0 0.001984 0 7 15 TMTC1 83857 broad.mit.edu 37 12 29757224 29757224 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:29757224C>T uc001rjb.2 - 7 1287 c.813G>A c.(811-813)GAG>GAA p.E271E TMTC1_uc001riz.2_Silent_p.E28E|TMTC1_uc001rja.2_Silent_p.E115E|TMTC1_uc001rjc.1_Silent_p.E333E NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 379 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CCTCCTTGTGCTCCAGTCTCT 0.468 NaN 0 0 0 0.004482 0 9 30 DENND5B 160518 broad.mit.edu 37 12 31613259 31613259 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:31613259G>A uc001rki.1 - 4 1147 c.961C>T c.(961-963)CAA>TAA p.Q321* DENND5B_uc001rkh.1_Nonsense_Mutation_p.Q356*|DENND5B_uc009zjq.1_Nonsense_Mutation_p.Q240*|DENND5B_uc001rkj.2_Nonsense_Mutation_p.Q343*|DENND5B_uc001rkk.1_Nonsense_Mutation_p.Q243* NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 321 DENN. integral to membrane ovary(1)|central_nervous_system(1) 2 TGTTGCCATTGAAATGGGAAC 0.438 NaN 0 0 0 0.014323 0 23 33 PDZRN4 29951 broad.mit.edu 37 12 41967407 41967407 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:41967407C>T uc010skn.1 + 10 2297 c.2229C>T c.(2227-2229)AGC>AGT p.S743S PDZRN4_uc001rmq.3_Silent_p.S684S|PDZRN4_uc009zjz.2_Silent_p.S682S|PDZRN4_uc001rmr.2_Silent_p.S569S NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 942 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCTACTGGAGCAAAGAGGAGA 0.542 NaN 0 0 0 0.00499 0 17 41 PRICKLE1 144165 broad.mit.edu 37 12 42854114 42854114 + Nonsense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:42854114C>A uc010skv.1 - 8 2280 c.1993G>T c.(1993-1995)GAG>TAG p.E665* PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.E665*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.E665*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.E665*|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 665 Arg/His-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GATCCCCTCTCTTCAAAATTG 0.483 NaN 1 0 0.000566183 0.00499 0.000575326 17 79 ANO6 196527 broad.mit.edu 37 12 45782045 45782045 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:45782045G>A uc001roo.2 + 11 1602 c.1267G>A c.(1267-1269)GAA>AAA p.E423K ANO6_uc010sld.1_Missense_Mutation_p.E423K|ANO6_uc010sle.1_Missense_Mutation_p.E423K|ANO6_uc010slf.1_Missense_Mutation_p.E444K|ANO6_uc010slg.1_Missense_Mutation_p.E405K NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 423 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ACCAGAATACGAAGCACGATG 0.403 NaN 0 0 0 0.01441 0 55 128 TROAP 10024 broad.mit.edu 37 12 49721057 49721057 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:49721057C>G uc001rtx.3 + 8 1002 c.835C>G c.(835-837)CTT>GTT p.L279V TROAP_uc009zlh.2_Missense_Mutation_p.L279V|TROAP_uc001rty.2_5'UTR NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 279 cell adhesion cytoplasm ovary(1) 1 TGTGGCCTCTCTTGGTCTGGC 0.512 NaN 0 0 0 0.00278 0 21 146 SPATS2 65244 broad.mit.edu 37 12 49890687 49890687 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:49890687C>T uc001rud.2 + 8 1587 c.598C>T c.(598-600)CAA>TAA p.Q200* SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q200*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q200*|SPATS2_uc001rug.2_Nonsense_Mutation_p.Q200* NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 200 cytoplasm breast(1) 1 TCACAATTCTCAACAACCCAG 0.433 NaN 0 0 0 0.01441 0 62 126 SPATS2 65244 broad.mit.edu 37 12 49918549 49918549 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:49918549C>T uc001rud.2 + 13 2185 c.1196C>T c.(1195-1197)TCT>TTT p.S399F SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.S399F|SPATS2_uc001ruf.2_Missense_Mutation_p.S399F|SPATS2_uc001rug.2_Missense_Mutation_p.S399F NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 399 Ser-rich. cytoplasm breast(1) 1 AGTGATGCCTCTGCTGCTTCC 0.493 NaN 0 0 0 0.01441 0 63 136 TMPRSS12 283471 broad.mit.edu 37 12 51279160 51279160 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:51279160G>A uc001rwx.3 + 4 831 c.784G>A c.(784-786)GAT>AAT p.D262N TMPRSS12_uc001rwy.2_Missense_Mutation_p.D262N NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 262 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 TGGAGCTTTTGATACTTGCAG 0.378 NaN 0 0 0 0.01441 0 92 223 DAZAP2 9802 broad.mit.edu 37 12 51634204 51634204 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:51634204C>G uc010snd.1 + 2 275 c.91C>G c.(91-93)CAG>GAG p.Q31E DAZAP2_uc001ryb.2_Missense_Mutation_p.Q31E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q31E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q31E|DAZAP2_uc010snf.1_Missense_Mutation_p.Q31E NM_001136266 NP_001129738 Q15038 DAZP2_HUMAN DAZ associated protein 2 isoform c 31 Pro-rich. WW domain binding 0 GCATCTTCCTCAGGCTCCACC 0.488 NaN 0 0 0 0.010504 0 21 115 MFSD5 84975 broad.mit.edu 37 12 53647277 53647277 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:53647277C>T uc001sci.1 + 2 849 c.658C>T c.(658-660)CGA>TGA p.R220* MFSD5_uc001sch.1_Nonsense_Mutation_p.R327* NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 220 transport integral to membrane skin(2)|ovary(1) 3 CTTGGCCCTTCGAAACTGGGG 0.662 NaN 0 0 0 0.003271 0 32 79 ESPL1 9700 broad.mit.edu 37 12 53677897 53677897 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:53677897G>A uc001sck.2 + 17 3224 c.3133G>A c.(3133-3135)GAT>AAT p.D1045N ESPL1_uc001scj.2_Missense_Mutation_p.D720N|ESPL1_uc010soe.1_Missense_Mutation_p.D256N NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1045 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CAATGACATTGATCTCTGTCA 0.542 NaN 0 0 0 0.01441 0 77 222 HOXC6 3223 broad.mit.edu 37 12 54423560 54423560 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:54423560C>T uc001sev.2 + 2 634 c.522C>T c.(520-522)ATC>ATT p.I174I HOXC6_uc001ses.2_Silent_p.I92I|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 174 Homeobox. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 GCATCGAGATCGCCAACGCGC 0.562 NaN 0 0 0 0.00333 0 24 92 DGKA 1606 broad.mit.edu 37 12 56334172 56334172 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:56334172C>T uc001sij.2 + 11 1137 c.873C>T c.(871-873)ATC>ATT p.I291I DGKA_uc009zoc.1_Silent_p.I291I|DGKA_uc001sih.1_Silent_p.I179I|DGKA_uc001sii.1_Silent_p.I149I|DGKA_uc009zod.1_Silent_p.I210I|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.I291I|DGKA_uc001sil.2_Silent_p.I291I|DGKA_uc001sim.2_Silent_p.I291I|DGKA_uc001sin.2_Silent_p.I291I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Silent_p.I33I NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 291 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) AGATCCGGATCTACCACAGTC 0.582 NaN OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005524 0 38 84 ESYT1 23344 broad.mit.edu 37 12 56536448 56536448 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:56536448C>T uc001sjq.2 + 26 2870 c.2820C>T c.(2818-2820)CTC>CTT p.L940L ESYT1_uc001sjr.2_Silent_p.L950L NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 940 integral to membrane ovary(4)|skin(1) 5 AACCAGAGCTCTCGGGGGGAC 0.602 NaN 0 0 0 0.008291 0 11 60 TIMELESS 8914 broad.mit.edu 37 12 56816695 56816695 + Missense_Mutation SNP A A C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:56816695A>C uc001slf.2 - 19 2542 c.2374T>G c.(2374-2376)TTG>GTG p.L792V NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 792 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TTCCAGAACAACAGCTCCACA 0.502 NaN 0 0 0 0.011902 0 47 102 MYO1A 4640 broad.mit.edu 37 12 57436895 57436895 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:57436895G>C uc001smw.3 - 12 1302 c.1059C>G c.(1057-1059)CTC>CTG p.L353L MYO1A_uc010sqz.1_Silent_p.L191L|MYO1A_uc009zpd.2_Silent_p.L353L NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 353 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TCCAGTCAAAGAGGCGGCTGT 0.547 NaN 0 0 0 0.001168 0 6 52 MBD6 114785 broad.mit.edu 37 12 57920498 57920498 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:57920498G>A uc001soj.1 + 7 1794 c.1570G>A c.(1570-1572)GAG>AAG p.E524K MBD6_uc001sok.1_Missense_Mutation_p.E391K|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 524 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CCCCAGCCCTGAGCAGGGCCT 0.652 NaN 0 0 0 0.00278 0 24 84 OS9 10956 broad.mit.edu 37 12 58114292 58114292 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:58114292C>T uc001spj.2 + 14 1928 c.1869C>T c.(1867-1869)TTC>TTT p.F623F OS9_uc010srx.1_Silent_p.F362F|OS9_uc001spk.2_Silent_p.F608F|OS9_uc001spl.2_Silent_p.F568F|OS9_uc001spm.2_Silent_p.F553F|OS9_uc001spn.2_Silent_p.F569F|OS9_uc010sry.1_Silent_p.F536F|OS9_uc010srz.1_Silent_p.F494F NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 623 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) AGATCTTCTTCAATATCTTGG 0.299 NaN 0 0 0 0.000602 0 5 51 RAP1B 5908 broad.mit.edu 37 12 69044231 69044231 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:69044231G>C uc001sub.2 + 3 272 c.109G>C c.(109-111)GAA>CAA p.E37Q RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E37Q|RAP1B_uc010stf.1_Missense_Mutation_p.E37Q|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.E37Q NM_001089704 NP_001083173 P61224 RAP1B_HUMAN SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family; 37 Effector region (Probable). E->A: Strong reduction in nucleotide exchange with EPAC2. blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding 0 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) TCCTACGATAGAAGATTCTTA 0.234 NaN 0 0 0 0.00308 0 6 50 NUP107 57122 broad.mit.edu 37 12 69126474 69126474 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:69126474G>T uc001suf.2 + 23 2171 c.2056G>T c.(2056-2058)GCA>TCA p.A686S NUP107_uc001sug.2_Missense_Mutation_p.A445S|NUP107_uc010stj.1_Missense_Mutation_p.A657S NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 686 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AGCGCAGAGGGCAGAAGCACT 0.274 NaN 1 0 4.26978e-12 0.00333 4.44117e-12 22 43 BEST3 144453 broad.mit.edu 37 12 70088210 70088210 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:70088210C>G uc001svg.2 - 3 414 c.187G>C c.(187-189)GAA>CAA p.E63Q BEST3_uc001svd.1_Missense_Mutation_p.E63Q|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 63 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GATAATTTTTCAAAGTAACGT 0.378 NaN 0 0 0 0.00308 0 8 41 KCNC2 3747 broad.mit.edu 37 12 75437006 75437006 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:75437006C>T uc001sxg.1 - 5 2340 c.1796G>A c.(1795-1797)CGA>CAA p.R599Q KCNC2_uc009zry.2_Intron|KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Missense_Mutation_p.R544Q NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 599 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 GTTTAAGCTTCGGGATTTTTC 0.433 NaN 0 0 0 0.001855 0 12 72 LRRIQ1 84125 broad.mit.edu 37 12 85547824 85547824 + Silent SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:85547824T>C uc001tac.2 + 23 4783 c.4672T>C c.(4672-4674)TTG>CTG p.L1558L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1558 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TCAGCAAATGTTGAAGAGGGC 0.289 NaN 0 0 0 0.008291 0 9 28 DUSP6 1848 broad.mit.edu 37 12 89743278 89743278 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:89743278G>A uc001tay.2 - 3 1379 c.899C>T c.(898-900)TCA>TTA p.S300L DUSP6_uc001taz.2_Missense_Mutation_p.S154L NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 300 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 CACAGTGACTGAGCGGCTAAT 0.458 NaN 0 0 0 0.003755 0 35 99 ATP2B1 490 broad.mit.edu 37 12 90005096 90005096 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:90005096G>C uc001tbh.2 - 12 2302 c.2121C>G c.(2119-2121)GTC>GTG p.V707V ATP2B1_uc001tbg.2_Silent_p.V707V|ATP2B1_uc001tbf.2_Silent_p.V377V NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 707 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 TATCACCAGTGACCATCCGCA 0.358 NaN 0 0 0 0.01441 0 67 410 TMCC3 57458 broad.mit.edu 37 12 94965382 94965382 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:94965382G>A uc001tdj.2 - 4 1381 c.1263C>T c.(1261-1263)TTC>TTT p.F421F TMCC3_uc001tdi.2_Silent_p.F390F NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 421 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 TGACAGTCATGAAGGCCAGGA 0.532 NaN 0 0 0 0.008361 0 29 75 C12orf48 55010 broad.mit.edu 37 12 102559617 102559617 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:102559617C>T uc001tjf.2 + 6 889 c.777C>T c.(775-777)TTC>TTT p.F259F C12orf48_uc001tjg.2_Silent_p.F178F|C12orf48_uc010swa.1_Silent_p.F336F|C12orf48_uc001tjh.2_Silent_p.F178F|C12orf48_uc010swb.1_Silent_p.F145F|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Silent_p.F259F|C12orf48_uc009zud.2_Silent_p.F259F NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 259 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 TTATTAATTTCATTGACAAAT 0.303 NaN 0 0 0 0.012319 0 23 166 SLC41A2 84102 broad.mit.edu 37 12 105282830 105282830 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:105282830G>A uc001tla.2 - 4 1028 c.861C>T c.(859-861)TTC>TTT p.F287F NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 287 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 GAGATGCAATGAAGGCAGTTG 0.353 NaN 0 0 0 0.01441 0 59 154 KIAA1033 23325 broad.mit.edu 37 12 105558049 105558049 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:105558049G>A uc001tld.2 + 31 3405 c.3318G>A c.(3316-3318)ATG>ATA p.M1106I KIAA1033_uc010swr.1_Missense_Mutation_p.M1107I|KIAA1033_uc010sws.1_Missense_Mutation_p.M918I NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 1106 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 TACAAACCATGAATCTCACTC 0.408 NaN 0 0 0 0.001855 0 14 52 NAA25 80018 broad.mit.edu 37 12 112477111 112477111 + Nonsense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:112477111G>T uc001ttm.2 - 22 2591 c.2571C>A c.(2569-2571)TAC>TAA p.Y857* NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Y829*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Y835* NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 857 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 CACTCTCACAGTAACTGGATA 0.328 NaN 1 0 1.52319e-26 0.00874 1.61096e-26 40 101 C12orf51 283450 broad.mit.edu 37 12 112608964 112608964 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:112608964G>A uc009zwc.2 - 61 10641 c.10623C>T c.(10621-10623)CCC>CCT p.P3541P NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GGGTATACATGGGTGTCTGGC 0.632 NaN 0 0 0 0.001168 0 5 17 C12orf52 84934 broad.mit.edu 37 12 113629482 113629482 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:113629482C>G uc001tur.1 + 4 1138 c.670C>G c.(670-672)CAG>GAG p.Q224E C12orf52_uc009zwg.1_Missense_Mutation_p.Q221E|C12orf52_uc001tus.1_Missense_Mutation_p.Q224E|C12orf52_uc001tut.1_Missense_Mutation_p.Q248E NM_032848 NP_116237 Q96K30 RITA_HUMAN hypothetical protein LOC84934 224 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding 0 AAATGGGCCTCAGGATCTCAG 0.617 NaN 0 0 0 0.008291 0 10 55 MED13L 23389 broad.mit.edu 37 12 116549237 116549237 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:116549237C>G uc001tvw.2 - 3 446 c.391G>C c.(391-393)GAA>CAA p.E131Q NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 131 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCTTACCTTTCTAACAGATTG 0.383 NaN 0 0 0 0.001855 0 13 114 CIT 11113 broad.mit.edu 37 12 120221778 120221778 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:120221778C>T uc001txi.1 - 12 1532 c.1479G>A c.(1477-1479)CTG>CTA p.L493L CIT_uc001txh.1_Silent_p.L27L|CIT_uc001txj.1_Silent_p.L493L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 493 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAGAGGCCTTCAGCTCCACCT 0.542 NaN 0 0 0 0.01441 0 62 273 HIP1R 9026 broad.mit.edu 37 12 123342655 123342655 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:123342655C>G uc001udj.1 + 19 1881 c.1822C>G c.(1822-1824)CAG>GAG p.Q608E HIP1R_uc001udk.1_5'UTR NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 608 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CCAGGAGTCTCAGGAGCAGGG 0.652 NaN 0 0 0 0.00499 0 11 91 CHFR 55743 broad.mit.edu 37 12 133428210 133428210 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:133428210G>A uc001ulf.2 - 12 1606 c.1522C>T c.(1522-1524)CAG>TAG p.Q508* CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.Q496*|CHFR_uc010tbs.1_Nonsense_Mutation_p.Q507*|CHFR_uc001uld.2_Nonsense_Mutation_p.Q467*|CHFR_uc010tbt.1_Nonsense_Mutation_p.Q416* NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 508 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TCACACTGCTGAGGGGCGACA 0.657 NaN 0 0 0 0.01441 0 54 163 PSPC1 55269 broad.mit.edu 37 13 20283725 20283725 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:20283725C>T uc001uml.2 - 7 1359 c.1173G>A c.(1171-1173)ATG>ATA p.M391I PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) CACCCATTCTCATTTCCTGTT 0.373 NaN 0 0 0 0.01441 0 50 115 SACS 26278 broad.mit.edu 37 13 23904719 23904719 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:23904719G>C uc001uon.2 - 10 13885 c.13296C>G c.(13294-13296)TTC>TTG p.F4432L SACS_uc001uoo.2_Missense_Mutation_p.F4285L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4432 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAGGAACAAAGAACCTTTGAG 0.478 NaN 0 0 0 0.007835 0 42 112 SACS 26278 broad.mit.edu 37 13 23904867 23904867 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:23904867G>C uc001uon.2 - 10 13737 c.13148C>G c.(13147-13149)TCA>TGA p.S4383* SACS_uc001uoo.2_Nonsense_Mutation_p.S4236*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4383 J. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCGGGATGCTGAGGTTGAAAA 0.378 NaN 0 0 0 0.009718 0 45 135 SACS 26278 broad.mit.edu 37 13 23905173 23905173 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:23905173G>C uc001uon.2 - 10 13431 c.12842C>G c.(12841-12843)TCT>TGT p.S4281C SACS_uc001uoo.2_Missense_Mutation_p.S4134C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4281 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTCTCTACCAGAGAAAAGAGG 0.478 NaN 0 0 0 0.007291 0 29 84 USP12 219333 broad.mit.edu 37 13 27645266 27645266 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:27645266T>C uc001uqy.2 - 8 1206 c.953A>G c.(952-954)TAT>TGT p.Y318C NM_182488 NP_872294 O75317 UBP12_HUMAN ubiquitin thiolesterase 12 318 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1) 1 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TATTGCAATATAATGGCCTCG 0.274 NaN 0 0 0 0.001855 0 12 68 CCNA1 8900 broad.mit.edu 37 13 37011849 37011849 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:37011849C>T uc001uvr.3 + 3 731 c.381C>T c.(379-381)GTC>GTT p.V127V CCNA1_uc010teo.1_Silent_p.V83V|CCNA1_uc010abq.2_Silent_p.V83V|CCNA1_uc010abp.2_Silent_p.V83V|CCNA1_uc001uvs.3_Silent_p.V126V|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 127 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) ACTGTGGGGTCCAAGAGCCCC 0.498 NaN 0 0 0 0.009535 0 32 74 CCDC70 83446 broad.mit.edu 37 13 52439716 52439716 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:52439716G>C uc001vfu.3 + 2 498 c.202G>C c.(202-204)GAG>CAG p.E68Q uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 68 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CTTCAGGGAAGAGATGTGGAC 0.468 NaN 0 0 0 0.013537 0 12 89 TMTC4 84899 broad.mit.edu 37 13 101278119 101278119 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:101278119C>G uc001vou.2 - 13 1717 c.1557G>C c.(1555-1557)ATG>ATC p.M519I TMTC4_uc001vot.2_Missense_Mutation_p.M538I|TMTC4_uc010tja.1_Missense_Mutation_p.M408I|TMTC4_uc001vov.1_Missense_Mutation_p.M264I|TMTC4_uc001vow.1_Missense_Mutation_p.M302I NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 519 TPR 3. integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAAGATTATTCATGGCATGAA 0.343 NaN 0 0 0 0.006122 0 16 56 COL4A2 1284 broad.mit.edu 37 13 111077333 111077333 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:111077333G>A uc001vqx.2 + 6 638 c.349G>A c.(349-351)GAT>AAT p.D117N NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 117 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCCTGGTGCCGATGGAATTCC 0.433 NaN 0 0 0 0.00308 0 7 72 C13orf16 121793 broad.mit.edu 37 13 111973258 111973258 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr13:111973258G>A uc001vsa.2 + 2 150 c.21G>A c.(19-21)GTG>GTA p.V7V NM_152324 NP_689537 Q8N6K0 CM016_HUMAN hypothetical protein LOC121793 7 Extracellular (Potential). integral to membrane 0 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188) TGCTGGAAGTGAAGAACTCTC 0.652 NaN 0 0 0 0.012319 0 18 45 OR4K5 79317 broad.mit.edu 37 14 20389242 20389242 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:20389242G>T uc010tkw.1 + 1 477 c.477G>T c.(475-477)CAG>CAT p.Q159H NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTAAGCCAGTTATCATTTA 0.448 NaN 1 0 3.54119e-60 0.01441 3.77242e-60 142 767 RPGRIP1 57096 broad.mit.edu 37 14 21780010 21780010 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:21780010G>A uc001wag.2 + 8 958 c.958G>A c.(958-960)GAG>AAG p.E320K NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 320 Potential. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGCAGCCCATGAGGCCCTCCT 0.512 NaN 0 0 0 0.000602 0 5 11 RPGRIP1 57096 broad.mit.edu 37 14 21780081 21780081 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:21780081G>C uc001wag.2 + 8 1029 c.1029G>C c.(1027-1029)TTG>TTC p.L343F NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 343 Potential. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CTGTGAGCTTGAAGAGCCAAC 0.453 NaN 0 0 0 0.008291 0 11 11 FBXO33 254170 broad.mit.edu 37 14 39868857 39868857 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:39868857G>A uc001wvk.2 - 4 1869 c.1531C>T c.(1531-1533)CAT>TAT p.H511Y NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 511 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) ATAAGGTTATGCACTGGATCT 0.488 NaN 0 0 0 0.008291 0 9 26 FAM179B 23116 broad.mit.edu 37 14 45433564 45433564 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:45433564G>A uc001wvv.2 + 1 2149 c.1940G>A c.(1939-1941)CGA>CAA p.R647Q FAM179B_uc001wvw.2_Missense_Mutation_p.R647Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R647Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R647Q NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 647 binding skin(2)|upper_aerodigestive_tract(1) 3 ATCTGTACCCGAAGGGTATTA 0.443 NaN 0 0 0 0.003163 0 16 44 FAM179B 23116 broad.mit.edu 37 14 45542646 45542646 + Nonsense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:45542646C>G uc001wvv.2 + 19 5254 c.5045C>G c.(5044-5046)TCA>TGA p.S1682* FAM179B_uc001wvw.2_Nonsense_Mutation_p.S1735*|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1682 binding skin(2)|upper_aerodigestive_tract(1) 3 GCTAAATTATCAAAAGCACTC 0.403 NaN 0 0 0 0.012319 0 19 58 TMX1 81542 broad.mit.edu 37 14 51707163 51707163 + Splice_Site SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:51707163G>C uc001wza.3 + 1 277 c.152_splice c.e1+1 p.F51_splice TMX1_uc010tqr.1_Splice_Site_p.F51_splice|TMX1_uc010aoa.2_Splice_Site NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN thioredoxin domain containing 1 precursor anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity 0 TGATAGAATTGTGAGTGCGGG 0.647 NaN 0 0 0 0.004672 0 3 15 ZFP36L1 677 broad.mit.edu 37 14 69256711 69256711 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:69256711C>T uc001xkh.1 - 2 686 c.556G>A c.(556-558)GCC>ACC p.A186T ZFP36L1_uc001xki.1_Missense_Mutation_p.A186T NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 186 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CGGGCCCCGGCCAGGGCACGG 0.572 NaN OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 32 YLPM1 56252 broad.mit.edu 37 14 75231008 75231008 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:75231008G>A uc001xqj.3 + 1 940 c.816G>A c.(814-816)AAG>AAA p.K272K NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCAAAAACAAGAGTACTGAAC 0.532 NaN 0 0 0 0.001168 0 5 11 C14orf174 161394 broad.mit.edu 37 14 77846794 77846794 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:77846794G>T uc001xtq.1 + 2 1758 c.1758G>T c.(1756-1758)CAG>CAT p.Q586H NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 586 SAM. 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) ACCTCCCTCAGATGGGGATAA 0.423 NaN 1 0 1.61879e-10 0.013537 1.67783e-10 12 28 PTPN21 11099 broad.mit.edu 37 14 88946469 88946469 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:88946469G>A uc001xwv.3 - 13 1637 c.1306C>T c.(1306-1308)CGG>TGG p.R436W PTPN21_uc010twc.1_Missense_Mutation_p.R232W NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 436 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 GCGCTGTGCCGATGGGACGGG 0.607 NaN 0 0 0 0.006214 0 9 30 TDP1 55775 broad.mit.edu 37 14 90429474 90429474 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:90429474G>A uc001xxy.2 + 3 315 c.16G>A c.(16-18)GAT>AAT p.D6N TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.D6N|TDP1_uc010atn.2_Missense_Mutation_p.D6N|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.D6N|TDP1_uc001xyc.1_Missense_Mutation_p.D6N NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 6 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TCAGGAAGGCGATTATGGGAG 0.433 NaN Repair_of_DNA-protein_crosslinks 0 0 0 0.010504 0 19 69 CATSPERB 79820 broad.mit.edu 37 14 92139220 92139220 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:92139220G>T uc001xzs.1 - 13 1259 c.1119C>A c.(1117-1119)TTC>TTA p.F373L CATSPERB_uc010aub.1_5'Flank NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 373 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) CCTTGTTATAGAAGAGGTAAA 0.353 NaN 1 0 5.82218e-30 0.01441 6.17249e-30 57 192 PAPOLA 10914 broad.mit.edu 37 14 97003330 97003330 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:97003330G>A uc001yfq.2 + 12 1258 c.1048G>A c.(1048-1050)GAA>AAA p.E350K PAPOLA_uc001yfr.2_Missense_Mutation_p.E350K|PAPOLA_uc010twv.1_Missense_Mutation_p.E350K|PAPOLA_uc010avp.2_Missense_Mutation_p.E100K NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 350 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TATCACAGATGAAATTTTGCT 0.318 NaN 0 0 0 0.010729 0 11 43 DYNC1H1 1778 broad.mit.edu 37 14 102514870 102514870 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:102514870C>T uc001yks.2 + 74 13400 c.13236C>T c.(13234-13236)TTC>TTT p.F4412F NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4412 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGTTCAGGTTCTTTGAGAGAG 0.483 NaN 0 0 0 0.006214 0 9 37 KLC1 3831 broad.mit.edu 37 14 104121150 104121150 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr14:104121150G>A uc001yno.2 + 2 557 c.249G>A c.(247-249)CTG>CTA p.L83L KLC1_uc010tyd.1_Silent_p.L242L|KLC1_uc010tye.1_Silent_p.L79L|KLC1_uc001ynm.1_Silent_p.L83L|KLC1_uc001ynn.1_Silent_p.L79L|KLC1_uc010tyf.1_Silent_p.L83L NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 83 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) AGCTCGGCCTGAGTGAGGCAC 0.418 NaN 0 0 0 0.004482 0 9 53 BUB1B 701 broad.mit.edu 37 15 40501871 40501871 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:40501871C>T uc001zkx.3 + 17 2391 c.2179C>T c.(2179-2181)CGC>TGC p.R727C NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 727 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTCACAGTATCGCAGACAGCT 0.418 NaN Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 0 0 0 0.005443 0 25 145 C15orf52 388115 broad.mit.edu 37 15 40633137 40633137 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:40633137C>T uc001zlh.3 - 1 32 c.16G>A c.(16-18)GAG>AAG p.E6K C15orf52_uc001zli.1_5'Flank NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 6 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CTTCGCTGCTCAGCACACGAG 0.647 NaN 0 0 0 0.009096 0 3 14 MAPKBP1 23005 broad.mit.edu 37 15 42107900 42107900 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:42107900G>A uc001zok.3 + 13 1700 c.1414G>A c.(1414-1416)GAT>AAT p.D472N MAPKBP1_uc001zoj.3_Missense_Mutation_p.D466N|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D466N|MAPKBP1_uc010udb.1_Missense_Mutation_p.D305N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 472 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGACAAAGCTGATGCATCCCT 0.547 NaN 0 0 0 0.001984 0 7 26 EHD4 30844 broad.mit.edu 37 15 42193072 42193072 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:42193072G>C uc001zot.2 - 6 1460 c.1397C>G c.(1396-1398)TCA>TGA p.S466* NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 466 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GTTGACACCTGATATCTTGCC 0.597 NaN 0 0 0 0.010729 0 10 51 CDAN1 146059 broad.mit.edu 37 15 43022925 43022925 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:43022925C>T uc001zql.2 - 14 2162 c.2045G>A c.(2044-2046)CGA>CAA p.R682Q CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.E8K NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 682 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTGCAGCCCTCGCTGCAGCAG 0.637 NaN 0 0 0 0.00308 0 7 15 GATM 2628 broad.mit.edu 37 15 45654374 45654374 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:45654374C>T uc001zvc.2 - 9 1534 c.1205G>A c.(1204-1206)GGA>GAA p.G402E GATM_uc001zvb.2_Missense_Mutation_p.G273E NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 402 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GAAGCCTCCTCCCAGGGAATT 0.498 NaN 0 0 0 0.00308 0 7 53 SLC27A2 11001 broad.mit.edu 37 15 50518226 50518226 + Missense_Mutation SNP A A T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:50518226A>T uc001zxw.2 + 6 1441 c.1209A>T c.(1207-1209)AAA>AAT p.K403N SLC27A2_uc010bes.2_Missense_Mutation_p.K350N|SLC27A2_uc001zxx.2_Missense_Mutation_p.K168N NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 403 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) ATGTGGAGAAAGATGAACCTG 0.318 NaN 0 0 0 0.007835 0 41 104 MYO5C 55930 broad.mit.edu 37 15 52553307 52553307 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:52553307C>T uc010bff.2 - 10 1202 c.1065G>A c.(1063-1065)CTG>CTA p.L355L MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.*255* NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 355 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) AGAACACCTTCAGGTGACTGT 0.572 NaN 0 0 0 0.00333 0 22 54 RNF111 54778 broad.mit.edu 37 15 59344515 59344515 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:59344515G>A uc002afv.2 + 3 1171 c.892G>A c.(892-894)GAA>AAA p.E298K RNF111_uc002afs.2_Missense_Mutation_p.E298K|RNF111_uc002aft.2_Missense_Mutation_p.E298K|RNF111_uc002afu.2_Missense_Mutation_p.E298K|RNF111_uc002afw.2_Missense_Mutation_p.E298K NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 298 Ser-rich.|Interaction with AXIN1. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) AAGTATTGATGAAGATGTTGT 0.373 NaN 0 0 0 0.004656 0 28 149 HERC1 8925 broad.mit.edu 37 15 63984612 63984612 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:63984612G>A uc002amp.2 - 31 5976 c.5828C>T c.