Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut DNAJC11 55735 broad.mit.edu 37 1 6698379 6698379 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:6698379C>T uc001aof.2 - 12 1405 c.1299G>A c.(1297-1299)CAG>CAA p.Q433Q DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.Q381Q|DNAJC11_uc010nzu.1_Silent_p.Q343Q NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 433 Potential. protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CTTGCTTCTTCTGCAGCACAT 0.632 NA 23 20 0 0 0 0 PIK3CD 5293 broad.mit.edu 37 1 9777022 9777022 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:9777022C>G uc001aqb.3 + 7 994 c.786C>G c.(784-786)ATC>ATG p.I262M PIK3CD_uc010oaf.1_Missense_Mutation_p.I262M|PIK3CD_uc001aqe.3_Intron NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 262 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CTCAGTACATCTGCAGCTGCC 0.662 NA 25 19 0 0 0 0 CASZ1 54897 broad.mit.edu 37 1 10707968 10707968 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:10707968C>T uc001aro.2 - 16 3707 c.3387G>A c.(3385-3387)ATG>ATA p.M1129I CASZ1_uc001arp.1_Missense_Mutation_p.M1129I NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1129 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGATCTGAGGCATCTGGGGTA 0.667 NA 32 15 0 0 0 0 ALPL 249 broad.mit.edu 37 1 21903031 21903031 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:21903031G>A uc001bet.2 + 11 1463 c.1206G>A c.(1204-1206)CTG>CTA p.L402L ALPL_uc010odn.1_Silent_p.L350L|ALPL_uc010odo.1_Silent_p.L347L|ALPL_uc010odp.1_Silent_p.L325L|ALPL_uc001beu.3_Silent_p.L402L NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 402 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CCCCCATGCTGAGTGACACAG 0.607 NA 49 65 0 0 0 0 LDLRAD2 401944 broad.mit.edu 37 1 22148095 22148095 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:22148095G>C uc001bfg.1 + 4 983 c.796G>C c.(796-798)GCT>CCT p.A266P LDLRAD2_uc001bfh.1_RNA NM_001013693 NP_001013715 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain 266 Cytoplasmic (Potential). integral to membrane receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) ACAAGACGCAGCTTTGGAAGG 0.602 NA 39 64 0 0 0 0 WASF2 10163 broad.mit.edu 37 1 27755376 27755376 + Missense_Mutation SNP C C T rs151177492 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:27755376C>T uc001bof.1 - 2 241 c.25G>A c.(25-27)GAG>AAG p.E9K WASF2_uc010ofl.1_Missense_Mutation_p.E9K NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 9 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TGCCTTGGCTCGATGTTCCTC 0.488 NA 30 26 0 0 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35921704 35921704 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:35921704G>A uc001byx.2 - 10 1824 c.1566C>T c.(1564-1566)CTC>CTT p.L522L KIAA0319L_uc001byw.2_5'Flank|KIAA0319L_uc010ohv.1_Silent_p.L164L NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 522 PKD 3.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTTCCCAAAGAGGGTGATGG 0.547 NA 116 172 0 0 0 0 EIF2C4 192670 broad.mit.edu 37 1 36298161 36298161 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:36298161G>C uc001bzj.1 + 11 1559 c.1369G>C c.(1369-1371)GAT>CAT p.D457H NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 457 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATGTAGGGAAGATTTACTAAA 0.393 NA 26 64 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39852945 39852945 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:39852945G>A uc010oiu.1 + 22 9882 c.9751G>A c.(9751-9753)GAT>AAT p.D3251N MACF1_uc010ois.1_Missense_Mutation_p.D2749N|MACF1_uc001cda.1_Missense_Mutation_p.D2636N|MACF1_uc001cdc.1_Missense_Mutation_p.D1815N NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4816 Spectrin 4. 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) CTGGTTGGATGATAAACAAAG 0.448 NA 106 161 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39907972 39907972 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:39907972G>A uc010oiu.1 + 41 14388 c.14257G>A c.(14257-14259)GAG>AAG p.E4753K MACF1_uc010ois.1_Missense_Mutation_p.E4251K NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GAACCTGGGTGAGAAAATTGC 0.448 NA 17 36 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43903370 43903370 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:43903370C>T uc001cjk.1 + 30 4160 c.3698C>T c.(3697-3699)TCG>TTG p.S1233L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2132 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAGGAAGCCTCGGCATGTATC 0.592 NA 21 27 0 0 0 0 KIAA0494 9813 broad.mit.edu 37 1 47182007 47182007 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:47182007G>C uc001cqk.3 - 2 1271 c.294C>G c.(292-294)CTC>CTG p.L98L KIAA0494_uc010omh.1_Silent_p.L98L|KIAA0494_uc001cql.1_Silent_p.L98L NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 98 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) GATCCTCCTTGAGAGCAACCT 0.378 NA 13 31 0 0 0 0 NRD1 4898 broad.mit.edu 37 1 52256649 52256649 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:52256649C>T uc001ctc.3 - 30 3500 c.3178G>A c.(3178-3180)GAT>AAT p.D1060N NRD1_uc009vzb.2_Missense_Mutation_p.D755N|NRD1_uc001ctd.3_Missense_Mutation_p.D992N|NRD1_uc001cte.2_Missense_Mutation_p.D928N NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 991 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 ATCTTCTTATCAACAACTTCA 0.398 NA 18 23 0 0 0 0 MAGOH 4116 broad.mit.edu 37 1 53692756 53692756 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:53692756G>A uc001cvf.1 - 5 490 c.402C>T c.(400-402)TTC>TTT p.F134F MAGOH_uc010ont.1_Silent_p.F97F NM_002370 NP_002361 P61326 MGN_HUMAN mago-nashi homolog 134 KCLVF->ECLVA: Complete loss of nonsense- mediated decay activity. mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding 0 CAATAAGACTGAAGACCAAAC 0.373 NA 6 14 0 0 0 0 C1orf87 127795 broad.mit.edu 37 1 60538268 60538268 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:60538268C>G uc001czs.1 - 2 140 c.48G>C c.(46-48)GAG>GAC p.E16D NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 16 calcium ion binding ovary(1)|breast(1) 2 TCACCATGATCTCAGGCATTG 0.393 NA 31 67 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66058502 66058502 + Silent SNP A A C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:66058502A>C uc001dci.2 + 6 859 c.657A>C c.(655-657)GGA>GGC p.G219G LEPR_uc001dcg.2_Silent_p.G219G|LEPR_uc001dch.2_Silent_p.G219G|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.G219G|LEPR_uc001dck.2_Silent_p.G219G NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 219 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CATCTGGTGGAGTAATTTTCC 0.378 NA 13 31 0 0 0 0 USP33 23032 broad.mit.edu 37 1 78204976 78204976 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:78204976G>C uc001dht.2 - 6 765 c.418C>G c.(418-420)CAC>GAC p.H140D USP33_uc001dhu.2_Missense_Mutation_p.H109D|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.H140D NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 140 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TGTATTTGGTGAGGTTGTCTT 0.373 NA 45 91 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86252129 86252129 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:86252129G>T uc001dlj.2 - 48 4009 c.3967C>A c.(3967-3969)CCA>ACA p.P1323T COL24A1_uc001dli.2_Missense_Mutation_p.P459T|COL24A1_uc010osd.1_Missense_Mutation_p.P623T|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 1323 Collagen-like 15. 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) GTTCTTCCTGGGCCGCCTCTG 0.463 NA 47 67 6.08e-21 6.73e-21 1 0 GBP2 2634 broad.mit.edu 37 1 89579735 89579735 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:89579735G>C uc001dmz.1 - 7 1384 c.1113C>G c.(1111-1113)TTC>TTG p.F371L GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 371 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CCACATCCTTGAAAGAGTTCT 0.488 NA 54 79 0 0 0 0 LRRC8C 84230 broad.mit.edu 37 1 90179681 90179681 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:90179681G>C uc001dnl.3 + 3 1794 c.1552G>C c.(1552-1554)GAG>CAG p.E518Q NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 518 LRR 6. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AAATCTGGAAGAGCTGTACCT 0.468 NA 22 37 0 0 0 0 CCDC18 343099 broad.mit.edu 37 1 93649049 93649049 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:93649049C>G uc001dpq.2 + 2 653 c.485C>G c.(484-486)TCC>TGC p.S162C TMED5_uc001dpn.2_5'Flank|TMED5_uc001dpo.2_5'Flank|TMED5_uc001dpp.2_5'Flank NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 44 ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GAAGAGTTATCCAGGTAAGTA 0.343 NA 23 28 0 0 0 0 S1PR1 1901 broad.mit.edu 37 1 101704696 101704696 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:101704696C>T uc001dud.2 + 2 670 c.156C>T c.(154-156)TTC>TTT p.F52F S1PR1_uc009weg.2_Silent_p.F52F NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 52 Helical; Name=1; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 CGGTGGTGTTCATTCTCATCT 0.438 NA OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 85 0 0 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294644 110294644 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:110294644C>T uc001dyr.1 - 15 1552 c.1407G>A c.(1405-1407)CTG>CTA p.L469L EPS8L3_uc001dys.1_Silent_p.L439L|EPS8L3_uc001dyq.1_Silent_p.L470L|EPS8L3_uc009wfm.1_Silent_p.L406L|EPS8L3_uc009wfn.1_Silent_p.L414L NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 469 SH3. cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GGACCACAGTCAGTTCCCGTG 0.592 NA 42 93 0 0 0 0 KCNA2 3737 broad.mit.edu 37 1 111146834 111146834 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:111146834C>T uc001dzu.2 - 2 1067 c.571G>A c.(571-573)GAG>AAG p.E191K KCNA2_uc009wfv.1_Missense_Mutation_p.E191K|KCNA2_uc009wfw.2_Missense_Mutation_p.E191K NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 191 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TCTTCATTCTCATCCCGGAAG 0.493 NA 31 54 0 0 0 0 DDX20 11218 broad.mit.edu 37 1 112309284 112309284 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:112309284G>A uc001ebs.2 + 11 2595 c.2238G>A c.(2236-2238)TTG>TTA p.L746L DDX20_uc010owf.1_Silent_p.L508L|DDX20_uc001ebt.2_Silent_p.L354L NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 746 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTTCAGATTGCAGACTGAAG 0.473 NA 21 46 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114226508 114226508 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:114226508G>C uc001edk.2 + 21 4499 c.4318G>C c.(4318-4320)GAG>CAG p.E1440Q MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1465 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAAAACAAAGAGACTGGAAG 0.433 NA 4 14 0 0 0 0 PEX11B 8799 broad.mit.edu 37 1 145522727 145522727 + Silent SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:145522727C>A uc001eny.1 + 4 606 c.588C>A c.(586-588)CTC>CTA p.L196L NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Silent_p.L182L|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank NM_003846 NP_003837 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 196 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGTCCTGCTCCTGGCTCGAG 0.577 NA 34 192 2.27e-22 2.51e-22 1 0 BCL9 607 broad.mit.edu 37 1 147090735 147090735 + Silent SNP A A C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:147090735A>C uc001epq.2 + 8 1514 c.774A>C c.(772-774)CCA>CCC p.P258P BCL9_uc010ozr.1_Silent_p.P184P NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 258 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) AGCCAACTCCACCCATTCCGG 0.592 NA T IGH@|IGL@ B-ALL 11 146 0 0 0 0 GJA8 2703 broad.mit.edu 37 1 147381142 147381142 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:147381142G>A uc001epu.1 + 2 1123 c.1060G>A c.(1060-1062)GAG>AAG p.E354K NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 354 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GGAGGAAGCAGAGAGGCTGAC 0.632 NA 5 20 0 0 0 0 FCGR1A 2209 broad.mit.edu 37 1 149762936 149762936 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:149762936G>C uc001esp.3 + 6 1038 c.988G>C c.(988-990)GAT>CAT p.D330H HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 330 Cytoplasmic (Potential).|Interaction with EPB41L2. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AATCTCTTTGGATTCTGGTCA 0.383 NA 28 142 0 0 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858839 149858839 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:149858839G>T uc001etd.2 + 1 315 c.315G>T c.(313-315)CAG>CAT p.Q105H HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 105 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCATCGCCCAGGGCGGCGTTT 0.522 NA 41 163 1.69e-10 1.81e-10 1 0 SV2A 9900 broad.mit.edu 37 1 149878401 149878401 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:149878401G>C uc001etg.2 - 11 2177 c.1686C>G c.(1684-1686)TTC>TTG p.F562L SV2A_uc009wlk.2_Missense_Mutation_p.F14L|SV2A_uc001eth.2_Missense_Mutation_p.F562L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 562 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) ACTTGTACTCGAACAGGTCTG 0.537 NA 16 46 0 0 0 0 SNX27 81609 broad.mit.edu 37 1 151630748 151630748 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:151630748C>G uc001eyn.1 + 3 597 c.581C>G c.(580-582)TCT>TGT p.S194C SNX27_uc001eyo.2_Missense_Mutation_p.S101C|SNX27_uc001eyp.2_Missense_Mutation_p.S8C NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 194 PX. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CAGCTGTGTTCTAAGCGGTAC 0.408 NA 61 252 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282183 152282183 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:152282183C>T uc001ezu.1 - 3 5215 c.5179G>A c.(5179-5181)GAA>AAA p.E1727K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1727 Ser-rich. 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) TCTGACTCTTCTGAGTGTCCC 0.597 NA Ichthyosis 151 465 0 0 0 0 LCE2C 353140 broad.mit.edu 37 1 152648745 152648745 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:152648745G>T uc001fah.2 + 2 309 c.254G>T c.(253-255)CGG>CTG p.R85L NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 85 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACCGGCGCCGGCACCAGAGC 0.677 NA 5 112 0.00116845 0.00120075 1 0 CRTC2 200186 broad.mit.edu 37 1 153925047 153925047 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:153925047C>G uc010ped.1 - 8 772 c.702G>C c.(700-702)AAG>AAC p.K234N CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 234 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTCCTCCTACCTTCTTAGCAT 0.522 NA 9 521 0 0 0 0 SSR2 6746 broad.mit.edu 37 1 155984754 155984754 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:155984754C>A uc001fmx.2 - 4 441 c.361G>T c.(361-363)GTG>TTG p.V121L SSR2_uc001fmv.2_5'Flank|SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Intron|SSR2_uc010pgw.1_Missense_Mutation_p.V140L NM_003145 NP_003136 P43308 SSRB_HUMAN signal sequence receptor, beta precursor 121 Lumenal (Potential). cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CAACTCACCACAACGGGCCCA 0.423 NA 8 39 1.07e-07 1.13e-07 1 0 COPA 1314 broad.mit.edu 37 1 160309718 160309718 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:160309718C>G uc009wti.2 - 3 603 c.209G>C c.(208-210)GGA>GCA p.G70A COPA_uc001fvv.3_Missense_Mutation_p.G70A|COPA_uc009wtj.1_Intron NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 70 WD 2. COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATAGTCATCTCCTCCAGAGAC 0.458 NA 63 219 0 0 0 0 NDUFS2 4720 broad.mit.edu 37 1 161172237 161172237 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:161172237G>C uc001fyv.2 + 2 510 c.62G>C c.(61-63)GGG>GCG p.G21A NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.G21A|NDUFS2_uc010pkj.1_5'UTR|NDUFS2_uc001fyx.2_Missense_Mutation_p.G21A|NDUFS2_uc001fyy.1_5'Flank NM_004550 NP_004541 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2 21 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding skin(1) 1 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) CTGCGGCCTGGGGCTGGAGTC 0.652 NA 3 31 0 0 0 0 DDR2 4921 broad.mit.edu 37 1 162745470 162745470 + Missense_Mutation SNP A A G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:162745470A>G uc001gcf.2 + 16 2350 c.1885A>G c.(1885-1887)ATG>GTG p.M629V DDR2_uc001gcg.2_Missense_Mutation_p.M629V NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 629 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GATAAAGATCATGTCTCGGCT 0.413 NA 12 173 0 0 0 0 DCAF6 55827 broad.mit.edu 37 1 168014240 168014240 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:168014240C>T uc001gew.2 + 14 2044 c.1802C>T c.(1801-1803)TCA>TTA p.S601L DCAF6_uc001gev.2_Missense_Mutation_p.S621L|DCAF6_uc001gex.2_Missense_Mutation_p.S678L|DCAF6_uc010plk.1_Missense_Mutation_p.S647L|DCAF6_uc001gey.2_Missense_Mutation_p.S474L|DCAF6_uc001gez.2_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 601 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GAATCTGCTTCATCTGAAAAA 0.433 NA 43 161 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171530231 171530231 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:171530231C>G uc010pmg.1 + 20 6366 c.6100C>G c.(6100-6102)CCT>GCT p.P2034A BAT2L2_uc010pmh.1_Missense_Mutation_p.P1011A|BAT2L2_uc010pmi.1_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2034 protein C-terminus binding 0 TGGATCAGCTCCTTCATCAGA 0.363 NA 95 269 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171560972 171560972 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:171560972G>T uc010pmg.1 + 34 8706 c.8440G>T c.