(5827-5829)TCA>TTA p.S1943L NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1943 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 ACATGTACCTGAAGAACATTT 0.358 NaN 0 0 0 0.007413 0 18 88 RASL12 51285 broad.mit.edu 37 15 65347506 65347506 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:65347506C>T uc002aoi.1 - 5 747 c.532G>A c.(532-534)GAG>AAG p.E178K RASL12_uc002aoj.1_Missense_Mutation_p.E159K|RASL12_uc010uir.1_Missense_Mutation_p.E167K NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN RAS-like, family 12 protein 178 small GTPase mediated signal transduction membrane GTP binding|GTPase activity skin(1) 1 CGCACTGCCTCGTGGAAGACA 0.647 NaN 0 0 0 0.004482 0 7 29 FEM1B 10116 broad.mit.edu 37 15 68582398 68582398 + Silent SNP C C T rs142803256 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:68582398C>T uc002arg.2 + 2 1317 c.702C>T c.(700-702)GTC>GTT p.V234V FEM1B_uc002arh.2_Silent_p.V154V NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 234 ANK 6. apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 AAGCTGATGTCGTAGAACTGT 0.458 NaN 0 0 0 0.003755 0 36 466 ITGA11 22801 broad.mit.edu 37 15 68600001 68600001 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:68600001A>G uc002ari.2 - 27 3295 c.3208T>C c.(3208-3210)TGC>CGC p.C1070R ITGA11_uc010bib.2_Missense_Mutation_p.C1071R NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 1070 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CGTATATTGCAGTTGATGGAG 0.542 NaN 0 0 0 0.01441 0 62 22 THAP10 56906 broad.mit.edu 37 15 71174897 71174897 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:71174897C>T uc002asv.2 - 3 812 c.670G>A c.(670-672)GAC>AAC p.D224N LRRC49_uc002asu.2_Intron NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 224 DNA binding|metal ion binding ovary(1)|skin(1) 2 GAGTAAATGTCAAAGAGAGAG 0.393 NaN 0 0 0 0.013726 0 34 187 PML 5371 broad.mit.edu 37 15 74336969 74336969 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:74336969C>T uc002awv.2 + 9 2409 c.2269C>T c.(2269-2271)CTC>TTC p.L757F PML_uc002awu.2_Missense_Mutation_p.L709F|PML_uc010ule.1_Missense_Mutation_p.L318F NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 757 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GTGCCGCCTCCTCGAGGTCTC 0.652 NaN T RARA|PAX5 APL|ALL 0 0 0 0.000602 0 4 23 FANCI 55215 broad.mit.edu 37 15 89834895 89834895 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:89834895G>C uc010bnp.1 + 20 2032 c.1942G>C c.(1942-1944)GAA>CAA p.E648Q FANCI_uc002bnm.1_Missense_Mutation_p.E648Q|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.E469Q|FANCI_uc002bnq.1_Missense_Mutation_p.E61Q NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 648 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TCTGAAATTAGAAGCTTGTAT 0.353 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.00874 0 38 161 C15orf42 90381 broad.mit.edu 37 15 90161397 90161397 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:90161397G>C uc002boe.2 + 17 2975 c.2975G>C c.(2974-2976)GGT>GCT p.G992A NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 992 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCTGATCCTGGTCCTGATATT 0.413 NaN 0 0 0 0.01441 0 157 269 AP3S2 10239 broad.mit.edu 37 15 90431850 90431850 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:90431850G>A uc002boq.3 - 3 612 c.176C>T c.(175-177)TCT>TTT p.S59F AP3S2_uc002bos.3_Missense_Mutation_p.S260F|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_Intron NM_005829 NP_005820 P59780 AP3S2_HUMAN adaptor-related protein complex 3, sigma 2 59 intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) TTTGTAGTCAGAGCCACCAAT 0.418 NaN 0 0 0 0.009096 0 3 35 CHD2 1106 broad.mit.edu 37 15 93558043 93558043 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:93558043C>T uc002bsp.2 + 37 5385 c.4810C>T c.(4810-4812)CAG>TAG p.Q1604* CHD2_uc002bso.1_Nonsense_Mutation_p.Q1604* NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1604 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCTTCACCCTCAGAAGCCTCA 0.532 NaN 0 0 0 0.00333 0 22 170 CHD2 1106 broad.mit.edu 37 15 93558052 93558052 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr15:93558052C>T uc002bsp.2 + 37 5394 c.4819C>T c.(4819-4821)CAT>TAT p.H1607Y CHD2_uc002bso.1_Missense_Mutation_p.H1607Y NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1607 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TCAGAAGCCTCATTTGCCTGC 0.517 NaN 0 0 0 0.005443 0 25 174 AXIN1 8312 broad.mit.edu 37 16 339566 339566 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:339566G>A uc002cgp.1 - 10 2513 c.2336C>T c.(2335-2337)CCG>CTG p.P779L AXIN1_uc002cgq.1_Missense_Mutation_p.P743L NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 779 Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GCTGTCACACGGCTGGGCACT 0.637 NaN 0 0 0 0.001168 0 6 34 MAPK8IP3 23162 broad.mit.edu 37 16 1797074 1797074 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:1797074C>T uc002cmk.2 + 6 909 c.789C>T c.(787-789)GCC>GCT p.A263A MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.A263A|MAPK8IP3_uc010uvl.1_Silent_p.A264A NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 263 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCTCGGCGGCCGCCACACCCA 0.667 NaN 0 0 0 0.000602 0 3 21 OR2C1 4993 broad.mit.edu 37 16 3406140 3406140 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:3406140C>G uc002cuw.1 + 1 252 c.200C>G c.(199-201)TCC>TGC p.S67C NM_012368 NP_036500 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGCAACCTCTCCTCCTTGGAC 0.522 NaN 0 0 0 0.006999 0 37 161 CREBBP 1387 broad.mit.edu 37 16 3807965 3807965 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:3807965G>A uc002cvv.2 - 18 3658 c.3454C>T c.(3454-3456)CAG>TAG p.Q1152* CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q1114* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1152 Bromo. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCCACGTACTGCCAGGGCTCT 0.458 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.004007 0 16 65 ITPRIPL2 162073 broad.mit.edu 37 16 19126049 19126049 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:19126049C>T uc002dfu.3 + 1 796 c.266C>T c.(265-267)TCG>TTG p.S89L ITPRIPL2_uc002dft.2_5'UTR NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 89 Cytoplasmic (Potential). integral to membrane skin(2) 2 GCCTTCTCCTCGAGACACTTC 0.662 NaN 0 0 0 0.001168 0 5 14 TAOK2 9344 broad.mit.edu 37 16 29998037 29998037 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:29998037G>A uc002dva.1 + 16 3227 c.2444G>A c.(2443-2445)AGG>AAG p.R815K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R822K|TAOK2_uc002dvd.1_Missense_Mutation_p.R642K NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 815 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 AAGCAGCAGAGGATTCTGGGG 0.552 NaN 0 0 0 0.008291 0 10 76 ZNF689 115509 broad.mit.edu 37 16 30620909 30620909 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:30620909C>T uc002dyx.2 - 2 576 c.256G>A c.(256-258)GAT>AAT p.D86N ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 86 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) TCCCAGTCATCGGTGTTTCGT 0.567 NaN 0 0 0 0.008291 0 9 53 SRCAP 10847 broad.mit.edu 37 16 30735080 30735080 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:30735080C>T uc002dze.1 + 25 4720 c.4335C>T c.(4333-4335)ACC>ACT p.T1445T SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T1240T|SRCAP_uc010bzz.1_Silent_p.T1015T NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1445 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CTGTCCCCACCACACTTCCTG 0.567 NaN 0 0 0 0.009535 0 32 118 ABCC12 94160 broad.mit.edu 37 16 48177901 48177901 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:48177901C>T uc002efc.1 - 2 541 c.195G>A c.(193-195)GTG>GTA p.V65V ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.V65V|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 65 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) GGTAGCCTTTCACCATCACCG 0.552 NaN 0 0 0 0.010729 0 12 163 ADCY7 113 broad.mit.edu 37 16 50339495 50339495 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:50339495G>A uc002egd.1 + 12 1945 c.1677G>A c.(1675-1677)ACG>ACA p.T559T ADCY7_uc002egc.1_Silent_p.T559T NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 559 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TCAGCTCCACGAGGTGAGGTC 0.612 NaN 0 0 0 0.01441 0 53 88 ADCY7 113 broad.mit.edu 37 16 50339739 50339739 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:50339739G>A uc002egd.1 + 13 1999 c.1731G>A c.(1729-1731)CTG>CTA p.L577L ADCY7_uc002egc.1_Silent_p.L577L NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 577 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CCATCTTCCTGGAGAAGGGCT 0.672 NaN 0 0 0 0.010818 0 30 44 BRD7 29117 broad.mit.edu 37 16 50383964 50383964 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:50383964G>A uc002egf.1 - 6 628 c.561C>T c.(559-561)AAC>AAT p.N187N BRD7_uc002ege.1_Silent_p.N187N NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 187 Bromo. cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) GATAGTCATTGTTCTTGATCT 0.343 NaN 0 0 0 0.01441 0 86 121 PRSS54 221191 broad.mit.edu 37 16 58314274 58314274 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:58314274C>T uc002enf.2 - 7 1437 c.1042G>A c.(1042-1044)GAG>AAG p.E348K PRSS54_uc002eng.2_Missense_Mutation_p.E348K|PRSS54_uc010vie.1_Missense_Mutation_p.E249K|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 348 proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACAGACGCCTCAGGAGACCTG 0.478 NaN 0 0 0 0.012319 0 22 63 RRAD 6236 broad.mit.edu 37 16 66957559 66957559 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:66957559G>A uc002eqn.2 - 4 661 c.509C>T c.(508-510)TCA>TTA p.S170L RRAD_uc002eqo.2_Missense_Mutation_p.S170L NM_001128850 NP_001122322 P55042 RAD_HUMAN Ras-related associated with diabetes 170 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GTCCGTCACTGAGTACACAAT 0.607 NaN 0 0 0 0.00278 0 22 69 CES2 8824 broad.mit.edu 37 16 66976646 66976646 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:66976646G>A uc002eqr.2 + 10 2570 c.1570G>A c.(1570-1572)GAG>AAG p.E524K CES2_uc002eqq.2_Intron|CES2_uc002eqs.2_Missense_Mutation_p.E367K NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 460 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CCATGGTGATGAGCTTCCTTT 0.552 NaN 0 0 0 0.010729 0 11 51 RLTPR 146206 broad.mit.edu 37 16 67683380 67683380 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:67683380C>T uc002etn.2 + 20 1897 c.1777C>T c.(1777-1779)CGG>TGG p.R593W RLTPR_uc010cel.1_Missense_Mutation_p.R586W|RLTPR_uc010vjr.1_Missense_Mutation_p.R557W NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 593 Tropomodulin-like.|LRR 13. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGCTGAGTCTCGGCTGAAGCT 0.632 NaN 0 0 0 0.00308 0 6 26 TSNAXIP1 55815 broad.mit.edu 37 16 67859121 67859121 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:67859121G>A uc002euj.2 + 7 992 c.598G>A c.(598-600)GAC>AAC p.D200N TSNAXIP1_uc010cep.2_Missense_Mutation_p.D64N|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.D77N|TSNAXIP1_uc002euf.3_5'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.D254N|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.D185N|TSNAXIP1_uc002eug.3_5'UTR|TSNAXIP1_uc002euh.3_5'UTR|TSNAXIP1_uc002eui.3_5'UTR|TSNAXIP1_uc002euk.2_5'UTR NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 200 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CCTCATCGCAGACCTGAATGA 0.542 NaN 0 0 0 0.00245 0 15 45 SLC12A4 6560 broad.mit.edu 37 16 67985184 67985184 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:67985184C>T uc002euz.2 - 9 1297 c.1156G>A c.(1156-1158)GAG>AAG p.E386K SLC12A4_uc010ceu.2_Missense_Mutation_p.E380K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E355K|SLC12A4_uc010vki.1_Missense_Mutation_p.E386K|SLC12A4_uc010vkj.1_Missense_Mutation_p.E388K|SLC12A4_uc002eva.2_Missense_Mutation_p.E386K|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 386 Cytoplasmic (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCACCCTTCTCCAGGTAGGCG 0.632 NaN 0 0 0 0.014323 0 22 76 HP 3240 broad.mit.edu 37 16 72094456 72094456 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:72094456G>A uc002fbr.3 + 7 932 c.888G>A c.(886-888)CTG>CTA p.L296L TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.L237L|HP_uc002fbt.3_Silent_p.L237L|HP_uc002fbu.1_Silent_p.L34L|HP_uc002fbv.3_Silent_p.L207L|HP_uc002fbw.3_Silent_p.L118L|HP_uc002fbx.3_Silent_p.L118L|HPR_uc002fby.2_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 296 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CTGACCATCTGAAGTATGTCA 0.493 NaN 0 0 0 0.00245 0 15 36 HPR 3250 broad.mit.edu 37 16 72108235 72108235 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:72108235G>C uc002fby.2 + 3 174 c.144G>C c.(142-144)TTG>TTC p.L48F TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 48 Sushi. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) TGGAGCACTTGTTTCGCTACC 0.493 NaN 0 0 0 0.013537 0 13 63 ADAMTS18 170692 broad.mit.edu 37 16 77325188 77325188 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:77325188C>A uc002ffc.3 - 21 3796 c.3377G>T c.(3376-3378)GGA>GTA p.G1126V NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1126 TSP type-1 5. 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 TGAATACCATCCAGCTACCAT 0.502 NaN 1 0 0.00198382 0.001984 0.0020089 5 77 ATP2C2 9914 broad.mit.edu 37 16 84473071 84473071 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:84473071C>T uc002fhx.2 + 13 1239 c.1150C>T c.(1150-1152)CTG>TTG p.L384L ATP2C2_uc010chj.2_Silent_p.L384L|ATP2C2_uc002fhy.2_Silent_p.L401L|ATP2C2_uc002fhz.2_Silent_p.L233L NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 384 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 GACGGGGACTCTGACTGCCAA 0.502 NaN 0 0 0 0.01441 0 52 205 ZCCHC14 23174 broad.mit.edu 37 16 87445991 87445991 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:87445991G>C uc002fjz.1 - 12 1952 c.1925C>G c.(1924-1926)TCG>TGG p.S642W ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S418W NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 642 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) AACAGATGACGACAGCAGCAG 0.592 NaN 0 0 0 0.005443 0 29 109 ZCCHC14 23174 broad.mit.edu 37 16 87446150 87446150 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr16:87446150G>C uc002fjz.1 - 12 1793 c.1766C>G c.(1765-1767)TCC>TGC p.S589C ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S365C NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 589 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGGACCAAAGGAGACTGTGGG 0.657 NaN 0 0 0 0.00308 0 8 46 MYO1C 4641 broad.mit.edu 37 17 1371362 1371362 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:1371362T>C uc002fsp.2 - 28 3036 c.2816A>G c.(2815-2817)CAG>CGG p.Q939R MYO1C_uc002fsn.2_Missense_Mutation_p.Q920R|MYO1C_uc002fso.2_Missense_Mutation_p.Q904R|MYO1C_uc010vqj.1_Missense_Mutation_p.Q904R NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 939 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GAGCAGCAGCTGCCGGGAGCG 0.627 NaN 0 0 0 0.008291 0 7 39 PRPF8 10594 broad.mit.edu 37 17 1576684 1576684 + Silent SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:1576684G>T uc002fte.2 - 23 3738 c.3624C>A c.(3622-3624)ACC>ACA p.T1208T NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1208 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CGTCCTTGTGGGTGAACTCCT 0.587 NaN 1 0 2.0095e-06 0.001984 2.05857e-06 7 36 PRPF8 10594 broad.mit.edu 37 17 1576731 1576731 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:1576731C>T uc002fte.2 - 23 3691 c.3577G>A c.(3577-3579)GAG>AAG p.E1193K NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1193 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATGCGGCACTCGAAGCCACAC 0.577 NaN 0 0 0 0.008871 0 19 61 KIAA0664 23277 broad.mit.edu 37 17 2597243 2597243 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:2597243C>T uc002fuy.1 - 19 3151 c.3065G>A c.(3064-3066)TGC>TAC p.C1022Y KIAA0664_uc002fux.1_Missense_Mutation_p.C955Y|KIAA0664_uc010ckc.1_Missense_Mutation_p.C8Y NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 1022 TPR 2. binding breast(2) 2 GAGGCGCAGGCAGGCGCAGGT 0.627 NaN 0 0 0 0.001984 0 6 10 ATP2A3 489 broad.mit.edu 37 17 3856676 3856676 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:3856676C>T uc002fxb.1 - 3 335 c.184G>A c.(184-186)GTG>ATG p.V62M ATP2A3_uc002fwx.1_Missense_Mutation_p.V62M|ATP2A3_uc002fwy.1_Missense_Mutation_p.V62M|ATP2A3_uc002fwz.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxa.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxc.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxd.1_Missense_Mutation_p.V62M NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 62 Helical; Name=1; (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) AGGATGCGCACCAGGAGGTCC 0.647 NaN 0 0 0 0.00308 0 7 61 ANKFY1 51479 broad.mit.edu 37 17 4086695 4086695 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:4086695G>A uc002fxq.1 - 14 1988 c.1950C>T c.(1948-1950)GTC>GTT p.V650V ANKFY1_uc002fxn.2_Silent_p.V692V|ANKFY1_uc002fxo.2_Silent_p.V650V|ANKFY1_uc002fxp.2_Silent_p.V649V|ANKFY1_uc010ckp.2_Silent_p.V591V NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 650 ANK 9. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 CCTCCTACCTGACATTTATAT 0.488 NaN 0 0 0 0.00333 0 22 89 GGT6 124975 broad.mit.edu 37 17 4462916 4462916 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:4462916G>A uc002fyd.3 - 2 340 c.280C>T c.(280-282)CCA>TCA p.P94S GGT6_uc010vsb.1_5'UTR|GGT6_uc002fyc.3_Missense_Mutation_p.P94S|GGT6_uc010vsc.1_Missense_Mutation_p.P94S NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 isoform a 94 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity skin(1) 1 CCGCCGGGTGGAGGGGCCACA 0.677 NaN 0 0 0 0.008291 0 11 16 ZNF594 84622 broad.mit.edu 37 17 5086687 5086687 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:5086687G>A uc010cla.1 - 2 1021 c.865C>T c.(865-867)CAC>TAC p.H289Y NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 289 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TCTCCAGTGTGAATTCTCTGA 0.433 NaN 0 0 0 0.012319 0 21 154 NLRP1 22861 broad.mit.edu 37 17 5462822 5462822 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:5462822G>A uc002gci.2 - 4 1749 c.1194C>T c.(1192-1194)ATC>ATT p.I398I NLRP1_uc002gcg.1_Silent_p.I398I|NLRP1_uc002gck.2_Silent_p.I398I|NLRP1_uc002gcj.2_Silent_p.I398I|NLRP1_uc002gcl.2_Silent_p.I398I|NLRP1_uc002gch.3_Silent_p.I398I|NLRP1_uc010clh.2_Silent_p.I398I NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 398 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCCTAGACAGGATCTGTCTAA 0.577 NaN 0 0 0 0.004482 0 6 38 SLC13A5 284111 broad.mit.edu 37 17 6610016 6610016 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:6610016G>C uc002gdj.2 - 3 401 c.313C>G c.(313-315)CTG>GTG p.L105V SLC13A5_uc010vtf.1_Missense_Mutation_p.L105V|SLC13A5_uc010clq.2_Missense_Mutation_p.L62V|SLC13A5_uc002gdk.2_Missense_Mutation_p.L105V|SLC13A5_uc002gdl.1_5'Flank NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 105 integral to membrane citrate transmembrane transporter activity 0 CTCTTGTGCAGGTTCCAGCGC 0.627 NaN 0 0 0 0.009096 0 3 26 BCL6B 255877 broad.mit.edu 37 17 6930283 6930283 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:6930283G>C uc002geg.2 + 8 1257 c.1200G>C c.(1198-1200)CGG>CGC p.R400R BCL6B_uc010clt.1_Silent_p.R401R NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 400 C2H2-type 3. nucleus zinc ion binding skin(1) 1 CACATCTGCGGGCGCACGTGC 0.632 NaN 0 0 0 0.008291 0 11 56 C17orf81 23587 broad.mit.edu 37 17 7160258 7160258 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:7160258C>T uc002gfg.1 + 6 647 c.540C>T c.(538-540)CTC>CTT p.L180L C17orf81_uc002gfj.2_Silent_p.L180L|C17orf81_uc010cmb.2_Silent_p.L180L|C17orf81_uc002gfh.1_Silent_p.L180L|C17orf81_uc002gfi.1_Silent_p.L180L|C17orf81_uc002gfl.1_Silent_p.L180L NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 TGGGAGCTCTCAGCAGCCTTG 0.617 NaN 0 0 0 0.00245 0 13 29 GPS2 2874 broad.mit.edu 37 17 7217447 7217447 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:7217447G>A uc002gfv.1 - 4 612 c.349C>T c.(349-351)CAG>TAG p.Q117* GPS2_uc002gfw.1_Nonsense_Mutation_p.Q79*|GPS2_uc002gfx.1_Nonsense_Mutation_p.Q117*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.Q117* NM_004489 NP_004480 Q13227 GPS2_HUMAN G protein pathway suppressor 2 117 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity ovary(2)|pancreas(1) 3 Prostate(122;0.157) AGGCTCTGCTGGTATGCAGCT 0.507 NaN 0 0 0 0.010818 0 31 148 ACAP1 9744 broad.mit.edu 37 17 7250445 7250445 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:7250445C>T uc002ggd.2 + 14 1433 c.1227C>T c.(1225-1227)GCC>GCT p.A409A NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 409 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 ACGTGGTGGCCCAGGTCCAGA 0.667 NaN 0 0 0 0.006214 0 9 48 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C A rs121912655 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:7577556C>A uc002gim.2 - 7 919 c.725G>T c.(724-726)TGC>TTC p.C242F TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 1 0 0.000274275 0.004482 0.000279026 8 39 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:7578275G>A uc002gim.2 - 6 768 c.574C>T c.(574-576)CAG>TAG p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 192 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATAAGATGCTGAGGAGGGGCC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00278 0 23 33 EFNB3 1949 broad.mit.edu 37 17 7612706 7612706 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:7612706G>A uc002gis.2 + 5 1232 c.835G>A c.(835-837)GGT>AGT p.G279S NM_001406 NP_001397 Q15768 EFNB3_HUMAN ephrin-B3 precursor 279 Cytoplasmic (Potential). cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity ovary(1) 1 all_cancers(10;1.14e-06)|Prostate(122;0.081) GGGCCTGGGGGGTGGAGGTGG 0.697 NaN 0 0 0 0.00308 0 8 27 PIK3R5 23533 broad.mit.edu 37 17 8791859 8791859 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:8791859G>A uc002glt.2 - 10 1312 c.1245C>T c.(1243-1245)CGC>CGT p.R415R PIK3R5_uc010vuz.1_Silent_p.R415R|PIK3R5_uc002glu.3_Silent_p.R29R|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Silent_p.R29R NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 415 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GCCCAGGCCTGCGGTGGCCTC 0.632 NaN 0 0 0 0.008291 0 10 9 LRRC48 83450 broad.mit.edu 37 17 17891266 17891266 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:17891266G>A uc010vxd.1 + 6 677 c.298G>A c.(298-300)GAG>AAG p.E100K LRRC48_uc002gsa.2_Missense_Mutation_p.E100K|LRRC48_uc010vxc.1_Missense_Mutation_p.E100K|LRRC48_uc002gsb.2_Missense_Mutation_p.E100K NM_001130090 NP_001123562 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 isoform a 100 LRR 3. cytoplasm pancreas(1) 1 all_neural(463;0.228) CAACAACATTGAGACCATCGA 0.552 NaN 0 0 0 0.006214 0 9 43 B9D1 27077 broad.mit.edu 37 17 19251136 19251136 + Missense_Mutation SNP C C T rs148240978 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:19251136C>T uc002gvk.3 - 4 466 c.302G>A c.(301-303)CGA>CAA p.R101Q B9D1_uc010cqm.1_Missense_Mutation_p.E77K|B9D1_uc002gvl.3_Missense_Mutation_p.E77K|B9D1_uc010vyr.1_Missense_Mutation_p.E121K|B9D1_uc010vys.1_Missense_Mutation_p.E152K|B9D1_uc010cqn.1_Missense_Mutation_p.E152K NM_015681 NP_056496 Q9UPM9 B9D1_HUMAN B9 protein 101 B9. cilium assembly centrosome|microtubule basal body protein binding 0 all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143) CCCATAGCCTCGAACCACATC 0.607 NaN 0 0 0 0.004482 0 8 35 FOXN1 8456 broad.mit.edu 37 17 26856166 26856166 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:26856166C>T uc010crm.2 + 5 952 c.754C>T c.(754-756)CAG>TAG p.Q252* FOXN1_uc002hbj.2_Nonsense_Mutation_p.Q252* NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 252 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CTCACACTATCAGTACCAGCG 0.567 NaN 0 0 0 0.00245 0 14 90 NEK8 284086 broad.mit.edu 37 17 27068520 27068520 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:27068520G>A uc002hcp.2 + 14 1981 c.1981G>A c.(1981-1983)GAT>AAT p.D661N TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 661 RCC1 5. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) AGTGCAGTTGGATGAGACACA 0.567 NaN 0 0 0 0.00245 0 15 64 TIAF1 9220 broad.mit.edu 37 17 27401192 27401192 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:27401192C>G uc002hdv.1 - 1 1436 c.26G>C c.(25-27)AGA>ACA p.R9T MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR NM_004740 NP_004731 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 9 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus 0 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGACTGCTCTCTGAAGGGTGA 0.597 NaN 0 0 0 0.00308 0 7 45 CORO6 84940 broad.mit.edu 37 17 27946710 27946710 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:27946710C>T uc002hel.2 - 2 282 c.280G>A c.(280-282)GAC>AAC p.D94N CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 94 WD 1. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 ATAACGTTGTCATTGTGTGGA 0.572 NaN 0 0 0 0.012319 0 23 141 TBC1D29 26083 broad.mit.edu 37 17 28887196 28887196 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:28887196A>G uc002hfh.2 + 2 223 c.74A>G c.(73-75)GAT>GGT p.D25G TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 25 Rab-GAP TBC; truncated. intracellular Rab GTPase activator activity 0 Myeloproliferative disorder(56;0.0255) GTGCTGAATGATGGGGTAAGG 0.627 NaN 0 0 0 0.000602 0 5 11 CCL15 6359 broad.mit.edu 37 17 34325917 34325917 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:34325917G>A uc010wcu.1 - 2 690 c.121C>T c.(121-123)CCA>TCA p.P41S CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA NM_032965 NP_116741 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 precursor 41 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAACTACTGGATTTTCCAGT 0.438 NaN 0 0 0 0.011902 0 41 70 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:37868208C>T uc002hso.2 + 8 1167 c.929C>T c.(928-930)TCC>TTC p.S310F ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 310 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(2)|p.S310Y(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.01441 0 52 251 KRT34 3885 broad.mit.edu 37 17 39538574 39538574 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:39538574C>T uc002hwm.2 - 1 63 c.51G>A c.(49-51)CAG>CAA p.Q17Q NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 17 Head. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) TCTCCTTCCTCTGCAGTCCTT 0.458 NaN 0 0 0 0.010504 0 19 84 ACLY 47 broad.mit.edu 37 17 40070073 40070073 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:40070073G>A uc002hyg.2 - 2 217 c.54C>T c.(52-54)TTC>TTT p.F18F ACLY_uc002hyh.2_Silent_p.F18F|ACLY_uc002hyi.2_Silent_p.F72F|ACLY_uc010wfx.1_Silent_p.F72F|ACLY_uc010wfy.1_Silent_p.F18F NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 18 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) TGGTACAGATGAACTTGTAAA 0.562 NaN 0 0 0 0.004656 0 25 178 GRN 2896 broad.mit.edu 37 17 42429721 42429721 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:42429721G>C uc002igp.1 + 12 1645 c.1426G>C c.(1426-1428)GAG>CAG p.E476Q GRN_uc002igr.1_Missense_Mutation_p.E270Q NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 476 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGTGTGCTGCGAGGATCGCCA 0.637 NaN 0 0 0 0.001168 0 6 28 PLCD3 113026 broad.mit.edu 37 17 43196285 43196285 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:43196285C>T uc002iib.2 - 5 924 c.810G>A c.(808-810)CTG>CTA p.L270L NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 270 EF-hand 3. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) CAGGGGCACTCAGCACGCGGT 0.637 NaN 0 0 0 0.001984 0 7 11 NFE2L1 4779 broad.mit.edu 37 17 46128694 46128694 + Missense_Mutation SNP A A G rs117666459 by1000genomes TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:46128694A>G uc002imz.3 + 2 865 c.214A>G c.(214-216)ATA>GTA p.I72V NFE2L1_uc002ina.3_Missense_Mutation_p.I72V|NFE2L1_uc002inb.3_Missense_Mutation_p.I72V|NFE2L1_uc002inc.1_Missense_Mutation_p.I72V NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 72 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 CCCCAAGAGCATAGACCTGGA 0.567 NaN 0 0 0 0.003755 0 38 115 SAMD14 201191 broad.mit.edu 37 17 48191613 48191613 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:48191613C>T uc002iqg.2 - 8 1179 c.880G>A c.(880-882)GGG>AGG p.G294R SAMD14_uc002iqd.2_Missense_Mutation_p.G77R|SAMD14_uc002iqe.2_Missense_Mutation_p.G77R|SAMD14_uc002iqf.2_Missense_Mutation_p.G322R NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 294 0 TGCCAGGGCCCACTGGGGATC 0.597 NaN 0 0 0 0.010729 0 10 36 XYLT2 64132 broad.mit.edu 37 17 48434547 48434547 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:48434547G>A uc002iqo.2 + 9 1984 c.1875G>A c.(1873-1875)CTG>CTA p.L625L XYLT2_uc010dbo.2_Intron NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 625 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) AGATGTGGCTGATGCCCCAAG 0.632 NaN 0 0 0 0.001168 0 6 15 LRRC59 55379 broad.mit.edu 37 17 48460409 48460409 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:48460409G>A uc002iqt.2 - 7 1018 c.864C>T c.(862-864)GTC>GTT p.V288V NM_018509 NP_060979 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 288 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding central_nervous_system(1) 1 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) GTAGACCCTGGACCGCATTGT 0.597 NaN 0 0 0 0.001168 0 6 8 RAD51C 5889 broad.mit.edu 37 17 56809868 56809868 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:56809868C>A uc002iwu.2 + 8 1031 c.989C>A c.(988-990)CCC>CAC p.P330H RAD51C_uc010woa.1_Missense_Mutation_p.P330H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 330 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACAAGTCACCCAGCCAGAAG 0.328 NaN Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 1 0 7.26314e-15 0.007291 7.58155e-15 24 83 HELZ 9931 broad.mit.edu 37 17 65141898 65141898 + Silent SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:65141898T>C uc010wqk.1 - 21 2920 c.2733A>G c.(2731-2733)GTA>GTG p.V911V HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.V910V NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TTTTTTCTTGTACATCTTCTC 0.373 NaN 0 0 0 0.008291 0 11 108 ABCA6 23460 broad.mit.edu 37 17 67075194 67075194 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:67075194C>G uc002jhw.1 - 39 4949 c.4774G>C c.(4774-4776)GAA>CAA p.E1592Q NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1592 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) ACTTCCTGTTCTTTAGAAAGC 0.348 NaN 0 0 0 0.010729 0 12 54 DNAI2 64446 broad.mit.edu 37 17 72301563 72301563 + Missense_Mutation SNP C C T rs143470009 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:72301563C>T uc002jkf.2 + 9 1292 c.1193C>T c.(1192-1194)TCG>TTG p.S398L DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 398 WD 4. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 AGCCGGGAATCGTCCATCATG 0.622 NaN Kartagener_syndrome 0 0 0 0.008291 0 11 17 GRIN2C 2905 broad.mit.edu 37 17 72842905 72842905 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:72842905T>C uc002jlt.1 - 10 2312 c.2156A>G c.(2155-2157)AAG>AGG p.K719R GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.K719R NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 719 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CCACCCCATCTTGAGGCTGGT 0.617 NaN 0 0 0 0.00278 0 12 26 OTOP2 92736 broad.mit.edu 37 17 72929508 72929508 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:72929508C>T uc010wrp.1 + 8 1646 c.1557C>T c.(1555-1557)TTC>TTT p.F519F OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 519 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) GCCCTCATTTCAGCAACACAG 0.572 NaN 0 0 0 0.00333 0 20 77 ICT1 3396 broad.mit.edu 37 17 73017052 73017052 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:73017052G>A uc002jmm.2 + 6 575 c.573G>A c.(571-573)AAG>AAA p.K191K NM_001545 NP_001536 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 precursor 191 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific ovary(1)|central_nervous_system(1) 2 all_lung(278;0.226) TGAGACAAAAGAGAATTCATT 0.498 NaN 0 0 0 0.008361 0 30 64 UNC13D 201294 broad.mit.edu 37 17 73839336 73839336 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:73839336G>C uc002jpp.2 - 3 545 c.165C>G c.(163-165)CTC>CTG p.L55L UNC13D_uc010wsk.1_Silent_p.L55L|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 55 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CGTCCTCGTAGAGCAGGGCCC 0.642 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.001168 0 5 22 UBE2O 63893 broad.mit.edu 37 17 74387282 74387282 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr17:74387282G>A uc002jrm.3 - 18 3686 c.3621C>T c.(3619-3621)GGC>GGT p.G1207G UBE2O_uc002jrl.3_Silent_p.G811G NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1207 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 CTGAGGCCAGGCCCTGGGCAC 0.632 NaN 0 0 0 0.00245 0 13 96 EPB41L3 23136 broad.mit.edu 37 18 5397338 5397338 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:5397338C>T uc002kmt.1 - 18 2646 c.2560G>A c.(2560-2562)GAG>AAG p.E854K EPB41L3_uc010wzh.1_Missense_Mutation_p.E685K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E632K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E523K|EPB41L3_uc002kms.1_Missense_Mutation_p.E89K|EPB41L3_uc010wze.1_Missense_Mutation_p.E159K|EPB41L3_uc010wzf.1_Missense_Mutation_p.E151K|EPB41L3_uc010wzg.1_Missense_Mutation_p.E126K|EPB41L3_uc010dkr.2_Missense_Mutation_p.E246K NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 854 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AACACGGTCTCCTGCACCACC 0.602 NaN 0 0 0 0.00308 0 8 40 KATNAL2 83473 broad.mit.edu 37 18 44626625 44626625 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:44626625G>A uc002lco.2 + 14 1353 c.1159G>A c.(1159-1161)GAG>AAG p.E387K KATNAL2_uc002lcp.3_Missense_Mutation_p.E314K NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 459 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 GCTGTTTCAGGAGACTGAGGG 0.507 NaN OREG0024959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003954 0 23 35 MYO5B 4645 broad.mit.edu 37 18 47428979 47428980 + Missense_Mutation DNP CC CC AA TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:47428979_47428980CC>AA uc002leb.2 - 21 3083_3084 c.2795_2796GG>TT c.(2794-2796)CGG>CTT p.R932L MYO5B_uc002lea.2_Missense_Mutation_p.R73L NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 932 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CATCGATCTTCCGCTGCAGCTG 0.594 NaN 0 0 0 0.004672 0 27 53 DCC 1630 broad.mit.edu 37 18 50977029 50977029 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:50977029G>C uc002lfe.1 + 23 3976 c.3389G>C c.(3388-3390)AGA>ACA p.R1130T DCC_uc010dpf.1_Missense_Mutation_p.R765T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1130 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCCCAGCAGAGAAAGTAGGTA 0.473 NaN 0 0 0 0.001168 0 5 32 MBD2 8932 broad.mit.edu 37 18 51731413 51731413 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:51731413C>T uc002lfg.1 - 2 886 c.657G>A c.(655-657)CAG>CAA p.Q219Q MBD2_uc002lfh.1_Silent_p.Q219Q NM_003927 NP_003918 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 isoform 1 219 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding 0 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) GTTTGTTCTTCTGTAATTTAC 0.388 NaN 0 0 0 0.01441 0 74 148 CD226 10666 broad.mit.edu 37 18 67562996 67562996 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:67562996T>C uc010dqo.2 - 3 1115 c.668A>G c.(667-669)TAC>TGC p.Y223C CD226_uc002lkm.3_Missense_Mutation_p.Y223C NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 223 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) GGCCTGCAAGTAGCAGCGGTA 0.522 NaN 0 0 0 0.00333 0 24 141 RTTN 25914 broad.mit.edu 37 18 67871418 67871418 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:67871418G>C uc002lkp.2 - 3 369 c.301C>G c.(301-303)CTG>GTG p.L101V RTTN_uc010xfb.1_Translation_Start_Site|RTTN_uc002lkq.1_Missense_Mutation_p.L101V NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 101 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TCAGCCTGCAGATTTGGCTCC 0.433 NaN 0 0 0 0.007413 0 19 134 CTDP1 9150 broad.mit.edu 37 18 77474710 77474710 + Missense_Mutation SNP A A C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr18:77474710A>C uc002lnh.1 + 8 1397 c.1250A>C c.(1249-1251)CAA>CCA p.Q417P CTDP1_uc002lni.1_Missense_Mutation_p.Q417P|CTDP1_uc010drd.1_Missense_Mutation_p.Q417P NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 417 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) ACCAGCAGCCAAGAGCTGGCA 0.746 NaN 0 0 0 0.001984 0 7 4 ZNF555 148254 broad.mit.edu 37 19 2853251 2853251 + Nonsense_Mutation SNP T T A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:2853251T>A uc002lwo.2 + 4 1277 c.1188T>A c.(1186-1188)TAT>TAA p.Y396* ZNF555_uc002lwn.3_Nonsense_Mutation_p.Y395* NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 396 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAAACCCTATGAATGCAACC 0.498 NaN 0 0 0 0.006214 0 10 64 TLE6 79816 broad.mit.edu 37 19 2987903 2987903 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:2987903G>A uc002lwu.2 + 9 664 c.264G>A c.(262-264)AGG>AGA p.R88R TLE6_uc002lwt.2_Silent_p.R211R|TLE6_uc010dtg.2_Silent_p.R211R|TLE6_uc002lwv.2_5'UTR NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 88 regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGCCCCCAGGCCACCTGAGG 0.667 NaN 0 0 0 0.00245 0 13 18 GNA15 2769 broad.mit.edu 37 19 3157790 3157790 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:3157790C>T uc002lxf.2 + 6 1067 c.809C>T c.(808-810)ACA>ATA p.T270I NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 270 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) TTCAAAAGCACATCCGTCATC 0.507 NaN 0 0 0 0.004289 0 36 213 C19orf28 126321 broad.mit.edu 37 19 3551099 3551099 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:3551099T>C uc002lxz.2 - 2 562 c.392A>G c.(391-393)TAC>TGC p.Y131C C19orf28_uc002lxw.2_Missense_Mutation_p.Y131C|C19orf28_uc002lxx.2_Missense_Mutation_p.Y131C|C19orf28_uc002lxy.2_Missense_Mutation_p.Y122C NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 131 Helical; (Potential). transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) GAACGGGCCGTAGTAGAGGAG 0.637 NaN 0 0 0 0.001168 0 5 22 EEF2 1938 broad.mit.edu 37 19 3984133 3984133 + Splice_Site SNP C C G rs113603517 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:3984133C>G uc002lze.2 - 2 301 c.218_splice c.e2+1 p.T73_splice SNORD37_uc002lzf.1_5'Flank NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGAGCTCACGTTGACTTGA 0.657 NaN 0 0 0 0.006122 0 17 39 ACSBG2 81616 broad.mit.edu 37 19 6177390 6177390 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:6177390C>T uc002mef.1 + 8 1116 c.889C>T c.(889-891)CAA>TAA p.Q297* ACSBG2_uc002mee.1_Nonsense_Mutation_p.Q110*|ACSBG2_uc002meg.1_Nonsense_Mutation_p.Q297*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.Q297*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.Q247*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.Q297* NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 297 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 ATACTTTGCTCAAGCAGATGC 0.507 NaN 0 0 0 0.007413 0 20 34 ZNF557 79230 broad.mit.edu 37 19 7083113 7083113 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:7083113C>T uc002mgb.2 + 8 1115 c.630C>T c.(628-630)TTC>TTT p.F210F ZNF557_uc002mga.2_Silent_p.F217F|ZNF557_uc002mgc.2_Silent_p.F217F NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 210 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) GGAAAACCTTCAGCAGCAGAT 0.438 NaN 0 0 0 0.008361 0 32 52 XAB2 56949 broad.mit.edu 37 19 7684884 7684884 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:7684884C>T uc002mgx.2 - 17 2370 c.2344G>A c.(2344-2346)GAG>AAG p.E782K NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 782 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 CGCTCCGCCTCAGCCGCCAGC 0.667 NaN Direct_reversal_of_damage|NER 0 0 0 0.000602 0 4 16 FBN3 84467 broad.mit.edu 37 19 8136970 8136970 + Silent SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:8136970G>T uc002mjf.2 - 62 8071 c.8050C>A c.(8050-8052)CGG>AGG p.R2684R FBN3_uc002mje.2_Silent_p.R480R NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2684 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGCCGGTCCCGAGGGGAGAGG 0.647 NaN 1 0 2.2871e-25 0.007835 2.41309e-25 37 142 MUC16 94025 broad.mit.edu 37 19 9071731 9071731 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:9071731C>T uc002mkp.2 - 3 15919 c.15715G>A c.(15715-15717)GAT>AAT p.D5239N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5241 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGGACTTATCATGGTCTGGG 0.478 NaN 0 0 0 0.009535 0 29 156 MUC16 94025 broad.mit.edu 37 19 9077704 9077704 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:9077704G>A uc002mkp.2 - 3 9946 c.9742C>T c.(9742-9744)CAG>TAG p.Q3248* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3249 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGTGGACTGAAGGGTGACT 0.517 NaN 0 0 0 0.00333 0 23 166 KEAP1 9817 broad.mit.edu 37 19 10610637 10610637 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:10610637C>T uc002moq.1 - 2 229 c.73G>A c.(73-75)GAG>AAG p.E25K KEAP1_uc002mor.1_Missense_Mutation_p.E25K NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 25 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) CCTGCCCCCTCAGGGCACTGT 0.652 NaN 0 0 0 0.007413 0 19 73 ZNF700 90592 broad.mit.edu 37 19 12060204 12060204 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:12060204C>T uc002msu.2 + 4 1491 c.1365C>T c.(1363-1365)TTC>TTT p.F455F ZNF700_uc010xme.1_Silent_p.F473F|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 455 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAAAGCCTTCAGATCTACCT 0.488 NaN 0 0 0 0.012319 0 23 94 BRD4 23476 broad.mit.edu 37 19 15367816 15367816 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:15367816C>T uc002nar.2 - 8 1732 c.1510G>A c.(1510-1512)GAG>AAG p.E504K BRD4_uc002nas.2_Missense_Mutation_p.E504K|BRD4_uc002nat.3_Missense_Mutation_p.E504K|BRD4_uc002nau.3_Missense_Mutation_p.E504K NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 504 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CGCTCCTCCTCAGAGTCATCA 0.647 NaN T NUT|C15orf55 lethal midline carcinoma of young people 0 0 0 0.009096 0 3 3 CHERP 10523 broad.mit.edu 37 19 16633881 16633881 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:16633881C>T uc002nei.1 - 11 2036 c.1962G>A c.(1960-1962)CTG>CTA p.L654L MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.L193L NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 654 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GGGGGGCCATCAGCCCAGCAG 0.617 NaN 0 0 0 0.013537 0 13 64 CHERP 10523 broad.mit.edu 37 19 16634026 16634026 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:16634026C>G uc002nei.1 - 11 1891 c.1817G>C c.(1816-1818)GGA>GCA p.G606A MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.G145A NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 606 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GTGCTGGGGTCCAGCCCAAGG 0.662 NaN 0 0 0 0.004007 0 14 82 CHERP 10523 broad.mit.edu 37 19 16640540 16640540 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:16640540C>T uc002nei.1 - 8 1122 c.1048G>A c.(1048-1050)GAA>AAA p.E350K MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 350 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GCCTTGACTTCAGCCTCCATC 0.562 NaN 0 0 0 0.00308 0 6 4 MYO9B 4650 broad.mit.edu 37 19 17213295 17213295 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:17213295C>G uc010eak.2 + 2 920 c.768C>G c.(766-768)CTC>CTG p.L256L MYO9B_uc002nfi.2_Silent_p.L256L|MYO9B_uc002nfj.1_Silent_p.L256L NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 256 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 TCCACTGCCTCACCGCCCTCA 0.642 NaN 0 0 0 0.004482 0 8 20 ABHD8 79575 broad.mit.edu 37 19 17405304 17405304 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:17405304G>A uc002ngb.3 - 4 1182 c.942C>T c.(940-942)TTC>TTT p.F314F NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 314 hydrolase activity 0 CTTGGCGGGCGAAGCCGGCCC 0.647 NaN 0 0 0 0.001855 0 12 94 ANO8 57719 broad.mit.edu 37 19 17440786 17440786 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:17440786G>A uc002ngf.2 - 11 1470 c.1311C>T c.(1309-1311)CTC>CTT p.L437L ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 437 Extracellular (Potential).|Leu-rich. chloride channel complex chloride channel activity ovary(3) 3 CTTTGATGATGAGGTGCTTCT 0.622 NaN 0 0 0 0.003163 0 15 88 PDE4C 5143 broad.mit.edu 37 19 18321950 18321950 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:18321950G>C uc010xqc.1 - 15 2408 c.1928C>G c.(1927-1929)TCA>TGA p.S643* PDE4C_uc002nik.3_Nonsense_Mutation_p.S643*|PDE4C_uc002nil.3_Nonsense_Mutation_p.S643*|PDE4C_uc002nif.3_Nonsense_Mutation_p.S412*|PDE4C_uc002nig.3_Nonsense_Mutation_p.S358*|PDE4C_uc002nih.3_Nonsense_Mutation_p.S413*|PDE4C_uc010ebk.2_Nonsense_Mutation_p.S537*|PDE4C_uc002nii.3_Nonsense_Mutation_p.S611*|PDE4C_uc010ebl.2_Nonsense_Mutation_p.S357* NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 643 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) GGTGAGGTCTGAGGGACTTCG 0.468 NaN 0 0 0 0.001855 0 12 127 UPF1 5976 broad.mit.edu 37 19 18963840 18963840 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:18963840G>A uc002nkg.2 + 7 1292 c.1017G>A c.(1015-1017)AAG>AAA p.K339K UPF1_uc002nkf.2_Silent_p.K339K NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 339 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCCTTAACAAGAAGAGAATCG 0.453 NaN 0 0 0 0.01441 0 54 101 SFRS14 10147 broad.mit.edu 37 19 19135806 19135806 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:19135806C>G uc002nkx.2 - 3 1497 c.1351G>C c.(1351-1353)GAG>CAG p.E451Q SFRS14_uc002nkz.1_Missense_Mutation_p.E465Q|SFRS14_uc002nla.1_Missense_Mutation_p.E451Q|SFRS14_uc002nlb.2_Missense_Mutation_p.E451Q|SFRS14_uc010xqk.1_Missense_Mutation_p.E220Q NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 451 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) ACACTTAGCTCGTAGGCATTG 0.473 NaN 0 0 0 0.007835 0 42 253 SF4 57794 broad.mit.edu 37 19 19431303 19431303 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:19431303C>T uc002nmh.2 - 1 5 c.3G>A c.(1-3)ATG>ATA p.M1I SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA|KIAA0892_uc002nmk.3_5'Flank NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 1 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 TCTTGAGACTCATCCAATCCC 0.612 NaN 0 0 0 0.005443 0 29 84 GATAD2A 54815 broad.mit.edu 37 19 19612021 19612021 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:19612021G>A uc010xqt.1 + 9 1608 c.1296G>A c.(1294-1296)AAG>AAA p.K432K GATAD2A_uc010xqu.1_Silent_p.K61K|GATAD2A_uc010xqv.1_Silent_p.K452K|GATAD2A_uc010xqw.1_Silent_p.K260K NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 432 GATA-type. DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGGAGGAGAAGAGCGGCGCCA 0.622 NaN 0 0 0 0.00308 0 7 44 ZNF737 100129842 broad.mit.edu 37 19 20728335 20728335 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:20728335C>G uc002npa.2 - 4 854 c.674G>C c.(673-675)GGA>GCA p.G225A NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 225 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CCGTTTCTCTCCAGTATGAAT 0.403 NaN 0 0 0 0.004672 0 3 56 KIAA0355 9710 broad.mit.edu 37 19 34818939 34818939 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:34818939G>A uc002nvd.3 + 6 1846 c.987G>A c.(985-987)CAG>CAA p.Q329Q NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 329 ovary(1) 1 Esophageal squamous(110;0.162) GGCGGAGGCAGACACCCCCGC 0.617 NaN 0 0 0 0.009718 0 42 107 LSR 51599 broad.mit.edu 37 19 35758034 35758034 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:35758034C>G uc002nyl.2 + 9 1534 c.1311C>G c.(1309-1311)CTC>CTG p.L437L LSR_uc002nym.2_Silent_p.L418L|LSR_uc002nyn.2_Silent_p.L369L|LSR_uc002nyo.2_Silent_p.L417L|LSR_uc010xsr.1_Silent_p.L329L|LSR_uc002nyp.2_Silent_p.L379L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 437 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCACCTCCCTCCACGAGGACG 0.682 NaN 0 0 0 0.001984 0 6 33 WDR62 284403 broad.mit.edu 37 19 36591653 36591653 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:36591653G>A uc002odc.2 + 23 2834 c.2743G>A c.(2743-2745)GAG>AAG p.E915K WDR62_uc002odd.2_Missense_Mutation_p.E915K NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 915 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCATAGTCAGAGAGTCCCCA 0.627 NaN 0 0 0 0.010504 0 17 103 ZFP82 284406 broad.mit.edu 37 19 36884578 36884578 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:36884578C>T uc002ody.1 - 5 899 c.664G>A c.(664-666)GGT>AGT p.G222S NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 AGTTTTTCACCAGAATGAAGT 0.413 NaN 0 0 0 0.007291 0 29 118 ZNF829 374899 broad.mit.edu 37 19 37382767 37382767 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:37382767G>C uc002ofa.1 - 6 1288 c.926C>G c.(925-927)TCA>TGA p.S309* ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 309 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATAAGCCTTGAGTGTTGAGT 0.383 NaN 0 0 0 0.00499 0 18 216 ZNF527 84503 broad.mit.edu 37 19 37880276 37880276 + Missense_Mutation SNP T T A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:37880276T>A uc010efk.1 + 5 1436 c.1325T>A c.(1324-1326)TTC>TAC p.F442Y ZNF527_uc002ogf.3_Missense_Mutation_p.F410Y|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 442 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGAAACCCTTCAAATGTAGT 0.428 NaN 0 0 0 0.001984 0 7 249 ZNF607 84775 broad.mit.edu 37 19 38190458 38190458 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:38190458G>T uc002ohc.1 - 5 1170 c.574C>A c.(574-576)CAT>AAT p.H192N ZNF607_uc002ohb.1_Missense_Mutation_p.H191N NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 192 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TTCTCAACATGAACTTTCCCA 0.393 NaN 1 0 4.10826e-27 0.01441 4.35021e-27 51 646 FCGBP 8857 broad.mit.edu 37 19 40408603 40408603 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:40408603G>C uc002omp.3 - 8 4244 c.4236C>G c.(4234-4236)GCC>GCG p.A1412A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1412 VWFD 3. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGAACTCATTGGCGTTGCCTG 0.632 NaN 0 0 0 0.00499 0 16 44 PSMC4 5704 broad.mit.edu 37 19 40480725 40480725 + Silent SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:40480725T>C uc002omq.2 + 6 700 c.663T>C c.(661-663)CAT>CAC p.H221H PSMC4_uc002omr.2_Silent_p.H190H NM_006503 NP_006494 P43686 PRS6B_HUMAN proteasome 26S ATPase subunit 4 isoform 1 221 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding ovary(1) 1 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CGGTGGCACATCACACAACAG 0.597 NaN 0 0 0 0.006214 0 8 29 BCKDHA 593 broad.mit.edu 37 19 41884361 41884361 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:41884361C>T uc002oqm.3 + 2 498 c.147C>T c.(145-147)TTC>TTT p.F49F CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Silent_p.F49F|TMEM91_uc010ehq.2_Silent_p.F49F|TMEM91_uc002oql.2_Silent_p.F49F|TMEM91_uc010ehr.2_Silent_p.F49F|TMEM91_uc010ehs.2_Silent_p.F49F|TMEM91_uc010eht.2_Silent_p.F49F|TMEM91_uc002oqk.3_Silent_p.F49F|TMEM91_uc002oqn.2_Silent_p.F49F NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha Error:Variant_position_missing_in_P12694_after_alignment branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 GTTTGCAGTTCCTGTCACCGC 0.617 NaN 0 0 0 0.008871 0 19 41 CEACAM5 1048 broad.mit.edu 37 19 42213827 42213827 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:42213827G>T uc002ork.2 + 2 414 c.293G>T c.(292-294)CGA>CTA p.R98L CEACAM5_uc010ehz.1_Missense_Mutation_p.R98L|CEACAM5_uc002orj.1_Missense_Mutation_p.R98L|CEACAM5_uc002orl.2_Missense_Mutation_p.R98L NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 98 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TACAGTGGTCGAGAGATAATA 0.448 NaN 1 0 3.21399e-22 0.004878 3.38295e-22 39 229 GSK3A 2931 broad.mit.edu 37 19 42744116 42744116 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:42744116C>G uc002otb.1 - 2 581 c.462G>C c.(460-462)AAG>AAC p.K154N GSK3A_uc002ota.1_Missense_Mutation_p.K72N|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 154 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) CCTTGAACCTCTTGTCCTGGA 0.567 NaN 0 0 0 0.000602 0 5 33 ERCC2 2068 broad.mit.edu 37 19 45873455 45873455 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 T C T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:45873455T>C uc002pbj.2 - 2 88 c.41A>G c.(40-42)TAC>TGC p.Y14C ERCC2_uc010ejz.2_Missense_Mutation_p.Y14C|ERCC2_uc002pbk.2_5'UTR|ERCC2_uc002pbl.3_5'UTR|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 14 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GATGTAGTCGTACGGGAAGTA 0.682 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.001168 0 4 27 PPP1R13L 10848 broad.mit.edu 37 19 45899596 45899596 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:45899596G>A uc002pbn.2 - 5 888 c.811C>T c.(811-813)CGC>TGC p.R271C PPP1R13L_uc002pbo.2_Missense_Mutation_p.R271C|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R271C NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 271 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CACCACTCACGTTCATAGCTC 0.652 NaN 0 0 0 0.004007 0 15 41 FAM83E 54854 broad.mit.edu 37 19 49116416 49116416 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:49116416C>T uc002pjn.2 - 1 279 c.214G>A c.(214-216)GAA>AAA p.E72K NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 72 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GTCCAGTCTTCAGCTGCCGCT 0.672 NaN 0 0 0 0.006122 0 15 8 PPP1R15A 23645 broad.mit.edu 37 19 49377076 49377076 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:49377076G>A uc002pky.3 + 2 855 c.586G>A c.(586-588)GAA>AAA p.E196K NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 196 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GGAGGACGATGAAGAAGCTGT 0.532 NaN 0 0 0 0.00623 0 40 56 GYS1 2997 broad.mit.edu 37 19 49481249 49481249 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:49481249G>A uc002plp.2 - 10 1481 c.1240C>T c.(1240-1242)CCC>TCC p.P414S GYS1_uc010xzy.1_Missense_Mutation_p.P47S|GYS1_uc010emm.2_Missense_Mutation_p.P350S|GYS1_uc010xzz.1_Missense_Mutation_p.P334S|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 414 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TTCATGTCGGGAAGGCTCCCA 0.542 NaN 0 0 0 0.01441 0 66 89 HRC 3270 broad.mit.edu 37 19 49658329 49658329 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:49658329C>T uc002pmv.2 - 1 353 c.166G>A c.(166-168)GAG>AAG p.E56K TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 56 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TGGCGAAGCTCTGCTGATGCC 0.597 NaN 0 0 0 0.01441 0 58 121 ZNF320 162967 broad.mit.edu 37 19 53383882 53383882 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:53383882G>A uc002qag.2 - 4 1688 c.1497C>T c.(1495-1497)TGC>TGT p.C499C ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.C445C|ZNF320_uc002qai.2_Silent_p.C499C NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TATACTCATTGCACTTGAAAC 0.368 NaN 0 0 0 0.004656 0 22 140 ZNF816A 125893 broad.mit.edu 37 19 53454109 53454109 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:53454109G>A uc002qal.1 - 5 1220 c.919C>T c.(919-921)CAT>TAT p.H307Y ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H291Y NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 307 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TCTCCAGTATGAAGTCTACGA 0.428 NaN 0 0 0 0.01441 0 152 185 ZNF160 90338 broad.mit.edu 37 19 53573363 53573363 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:53573363C>G uc010eqk.2 - 7 840 c.424G>C c.(424-426)GAG>CAG p.E142Q ZNF160_uc002qaq.3_Missense_Mutation_p.E142Q|ZNF160_uc002qar.3_Missense_Mutation_p.E142Q NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 142 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) CATTGACACTCAAAATCATGC 0.423 NaN 0 0 0 0.01441 0 125 154 RPS9 6203 broad.mit.edu 37 19 54705081 54705081 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:54705081G>C uc002qdx.2 + 2 85 c.29G>C c.(28-30)CGC>CCC p.R10P RPS9_uc002qdy.2_Missense_Mutation_p.R10P|RPS9_uc002qdz.2_Missense_Mutation_p.R10P|RPS9_uc002qea.2_Missense_Mutation_p.R10P|RPS9_uc002qeb.2_Missense_Mutation_p.R10P|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Missense_Mutation_p.R10P NM_001013 NP_001004 P46781 RS9_HUMAN ribosomal protein S9 10 endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity breast(1) 1 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.18) TGGGTTTGTCGCAAAACTTAT 0.617 NaN 0 0 0 0.00278 0 22 48 TNNI3 7137 broad.mit.edu 37 19 55667621 55667621 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:55667621C>T uc002qjg.3 - 5 230 c.230G>A c.(229-231)AGC>AAC p.S77N TNNI3_uc010yft.1_Missense_Mutation_p.S69N NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 77 Involved in binding TNC. cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GCAGCGGGTGCTCAGAGCGCG 0.657 NaN 0 0 0 0.000602 0 4 16 ZNF460 10794 broad.mit.edu 37 19 57802811 57802811 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:57802811G>C uc002qog.2 + 3 1224 c.902G>C c.(901-903)AGC>ACC p.S301T ZNF460_uc010ygv.1_Missense_Mutation_p.S260T NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 301 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATAACAAGAGCCACAATGAG 0.473 NaN 0 0 0 0.014323 0 22 141 ZSCAN1 284312 broad.mit.edu 37 19 58565117 58565117 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:58565117G>A uc002qrc.1 + 6 1172 c.925G>A c.(925-927)GAG>AAG p.E309K NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 309 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCACTTCATCGAGCACCAGAA 0.627 NaN 0 0 0 0.003954 0 25 39 SLC27A5 10998 broad.mit.edu 37 19 59011983 59011983 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:59011983G>A uc002qtc.2 - 5 1383 c.1273C>T c.(1273-1275)CCT>TCT p.P425S SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 425 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) ATCCGAATAGGACCGAAGCGC 0.587 NaN 0 0 0 0.004289 0 35 48 GREB1 9687 broad.mit.edu 37 2 11765299 11765299 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:11765299C>T uc002rbk.1 + 24 4467 c.4167C>T c.(4165-4167)GAC>GAT p.D1389D GREB1_uc002rbp.1_Silent_p.D387D NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1389 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AAGAATCTGACTGGCATTATC 0.378 NaN 0 0 0 0.00623 0 41 263 GREB1 9687 broad.mit.edu 37 2 11774306 11774306 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:11774306C>T uc002rbk.1 + 29 5341 c.5041C>T c.(5041-5043)CAC>TAC p.H1681Y GREB1_uc002rbp.1_Missense_Mutation_p.H679Y NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1681 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CATCATGCAGCACATCGAGGC 0.622 NaN 0 0 0 0.006122 0 17 111 RAD51AP2 729475 broad.mit.edu 37 2 17699508 17699508 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:17699508C>T uc002rcl.1 - 1 199 c.175G>A c.(175-177)GAG>AAG p.E59K RAD51AP2_uc010exn.1_Missense_Mutation_p.E50K NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 59 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTTCCGCCTCAGACAAGCGA 0.547 NaN 0 0 0 0.006999 0 40 124 VSNL1 7447 broad.mit.edu 37 2 17773477 17773477 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:17773477G>C uc002rcm.2 + 2 520 c.136G>C c.(136-138)GAG>CAG p.E46Q NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 46 EF-hand 1. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCTAAATCTCGAGGAATTTCA 0.428 NaN 0 0 0 0.012213 0 30 209 PUM2 23369 broad.mit.edu 37 2 20451400 20451400 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:20451400C>T uc002rds.1 - 20 3164 c.3141G>A c.(3139-3141)TTG>TTA p.L1047L PUM2_uc002rdq.1_Silent_p.L426L|PUM2_uc002rdt.1_Silent_p.L1047L|PUM2_uc002rdr.2_Silent_p.L907L|PUM2_uc010yjy.1_Silent_p.L968L|PUM2_uc002rdu.1_Silent_p.L1047L|PUM2_uc010yjz.1_Silent_p.L986L NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 1049 regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTATTCTTCAAATAATACT 0.378 NaN 0 0 0 0.01441 0 84 219 KIF3C 3797 broad.mit.edu 37 2 26204414 26204414 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:26204414C>T uc002rgu.2 - 1 1030 c.373G>A c.(373-375)GAG>AAG p.E125K KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E125K NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 125 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGATGTGCTCAAAGGCATTC 0.592 NaN 0 0 0 0.006122 0 19 114 GTF3C2 2976 broad.mit.edu 37 2 27566319 27566319 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:27566319C>T uc002rjv.1 - 3 466 c.103G>A c.(103-105)GAT>AAT p.D35N GTF3C2_uc002rju.1_Missense_Mutation_p.D46N|GTF3C2_uc002rjw.1_Missense_Mutation_p.D35N|GTF3C2_uc010eyz.1_Missense_Mutation_p.D35N NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 35 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCTTGACATCAAGCTGATTT 0.547 NaN 0 0 0 0.01441 0 82 199 PPM1G 5496 broad.mit.edu 37 2 27609992 27609992 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:27609992C>T uc002rkl.2 - 3 261 c.154G>A c.(154-156)GAG>AAG p.E52K PPM1G_uc002rkm.2_5'UTR NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 52 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) ATGGCTGTCTCACTGTCCAGC 0.448 NaN 0 0 0 0.005524 0 31 56 XDH 7498 broad.mit.edu 37 2 31572632 31572632 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:31572632G>A uc002rnv.1 - 26 2968 c.2889C>T c.(2887-2889)TTC>TTT p.F963F NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 963 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGGGCAAGGTGAAACCCTCAA 0.498 NaN 0 0 0 0.01441 0 52 202 SPAST 6683 broad.mit.edu 37 2 32289086 32289086 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:32289086G>C uc002roc.2 + 1 407 c.186G>C c.(184-186)GCG>GCC p.A62A SPAST_uc002rod.2_Silent_p.A62A NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 62 Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TAGGCTTCGCGCTGCTGCGTT 0.502 NaN 0 0 0 0.00308 0 7 15 SLC30A6 55676 broad.mit.edu 37 2 32419049 32419049 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:32419049G>A uc002roe.1 + 8 530 c.493G>A c.(493-495)GAA>AAA p.E165K SLC30A6_uc002rof.1_Missense_Mutation_p.E205K|SLC30A6_uc010ymw.1_Missense_Mutation_p.E136K|SLC30A6_uc010ezr.1_Missense_Mutation_p.E165K|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Missense_Mutation_p.E91K|SLC30A6_uc002roh.1_5'UTR NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 165 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTATGTCTCAGAAGGTATGTT 0.313 NaN 0 0 0 0.004656 0 27 187 BIRC6 57448 broad.mit.edu 37 2 32740283 32740283 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:32740283G>A uc010ezu.2 + 55 10929 c.10795G>A c.(10795-10797)GCA>ACA p.A3599T NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3599 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTCTAAAAATGCACAAGCACC 0.408 NaN 0 0 0 0.013537 0 12 104 RASGRP3 25780 broad.mit.edu 37 2 33745672 33745672 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:33745672C>A uc002rox.2 + 7 916 c.289C>A c.(289-291)CGT>AGT p.R97S RASGRP3_uc010ync.1_Missense_Mutation_p.R97S|RASGRP3_uc002roy.2_Missense_Mutation_p.R97S NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 97 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TGGTTTGATTCGTATGACTGA 0.423 NaN 1 0 5.10652e-33 0.01441 5.4203e-33 65 333 GALM 130589 broad.mit.edu 37 2 38893363 38893363 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:38893363G>A uc002rqy.2 + 1 312 c.60G>A c.(58-60)GAG>GAA p.E20E NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 20 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) GGACAGTGGAGAAGTTCCAGC 0.597 NaN 0 0 0 0.003163 0 16 45 DHX57 90957 broad.mit.edu 37 2 39042771 39042771 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:39042771G>A uc002rrf.2 - 20 3597 c.3498C>T c.(3496-3498)TTC>TTT p.F1166F DHX57_uc002rrd.3_Silent_p.F550F|DHX57_uc002rre.2_Silent_p.F599F NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1166 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) ACAGTTCCGTGAATTGTCGTT 0.443 NaN 0 0 0 0.01441 0 46 116 THADA 63892 broad.mit.edu 37 2 43458299 43458299 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:43458299G>A uc002rsw.3 - 38 6002 c.5650C>T c.(5650-5652)CAG>TAG p.Q1884* THADA_uc010far.2_Nonsense_Mutation_p.Q1079*|THADA_uc002rsx.3_Nonsense_Mutation_p.Q1884*|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1884 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTGAAGAACTGAGACAGGAGG 0.532 NaN 0 0 0 0.013537 0 12 28 TTC7A 57217 broad.mit.edu 37 2 47249004 47249004 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:47249004G>A uc002rvo.2 + 12 1764 c.1396G>A c.(1396-1398)GAG>AAG p.E466K TTC7A_uc002rvm.2_Missense_Mutation_p.E432K|TTC7A_uc002rvn.1_Missense_Mutation_p.E347K|TTC7A_uc010fbb.2_Missense_Mutation_p.E466K|TTC7A_uc010fbc.2_Missense_Mutation_p.E112K|TTC7A_uc002rvp.2_Missense_Mutation_p.E347K|TTC7A_uc002rvq.2_Missense_Mutation_p.E206K|TTC7A_uc002rvr.2_Intron NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 466 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TTTGCAGCTAGAGGAAGCAGA 0.562 NaN 0 0 0 0.004878 0 38 99 XPO1 7514 broad.mit.edu 37 2 61710158 61710158 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:61710158G>C uc002sbj.2 - 22 3474 c.2746C>G c.(2746-2748)CAA>GAA p.Q916E XPO1_uc010fcl.2_Missense_Mutation_p.Q912E|XPO1_uc010ypn.1_Missense_Mutation_p.Q912E|XPO1_uc002sbk.2_Missense_Mutation_p.Q477E|XPO1_uc002sbg.2_Missense_Mutation_p.Q113E|XPO1_uc002sbh.2_Missense_Mutation_p.Q563E NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 916 HEAT 8. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AAATAAGTTTGATAAAAACTC 0.333 NaN 0 0 0 0.005524 0 39 97 PELI1 57162 broad.mit.edu 37 2 64335432 64335432 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:64335432C>T uc002scs.3 - 1 4052 c.13G>A c.(13-15)GAT>AAT p.D5N PELI1_uc002sct.3_Missense_Mutation_p.D5N|PELI1_uc002scu.1_5'Flank NM_020651 NP_065702 Q96FA3 PELI1_HUMAN pellino protein 5 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ovary(1) 1 TTTTCTTGATCAGGAGAAAAC 0.383 NaN 0 0 0 0.01441 0 72 177 NAGK 55577 broad.mit.edu 37 2 71298938 71298938 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:71298938C>T uc002shp.3 + 4 742 c.336C>T c.(334-336)ATC>ATT p.I112I NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_Silent_p.I61I NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 112 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) CCGGCTCCATCGCCACAGCTA 0.547 NaN 0 0 0 0.009096 0 3 42 CCDC142 84865 broad.mit.edu 37 2 74708006 74708006 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:74708006G>A uc002slr.2 - 5 1786 c.1393C>T c.(1393-1395)CTG>TTG p.L465L TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L458L|CCDC142_uc002slp.2_Silent_p.L465L NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 465 central_nervous_system(1) 1 TCATGCAACAGAGGCTTTGGG 0.572 NaN 0 0 0 0.00623 0 39 100 LRRTM1 347730 broad.mit.edu 37 2 80529640 80529640 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:80529640G>A uc002sok.1 - 2 1575 c.1305C>T c.(1303-1305)CTC>CTT p.L435L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 435 Helical; (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AGGAGAAGATGAGGGCCATGG 0.622 NaN HNSCC(69;0.2) 0 0 0 0.010504 0 20 45 C2orf89 129293 broad.mit.edu 37 2 85097505 85097505 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:85097505C>T uc010ysl.1 - 2 602 c.513G>A c.(511-513)ATG>ATA p.M171I C2orf89_uc002sou.3_Missense_Mutation_p.M171I|C2orf89_uc010fgc.1_Missense_Mutation_p.M171I NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 171 Extracellular (Potential). integral to membrane ovary(1) 1 GGGAGTTGACCATGAGCATCA 0.582 NaN 0 0 0 0.01441 0 54 135 GGCX 2677 broad.mit.edu 37 2 85777223 85777223 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:85777223C>T uc002sps.2 - 15 2217 c.2111G>A c.(2110-2112)CGA>CAA p.R704Q GGCX_uc010yss.1_Missense_Mutation_p.R520Q|GGCX_uc010yst.1_Missense_Mutation_p.R647Q NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 704 Lumenal (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) TATCAGATTTCGAAGTGAGAT 0.463 NaN 0 0 0 0.003954 0 21 77 USP39 10713 broad.mit.edu 37 2 85857963 85857963 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:85857963G>A uc002sqe.2 + 6 879 c.843G>A c.(841-843)ATG>ATA p.M281I USP39_uc002sqb.2_Missense_Mutation_p.M12I|USP39_uc010ysu.1_Missense_Mutation_p.M203I|USP39_uc010ysv.1_Missense_Mutation_p.M178I|USP39_uc010fgn.1_Missense_Mutation_p.M281I|USP39_uc002sqf.2_Missense_Mutation_p.M281I|USP39_uc002sqg.2_Missense_Mutation_p.M281I|USP39_uc010fgo.2_Missense_Mutation_p.M281I NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN ubiquitin specific protease 39 281 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1) 1 GAGAGCTGATGAGAAAGCTCT 0.448 NaN 0 0 0 0.01441 0 89 216 CD8A 925 broad.mit.edu 37 2 87017667 87017667 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:87017667C>T uc002srt.2 - 2 1076 c.187G>A c.(187-189)GCC>ACC p.A63T RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A63T|CD8A_uc010ytn.1_Missense_Mutation_p.A104T|CD8A_uc002sru.2_Missense_Mutation_p.A63T NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 63 Ig-like V-type.|Extracellular (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 CTGGCGGCGGCGCCGCGCGGC 0.672 NaN 0 0 0 0.014323 0 23 36 ZNF514 84874 broad.mit.edu 37 2 95815496 95815496 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:95815496G>A uc002sue.1 - 5 1108 c.734C>T c.(733-735)TCA>TTA p.S245L ZNF514_uc002sud.1_Missense_Mutation_p.S318L NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 245 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATAAGGGATGAAATATGACC 0.458 NaN 0 0 0 0.01441 0 78 172 ITPRIPL1 150771 broad.mit.edu 37 2 96992597 96992597 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:96992597G>A uc002svx.2 + 3 563 c.228G>A c.(226-228)TGG>TGA p.W76* ITPRIPL1_uc010yuk.1_Nonsense_Mutation_p.W68*|ITPRIPL1_uc002svy.2_Nonsense_Mutation_p.W84*|ITPRIPL1_uc010yul.1_Nonsense_Mutation_p.W68* NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 76 Extracellular (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 AGAACTTCTGGACAGGAGACA 0.577 NaN 0 0 0 0.012213 0 32 77 ARID5A 10865 broad.mit.edu 37 2 97217382 97217382 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:97217382G>C uc002swe.2 + 7 1217 c.1117G>C c.(1117-1119)GGG>CGG p.G373R ARID5A_uc010yuq.1_Missense_Mutation_p.G321R|ARID5A_uc002swf.2_Missense_Mutation_p.G209R|ARID5A_uc002swg.2_Missense_Mutation_p.G321R NM_212481 NP_997646 Q03989 ARI5A_HUMAN AT rich interactive domain 5A 373 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding 0 GGTGCTATTGGGGCCTCCTGG 0.587 NaN 0 0 0 0.004482 0 8 22 FER1L5 90342 broad.mit.edu 37 2 97365766 97365766 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:97365766G>A uc010fia.2 + 43 4960 c.4960G>A c.(4960-4962)GAG>AAG p.E1654K FER1L5_uc002sws.3_Missense_Mutation_p.E372K|FER1L5_uc002swt.3_Missense_Mutation_p.E372K|FER1L5_uc010yus.1_Missense_Mutation_p.E371K NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1654 integral to membrane ovary(1) 1 GTTCAGTCCTGAGGAAGATGC 0.527 NaN 0 0 0 0.007291 0 26 50 COX5B 1329 broad.mit.edu 37 2 98263594 98263594 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:98263594G>A uc002sya.2 + 2 197 c.168G>A c.(166-168)AAG>AAA p.K56K NM_001862 NP_001853 P10606 COX5B_HUMAN cytochrome c oxidase subunit Vb precursor 56 respiratory electron transport chain|respiratory gaseous exchange mitochondrial inner membrane cytochrome-c oxidase activity|metal ion binding 0 TGGCTGCAAAGAAGGGACTGG 0.483 NaN 0 0 0 0.004656 0 26 73 RPL31 6160 broad.mit.edu 37 2 101622467 101622467 + Missense_Mutation SNP G G A rs11551487 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:101622467G>A uc002taq.3 + 4 367 c.280G>A c.(280-282)GAG>AAG p.E94K RPL31_uc002tar.3_Missense_Mutation_p.E94K|RPL31_uc010yvu.1_Missense_Mutation_p.E94K|RPL31_uc010yvv.1_Missense_Mutation_p.E94K|RPL31_uc010fiu.1_Missense_Mutation_p.E94K|RPL31_uc002tas.1_Missense_Mutation_p.E94K|RPL31_uc002tat.1_3'UTR NM_000993 NP_000984 P62899 RL31_HUMAN ribosomal protein L31 isoform 1 94 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 AAAACGTAATGAGGATGAAGA 0.388 NaN 0 0 0 0.003163 0 7 68 RPL31 6160 broad.mit.edu 37 2 101622473 101622473 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:101622473G>A uc002taq.3 + 4 373 c.286G>A c.(286-288)GAA>AAA p.E96K RPL31_uc002tar.3_Missense_Mutation_p.E96K|RPL31_uc010yvu.1_Missense_Mutation_p.E96K|RPL31_uc010yvv.1_Missense_Mutation_p.E96K|RPL31_uc010fiu.1_Missense_Mutation_p.E96K|RPL31_uc002tas.1_Missense_Mutation_p.E96K|RPL31_uc002tat.1_3'UTR NM_000993 NP_000984 P62899 RL31_HUMAN ribosomal protein L31 isoform 1 96 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 TAATGAGGATGAAGATTCACC 0.378 NaN 0 0 0 0.001855 0 5 67 RPL31 6160 broad.mit.edu 37 2 101622476 101622476 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:101622476G>A uc002taq.3 + 4 376 c.289G>A c.(289-291)GAT>AAT p.D97N RPL31_uc002tar.3_Missense_Mutation_p.D97N|RPL31_uc010yvu.1_Missense_Mutation_p.D97N|RPL31_uc010yvv.1_Missense_Mutation_p.D97N|RPL31_uc010fiu.1_Missense_Mutation_p.D97N|RPL31_uc002tas.1_Missense_Mutation_p.D97N|RPL31_uc002tat.1_3'UTR NM_000993 NP_000984 P62899 RL31_HUMAN ribosomal protein L31 isoform 1 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 TGAGGATGAAGATTCACCAAA 0.368 NaN 0 0 0 0.010729 0 5 70 IL18RAP 8807 broad.mit.edu 37 2 103068411 103068411 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:103068411C>T uc002tbx.2 + 12 2054 c.1570C>T c.(1570-1572)CCT>TCT p.P524S IL18RAP_uc010fiz.2_Missense_Mutation_p.P382S NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 524 TIR.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AGAGTCTCTACCTCATCTCGT 0.418 NaN 0 0 0 0.01441 0 81 174 IL18RAP 8807 broad.mit.edu 37 2 103068499 103068499 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:103068499C>A uc002tbx.2 + 12 2142 c.1658C>A c.(1657-1659)GCC>GAC p.A553D IL18RAP_uc010fiz.2_Missense_Mutation_p.A411D NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 553 TIR.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AGGTTCTGGGCCAAAATGCGC 0.463 NaN 1 0 5.72124e-26 0.01441 6.04366e-26 77 171 SLC9A2 6549 broad.mit.edu 37 2 103236427 103236427 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:103236427G>A uc002tca.2 + 1 262 c.120G>A c.(118-120)CCG>CCA p.P40P NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 40 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 TGAACGCGCCGAGGGCCATGG 0.448 NaN 0 0 0 0.009096 0 4 15 GCC2 9648 broad.mit.edu 37 2 109111783 109111783 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:109111783G>C uc002tec.2 + 20 4638 c.4484G>C c.(4483-4485)CGA>CCA p.R1495P GCC2_uc002ted.2_Missense_Mutation_p.R1394P NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1495 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAGAACCTTCGAGAAAGGAGA 0.433 NaN 0 0 0 0.003163 0 15 50 RANBP2 5903 broad.mit.edu 37 2 109398587 109398587 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:109398587G>A uc002tem.3 + 27 8890 c.8764G>A c.(8764-8766)GAA>AAA p.E2922K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2922 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATTATAGGTAGAAGTAAAATC 0.353 NaN 0 0 0 0.013537 0 12 88 ACOXL 55289 broad.mit.edu 37 2 111691109 111691109 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:111691109G>A uc002tgr.3 + 12 1173 c.949G>A c.(949-951)GAG>AAG p.E317K ACOXL_uc010fkc.2_Missense_Mutation_p.E317K|ACOXL_uc010yxk.1_Missense_Mutation_p.E317K NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 317 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 CCAGGGAAAGGAGCTGGTCAA 0.612 NaN 0 0 0 0.001984 0 7 56 ANAPC1 64682 broad.mit.edu 37 2 112592358 112592358 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:112592358G>A uc002thi.2 - 19 2454 c.2207C>T c.(2206-2208)TCA>TTA p.S736L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 736 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 CTTCATCTGTGAAGCTTCTGA 0.383 NaN 0 0 0 0.004007 0 16 70 MERTK 10461 broad.mit.edu 37 2 112733015 112733015 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:112733015G>A uc002thk.1 + 7 1232 c.1110G>A c.(1108-1110)GTG>GTA p.V370V MERTK_uc002thl.1_Silent_p.V194V NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 370 Fibronectin type-III 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GGTCTGCAGTGAGCCCTTGGA 0.483 NaN 0 0 0 0.013114 0 43 97 MERTK 10461 broad.mit.edu 37 2 112779055 112779055 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:112779055A>G uc002thk.1 + 17 2368 c.2246A>G c.(2245-2247)TAC>TGC p.Y749C MERTK_uc002thl.1_Missense_Mutation_p.Y573C NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 749 Protein kinase.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 AAGAAGATTTACAGTGGCGAT 0.483 NaN 0 0 0 0.011902 0 42 122 SLC20A1 6574 broad.mit.edu 37 2 113417182 113417183 + Missense_Mutation DNP GT GT TC TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:113417182_113417183GT>TC uc002tib.2 + 8 1896_1897 c.1450_1451GT>TC c.(1450-1452)GTC>TCC p.V484S SLC20A1_uc002tic.1_Missense_Mutation_p.V296S NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 484 Cytoplasmic (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 AGACATGAGTGTCAAGGCAGAG 0.465 NaN 0 0 0 0.004672 0 89 221 PSD4 23550 broad.mit.edu 37 2 113941019 113941019 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:113941019C>G uc002tjc.2 + 2 1169 c.986C>G c.(985-987)TCC>TGC p.S329C PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.S328C|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 329 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 AAACCACACTCCATCTGCTGG 0.617 NaN 0 0 0 0.001984 0 6 44 PCDP1 200373 broad.mit.edu 37 2 120413990 120413990 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:120413990G>A uc002tmb.2 + 25 2701 c.1609G>A c.(1609-1611)GAG>AAG p.E537K NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 823 cilium calmodulin binding 0 Colorectal(110;0.196) GAAGCTGCTCGAGGAGATGAG 0.473 NaN 0 0 0 0.004482 0 7 40 PTPN4 5775 broad.mit.edu 37 2 120709702 120709702 + Missense_Mutation SNP A A T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:120709702A>T uc002tmf.1 + 19 2581 c.1810A>T c.(1810-1812)AAT>TAT p.N604Y PTPN4_uc010flj.1_Missense_Mutation_p.N317Y|PTPN4_uc010yyr.1_Missense_Mutation_p.N237Y NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 604 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) AGTTCGACCTAATGGTGAGTA 0.284 NaN 0 0 0 0.006122 0 19 142 SAP130 79595 broad.mit.edu 37 2 128750795 128750795 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:128750795G>C uc002tpp.2 - 12 1653 c.1521C>G c.(1519-1521)ATC>ATG p.I507M SAP130_uc002tpn.2_Missense_Mutation_p.I268M|SAP130_uc002tpo.2_Missense_Mutation_p.I252M|SAP130_uc010fmd.2_Missense_Mutation_p.I507M|SAP130_uc002tpq.1_Missense_Mutation_p.I480M NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 507 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CGGAACTGGTGATTGGGGTGT 0.453 NaN 0 0 0 0.013726 0 32 107 R3HDM1 23518 broad.mit.edu 37 2 136389328 136389328 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:136389328G>C uc002tuo.2 + 8 908 c.538G>C c.(538-540)GAT>CAT p.D180H R3HDM1_uc010fni.2_Missense_Mutation_p.D178H|R3HDM1_uc002tup.2_Missense_Mutation_p.D124H|R3HDM1_uc010zbh.1_Missense_Mutation_p.D12H NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 180 R3H. nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) AGAAATTTTAGATTTCATTGG 0.323 NaN 0 0 0 0.009535 0 30 43 DARS 1615 broad.mit.edu 37 2 136682034 136682034 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:136682034G>A uc002tux.1 - 8 783 c.599C>T c.(598-600)TCT>TTT p.S200F DARS_uc010fnj.1_Missense_Mutation_p.S100F NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 200 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GCAGATGCCAGACTGGAGACG 0.358 NaN 0 0 0 0.005443 0 26 36 NMI 9111 broad.mit.edu 37 2 152127234 152127234 + Silent SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:152127234T>C uc002txi.2 - 8 1227 c.897A>G c.(895-897)CAA>CAG p.Q299Q NM_004688 NP_004679 Q13287 NMI_HUMAN N-myc and STAT interactor 299 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity 0 BRCA - Breast invasive adenocarcinoma(221;0.0571) CTATGTGAGGTTGACCTAGAG 0.348 NaN 0 0 0 0.01441 0 50 82 RIF1 55183 broad.mit.edu 37 2 152293454 152293454 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:152293454C>T uc002txm.2 + 12 1439 c.1309C>T c.(1309-1311)CAT>TAT p.H437Y RIF1_uc002txl.2_Missense_Mutation_p.H437Y|RIF1_uc010fnv.1_Missense_Mutation_p.H401Y|RIF1_uc002txn.2_Missense_Mutation_p.H437Y|RIF1_uc002txo.2_Missense_Mutation_p.H437Y|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 437 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATGTTGCTTCATTTCTTGTT 0.398 NaN 0 0 0 0.003163 0 14 54 KCNH7 90134 broad.mit.edu 37 2 163236516 163236516 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:163236516C>T uc002uch.1 - 14 3190 c.2978G>A c.(2977-2979)CGA>CAA p.R993Q NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 993 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTCCCAGCTTCGCATGTCAGT 0.488 NaN 0 0 0 0.01441 0 77 87 XIRP2 129446 broad.mit.edu 37 2 168105892 168105892 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:168105892A>G uc002udx.2 + 8 8008 c.7990A>G c.(7990-7992)AGG>GGG p.R2664G XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2489G|XIRP2_uc010fpq.2_Missense_Mutation_p.R2442G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R10G NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2489 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACAAAGCTCAAGGGACATTAT 0.408 NaN 0 0 0 0.00333 0 26 58 XIRP2 129446 broad.mit.edu 37 2 168106305 168106305 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:168106305C>T uc002udx.2 + 8 8421 c.8403C>T c.(8401-8403)CCC>CCT p.P2801P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2626P|XIRP2_uc010fpq.2_Silent_p.P2579P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.P147P NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2626 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGATGGTTCCCAGGAAGCAAA 0.403 NaN 0 0 0 0.013537 0 12 62 CHN1 1123 broad.mit.edu 37 2 175742603 175742603 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:175742603C>A uc002uji.2 - 6 1044 c.514G>T c.(514-516)GAT>TAT p.D172Y CHN1_uc010zeq.1_Missense_Mutation_p.D172Y|CHN1_uc002ujj.2_Intron NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 172 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) CCTGTAGAATCTCTCTCATCA 0.398 NaN T TAF15 extraskeletal myxoid chondrosarcoma 1 0 8.10497e-08 0.010504 8.35144e-08 21 82 TTN 7273 broad.mit.edu 37 2 179399128 179399128 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:179399128A>G uc010zfg.1 - 307 94734 c.94510T>C c.(94510-94512)TGG>CGG p.W31504R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W25199R|TTN_uc010zfi.1_Missense_Mutation_p.W25132R|TTN_uc010zfj.1_Missense_Mutation_p.W25007R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32431 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) TGCTTCAACCATGGGTGCTGG 0.428 NaN 0 0 0 0.00623 0 36 73 TTN 7273 broad.mit.edu 37 2 179401935 179401935 + Missense_Mutation SNP C C T rs72648278 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:179401935C>T uc010zfg.1 - 305 92421 c.92197G>A c.(92197-92199)GAA>AAA p.E30733K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24428K|TTN_uc010zfi.1_Missense_Mutation_p.E24361K|TTN_uc010zfj.1_Missense_Mutation_p.E24236K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31660 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) AATAGAGCTTCGATCACAATT 0.428 NaN 0 0 0 0.000602 0 4 30 TTN 7273 broad.mit.edu 37 2 179464127 179464127 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:179464127G>A uc010zfg.1 - 239 48913 c.48689C>T c.(48688-48690)TCA>TTA p.S16230L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9925L|TTN_uc010zfi.1_Missense_Mutation_p.S9858L|TTN_uc010zfj.1_Missense_Mutation_p.S9733L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17157 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) TTGATCTGCTGAAACAGATTC 0.383 NaN 0 0 0 0.012319 0 20 58 TTN 7273 broad.mit.edu 37 2 179604209 179604209 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:179604209C>G uc010zfh.1 - 46 13462 c.13238G>C c.(13237-13239)GGT>GCT p.G4413A TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G4346A|TTN_uc010zfj.1_Missense_Mutation_p.G4221A|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) CTCCTCAGTACCACTTTCAGA 0.453 NaN 0 0 0 0.01441 0 46 61 ANKAR 150709 broad.mit.edu 37 2 190559783 190559783 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:190559783G>A uc002uqw.1 + 5 1171 c.1171G>A c.(1171-1173)GAA>AAA p.E391K ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 462 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AGCCATAAATGAAATAGTGAA 0.318 NaN 0 0 0 0.005524 0 33 31 SDPR 8436 broad.mit.edu 37 2 192700708 192700708 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:192700708C>G uc002utb.2 - 2 1549 c.1219G>C c.(1219-1221)GAG>CAG p.E407Q NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 407 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TCGGAGCGCTCCGCCTCCTCG 0.617 NaN 0 0 0 0.005443 0 28 73 SDPR 8436 broad.mit.edu 37 2 192700978 192700978 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:192700978C>G uc002utb.2 - 2 1279 c.949G>C c.(949-951)GAC>CAC p.D317H NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 317 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CTAGGCAGGTCTTCTGACTTG 0.552 NaN 0 0 0 0.01441 0 74 127 SDPR 8436 broad.mit.edu 37 2 192701111 192701111 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:192701111C>G uc002utb.2 - 2 1146 c.816G>C c.(814-816)AAG>AAC p.K272N NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 272 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGAGAGATTTCTTAATCTTCT 0.458 NaN 0 0 0 0.01441 0 174 332 PGAP1 80055 broad.mit.edu 37 2 197791211 197791211 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:197791211C>T uc002utw.2 - 1 244 c.130G>A c.(130-132)GAG>AAG p.E44K PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.E44K|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 44 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 TCCGGGTACTCAAACATGTAG 0.547 NaN 0 0 0 0.01441 0 179 145 MOBKL3 25843 broad.mit.edu 37 2 198380840 198380840 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:198380840G>A uc002uun.3 + 1 70 c.30G>A c.(28-30)CTG>CTA p.L10L MOBKL3_uc002uum.3_Intron|MOBKL3_uc010fsn.2_Silent_p.L10L|MOBKL3_uc010fso.2_5'UTR|MOBKL3_uc010zgz.1_5'UTR NM_015387 NP_056202 Q9Y3A3 MOBL3_HUMAN Mps One Binder kinase activator-like 3 isoform 10 transport Golgi cisterna membrane|perinuclear region of cytoplasm metal ion binding|protein binding 0 Epithelial(96;0.225) CGGCAGTGCTGAGGCGGAACA 0.687 NaN 0 0 0 0.009096 0 4 6 C2orf69 205327 broad.mit.edu 37 2 200790122 200790122 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:200790122C>G uc010zhb.1 + 2 854 c.671C>G c.(670-672)TCT>TGT p.S224C NM_153689 NP_710156 Q8N8R5 CB069_HUMAN hypothetical protein LOC205327 precursor 224 extracellular region central_nervous_system(1) 1 TCCAGTCCTTCTCATACTACG 0.363 NaN 0 0 0 0.007835 0 43 71 RAPH1 65059 broad.mit.edu 37 2 204324748 204324748 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:204324748C>G uc002vad.2 - 7 1199 c.974G>C c.(973-975)AGA>ACA p.R325T RAPH1_uc002vae.2_Missense_Mutation_p.R377T|RAPH1_uc002vaf.2_Missense_Mutation_p.R377T NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 325 Ras-associating. cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 TTCAAAGATTCTCTCTGTCCC 0.318 NaN 0 0 0 0.003271 0 34 69 PLEKHM3 389072 broad.mit.edu 37 2 208795688 208795688 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:208795688G>A uc002vcl.2 - 5 2338 c.1848C>T c.(1846-1848)TTC>TTT p.F616F PLEKHM3_uc002vcm.2_Silent_p.F616F NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 616 intracellular signal transduction metal ion binding ovary(1) 1 CCCGGCAGCTGAACAAATAGG 0.627 NaN 0 0 0 0.011902 0 22 20 PLCD4 84812 broad.mit.edu 37 2 219498429 219498429 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:219498429C>T uc002vij.1 + 11 1746 c.1551C>T c.(1549-1551)TTC>TTT p.F517F PLCD4_uc010zkk.1_Silent_p.F67F NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 517 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ACTACCACTTCTACGAGATAT 0.502 NaN 0 0 0 0.006122 0 19 59 RNF25 64320 broad.mit.edu 37 2 219528996 219528996 + Missense_Mutation SNP G G C rs146227317 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:219528996G>C uc002vit.2 - 10 1152 c.1064C>G c.(1063-1065)CCA>CGA p.P355R RNF25_uc010fvw.2_Missense_Mutation_p.P243R NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 355 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCCCTTTGGGTGCCTCCG 0.612 NaN 0 0 0 0.004878 0 37 137 DNER 92737 broad.mit.edu 37 2 230341868 230341868 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:230341868G>A uc002vpv.2 - 7 1396 c.1249C>T c.(1249-1251)CAG>TAG p.Q417* DNER_uc010zly.1_Nonsense_Mutation_p.Q145* NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 417 Extracellular (Potential).|EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCTGGACACTGGCAGGTGAAT 0.368 NaN 0 0 0 0.005524 0 38 21 NEU2 4759 broad.mit.edu 37 2 233899630 233899630 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:233899630G>A uc010zmn.1 + 2 1006 c.1006G>A c.(1006-1008)GAC>AAC p.D336N NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 336 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) TGCCTACTCAGACCTCCAGAG 0.612 NaN 0 0 0 0.01441 0 114 84 COL6A3 1293 broad.mit.edu 37 2 238266512 238266512 + Missense_Mutation SNP T T A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:238266512T>A uc002vwl.2 - 22 6770 c.6485A>T c.(6484-6486)CAA>CTA p.Q2162L COL6A3_uc002vwo.2_Missense_Mutation_p.Q1956L|COL6A3_uc010znj.1_Missense_Mutation_p.Q1555L|COL6A3_uc002vwp.1_5'Flank NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2162 Triple-helical region.|Collagen-like 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGGCTGTCTTGTCCTGGGTT 0.527 NaN 0 0 0 0.01441 0 166 123 HDAC4 9759 broad.mit.edu 37 2 240111708 240111708 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:240111708C>T uc002vyk.3 - 4 952 c.160G>A c.(160-162)GAC>AAC p.D54N HDAC4_uc010fyz.1_Missense_Mutation_p.D49N|HDAC4_uc010zoa.1_Missense_Mutation_p.D49N|HDAC4_uc010fza.2_Missense_Mutation_p.D54N|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_Missense_Mutation_p.D6N NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 54 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) AACTGGTGGTCCAGGCGCAGG 0.657 NaN 0 0 0 0.007413 0 18 9 ATG4B 23192 broad.mit.edu 37 2 242598539 242598539 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:242598539G>A uc002wbv.2 + 7 578 c.475G>A c.(475-477)GAT>AAT p.D159N ATG4B_uc002wbu.2_Missense_Mutation_p.D85N|ATG4B_uc002wbw.2_Missense_Mutation_p.D159N|ATG4B_uc010zox.1_Missense_Mutation_p.D145N|ATG4B_uc010zoy.1_Missense_Mutation_p.D85N|ATG4B_uc010fzp.2_Missense_Mutation_p.D159N|ATG4B_uc010zoz.1_Missense_Mutation_p.D85N NM_013325 NP_037457 Q9Y4P1 ATG4B_HUMAN APG4 autophagy 4 homolog B isoform a 159 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TGCTGTCTTCGATACGTGGAG 0.468 NaN 0 0 0 0.001168 0 6 41 NOP56 10528 broad.mit.edu 37 20 2636004 2636004 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:2636004G>A uc002wgh.2 + 6 656 c.603G>A c.(601-603)GTG>GTA p.V201V NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Silent_p.V35V|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 201 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 CGGAGCTGGTGAAGATCATCA 0.522 NaN 0 0 0 0.004007 0 15 83 PLCB1 23236 broad.mit.edu 37 20 8113380 8113380 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:8113380T>C uc002wnb.2 + 1 85 c.82T>C c.(82-84)TTC>CTC p.F28L PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Missense_Mutation_p.F28L|PLCB1_uc002wmz.1_Missense_Mutation_p.F28L|PLCB1_uc002wna.2_Missense_Mutation_p.F28L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 28 MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GGGCACCAAATTCGTCAAGTG 0.682 NaN 0 0 0 0.001168 0 5 5 TPX2 22974 broad.mit.edu 37 20 30385318 30385318 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:30385318G>A uc002wwp.1 + 16 2643 c.1945G>A c.