(8440-8442)GAA>TAA p.E2814* BAT2L2_uc010pmh.1_Nonsense_Mutation_p.E1726*|BAT2L2_uc010pmi.1_Nonsense_Mutation_p.E730*|BAT2L2_uc010pmj.1_Nonsense_Mutation_p.E346* NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein C-terminus binding 0 CAAAACCGAAGAAACAAAATC 0.478 NA 38 155 6.53e-18 7.18e-18 1 0 SLC9A11 284525 broad.mit.edu 37 1 173545823 173545823 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:173545823C>T uc001giz.2 - 8 1302 c.879G>A c.(877-879)CCG>CCA p.P293P SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 293 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity p.P293P(1) ovary(2) 2 GTTCGATCTTCGGTTTAAAAG 0.403 NA 12 34 0 0 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174363181 174363181 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:174363181G>C uc001gjx.2 + 13 1803 c.1608G>C c.(1606-1608)AAG>AAC p.K536N RABGAP1L_uc009wwq.1_Missense_Mutation_p.K548N|RABGAP1L_uc001gjw.2_Missense_Mutation_p.K499N|RABGAP1L_uc001gjy.2_Missense_Mutation_p.K204N|RABGAP1L_uc001gjz.2_Missense_Mutation_p.K183N NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 536 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 CTCTGGTGAAGAGTGGTGTCC 0.473 NA 45 123 0 0 0 0 TNR 7143 broad.mit.edu 37 1 175360470 175360470 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:175360470C>G uc001gkp.1 - 5 1542 c.1461G>C c.(1459-1461)CTG>CTC p.L487L TNR_uc009wwu.1_Silent_p.L487L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 487 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCTGTTCTTTCAGAGCCACCA 0.557 NA 31 67 0 0 0 0 ASTN1 460 broad.mit.edu 37 1 176983947 176983947 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:176983947G>A uc001glc.2 - 8 1715 c.1503C>T c.(1501-1503)AAC>AAT p.N501N ASTN1_uc001glb.1_Silent_p.N501N|ASTN1_uc001gld.1_Silent_p.N501N|ASTN1_uc009wwx.1_Silent_p.N501N|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 509 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCCCCATTCGTTCCGAATGC 0.493 NA 179 419 0 0 0 0 RASAL2 9462 broad.mit.edu 37 1 178389654 178389654 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:178389654C>G uc001glr.2 + 3 254 c.129C>G c.(127-129)TTC>TTG p.F43L RASAL2_uc009wxb.2_Missense_Mutation_p.F191L|RASAL2_uc001glq.2_Missense_Mutation_p.F191L NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 43 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 AGGGATTCTTCAGCAAGCGCC 0.468 NA 12 51 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 179972362 179972362 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:179972362G>C uc001gnt.2 + 7 1455 c.1072G>C c.(1072-1074)GAG>CAG p.E358Q CEP350_uc009wxl.2_Missense_Mutation_p.E357Q|CEP350_uc001gnu.2_Missense_Mutation_p.E192Q NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 358 centrosome|nucleus|spindle ovary(4) 4 AGTGTGGCAGGAGGCTGAGTT 0.378 NA 14 45 0 0 0 0 LHX4 89884 broad.mit.edu 37 1 180199673 180199673 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:180199673G>A uc001goe.1 + 1 232 c.9G>A c.(7-9)CAG>CAA p.Q3Q NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 3 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AGATGATGCAGAGTGCGACTG 0.522 NA 13 46 0 0 0 0 XPR1 9213 broad.mit.edu 37 1 180843068 180843068 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:180843068G>C uc001goi.2 + 13 1990 c.1798G>C c.(1798-1800)GAG>CAG p.E600Q XPR1_uc009wxn.2_Missense_Mutation_p.E535Q NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 600 EXS.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 TGCCCCACTTGAGGTTTTCCG 0.363 NA 22 40 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181689972 181689972 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:181689972C>G uc001gow.2 + 15 2102 c.1937C>G c.(1936-1938)GCC>GGC p.A646G CACNA1E_uc009wxs.2_Missense_Mutation_p.A553G NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 646 Extracellular (Potential).|II. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TTCCCTGCAGCCATCATGACT 0.433 NA 6 32 0 0 0 0 RNASEL 6041 broad.mit.edu 37 1 182555377 182555377 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:182555377C>G uc001gpj.1 - 1 732 c.565G>C c.(565-567)GAT>CAT p.D189H RNASEL_uc009wxz.1_Missense_Mutation_p.D189H|RNASEL_uc001gpk.2_Missense_Mutation_p.D189H|RNASEL_uc009wya.1_Missense_Mutation_p.D189H NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 189 ANK 5. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 CCCATCTCATCAAGGAGAATC 0.502 NA Hereditary_Prostate_Cancer 32 93 0 0 0 0 LAMC2 3918 broad.mit.edu 37 1 183196670 183196670 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:183196670G>A uc001gqa.2 + 10 1620 c.1306G>A c.(1306-1308)GAG>AAG p.E436K LAMC2_uc001gpz.3_Missense_Mutation_p.E436K|LAMC2_uc010poa.1_Missense_Mutation_p.E136K NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 436 Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TTCAGGGGATGAGAATCCTGA 0.522 NA 55 262 0 0 0 0 GLT25D2 23127 broad.mit.edu 37 1 183938448 183938448 + Missense_Mutation SNP T T C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:183938448T>C uc001gqr.2 - 5 1159 c.787A>G c.(787-789)ACC>GCC p.T263A GLT25D2_uc010poj.1_Missense_Mutation_p.T263A|GLT25D2_uc001gqs.2_Missense_Mutation_p.T143A NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 263 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 TCATCAAAGGTCCAGGTGTAG 0.527 NA 27 94 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197070880 197070880 + Nonsense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:197070880G>A uc001gtu.2 - 18 7758 c.7501C>T c.(7501-7503)CAG>TAG p.Q2501* ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Nonsense_Mutation_p.Q349* NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2501 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTCCAAGTCTGAAATGTAATA 0.348 NA 44 123 0 0 0 0 NR5A2 2494 broad.mit.edu 37 1 200143123 200143123 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:200143123G>C uc001gvb.2 + 8 1617 c.1411G>C c.(1411-1413)GAA>CAA p.E471Q NR5A2_uc001gvc.2_Missense_Mutation_p.E425Q|NR5A2_uc009wzh.2_Missense_Mutation_p.E431Q|NR5A2_uc010pph.1_Missense_Mutation_p.E399Q NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 471 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) CCAGCTGGTAGAAGGTGTCCA 0.393 NA 3 15 0 0 0 0 LGR6 59352 broad.mit.edu 37 1 202288024 202288024 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:202288024G>A uc001gxu.2 + 18 2593 c.2593G>A c.(2593-2595)GAT>AAT p.D865N LGR6_uc001gxv.2_Missense_Mutation_p.D813N|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D726N NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 865 Cytoplasmic (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 GAGCTCCTGTGATTCTACCCA 0.652 NA 33 97 0 0 0 0 MYOG 4656 broad.mit.edu 37 1 203054939 203054939 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:203054939C>T uc001gzd.2 - 1 439 c.151G>A c.(151-153)GAG>AAG p.E51K NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 51 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 CCCTTGTCCTCAAGGGGCCCT 0.672 NA 40 77 0 0 0 0 FMOD 2331 broad.mit.edu 37 1 203316468 203316468 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:203316468C>G uc001gzr.2 - 2 1067 c.931G>C c.(931-933)GTC>CTC p.V311L FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 311 LRR 9. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) TTGGTGTTGACTGGGGGGATC 0.527 NA 41 133 0 0 0 0 FMOD 2331 broad.mit.edu 37 1 203316478 203316478 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:203316478C>G uc001gzr.2 - 2 1057 c.921G>C c.(919-921)AAG>AAC p.K307N FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 307 LRR 9. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) CTGGGGGGATCTTCTGCAGCT 0.542 NA 43 132 0 0 0 0 CNTN2 6900 broad.mit.edu 37 1 205027723 205027723 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:205027723G>A uc001hbr.2 + 5 688 c.419G>A c.(418-420)CGA>CAA p.R140Q CNTN2_uc001hbq.1_Missense_Mutation_p.R31Q|CNTN2_uc009xbi.2_Missense_Mutation_p.R31Q|CNTN2_uc001hbs.2_5'Flank NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 140 Ig-like C2-type 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGGAGGAGCGAGACCCAGTG 0.622 NA 28 18 0 0 0 0 CDK18 5129 broad.mit.edu 37 1 205495256 205495256 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:205495256G>C uc001hcr.2 + 6 829 c.610G>C c.(610-612)GAG>CAG p.E204Q CDK18_uc010pri.1_Missense_Mutation_p.R194T|CDK18_uc001hcp.2_Missense_Mutation_p.E174Q|CDK18_uc001hcq.2_Missense_Mutation_p.E174Q|CDK18_uc010prj.1_Missense_Mutation_p.E85Q|CDK18_uc001hcs.2_Missense_Mutation_p.E85Q|CDK18_uc009xbm.1_Missense_Mutation_p.E85Q NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 172 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 GGCCCTGAAAGAGATCCGGCT 0.647 NA 10 28 0 0 0 0 IL10 3586 broad.mit.edu 37 1 206942023 206942023 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:206942023G>A uc001hen.1 - 5 554 c.495C>T c.(493-495)ATC>ATT p.I165I NM_000572 NP_000563 P22301 IL10_HUMAN interleukin 10 precursor 165 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) CTATGTAGTTGATGAAGATGT 0.408 NA 33 31 0 0 0 0 CD46 4179 broad.mit.edu 37 1 207925591 207925591 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:207925591C>T uc001hgc.2 + 1 190 c.34C>T c.(34-36)CCT>TCT p.P12S CD46_uc001hgd.2_Missense_Mutation_p.P12S|CD46_uc001hge.2_Missense_Mutation_p.P12S|CD46_uc001hgf.2_Missense_Mutation_p.P12S|CD46_uc001hgg.2_Missense_Mutation_p.P12S|CD46_uc001hgh.2_Missense_Mutation_p.P12S|CD46_uc001hgi.2_Missense_Mutation_p.P12S|CD46_uc001hgj.2_Missense_Mutation_p.P12S|CD46_uc001hgk.2_Missense_Mutation_p.P12S|CD46_uc001hgl.2_Missense_Mutation_p.P12S|CD46_uc001hgm.2_Missense_Mutation_p.P12S|CD46_uc001hgn.2_Missense_Mutation_p.P12S|CD46_uc001hgo.2_Missense_Mutation_p.P12S|CD46_uc001hgp.2_Missense_Mutation_p.P12S NM_002389 NP_002380 P15529 MCP_HUMAN CD46 antigen, complement regulatory protein 12 complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity large_intestine(2)|lung(1)|central_nervous_system(1) 4 GTGTCCCTTTCCTTCCTGGCG 0.667 NA 106 311 0 0 0 0 INTS7 25896 broad.mit.edu 37 1 212161241 212161241 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:212161241G>T uc001hiw.1 - 8 1089 c.984C>A c.(982-984)TTC>TTA p.F328L INTS7_uc009xdb.1_Missense_Mutation_p.F328L|INTS7_uc001hix.1_Missense_Mutation_p.F204L|INTS7_uc001hiy.1_Missense_Mutation_p.F328L|INTS7_uc010pta.1_Missense_Mutation_p.F279L NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 328 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GAACTATACTGAAGTAATGTT 0.388 NA 18 62 2.35e-11 2.54e-11 1 0 NSL1 25936 broad.mit.edu 37 1 212964964 212964964 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:212964964C>T uc001hjn.2 - 1 176 c.142G>A c.(142-144)GAA>AAA p.E48K NSL1_uc001hjm.2_Missense_Mutation_p.E48K|NSL1_uc010pti.1_Missense_Mutation_p.E48K|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank NM_015471 NP_056286 Q96IY1 NSL1_HUMAN NSL1, MIND kinetochore complex component isoform 48 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) TGTAGCATTTCGGTCACAGCC 0.652 NA 41 140 0 0 0 0 MARK1 4139 broad.mit.edu 37 1 220809219 220809219 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:220809219C>G uc001hmn.3 + 13 1918 c.1321C>G c.(1321-1323)CAG>GAG p.Q441E MARK1_uc009xdw.2_Missense_Mutation_p.Q441E|MARK1_uc010pun.1_Missense_Mutation_p.Q441E|MARK1_uc001hmm.3_Missense_Mutation_p.Q419E NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 441 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) CAAAAGACCTCAGGCTAACAG 0.408 NA 30 76 0 0 0 0 MIA3 375056 broad.mit.edu 37 1 222802603 222802603 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:222802603G>A uc001hnl.2 + 4 2050 c.2041G>A c.(2041-2043)GAA>AAA p.E681K MIA3_uc009xea.1_Missense_Mutation_p.E517K NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 681 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CTCTGAGGGAGAAGCCAAAGA 0.498 NA 33 112 0 0 0 0 SUSD4 55061 broad.mit.edu 37 1 223438081 223438081 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:223438081C>T uc001hnx.2 - 4 1249 c.615G>A c.(613-615)GTG>GTA p.V205V SUSD4_uc001hny.3_Silent_p.V205V|SUSD4_uc010puw.1_Silent_p.V45V|SUSD4_uc001hnz.2_Silent_p.V205V|SUSD4_uc010pux.1_Silent_p.V134V NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 205 Sushi 3.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) GATAGGAGATCACAGTCCCCA 0.512 NA 46 117 0 0 0 0 TARBP1 6894 broad.mit.edu 37 1 234546228 234546228 + Nonsense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:234546228G>C uc001hwd.2 - 23 3755 c.3755C>G c.(3754-3756)TCA>TGA p.S1252* NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1252 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GTCTAAATGTGATAAAACTGC 0.259 NA 10 92 0 0 0 0 ERO1LB 56605 broad.mit.edu 37 1 236399689 236399689 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:236399689G>T uc001hxt.2 - 7 771 c.515C>A c.(514-516)TCT>TAT p.S172Y ERO1LB_uc010pxt.1_3'UTR NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 172 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) AGCAGCTGGAGATCTCTCATC 0.403 NA 61 144 7.92e-34 8.84e-34 1 0 OR2W5 441932 broad.mit.edu 37 1 247655066 247655066 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:247655066C>T uc001icz.1 + 1 637 c.637C>T c.(637-639)CCT>TCT p.P213S NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-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) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGCCGCTCTCCCTCATCCTCA 0.562 NA 10 150 0 0 0 0 OR2G2 81470 broad.mit.edu 37 1 247751981 247751981 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:247751981C>T uc010pyy.1 + 1 320 c.320C>T c.(319-321)TCC>TTC p.S107F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 107 Helical; Name=3; (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) CTTTACAACTCCCATGCCCTG 0.537 NA 58 161 0 0 0 0 ZMYND11 10771 broad.mit.edu 37 10 294371 294371 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:294371G>A uc010pzt.1 + 13 1751 c.1323G>A c.(1321-1323)AAG>AAA p.K441K ZMYND11_uc001ifk.2_Silent_p.K440K|ZMYND11_uc010pzu.1_Silent_p.K441K|ZMYND11_uc010pzv.1_Silent_p.K386K|ZMYND11_uc010pzw.1_Silent_p.K356K|ZMYND11_uc001ifm.2_Silent_p.K387K|ZMYND11_uc010pzx.1_Silent_p.K441K|ZMYND11_uc001ifn.2_Silent_p.K387K|ZMYND11_uc009xhg.2_Silent_p.K424K|ZMYND11_uc009xhh.2_Silent_p.K315K|ZMYND11_uc010pzy.1_Silent_p.K293K NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 401 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTCAGACAAAGAAGTTAAGTG 0.488 NA 48 66 0 0 0 0 GDI2 2665 broad.mit.edu 37 10 5807996 5807996 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:5807996C>G uc001iil.3 - 11 1602 c.1311G>C c.(1309-1311)AAG>AAC p.K437N GDI2_uc001iim.3_Missense_Mutation_p.K392N|GDI2_uc009xid.2_Missense_Mutation_p.K441N NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 437 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 TGTCATTCTTCTTGCGCTTCA 0.338 NA 56 103 0 0 0 0 PFKFB3 5209 broad.mit.edu 37 10 6263358 6263358 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:6263358G>C uc001ije.2 + 9 1230 c.846G>C c.(844-846)CTG>CTC p.L282L PFKFB3_uc001ijd.2_Silent_p.L262L|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.L296L|PFKFB3_uc001ijf.2_Silent_p.L282L|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 282 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 CCAGTGCTCTGAGCAAGTTCG 0.647 NA 14 14 0 0 0 0 DHTKD1 55526 broad.mit.edu 37 10 12155015 12155015 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:12155015C>T uc001ild.3 + 13 2370 c.2271C>T c.(2269-2271)TTC>TTT p.F757F NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 757 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TCCGGAACTTCAGAAAACCAC 0.478 NA 39 84 0 0 0 0 ABI1 10006 broad.mit.edu 37 10 27048155 27048155 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:27048155G>A uc001isx.2 - 9 1081 c.914C>T c.(913-915)TCA>TTA p.S305L ABI1_uc001ite.2_Missense_Mutation_p.S272L|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S278L|ABI1_uc001ita.2_Missense_Mutation_p.S278L|ABI1_uc001isz.2_Missense_Mutation_p.S273L|ABI1_uc001itb.2_Missense_Mutation_p.S322L|ABI1_uc001itc.2_Missense_Mutation_p.S277L|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S277L|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S144L NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 305 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 ACCAGGAGCTGAGCCCGGGGC 0.498 NA 28 56 0 0 0 0 ANKRD26 22852 broad.mit.edu 37 10 27326148 27326148 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:27326148C>G uc001ith.2 - 23 2833 c.2661G>C c.(2659-2661)GAG>GAC p.E887D ANKRD26_uc001itg.2_Missense_Mutation_p.E574D|ANKRD26_uc009xku.1_Missense_Mutation_p.E888D NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 887 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CCATTTCAATCTCCTTTTGTT 0.328 NA 34 84 0 0 0 0 RET 5979 broad.mit.edu 37 10 43619153 43619153 + Missense_Mutation SNP A A G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:43619153A>G uc001jal.2 + 17 3026 c.2836A>G c.(2836-2838)ACC>GCC p.T946A RET_uc001jak.1_Missense_Mutation_p.T946A|RET_uc010qez.1_Missense_Mutation_p.T692A NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 946 Protein kinase.|Cytoplasmic (Potential). T -> M (in MEN2B and MTC; familial form). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GGAGATCGTGACCCTAGGGGG 0.612 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 73 104 0 0 0 0 STOX1 219736 broad.mit.edu 37 10 70645407 70645407 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:70645407G>A uc001jos.2 + 3 1942 c.1855G>A c.