(1945-1947)GAG>AAG p.E649K TPX2_uc010gdv.1_Missense_Mutation_p.E685K NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 649 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATCAGTTGCTGGTAGTATTAT 0.463 NaN 0 0 0 0.010818 0 32 121 FOXS1 2307 broad.mit.edu 37 20 30433105 30433105 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:30433105G>A uc002wwt.1 - 1 316 c.241C>T c.(241-243)CGC>TGC p.R81C NM_004118 NP_004109 O43638 FOXS1_HUMAN forkhead box S1 81 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1) 1 CGGTCATCGCGGGGCACCTTG 0.637 NaN 0 0 0 0.003163 0 14 23 DNMT3B 1789 broad.mit.edu 37 20 31376814 31376814 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:31376814C>G uc002wyc.2 + 7 1130 c.809C>G c.(808-810)TCC>TGC p.S270C DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.S270C|DNMT3B_uc002wye.2_Missense_Mutation_p.S270C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.S228C|DNMT3B_uc010zua.1_Missense_Mutation_p.S194C|DNMT3B_uc002wyf.2_Missense_Mutation_p.S282C|DNMT3B_uc002wyg.2_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 270 PWWP.|Interaction with DNMT1 and DNMT3A. S -> P (in ICF). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 GGCAAGTTCTCCGAGGTGAGT 0.607 NaN 0 0 0 0.010504 0 20 25 RALY 22913 broad.mit.edu 37 20 32659982 32659982 + Missense_Mutation SNP G G C rs114080584 by1000genomes TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:32659982G>C uc002xab.2 + 3 400 c.102G>C c.(100-102)AAG>AAC p.K34N RALY_uc010zui.1_Missense_Mutation_p.K34N|RALY_uc002xac.2_Missense_Mutation_p.K34N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.K34N NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 34 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 CTCTGGTGAAGAAATCAGATG 0.488 NaN 0 0 0 0.010504 0 21 114 RALY 22913 broad.mit.edu 37 20 32664519 32664519 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:32664519G>A uc002xab.2 + 7 854 c.556G>A c.(556-558)GAG>AAG p.E186K RALY_uc002xac.2_Missense_Mutation_p.E170K|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.E186K NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 186 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 AAAGAGCAGTGAGCTGCAGGC 0.572 NaN 0 0 0 0.006214 0 8 45 EPB41L1 2036 broad.mit.edu 37 20 34782172 34782172 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:34782172G>A uc002xfb.2 + 12 1510 c.1339G>A c.(1339-1341)GAT>AAT p.D447N EPB41L1_uc002xeu.2_Missense_Mutation_p.D385N|EPB41L1_uc010zvo.1_Missense_Mutation_p.D447N|EPB41L1_uc002xev.2_Missense_Mutation_p.D447N|EPB41L1_uc002xew.2_Missense_Mutation_p.D350N|EPB41L1_uc002xex.2_Missense_Mutation_p.D416N|EPB41L1_uc002xey.2_Missense_Mutation_p.D374N|EPB41L1_uc002xez.2_Missense_Mutation_p.D385N NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 447 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) CGAGAACCATGATGCAGGGCC 0.597 NaN 0 0 0 0.00308 0 6 28 DHX35 60625 broad.mit.edu 37 20 37621005 37621005 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:37621005C>T uc002xjh.2 + 7 530 c.519C>T c.(517-519)ATC>ATT p.I173I DHX35_uc010zwa.1_Silent_p.I18I|DHX35_uc010zwb.1_Silent_p.I18I|DHX35_uc010zwc.1_Silent_p.I142I NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 173 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TTAGTGTCATCATGCTGGATG 0.433 NaN 0 0 0 0.01441 0 49 126 CHD6 84181 broad.mit.edu 37 20 40065975 40065975 + Splice_Site SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:40065975C>T uc002xka.1 - 27 4186 c.4008_splice c.e27-1 p.R1336_splice CHD6_uc002xkb.1_Intron NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 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) TGTGTTGCCTCTAAATAAAAG 0.264 NaN 0 0 0 0.00623 0 41 84 SGK2 10110 broad.mit.edu 37 20 42196637 42196637 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:42196637G>C uc002xkv.2 + 4 625 c.406G>C c.(406-408)GAG>CAG p.E136Q SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.E76Q|SGK2_uc010ggm.2_Missense_Mutation_p.E76Q|SGK2_uc002xks.2_Missense_Mutation_p.E76Q|SGK2_uc002xku.2_Missense_Mutation_p.E76Q|SGK2_uc002xkq.1_Missense_Mutation_p.E76Q NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 136 Protein kinase.|Nuclear localization signal (By similarity). intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AAAGAAGAAAGAGGTACCAGA 0.502 NaN 0 0 0 0.008291 0 9 59 SERINC3 10955 broad.mit.edu 37 20 43141486 43141486 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:43141486G>C uc002xme.2 - 3 485 c.351C>G c.(349-351)TTC>TTG p.F117L SERINC3_uc002xmf.1_Missense_Mutation_p.F117L|SERINC3_uc010ggs.1_Missense_Mutation_p.F110L|SERINC3_uc010zwp.1_Missense_Mutation_p.F62L NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 117 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TTTTTACTTTGAACATGAGCA 0.398 NaN 0 0 0 0.004007 0 17 108 PKIG 11142 broad.mit.edu 37 20 43243233 43243233 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:43243233C>T uc002xmg.2 + 5 565 c.36C>T c.(34-36)ATC>ATT p.I12I PKIG_uc002xmh.2_Silent_p.I12I|PKIG_uc002xmi.2_Silent_p.I12I NM_181805 NP_861521 Q9Y2B9 IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma 12 cAMP-dependent protein kinase inhibitor activity|protein binding 0 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CGGACTTCATCTCCTGTGACC 0.617 NaN 0 0 0 0.008361 0 31 74 RIMS4 140730 broad.mit.edu 37 20 43399923 43399923 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:43399923C>G uc002xms.2 - 2 229 c.229G>C c.(229-231)GAG>CAG p.E77Q RIMS4_uc010ggu.2_Missense_Mutation_p.E78Q NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 77 exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) TACTTGCCCTCTGAGCCATAG 0.637 NaN 0 0 0 0.003163 0 15 67 ZMYND8 23613 broad.mit.edu 37 20 45923508 45923508 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:45923508C>T uc002xta.1 - 5 663 c.409G>A c.(409-411)GAA>AAA p.E137K ZMYND8_uc010ghr.1_Missense_Mutation_p.E112K|ZMYND8_uc002xst.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsu.1_Missense_Mutation_p.E137K|ZMYND8_uc002xsv.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc010zxy.1_Missense_Mutation_p.E164K|ZMYND8_uc002xtb.1_Missense_Mutation_p.E157K|ZMYND8_uc002xss.2_Missense_Mutation_p.E137K|ZMYND8_uc010zxz.1_Missense_Mutation_p.E132K|ZMYND8_uc002xtc.1_Missense_Mutation_p.E157K|ZMYND8_uc002xtd.1_Missense_Mutation_p.E132K|ZMYND8_uc002xte.1_Missense_Mutation_p.E137K|ZMYND8_uc010zya.1_Missense_Mutation_p.E137K|ZMYND8_uc002xtf.1_Missense_Mutation_p.E157K|ZMYND8_uc002xtg.2_Missense_Mutation_p.E131K|ZMYND8_uc010ghs.1_Missense_Mutation_p.E131K NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 137 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCGATGCATTCTGCTACTGTA 0.383 NaN 0 0 0 0.01441 0 92 227 CSE1L 1434 broad.mit.edu 37 20 47704592 47704592 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:47704592C>T uc002xty.2 + 17 1904 c.1770C>T c.(1768-1770)TAC>TAT p.Y590Y CSE1L_uc010zyg.1_Silent_p.Y373Y|CSE1L_uc010ghx.2_Silent_p.Y534Y|CSE1L_uc010ghy.2_Silent_p.Y211Y|CSE1L_uc010zyh.1_Silent_p.Y239Y NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 590 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TAATCCCCTACATCCCTACTC 0.348 NaN 0 0 0 0.006999 0 36 106 SLC9A8 23315 broad.mit.edu 37 20 48503324 48503324 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:48503324C>T uc002xuv.1 + 15 1737 c.1527C>T c.(1525-1527)CTC>CTT p.L509L SLC9A8_uc010zym.1_Silent_p.L209L|SLC9A8_uc010gid.2_Silent_p.L133L NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 509 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TGTCGGAGCTCACGGAGGAGG 0.647 NaN 0 0 0 0.004656 0 23 61 ATP9A 10079 broad.mit.edu 37 20 50255994 50255994 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:50255994C>T uc002xwg.1 - 15 1556 c.1556G>A c.(1555-1557)CGA>CAA p.R519Q ATP9A_uc010gih.1_Missense_Mutation_p.R383Q|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 519 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(4) 4 AGACTGGTCTCGGCCCACCAG 0.547 NaN OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00632 0 29 88 TSHZ2 128553 broad.mit.edu 37 20 51871960 51871960 + Nonsense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:51871960G>T uc002xwo.2 + 2 2919 c.1963G>T c.(1963-1965)GAG>TAG p.E655* NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 655 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GAAGGAGGAGGAGAAGCTGAT 0.592 NaN 1 0 3.09899e-07 0.004482 3.18577e-07 9 69 GNAS 2778 broad.mit.edu 37 20 57480468 57480468 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:57480468G>C uc002xzw.2 + 6 2677 c.2392G>C c.(2392-2394)GAG>CAG p.E798Q GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E96Q|GNAS_uc002xzx.2_Missense_Mutation_p.E96Q|GNAS_uc010gjr.2_Missense_Mutation_p.E46Q|GNAS_uc002xzy.2_Missense_Mutation_p.E81Q|GNAS_uc002yaa.2_Missense_Mutation_p.E141Q|GNAS_uc010zzt.1_Missense_Mutation_p.E156Q|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E46Q|GNAS_uc002yae.2_Missense_Mutation_p.E80Q NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 155 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGCTCTGTGGGAGGATGAAGG 0.473 NaN Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 0 0 0 0.006214 0 8 64 PRIC285 85441 broad.mit.edu 37 20 62195447 62195447 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:62195447C>T uc002yfm.2 - 9 5620 c.4728G>A c.(4726-4728)CTG>CTA p.L1576L PRIC285_uc002yfl.1_Silent_p.L1007L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1576 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGTGCAGTGACAGGGGCACCC 0.711 NaN 0 0 0 0.010729 0 10 16 MYT1 4661 broad.mit.edu 37 20 62838960 62838960 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr20:62838960C>G uc002yii.2 + 7 775 c.411C>G c.(409-411)GTC>GTG p.V137V MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 137 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAGCCCCGTCAAGTCCCATT 0.582 NaN 0 0 0 0.008871 0 18 117 SFRS15 57466 broad.mit.edu 37 21 33044531 33044531 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:33044531C>G uc002ypd.2 - 20 3051 c.2625G>C c.(2623-2625)TTG>TTC p.L875F SFRS15_uc002ype.2_Missense_Mutation_p.L853F|SFRS15_uc010glu.2_Missense_Mutation_p.L860F NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 875 nucleus nucleotide binding|RNA binding 0 GGGGCGGCATCAAAGGGAACC 0.632 NaN 0 0 0 0.014323 0 22 73 ITSN1 6453 broad.mit.edu 37 21 35153820 35153820 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:35153820A>G uc002yta.1 + 15 1920 c.1652A>G c.(1651-1653)CAA>CGA p.Q551R DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmg.2_Missense_Mutation_p.Q514R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmi.2_Missense_Mutation_p.Q514R|ITSN1_uc010gmj.2_Missense_Mutation_p.Q435R|ITSN1_uc002ysy.2_Missense_Mutation_p.Q551R|ITSN1_uc002ysx.2_Missense_Mutation_p.Q514R|ITSN1_uc002ytb.1_Missense_Mutation_p.Q551R|ITSN1_uc002ytc.1_Missense_Mutation_p.Q551R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.Q514R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.Q485R NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 551 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CTCAATGACCAATTAAAACAA 0.299 NaN 0 0 0 0.006122 0 15 122 MORC3 23515 broad.mit.edu 37 21 37741509 37741509 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:37741509G>A uc002yvi.2 + 15 1919 c.1843G>A c.(1843-1845)GAC>AAC p.D615N NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 615 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 GTTTGTGGGTGACAGTGAACC 0.473 NaN 0 0 0 0.01441 0 70 130 TTC3 7267 broad.mit.edu 37 21 38519889 38519889 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:38519889G>A uc002yvz.2 + 22 2107 c.2002G>A c.(2002-2004)GAT>AAT p.D668N TTC3_uc011aee.1_Missense_Mutation_p.D358N|TTC3_uc002ywa.2_Missense_Mutation_p.D668N|TTC3_uc002ywb.2_Missense_Mutation_p.D668N|TTC3_uc010gnf.2_Missense_Mutation_p.D433N|TTC3_uc002ywc.2_Missense_Mutation_p.D358N|TTC3_uc011aed.1_Missense_Mutation_p.D358N NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 668 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) ATACATAACTGATCCAGACTT 0.378 NaN 0 0 0 0.01441 0 58 179 ERG 2078 broad.mit.edu 37 21 39755527 39755527 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:39755527G>A uc010gnw.2 - 12 1554 c.1259C>T c.(1258-1260)TCA>TTA p.S420L ERG_uc002yxa.2_Missense_Mutation_p.S413L|ERG_uc011aek.1_Missense_Mutation_p.S321L|ERG_uc010gnv.2_Missense_Mutation_p.S297L|ERG_uc010gnx.2_Missense_Mutation_p.S396L|ERG_uc011ael.1_Missense_Mutation_p.S420L|ERG_uc002yxb.2_Missense_Mutation_p.S396L NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 420 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CGGGAGGTCTGAGGGGTACTT 0.597 NaN 0 0 0 0.01441 0 62 71 BRWD1 54014 broad.mit.edu 37 21 40559037 40559037 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:40559037G>A uc002yxk.1 - 42 7017 c.6878C>T c.(6877-6879)TCT>TTT p.S2293F BRWD1_uc010goc.1_Missense_Mutation_p.S936F NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2293 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTCACTTTCAGAATTTATGGT 0.343 NaN 0 0 0 0.01441 0 56 146 PCNT 5116 broad.mit.edu 37 21 47851851 47851851 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr21:47851851G>C uc002zji.3 + 38 8580 c.8473G>C c.(8473-8475)GAG>CAG p.E2825Q PCNT_uc002zjj.2_Missense_Mutation_p.E2707Q NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2825 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GCTTGAGGCTGAGGCTCAGAA 0.572 NaN 0 0 0 0.004482 0 9 45 BCL2L13 23786 broad.mit.edu 37 22 18209590 18209590 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:18209590G>C uc002zmw.2 + 7 966 c.748G>C c.(748-750)GAG>CAG p.E250Q BCL2L13_uc002zmx.2_Missense_Mutation_p.E88Q|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.E88Q|BCL2L13_uc011agk.1_Missense_Mutation_p.E126Q|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Missense_Mutation_p.E88Q|BCL2L13_uc002zna.2_5'UTR NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 250 A. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) CTGGCAGTCTGAGAGCTTACC 0.537 NaN 0 0 0 0.00308 0 8 52 MAPK1 5594 broad.mit.edu 37 22 22161970 22161970 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:22161970G>A uc002zvn.2 - 2 525 c.285C>T c.(283-285)ATC>ATT p.I95I MAPK1_uc002zvo.2_Silent_p.I95I|MAPK1_uc010gtk.1_Silent_p.I95I NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 95 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) TCATTTGCTCGATGGTTGGTG 0.403 NaN 0 0 0 0.00308 0 8 110 ZNF280A 129025 broad.mit.edu 37 22 22868615 22868615 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:22868615C>T uc002zwe.2 - 2 1593 c.1340G>A c.(1339-1341)AGA>AAA p.R447K LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GACCCTCCTTCTGCTGTGCCT 0.413 NaN 0 0 0 0.013726 0 33 143 CRYBA4 1413 broad.mit.edu 37 22 27019252 27019252 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:27019252G>C uc003acz.3 + 3 129 c.94G>C c.(94-96)GAG>CAG p.E32Q NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 32 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 GTTCACGGCCGAGTGCCCCAG 0.592 NaN 0 0 0 0.003163 0 15 90 MYH9 4627 broad.mit.edu 37 22 36681274 36681274 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:36681274G>A uc003apg.2 - 38 5607 c.5376C>T c.(5374-5376)GTC>GTT p.V1792V NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1792 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CCTGCAGCTTGACCTTAAGCT 0.587 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.004656 0 26 88 TCF20 6942 broad.mit.edu 37 22 42609885 42609885 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:42609885G>T uc003bcj.1 - 1 1561 c.1427C>A c.(1426-1428)TCT>TAT p.S476Y TCF20_uc003bck.1_Missense_Mutation_p.S476Y|TCF20_uc003bnt.2_Missense_Mutation_p.S476Y NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CAGGGCATCAGAAAGTAACAT 0.478 NaN 1 0 1.55811e-20 0.008361 1.63806e-20 31 197 TCF20 6942 broad.mit.edu 37 22 42610021 42610021 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:42610021G>C uc003bcj.1 - 1 1425 c.1291C>G c.(1291-1293)CAT>GAT p.H431D TCF20_uc003bck.1_Missense_Mutation_p.H431D|TCF20_uc003bnt.2_Missense_Mutation_p.H431D NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CCTGCAGCATGAGAATTAGGA 0.488 NaN 0 0 0 0.005443 0 27 120 MCAT 27349 broad.mit.edu 37 22 43538972 43538972 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:43538972G>A uc003bdl.1 - 1 432 c.383C>T c.(382-384)TCG>TTG p.S128L MCAT_uc003bdm.1_Missense_Mutation_p.S128L NM_173467 NP_775738 Q8IVS2 FABD_HUMAN mitochondrial malonyltransferase isoform a 128 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding ovary(1) 1 Ovarian(80;0.0694) AGCGGCCAGCGATGCCACGAA 0.682 NaN 0 0 0 0.009096 0 3 5 SCUBE1 80274 broad.mit.edu 37 22 43634897 43634897 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:43634897C>T uc003bdt.1 - 7 879 c.791G>A c.(790-792)CGA>CAA p.R264Q SCUBE1_uc003bdu.1_Missense_Mutation_p.R294Q NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 264 EGF-like 5 (Potential).|EGF-like 6 (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) GCAGCTGCATCGCACGCCAGT 0.607 NaN 0 0 0 0.006214 0 8 21 CELSR1 9620 broad.mit.edu 37 22 46932099 46932099 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:46932099C>T uc003bhw.1 - 1 969 c.969G>A c.(967-969)GTG>GTA p.V323V NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 323 Extracellular (Potential).|Cadherin 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCACGGCTTTCACCCTGAGGA 0.642 NaN 0 0 0 0.001984 0 7 62 MIOX 55586 broad.mit.edu 37 22 50928201 50928201 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr22:50928201C>T uc003bll.1 + 10 888 c.774C>T c.(772-774)TGC>TGT p.C258C MIOX_uc003blm.1_Missense_Mutation_p.P254S|MIOX_uc003bln.1_Missense_Mutation_p.P215S NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 258 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACACCAAGTGCCCGGACCTGC 0.642 NaN 0 0 0 0.012213 0 28 56 OXTR 5021 broad.mit.edu 37 3 8809175 8809175 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:8809175G>A uc003brc.2 - 3 1321 c.699C>T c.(697-699)CTC>CTT p.L233L NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 233 Cytoplasmic (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) CAGCGGTCTTGAGCCGCAAGT 0.657 NaN 0 0 0 0.009096 0 4 14 OGG1 4968 broad.mit.edu 37 3 9792844 9792844 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:9792844C>T uc003bsi.2 + 2 696 c.353C>T c.(352-354)TCC>TTC p.S118F OGG1_uc003bsh.2_Missense_Mutation_p.S118F|OGG1_uc003bsj.2_Missense_Mutation_p.S118F|OGG1_uc003bsk.2_Missense_Mutation_p.S118F|OGG1_uc003bsl.2_Missense_Mutation_p.S118F|OGG1_uc003bsm.2_Missense_Mutation_p.S118F|OGG1_uc003bsn.2_Missense_Mutation_p.S118F|OGG1_uc003bso.2_Missense_Mutation_p.S118F|OGG1_uc003bsp.1_5'Flank|OGG1_uc010hcm.1_5'Flank|OGG1_uc003bsq.1_5'Flank|OGG1_uc003bsr.1_5'Flank NM_002542 NP_002533 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 1a 118 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) TCCGTGGACTCCCACTTCCAA 0.473 NaN BER_DNA_glycosylases 0 0 0 0.012319 0 21 31 IL17RC 84818 broad.mit.edu 37 3 9974537 9974537 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:9974537C>T uc003bua.2 + 18 1966 c.1730C>T c.(1729-1731)TCG>TTG p.S577L CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.S506L|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Missense_Mutation_p.S47L|IL17RC_uc003bub.2_Missense_Mutation_p.S491L|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Missense_Mutation_p.S474L|IL17RC_uc011atq.1_Missense_Mutation_p.S491L|IL17RC_uc003buc.2_Intron|IL17RC_uc003bue.2_Intron|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 577 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GACGTCCGCTCGGGGGGTGAG 0.692 NaN OREG0015383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 4 7 TMEM40 55287 broad.mit.edu 37 3 12783971 12783971 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:12783971C>T uc003bxg.1 - 5 464 c.337G>A c.(337-339)GAG>AAG p.E113K TMEM40_uc003bxh.1_Missense_Mutation_p.E83K|TMEM40_uc003bxi.1_Missense_Mutation_p.E37K|TMEM40_uc011auv.1_Missense_Mutation_p.E129K NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN transmembrane protein 40 113 integral to membrane 0 AGTTGAAGCTCATCCTTCAAA 0.507 NaN 0 0 0 0.007291 0 26 196 FBXL2 25827 broad.mit.edu 37 3 33400807 33400807 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:33400807C>G uc003cfp.2 + 4 224 c.153C>G c.(151-153)AAC>AAG p.N51K FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|FBXL2_uc011axs.1_RNA NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 51 F-box. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity large_intestine(1) 1 ATGGAAGCAACTGGCAAAGAA 0.378 NaN 0 0 0 0.008291 0 9 73 GORASP1 64689 broad.mit.edu 37 3 39139937 39139937 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:39139937C>T uc003ciw.1 - 9 1211 c.1113G>A c.(1111-1113)CTG>CTA p.L371L GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Silent_p.L276L|GORASP1_uc003ciz.1_Silent_p.L216L NM_031899 NP_114105 Q9BQQ3 GORS1_HUMAN Golgi reassembly stacking protein 1 371 mitotic prophase|protein transport cytosol|Golgi apparatus|membrane ovary(2)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTGGGCTGTCCAGGAAGGAGA 0.592 NaN 0 0 0 0.00245 0 15 33 CCDC13 152206 broad.mit.edu 37 3 42777313 42777313 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:42777313C>T uc003cly.3 - 10 1341 c.1257G>A c.(1255-1257)CTG>CTA p.L419L NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 419 Potential. ovary(1) 1 CCTCGCTGTTCAGTTGCTGGT 0.622 NaN 0 0 0 0.010504 0 22 63 CDCP1 64866 broad.mit.edu 37 3 45152268 45152268 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:45152268G>A uc003com.2 - 4 856 c.721C>T c.(721-723)CCA>TCA p.P241S CDCP1_uc003con.2_Missense_Mutation_p.P241S NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 241 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AAGCCTTCTGGGTAGTTGGCA 0.542 NaN 0 0 0 0.01441 0 94 169 CCR3 1232 broad.mit.edu 37 3 46307616 46307616 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:46307616C>T uc003cpg.1 + 4 1510 c.967C>T c.(967-969)CAC>TAC p.H323Y CCR3_uc003cpi.1_Missense_Mutation_p.H323Y|CCR3_uc003cpj.1_Missense_Mutation_p.H323Y|CCR3_uc003cpk.1_Missense_Mutation_p.H344Y|CCR3_uc010hjb.1_Missense_Mutation_p.H341Y|CCR3_uc003cpl.1_Missense_Mutation_p.H356Y NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 323 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CTTGCTCATGCACCTGGGCAG 0.532 NaN 0 0 0 0.00632 0 29 56 NBEAL2 23218 broad.mit.edu 37 3 47044731 47044731 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:47044731G>A uc003cqp.2 + 35 5831 c.5652G>A c.(5650-5652)GTG>GTA p.V1884V NBEAL2_uc010hjm.1_Silent_p.V1261V|NBEAL2_uc010hjn.1_Silent_p.V280V|NBEAL2_uc010hjo.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1884 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) AGGCCAAAGTGAGCACCCCAC 0.637 NaN 0 0 0 0.000602 0 4 32 SETD2 29072 broad.mit.edu 37 3 47164187 47164187 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:47164187C>T uc003cqs.2 - 3 1992 c.1939G>A c.(1939-1941)GAT>AAT p.D647N SETD2_uc003cqv.2_Missense_Mutation_p.D636N NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAATACTATCATGGCTATCA 0.318 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.004007 0 17 110 STAB1 23166 broad.mit.edu 37 3 52538540 52538540 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:52538540C>A uc003dej.2 + 11 1288 c.1214C>A c.(1213-1215)TCC>TAC p.S405Y STAB1_uc003dei.1_Missense_Mutation_p.S405Y NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 405 Extracellular (Potential).|FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCATCCGTCTCCTCCTTCTCC 0.642 NaN 1 0 7.93312e-07 0.00245 8.1363e-07 13 60 RFT1 91869 broad.mit.edu 37 3 53159984 53159984 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:53159984G>A uc003dgj.2 - 2 144 c.90C>T c.(88-90)GTC>GTT p.V30V RFT1_uc003dgk.2_Silent_p.V30V NM_052859 NP_443091 Q96AA3 RFT1_HUMAN RFT1 homolog 30 Helical; (Potential). carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) ATGCATTCAAGACAAAGGTGA 0.393 NaN 0 0 0 0.009096 0 3 41 FLNB 2317 broad.mit.edu 37 3 58109122 58109122 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:58109122C>T uc003djj.2 + 21 3594 c.3429C>T c.(3427-3429)CTC>CTT p.L1143L FLNB_uc010hne.2_Silent_p.L1143L|FLNB_uc003djk.2_Silent_p.L1143L|FLNB_uc010hnf.2_Silent_p.L1143L|FLNB_uc003djl.2_Silent_p.L974L|FLNB_uc003djm.2_Silent_p.L974L NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1143 Interaction with FBLP1.|Filamin 10. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGCCAGGTCTCGAGCACGGGA 0.592 NaN 0 0 0 0.01441 0 57 119 CADPS 8618 broad.mit.edu 37 3 62423858 62423858 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:62423858T>C uc003dll.2 - 28 4058 c.3698A>G c.(3697-3699)TAC>TGC p.Y1233C CADPS_uc003dlj.1_Missense_Mutation_p.Y188C|CADPS_uc003dlk.1_Missense_Mutation_p.Y681C|CADPS_uc003dlm.2_Missense_Mutation_p.Y1194C|CADPS_uc003dln.2_Missense_Mutation_p.Y1154C NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1233 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GAAAGTCACGTAGGCGTCGGC 0.443 NaN 0 0 0 0.003163 0 15 36 GXYLT2 727936 broad.mit.edu 37 3 73004392 73004393 + Missense_Mutation DNP GA GA CT TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:73004392_73004393GA>CT uc003dpg.2 + 4 744_745 c.744_745GA>CT c.(742-747)AAGATT>AACTTT p.248_249KI>NF NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 248_249 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 AAATCCCCAAGATTGGCTGGTA 0.475 NaN 0 0 0 0.004672 0 8 30 C3orf38 285237 broad.mit.edu 37 3 88205273 88205273 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:88205273C>G uc003dqw.2 + 4 789 c.478C>G c.(478-480)CTA>GTA p.L160V NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 160 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GAATCCTTTTCTAGGACCACC 0.388 NaN 0 0 0 0.01441 0 48 114 OR5K3 403277 broad.mit.edu 37 3 98110249 98110249 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:98110249C>T uc011bgw.1 + 1 740 c.740C>T c.(739-741)TCA>TTA p.S247L NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTCTCTGTGTCAATATTCTGT 0.353 NaN 0 0 0 0.01441 0 70 134 GPR15 2838 broad.mit.edu 37 3 98251707 98251707 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:98251707C>T uc011bgy.1 + 1 830 c.830C>T c.(829-831)TCA>TTA p.S277L NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 277 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TATTTACCCTCAGCTATTCTT 0.478 NaN 0 0 0 0.012319 0 22 143 GPR128 84873 broad.mit.edu 37 3 100354655 100354655 + Silent SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:100354655A>G uc003duc.2 + 5 850 c.582A>G c.(580-582)AGA>AGG p.R194R GPR128_uc011bhc.1_5'UTR NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 194 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 ACACTTCCAGAAATGCTTCAC 0.373 NaN 0 0 0 0.013114 0 34 56 RG9MTD1 54931 broad.mit.edu 37 3 101284754 101284754 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:101284754C>G uc003duz.2 + 2 1277 c.1129C>G c.(1129-1131)CCC>GCC p.P377A NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 377 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 GCAATTCGTTCCCAAGAGAAA 0.343 NaN 0 0 0 0.01441 0 51 82 CD47 961 broad.mit.edu 37 3 107778373 107778373 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:107778373T>C uc003dwt.1 - 5 797 c.617A>G c.(616-618)AAT>AGT p.N206S CD47_uc003dwu.1_Missense_Mutation_p.N206S|CD47_uc003dwv.1_Missense_Mutation_p.N206S|CD47_uc003dww.1_Missense_Mutation_p.N206S NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 206 Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) GCCAGTAGCATTCTTTAATGA 0.284 NaN 0 0 0 0.014323 0 21 165 SIDT1 54847 broad.mit.edu 37 3 113321989 113321989 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:113321989C>T uc003eak.2 + 12 1906 c.1255C>T c.(1255-1257)CGG>TGG p.R419W SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R419W|SIDT1_uc011big.1_Missense_Mutation_p.R172W|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 419 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 AAACATCATCCGGACCAAGGT 0.507 NaN 0 0 0 0.008291 0 9 62 KIAA2018 205717 broad.mit.edu 37 3 113393710 113393710 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:113393710C>T uc003eam.2 - 3 427 c.16G>A c.(16-18)GAG>AAG p.E6K NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 6 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GTCTCATTCTCTGTCATTTCT 0.383 NaN 0 0 0 0.00632 0 26 192 POLQ 10721 broad.mit.edu 37 3 121207358 121207358 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:121207358C>T uc003eee.3 - 16 4549 c.4420G>A c.(4420-4422)GAA>AAA p.E1474K POLQ_uc003eed.2_Missense_Mutation_p.E646K NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1474 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) GGAAGACATTCTCCTTCTACA 0.333 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.009535 0 33 171 GOLGB1 2804 broad.mit.edu 37 3 121414092 121414092 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:121414092C>G uc003eei.3 - 13 5389 c.5263G>C c.(5263-5265)GAG>CAG p.E1755Q GOLGB1_uc010hrc.2_Missense_Mutation_p.E1760Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E1721Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1641Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1719Q NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1755 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCTTGAACCTCTTCACTTAGA 0.383 NaN 0 0 0 0.01441 0 88 329 GOLGB1 2804 broad.mit.edu 37 3 121414425 121414425 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:121414425G>A uc003eei.3 - 13 5056 c.4930C>T c.(4930-4932)CAA>TAA p.Q1644* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.Q1649*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.Q1610*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.Q1530*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.Q1608* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1644 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TACAGTTCTTGTTTCTCTTGC 0.408 NaN 0 0 0 0.01441 0 137 227 GOLGB1 2804 broad.mit.edu 37 3 121416388 121416388 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:121416388C>T uc003eei.3 - 13 3093 c.2967G>A c.(2965-2967)GAG>GAA p.E989E GOLGB1_uc010hrc.2_Silent_p.E994E|GOLGB1_uc003eej.3_Silent_p.E955E|GOLGB1_uc011bjm.1_Silent_p.E875E|GOLGB1_uc010hrd.1_Silent_p.E953E NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 989 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCTTTCTCTGCTCATTTTCTT 0.388 NaN 0 0 0 0.01441 0 61 190 GOLGB1 2804 broad.mit.edu 37 3 121416969 121416969 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:121416969C>T uc003eei.3 - 13 2512 c.2386G>A c.(2386-2388)GAA>AAA p.E796K GOLGB1_uc010hrc.2_Missense_Mutation_p.E801K|GOLGB1_uc003eej.3_Missense_Mutation_p.E762K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E682K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E760K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 796 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGGATCTGTTCAGTGAGCAGG 0.418 NaN 0 0 0 0.01441 0 94 226 GOLGB1 2804 broad.mit.edu 37 3 121417118 121417118 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:121417118C>G uc003eei.3 - 13 2363 c.2237G>C c.(2236-2238)AGA>ACA p.R746T GOLGB1_uc010hrc.2_Missense_Mutation_p.R751T|GOLGB1_uc003eej.3_Missense_Mutation_p.R712T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R632T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R710T NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 746 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AAGCTGGTCTCTTTCTTCAGA 0.423 NaN 0 0 0 0.01441 0 63 175 KPNA1 3836 broad.mit.edu 37 3 122168479 122168479 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:122168479C>G uc003efd.1 - 9 895 c.859G>C c.(859-861)GAT>CAT p.D287H KPNA1_uc003efb.1_Missense_Mutation_p.D86H|KPNA1_uc003efc.1_Missense_Mutation_p.D86H|KPNA1_uc011bjr.1_Missense_Mutation_p.D86H|KPNA1_uc010hrh.2_Missense_Mutation_p.D86H|KPNA1_uc003efe.2_Missense_Mutation_p.D287H NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 287 Binding to RAG1.|ARM 5. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) TGAATTTTATCATTGGGTCCA 0.458 NaN 0 0 0 0.006122 0 18 102 KALRN 8997 broad.mit.edu 37 3 124165699 124165699 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:124165699G>A uc003ehg.2 + 21 3640 c.3513G>A c.(3511-3513)CTG>CTA p.L1171L KALRN_uc010hrv.1_Silent_p.L1162L|KALRN_uc003ehf.1_Silent_p.L1171L|KALRN_uc011bjy.1_Silent_p.L1162L|KALRN_uc003ehh.1_Silent_p.L517L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1171 Spectrin 5. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGGAACTGCTGAAAGAATATG 0.502 NaN 0 0 0 0.01441 0 71 137 MCM2 4171 broad.mit.edu 37 3 127327705 127327705 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:127327705G>A uc003ejp.2 + 8 1324 c.1267G>A c.(1267-1269)GAT>AAT p.D423N MCM2_uc011bkm.1_Missense_Mutation_p.D293N|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.D307N NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 423 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CAACAACTATGATGGCTCCCT 0.567 NaN 0 0 0 0.01441 0 114 145 PLXND1 23129 broad.mit.edu 37 3 129288723 129288723 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:129288723G>A uc003emx.2 - 20 3928 c.3828C>T c.(3826-3828)ATC>ATT p.I1276I PLXND1_uc011blb.1_5'Flank NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1276 Helical; (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGCAGATGACGATGGACACGA 0.637 NaN 0 0 0 0.00308 0 7 48 DNAJC13 23317 broad.mit.edu 37 3 132185190 132185190 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:132185190G>A uc003eor.2 + 19 2081 c.2016G>A c.(2014-2016)GAG>GAA p.E672E DNAJC13_uc010htq.1_Silent_p.E672E NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 672 heat shock protein binding ovary(1)|breast(1) 2 TCGTACCTGAGAAGGATGCTG 0.393 NaN 0 0 0 0.00245 0 14 121 EPHB1 2047 broad.mit.edu 37 3 134967280 134967280 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:134967280G>A uc003eqt.2 + 14 2839 c.2619G>A c.(2617-2619)GAG>GAA p.E873E EPHB1_uc003equ.2_Silent_p.E434E NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 873 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GGTTTGCGGAGATTGTCAACA 0.572 NaN 0 0 0 0.00499 0 17 35 MSL2 55167 broad.mit.edu 37 3 135913931 135913931 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:135913931G>A uc003eqx.1 - 1 758 c.25C>T c.(25-27)CTC>TTC p.L9F MSL2_uc011bmb.1_5'Flank NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 9 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 GAAATGTAGAGAGCAGTAGCA 0.527 NaN 0 0 0 0.01441 0 99 199 ESYT3 83850 broad.mit.edu 37 3 138187010 138187010 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:138187010C>T uc003esk.2 + 12 1508 c.1282C>T c.(1282-1284)CTT>TTT p.L428F ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 428 integral to membrane|plasma membrane 0 GCTTTCATTGCTTACTGACCA 0.587 NaN 0 0 0 0.010504 0 18 39 ATR 545 broad.mit.edu 37 3 142184050 142184050 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:142184050C>G uc003eux.3 - 41 7052 c.6930G>C c.(6928-6930)AAG>AAC p.K2310N ATR_uc003euy.1_Missense_Mutation_p.K196N NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2310 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 AAGAAATCTTCTTTGGTTTCT 0.318 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.007413 0 18 109 C3orf58 205428 broad.mit.edu 37 3 143691397 143691397 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:143691397G>A uc003evo.2 + 1 758 c.223G>A c.(223-225)GAG>AAG p.E75K C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 75 COPI vesicle coat|extracellular region ovary(1) 1 GGTGGTATTCGAGGCGTGGGG 0.672 NaN 0 0 0 0.00632 0 24 51 PLOD2 5352 broad.mit.edu 37 3 145804623 145804623 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:145804623C>A uc003evs.1 - 10 1584 c.1078G>T c.(1078-1080)GTA>TTA p.V360L PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.V305L|PLOD2_uc003evr.1_Missense_Mutation_p.V360L NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 360 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TCTGGTCCTACTATTTTTATA 0.254 NaN 1 0 0.00198382 0.001984 0.0020089 7 23 P2RY13 53829 broad.mit.edu 37 3 151046193 151046193 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:151046193G>C uc003eyv.2 - 2 672 c.651C>G c.(649-651)TTC>TTG p.F217L MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 217 Helical; Name=5; (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) AAACAGTCCAGAAAATAAACT 0.358 NaN 0 0 0 0.00245 0 14 141 SLC33A1 9197 broad.mit.edu 37 3 155571325 155571325 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:155571325G>A uc003fan.3 - 1 843 c.462C>T c.(460-462)TTC>TTT p.F154F SLC33A1_uc003fao.1_Silent_p.F154F NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 154 Helical; (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AATAGATCATGAAGAGTCCTA 0.468 NaN 0 0 0 0.003271 0 33 83 IFT80 57560 broad.mit.edu 37 3 159995413 159995413 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:159995413G>A uc011boy.1 - 17 2315 c.1882C>T c.(1882-1884)CGA>TGA p.R628* IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Nonsense_Mutation_p.R491*|IFT80_uc003fdd.1_Nonsense_Mutation_p.R311*|IFT80_uc003fde.1_Nonsense_Mutation_p.R491* NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 628 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTCATATCTCGATTAGCAACT 0.343 NaN 0 0 0 0.007413 0 17 53 NMD3 51068 broad.mit.edu 37 3 160958933 160958933 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:160958933G>C uc003feb.1 + 10 972 c.853G>C c.(853-855)GAT>CAT p.D285H NMD3_uc003fec.2_Missense_Mutation_p.D285H|NMD3_uc003fed.1_Missense_Mutation_p.D285H|NMD3_uc010hwh.2_Missense_Mutation_p.D105H NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 285 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TCACCTCATTGATCCAAACAC 0.363 NaN 0 0 0 0.006122 0 17 154 FNDC3B 64778 broad.mit.edu 37 3 172028660 172028660 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:172028660G>C uc003fhy.2 + 11 1415 c.1243G>C c.(1243-1245)GAG>CAG p.E415Q FNDC3B_uc003fhz.3_Missense_Mutation_p.E415Q|FNDC3B_uc003fia.2_Missense_Mutation_p.E346Q NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 415 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CTACCTTTTAGAGTGGGATGA 0.313 NaN 0 0 0 0.006214 0 10 303 ABCC5 10057 broad.mit.edu 37 3 183700753 183700753 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:183700753C>G uc003fmg.2 - 6 799 c.634G>C c.(634-636)GAG>CAG p.E212Q ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.E212Q NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 212 ABC transmembrane type-1 1. 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) AGGTTAGACTCTGTTGCCTGG 0.527 NaN 0 0 0 0.00278 0 22 126 ECE2 9718 broad.mit.edu 37 3 184002817 184002817 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:184002817G>A uc003fni.3 + 9 1464 c.1426G>A c.(1426-1428)GAC>AAC p.D476N ECE2_uc011brh.1_Missense_Mutation_p.D329N|ECE2_uc003fnl.3_Missense_Mutation_p.D404N|ECE2_uc003fnm.3_Missense_Mutation_p.D358N|ECE2_uc003fnk.3_Missense_Mutation_p.D329N|ECE2_uc011bri.1_Missense_Mutation_p.D391N|ECE2_uc010hxv.2_Missense_Mutation_p.D120N NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 476 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGTTGAGTGACTCTGAGCC 0.552 NaN OREG0015945 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 49 126 TNK2 10188 broad.mit.edu 37 3 195615316 195615316 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:195615316C>T uc003fvu.1 - 2 687 c.144G>A c.(142-144)AAG>AAA p.K48K TNK2_uc003fvs.1_Silent_p.K80K|TNK2_uc003fvt.1_Silent_p.K111K|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Silent_p.K62K NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 48 SAM-like domain. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCATGCCGATCTTCTCCAGGT 0.607 NaN 0 0 0 0.009096 0 4 65 GAK 2580 broad.mit.edu 37 4 861130 861130 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:861130G>A uc003gbm.3 - 21 2685 c.2486C>T c.(2485-2487)TCA>TTA p.S829L GAK_uc003gbn.3_Missense_Mutation_p.S750L|GAK_uc010ibk.1_Missense_Mutation_p.S723L|GAK_uc010ibi.2_Missense_Mutation_p.S10L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.S693L NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 829 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CCCTTCATCTGACACCTCACT 0.617 NaN 0 0 0 0.005443 0 23 114 WHSC1 7468 broad.mit.edu 37 4 1918678 1918678 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:1918678C>A uc003gdz.3 + 4 1017 c.841C>A c.(841-843)CTC>ATC p.L281I WHSC1_uc003geb.3_Missense_Mutation_p.L281I|WHSC1_uc003gec.3_Missense_Mutation_p.L281I|WHSC1_uc003ged.3_Missense_Mutation_p.L281I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.L281I|WHSC1_uc003gdy.1_Missense_Mutation_p.L281I|WHSC1_uc010icd.1_Missense_Mutation_p.L281I|WHSC1_uc003gea.1_Missense_Mutation_p.L281I|WHSC1_uc010ice.1_Missense_Mutation_p.L281I|WHSC1_uc003geh.1_Missense_Mutation_p.L281I NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 281 PWWP 1. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGAGAAGAGCCTCGTAGCTTT 0.428 NaN T IGH@ MM 1 0 2.39556e-15 0.00278 2.50355e-15 23 82 HAUS3 79441 broad.mit.edu 37 4 2238119 2238119 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:2238119C>G uc003ges.1 - 4 1644 c.1414G>C c.(1414-1416)GAG>CAG p.E472Q POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E472Q|HAUS3_uc003get.1_Missense_Mutation_p.E472Q NM_024511 NP_078787 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 472 Potential. cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle large_intestine(2)|breast(2) 4 GCCACTTCCTCAAGGTTTCCA 0.323 NaN 0 0 0 0.004007 0 16 121 CCDC96 257236 broad.mit.edu 37 4 7044095 7044095 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:7044095G>A uc003gjv.2 - 1 634 c.571C>T c.(571-573)CCG>TCG p.P191S TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 191 Glu-rich. 0 CTTTTGGCCGGGCGTccttcc 0.403 NaN 0 0 0 0.00308 0 8 33 CPZ 8532 broad.mit.edu 37 4 8602948 8602948 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:8602948G>A uc003glm.2 + 3 346 c.220G>A c.(220-222)GAG>AAG p.E74K CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.E63K|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 74 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GGAGGTGGTGGAGGCCAGCTC 0.647 NaN 0 0 0 0.00308 0 8 23 ARAP2 116984 broad.mit.edu 37 4 36212232 36212232 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:36212232G>A uc003gsq.1 - 6 1605 c.1267C>T c.(1267-1269)CAG>TAG p.Q423* ARAP2_uc003gsr.1_Nonsense_Mutation_p.Q423* NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 423 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTTAAACTCTGAAAGCATTCT 0.368 NaN 0 0 0 0.01441 0 54 199 UGDH 7358 broad.mit.edu 37 4 39506886 39506886 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:39506886G>A uc003guk.1 - 9 1458 c.1142C>T c.(1141-1143)TCT>TTT p.S381F UGDH_uc011byp.1_Missense_Mutation_p.S284F|UGDH_uc003gul.1_Missense_Mutation_p.S314F NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 381 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) ACCTGGATGAGAAAGATCCAC 0.358 NaN 0 0 0 0.010504 0 20 111 NSUN7 79730 broad.mit.edu 37 4 40763266 40763266 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:40763266G>C uc003gvj.3 + 4 931 c.436G>C c.(436-438)GAT>CAT p.D146H NSUN7_uc003gvh.2_Missense_Mutation_p.D146H|NSUN7_uc003gvi.3_Missense_Mutation_p.D146H NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 TGTCCTTTCTGATAATGAAGA 0.323 NaN 0 0 0 0.008361 0 31 141 TMPRSS11F 389208 broad.mit.edu 37 4 68934364 68934364 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:68934364G>A uc003hdt.1 - 7 776 c.727C>T c.(727-729)CTG>TTG p.L243L LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 243 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GCTGTGAGCAGCCATGTGTTA 0.527 NaN 0 0 0 0.008291 0 9 76 G3BP2 9908 broad.mit.edu 37 4 76579204 76579204 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:76579204G>A uc003hir.2 - 8 953 c.788C>T c.(787-789)TCT>TTT p.S263F G3BP2_uc003his.2_Missense_Mutation_p.S263F|G3BP2_uc003hit.2_Intron NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 263 cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TGGAATTCCAGAGGAAGAAAC 0.423 NaN 0 0 0 0.008291 0 10 21 FRAS1 80144 broad.mit.edu 37 4 79199890 79199890 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:79199890G>A uc003hlb.2 + 10 1503 c.1063G>A c.(1063-1065)GGA>AGA p.G355R FRAS1_uc003hkw.2_Missense_Mutation_p.G355R|FRAS1_uc003hky.1_Missense_Mutation_p.G59R|FRAS1_uc003hkz.2_Missense_Mutation_p.G59R NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 355 VWFC 6.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGAAGAAACTGGAGAATTTGT 0.328 NaN 0 0 0 0.004007 0 17 43 FRAS1 80144 broad.mit.edu 37 4 79238534 79238534 + Nonsense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:79238534C>G uc003hlb.2 + 17 2272 c.1832C>G c.(1831-1833)TCA>TGA p.S611* FRAS1_uc003hkw.2_Nonsense_Mutation_p.S611*|FRAS1_uc003hky.1_Nonsense_Mutation_p.S315*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.S315*|FRAS1_uc003hla.1_Nonsense_Mutation_p.S122* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 611 FU 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGTCATAACTCATGTGCCAGC 0.607 NaN 0 0 0 0.00499 0 16 83 PTPN13 5783 broad.mit.edu 37 4 87691109 87691109 + Silent SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:87691109A>G uc003hpz.2 + 29 5157 c.4677A>G c.(4675-4677)GGA>GGG p.G1559G PTPN13_uc003hpy.2_Silent_p.G1564G|PTPN13_uc003hqa.2_Silent_p.G1540G|PTPN13_uc003hqb.2_Silent_p.G1368G|PTPN13_uc003hqc.1_5'UTR NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1559 PDZ 3. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AAGTGAATGGAGCCTCTTTGA 0.408 NaN 0 0 0 0.00499 0 17 116 DSPP 1834 broad.mit.edu 37 4 88535250 88535250 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:88535250C>T uc003hqu.2 + 5 1556 c.1436C>T c.(1435-1437)TCA>TTA p.S479L NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 479 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GATGCTAATTCAGAAAGTGAC 0.378 NaN 0 0 0 0.00278 0 23 72 PPP3CA 5530 broad.mit.edu 37 4 102117268 102117268 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:102117268G>T uc011cen.1 - 2 739 c.64C>A c.(64-66)CCA>ACA p.P22T PPP3CA_uc003hvu.2_Missense_Mutation_p.P22T|PPP3CA_uc010ilj.2_Missense_Mutation_p.P22T|PPP3CA_uc003hvt.2_Missense_Mutation_p.P9T|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Missense_Mutation_p.P22T NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 22 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GGAGGAAATGGAACAGCTGAA 0.383 NaN 1 0 0.00010058 0.013537 0.000102559 13 47 AIMP1 9255 broad.mit.edu 37 4 107249297 107249297 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:107249297G>A uc011cfg.1 + 4 340 c.288G>A c.(286-288)GTG>GTA p.V96V AIMP1_uc003hyg.2_Silent_p.V96V|AIMP1_uc003hyh.2_Silent_p.V120V NM_001142415 NP_001135887 Q12904 AIMP1_HUMAN small inducible cytokine subfamily E, member 1 96 Interaction with HSP90B1 (By similarity). angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding 0 CTGAAAATGTGATACAGTCTA 0.363 NaN 0 0 0 0.012319 0 22 65 ENPEP 2028 broad.mit.edu 37 4 111397820 111397820 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:111397820G>A uc003iab.3 + 1 592 c.250G>A c.(250-252)GAG>AAG p.E84K NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 84 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CAGTGAGGATGAGAGCGGACA 0.637 NaN 0 0 0 0.003954 0 26 51 NDST4 64579 broad.mit.edu 37 4 115858492 115858492 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:115858492G>A uc003ibu.2 - 5 2068 c.1389C>T c.(1387-1389)TTC>TTT p.F463F NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 463 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TATTGTGAATGAAGCCCTTTC 0.438 NaN 0 0 0 0.014323 0 21 72 TRPC3 7222 broad.mit.edu 37 4 122853440 122853440 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:122853440C>T uc003ieg.2 - 2 1047 c.973G>A c.(973-975)GAG>AAG p.E325K TRPC3_uc010inr.2_Missense_Mutation_p.E252K|TRPC3_uc003ief.2_Missense_Mutation_p.E252K|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 240 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AACTCCTTCTCTATGTTGGCC 0.627 NaN 0 0 0 0.008291 0 10 31 NAA15 80155 broad.mit.edu 37 4 140275244 140275244 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:140275244A>G uc003ihu.1 + 10 1335 c.1079A>G c.(1078-1080)AAC>AGC p.N360S NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 360 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 CGGTTATTTAACCCCAATGGT 0.318 NaN 0 0 0 0.007413 0 19 104 NR3C2 4306 broad.mit.edu 37 4 149073701 149073701 + Missense_Mutation SNP G G A rs41511344 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:149073701G>A uc003ilj.3 - 6 2763 c.2429C>T c.(2428-2430)TCA>TTA p.S810L NR3C2_uc003ilk.3_Missense_Mutation_p.S693L|NR3C2_uc010iph.2_Intron NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 810 Steroid-binding. S->M: Alters receptor specificity. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGCAAATGATGATAGACACAT 0.353 NaN 0 0 0 0.003163 0 15 59 FGA 2243 broad.mit.edu 37 4 155507934 155507934 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:155507934C>T uc003iod.1 - 5 705 c.647G>A c.(646-648)AGA>AAA p.R216K FGA_uc003ioe.1_Missense_Mutation_p.R216K|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 216 By similarity. SR -> RS (in Ref. 9; AA sequence). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTGCCTATCTCTAGAGGGAAG 0.448 NaN 0 0 0 0.009535 0 30 119 HMGB2 3148 broad.mit.edu 37 4 174254236 174254236 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:174254236C>A uc011ckc.1 - 2 400 c.280G>T c.(280-282)GCT>TCT p.A94S HMGB2_uc003ita.3_Missense_Mutation_p.A94S|HMGB2_uc003itb.2_Missense_Mutation_p.A94S|HMGB2_uc003itc.2_Missense_Mutation_p.A94S NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 94 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CTTTTAGGAGCATTGGGGTCC 0.403 NaN 1 0 6.34439e-16 0.01441 6.63825e-16 46 250 PDLIM3 27295 broad.mit.edu 37 4 186429463 186429463 + Missense_Mutation SNP G G A rs150809809 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr4:186429463G>A uc003ixw.3 - 5 776 c.652C>T c.(652-654)CCT>TCT p.P218S PDLIM3_uc003ixx.3_Intron|PDLIM3_uc010isi.2_Intron NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 218 sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CTCATCAAAGGTGTTTCCCCT 0.403 NaN 0 0 0 0.009718 0 39 151 DNAH5 1767 broad.mit.edu 37 5 13841027 13841027 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:13841027G>C uc003jfd.2 - 34 5739 c.5697C>G c.(5695-5697)ATC>ATG p.I1899M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1899 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGTCATCAAAGATATCCCTTT 0.383 NaN Kartagener_syndrome 0 0 0 0.008871 0 19 106 TRIO 7204 broad.mit.edu 37 5 14389431 14389431 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:14389431G>A uc003jff.2 + 25 3988 c.3982G>A c.(3982-3984)GAG>AAG p.E1328K TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1279K|TRIO_uc003jfh.1_Missense_Mutation_p.E977K NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1328 DH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TGGCGTGGAAGAGATTCCACC 0.413 NaN 0 0 0 0.003163 0 12 30 FBXL7 23194 broad.mit.edu 37 5 15928098 15928098 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:15928098C>T uc003jfn.1 + 3 708 c.227C>T c.(226-228)TCC>TTC p.S76F NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 76 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TCGTCCACCTCCTCGTCCTCC 0.657 NaN 0 0 0 0.00245 0 14 35 MYO10 4651 broad.mit.edu 37 5 16781865 16781865 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:16781865G>C uc003jft.3 - 6 1144 c.676C>G c.(676-678)CAG>GAG p.Q226E MYO10_uc003jfu.2_Missense_Mutation_p.Q193E NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 226 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 ATGTTCAGCTGAACAAACTTC 0.423 NaN 0 0 0 0.00245 0 14 95 MTMR12 54545 broad.mit.edu 37 5 32233926 32233926 + Nonsense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:32233926C>A uc003jhq.2 - 15 1797 c.1627G>T c.(1627-1629)GAA>TAA p.E543* MTMR12_uc010iuk.2_Intron|MTMR12_uc010iul.2_Intron NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 543 Myotubularin phosphatase.|Interaction with MTM1. cytoplasm phosphatase activity ovary(1) 1 TTTGGCTTTTCCACATAAAGA 0.493 NaN 1 0 1.60974e-12 0.01441 1.67832e-12 52 126 ADAMTS12 81792 broad.mit.edu 37 5 33891861 33891861 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:33891861G>A uc003jia.1 - 1 264 c.101C>T c.(100-102)CCG>CTG p.P34L ADAMTS12_uc010iuq.1_Missense_Mutation_p.P34L|ADAMTS12_uc003jib.1_Missense_Mutation_p.P34L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 34 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GAAGCGAACCGGGCCTGGCTG 0.527 NaN HNSCC(64;0.19) 0 0 0 0.01441 0 42 133 TTC23L 153657 broad.mit.edu 37 5 34867123 34867123 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:34867123G>A uc003jiu.2 + 7 892 c.789G>A c.(787-789)CAG>CAA p.Q263Q TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 263 Potential. binding central_nervous_system(1) 1 AAGCTGCTCAGATAGAGCAGC 0.547 NaN 0 0 0 0.001168 0 5 17 RANBP3L 202151 broad.mit.edu 37 5 36265572 36265572 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:36265572C>T uc003jkh.2 - 5 812 c.319G>A c.(319-321)GAT>AAT p.D107N RANBP3L_uc011cow.1_Missense_Mutation_p.D132N NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 107 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CTCTTTATATCAACACTACTT 0.308 NaN 0 0 0 0.013726 0 32 101 TTC33 23548 broad.mit.edu 37 5 40730373 40730373 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:40730373C>T uc003jma.2 - 3 442 c.294G>A c.(292-294)ATG>ATA p.M98I TTC33_uc011cpm.1_Intron|TTC33_uc010ivg.2_Intron NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 98 TPR 2. binding ovary(1) 1 CCTGTGATTTCATCTCGTATA 0.368 NaN 0 0 0 0.01441 0 46 119 HCN1 348980 broad.mit.edu 37 5 45462008 45462008 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:45462008G>A uc003jok.2 - 3 976 c.951C>T c.(949-951)TTC>TTT p.F317F NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 317 Helical; Name=Segment S5; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GTGGTACTAAGAACTGAAGAC 0.423 NaN 0 0 0 0.004007 0 16 64 AP3B1 8546 broad.mit.edu 37 5 77406125 77406125 + Nonsense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:77406125G>C uc003kfj.2 - 20 2428 c.2303C>G c.(2302-2304)TCA>TGA p.S768* NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 768 Glu/Ser-rich. endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TTCGTCATTTGAAGAATCTGA 0.328 NaN Hermansky-Pudlak_syndrome 0 0 0 0.00308 0 8 38 MTX3 345778 broad.mit.edu 37 5 79284998 79284998 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:79284998C>T uc010jag.2 - 4 325 c.298G>A c.(298-300)GAA>AAA p.E100K MTX3_uc010jah.2_Missense_Mutation_p.E100K|MTX3_uc003kge.3_Missense_Mutation_p.E39K|MTX3_uc003kgf.1_5'Flank NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 100 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) AGCTTCTCTTCGAGGAGAGCA 0.338 NaN 0 0 0 0.006214 0 8 14 GPR98 84059 broad.mit.edu 37 5 90052949 90052949 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:90052949C>T uc003kju.2 + 57 12007 c.11911C>T c.(11911-11913)CAT>TAT p.H3971Y GPR98_uc003kjt.2_Missense_Mutation_p.H1677Y|GPR98_uc003kjv.2_Missense_Mutation_p.H1571Y NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3971 Calx-beta 26.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAAACCATCTCATGGGATTCT 0.423 NaN 0 0 0 0.012319 0 22 49 FAM81B 153643 broad.mit.edu 37 5 94728542 94728542 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:94728542G>A uc003kla.1 + 2 215 c.169G>A c.(169-171)GAA>AAA p.E57K FAM81B_uc010jbe.1_5'UTR NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 57 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) GACTGCAGAGGAACAGCCAGT 0.403 NaN 0 0 0 0.006122 0 13 21 GIN1 54826 broad.mit.edu 37 5 102442447 102442447 + Silent SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:102442447T>C uc003koa.1 - 3 388 c.306A>G c.(304-306)ACA>ACG p.T102T GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Silent_p.T102T NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 102 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TGGTCACAGATGTCCAATAAT 0.338 NaN 0 0 0 0.00499 0 17 35 C5orf48 389320 broad.mit.edu 37 5 125968328 125968328 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:125968328C>T uc003kub.1 + 2 190 c.177C>T c.(175-177)TTC>TTT p.F59F NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN hypothetical protein LOC389320 59 ovary(1) 1 ACATGATATTCAGGAATGTGA 0.289 NaN 0 0 0 0.001855 0 14 47 RAD50 10111 broad.mit.edu 37 5 131895051 131895051 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:131895051G>A uc003kxi.2 + 2 592 c.205G>A c.(205-207)GAT>AAT p.D69N RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 69 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTTGTACACGATCCCAAGGT 0.214 NaN Homologous_recombination 0 0 0 0.012319 0 22 81 CATSPER3 347732 broad.mit.edu 37 5 134332199 134332199 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:134332199C>T uc003lag.2 + 3 557 c.489C>T c.(487-489)ATC>ATT p.I163I NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 163 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCAGGGCATCCGGGTGAGTG 0.547 NaN 0 0 0 0.010504 0 17 66 H2AFY 9555 broad.mit.edu 37 5 134705752 134705752 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:134705752C>T uc003lam.1 - 3 463 c.253G>A c.(253-255)GTG>ATG p.V85M H2AFY_uc003lao.1_Missense_Mutation_p.V85M|H2AFY_uc003lan.1_Missense_Mutation_p.V85M|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.V85M|H2AFY_uc003lat.1_Missense_Mutation_p.V85M NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 85 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCATTGGCCACAGCCAGCAGG 0.562 NaN 0 0 0 0.009096 0 3 29 MYOT 9499 broad.mit.edu 37 5 137219160 137219160 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:137219160G>C uc011cye.1 + 7 921 c.904G>C c.(904-906)GAG>CAG p.E302Q MYOT_uc003lbv.2_Missense_Mutation_p.E302Q|MYOT_uc011cyg.1_Missense_Mutation_p.E118Q|MYOT_uc011cyh.1_Missense_Mutation_p.E187Q NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 302 Necessary for interaction with ACTA1.|Ig-like C2-type 1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GATAGTGTCTGAGAAGGGTCT 0.433 NaN 0 0 0 0.00333 0 25 88 KDM3B 51780 broad.mit.edu 37 5 137763715 137763715 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:137763715G>C uc003lcy.1 + 20 4893 c.4693G>C c.(4693-4695)GAT>CAT p.D1565H KDM3B_uc010jew.1_Missense_Mutation_p.D1221H|KDM3B_uc011cys.1_Missense_Mutation_p.D597H NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1565 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AGATGTGTCTGATGCTGTTAA 0.428 NaN 0 0 0 0.01441 0 67 277 PCDHB8 56128 broad.mit.edu 37 5 140559208 140559208 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:140559208G>C uc011dai.1 + 1 1779 c.1593G>C c.(1591-1593)CGG>CGC p.R531R PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 531 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGAGTTCCGGGTGGGCGCTT 0.672 NaN 0 0 0 0.004007 0 11 108 PCDHB16 57717 broad.mit.edu 37 5 140563854 140563854 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:140563854G>A uc003liv.2 + 1 2875 c.1720G>A c.(1720-1722)GAG>AAG p.E574K NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 574 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTGCACTGAGCTGGTGCC 0.692 NaN 0 0 0 0.006214 0 9 32 PCDHB10 56126 broad.mit.edu 37 5 140573268 140573268 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:140573268G>A uc003lix.2 + 1 1317 c.1143G>A c.(1141-1143)ATG>ATA p.M381I NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 381 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGAAAGATGGTTTGCTACA 0.418 NaN 0 0 0 0.00499 0 18 56 PCDHGC5 56097 broad.mit.edu 37 5 140870243 140870243 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:140870243C>T uc003lla.1 + 1 1436 c.1436C>T c.(1435-1437)TCA>TTA p.S479L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S479L NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 479 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCTGCCTCAGATCCAGAC 0.542 NaN 0 0 0 0.013726 0 33 116 FBXO38 81545 broad.mit.edu 37 5 147807414 147807414 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:147807414G>A uc003lpf.1 + 15 2677 c.2557G>A c.(2557-2559)GAG>AAG p.E853K FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 853 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCAGCCTGAGAGTTGTGA 0.582 NaN 0 0 0 0.001168 0 6 31 CSF1R 1436 broad.mit.edu 37 5 149449619 149449619 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:149449619C>T uc003lrl.2 - 9 1522 c.1327G>A c.(1327-1329)GAG>AAG p.E443K CSF1R_uc011dcd.1_Missense_Mutation_p.E295K|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.E443K NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 443 Ig-like C2-type 5.|Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ACTTGGGCCTCATCACACCTG 0.617 NaN 0 0 0 0.004482 0 8 36 FAM114A2 10827 broad.mit.edu 37 5 153407773 153407773 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:153407773G>A uc003lvb.2 - 6 1154 c.566C>T c.(565-567)GCA>GTA p.A189V FAM114A2_uc003lvc.2_Missense_Mutation_p.A189V|FAM114A2_uc003lvd.2_Missense_Mutation_p.A189V|FAM114A2_uc003lve.2_Missense_Mutation_p.A5V|FAM114A2_uc011dda.1_Missense_Mutation_p.A119V NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 189 purine nucleotide binding 0 ATCCCCTTCTGCTATCACATC 0.393 NaN 0 0 0 0.004878 0 36 88 ADAM19 8728 broad.mit.edu 37 5 156932736 156932736 + Silent SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:156932736A>G uc003lwz.2 - 11 1135 c.1071T>C c.