(1855-1857)GAA>AAA p.E619K STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.E509K NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 619 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 GGTAATTCCTGAAGTCTTGAG 0.443 NA 27 80 0 0 0 0 COL13A1 1305 broad.mit.edu 37 10 71690269 71690269 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:71690269G>C uc001jpr.1 + 28 2147 c.1611G>C c.(1609-1611)GAG>GAC p.E537D COL13A1_uc001jqj.1_Missense_Mutation_p.E537D|COL13A1_uc001jps.1_Missense_Mutation_p.E508D|COL13A1_uc001jpt.1_Missense_Mutation_p.E496D|COL13A1_uc001jpu.1_Missense_Mutation_p.E518D|COL13A1_uc001jpv.1_Missense_Mutation_p.E537D|COL13A1_uc001jpx.1_Missense_Mutation_p.E515D|COL13A1_uc001jpw.1_Missense_Mutation_p.E484D|COL13A1_uc001jpy.1_Missense_Mutation_p.E475D|COL13A1_uc001jpz.1_Missense_Mutation_p.E480D|COL13A1_uc001jqa.1_Missense_Mutation_p.E477D|COL13A1_uc001jqc.1_Missense_Mutation_p.E537D|COL13A1_uc001jqb.1_Missense_Mutation_p.E486D|COL13A1_uc001jql.2_Missense_Mutation_p.E537D|COL13A1_uc001jqd.1_Missense_Mutation_p.E525D|COL13A1_uc001jqe.1_Missense_Mutation_p.E520D|COL13A1_uc001jqf.1_Missense_Mutation_p.E518D|COL13A1_uc001jqg.1_Missense_Mutation_p.E515D|COL13A1_uc001jqh.1_Missense_Mutation_p.E537D|COL13A1_uc001jqi.1_Missense_Mutation_p.E537D|COL13A1_uc010qjf.1_Missense_Mutation_p.E327D NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 537 Extracellular (Potential).|Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) GCCCAGGAGAGAAGGGGGAAA 0.627 NA 13 23 0 0 0 0 PPP3CB 5532 broad.mit.edu 37 10 75230956 75230956 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:75230956G>A uc001jue.2 - 6 816 c.681C>T c.(679-681)TTC>TTT p.F227F PPP3CB_uc001juf.2_Silent_p.F227F|PPP3CB_uc001jug.2_Silent_p.F227F|PPP3CB_uc001jui.2_Silent_p.F245F|PPP3CB_uc001juh.2_Silent_p.F141F NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 227 Catalytic. skin(1) 1 Prostate(51;0.0119) GTGGCTCTTTGAATCTATCTA 0.343 NA 22 53 0 0 0 0 SEC24C 9632 broad.mit.edu 37 10 75525644 75525644 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:75525644G>T uc001juw.2 + 11 1632 c.1453G>T c.(1453-1455)GAA>TAA p.E485* SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Nonsense_Mutation_p.E343*|SEC24C_uc001jux.2_Nonsense_Mutation_p.E485*|SEC24C_uc010qko.1_Nonsense_Mutation_p.E366*|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 485 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) GGGCTCTTATGAATTCTTGGC 0.507 NA 73 129 3.55e-40 3.96e-40 1 0 AP3M1 26985 broad.mit.edu 37 10 75897965 75897965 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:75897965C>T uc001jwf.2 - 2 603 c.173G>A c.(172-174)AGT>AAT p.S58N AP3M1_uc001jwg.2_Missense_Mutation_p.S58N|AP3M1_uc001jwh.2_Missense_Mutation_p.S58N|AP3M1_uc010qla.1_Missense_Mutation_p.S58N NM_207012 NP_996895 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 58 protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding 0 Prostate(51;0.0112) CCGGTAGATACTGATGAGGTA 0.428 NA 30 48 0 0 0 0 CPEB3 22849 broad.mit.edu 37 10 93902855 93902855 + Missense_Mutation SNP G G A rs141047227 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:93902855G>A uc001khw.1 - 6 1557 c.1384C>T c.(1384-1386)CGC>TGC p.R462C CPEB3_uc001khu.1_Missense_Mutation_p.R471C|CPEB3_uc001khv.1_Missense_Mutation_p.R448C|CPEB3_uc010qnn.1_Missense_Mutation_p.R448C NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding 462 RRM 1. nucleotide binding|RNA binding 0 Colorectal(252;0.0869) CCAAACCTGCGAAAGCTGGCA 0.388 NA 27 46 0 0 0 0 RRP12 23223 broad.mit.edu 37 10 99120333 99120333 + Missense_Mutation SNP C C T rs116818150 by1000genomes TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:99120333C>T uc001knf.2 - 31 3749 c.3610G>A c.(3610-3612)GAG>AAG p.E1204K RRP12_uc001kne.2_Missense_Mutation_p.E219K|RRP12_uc009xvl.2_Missense_Mutation_p.E321K|RRP12_uc009xvm.2_Missense_Mutation_p.E922K|RRP12_uc010qou.1_Missense_Mutation_p.E1143K|RRP12_uc009xvn.2_Missense_Mutation_p.E1104K NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1204 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCAGCTCCTCCTCCTCAGCC 0.557 NA 35 55 0 0 0 0 TAF5 6877 broad.mit.edu 37 10 105139422 105139422 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:105139422G>T uc001kwv.2 + 4 1194 c.1171G>T c.(1171-1173)GAA>TAA p.E391* TAF5_uc010qqq.1_Nonsense_Mutation_p.E391* NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 391 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) TGACGAGGATGAAGAGGGAGA 0.323 NA 11 23 3.27e-08 3.48e-08 1 0 INPP5F 22876 broad.mit.edu 37 10 121541174 121541174 + Missense_Mutation SNP G G C rs150684982 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:121541174G>C uc001leo.2 + 3 372 c.206G>C c.(205-207)CGG>CCG p.R69P INPP5F_uc001len.3_Missense_Mutation_p.R69P NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 69 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ATTCTAATTCGGCAGAAAGCA 0.423 NA 15 41 0 0 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930719 133930719 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr10:133930719G>A uc001lkx.3 + 2 274 c.274G>A c.(274-276)GAG>AAG p.E92K NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGCTGTGCGTGAGACGCTGCT 0.597 NA 14 36 0 0 0 0 TALDO1 6888 broad.mit.edu 37 11 747535 747535 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:747535C>G uc001lqz.2 + 1 104 c.54C>G c.(52-54)CTC>CTG p.L18L TALDO1_uc010qwl.1_Silent_p.L18L|TALDO1_uc001lra.2_Silent_p.L18L NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 18 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) TGGACCAGCTCAAGCAGTTCA 0.602 NA 5 9 0 0 0 0 ZNF214 7761 broad.mit.edu 37 11 7022289 7022289 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:7022289G>C uc001mfa.2 - 3 928 c.625C>G c.(625-627)CTA>GTA p.L209V ZNF214_uc010ray.1_Missense_Mutation_p.L209V|ZNF214_uc009yfh.1_Missense_Mutation_p.L209V NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTCTCAGTAGGTCTTCTTGA 0.398 NA 40 19 0 0 0 0 USP47 55031 broad.mit.edu 37 11 11924275 11924275 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:11924275G>A uc001mjq.1 + 7 1430 c.667G>A c.(667-669)GAA>AAA p.E223K USP47_uc001mjr.2_Missense_Mutation_p.E135K|USP47_uc001mjs.2_Missense_Mutation_p.E203K NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 223 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) GGAATTTGAAGAATCTGAAGA 0.244 NA 22 11 0 0 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956206 18956206 + Silent SNP C C T rs147529961 byFrequency TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:18956206C>T uc001mpg.2 - 1 344 c.126G>A c.(124-126)CTG>CTA p.L42L NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 42 Helical; Name=1; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 CGTTTCCTGTCAGCCCGACAA 0.562 NA 54 108 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 21581825 21581825 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:21581825C>T uc001mqe.2 + 17 2030 c.1877C>T c.(1876-1878)TCT>TTT p.S626F NELL1_uc001mqf.2_Missense_Mutation_p.S579F|NELL1_uc009yid.2_Missense_Mutation_p.S654F|NELL1_uc010rdo.1_Missense_Mutation_p.S569F|NELL1_uc010rdp.1_Missense_Mutation_p.S339F|NELL1_uc001mqh.2_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 626 EGF-like 6; calcium-binding (Potential). S -> C (in Ref. 7; AAB06946). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CTCTGCCCCTCTGGGCCCTCC 0.537 NA 29 24 0 0 0 0 QSER1 79832 broad.mit.edu 37 11 32953947 32953947 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:32953947G>C uc001mty.2 + 4 1023 c.756G>C c.(754-756)AAG>AAC p.K252N QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 252 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TACAACAGAAGACCTCCCAGG 0.438 NA 30 46 0 0 0 0 HIPK3 10114 broad.mit.edu 37 11 33308711 33308711 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:33308711G>A uc001mul.1 + 2 1021 c.751G>A c.(751-753)GAA>AAA p.E251K HIPK3_uc001mum.1_Missense_Mutation_p.E251K|HIPK3_uc009yjv.1_Missense_Mutation_p.E251K NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 251 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 GCTCAGTACTGAAAATGCTGA 0.363 NA 24 30 0 0 0 0 OR5D14 219436 broad.mit.edu 37 11 55563457 55563457 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:55563457C>T uc010rim.1 + 1 426 c.426C>T c.(424-426)CTC>CTT p.L142L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CACAGAGGCTCTGTGCCCTGC 0.517 NA 32 50 0 0 0 0 OR8I2 120586 broad.mit.edu 37 11 55860932 55860932 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:55860932G>A uc010rix.1 + 1 149 c.149G>A c.(148-150)AGA>AAA p.R50K NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) ACGTTAATCAGAATGGATTCT 0.373 NA 95 155 0 0 0 0 LRRC55 219527 broad.mit.edu 37 11 56950027 56950027 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:56950027C>T uc001njl.1 + 1 807 c.660C>T c.(658-660)CTC>CTT p.L220L NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 190 LRR 5. integral to membrane 0 TGGCCTTCCTCAGCCTGGAGG 0.652 NA 34 49 0 0 0 0 C11orf31 280636 broad.mit.edu 37 11 57509396 57509396 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:57509396G>C uc010rjx.1 + 3 584 c.238G>C c.(238-240)GAG>CAG p.E80Q CTNND1_uc001nlf.1_Intron NM_170746 NP_734467 Q8IZQ5 SELH_HUMAN selenoprotein H 80 cell redox homeostasis selenium binding 0 GGGCAGCTTCGAGGTGACGCT 0.677 NA 5 6 0 0 0 0 OR5B17 219965 broad.mit.edu 37 11 58126450 58126450 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:58126450G>A uc010rke.1 - 1 93 c.93C>T c.(91-93)CTC>CTT p.L31L NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGAGGTAGATGAGGGTAAACA 0.443 NA 60 89 0 0 0 0 FAM111A 63901 broad.mit.edu 37 11 58920182 58920182 + Silent SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:58920182G>T uc010rkp.1 + 5 1268 c.1041G>T c.(1039-1041)GTG>GTT p.V347V FAM111A_uc010rkq.1_Silent_p.V347V|FAM111A_uc010rkr.1_Silent_p.V347V|FAM111A_uc001nno.2_Silent_p.V347V|FAM111A_uc001nnp.2_Silent_p.V347V|FAM111A_uc001nnq.2_Silent_p.V347V NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 347 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) TTAAAGTAGTGAAACTTCTTG 0.348 NA 34 53 4.34e-12 4.7e-12 1 0 SDHAF2 54949 broad.mit.edu 37 11 61205277 61205277 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:61205277G>A uc001nrt.2 + 2 239 c.217G>A c.(217-219)GAG>AAG p.E73K NM_017841 NP_060311 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 73 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding ovary(2) 2 CCTGCTCTATGAGAGCAGAAA 0.373 NA Familial_Paragangliomas 38 77 0 0 0 0 C11orf9 745 broad.mit.edu 37 11 61543821 61543821 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:61543821G>A uc001nsc.1 + 10 1512 c.1416G>A c.(1414-1416)ACG>ACA p.T472T C11orf9_uc001nse.1_Silent_p.T463T|C11orf9_uc010rll.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 472 NDT80. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 AGCAGGTCACGAAGGTGACTG 0.657 NA OREG0021012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 10 0 0 0 0 MTA2 9219 broad.mit.edu 37 11 62365499 62365499 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:62365499C>A uc001ntq.1 - 6 868 c.487G>T c.(487-489)GAG>TAG p.E163* MTA2_uc010rlx.1_5'UTR NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 163 ELM2. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGCTTACCCTCTACTAGGCGA 0.313 NA 58 155 7.06e-25 7.85e-25 1 0 MTA2 9219 broad.mit.edu 37 11 62365820 62365820 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:62365820C>G uc001ntq.1 - 5 732 c.351G>C c.(349-351)TTG>TTC p.L117F MTA2_uc010rlx.1_5'UTR NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 117 BAH. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGTACTGGCTCAAGATATCTG 0.517 NA 181 348 0 0 0 0 STX5 6811 broad.mit.edu 37 11 62575026 62575026 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:62575026G>T uc001nvh.2 - 11 1137 c.983C>A c.(982-984)TCT>TAT p.S328Y NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmi.1_Missense_Mutation_p.S232Y|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.S274Y|STX5_uc010rmj.1_3'UTR|STX5_uc001nvj.2_Missense_Mutation_p.S143Y NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 328 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 GGAGGTGACAGACTGGAAGTA 0.532 NA 14 24 7.93e-07 8.34e-07 1 0 RTN3 10313 broad.mit.edu 37 11 63487851 63487851 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:63487851C>A uc001nxq.2 + 3 2064 c.1877C>A c.(1876-1878)TCA>TAA p.S626* RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Nonsense_Mutation_p.S607*|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Nonsense_Mutation_p.S514*|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 626 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 ACAGAATTCTCATTAAATGTG 0.388 NA 40 62 5.59e-11 6.02e-11 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64603995 64603995 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:64603995C>G uc001obs.3 - 12 1392 c.1392G>C c.(1390-1392)CTG>CTC p.L464L NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 464 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 CCTTGTCCCTCAGCATCTCTG 0.602 NA OREG0004017 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 38 0 0 0 0 ATG2A 23130 broad.mit.edu 37 11 64662529 64662529 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:64662529C>G uc001obx.2 - 41 5848 c.5733G>C c.(5731-5733)CTG>CTC p.L1911L uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Silent_p.L676L NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1911 protein binding ovary(1)|central_nervous_system(1) 2 TGCCCCCGAGCAGGCTGGACG 0.706 NA 23 47 0 0 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177168 67177168 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:67177168C>G uc001ola.2 + 10 1313 c.1284C>G c.(1282-1284)ATC>ATG p.I428M PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 428 Interaction with calcineurin. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCCCCCCATCGAGGGGCCCC 0.682 NA 11 25 0 0 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177203 67177203 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:67177203C>G uc001ola.2 + 10 1348 c.1319C>G c.(1318-1320)TCC>TGC p.S440C PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 440 Interaction with calcineurin. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCTCCACCTCCTTCCTGGAC 0.657 NA 19 22 0 0 0 0 GAL 51083 broad.mit.edu 37 11 68456340 68456340 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:68456340G>C uc001oob.2 + 5 465 c.247G>C c.(247-249)GAA>CAA p.E83Q NM_015973 NP_057057 P22466 GALA_HUMAN galanin preproprotein 83 growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction extracellular region neuropeptide hormone activity 0 Esophageal squamous(3;7.33e-10) Melanoma(852;0.0749) LUAD - Lung adenocarcinoma(13;0.0514) Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154) GTCCATACCTGAAAACAATAT 0.418 NA 5 28 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68542817 68542817 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:68542817G>A uc001oog.3 - 13 1712 c.1542C>T c.(1540-1542)TAC>TAT p.Y514Y CPT1A_uc001oof.3_Silent_p.Y514Y|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 514 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GCCTGGTGGGGTACGGAATGT 0.502 NA 44 75 0 0 0 0 FADD 8772 broad.mit.edu 37 11 70049837 70049837 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:70049837C>T uc001opm.2 + 1 569 c.272C>T c.(271-273)GCG>GTG p.A91V NM_003824 NP_003815 Q13158 FADD_HUMAN Fas-associated via death domain 91 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding ovary(1)|lung(1)|pancreas(1) 3 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) gccggggccgcgcctggggaa 0.507 NA 3 12 0 0 0 0 PHOX2A 401 broad.mit.edu 37 11 71952253 71952253 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:71952253C>T uc001osh.3 - 2 470 c.298G>A c.(298-300)GCG>ACG p.A100T NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 100 Homeobox. noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTGAGCTGCGCGCTGGTGAAC 0.637 NA 15 23 0 0 0 0 RELT 84957 broad.mit.edu 37 11 73101849 73101849 + Nonsense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:73101849C>G uc001otv.2 + 4 335 c.170C>G c.(169-171)TCA>TGA p.S57* RELT_uc001otw.2_Nonsense_Mutation_p.S57*|RELT_uc009yto.1_5'UTR|RELT_uc001otx.2_5'Flank NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 57 TNFR-Cys.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 GGCACCTTCTCAGCTGCATGG 0.647 NA 22 58 0 0 0 0 ZBTB16 7704 broad.mit.edu 37 11 113935271 113935271 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:113935271G>A uc001pop.2 + 2 1513 c.1249G>A c.(1249-1251)GAG>AAG p.E417K ZBTB16_uc001poo.1_Missense_Mutation_p.E417K|ZBTB16_uc001poq.2_Missense_Mutation_p.E417K NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 417 C2H2-type 1. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TCCTGATAACGAGGCTGTGGA 0.632 NA 21 10 0 0 0 0 ZBTB16 7704 broad.mit.edu 37 11 114121062 114121062 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:114121062G>C uc001pop.2 + 7 2071 c.1807G>C c.(1807-1809)GAG>CAG p.E603Q ZBTB16_uc001poq.2_Missense_Mutation_p.E603Q NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 603 C2H2-type 8. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GAAGCCCTTTGAGTGTAAGCT 0.622 NA 21 23 0 0 0 0 OR8D1 283159 broad.mit.edu 37 11 124180474 124180474 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:124180474G>A uc010sag.1 - 1 189 c.189C>T c.(187-189)CTC>CTT p.L63L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ACAAGCTGCTGAGGAAATAGT 0.463 NA 26 24 0 0 0 0 PUS3 83480 broad.mit.edu 37 11 125765351 125765351 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:125765351G>C uc001qcy.2 - 3 810 c.712C>G c.(712-714)CAG>GAG p.Q238E HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron NM_031307 NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 238 nucleus RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) ATAGTCCTCTGAAAATTAATC 0.443 NA 34 18 0 0 0 0 GLB1L2 89944 broad.mit.edu 37 11 134241000 134241000 + Silent SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:134241000C>A uc001qhp.2 + 13 1502 c.1314C>A c.(1312-1314)ACC>ACA p.T438T GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 438 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCAGCATCACCTCGTCTGGCA 0.527 NA 43 81 2.62e-09 2.8e-09 1 0 CACNA1C 775 broad.mit.edu 37 12 2774867 2774867 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:2774867G>A uc009zdu.1 + 38 4976 c.4663G>A c.(4663-4665)GAA>AAA p.E1555K CACNA1C_uc009zdv.1_Missense_Mutation_p.E1504K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1494K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1529K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1555K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1527K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1524K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1535K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1232K|CACNA1C_uc010sea.1_Missense_Mutation_p.E198K NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1555 Cytoplasmic (Potential).|By similarity. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTATGACCCTGAAGCCAAGTA 0.517 NA 10 18 0 0 0 0 CD27 939 broad.mit.edu 37 12 6554306 6554306 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:6554306G>A uc001qod.2 + 1 256 c.45G>A c.(43-45)CTG>CTA p.L15L LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 15 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 TGGGGACCCTGGTGGGGCTCT 0.642 NA 9 15 0 0 0 0 DUSP16 80824 broad.mit.edu 37 12 12630651 12630651 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:12630651C>G uc001rao.1 - 7 1746 c.1114G>C c.(1114-1116)GAG>CAG p.E372Q DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.E224Q NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 372 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) GGGCTGTCCTCTAACAGCGAC 0.517 NA 23 35 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 14019074 14019074 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:14019074G>C uc001rbt.2 - 2 248 c.69C>G c.(67-69)GGC>GGG p.G23G NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 23 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAGCTCTGCTGCCTGACACGG 0.582 NA 23 34 0 0 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18439791 18439791 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:18439791G>C uc001rdt.2 + 3 805 c.689G>C c.(688-690)TGT>TCT p.C230S PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.C230S|PIK3C2G_uc010sic.1_Missense_Mutation_p.C8S NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 230 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TCAATAGGTTGTTCCATTCAG 0.299 NA 3 8 0 0 0 0 RECQL 5965 broad.mit.edu 37 12 21629873 21629873 + Silent SNP G G C rs138413466 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:21629873G>C uc001rex.2 - 9 1269 c.921C>G c.(919-921)CTC>CTG p.L307L RECQL_uc001rey.2_Silent_p.L307L NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 307 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 TCCCATTAATGAGCTTTACAA 0.318 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 3 23 0 0 0 0 C12orf71 728858 broad.mit.edu 37 12 27235188 27235188 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:27235188G>C uc001rhq.2 - 1 268 c.229C>G c.(229-231)CAG>GAG p.Q77E NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 77 0 GGTTCATCCTGAATTTGGTCT 0.507 NA 17 30 0 0 0 0 MRPS35 60488 broad.mit.edu 37 12 27869326 27869326 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:27869326C>G uc001rih.2 + 3 304 c.256C>G c.(256-258)CGA>GGA p.R86G MRPS35_uc001rii.2_Missense_Mutation_p.R86G NM_021821 NP_068593 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 precursor 86 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 Lung SC(9;0.0873) TCTTCCTGTTCGAATGGGTTA 0.433 NA 25 27 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40696615 40696615 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:40696615C>G uc001rmg.3 + 26 3642 c.3521C>G c.(3520-3522)TCT>TGT p.S1174C LRRK2_uc001rmh.1_Missense_Mutation_p.S796C|LRRK2_uc009zjw.2_Missense_Mutation_p.S12C|LRRK2_uc001rmi.2_Missense_Mutation_p.S7C NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1174 LRR 8. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTGCCTCCTTCTATGACAATC 0.269 NA 46 121 0 0 0 0 C12orf54 121273 broad.mit.edu 37 12 48888677 48888677 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:48888677G>A uc001rrr.2 + 7 396 c.339G>A c.(337-339)CTG>CTA p.L113L C12orf54_uc009zky.1_RNA NM_152319 NP_689532 Q6X4T0 CL054_HUMAN hypothetical protein LOC121273 113 0 TCCACAACCTGAAGACACAGC 0.498 NA 45 84 0 0 0 0 OR8S1 341568 broad.mit.edu 37 12 48919697 48919697 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:48919697G>A uc010slu.1 + 1 283 c.283G>A c.(283-285)GAG>AAG p.E95K NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CATTTCAGTAGAGGGCTGCCT 0.527 NA 21 53 0 0 0 0 OR8S1 341568 broad.mit.edu 37 12 48919765 48919765 + Silent SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:48919765G>T uc010slu.1 + 1 351 c.351G>T c.(349-351)GGG>GGT p.G117G NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCTCTCAGGGATGGCCTATG 0.537 NA 38 67 6.53e-18 7.18e-18 1 0 SCN8A 6334 broad.mit.edu 37 12 52156422 52156422 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:52156422G>C uc001ryw.2 + 15 2684 c.2506G>C c.(2506-2508)GAC>CAC p.D836H SCN8A_uc010snl.1_Missense_Mutation_p.D701H|SCN8A_uc001ryy.2_Missense_Mutation_p.D701H NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 836 II. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GAGTCTAGCAGACGTGGAGGG 0.408 NA 47 86 0 0 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879964 53879964 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:53879964C>T uc001sdm.1 - 5 696 c.598G>A c.(598-600)GAG>AAG p.E200K MAP3K12_uc001sdn.1_Missense_Mutation_p.E233K NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 200 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 CGCAGTACCTCATACAGCTGG 0.597 NA 23 34 0 0 0 0 HOXC13 3229 broad.mit.edu 37 12 54338956 54338956 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:54338956G>C uc001sei.2 + 2 1024 c.909G>C c.(907-909)CAG>CAC p.Q303H HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 303 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CTGAGCGCCAGGTAACCATCT 0.577 NA T NUP98 AML 26 39 0 0 0 0 STAT2 6773 broad.mit.edu 37 12 56742395 56742395 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:56742395G>T uc001slc.2 - 19 1720 c.1642C>A c.(1642-1644)CCT>ACT p.P548T STAT2_uc001slb.2_Missense_Mutation_p.P90T|STAT2_uc001sld.2_Missense_Mutation_p.P544T NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 548 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 AACTTGCCAGGAGGGCTCTCT 0.527 NA 35 52 2.42e-17 2.65e-17 1 0 LRP1 4035 broad.mit.edu 37 12 57573152 57573152 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:57573152C>T uc001snd.2 + 29 5245 c.4779C>T c.(4777-4779)ATC>ATT p.I1593I NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1593 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGATGGAGATCCGAGGTGTGG 0.567 NA 13 19 0 0 0 0 SHMT2 6472 broad.mit.edu 37 12 57626334 57626334 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:57626334C>G uc001snf.1 + 6 703 c.693C>G c.(691-693)CTC>CTG p.L231L SHMT2_uc001sng.1_Silent_p.L127L|SHMT2_uc001snh.1_Silent_p.L70L|SHMT2_uc009zpk.1_Silent_p.L221L|SHMT2_uc001sni.1_Silent_p.L210L|SHMT2_uc010srg.1_Silent_p.L240L|SHMT2_uc001snj.1_Silent_p.L135L|SHMT2_uc010srh.1_Silent_p.L210L|SHMT2_uc001snk.1_Silent_p.L135L|SHMT2_uc010sri.1_Silent_p.L210L|SHMT2_uc001snl.2_Silent_p.L135L|SHMT2_uc010srj.1_5'Flank NM_005412 NP_005403 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 231 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity ovary(1)|central_nervous_system(1) 2 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) ATGCTCGCCTCATTGACTACG 0.632 NA 46 90 0 0 0 0 INHBE 83729 broad.mit.edu 37 12 57850383 57850383 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:57850383G>A uc001snw.2 + 2 1029 c.805G>A c.(805-807)GAG>AAG p.E269K NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 269 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 ACTGCAGCCCGAGGGGTACCA 0.612 NA OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 48 0 0 0 0 METTL1 4234 broad.mit.edu 37 12 58163393 58163393 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:58163393G>C uc010ssd.1 - 4 576 c.528C>G c.(526-528)ATC>ATG p.I176M CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Missense_Mutation_p.Q115E|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank NM_005371 NP_005362 Q9UBP6 TRMB_HUMAN methyltransferase-like protein 1 isoform a 176 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding 0 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) GGGTGGGACTGATGATTCGCC 0.542 NA 45 95 0 0 0 0 E2F7 144455 broad.mit.edu 37 12 77419538 77419538 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:77419538C>T uc001sym.3 - 12 2601 c.2365G>A c.(2365-2367)GGA>AGA p.G789R E2F7_uc009zse.2_Intron NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 789 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 GCTATTGATCCAAGGCCAGGC 0.537 NA 20 32 0 0 0 0 C12orf50 160419 broad.mit.edu 37 12 88381726 88381726 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:88381726G>A uc001tam.1 - 9 886 c.718C>T c.(718-720)CAT>TAT p.H240Y C12orf50_uc001tan.2_Intron NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 240 skin(2)|ovary(1) 3 TGCTTTGGATGAGGACTGTCC 0.333 NA 24 37 0 0 0 0 FGD6 55785 broad.mit.edu 37 12 95603900 95603900 + Missense_Mutation SNP T T A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:95603900T>A uc001tdp.3 - 2 1384 c.1160A>T c.(1159-1161)AAT>ATT p.N387I FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 387 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 GGATTCCATATTCAATTCACT 0.333 NA 30 68 0 0 0 0 FGD6 55785 broad.mit.edu 37 12 95603902 95603902 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:95603902C>T uc001tdp.3 - 2 1382 c.1158G>A c.(1156-1158)TTG>TTA p.L386L FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 386 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 ATTCCATATTCAATTCACTTT 0.333 NA 29 68 0 0 0 0 ARL1 400 broad.mit.edu 37 12 101794928 101794928 + Nonsense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:101794928G>C uc001tib.2 - 4 397 c.248C>G c.(247-249)TCA>TGA p.S83* ARL1_uc010svn.1_Nonsense_Mutation_p.S37*|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Nonsense_Mutation_p.S83* NM_001177 NP_001168 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 83 small GTPase mediated signal transduction Golgi membrane enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding central_nervous_system(1) 1 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) ATCTGTGTTTGAATAGTAACA 0.368 NA 28 77 0 0 0 0 CORO1C 23603 broad.mit.edu 37 12 109051145 109051145 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:109051145C>T uc001tnj.2 - 6 781 c.685G>A c.(685-687)GAT>AAT p.D229N CORO1C_uc009zva.2_Missense_Mutation_p.D282N|CORO1C_uc010sxf.1_Missense_Mutation_p.D192N NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 229 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 ACATTGCCATCGGCCAGGAAG 0.547 NA 37 54 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109675123 109675123 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:109675123G>C uc001tob.2 + 34 4719 c.4600G>C c.(4600-4602)GAA>CAA p.E1534Q ACACB_uc001toc.2_Missense_Mutation_p.E1534Q|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E200Q NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1534 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGAAGGTGTGGAAGTGACGGA 0.532 NA 27 42 0 0 0 0 UBE3B 89910 broad.mit.edu 37 12 109945505 109945505 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:109945505G>A uc001top.2 + 15 2190 c.1587G>A c.(1585-1587)CTG>CTA p.L529L UBE3B_uc001toq.2_Silent_p.L529L|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L529L NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 529 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TGGCCATGCTGATGCTGTTCT 0.498 NA 56 82 0 0 0 0 TRPV4 59341 broad.mit.edu 37 12 110246198 110246198 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:110246198G>C uc001tpj.1 - 2 557 c.462C>G c.(460-462)CTC>CTG p.L154L TRPV4_uc001tpg.1_Silent_p.L120L|TRPV4_uc001tph.1_Silent_p.L154L|TRPV4_uc001tpi.1_Silent_p.L154L|TRPV4_uc001tpk.1_Silent_p.L154L|TRPV4_uc001tpl.1_Silent_p.L154L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 154 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CGATGTCAAAGAGGATAGGCC 0.607 NA 17 56 0 0 0 0 DDX54 79039 broad.mit.edu 37 12 113612896 113612896 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:113612896C>A uc001tup.2 - 8 847 c.819G>T c.(817-819)CAG>CAT p.Q273H DDX54_uc001tuq.3_Missense_Mutation_p.Q273H NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 273 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 ACAGCACCGTCTGGTGGCCCC 0.468 NA OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 53 1.22e-17 1.34e-17 1 0 WSB2 55884 broad.mit.edu 37 12 118474261 118474261 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:118474261G>C uc001twr.2 - 6 813 c.715C>G c.(715-717)CAA>GAA p.Q239E WSB2_uc010sza.1_Missense_Mutation_p.Q14E|WSB2_uc010szb.1_Missense_Mutation_p.Q29E|WSB2_uc009zws.1_Missense_Mutation_p.Q239E NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 239 WD 4. intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACACTGCTTTGATGGCCCTCT 0.507 NA 56 87 0 0 0 0 CCDC64 92558 broad.mit.edu 37 12 120518755 120518755 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:120518755C>T uc001txl.1 + 7 1398 c.1373C>T c.(1372-1374)TCT>TTT p.S458F CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.S129F|CCDC64_uc010szf.1_Missense_Mutation_p.S155F NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 458 Potential. Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGAGTCACTTCTGAGGACAAG 0.498 NA 21 34 0 0 0 0 GPR109B 8843 broad.mit.edu 37 12 123200745 123200745 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:123200745G>C uc001ucy.3 - 1 695 c.540C>G c.(538-540)TTC>TTG p.F180L GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 180 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GGCAGATGCTGAAGCTGATGC 0.522 NA 25 53 0 0 0 0 GPR133 283383 broad.mit.edu 37 12 131569129 131569129 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:131569129G>C uc001uit.3 + 15 2151 c.1592G>C c.(1591-1593)AGA>ACA p.R531T GPR133_uc010tbm.1_Missense_Mutation_p.R563T|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R50T NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 531 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCGCTCACGAGAGGAAACCTC 0.622 NA 20 32 0 0 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24243009 24243009 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr13:24243009G>A uc001uov.1 + 9 1082 c.1018G>A c.(1018-1020)GAA>AAA p.E340K TNFRSF19_uc001uot.2_Missense_Mutation_p.E340K|TNFRSF19_uc010tcu.1_Missense_Mutation_p.E208K|TNFRSF19_uc001uow.2_Missense_Mutation_p.E340K NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 340 Cytoplasmic (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TCTCAATCCAGAACTTGAAAG 0.448 NA 46 40 0 0 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149790 45149790 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr13:45149790G>C uc001uzn.3 - 1 912 c.421C>G c.(421-423)CTG>GTG p.L141V TSC22D1_uc001uzo.1_Missense_Mutation_p.L141V NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 141 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) GATTCATCCAGATCATCATAG 0.488 NA 26 21 0 0 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149798 45149798 + Missense_Mutation SNP T T C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr13:45149798T>C uc001uzn.3 - 1 904 c.413A>G c.(412-414)TAT>TGT p.Y138C TSC22D1_uc001uzo.1_Missense_Mutation_p.Y138C NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 138 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CAGATCATCATAGCTCTCAGT 0.473 NA 25 23 0 0 0 0 RAP2A 5911 broad.mit.edu 37 13 98086796 98086796 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr13:98086796G>C uc001vnd.2 + 1 322 c.72G>C c.(70-72)GTG>GTC p.V24V NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 24 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) TGCAGTTCGTGACCGGCACCT 0.542 NA 34 19 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23901905 23901905 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:23901905C>T uc001wjx.2 - 5 551 c.445G>A c.(445-447)GAG>AAG p.E149K NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 149 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGCGGGGCCTCGCTCCTCTTC 0.597 NA 47 30 0 0 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886199 24886199 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:24886199C>T uc001wpf.3 + 9 5562 c.5244C>T c.(5242-5244)TTC>TTT p.F1748F NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1748 Integrase catalytic. DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 ACCTGGCCTTCAGGGCCTCCT 0.612 NA 12 9 0 0 0 0 POLE2 5427 broad.mit.edu 37 14 50117106 50117106 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:50117106G>C uc001wwu.2 - 17 1388 c.1374C>G c.