(1069-1071)TCT>TCC p.S357S ADAM19_uc003lww.1_Silent_p.S90S|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Silent_p.S288S NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 357 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCAATCTGCAGAATCATGGG 0.602 NaN 0 0 0 0.001984 0 6 18 SOX30 11063 broad.mit.edu 37 5 157078609 157078609 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:157078609G>A uc003lxb.1 - 1 820 c.478C>T c.(478-480)CCT>TCT p.P160S SOX30_uc003lxc.1_Missense_Mutation_p.P160S|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 160 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGGCTCTAGGACCGGTTTCG 0.677 NaN 0 0 0 0.001168 0 5 27 CLINT1 9685 broad.mit.edu 37 5 157218935 157218935 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:157218935C>T uc003lxj.1 - 10 1346 c.1156G>A c.(1156-1158)GTT>ATT p.V386I CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Missense_Mutation_p.V368I|CLINT1_uc011ddv.1_Missense_Mutation_p.V386I NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 386 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGGAAGCAACAGGGCCTGAT 0.512 NaN 0 0 0 0.008291 0 8 46 GABRB2 2561 broad.mit.edu 37 5 160761889 160761889 + Silent SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:160761889G>T uc003lys.1 - 8 920 c.702C>A c.(700-702)CTC>CTA p.L234L GABRB2_uc011deh.1_Silent_p.L73L|GABRB2_uc003lyr.1_Silent_p.L234L|GABRB2_uc003lyt.1_Silent_p.L234L|GABRB2_uc010jiu.1_Silent_p.L171L NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 234 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCTTAAAGCTGAGGGATAACC 0.368 NaN 1 0 1.02788e-11 0.00499 1.06788e-11 16 54 PANK3 79646 broad.mit.edu 37 5 167993164 167993164 + Silent SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:167993164A>G uc003lzz.1 - 3 789 c.489T>C c.(487-489)TTT>TTC p.F163F NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 163 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) AGGCATTAGCAAAATAATAGC 0.448 NaN 0 0 0 0.00632 0 28 155 CDHR2 54825 broad.mit.edu 37 5 176005373 176005373 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:176005373C>T uc003mem.1 + 16 1648 c.1582C>T c.(1582-1584)CTC>TTC p.L528F CDHR2_uc003men.1_Missense_Mutation_p.L528F NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 528 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CAGGGCAGACCTCTTCCAAGT 0.388 NaN 0 0 0 0.000602 0 4 8 CAGE1 285782 broad.mit.edu 37 6 7373335 7373335 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:7373335C>G uc003mxi.2 - 4 2030 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.E328Q|CAGE1_uc003mxk.1_Missense_Mutation_p.E328Q NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 573 0 Ovarian(93;0.0418) AAGACTTCCTCTAATTGATCC 0.348 NaN 0 0 0 0.001984 0 7 59 DSP 1832 broad.mit.edu 37 6 7580702 7580702 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:7580702G>A uc003mxp.1 + 23 4558 c.4279G>A c.(4279-4281)GAA>AAA p.E1427K DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1427 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAGGAGGGTGGAAGAAGACAT 0.483 NaN 0 0 0 0.010729 0 11 58 DSP 1832 broad.mit.edu 37 6 7581076 7581076 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:7581076G>A uc003mxp.1 + 23 4932 c.4653G>A c.(4651-4653)GTG>GTA p.V1551V DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1551 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGAGGACTGTGAAGGACCAGG 0.522 NaN 0 0 0 0.01441 0 47 80 TXNDC5 81567 broad.mit.edu 37 6 8064557 8064557 + Translation_Start_Site SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:8064557C>T uc003mxw.2 - 1 91 c.-197G>A c.(-199--195)CGGTG>CGATG MUTED_uc003mxy.2_Missense_Mutation_p.G18D|MUTED_uc010joc.2_Translation_Start_Site|MUTED_uc010job.2_RNA NM_001145549 NP_001139021 Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 isoform 3 anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity 0 Ovarian(93;0.0398) CTTGCTGCCACCGCCCGGGGC 0.667 NaN 0 0 0 0.00308 0 8 19 SYCP2L 221711 broad.mit.edu 37 6 10913109 10913109 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:10913109T>C uc003mzo.2 + 14 1317 c.1021T>C c.(1021-1023)TGG>CGG p.W341R SYCP2L_uc011din.1_Missense_Mutation_p.W182R|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 341 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) GAATACTCTATGGGACTCAGT 0.348 NaN 0 0 0 0.00632 0 29 53 NHLRC1 378884 broad.mit.edu 37 6 18122174 18122174 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:18122174C>G uc003ncl.1 - 1 678 c.664G>C c.(664-666)GAG>CAG p.E222Q NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 222 NHL 3. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) GGGGTGGTCTCCACACCCCAA 0.552 NaN 0 0 0 0.010729 0 12 22 NHLRC1 378884 broad.mit.edu 37 6 18122786 18122786 + Nonsense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:18122786C>A uc003ncl.1 - 1 66 c.52G>T c.(52-54)GAG>TAG p.E18* NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 18 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) ATCTCCGCCTCGCGCATGAGC 0.711 NaN 1 0 0.00909568 0.009096 0.00917903 4 17 BTN3A3 10384 broad.mit.edu 37 6 26446154 26446154 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:26446154C>T uc003nhz.2 + 5 836 c.656C>T c.(655-657)TCC>TTC p.S219F BTN3A3_uc003nia.2_Missense_Mutation_p.S177F|BTN3A3_uc011dkn.1_Missense_Mutation_p.S177F NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 219 Extracellular (Potential).|Ig-like V-type 2. integral to membrane 0 GGGGGTGTATCCTGCATCATC 0.552 NaN 0 0 0 0.01441 0 54 81 BTN2A1 11120 broad.mit.edu 37 6 26459743 26459743 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:26459743C>T uc003nib.1 + 3 329 c.117C>T c.(115-117)ATC>ATT p.I39I BTN2A1_uc003nic.1_Silent_p.I39I|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_5'UTR NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 39 Extracellular (Potential).|Ig-like V-type. lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 CTGATCCCATCTTGGCCACGG 0.522 NaN 0 0 0 0.00308 0 8 41 BTN1A1 696 broad.mit.edu 37 6 26501556 26501556 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:26501556C>T uc003nif.3 + 1 62 c.42C>T c.(40-42)CTC>CTT p.L14L NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 14 extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GATGTCTGCTCACCCTCATTC 0.483 NaN 0 0 0 0.00278 0 21 67 HIST1H4I 8294 broad.mit.edu 37 6 27107327 27107327 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:27107327G>A uc003niy.1 + 1 240 c.240G>A c.(238-240)AAG>AAA p.K80K HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 80 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 CCAAGCGCAAGACGGTCACCG 0.597 NaN T BCL6 NHL 0 0 0 0.004482 0 7 44 HIST1H2AL 8332 broad.mit.edu 37 6 27833492 27833492 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:27833492G>A uc003njw.2 + 1 386 c.360G>A c.(358-360)AAG>AAA p.K120K NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 120 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 TGCCCAAGAAGACCGAGAGTC 0.522 NaN 0 0 0 0.014323 0 19 88 ZNF165 7718 broad.mit.edu 37 6 28056944 28056944 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:28056944C>T uc003nkg.2 + 5 2238 c.1154C>T c.(1153-1155)TCA>TTA p.S385L ZNF165_uc003nkh.2_Missense_Mutation_p.S385L|ZNF165_uc003nki.3_Missense_Mutation_p.S385L|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 385 C2H2-type 3. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCAGAGAGCTCAGATCTTACT 0.453 NaN 0 0 0 0.008871 0 20 64 TRIM10 10107 broad.mit.edu 37 6 30126201 30126201 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:30126201T>C uc003npo.3 - 3 807 c.731A>G c.(730-732)GAG>GGG p.E244G TRIM10_uc003npn.2_Missense_Mutation_p.E244G NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 244 cytoplasm zinc ion binding 0 TGCTGGCCTCTCATTCTTCTC 0.537 NaN 0 0 0 0.006999 0 41 219 MDC1 9656 broad.mit.edu 37 6 30681764 30681764 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:30681764C>T uc003nrg.3 - 3 773 c.333G>A c.(331-333)GTG>GTA p.V111V MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Silent_p.V111V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 111 Interaction with the MRN complex.|Interaction with CHEK2. 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 GACGGTGACTCACCCCAGGGC 0.542 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.00499 0 18 75 CSNK2B 1460 broad.mit.edu 37 6 31635725 31635725 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:31635725C>G uc003nvr.1 + 3 493 c.153C>G c.(151-153)GAC>GAG p.D51E BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.D51E|CSNK2B_uc003nvs.1_Missense_Mutation_p.D51E NM_001320 NP_001311 P67870 CSK2B_HUMAN casein kinase 2, beta polypeptide 51 adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway cytosol|nucleus|protein kinase CK2 complex identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding 0 AAGCTCTAGACATGATCTTGG 0.463 NaN 0 0 0 0.008871 0 21 63 EGFL8 80864 broad.mit.edu 37 6 32134565 32134565 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:32134565C>T uc003oab.1 + 4 370 c.312C>T c.(310-312)CAC>CAT p.H104H PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Silent_p.H104H NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 104 EMI. extracellular region|integral to membrane calcium ion binding 0 AGAAGCGGCACCCGGGGGCGC 0.667 NaN 0 0 0 0.010729 0 10 31 RPS18 6222 broad.mit.edu 37 6 33244172 33244172 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:33244172C>T uc003odp.1 + 6 433 c.388C>T c.(388-390)CGT>TGT p.R130C RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN ribosomal protein S18 130 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome 0 CTGCAGCCTTCGTGTCCGAGG 0.512 NaN 0 0 0 0.009096 0 4 27 ZBTB22 9278 broad.mit.edu 37 6 33283235 33283235 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:33283235G>A uc003oeb.2 - 2 1611 c.1459C>T c.(1459-1461)CTG>TTG p.L487L TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L487L NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 487 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAATGGCACAGAAAGATCTTA 0.627 NaN 0 0 0 0.004289 0 38 141 ZBTB22 9278 broad.mit.edu 37 6 33284430 33284430 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:33284430G>C uc003oeb.2 - 2 416 c.264C>G c.(262-264)CTC>CTG p.L88L TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L88L NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 88 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCATGCCTTTGAGTAGGACCT 0.602 NaN 0 0 0 0.004656 0 24 155 DAXX 1616 broad.mit.edu 37 6 33287200 33287200 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:33287200G>A uc003oec.2 - 6 2101 c.1897C>T c.(1897-1899)CGG>TGG p.R633W ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.R558W|DAXX_uc011dre.1_Missense_Mutation_p.R645W|DAXX_uc003oed.2_Missense_Mutation_p.R633W NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 633 Nuclear localization signal (Potential).|Interaction with SPOP. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 TTCTCCTTCCGAGATTTTTTG 0.507 NaN Mis|F|N Pancreatic neuroendocrine tumors 0 0 0 0.01441 0 47 225 CUTA 51596 broad.mit.edu 37 6 33385311 33385311 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:33385311G>A uc003oej.1 - 2 492 c.204C>T c.(202-204)GTC>GTT p.V68V CUTA_uc003oek.1_Silent_p.V45V|CUTA_uc003oel.1_Silent_p.V45V|CUTA_uc003oem.1_Silent_p.V45V|CUTA_uc003oen.1_Silent_p.V87V|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank NM_001014840 NP_001014840 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog isoform 68 protein localization|response to metal ion membrane enzyme binding 0 AGGCTGCAGAGACCGAGCCCG 0.612 NaN 0 0 0 0.004289 0 34 86 SCUBE3 222663 broad.mit.edu 37 6 35213121 35213121 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:35213121C>T uc003okf.1 + 19 2524 c.2518C>T c.(2518-2520)CGC>TGC p.R840C SCUBE3_uc003okg.1_Missense_Mutation_p.R839C|SCUBE3_uc003okh.1_Missense_Mutation_p.R727C NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 840 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CCCACCCAAGCGCAAGATCCT 0.557 NaN 0 0 0 0.008871 0 20 83 LRFN2 57497 broad.mit.edu 37 6 40400146 40400146 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:40400146G>A uc003oph.1 - 2 1172 c.707C>T c.(706-708)TCC>TTC p.S236F NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 236 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AAAACTAAAGGACAAGGGTGG 0.597 NaN 0 0 0 0.004007 0 9 35 NCR2 9436 broad.mit.edu 37 6 41303625 41303625 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:41303625G>A uc003oqh.2 + 1 98 c.11G>A c.(10-12)CGA>CAA p.R4Q NCR2_uc003oqi.2_Missense_Mutation_p.R4Q|NCR2_uc003oqj.2_Missense_Mutation_p.R4Q NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 4 cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) ATGGCCTGGCGAGCCCTACAC 0.622 NaN 0 0 0 0.004672 0 3 4 NFKBIE 4794 broad.mit.edu 37 6 44227792 44227792 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:44227792G>T uc003oxe.1 - 5 1450 c.1425C>A c.(1423-1425)GAC>GAA p.D475E SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 475 cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCTCAGTCAGGTCCTGGGGCG 0.517 NaN 1 0 3.07112e-06 0.010729 3.14246e-06 12 51 TDRD6 221400 broad.mit.edu 37 6 46658620 46658620 + Nonsense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:46658620G>T uc003oyj.2 + 1 2755 c.2755G>T c.(2755-2757)GAA>TAA p.E919* TDRD6_uc010jze.2_Nonsense_Mutation_p.E913* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 919 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AAAAAATCTAGAATTAAAATG 0.338 NaN 1 0 3.8784e-16 0.012319 4.06287e-16 20 155 MEP1A 4224 broad.mit.edu 37 6 46794205 46794205 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:46794205G>A uc010jzh.1 + 9 935 c.893G>A c.(892-894)GGA>GAA p.G298E MEP1A_uc011dwg.1_Missense_Mutation_p.G20E|MEP1A_uc011dwh.1_Missense_Mutation_p.G326E|MEP1A_uc011dwi.1_Missense_Mutation_p.G198E NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 298 Extracellular (Potential).|MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GCTCAGGCTGGAGAAGTGGAT 0.488 NaN 0 0 0 0.01441 0 48 81 PKHD1 5314 broad.mit.edu 37 6 51908451 51908451 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:51908451G>A uc003pah.1 - 26 3069 c.2793C>T c.(2791-2793)CCC>CCT p.P931P PKHD1_uc003pai.2_Silent_p.P931P NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 931 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AATGGACACAGGGAGTTGACC 0.473 NaN 0 0 0 0.003755 0 37 34 GJA10 84694 broad.mit.edu 37 6 90604653 90604653 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:90604653A>G uc011eaa.1 + 1 466 c.466A>G c.(466-468)ACT>GCT p.T156A NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 156 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TCTGCTGCGTACTTATGTCTT 0.438 NaN 0 0 0 0.01441 0 59 83 EPHA7 2045 broad.mit.edu 37 6 94068097 94068097 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:94068097G>A uc003poe.2 - 4 1106 c.865C>T c.(865-867)CAA>TAA p.Q289* EPHA7_uc003pof.2_Nonsense_Mutation_p.Q289*|EPHA7_uc011eac.1_Nonsense_Mutation_p.Q289* NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 289 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGAAGATCTTGAGAGGAAGAC 0.413 NaN 0 0 0 0.013537 0 11 25 FHL5 9457 broad.mit.edu 37 6 97051647 97051647 + Missense_Mutation SNP A A T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:97051647A>T uc003pos.1 + 3 563 c.158A>T c.(157-159)AAG>ATG p.K53M FHL5_uc003pot.1_Missense_Mutation_p.K53M NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 53 LIM zinc-binding 1. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TCTGATTCTAAGGTAAGTCTC 0.358 NaN 0 0 0 0.00874 0 42 64 SIM1 6492 broad.mit.edu 37 6 100841697 100841697 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:100841697G>A uc003pqj.3 - 10 1443 c.1236C>T c.(1234-1236)ACC>ACT p.T412T SIM1_uc010kcu.2_Silent_p.T412T NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 412 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGGCCGTGTCGGTCAAGGGAC 0.572 NaN 0 0 0 0.014323 0 21 22 TRAF3IP2 10758 broad.mit.edu 37 6 111913025 111913025 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:111913025C>T uc011ebc.1 - 3 880 c.265G>A c.(265-267)GAG>AAG p.E89K TRAF3IP2_uc003pvg.2_Missense_Mutation_p.E89K|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.E89K|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.E89K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.E89K NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 98 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) TCACTGTCCTCCAGAACTTGA 0.567 NaN 0 0 0 0.004289 0 37 55 C6orf174 387104 broad.mit.edu 37 6 127797109 127797109 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:127797109C>T uc003qbd.2 - 6 2927 c.2062G>A c.(2062-2064)GAC>AAC p.D688N C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 688 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CGCGCGCTGTCGTGGCCGCCG 0.652 NaN 0 0 0 0.003954 0 22 37 MYB 4602 broad.mit.edu 37 6 135521495 135521495 + Missense_Mutation SNP G G A rs113182184 byFrequency TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:135521495G>A uc003qfc.2 + 12 1728 c.1529G>A c.(1528-1530)GGA>GAA p.G510E MYB_uc003qfh.2_Missense_Mutation_p.G631E|MYB_uc003qfi.2_Missense_Mutation_p.G615E|MYB_uc010kgi.2_Missense_Mutation_p.G510E|MYB_uc003qfq.2_Missense_Mutation_p.G628E|MYB_uc010kgj.2_Missense_Mutation_p.G475E|MYB_uc003qfo.2_Missense_Mutation_p.G425E|MYB_uc003qfu.2_Missense_Mutation_p.G507E|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.G136E|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.G322E|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G510E NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 510 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GATGAATCTGGAATTGTTGCT 0.428 NaN T NFIB adenoid cystic carcinoma 0 0 0 0.00874 0 45 50 PDE7B 27115 broad.mit.edu 37 6 136502427 136502427 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:136502427G>C uc003qgp.2 + 11 1314 c.1011G>C c.(1009-1011)TGG>TGC p.W337C uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.W389C NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 337 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(1) 1 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GCAAGCAGTGGAGTGAAAGGG 0.438 NaN 0 0 0 0.004656 0 25 119 GPR126 57211 broad.mit.edu 37 6 142691518 142691518 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:142691518G>C uc010khc.2 + 4 1068 c.657G>C c.(655-657)AAG>AAC p.K219N GPR126_uc010khd.2_Missense_Mutation_p.K219N|GPR126_uc010khe.2_Missense_Mutation_p.K219N|GPR126_uc010khf.2_Missense_Mutation_p.K219N|GPR126_uc003qix.2_Missense_Mutation_p.K219N NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 219 Pentaxin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GAAAGGCCAAGAGTGGCTACT 0.388 NaN 0 0 0 0.013537 0 11 31 PPIL4 85313 broad.mit.edu 37 6 149856762 149856762 + Missense_Mutation SNP T T C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:149856762T>C uc003qmo.1 - 5 464 c.434A>G c.(433-435)GAC>GGC p.D145G PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.D145G NM_139126 NP_624311 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase-like 4 145 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) AAAGTCCTTGTCAACAAAGGT 0.353 NaN 0 0 0 0.004878 0 38 77 ARID1B 57492 broad.mit.edu 37 6 157502230 157502230 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:157502230C>T uc003qqn.2 + 12 3361 c.3209C>T c.(3208-3210)TCA>TTA p.S1070L ARID1B_uc003qqo.2_Missense_Mutation_p.S1030L|ARID1B_uc003qqp.2_Missense_Mutation_p.S1017L|ARID1B_uc010kjl.2_Missense_Mutation_p.S215L NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1075 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCTCCTGTCTCAAGTCTGCCT 0.562 NaN 0 0 0 0.010504 0 19 21 SYNJ2 8871 broad.mit.edu 37 6 158499228 158499228 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:158499228G>C uc003qqx.1 + 18 2557 c.2482G>C c.(2482-2484)GAT>CAT p.D828H SYNJ2_uc003qqw.1_Missense_Mutation_p.D828H|SYNJ2_uc003qqy.1_Missense_Mutation_p.D541H|SYNJ2_uc003qqz.1_Missense_Mutation_p.D445H|SYNJ2_uc003qra.1_Missense_Mutation_p.D171H NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 828 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CAGTGATCTAGATGTTGACAC 0.493 NaN 0 0 0 0.010504 0 21 103 THBS2 7058 broad.mit.edu 37 6 169648940 169648940 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr6:169648940C>T uc003qwt.2 - 4 429 c.181G>A c.(181-183)GAC>AAC p.D61N NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 61 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGGATGTAGTCAAAGCGCACG 0.602 NaN 0 0 0 0.008871 0 20 26 LFNG 3955 broad.mit.edu 37 7 2565141 2565141 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:2565141C>T uc003smf.2 + 4 692 c.675C>T c.(673-675)GTC>GTT p.V225V LFNG_uc003smg.2_Silent_p.V225V NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN lunatic fringe isoform a 225 Lumenal (Potential). organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) ACGTCTACGTCGGCAAGCCCA 0.677 NaN 0 0 0 0.004482 0 8 14 PMS2 5395 broad.mit.edu 37 7 6027006 6027006 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:6027006C>T uc003spl.2 - 11 1477 c.1390G>A c.(1390-1392)GAC>AAC p.D464N PMS2_uc003spj.2_Missense_Mutation_p.D358N|PMS2_uc003spk.2_Missense_Mutation_p.D329N|PMS2_uc011jwl.1_Missense_Mutation_p.D329N|PMS2_uc010ktg.2_Missense_Mutation_p.D153N|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.D464N NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 464 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) ACGCCTTTGTCAGAGATGGCA 0.562 NaN Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 0.00874 0 45 111 BZW2 28969 broad.mit.edu 37 7 16714045 16714045 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:16714045G>C uc003stl.2 + 3 245 c.67G>C c.(67-69)GAG>CAG p.E23Q BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Missense_Mutation_p.E23Q|BZW2_uc003stk.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.E23Q|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Missense_Mutation_p.E23Q NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 23 cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) AGATGAAAAAGAGAAATTCGA 0.328 NaN 0 0 0 0.007413 0 18 122 C7orf46 340277 broad.mit.edu 37 7 23731113 23731113 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:23731113G>A uc003swo.3 + 4 624 c.535G>A c.(535-537)GAA>AAA p.E179K C7orf46_uc003swq.3_Missense_Mutation_p.E179K|C7orf46_uc003swr.3_Missense_Mutation_p.E121K|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA NM_199136 NP_954587 A4D161 CG046_HUMAN hypothetical protein LOC340277 isoform 1 179 0 ATTGGCTCAGGAAAAACCAGT 0.493 NaN 0 0 0 0.01441 0 57 137 TAX1BP1 8887 broad.mit.edu 37 7 27797748 27797748 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:27797748C>T uc003szl.2 + 3 419 c.261C>T c.(259-261)TTC>TTT p.F87F TAX1BP1_uc011jzo.1_Silent_p.F87F|TAX1BP1_uc003szk.2_Silent_p.F87F|TAX1BP1_uc011jzp.1_5'UTR NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 87 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) TACTAGCATTCCAAGGTAAGG 0.348 NaN 0 0 0 0.008871 0 20 110 CHN2 1124 broad.mit.edu 37 7 29234571 29234571 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:29234571G>A uc003szz.2 + 1 451 c.14G>A c.(13-15)AGC>AAC p.S5N CHN2_uc011jzs.1_Intron|CHN2_uc010kva.2_Missense_Mutation_p.S5N|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_5'UTR|CHN2_uc011jzt.1_Missense_Mutation_p.S5N|CHN2_uc010kvd.2_Missense_Mutation_p.S5N|CHN2_uc011jzu.1_5'Flank|CPVL_uc003szx.2_Intron NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 5 MAASSN -> MRLL (in Ref. 1; AAA16836/ AAA19191). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 gcagcgTCCAGCAACTCCAGC 0.383 NaN 0 0 0 0.006214 0 7 18 BMPER 168667 broad.mit.edu 37 7 34125385 34125385 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:34125385G>C uc011kap.1 + 13 1540 c.1426G>C c.(1426-1428)GAT>CAT p.D476H NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 476 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AATATCTTGGGATGGAGACAG 0.423 NaN 0 0 0 0.00308 0 8 47 TARP 445347 broad.mit.edu 37 7 38305062 38305062 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:38305062G>C uc003tge.1 - 5 1022 c.645C>G c.(643-645)AGC>AGG p.S215R uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.S11R|TARP_uc003tgc.1_Missense_Mutation_p.S11R|TARP_uc003tgd.1_Missense_Mutation_p.S11R|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 CCGTTAACCAGCTAAATTTCA 0.393 NaN 0 0 0 0.01441 0 54 266 NPC1L1 29881 broad.mit.edu 37 7 44579102 44579102 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:44579102G>A uc003tlb.2 - 2 950 c.894C>T c.(892-894)GTC>GTT p.V298V NPC1L1_uc003tlc.2_Silent_p.V298V|NPC1L1_uc011kbw.1_Silent_p.V298V|NPC1L1_uc003tld.2_Silent_p.V298V NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 298 Helical; Name=1; (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GCAGGATGGTGACCACAGCGA 0.612 NaN 0 0 0 0.007413 0 20 87 TNS3 64759 broad.mit.edu 37 7 47467943 47467943 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:47467943G>A uc003tnv.2 - 9 723 c.356C>T c.(355-357)TCA>TTA p.S119L TNS3_uc003tnw.2_Missense_Mutation_p.S119L|TNS3_uc010kyo.1_Missense_Mutation_p.S119L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 119 Phosphatase tensin-type. focal adhesion protein binding ovary(4) 4 CATGTAGGATGATATGACCAC 0.493 NaN 0 0 0 0.00632 0 25 93 SUN3 256979 broad.mit.edu 37 7 48046822 48046822 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:48046822C>T uc003tof.2 - 6 529 c.432G>A c.(430-432)ATG>ATA p.M144I SUN3_uc010kyq.2_Missense_Mutation_p.M44I|SUN3_uc003tog.2_Missense_Mutation_p.M144I|SUN3_uc011kcf.1_Missense_Mutation_p.M132I NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 144 Potential. integral to membrane central_nervous_system(1) 1 GATTATTGTCCATACCATCCT 0.483 NaN 0 0 0 0.008871 0 21 70 ZNF713 349075 broad.mit.edu 37 7 56007179 56007179 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:56007179C>T uc003trc.1 + 4 811 c.773C>T c.(772-774)TCA>TTA p.S258L ZNF713_uc003tra.1_Missense_Mutation_p.S271L|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGCCACACCTCATCTCTTAGC 0.423 NaN 0 0 0 0.003954 0 24 65 CLDN4 1364 broad.mit.edu 37 7 73246019 73246019 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:73246019C>T uc003tzi.3 + 1 827 c.488C>T c.(487-489)TCG>TTG p.S163L RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA NM_001305 NP_001296 O14493 CLD4_HUMAN claudin 4 163 Helical; (Potential). calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity 0 Lung NSC(55;0.159) ATGGGTGCCTCGCTCTACGTC 0.637 NaN 0 0 0 0.006214 0 7 28 TMEM130 222865 broad.mit.edu 37 7 98460916 98460916 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:98460916C>T uc003upo.2 - 2 382 c.193G>A c.(193-195)GCT>ACT p.A65T TMEM130_uc011kiq.1_Missense_Mutation_p.A46T|TMEM130_uc011kir.1_Missense_Mutation_p.A65T|TMEM130_uc003upn.2_Intron NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 65 Extracellular (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGGCGTCAGCGGGCAGGGCC 0.642 NaN 0 0 0 0.00308 0 6 11 SLC26A4 5172 broad.mit.edu 37 7 107342406 107342406 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:107342406C>G uc003vep.2 + 17 2162 c.1938C>G c.(1936-1938)GTC>GTG p.V646V SLC26A4_uc011kmb.1_Silent_p.V233V|SLC26A4_uc011kmc.1_Silent_p.V207V|SLC26A4_uc011kmd.1_Silent_p.V215V NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 646 STAS.|Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 AGCTTCCAGTCAAAGTGAACG 0.453 NaN Pendred_syndrome 0 0 0 0.001855 0 14 76 LRRN3 54674 broad.mit.edu 37 7 110764893 110764893 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:110764893G>C uc003vft.3 + 4 3111 c.2065G>C c.(2065-2067)GAA>CAA p.E689Q IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E689Q|LRRN3_uc003vfs.3_Missense_Mutation_p.E689Q NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 689 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AGCAGGAAAAGAAAAAAGTAC 0.368 NaN 0 0 0 0.010729 0 11 84 DOCK4 9732 broad.mit.edu 37 7 111634279 111634279 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:111634279C>G uc003vfx.2 - 5 495 c.226G>C c.(226-228)GAA>CAA p.E76Q DOCK4_uc003vfy.2_Missense_Mutation_p.E76Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.E76Q|DOCK4_uc003vgb.1_5'UTR NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 76 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ATAACCATTTCAAATTGTCTG 0.308 NaN 0 0 0 0.014323 0 23 89 C7orf60 154743 broad.mit.edu 37 7 112579712 112579712 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:112579712C>T uc003vgo.1 - 1 221 c.94G>A c.(94-96)GAG>AAG p.E32K C7orf60_uc011kms.1_Missense_Mutation_p.E32K NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 32 ovary(2)|skin(1) 3 TTCTCCTGCTCCAGTTTCCGC 0.647 NaN 0 0 0 0.001984 0 7 28 CTTNBP2 83992 broad.mit.edu 37 7 117400556 117400556 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:117400556C>T uc003vjf.2 - 10 3197 c.3105G>A c.(3103-3105)GTG>GTA p.V1035V NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1035 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) TATTGCAAGTCACGTCTTCCA 0.453 NaN 0 0 0 0.008361 0 29 180 ING3 54556 broad.mit.edu 37 7 120614801 120614801 + Missense_Mutation SNP A A C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:120614801A>C uc003vjn.2 + 12 1294 c.1160A>C c.(1159-1161)CAT>CCT p.H387P ING3_uc003vjo.2_Missense_Mutation_p.H161P|ING3_uc003vjp.2_3'UTR|ING3_uc011kns.1_Missense_Mutation_p.H372P NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 387 PHD-type. histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) GAATGGTTCCATTATGGCTGC 0.413 NaN 0 0 0 0.00308 0 6 53 PTPRZ1 5803 broad.mit.edu 37 7 121701184 121701184 + Missense_Mutation SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:121701184G>T uc003vjy.2 + 30 7253 c.6858G>T c.(6856-6858)AGG>AGT p.R2286S PTPRZ1_uc003vjz.2_Missense_Mutation_p.R1419S|PTPRZ1_uc011knt.1_Missense_Mutation_p.R876S NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 2286 Cytoplasmic (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TGAGCACAAGGCAGGAAGAGA 0.443 NaN 1 0 8.16277e-20 0.006999 8.5714e-20 41 50 NDUFA5 4698 broad.mit.edu 37 7 123197496 123197496 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:123197496C>T uc003vks.2 - 2 137 c.28G>A c.(28-30)GGC>AGC p.G10S NDUFA5_uc003vkr.2_RNA|NDUFA5_uc003vkt.1_Missense_Mutation_p.G10S NM_005000 NP_004991 Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 10 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) CCCACAAGGCCAGTGGTCTGT 0.438 NaN 0 0 0 0.010729 0 12 44 SND1 27044 broad.mit.edu 37 7 127344995 127344995 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:127344995G>C uc003vmi.2 + 8 1169 c.943G>C c.(943-945)GAG>CAG p.E315Q NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 315 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GAGGGCGGCAGAGAGGTAAGG 0.532 NaN 0 0 0 0.009096 0 4 35 ZC3HC1 51530 broad.mit.edu 37 7 129691140 129691140 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:129691140G>A uc003vpi.2 - 1 94 c.67C>T c.