(1372-1374)GTC>GTG p.V458V SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.V172V|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.V173V NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 458 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) ACACTGGGCAGACATAAAGAG 0.398 NA 44 20 0 0 0 0 DLGAP5 9787 broad.mit.edu 37 14 55625316 55625316 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:55625316C>G uc001xbs.2 - 14 2014 c.1797G>C c.(1795-1797)GTG>GTC p.V599V DLGAP5_uc001xbt.2_Silent_p.V599V NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 599 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 CCTTTGGTATCACAGAAACTG 0.363 NA 30 23 0 0 0 0 SLC35F4 341880 broad.mit.edu 37 14 58048118 58048118 + Silent SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:58048118C>A uc001xdb.1 - 4 729 c.729G>T c.(727-729)CTG>CTT p.L243L SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.L84L NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 GTTTCAGCGTCAGACCATCTT 0.403 NA 3 9 0.004672 0.00476727 1 0 ACTN1 87 broad.mit.edu 37 14 69352204 69352204 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:69352204C>G uc001xkl.2 - 12 1633 c.1323G>C c.(1321-1323)GAG>GAC p.E441D ACTN1_uc001xkk.2_Missense_Mutation_p.E37D|ACTN1_uc010ttb.1_Missense_Mutation_p.E376D|ACTN1_uc001xkm.2_Missense_Mutation_p.E441D|ACTN1_uc001xkn.2_Missense_Mutation_p.E441D|ACTN1_uc010ttc.1_Missense_Mutation_p.E26D|ACTN1_uc001xko.1_Missense_Mutation_p.E376D|ACTN1_uc010ttd.1_Missense_Mutation_p.E420D NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 441 Spectrin 2.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCAGGTCACTCTCGAAGGCCT 0.617 NA 16 11 0 0 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70839806 70839806 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:70839806C>T uc001xmc.3 - 4 467 c.340G>A c.(340-342)GAC>AAC p.D114N SYNJ2BP_uc010arc.2_RNA NM_018373 NP_060843 P57105 SYJ2B_HUMAN synaptojanin 2 binding protein 114 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane 0 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CCACTTGGGTCCCCTTCACCT 0.463 NA 38 21 0 0 0 0 ADAM21 8747 broad.mit.edu 37 14 70925890 70925890 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:70925890C>G uc001xmd.2 + 1 1674 c.1674C>G c.(1672-1674)GTC>GTG p.V558V NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 558 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCTCTGATGTCTTTTGTGGGA 0.398 NA 34 20 0 0 0 0 SPTLC2 9517 broad.mit.edu 37 14 77984395 77984395 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:77984395C>G uc001xub.2 - 11 1743 c.1555G>C c.(1555-1557)GAA>CAA p.E519Q NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 519 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCAAGTATTTCTTTGGTATGA 0.393 NA 48 15 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92488172 92488172 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:92488172C>G uc001xzy.2 - 4 1104 c.316G>C c.(316-318)GAA>CAA p.E106Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 106 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TGGCTGATTTCTACCTATATA 0.358 NA T PDGFRB AML 20 15 0 0 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756786 94756786 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:94756786C>A uc001yct.2 - 2 611 c.145G>T c.(145-147)GAG>TAG p.E49* SERPINA10_uc001ycu.3_Nonsense_Mutation_p.E49* NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 49 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TCATCTTCCTCTTCCTCCTTG 0.617 NA 6 5 0.00116845 0.00120075 1 0 ATG2B 55102 broad.mit.edu 37 14 96783494 96783494 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:96783494G>A uc001yfi.2 - 20 3563 c.3198C>T c.(3196-3198)TTC>TTT p.F1066F NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1066 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCACATCTGTGAACACTGCTA 0.323 NA 34 33 0 0 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206422 104206422 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:104206422G>A uc001yof.1 - 12 2614 c.2331C>T c.(2329-2331)CCC>CCT p.P777P PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P644P NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 777 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GTGGGGCTGTGGGCTGGGCAG 0.602 NA 51 32 0 0 0 0 NDN 4692 broad.mit.edu 37 15 23932341 23932341 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:23932341C>G uc001ywk.2 - 1 110 c.24G>C c.(22-24)CTG>CTC p.L8L NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 8 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TAGGGTCGCTCAGATCCTTAC 0.657 NA Prader-Willi_syndrome 9 26 0 0 0 0 UBE3A 7337 broad.mit.edu 37 15 25599757 25599757 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:25599757C>T uc001zaq.2 - 8 2207 c.2207G>A c.(2206-2208)GGT>GAT p.G736D uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.G713D|UBE3A_uc001zas.2_Missense_Mutation_p.G733D|UBE3A_uc001zat.2_Missense_Mutation_p.G713D NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 736 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CATATGAAAACCTCTCCGAAA 0.353 NA 34 64 0 0 0 0 GABRA5 2558 broad.mit.edu 37 15 27188522 27188522 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:27188522G>C uc001zbd.1 + 11 1377 c.1038G>C c.(1036-1038)AAG>AAC p.K346N GABRA5_uc001zbe.1_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 346 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTTTACCAAGAGAGGCTGGG 0.522 NA 3 5 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34646777 34646777 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:34646777C>G uc001zif.2 + 5 1277 c.1122C>G c.(1120-1122)ATC>ATG p.I374M C15orf55_uc010ucc.1_Missense_Mutation_p.I402M|C15orf55_uc010ucd.1_Missense_Mutation_p.I392M NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 374 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ATGTTGACATCATGGAATGGC 0.587 NA T BRD3|BRD4 lethal midline carcinoma 40 57 0 0 0 0 PLCB2 5330 broad.mit.edu 37 15 40591134 40591134 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:40591134C>G uc001zld.2 - 9 1016 c.715G>C c.(715-717)GAG>CAG p.E239Q PLCB2_uc010bbo.2_Missense_Mutation_p.E239Q|PLCB2_uc010ucm.1_Missense_Mutation_p.E239Q NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 239 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GTCAGGTGCTCCTTCGTCATG 0.577 NA 26 69 0 0 0 0 CDAN1 146059 broad.mit.edu 37 15 43020963 43020963 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:43020963G>C uc001zql.2 - 20 2808 c.2691C>G c.(2689-2691)CTC>CTG p.L897L CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.L223L NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 897 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) GCTGCTCTTGGAGAAGTGACT 0.607 NA 16 23 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44955770 44955770 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:44955770G>C uc001ztx.2 - 1 107 c.76C>G c.(76-78)CTA>GTA p.L26V SPG11_uc010ueh.1_Missense_Mutation_p.L26V|SPG11_uc010uei.1_Missense_Mutation_p.L26V|SPG11_uc001zua.1_Missense_Mutation_p.L26V NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 26 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGCATCGGTAGAACCCGCCCC 0.721 NA 5 3 0 0 0 0 LEO1 123169 broad.mit.edu 37 15 52242003 52242003 + Splice_Site SNP A A T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:52242003A>T uc002abo.2 - 10 1814 c.1798_splice c.e10+1 p.E600_splice LEO1_uc010bfd.2_Splice_Site_p.E540_splice NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding 0 all cancers(107;0.00264) TACACGACTCACCTCGAATGC 0.453 NA 53 128 0 0 0 0 RNF111 54778 broad.mit.edu 37 15 59373350 59373350 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:59373350C>T uc002afv.2 + 8 2443 c.2164C>T c.(2164-2166)CAG>TAG p.Q722* RNF111_uc002afs.2_Nonsense_Mutation_p.Q722*|RNF111_uc002aft.2_Nonsense_Mutation_p.Q722*|RNF111_uc002afu.2_Nonsense_Mutation_p.Q721*|RNF111_uc002afw.2_Nonsense_Mutation_p.Q722*|RNF111_uc002afx.2_Nonsense_Mutation_p.Q248* NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 722 Pro-rich. 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) ACCAATCCCTCAGCATCTTCC 0.502 NA 48 91 0 0 0 0 RORA 6095 broad.mit.edu 37 15 60795042 60795042 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:60795042C>T uc002agv.2 - 9 1355 c.1199G>A c.(1198-1200)AGA>AAA p.R400K uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R312K|RORA_uc002agw.2_Missense_Mutation_p.R392K|RORA_uc002agx.2_Missense_Mutation_p.R367K NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 400 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 ACGGCACATTCTGATAAACAC 0.458 NA 104 172 0 0 0 0 MYO9A 4649 broad.mit.edu 37 15 72154892 72154892 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:72154892C>T uc002atl.3 - 33 6513 c.6040G>A c.(6040-6042)GAA>AAA p.E2014K MYO9A_uc002atk.2_Missense_Mutation_p.E809K NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2014 Tail.|Phorbol-ester/DAG-type 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 GAACAGTATTCACAGTATGTA 0.358 NA 31 41 0 0 0 0 IREB2 3658 broad.mit.edu 37 15 78783062 78783062 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:78783062C>G uc002bdr.2 + 18 2445 c.2283C>G c.(2281-2283)ATC>ATG p.I761M IREB2_uc010unb.1_Missense_Mutation_p.I511M NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 761 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) CAGGAAGTATCGCTAGGAATA 0.398 NA 85 151 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81592437 81592437 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:81592437C>T uc002bgh.3 + 14 3146 c.2770C>T c.(2770-2772)CCC>TCC p.P924S IL16_uc010blq.1_Missense_Mutation_p.P878S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P966S|IL16_uc002bgg.2_Missense_Mutation_p.P924S|IL16_uc002bgi.1_Missense_Mutation_p.P314S|IL16_uc002bgj.2_Missense_Mutation_p.P418S|IL16_uc002bgk.2_Missense_Mutation_p.P223S|IL16_uc002bgl.1_Missense_Mutation_p.P223S|IL16_uc010unq.1_Missense_Mutation_p.P223S NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 924 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TGAGTCCCCTCCCCCAGGGCG 0.652 NA 36 42 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85399943 85399943 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr15:85399943G>A uc002ble.2 + 6 2747 c.2580G>A c.(2578-2580)CAG>CAA p.Q860Q NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 860 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAGTGCACAGAAGGGCATGA 0.542 NA 15 32 0 0 0 0 PDIA2 64714 broad.mit.edu 37 16 336596 336596 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:336596G>C uc002cgn.1 + 14 2391 c.1283G>C c.(1282-1284)TGG>TCG p.W428S PDIA2_uc010bqt.1_Missense_Mutation_p.W273S|PDIA2_uc002cgo.1_Missense_Mutation_p.W428S NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 428 Thioredoxin 2. apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCCCTGCCTGGGAGGCATTG 0.627 NA 17 36 0 0 0 0 FBXL16 146330 broad.mit.edu 37 16 745766 745766 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:745766G>T uc002cjc.2 - 4 994 c.791C>A c.(790-792)TCG>TAG p.S264* FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Nonsense_Mutation_p.S52* NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 264 LRR 1. 0 Hepatocellular(780;0.0218) CAGCAGCTGCGAGATGGCCGC 0.692 NA 7 20 0.000673444 0.000693706 1 0 RPL3L 6123 broad.mit.edu 37 16 1996986 1996986 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:1996986G>A uc002cnh.2 - 6 849 c.802C>T c.(802-804)CGG>TGG p.R268W NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 268 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 TGCCCGGCCCGAGCAATGGAG 0.672 NA 31 69 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2153846 2153846 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:2153846C>G uc002cos.1 - 23 8421 c.8212G>C c.(8212-8214)GAG>CAG p.E2738Q PKD1_uc002cot.1_Missense_Mutation_p.E2738Q|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2738 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCTCCCAGCTCTGAGGGCTGT 0.567 NA 4 10 0 0 0 0 DCI 1632 broad.mit.edu 37 16 2296965 2296965 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:2296965C>G uc002cpr.2 - 3 225 c.189G>C c.(187-189)AAG>AAC p.K63N DCI_uc002cps.2_Missense_Mutation_p.K63N NM_001919 NP_001910 P42126 ECI1_HUMAN dodecenoyl-Coenzyme A delta isomerase precursor 63 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity 0 CTGGGGGGTTCTTGAATTTCA 0.517 NA 12 25 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2334310 2334310 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:2334310C>T uc002cpy.1 - 25 4544 c.3832G>A c.(3832-3834)GAG>AAG p.E1278K ABCA3_uc010bsk.1_Missense_Mutation_p.E1220K NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1278 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GCGGCGACCTCGGAGGAGGTG 0.622 NA 22 34 0 0 0 0 PRSS27 83886 broad.mit.edu 37 16 2764177 2764177 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:2764177G>C uc002crf.2 - 4 788 c.397C>G c.(397-399)CCA>GCA p.P133A PRSS27_uc002cre.2_Missense_Mutation_p.P97A|PRSS27_uc002crg.2_Missense_Mutation_p.P31A|PRSS27_uc010bst.1_Missense_Mutation_p.P31A NM_031948 NP_114154 Q9BQR3 PRS27_HUMAN marapsin precursor 133 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 AAGGGCACTGGTGCCTCCAGC 0.647 NA 23 26 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3779048 3779048 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:3779048C>T uc002cvv.2 - 31 6204 c.6000G>A c.(5998-6000)CTG>CTA p.L2000L CREBBP_uc002cvw.2_Silent_p.L1962L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2000 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) GGGGCACATTCAGGCTCACGG 0.692 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 7 4 0 0 0 0 LITAF 9516 broad.mit.edu 37 16 11643571 11643571 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:11643571G>C uc002daz.2 - 4 641 c.408C>G c.(406-408)TTC>TTG p.F136L LITAF_uc002dba.2_3'UTR|LITAF_uc002dbb.2_Missense_Mutation_p.F136L|LITAF_uc002dbc.2_Missense_Mutation_p.F136L|LITAF_uc002dbd.2_Missense_Mutation_p.F136L NM_004862 NP_004853 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF-alpha factor 136 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding liver(1) 1 CATCCACGCAGAAGGGGATGA 0.582 NA 11 13 0 0 0 0 TXNDC11 51061 broad.mit.edu 37 16 11773491 11773491 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:11773491C>T uc010buu.1 - 13 2580 c.2518G>A c.(2518-2520)GAA>AAA p.E840K TXNDC11_uc002dbg.1_Missense_Mutation_p.E813K NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 840 Potential. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 CTGCTTATTTCTGCTCTCAGT 0.597 NA 20 39 0 0 0 0 MYH11 4629 broad.mit.edu 37 16 15917115 15917115 + Nonsense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:15917115G>A uc002ddy.2 - 3 606 c.499C>T c.(499-501)CAA>TAA p.Q167* MYH11_uc002ddv.2_Nonsense_Mutation_p.Q167*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q167*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q167*|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Nonsense_Mutation_p.Q167* NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 167 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CACTCACCTTGAAGCATGCTC 0.592 NA T CBFB AML 25 51 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20952835 20952835 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:20952835G>C uc010vbe.1 - 59 11542 c.11542C>G c.(11542-11544)CTC>GTC p.L3848V DNAH3_uc010vbd.1_Missense_Mutation_p.L1283V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3848 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGCTTGGAGAGAATGTCTTGT 0.478 NA 56 151 0 0 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24950913 24950913 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:24950913C>G uc002dnb.2 - 17 1589 c.1496G>C c.(1495-1497)GGT>GCT p.G499A ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Missense_Mutation_p.G23A|ARHGAP17_uc002dna.2_Missense_Mutation_p.G226A|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 499 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) AAGCTTCACACCAAAGCTACA 0.537 NA 15 9 0 0 0 0 HIRIP3 8479 broad.mit.edu 37 16 30006744 30006744 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:30006744G>T uc002dve.2 - 2 567 c.106C>A c.(106-108)CAC>AAC p.H36N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.H36N NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 36 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 CGGCCCGAGTGAGCTAAGTAC 0.662 NA 19 52 8.28e-16 9.06e-16 1 0 N4BP1 9683 broad.mit.edu 37 16 48595137 48595137 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:48595137C>T uc002efp.2 - 2 1654 c.1417G>A c.(1417-1419)GAA>AAA p.E473K NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 473 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) CCCCAGACTTCATGTTTCTGT 0.383 NA 30 58 0 0 0 0 N4BP1 9683 broad.mit.edu 37 16 48595296 48595296 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:48595296C>A uc002efp.2 - 2 1495 c.1258G>T c.(1258-1260)GAG>TAG p.E420* NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 420 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) GTTGTAAGCTCATTTGTGCTG 0.363 NA 27 40 7.42e-09 7.89e-09 1 0 ADCY7 113 broad.mit.edu 37 16 50325658 50325658 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:50325658C>T uc002egd.1 + 3 655 c.387C>T c.(385-387)TTC>TTT p.F129F ADCY7_uc002egb.1_Silent_p.F129F|ADCY7_uc002egc.1_Silent_p.F129F NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 129 Helical; (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) TGCCCTTCTTCCTGTTCATTG 0.657 NA 4 19 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51174620 51174620 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:51174620G>C uc010vgs.1 - 2 1544 c.1513C>G c.(1513-1515)CAT>GAT p.H505D SALL1_uc010vgr.1_Missense_Mutation_p.H408D|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 505 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATCTGGATATGAGGGTATTTC 0.512 NA 41 74 0 0 0 0 BBS2 583 broad.mit.edu 37 16 56536599 56536599 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:56536599G>A uc002ejd.2 - 8 1160 c.926C>T c.(925-927)TCA>TTA p.S309L BBS2_uc010ccg.2_Missense_Mutation_p.S309L NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 309 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 CCCATCCACTGAGCAGCAGAT 0.408 NA Bardet-Biedl_syndrome 43 86 0 0 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238671 57238671 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:57238671G>A uc002elb.2 + 2 379 c.101G>A c.(100-102)GGA>GAA p.G34E RSPRY1_uc002elc.2_Missense_Mutation_p.G34E|RSPRY1_uc002eld.2_Missense_Mutation_p.G34E|RSPRY1_uc002ele.1_Missense_Mutation_p.G34E NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 34 extracellular region zinc ion binding ovary(1) 1 CTAGGGACTGGAGGTGCCGCT 0.532 NA 88 131 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57954370 57954370 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:57954370G>C uc002emt.2 - 19 1787 c.1722C>G c.(1720-1722)CTC>CTG p.L574L CNGB1_uc010cdh.2_Silent_p.L568L NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 574 IQ-like.|Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GCTCCTTGAAGAGCTTCACCA 0.592 NA 40 40 0 0 0 0 CCDC113 29070 broad.mit.edu 37 16 58301439 58301439 + Silent SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:58301439G>T uc002ene.2 + 7 919 c.840G>T c.(838-840)CTG>CTT p.L280L CCDC113_uc010vid.1_Silent_p.L226L NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 280 Potential. protein complex 0 AGATCTTGCTGAGAAAAGAGC 0.383 NA 32 53 1.56e-22 1.74e-22 1 0 CMTM2 146225 broad.mit.edu 37 16 66620961 66620961 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:66620961G>C uc002ept.2 + 3 666 c.506G>C c.(505-507)AGA>ACA p.R169T CMTM2_uc010cdu.2_Missense_Mutation_p.R116T NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 169 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) TTTGCTGTGAGAAGTCGGCGA 0.517 NA 37 85 0 0 0 0 CES8 283848 broad.mit.edu 37 16 67042973 67042973 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:67042973C>G uc002eqv.2 + 12 1447 c.1404C>G c.(1402-1404)CTC>CTG p.L468L CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.L440L|CES8_uc002eqx.2_Silent_p.L344L|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.L440L|CES8_uc002eqz.2_RNA NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 538 extracellular region carboxylesterase activity 0 GCATGAAGCTCAAGGAGAAGA 0.493 NA 64 132 0 0 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67861873 67861873 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:67861873C>G uc002euj.2 + 16 2348 c.1954C>G c.(1954-1956)CGA>GGA p.R652G TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R706G|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R637G|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R385G NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 652 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) TGTGGGACCTCGAGAGCCAGA 0.537 NA 36 74 0 0 0 0 LCAT 3931 broad.mit.edu 37 16 67974294 67974294 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:67974294G>C uc002euy.1 - 6 847 c.836C>G c.(835-837)TCT>TGT p.S279C NM_000229 NP_000220 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase precursor 279 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) CGCCATGCGAGAGGGAAACAT 0.552 NA 34 76 0 0 0 0 SLC12A4 6560 broad.mit.edu 37 16 67985730 67985730 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:67985730G>C uc002euz.2 - 8 1269 c.1128C>G c.(1126-1128)CTC>CTG p.L376L SLC12A4_uc010ceu.2_Silent_p.L370L|SLC12A4_uc010vkh.1_Silent_p.L345L|SLC12A4_uc010vki.1_Silent_p.L376L|SLC12A4_uc010vkj.1_Silent_p.L378L|SLC12A4_uc002eva.2_Silent_p.L376L|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 376 Helical; (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) ACCCACCCTGGAGCACACCAG 0.632 NA 8 14 0 0 0 0 NFATC3 4775 broad.mit.edu 37 16 68217146 68217146 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:68217146C>G uc002evo.1 + 8 2185 c.1975C>G c.(1975-1977)CAC>GAC p.H659D NFATC3_uc010vkl.1_Missense_Mutation_p.H180D|NFATC3_uc010vkm.1_Missense_Mutation_p.H180D|NFATC3_uc010vkn.1_Missense_Mutation_p.H180D|NFATC3_uc010vko.1_Missense_Mutation_p.H180D|NFATC3_uc010vkp.1_Missense_Mutation_p.H180D|NFATC3_uc010vkq.1_Missense_Mutation_p.H180D|NFATC3_uc002evl.2_Missense_Mutation_p.H180D|NFATC3_uc002evk.2_Missense_Mutation_p.H659D|NFATC3_uc002evm.1_Missense_Mutation_p.H659D|NFATC3_uc002evn.1_Missense_Mutation_p.H659D|NFATC3_uc010vkr.1_Missense_Mutation_p.H180D|NFATC3_uc010vks.1_Missense_Mutation_p.H180D|NFATC3_uc010vkt.1_Missense_Mutation_p.H180D|NFATC3_uc010vku.1_Missense_Mutation_p.H180D|NFATC3_uc010vkv.1_Missense_Mutation_p.H180D|NFATC3_uc010vkw.1_Missense_Mutation_p.H180D|NFATC3_uc010vkx.1_Missense_Mutation_p.H180D|NFATC3_uc010vky.1_Missense_Mutation_p.H180D|NFATC3_uc010vkz.1_Missense_Mutation_p.H180D|NFATC3_uc010vla.1_Missense_Mutation_p.H180D|NFATC3_uc010vlb.1_Missense_Mutation_p.H180D|NFATC3_uc010vlc.1_Missense_Mutation_p.H180D NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 659 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TCCTTAGGCTCACATTGTCCT 0.418 NA 44 95 0 0 0 0 ATP2C2 9914 broad.mit.edu 37 16 84444203 84444203 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:84444203C>T uc002fhx.2 + 5 536 c.447C>T c.(445-447)TTC>TTT p.F149F ATP2C2_uc010chj.2_Silent_p.F149F|ATP2C2_uc002fhy.2_Silent_p.F166F|ATP2C2_uc002fhz.2_Missense_Mutation_p.S19L NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 149 Helical; Name=2; (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 CTGTCGCCTTCATCCAGGTGA 0.582 NA 46 38 0 0 0 0 FBXO31 79791 broad.mit.edu 37 16 87369778 87369778 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:87369778G>C uc002fjw.2 - 6 869 c.825C>G c.(823-825)ATC>ATG p.I275M FBXO31_uc010vot.1_Missense_Mutation_p.I103M|FBXO31_uc002fjv.2_Missense_Mutation_p.I167M NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 275 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) GACTGGTGTAGATGAACTTCA 0.617 NA 12 17 0 0 0 0 CBFA2T3 863 broad.mit.edu 37 16 88947816 88947816 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr16:88947816C>T uc002fmm.1 - 9 1471 c.1285G>A c.(1285-1287)GAG>AAG p.E429K CBFA2T3_uc002fml.1_Missense_Mutation_p.E343K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E368K|CBFA2T3_uc002fmk.1_5'Flank NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 429 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) TTGAGCTCCTCGCGGTCGGCC 0.587 NA T RUNX1 AML 6 3 0 0 0 0 VPS53 55275 broad.mit.edu 37 17 463774 463775 + Missense_Mutation DNP GA GA AT TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:463774_463775GA>AT uc002frn.2 - 15 1742_1743 c.1595_1596TC>AT c.(1594-1596)CTC>CAT p.L532H VPS53_uc002frk.2_Missense_Mutation_p.L51H|VPS53_uc010cjo.1_Missense_Mutation_p.L532H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.L503H|VPS53_uc002fro.2_Missense_Mutation_p.L334H|VPS53_uc010cjp.1_Missense_Mutation_p.L255H NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 532 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TTTCCTTGAGGAGGCTGCTGAT 0.495 NA 3 35 0 0 0 0 GLOD4 51031 broad.mit.edu 37 17 685477 685477 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:685477G>A uc002frv.2 - 1 95 c.19C>T c.(19-21)CTG>TTG p.L7L GLOD4_uc002fru.2_Silent_p.L7L|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank NM_016080 NP_057164 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 7 mitochondrion 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) ACGAAGTGCAGAGCTCTGCGA 0.667 NA 8 8 0 0 0 0 RNMTL1 55178 broad.mit.edu 37 17 685930 685930 + Silent SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:685930G>T uc002frw.2 + 1 418 c.312G>T c.(310-312)CTG>CTT p.L104L GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank NM_018146 NP_060616 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 104 RNA processing protein binding|RNA binding|RNA methyltransferase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) ACAGGAGGCTGAGGTGATGTG 0.572 NA 6 6 0.00116845 0.00120075 1 0 MED11 400569 broad.mit.edu 37 17 4636382 4636382 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:4636382C>G uc002fyp.2 + 3 316 c.254C>G c.(253-255)TCT>TGT p.S85C NM_001001683 NP_001001683 Q9P086 MED11_HUMAN mediator complex subunit 11 85 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding 0 TCCAGCTACTCTTCGAGGAAG 0.552 NA 35 19 0 0 0 0 EIF4A1 1973 broad.mit.edu 37 17 7481674 7481674 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:7481674G>C uc002gho.1 + 19 2416 c.1091G>C c.(1090-1092)GGA>GCA p.G364A EIF4A1_uc002ghr.1_Missense_Mutation_p.W343C|EIF4A1_uc002ghq.1_Missense_Mutation_p.W337C|EIF4A1_uc002ghp.1_Missense_Mutation_p.G364A|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 364 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 GGTCGAGGTGGACGGTTTGGC 0.507 NA 4 102 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8379172 8379172 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:8379172C>G uc002gll.2 - 41 5977 c.5881G>C c.(5881-5883)GAA>CAA p.E1961Q MYH10_uc002glm.2_Missense_Mutation_p.E1992Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1970Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1961 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 GTCTTACTTTCTGTGTCATCG 0.582 NA 88 61 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8393817 8393817 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:8393817C>G uc002gll.2 - 33 4728 c.4632G>C c.(4630-4632)ATG>ATC p.M1544I MYH10_uc002glm.2_Missense_Mutation_p.M1575I|MYH10_uc010cnx.2_Missense_Mutation_p.M1553I NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1544 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 GCTGGGTCCTCATTTCCTCCA 0.557 NA 36 32 0 0 0 0 FLOT2 2319 broad.mit.edu 37 17 27208935 27208935 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:27208935C>G uc002hdc.2 - 8 934 c.811G>C c.(811-813)GAG>CAG p.E271Q NM_004475 NP_004466 Q14254 FLOT2_HUMAN flotillin 2 271 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) TCCTGTGCCTCCACGGCAATC 0.612 NA 21 43 0 0 0 0 EFCAB5 374786 broad.mit.edu 37 17 28361326 28361326 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:28361326G>T uc002het.2 + 8 1315 c.1123G>T c.(1123-1125)GAA>TAA p.E375* EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E118*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.E319*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.E32*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.E254*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.E254* NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 375 calcium ion binding ovary(1)|skin(1) 2 CTCTGCAGATGAATTTCGGGA 0.413 NA 12 38 3.07e-06 3.22e-06 1 0 ATAD5 79915 broad.mit.edu 37 17 29185216 29185216 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:29185216G>C uc002hfs.1 + 9 3177 c.2831G>C c.(2830-2832)AGA>ACA p.R944T ATAD5_uc002hft.1_Missense_Mutation_p.R841T NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 944 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAAGAAGTAAGAAATCTTTTG 0.303 NA 24 34 0 0 0 0 CACNB1 782 broad.mit.edu 37 17 37340341 37340341 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:37340341G>C uc002hrm.1 - 10 994 c.841C>G c.(841-843)CTC>GTC p.L281V CACNB1_uc002hrl.1_Missense_Mutation_p.L53V|CACNB1_uc002hrn.2_Missense_Mutation_p.L281V|CACNB1_uc002hro.2_Missense_Mutation_p.L326V NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 281 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GGGTTGTTGAGAACTGAGCGC 0.582 NA 22 36 0 0 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38347604 38347604 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:38347604G>A uc010cwu.1 + 9 1244 c.754G>A c.(754-756)GGC>AGC p.G252S RAPGEFL1_uc010wfd.1_Missense_Mutation_p.G188S NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 458 Ras-GEF. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CGGGGAGCGCGGCCGCCGGGA 0.711 NA 9 9 0 0 0 0 KRT38 8687 broad.mit.edu 37 17 39595601 39595601 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:39595601C>T uc002hwq.1 - 3 1009 c.586G>A c.(586-588)GAG>AAG p.E196K NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 196 Rod.|Coil 1B. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) AGGGAGCGCTCACTCTCCAGC 0.622 NA 22 46 0 0 0 0 KRT17 3872 broad.mit.edu 37 17 39780615 39780615 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:39780615G>A uc002hxh.2 - 1 268 c.147C>T c.(145-147)GGC>GGT p.G49G JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Silent_p.G49G NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 49 Head. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) CGAGGGTGCTGCCCAGGCCGC 0.701 NA Steatocystoma_Multiplex 12 18 0 0 0 0 FAM134C 162427 broad.mit.edu 37 17 40733894 40733894 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:40733894G>C uc002ial.2 - 9 1441 c.1338C>G c.(1336-1338)GAC>GAG p.D446E FAM134C_uc010wgq.1_Missense_Mutation_p.D246E|FAM134C_uc002iam.1_Missense_Mutation_p.D246E|FAM134C_uc010cyk.1_Missense_Mutation_p.D349E NM_178126 NP_835227 Q86VR2 F134C_HUMAN hypothetical protein LOC162427 446 integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GAAGTTCAAAGTCATCCCCCT 0.587 NA 22 32 0 0 0 0 FAM134C 162427 broad.mit.edu 37 17 40734073 40734073 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:40734073G>A uc002ial.2 - 9 1262 c.1159C>T c.(1159-1161)CTT>TTT p.L387F FAM134C_uc010wgq.1_Missense_Mutation_p.L187F|FAM134C_uc002iam.1_Missense_Mutation_p.L187F|FAM134C_uc010cyk.1_Missense_Mutation_p.L290F NM_178126 NP_835227 Q86VR2 F134C_HUMAN hypothetical protein LOC162427 387 integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) CCTACAGGAAGAGCACCAAGC 0.657 NA 35 55 0 0 0 0 NAGS 162417 broad.mit.edu 37 17 42084746 42084746 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:42084746C>G uc002ies.2 + 5 1152 c.1152C>G c.(1150-1152)GAC>GAG p.D384E PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.D384E|NAGS_uc002iet.2_Missense_Mutation_p.D8E NM_153006 NP_694551 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 384 N-acetyltransferase. arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity 0 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) GCAGCCTGGACAAGCTGGACC 0.662 NA OREG0024449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 32 0 0 0 0 SLC4A1 6521 broad.mit.edu 37 17 42338013 42338013 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:42338013G>C uc002igf.3 - 5 488 c.339C>G c.(337-339)GTC>GTG p.V113V SLC4A1_uc002igg.3_Silent_p.V113V NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 113 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCTTGGTGAAGACTCTACGCA 0.642 NA 23 28 0 0 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246753 43246753 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:43246753C>A uc002iih.1 + 4 677 c.438C>A c.(436-438)TTC>TTA p.F146L HEXIM2_uc010daf.1_Missense_Mutation_p.F168L|HEXIM2_uc002iii.1_Missense_Mutation_p.F146L|HEXIM2_uc002iij.1_Missense_Mutation_p.F146L|uc002iik.1_RNA NM_144608 NP_653209 Q96MH2 HEXI2_HUMAN hexamthylene bis-acetamide inducible 2 146 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding 0 CCACCCAGTTCCTGATGAATG 0.632 NA 18 29 2.39e-15 2.61e-15 1 0 KIAA1267 284058 broad.mit.edu 37 17 44248690 44248690 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:44248690G>C uc002ikb.2 - 1 905 c.820C>G c.(820-822)CTT>GTT p.L274V KIAA1267_uc002ikc.2_Missense_Mutation_p.L274V|KIAA1267_uc002ikd.2_Missense_Mutation_p.L274V|KIAA1267_uc010dav.2_Missense_Mutation_p.L274V NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 274 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) GCACTGAAAAGAATGGAAGAC 0.483 NA 20 76 0 0 0 0 TTLL6 284076 broad.mit.edu 37 17 46862508 46862508 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:46862508C>G uc010wlo.1 - 14 1852 c.1817G>C c.(1816-1818)AGA>ACA p.R606T TTLL6_uc002iob.2_Missense_Mutation_p.R299T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.R359T|TTLL6_uc002iod.2_Missense_Mutation_p.R453T NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 558 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 CCTTTCACCTCTGACACTCAA 0.527 NA 37 63 0 0 0 0 SNF8 11267 broad.mit.edu 37 17 47022055 47022055 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:47022055C>G uc002ioj.2 - 1 100 c.42G>C c.(40-42)AAG>AAC p.K14N SNF8_uc002iok.2_Missense_Mutation_p.K14N NM_007241 NP_009172 Q96H20 SNF8_HUMAN EAP30 subunit of ELL complex 14 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding 0 CTGCAAGTTTCTTCTTGGCGA 0.522 NA 86 128 0 0 0 0 SPAG9 9043 broad.mit.edu 37 17 49054546 49054546 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:49054546G>C uc002itc.2 - 27 3655 c.3446C>G c.(3445-3447)ACA>AGA p.T1149R SPAG9_uc002itb.2_Missense_Mutation_p.T1135R|SPAG9_uc002itd.2_Missense_Mutation_p.T1139R|SPAG9_uc002ita.2_Missense_Mutation_p.T992R NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 1149 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CATAAGAGCTGTAATTCTCAC 0.388 NA 55 82 0 0 0 0 TEX2 55852 broad.mit.edu 37 17 62290455 62290455 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:62290455C>T uc002jec.2 - 2 1296 c.1123G>A c.