(67-69)CGC>TGC p.R23C NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 23 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) TCTGGGGAGCGAACTACTGCA 0.597 NaN 0 0 0 0.010729 0 12 69 DGKI 9162 broad.mit.edu 37 7 137075986 137075986 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:137075986C>A uc003vtt.2 - 34 3179 c.3178G>T c.(3178-3180)GAC>TAC p.D1060Y DGKI_uc003vtu.2_Missense_Mutation_p.D729Y NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 1060 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 GTTTCCAGGTCCTCATGGCCA 0.527 NaN 1 0 2.12542e-12 0.00632 2.21335e-12 26 115 EPHA1 2041 broad.mit.edu 37 7 143095738 143095738 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:143095738G>A uc003wcz.2 - 6 1379 c.1292C>T c.(1291-1293)TCT>TTT p.S431F NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 431 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGCATGGCCAGAGCTGCCCAG 0.572 NaN 0 0 0 0.006214 0 10 60 CUL1 8454 broad.mit.edu 37 7 148427336 148427336 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:148427336G>A uc010lpg.2 + 2 648 c.122G>A c.(121-123)AGA>AAA p.R41K CUL1_uc003wey.2_Missense_Mutation_p.R41K|CUL1_uc003wez.2_5'UTR NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 41 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCCAAGTCCAGATATATGGAG 0.478 NaN 0 0 0 0.00245 0 14 89 GIMAP8 155038 broad.mit.edu 37 7 150164398 150164398 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr7:150164398C>T uc003whj.2 + 2 942 c.612C>T c.(610-612)TTC>TTT p.F204F NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 204 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGTGAACTTCAAAACTGAAG 0.408 NaN 0 0 0 0.008871 0 20 97 CLN8 2055 broad.mit.edu 37 8 1728467 1728467 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:1728467C>T uc003wpo.3 + 3 900 c.595C>T c.(595-597)CAC>TAC p.H199Y NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 199 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) GCTGATGATTCACATGTTTCA 0.517 NaN 0 0 0 0.013537 0 11 72 ARHGEF10 9639 broad.mit.edu 37 8 1876813 1876813 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:1876813G>A uc003wpr.2 + 24 3096 c.2918G>A c.(2917-2919)GGA>GAA p.G973E ARHGEF10_uc003wps.2_Missense_Mutation_p.G935E|ARHGEF10_uc010lre.2_Missense_Mutation_p.G624E NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 998 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ACGGAGGAGGGAAGGTAGGGC 0.617 NaN 0 0 0 0.001984 0 5 37 DLC1 10395 broad.mit.edu 37 8 12947971 12947971 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:12947971C>T uc003wwm.2 - 15 4308 c.3864G>A c.(3862-3864)GAG>GAA p.E1288E DLC1_uc003wwk.1_Silent_p.E851E|DLC1_uc003wwl.1_Silent_p.E885E|DLC1_uc011kxx.1_Silent_p.E777E NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1288 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GGCTCATTTCCTCGGGAACCT 0.517 NaN 0 0 0 0.013537 0 12 47 PSD3 23362 broad.mit.edu 37 8 18729854 18729854 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:18729854C>T uc003wza.2 - 3 623 c.520G>A c.(520-522)GAC>AAC p.D174N NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 174 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTGGCAGTGTCCAGCTCTTTT 0.443 NaN 0 0 0 0.009535 0 21 118 CSGALNACT1 55790 broad.mit.edu 37 8 19316071 19316071 + Silent SNP G G T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:19316071G>T uc011kyn.1 - 5 1781 c.717C>A c.(715-717)CTC>CTA p.L239L CSGALNACT1_uc011kyo.1_Silent_p.L239L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.L238L|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 239 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) GAAATAAGATGAGCCGTTTGA 0.433 NaN 1 0 1.87469e-40 0.01441 1.99469e-40 61 200 REEP4 80346 broad.mit.edu 37 8 21997685 21997685 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:21997685C>T uc003xau.1 - 3 635 c.182G>A c.(181-183)TGG>TAG p.W61* REEP4_uc010ltt.1_Nonsense_Mutation_p.W61*|REEP4_uc011kyz.1_Nonsense_Mutation_p.W61* NM_025232 NP_079508 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 61 Helical; (Potential). integral to membrane skin(1) 1 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) GCGTCCATACCAGGAGATAAA 0.577 NaN 0 0 0 0.000602 0 4 15 EGR3 1960 broad.mit.edu 37 8 22548114 22548114 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:22548114C>G uc003xcm.1 - 2 1394 c.1036G>C c.(1036-1038)GAC>CAC p.D346H EGR3_uc011kzn.1_Missense_Mutation_p.D308H|EGR3_uc011kzo.1_Missense_Mutation_p.D292H NM_004430 NP_004421 Q06889 EGR3_HUMAN early growth response 3 346 C2H2-type 3. circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) TTGCGCTCGTCGCTGCGCGCA 0.647 NaN 0 0 0 0.003163 0 11 39 GTF2E2 2961 broad.mit.edu 37 8 30472223 30472223 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:30472223G>A uc003xig.2 - 4 521 c.268C>T c.(268-270)CAG>TAG p.Q90* NM_002095 NP_002086 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, 90 TFIIE beta. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) TCTCCTCGCTGATGCCGTGTC 0.358 NaN 0 0 0 0.010504 0 21 73 DDHD2 23259 broad.mit.edu 37 8 38090714 38090714 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:38090714G>A uc003xlb.2 + 2 579 c.202G>A c.(202-204)GAA>AAA p.E68K DDHD2_uc003xla.2_Missense_Mutation_p.E68K|DDHD2_uc003xlc.2_Missense_Mutation_p.E68K|DDHD2_uc011lbl.1_5'UTR NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 68 WWE. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) ACAGCAGCTGGAAGAGGCATA 0.388 NaN 0 0 0 0.006122 0 18 76 MCM4 4173 broad.mit.edu 37 8 48888324 48888324 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:48888324G>C uc003xqk.1 + 16 2510 c.2415G>C c.(2413-2415)TTG>TTC p.L805F MCM4_uc003xql.1_Missense_Mutation_p.L805F|MCM4_uc011ldi.1_Missense_Mutation_p.L792F NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 805 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CTGAAGCATTGAAAAAGCTTA 0.328 NaN 0 0 0 0.013537 0 13 58 CHD7 55636 broad.mit.edu 37 8 61748694 61748694 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:61748694C>T uc003xue.2 + 16 4318 c.3841C>T c.(3841-3843)CAG>TAG p.Q1281* NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1281 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCCAGATTTTCAGCTCCAGGC 0.458 NaN 0 0 0 0.001855 0 14 13 ZFHX4 79776 broad.mit.edu 37 8 77618332 77618332 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:77618332C>T uc003yav.2 + 2 2396 c.2009C>T c.(2008-2010)CCG>CTG p.P670L ZFHX4_uc003yat.1_Missense_Mutation_p.P670L|ZFHX4_uc003yau.1_Missense_Mutation_p.P670L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P670L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 670 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACCCTGAGCCGGGTGGCTCT 0.507 NaN HNSCC(33;0.089) 0 0 0 0.001168 0 5 39 MMP16 4325 broad.mit.edu 37 8 89179976 89179976 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:89179976A>G uc003yeb.3 - 4 913 c.631T>C c.(631-633)TTC>CTC p.F211L MMP16_uc003yec.2_Missense_Mutation_p.F211L NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 211 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GGTCCAGGGAAGTAGGCATGT 0.438 NaN 0 0 0 0.008871 0 19 102 NBN 4683 broad.mit.edu 37 8 90955531 90955531 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:90955531G>A uc003yej.1 - 14 2244 c.2134C>T c.(2134-2136)CAT>TAT p.H712Y NBN_uc003yei.1_Missense_Mutation_p.H630Y|NBN_uc011lgb.1_Missense_Mutation_p.H712Y NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 712 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) TTTCGAGCATGATGAGCTATT 0.393 NaN Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 0 0 0 0.01441 0 114 87 ESRP1 54845 broad.mit.edu 37 8 95653664 95653664 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:95653664C>T uc003ygq.3 + 1 301 c.118C>T c.(118-120)CTG>TTG p.L40L ESRP1_uc003ygr.3_Silent_p.L40L|ESRP1_uc003ygs.3_Silent_p.L40L|ESRP1_uc003ygt.3_Silent_p.L40L|ESRP1_uc003ygu.3_Silent_p.L40L NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 40 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 AGTCGTGGATCTGGCCAACAA 0.527 NaN 0 0 0 0.01441 0 46 37 TMEM74 157753 broad.mit.edu 37 8 109797208 109797208 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:109797208G>C uc003ymy.1 - 2 225 c.120C>G c.(118-120)CTC>CTG p.L40L TMEM74_uc003ymx.2_Intron NM_153015 NP_694560 Q96NL1 TMM74_HUMAN transmembrane protein 74 40 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TCTGACAGCAGAGAGCAGCTC 0.542 NaN 0 0 0 0.007413 0 18 121 ANXA13 312 broad.mit.edu 37 8 124693585 124693585 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:124693585C>T uc003yqu.2 - 11 919 c.846G>A c.(844-846)GGG>GGA p.G282G ANXA13_uc003yqt.2_Silent_p.G323G NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a 282 Annexin 4. cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) TTGCTTTGATCCCCTGAAGGT 0.343 NaN 0 0 0 0.01441 0 140 129 COL22A1 169044 broad.mit.edu 37 8 139629181 139629181 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:139629181G>A uc003yvd.2 - 54 4293 c.3846C>T c.(3844-3846)GGC>GGT p.G1282G COL22A1_uc011ljo.1_Silent_p.G562G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1282 Pro-rich.|Gly-rich.|Collagen-like 12. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CACCAGAATCGCCTGTGTGTC 0.587 NaN HNSCC(7;0.00092) 0 0 0 0.01441 0 64 37 CPSF1 29894 broad.mit.edu 37 8 145622704 145622704 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:145622704C>T uc003zcj.2 - 22 2458 c.2383G>A c.(2383-2385)GAG>AAG p.E795K NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 795 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCACCTACCTCCATGGTGCCA 0.682 NaN 0 0 0 0.010729 0 12 9 ZNF7 7553 broad.mit.edu 37 8 146068042 146068042 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:146068042G>A uc003zeg.3 + 5 1687 c.1550G>A c.(1549-1551)AGA>AAA p.R517K ZNF7_uc010mge.2_Missense_Mutation_p.R528K|ZNF7_uc011lln.1_Missense_Mutation_p.R421K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.R421K|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 517 C2H2-type 10. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TACCATCAGAGAATCCATAAA 0.453 NaN 0 0 0 0.001855 0 14 102 C8orf33 65265 broad.mit.edu 37 8 146279413 146279413 + Nonsense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr8:146279413C>G uc003zfc.3 + 5 614 c.560C>G c.(559-561)TCA>TGA p.S187* C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 187 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) GCTGCTTATTCAGCCCAGGTG 0.393 NaN 0 0 0 0.01441 0 160 148 DOCK8 81704 broad.mit.edu 37 9 422091 422091 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:422091G>A uc003zgf.2 + 33 4309 c.4197G>A c.(4195-4197)AAG>AAA p.K1399K DOCK8_uc010mgu.2_Silent_p.K701K|DOCK8_uc010mgv.2_Silent_p.K1299K|DOCK8_uc003zgk.2_Silent_p.K857K NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1399 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGAGATGGAAGAAAGAGCAGA 0.398 NaN 0 0 0 0.012319 0 17 24 DOCK8 81704 broad.mit.edu 37 9 429848 429848 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:429848C>T uc003zgf.2 + 36 4732 c.4620C>T c.(4618-4620)GCC>GCT p.A1540A DOCK8_uc010mgu.2_Silent_p.A842A|DOCK8_uc010mgv.2_Silent_p.A1440A|DOCK8_uc003zgk.2_Silent_p.A998A NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1540 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GTTTTGGAGCCACCAGTGTAA 0.468 NaN 0 0 0 0.00499 0 18 27 RFK 55312 broad.mit.edu 37 9 79002362 79002362 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:79002362C>T uc004akd.2 - 4 778 c.442G>A c.(442-444)GAC>AAC p.D148N RFK_uc004ake.2_3'UTR NM_018339 NP_060809 Q969G6 RIFK_HUMAN riboflavin kinase 141 riboflavin biosynthetic process cytosol ATP binding|metal ion binding|riboflavin kinase activity 0 Riboflavin(DB00140) AAGAAATTGTCTTCTTTGATT 0.313 NaN 0 0 0 0.01441 0 70 108 FAM22F 54754 broad.mit.edu 37 9 97082700 97082700 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:97082700G>C uc004aup.1 - 5 1179 c.1158C>G c.(1156-1158)GTC>GTG p.V386V NM_017561 NP_060031 A1L443 FA22F_HUMAN hypothetical protein LOC54754 386 Pro-rich. 0 Acute lymphoblastic leukemia(62;0.136) TCTCCTCAGGGACCTTGGTCT 0.667 NaN 0 0 0 0.013726 0 30 40 SNX30 401548 broad.mit.edu 37 9 115598511 115598511 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:115598511G>A uc004bgj.3 + 5 784 c.636G>A c.(634-636)AAG>AAA p.K212K SNX30_uc004bgi.3_5'Flank NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 212 cell communication|protein transport cytoplasm phosphatidylinositol binding 0 ACGCCTACAAGAAGCAAGGGA 0.498 NaN 0 0 0 0.012319 0 23 163 ZFP37 7539 broad.mit.edu 37 9 115805331 115805331 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:115805331C>G uc004bgm.1 - 4 1595 c.1567G>C c.(1567-1569)GGG>CGG p.G523R ZFP37_uc011lwz.1_Missense_Mutation_p.G538R|ZFP37_uc011lxa.1_Missense_Mutation_p.G524R NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 523 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AAGCCTTTCCCACATTGATTA 0.388 NaN 0 0 0 0.005524 0 39 77 COL27A1 85301 broad.mit.edu 37 9 117027210 117027210 + Missense_Mutation SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:117027210C>G uc011lxl.1 + 30 3256 c.3256C>G c.(3256-3258)CCA>GCA p.P1086A COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1086 Pro-rich.|Collagen-like 8.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 ACAGGGCCCTCCAGGACCCCA 0.612 NaN 0 0 0 0.010771 0 39 42 FAM125B 89853 broad.mit.edu 37 9 129157918 129157918 + Nonsense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:129157918C>T uc004bqh.1 + 6 685 c.604C>T c.(604-606)CAA>TAA p.Q202* FAM125B_uc004bqg.1_Nonsense_Mutation_p.Q202*|FAM125B_uc011lzy.1_Nonsense_Mutation_p.Q187*|FAM125B_uc010mxd.2_Nonsense_Mutation_p.Q195*|FAM125B_uc011lzz.1_Nonsense_Mutation_p.Q195* NM_033446 NP_258257 Q9H7P6 F125B_HUMAN hypothetical protein LOC89853 isoform 1 202 protein transport late endosome membrane 0 TGACTCATCTCAACCCACAAC 0.522 NaN 0 0 0 0.004656 0 26 143 RALGPS1 9649 broad.mit.edu 37 9 129958857 129958857 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:129958857G>A uc004bqo.1 + 13 1409 c.1142G>A c.(1141-1143)CGA>CAA p.R381Q RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 381 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 CGCAGCCCCCGAAGGGGCCTG 0.577 NaN 0 0 0 0.01441 0 61 47 CRAT 1384 broad.mit.edu 37 9 131864290 131864290 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:131864290G>A uc004bxh.2 - 6 959 c.677C>T c.(676-678)GCG>GTG p.A226V CRAT_uc004bxg.2_Missense_Mutation_p.A205V|CRAT_uc004bxk.3_Missense_Mutation_p.A205V NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 226 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GATCTGATCCGCAGTGAGGGG 0.567 NaN 0 0 0 0.009096 0 4 38 ABL1 25 broad.mit.edu 37 9 133760298 133760298 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:133760298G>A uc004bzw.2 + 11 2624 c.2621G>A c.(2620-2622)AGA>AAA p.R874K ABL1_uc004bzv.2_Missense_Mutation_p.R893K NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 874 DNA-binding (By similarity).|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GAGGAGTCCAGAGTGAGGAGG 0.667 NaN T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 0 0 0 0.001984 0 5 12 RAPGEF1 2889 broad.mit.edu 37 9 134454941 134454941 + Silent SNP C C G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:134454941C>G uc004cbc.2 - 24 3307 c.3177G>C c.(3175-3177)CTG>CTC p.L1059L RAPGEF1_uc004cbb.2_Silent_p.L1077L NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 1059 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GTTTAATTTTCAGAGACAGTT 0.517 NaN 0 0 0 0.003271 0 34 148 MED27 9442 broad.mit.edu 37 9 134952861 134952861 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:134952861G>C uc004cbe.1 - 2 338 c.316C>G c.(316-318)CAA>GAA p.Q106E MED27_uc004cbf.1_Missense_Mutation_p.Q106E|MED27_uc011mco.1_Missense_Mutation_p.Q106E|MED27_uc004cbg.3_Missense_Mutation_p.Q106E NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 106 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) TGAAGGAGTTGACTATAGAGA 0.418 NaN 0 0 0 0.01441 0 43 213 TSC1 7248 broad.mit.edu 37 9 135781419 135781419 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:135781419G>A uc004cca.2 - 15 1780 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* TSC1_uc004ccb.3_Nonsense_Mutation_p.Q515*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q465*|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 516 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GTCTTCCGCTGAGAACCTGGG 0.567 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 0.010504 0 21 19 FCN2 2220 broad.mit.edu 37 9 137777709 137777709 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:137777709G>A uc004cfg.1 + 6 535 c.525G>A c.(523-525)CTG>CTA p.L175L FCN2_uc004cfh.1_Silent_p.L137L NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 175 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AGTTCTGGCTGGGGAATGACA 0.672 NaN 0 0 0 0.004656 0 26 24 FCN1 2219 broad.mit.edu 37 9 137804336 137804336 + Silent SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr9:137804336G>C uc004cfi.2 - 7 686 c.594C>G c.(592-594)GCC>GCG p.A198A NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 198 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CCCTACCCTGGGCAGTCAGGG 0.642 NaN 0 0 0 0.001168 0 4 13 IL3RA 3563 broad.mit.edu 37 X 1475113 1475113 + Splice_Site SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:1475113G>A uc004cps.2 + 7 966 c.617_splice c.e7-1 p.E206_splice IL3RA_uc011mhd.1_Splice_Site_p.E128_splice NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CTCGTTGCTAGAGATATTAAC 0.328 NaN 0 0 0 0.01441 0 52 171 MXRA5 25878 broad.mit.edu 37 X 3239350 3239350 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:3239350G>A uc004crg.3 - 5 4533 c.4376C>T c.(4375-4377)ACC>ATC p.T1459I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1459 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTGATCAAGGGTGGTGGTTTC 0.488 NaN 0 0 0 0.00623 0 40 32 ARHGAP6 395 broad.mit.edu 37 X 11272742 11272742 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:11272742G>A uc004cup.1 - 2 1547 c.674C>T c.(673-675)GCC>GTC p.A225V ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A225V|ARHGAP6_uc004cum.1_Missense_Mutation_p.A22V|ARHGAP6_uc004cun.1_Missense_Mutation_p.A45V|ARHGAP6_uc010neb.1_Missense_Mutation_p.A47V|ARHGAP6_uc011mif.1_Missense_Mutation_p.A22V NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 225 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CTGCAGCCGGGCCCTCTCCAG 0.547 NaN 0 0 0 0.005443 0 27 29 MAGEB10 139422 broad.mit.edu 37 X 27840056 27840056 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:27840056C>T uc004dbw.2 + 3 860 c.633C>T c.(631-633)ATC>ATT p.I211I NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 211 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 TGGGTATTATCTTCACAAATG 0.473 NaN 0 0 0 0.003163 0 15 38 ARAF 369 broad.mit.edu 37 X 47422403 47422403 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:47422403G>A uc011mlq.1 + 2 170 c.37G>A c.(37-39)GAG>AAG p.E13K ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Missense_Mutation_p.E13K|ARAF_uc004dic.1_5'Flank NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 13 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) CAATGGGGCCGAGCCATCCCG 0.627 NaN OREG0019758 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 3 GNL3L 54552 broad.mit.edu 37 X 54569458 54569458 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:54569458A>G uc004dth.1 + 6 516 c.377A>G c.(376-378)AAG>AGG p.K126R GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 126 ribosome biogenesis nucleolus GTP binding ovary(1) 1 GCTTATTACAAGGAGTTCCGT 0.453 NaN 0 0 0 0.00278 0 23 15 LAS1L 81887 broad.mit.edu 37 X 64753613 64753613 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:64753613G>A uc004dwa.1 - 2 311 c.239C>T c.(238-240)TCA>TTA p.S80L LAS1L_uc004dwc.1_Missense_Mutation_p.S80L|LAS1L_uc004dwd.1_Intron NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 80 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 TTCGTTGCCTGACCTAAAGGG 0.517 NaN 0 0 0 0.009535 0 23 17 DIAPH2 1730 broad.mit.edu 37 X 96136711 96136711 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:96136711C>T uc004efu.3 + 5 977 c.581C>T c.(580-582)CCG>CTG p.P194L DIAPH2_uc004eft.3_Missense_Mutation_p.P194L|DIAPH2_uc004efs.2_Missense_Mutation_p.P201L|RPA4_uc004efv.3_5'Flank NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 194 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 ACCAGCAATCCGGTCAGGTAA 0.343 NaN 0 0 0 0.01441 0 51 33 BTK 695 broad.mit.edu 37 X 100608277 100608277 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:100608277C>T uc004ehg.2 - 18 2006 c.1813G>A c.(1813-1815)GAG>AAG p.E605K BTK_uc004ehf.2_Missense_Mutation_p.E105K|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.E81K|BTK_uc010nnm.2_Missense_Mutation_p.E175K|BTK_uc010nnn.2_Missense_Mutation_p.E429K|BTK_uc010nno.2_Missense_Mutation_p.E639K NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 605 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TCAGCAGTCTCACTGTTAGTA 0.433 NaN Agammaglobulinemia_X-linked 0 0 0 0.01441 0 110 88 PAK3 5063 broad.mit.edu 37 X 110395674 110395674 + Missense_Mutation SNP C C T rs139949467 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:110395674C>T uc004epa.2 + 5 539 c.512C>T c.(511-513)TCG>TTG p.S171L PAK3_uc010npt.1_Missense_Mutation_p.S156L|PAK3_uc010npu.1_Missense_Mutation_p.S156L|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.S156L|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.S192L|PAK3_uc010npw.1_Missense_Mutation_p.S177L NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 171 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GCCCATCCTTCGGTAAGTGAA 0.338 NaN TSP Lung(19;0.15) 0 0 0 0.006122 0 17 57 TKTL1 8277 broad.mit.edu 37 X 153524334 153524334 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:153524334C>T uc004fkg.2 + 1 308 c.122C>T c.(121-123)TCC>TTC p.S41F TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.S41F|TKTL1_uc011mzm.1_Missense_Mutation_p.S41F NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 41 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCACATGCTCCACGAGCTCC 0.622 NaN 0 0 0 0.00499 0 18 53 PLXNA3 55558 broad.mit.edu 37 X 153697282 153697282 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:153697282C>T uc004flm.2 + 25 4577 c.4404C>T c.(4402-4404)CTC>CTT p.L1468L NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1468 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGACAAGCTCATCCGTCAGC 0.612 NaN 0 0 0 0.004878 0 34 23 USP9Y 8287 broad.mit.edu 37 Y 14832567 14832567 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrY:14832567C>A uc004fst.1 + 4 1087 c.142C>A c.(142-144)CCT>ACT p.P48T USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 48 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 AGCAACTCCTCCTCCAGAGGA 0.403 NaN 1 0 6.36457e-07 0.003954 6.53519e-07 25 28 TNFRSF25 8718 broad.mit.edu 37 1 6525566 6525567 + Frame_Shift_Ins INS - - G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:6525566_6525567insG uc001ane.2 - 2 181_182 c.93_94insC c.(91-96)CCCAGGfs p.P31fs TNFRSF25_uc001ana.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001ang.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001anh.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001ani.1_Frame_Shift_Ins_p.P31fs NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 31_32 Extracellular (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CAGTCACACCTGGGGCTACGAG 0.673 NaN NaN NaN NaN NaN NaN 9 43 --- --- ENO1 2023 broad.mit.edu 37 1 8927225 8927226 + Frame_Shift_Ins INS - - GG rs144538182 by1000genomes TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:8927225_8927226insGG uc001apj.1 - 6 545_546 c.394_395insCC c.(394-396)CGCfs p.R132fs ENO1_uc001api.1_Frame_Shift_Ins_p.R36fs|ENO1_uc001apk.1_Frame_Shift_Ins_p.R77fs|ENO1_uc001apl.1_Frame_Shift_Ins_p.R132fs|ENO1_uc009vmi.1_Frame_Shift_Ins_p.R89fs|ENO1_uc009vmj.1_Frame_Shift_Ins_p.R132fs|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Frame_Shift_Ins_p.R132fs NM_001428 NP_001419 P06733 ENOA_HUMAN enolase 1 132 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|kidney(1)|central_nervous_system(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGCGATGTGGCGGTACAGGGGG 0.559 NaN NaN NaN NaN NaN NaN 9 81 --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:40713708_40713709delTC uc001cfe.2 + 1 136_137 c.43_44delTC c.(43-45)TCTfs p.S15fs NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane ovary(1) 1 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 NaN NaN NaN NaN NaN NaN 8 810 --- --- ARHGEF11 9826 broad.mit.edu 37 1 156911698 156911698 + Frame_Shift_Del DEL G G - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr1:156911698delG uc001fqo.2 - 33 4330 c.3290delC c.(3289-3291)CCAfs p.P1097fs ARHGEF11_uc010phu.1_Frame_Shift_Del_p.P513fs|ARHGEF11_uc001fqn.2_Frame_Shift_Del_p.P1137fs NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1097 Poly-Pro. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGGGGACCTGGGGGTGGAGG 0.647 NaN NaN NaN NaN NaN NaN 14 81 --- --- TSKU 25987 broad.mit.edu 37 11 76507283 76507284 + Frame_Shift_Ins INS - - C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr11:76507283_76507284insC uc001oxt.2 + 2 795_796 c.623_624insC c.(622-624)CGCfs p.R208fs NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 208 LRR 7. extracellular region 0 Ovarian(111;0.112) TTGCCCCTGCGCTACCTGAGCC 0.673 NaN NaN NaN NaN NaN NaN 43 127 --- --- MBD6 114785 broad.mit.edu 37 12 57920933 57920934 + Frame_Shift_Ins INS - - C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr12:57920933_57920934insC uc001soj.1 + 7 2229_2230 c.2005_2006insC c.(2005-2007)GCCfs p.A669fs MBD6_uc001sok.1_Frame_Shift_Ins_p.A536fs|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 669 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CCCACTTTCAGCCCCCCCTACC 0.639 NaN NaN NaN NaN NaN NaN 10 38 --- --- KEAP1 9817 broad.mit.edu 37 19 10599968 10599969 + Frame_Shift_Ins INS - - CA TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr19:10599968_10599969insCA uc002moq.1 - 5 1763_1764 c.1607_1608insTG c.(1606-1608)CGCfs p.R536fs KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Frame_Shift_Ins_p.R536fs NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 536 Kelch 5. 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) CCACATCGTAGCGCTCCACGCT 0.574 NaN NaN NaN NaN NaN NaN 11 27 --- --- ZNF513 130557 broad.mit.edu 37 2 27603057 27603058 + Frame_Shift_Del DEL CA CA - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:27603057_27603058delCA uc002rkk.2 - 2 313_314 c.113_114delTG c.(112-114)TTGfs p.L38fs ZNF513_uc002rkj.2_5'UTR NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 38 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTAGTAGCAAATCACTCTC 0.574 NaN NaN NaN NaN NaN NaN 47 153 --- --- GPR17 2840 broad.mit.edu 37 2 128408472 128408473 + Frame_Shift_Ins INS - - T rs17852981 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:128408472_128408473insT uc010yzn.1 + 4 858_859 c.247_248insT c.(247-249)CTTfs p.L83fs LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Frame_Shift_Ins_p.L83fs|GPR17_uc010yzo.1_Frame_Shift_Ins_p.L55fs|GPR17_uc002tpd.2_Frame_Shift_Ins_p.L55fs NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 83 Helical; Name=1; (Potential). L -> F (in Ref. 5; AAH31653). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) GGCTCTGTGGCTTTTCATCCGA 0.381 NaN NaN NaN NaN NaN NaN 38 111 --- --- LASS6 253782 broad.mit.edu 37 2 169571567 169571572 + In_Frame_Del DEL ATATGT ATATGT - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:169571567_169571572delATATGT uc002ueb.1 + 7 790_795 c.666_671delATATGT c.(664-672)TCATATGTC>TCC p.YV223del LASS6_uc002uec.1_In_Frame_Del_p.YV223del NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 223_224 Helical; (Potential).|TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 TTACCTTTTCATATGTCAACAATATG 0.374 NaN NaN NaN NaN NaN NaN 104 186 --- --- SDPR 8436 broad.mit.edu 37 2 192701073 192701073 + Frame_Shift_Del DEL C C - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr2:192701073delC uc002utb.2 - 2 1184 c.854delG c.(853-855)GGAfs p.G285fs NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 285 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GGAGCTTTTTCCTGAGGATAT 0.458 NaN NaN NaN NaN NaN NaN 130 291 --- --- ITGA9 3680 broad.mit.edu 37 3 37695244 37695257 + Frame_Shift_Del DEL GCAGACCTGCAGCT GCAGACCTGCAGCT - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:37695244_37695257delGCAGACCTGCAGCT uc003chd.2 + 17 1932_1945 c.1879_1892delGCAGACCTGCAGCT c.(1879-1893)GCAGACCTGCAGCTTfs p.A627fs NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 627_631 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGACTGTGCCGCAGACCTGCAGCTTCAGGGTAAA 0.505 NaN NaN NaN NaN NaN NaN 33 125 --- --- IMPG2 50939 broad.mit.edu 37 3 100964653 100964654 + Frame_Shift_Ins INS - - A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:100964653_100964654insA uc003duq.1 - 12 1738_1739 c.1535_1536insT c.(1534-1536)GTAfs p.V512fs IMPG2_uc011bhe.1_Frame_Shift_Ins_p.V375fs NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 512 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CACCATCTTCTACCAAGTGAGA 0.436 NaN NaN NaN NaN NaN NaN 73 155 --- --- MORC1 27136 broad.mit.edu 37 3 108682419 108682419 + Frame_Shift_Del DEL T T - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr3:108682419delT uc003dxl.2 - 27 2728 c.2641delA c.(2641-2643)ATAfs p.I881fs MORC1_uc011bhn.1_Frame_Shift_Del_p.I860fs NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTCCTCTTTATTTTTTTTTCA 0.284 NaN NaN NaN NaN NaN NaN 17 160 --- --- RAD50 10111 broad.mit.edu 37 5 131915089 131915102 + Frame_Shift_Del DEL CTGTGCTAAATAAT CTGTGCTAAATAAT - rs138060491 TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chr5:131915089_131915102delCTGTGCTAAATAAT uc003kxi.2 + 4 833_846 c.446_459delCTGTGCTAAATAAT c.(445-459)GCTGTGCTAAATAATfs p.A149fs RAD50_uc003kxg.1_Frame_Shift_Del_p.A50fs|RAD50_uc003kxh.2_Frame_Shift_Del_p.A10fs NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 149_153 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTTTCCAAGGCTGTGCTAAATAATGTCATTTTCT 0.374 NaN Homologous_recombination NaN NaN NaN NaN NaN 19 78 --- --- KDM6A 7403 broad.mit.edu 37 X 44894229 44894232 + Splice_Site DEL AAGT AAGT - TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 AAGT - AAGT AAGT Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2322f7cd-7d55-4a9f-b7f3-da3068089383 4744adfd-2966-4a5b-81eb-1b47e2a0d293 g.chrX:44894229_44894232delAAGT uc004dge.3 + 7 994 c.619_splice c.e7+1 p.I207_splice KDM6A_uc010nhk.2_Splice_Site_p.I207_splice|KDM6A_uc011mkz.1_Splice_Site_p.I207_splice|KDM6A_uc011mla.1_Splice_Site_p.I207_splice|KDM6A_uc011mlb.1_Splice_Site_p.I207_splice|KDM6A_uc011mlc.1_Splice_Site NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(2)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 CCAATGCTGAAAGTAAGTATTATT 0.333 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 66 56 --- ---