(1123-1125)GAG>AAG p.E375K TEX2_uc002jed.2_Missense_Mutation_p.E375K|TEX2_uc002jee.2_Missense_Mutation_p.E375K NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 375 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CTTGTGGGCTCACCAGTGGAC 0.483 NA 41 109 0 0 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66524033 66524033 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:66524033C>G uc002jhg.2 + 8 941 c.761C>G c.(760-762)TCT>TGT p.S254C PRKAR1A_uc002jhh.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhi.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhj.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhk.2_Missense_Mutation_p.S130C|PRKAR1A_uc002jhl.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhm.2_Missense_Mutation_p.S254C NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 254 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) AGTAAAGTCTCTATTTTAGGT 0.353 NA T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of 29 77 0 0 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281968 71281968 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:71281968G>A uc002jjn.2 - 2 819 c.672C>T c.(670-672)ATC>ATT p.I224I CDC42EP4_uc002jjo.2_Silent_p.I224I|CDC42EP4_uc002jjp.1_Silent_p.I154I NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 224 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CCTTGTCCATGATGCTGAGGA 0.657 NA 25 72 0 0 0 0 SDK2 54549 broad.mit.edu 37 17 71364591 71364591 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:71364591C>T uc010dfm.2 - 37 5122 c.5122G>A c.(5122-5124)GAT>AAT p.D1708N SDK2_uc002jjt.3_Missense_Mutation_p.D848N|SDK2_uc010dfn.2_Missense_Mutation_p.D1387N NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1708 Fibronectin type-III 11.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CGAGGCCCATCCCCAGCGGCG 0.647 NA 3 21 0 0 0 0 SDK2 54549 broad.mit.edu 37 17 71415334 71415334 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:71415334C>G uc010dfm.2 - 16 2157 c.2157G>C c.(2155-2157)CAG>CAC p.Q719H SDK2_uc010dfn.2_Missense_Mutation_p.Q398H NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 719 Extracellular (Potential).|Fibronectin type-III 2. cell adhesion integral to membrane ovary(2) 2 GAATTCCATTCTGGTGGCTCT 0.617 NA 7 17 0 0 0 0 NT5C 30833 broad.mit.edu 37 17 73127368 73127368 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:73127368C>T uc002jmx.2 - 2 258 c.183G>A c.(181-183)GTG>GTA p.V61V NT5C_uc002jmy.2_RNA NM_014595 NP_055410 Q8TCD5 NT5C_HUMAN 5',3'-nucleotidase, cytosolic 61 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process cytosol|nucleus 5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding 0 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) ACACACTGGCCACTTTATCCT 0.652 NA 7 21 0 0 0 0 LLGL2 3993 broad.mit.edu 37 17 73569168 73569168 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:73569168G>A uc002joh.2 + 20 2688 c.2534G>A c.(2533-2535)CGG>CAG p.R845Q LLGL2_uc002joi.2_Missense_Mutation_p.R845Q|LLGL2_uc010dgg.1_Missense_Mutation_p.R845Q|LLGL2_uc002joj.2_Missense_Mutation_p.R834Q|LLGL2_uc010wsd.1_Missense_Mutation_p.R472Q NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 845 WD 13. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGAGTGCGGCGGGTCAGCGTG 0.647 NA 30 19 0 0 0 0 ITGB4 3691 broad.mit.edu 37 17 73736024 73736024 + Missense_Mutation SNP A A G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:73736024A>G uc002jpg.2 + 20 2505 c.2318A>G c.(2317-2319)CAC>CGC p.H773R ITGB4_uc002jph.2_Missense_Mutation_p.H773R|ITGB4_uc010dgo.2_Missense_Mutation_p.H773R|ITGB4_uc002jpi.3_Missense_Mutation_p.H773R|ITGB4_uc010dgp.1_Missense_Mutation_p.H773R|ITGB4_uc002jpj.2_Missense_Mutation_p.H773R NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 773 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTCTGACCACTTGGACACG 0.612 NA 13 57 0 0 0 0 EVPL 2125 broad.mit.edu 37 17 74006418 74006418 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:74006418C>T uc002jqi.2 - 22 3096 c.2868G>A c.(2866-2868)GAG>GAA p.E956E EVPL_uc010wss.1_Silent_p.E978E|EVPL_uc010wst.1_Silent_p.E426E NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 956 Central fibrous rod domain.|Potential. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CCACTTCCTTCTCCTCCAGCC 0.682 NA 16 55 0 0 0 0 CYTH1 9267 broad.mit.edu 37 17 76694965 76694965 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:76694965C>G uc002jvw.2 - 8 707 c.636G>C c.(634-636)GAG>GAC p.E212D CYTH1_uc010wtw.1_Missense_Mutation_p.E153D|CYTH1_uc010wtx.1_Missense_Mutation_p.E153D NM_017456 NP_059430 Q15438 CYH1_HUMAN cytohesin 1 isoform 2 212 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CAATGAACCTCTCCACAGTGG 0.483 NA 122 344 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78348306 78348306 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:78348306G>A uc002jyh.1 + 25 7433 c.7210G>A c.(7210-7212)GGC>AGC p.G2404S uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G786S NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTGGTGTACGGCGATGAATA 0.562 NA 22 69 0 0 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954344 79954344 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:79954344G>C uc002kcx.2 + 7 652 c.555G>C c.(553-555)CTG>CTC p.L185L ASPSCR1_uc002kcw.1_Silent_p.L185L|ASPSCR1_uc002kcy.2_Silent_p.L185L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Silent_p.L108L|ASPSCR1_uc002kdb.1_Silent_p.L108L NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 185 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CAGGAAGCCTGGGCTCGTCAG 0.667 NA T TFE3 alveolar soft part sarcoma 8 36 0 0 0 0 SMCHD1 23347 broad.mit.edu 37 18 2700762 2700762 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:2700762G>C uc002klm.3 + 12 1682 c.1493G>C c.(1492-1494)AGA>ACA p.R498T SMCHD1_uc002klk.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 498 chromosome organization ATP binding 0 CCTAAGAAGAGAGGGCTTGCA 0.338 NA 24 31 0 0 0 0 SMCHD1 23347 broad.mit.edu 37 18 2724980 2724980 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:2724980C>A uc002klm.3 + 21 2876 c.2687C>A c.(2686-2688)TCT>TAT p.S896Y SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 896 chromosome organization ATP binding 0 CCTGTAAACTCTTGTCAAGGC 0.323 NA 10 10 0.000673444 0.000693706 1 0 ABHD3 171586 broad.mit.edu 37 18 19237110 19237110 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:19237110G>A uc002ktl.2 - 7 986 c.846C>T c.(844-846)CAC>CAT p.H282H ABHD3_uc002ktm.2_Silent_p.H229H|ABHD3_uc002ktk.2_Silent_p.H87H|ABHD3_uc002ktn.2_Silent_p.H59H NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 282 integral to membrane carboxylesterase activity central_nervous_system(1) 1 ACATATGTCGGTGCCTGGAAC 0.299 NA 7 16 0 0 0 0 TTC39C 125488 broad.mit.edu 37 18 21705475 21705475 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:21705475C>G uc002kuw.2 + 10 1833 c.1381C>G c.(1381-1383)CCA>GCA p.P461A TTC39C_uc002kuu.2_Missense_Mutation_p.P400A NM_001135993 NP_001129465 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C isoform 1 461 binding ovary(1) 1 GAAAGCTCTTCCAAACTGTTC 0.463 NA 25 40 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31314318 31314318 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:31314318G>T uc010dmg.1 + 10 1076 c.1021G>T c.(1021-1023)GAG>TAG p.E341* ASXL3_uc002kxq.2_Nonsense_Mutation_p.E48* NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCAAGAAATTGAGAAGGAAAA 0.323 NA 8 21 9.7e-10 1.04e-09 1 0 ONECUT2 9480 broad.mit.edu 37 18 55103474 55103474 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:55103474C>T uc002lgo.2 + 1 558 c.526C>T c.(526-528)CCG>TCG p.P176S NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 176 Poly-His. organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) gcaccaccatccgcaccacca 0.478 NA 6 5 0 0 0 0 KIAA1468 57614 broad.mit.edu 37 18 59895656 59895656 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:59895656G>A uc002lil.2 + 8 1488 c.1273G>A c.(1273-1275)GTA>ATA p.V425I KIAA1468_uc002lik.1_Missense_Mutation_p.V425I|KIAA1468_uc010xel.1_Missense_Mutation_p.V425I|KIAA1468_uc002lim.2_Missense_Mutation_p.V69I NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 425 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GCATCCAGATGTAAATAGTTC 0.428 NA 26 50 0 0 0 0 PHLPP1 23239 broad.mit.edu 37 18 60642700 60642700 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:60642700G>C uc002lis.2 + 17 2468 c.2290G>C c.(2290-2292)GAT>CAT p.D764H NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1276 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 TGACCCTGTGGATCCAGGAGG 0.522 NA 64 97 0 0 0 0 PHLPP1 23239 broad.mit.edu 37 18 60642822 60642822 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:60642822G>A uc002lis.2 + 17 2590 c.2412G>A c.(2410-2412)CTG>CTA p.L804L NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1316 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 AAGAAGAGCTGAAGAGGATTA 0.443 NA 51 87 0 0 0 0 VPS4B 9525 broad.mit.edu 37 18 61064456 61064456 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:61064456C>T uc002lix.2 - 9 1163 c.903G>A c.(901-903)CCG>CCA p.P301P VPS4B_uc010dpx.2_Silent_p.P301P|VPS4B_uc010dpy.2_Silent_p.P183P|VPS4B_uc010dpz.1_Silent_p.P183P NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 301 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 CATGGGGTTCCGGCAAGGGAA 0.393 NA 6 58 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72344264 72344264 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr18:72344264G>A uc002llw.2 + 1 1346 c.1289G>A c.(1288-1290)CGA>CAA p.R430Q ZNF407_uc010xfc.1_Missense_Mutation_p.R430Q|ZNF407_uc010dqu.1_Missense_Mutation_p.R430Q|ZNF407_uc002llu.2_Missense_Mutation_p.R429Q NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TTTCGTCGACGAAGCAGCACT 0.428 NA 44 52 0 0 0 0 POLRMT 5442 broad.mit.edu 37 19 619625 619625 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:619625C>A uc002lpf.1 - 13 3083 c.3027G>T c.(3025-3027)CAG>CAT p.Q1009H NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1009 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCTTCTCAATCTGCAGGCGCC 0.612 NA 27 51 7.76e-22 8.6e-22 1 0 CNN2 1265 broad.mit.edu 37 19 1032417 1032417 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:1032417C>G uc002lqu.2 + 3 575 c.212C>G c.(211-213)TCC>TGC p.S71C CNN2_uc002lqt.1_Missense_Mutation_p.S71C|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.S71C|CNN2_uc010xgb.1_Missense_Mutation_p.S71C|CNN2_uc010xgc.1_Missense_Mutation_p.S71C NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 71 CH. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCGGGCTCCGTCCCCAAG 0.622 NA 40 67 0 0 0 0 REXO1 57455 broad.mit.edu 37 19 1828053 1828053 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:1828053G>A uc002lua.3 - 2 830 c.735C>T c.(733-735)CTC>CTT p.L245L REXO1_uc010dsr.1_Silent_p.L199L NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 245 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCCCTGCTGAGGTGCCGGG 0.677 NA 23 43 0 0 0 0 SGTA 6449 broad.mit.edu 37 19 2759262 2759262 + Nonsense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:2759262G>A uc002lwi.1 - 9 877 c.730C>T c.(730-732)CAG>TAG p.Q244* NM_003021 NP_003012 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide 244 interspecies interaction between organisms cytoplasm protein binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGCTGCTGAATCTGGGGA 0.328 NA 62 145 0 0 0 0 ZNF555 148254 broad.mit.edu 37 19 2851477 2851477 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:2851477C>G uc002lwo.2 + 3 231 c.142C>G c.(142-144)CAA>GAA p.Q48E ZNF555_uc002lwn.3_Missense_Mutation_p.Q48E NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 48 KRAB. 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) TGATGAAACTCAATTTAAGGC 0.393 NA 18 25 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9066076 9066076 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:9066076G>A uc002mkp.2 - 3 21574 c.21370C>T c.(21370-21372)CTT>TTT p.L7124F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7126 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCACAGGAAGAGGAGAGGAG 0.517 NA 35 89 0 0 0 0 COL5A3 50509 broad.mit.edu 37 19 10104345 10104345 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:10104345C>T uc002mmq.1 - 18 1731 c.1645G>A c.(1645-1647)GAT>AAT p.D549N NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 549 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) AAGCCACGATCACCCTGTCCA 0.587 NA 18 47 0 0 0 0 RGL3 57139 broad.mit.edu 37 19 11517470 11517470 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:11517470G>A uc002mrp.2 - 6 772 c.708C>T c.(706-708)CTC>CTT p.L236L RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.L236L NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 236 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 CTTGAGGCATGAGCCCTTCCT 0.557 NA 22 34 0 0 0 0 ECSIT 51295 broad.mit.edu 37 19 11618651 11618651 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:11618651C>T uc002msb.2 - 6 945 c.811G>A c.(811-813)GAT>AAT p.D271N ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Intron|ECSIT_uc010dyd.2_Intron|ECSIT_uc010xma.1_Missense_Mutation_p.D57N NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN evolutionarily conserved signaling intermediate 271 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding ovary(1) 1 GCCTGCTGATCGGGACTCTGG 0.632 NA 14 30 0 0 0 0 ZNF69 7620 broad.mit.edu 37 19 11998761 11998761 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:11998761G>T uc002mst.3 + 1 92 c.23G>T c.(22-24)AGG>ATG p.R8M NM_021915 NP_068734 Q9UC07 ZNF69_HUMAN zinc finger protein 69 8 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung(535;0.011) AGTCACAGGAGGTGTAGAGAG 0.637 NA 15 41 4.75e-09 5.07e-09 1 0 ZNF700 90592 broad.mit.edu 37 19 12060754 12060754 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:12060754G>A uc002msu.2 + 4 2041 c.1915G>A c.(1915-1917)GAA>AAA p.E639K ZNF700_uc010xme.1_Missense_Mutation_p.E657K|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 639 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCAGATGCATGAAAGGACTCA 0.423 NA 32 62 0 0 0 0 PRKACA 5566 broad.mit.edu 37 19 14203941 14203941 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:14203941C>G uc002myc.2 - 10 1239 c.1039G>C c.(1039-1041)GAG>CAG p.E347Q SAMD1_uc010xnl.1_5'Flank|PRKACA_uc002myb.2_Missense_Mutation_p.E339Q NM_002730 NP_002721 P17612 KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit 347 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 TCAGAAAACTCCTTGCCACAC 0.453 NA 12 21 0 0 0 0 TECR 9524 broad.mit.edu 37 19 14676041 14676041 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:14676041C>T uc002mza.2 + 11 819 c.692C>T c.(691-693)CCC>CTC p.P231L TECR_uc002mzb.2_Missense_Mutation_p.P246L|TECR_uc010xns.1_Missense_Mutation_p.P76L|TECR_uc002mzc.2_Missense_Mutation_p.P76L|TECR_uc002mzd.2_Missense_Mutation_p.P261L|TECR_uc002mze.2_Missense_Mutation_p.P57L|TECR_uc002mzf.1_Missense_Mutation_p.P45L NM_138501 NP_612510 Q9NZ01 TECR_HUMAN glycoprotein, synaptic 2 231 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity 0 ATCCCATACCCCACCAAGAAC 0.637 NA 39 60 0 0 0 0 SYDE1 85360 broad.mit.edu 37 19 15224468 15224468 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:15224468G>A uc002nah.1 + 8 1933 c.1902G>A c.(1900-1902)GTG>GTA p.V634V SYDE1_uc002nai.1_Silent_p.V567V|SYDE1_uc002naj.1_Silent_p.V291V NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 634 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 CCGAAGTGGTGACTCGGCCCC 0.697 NA 38 81 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15292503 15292503 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:15292503C>G uc002nan.2 - 17 2752 c.2676G>C c.(2674-2676)CTG>CTC p.L892L NOTCH3_uc002nao.1_Silent_p.L840L NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 892 Extracellular (Potential).|EGF-like 23; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGGGGTTGCTCAGGCACTCAT 0.677 NA 3 1 0 0 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586745 15586745 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:15586745C>T uc002nbf.3 - 2 869 c.736G>A c.(736-738)GAG>AAG p.E246K PGLYRP2_uc002nbg.3_Missense_Mutation_p.E246K NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 246 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 CAGCAGCCCTCAGTTCCCAGG 0.617 NA 22 40 0 0 0 0 SLC27A1 376497 broad.mit.edu 37 19 17608070 17608070 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:17608070C>G uc002ngu.1 + 7 1053 c.1003C>G c.(1003-1005)CAG>GAG p.Q335E SLC27A1_uc002ngt.1_Missense_Mutation_p.Q67E|SLC27A1_uc010xpp.1_Missense_Mutation_p.Q156E|SLC27A1_uc002ngv.1_5'UTR NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 335 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 CCAGGTGGTTCAGTACATCGG 0.711 NA 10 19 0 0 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918980 17918980 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:17918980C>T uc002nhk.1 + 2 449 c.364C>T c.(364-366)CGC>TGC p.R122C B3GNT3_uc002nhl.1_Missense_Mutation_p.R122C|B3GNT3_uc010ebd.1_Missense_Mutation_p.R122C|B3GNT3_uc010ebe.1_Missense_Mutation_p.R122C NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 122 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CAACTATGTGCGCCGCGAGCT 0.677 NA 3 24 0 0 0 0 UPF1 5976 broad.mit.edu 37 19 18956861 18956861 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:18956861G>A uc002nkg.2 + 2 579 c.304G>A c.(304-306)GAG>AAG p.E102K UPF1_uc002nkf.2_Missense_Mutation_p.E102K NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 102 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 GTTGTTGGCTGAGTTGAACTT 0.577 NA 23 26 0 0 0 0 UPF1 5976 broad.mit.edu 37 19 18967806 18967806 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:18967806C>A uc002nkg.2 + 14 2253 c.1978C>A c.(1978-1980)CCC>ACC p.P660T UPF1_uc002nkf.2_Missense_Mutation_p.P649T|UPF1_uc002nkh.2_5'Flank NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 660 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 GTGCATGGTTCCCGTGGTCCT 0.582 NA 39 63 2.55e-27 2.84e-27 1 0 ZNF99 7652 broad.mit.edu 37 19 22940553 22940553 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:22940553G>C uc010xrh.1 - 5 1885 c.1885C>G c.(1885-1887)CTT>GTT p.L629V NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTTTTCTAAGAGTTGAGGAC 0.363 NA 24 49 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22952052 22952052 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:22952052C>A uc010xrh.1 - 2 141 c.141G>T c.(139-141)CAG>CAT p.Q47H NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATATAAATTCTGCTGAGCCA 0.383 NA 41 74 5.45e-19 6.01e-19 1 0 DPY19L3 147991 broad.mit.edu 37 19 32949405 32949405 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:32949405C>T uc002ntg.2 + 12 1488 c.1312C>T c.(1312-1314)CAT>TAT p.H438Y DPY19L3_uc002nth.1_Missense_Mutation_p.H438Y|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 438 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TGTTGCCTTTCATAATCTCAG 0.348 NA 81 117 0 0 0 0 PDCD2L 84306 broad.mit.edu 37 19 34904736 34904736 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:34904736C>G uc002nvj.2 + 5 814 c.781C>G c.(781-783)CAG>GAG p.Q261E NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 261 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TGCTGCTTGTCAGGAGCAGAT 0.328 NA 11 31 0 0 0 0 LRFN3 79414 broad.mit.edu 37 19 36431159 36431159 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:36431159C>T uc002oco.2 + 2 1284 c.832C>T c.(832-834)CTG>TTG p.L278L NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 278 LRRCT.|Extracellular (Potential). cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCACCTGCTCTGGGCGGCCG 0.711 NA 8 17 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38976417 38976417 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:38976417G>A uc002oit.2 + 34 5252 c.5122G>A c.(5122-5124)GCA>ACA p.A1708T RYR1_uc002oiu.2_Missense_Mutation_p.A1708T NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1708 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCACTGCGCGCAGGCTACTA 0.647 NA 25 44 0 0 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915437 39915437 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:39915437G>C uc010xuz.1 + 19 3989 c.3664G>C c.(3664-3666)GAC>CAC p.D1222H PLEKHG2_uc010xuy.1_Missense_Mutation_p.D1163H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.D1000H NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1222 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGCTCTCTAGACATTCAGGG 0.532 NA 83 163 0 0 0 0 SUPT5H 6829 broad.mit.edu 37 19 39962116 39962116 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:39962116C>T uc002olo.3 + 19 1976 c.1797C>T c.(1795-1797)ATC>ATT p.I599I SUPT5H_uc002olp.3_Silent_p.I599I|SUPT5H_uc002olq.3_Silent_p.I595I|SUPT5H_uc002oln.3_Silent_p.I599I|SUPT5H_uc002olr.3_Silent_p.I599I|SUPT5H_uc002ols.1_Silent_p.I222I|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 599 KOW 4. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGAAAGACATCGTTAAGGTCA 0.512 NA 29 51 0 0 0 0 SPTBN4 57731 broad.mit.edu 37 19 40996095 40996095 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:40996095C>G uc002ony.2 + 4 521 c.435C>G c.(433-435)ATC>ATG p.I145M SPTBN4_uc002onx.2_Missense_Mutation_p.I145M|SPTBN4_uc002onz.2_Missense_Mutation_p.I145M NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 145 CH 1.|Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGCATGACATCGTGGATGGGA 0.637 NA 26 35 0 0 0 0 EXOSC5 56915 broad.mit.edu 37 19 41895711 41895711 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:41895711C>G uc002oqo.2 - 4 507 c.484G>C c.(484-486)GAT>CAT p.D162H CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN exosome component Rrp46 162 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 AGGGTCCCATCAGAGTCCAGG 0.617 NA 49 73 0 0 0 0 GRIK5 2901 broad.mit.edu 37 19 42558072 42558072 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:42558072C>G uc002osj.1 - 9 1101 c.1066G>C c.(1066-1068)GAT>CAT p.D356H GRIK5_uc010eib.1_Missense_Mutation_p.D275H NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 356 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GTCAGCCCATCATACTCTACC 0.617 NA 12 17 0 0 0 0 TMEM145 284339 broad.mit.edu 37 19 42827884 42827884 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:42827884C>T uc002otk.1 + 14 1396 c.1344C>T c.(1342-1344)ATC>ATT p.I448I MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 448 integral to membrane 0 Prostate(69;0.00682) TGACGTTTATCAGCGACTCGG 0.682 NA 26 47 0 0 0 0 PVR 5817 broad.mit.edu 37 19 45161157 45161157 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:45161157G>A uc002ozm.2 + 5 1269 c.970G>A c.(970-972)GAA>AAA p.E324K PVR_uc010ejs.2_Missense_Mutation_p.E324K|PVR_uc010xxb.1_Missense_Mutation_p.E324K|PVR_uc010xxc.1_Missense_Mutation_p.E324K|PVR_uc002ozn.2_Missense_Mutation_p.E269K NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 324 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) TCGCCAGGCAGAACTGACCGT 0.572 NA OREG0025540 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 25 0 0 0 0 HIF3A 64344 broad.mit.edu 37 19 46800352 46800352 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:46800352C>G uc002peh.2 + 1 48 c.19C>G c.(19-21)CGC>GGC p.R7G HIF3A_uc002pef.1_Missense_Mutation_p.R7G|HIF3A_uc002peg.3_Missense_Mutation_p.R7G|HIF3A_uc010xxx.1_5'Flank|HIF3A_uc002pei.3_5'Flank|HIF3A_uc002pej.1_5'Flank|HIF3A_uc002pek.2_5'Flank|HIF3A_uc010xxy.1_5'Flank NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGGGCTGCAGCGCGCAAGGTA 0.716 NA 17 29 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47597670 47597670 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:47597670C>T uc002pga.3 - 3 395 c.357G>A c.(355-357)AAG>AAA p.K119K ZC3H4_uc002pgb.1_RNA NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 119 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCCTCTTCTTCGACCTCC 0.562 NA 137 280 0 0 0 0 SLC8A2 6543 broad.mit.edu 37 19 47960796 47960796 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:47960796C>A uc002pgx.2 - 3 1009 c.731G>T c.(730-732)TGG>TTG p.W244L SLC8A2_uc010xyq.1_5'UTR|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.W244L NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 244 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GTCGGCCATCCAGGCGAATAC 0.677 NA 24 35 5.62e-17 6.16e-17 1 0 TULP2 7288 broad.mit.edu 37 19 49391429 49391429 + Silent SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:49391429C>A uc002pkz.2 - 8 877 c.726G>T c.(724-726)CTG>CTT p.L242L NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 242 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 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;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CCTCGCCTTTCAGGGCCTTGG 0.592 NA 35 39 7.53e-24 8.37e-24 1 0 LIN7B 64130 broad.mit.edu 37 19 49621200 49621200 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:49621200G>A uc002pmp.2 + 5 571 c.527G>A c.(526-528)CGA>CAA p.R176Q PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank NM_022165 NP_071448 Q9HAP6 LIN7B_HUMAN lin-7 homolog B 176 exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding 0 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) TACACACCGCGAGTGCTGGAG 0.657 NA 34 78 0 0 0 0 HRC 3270 broad.mit.edu 37 19 49657828 49657828 + Missense_Mutation SNP C C G rs139799783 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:49657828C>G uc002pmv.2 - 1 854 c.667G>C c.(667-669)GAG>CAG p.E223Q NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 223 4 X tandem repeats, acidic.|2-4.|6 X approximate tandem repeats. 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) TCCTCATCCTCTTCACTCCCA 0.363 NA 14 36 0 0 0 0 AP2A1 160 broad.mit.edu 37 19 50285913 50285913 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:50285913C>T uc002ppn.2 + 4 616 c.405C>T c.(403-405)ATC>ATT p.I135I AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Silent_p.I135I NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 135 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) TGCACTGCATCGCCAACGTGG 0.647 NA 6 20 0 0 0 0 VRK3 51231 broad.mit.edu 37 19 50510833 50510833 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:50510833G>C uc002prg.2 - 5 638 c.540C>G c.(538-540)CTC>CTG p.L180L VRK3_uc002prh.1_Silent_p.L180L|VRK3_uc002pri.1_Silent_p.L130L|VRK3_uc010ens.2_Silent_p.L180L|VRK3_uc010ybl.1_Silent_p.L130L|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Silent_p.L130L|VRK3_uc002prk.1_Silent_p.L180L|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Silent_p.L180L|VRK3_uc010ybn.1_Silent_p.L180L NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 180 Protein kinase. nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TACCTTCATAGAGAATGCCCT 0.582 NA 24 74 0 0 0 0 ZNF473 25888 broad.mit.edu 37 19 50542425 50542425 + Missense_Mutation SNP T T G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:50542425T>G uc002prn.2 + 3 254 c.17T>G c.(16-18)GTG>GGG p.V6G ZNF473_uc002prm.2_Missense_Mutation_p.V6G|ZNF473_uc010ybo.1_5'UTR NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 6 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CAGGAATTTGTGACCCTCAAG 0.577 NA 45 97 0 0 0 0 ZNF432 9668 broad.mit.edu 37 19 52537236 52537236 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:52537236C>G uc002pyk.2 - 5 2014 c.1696G>C c.(1696-1698)GAG>CAG p.E566Q NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) CAAGATTTCTCTTCTGTATGA 0.398 NA 39 87 0 0 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55247444 55247444 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:55247444G>A uc002qgu.1 + 8 1132 c.1114G>A c.(1114-1116)GAT>AAT p.D372N KIR2DL3_uc002qgv.2_Intron|KIR2DL3_uc002qgx.2_5'Flank|KIR2DL3_uc002qgy.2_5'Flank|KIR2DL3_uc010erw.1_5'Flank NM_153443 NP_703144 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three 372 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) CCAGGACTCTGATGAACAAGA 0.542 NA 64 155 0 0 0 0 SBK2 646643 broad.mit.edu 37 19 56041144 56041144 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:56041144C>T uc010ygc.1 - 3 1003 c.1003G>A c.(1003-1005)GAG>AAG p.E335K NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 335 ATP binding|protein serine/threonine kinase activity 0 GCCTCCGCCTCGCCCTCCCGC 0.731 NA 17 23 0 0 0 0 ZNF547 284306 broad.mit.edu 37 19 57888534 57888534 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:57888534G>C uc002qol.2 + 4 383 c.190G>C c.(190-192)GAG>CAG p.E64Q ZNF547_uc002qpm.3_5'UTR|ZNF547_uc010ygx.1_Missense_Mutation_p.E64Q NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 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) GGCACCTTTAGAGCCAGGTGT 0.507 NA 22 38 0 0 0 0 ZNF211 10520 broad.mit.edu 37 19 58153116 58153116 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:58153116G>C uc002qpq.2 + 3 1442 c.1262G>C c.(1261-1263)GGA>GCA p.G421A ZNF211_uc010yhb.1_Missense_Mutation_p.G425A|ZNF211_uc002qpp.2_Missense_Mutation_p.G434A|ZNF211_uc002qpr.2_Missense_Mutation_p.G485A|ZNF211_uc002qps.2_Missense_Mutation_p.G486A|ZNF211_uc002qpt.2_Missense_Mutation_p.G433A|ZNF211_uc010yhc.1_Missense_Mutation_p.G433A|ZNF211_uc010yhd.1_Missense_Mutation_p.G360A|ZNF211_uc010yhe.1_Missense_Mutation_p.G412A NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 421 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTCACACTGGAGAAAGACCC 0.478 NA 26 57 0 0 0 0 GEN1 348654 broad.mit.edu 37 2 17946179 17946179 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:17946179G>C uc002rct.2 + 4 437 c.364G>C c.(364-366)GAA>CAA p.E122Q SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E122Q|GEN1_uc002rcu.2_Missense_Mutation_p.E122Q NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 122 I-domain. DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCATATGCTCGAATGCTTAGG 0.428 NA Homologous_recombination 68 27 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24522802 24522802 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:24522802C>G uc002rfe.2 - 12 1578 c.1320G>C c.(1318-1320)AGG>AGC p.R440S ITSN2_uc002rff.2_Missense_Mutation_p.R440S|ITSN2_uc002rfg.2_Missense_Mutation_p.R440S|ITSN2_uc010eyd.2_Missense_Mutation_p.R465S NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 440 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCTTTTCTCCTTTCTTCCT 0.299 NA 50 18 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24522843 24522843 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:24522843C>G uc002rfe.2 - 12 1537 c.1279G>C c.(1279-1281)GAG>CAG p.E427Q ITSN2_uc002rff.2_Missense_Mutation_p.E427Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E427Q|ITSN2_uc010eyd.2_Missense_Mutation_p.E452Q NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 427 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTTGCTTCTCTAAGCGTTTT 0.358 NA 70 25 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27712512 27712512 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:27712512C>T uc002rku.2 - 1 60 c.9G>A c.(7-9)TTG>TTA p.L3L IFT172_uc002rkw.2_Silent_p.L3L|IFT172_uc010yls.1_5'UTR|IFT172_uc010ezc.2_Silent_p.L3L|IFT172_uc002rkv.2_Silent_p.L3L|IFT172_uc010ylt.1_Silent_p.L3L NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 3 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TCAGGTGCTTCAAGTGCATGA 0.562 NA 26 12 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33488459 33488459 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:33488459G>T uc002ros.2 + 15 2620 c.2620G>T c.(2620-2622)GAA>TAA p.E874* LTBP1_uc002rot.2_Nonsense_Mutation_p.E548*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E547*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E494*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E547*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E494* NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 873 EGF-like 4; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TCAAGTGACAGGTTGGTGCAG 0.378 NA 32 71 1.63e-12 1.76e-12 1 0 SOS1 6654 broad.mit.edu 37 2 39262376 39262376 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:39262376G>C uc002rrk.3 - 8 1092 c.1051C>G c.(1051-1053)CTC>GTC p.L351V SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.L83V NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 351 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AAGTAATGGAGACAGTGGTAA 0.313 NA Noonan_syndrome 3 13 0 0 0 0 EPCAM 4072 broad.mit.edu 37 2 47596657 47596657 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:47596657C>T uc002rvx.2 + 1 371 c.13C>T c.(13-15)CAG>TAG p.Q5* EPCAM_uc002rvw.2_Intron NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 5 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 GGCGCCCCCGCAGGTCCTCGC 0.463 NA Lynch_syndrome 8 5 0 0 0 0 KLRAQ1 129285 broad.mit.edu 37 2 48707126 48707126 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:48707126C>T uc002rwm.2 + 13 1474 c.1289C>T c.(1288-1290)GCT>GTT p.A430V KLRAQ1_uc002rwj.2_Missense_Mutation_p.A430V|KLRAQ1_uc002rwl.2_Missense_Mutation_p.A384V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.A430V|KLRAQ1_uc010yok.1_Missense_Mutation_p.A430V NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 430 ovary(1) 1 GTTGGTGCTGCTCTGCATGGA 0.403 NA 59 28 0 0 0 0 RTN4 57142 broad.mit.edu 37 2 55253905 55253905 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:55253905C>G uc002rye.2 - 3 1628 c.1330G>C c.(1330-1332)GAT>CAT p.D444H RTN4_uc002ryd.2_Missense_Mutation_p.D238H|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 444 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 AAAGAAGTATCATCATTACTA 0.398 NA 5 240 0 0 0 0 AAK1 22848 broad.mit.edu 37 2 69732794 69732794 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:69732794C>T uc002sfp.2 - 16 2681 c.2176G>A c.(2176-2178)GAG>AAG p.E726K AAK1_uc010fdk.2_Missense_Mutation_p.E726K|AAK1_uc010yqm.1_Missense_Mutation_p.E727K NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 726 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 CCAAGCTTCTCGGGATGTTTG 0.488 NA 13 5 0 0 0 0 EXOC6B 23233 broad.mit.edu 37 2 72562091 72562091 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:72562091G>A uc010fep.2 - 20 2319 c.2181C>T c.(2179-2181)TTC>TTT p.F727F NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 727 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 TCAAGTCGATGAAGGCCAACT 0.458 NA 48 33 0 0 0 0 NAT8B 51471 broad.mit.edu 37 2 73928298 73928298 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:73928298G>C uc002sjk.1 - 2 170 c.135C>G c.(133-135)CTC>CTG p.L45L NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 45 Helical; (Potential). gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 CCCCAAGTAAGAGTATGAGGG 0.632 NA 39 15 0 0 0 0 POLR1A 25885 broad.mit.edu 37 2 86276328 86276328 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:86276328G>C uc002sqs.2 - 17 2809 c.2430C>G c.(2428-2430)GTC>GTG p.V810V POLR1A_uc010ytb.1_Silent_p.V176V NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 810 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GTTGCCTCTTGACATCTGCCT 0.542 NA 46 30 0 0 0 0 KIAA1310 55683 broad.mit.edu 37 2 97278577 97278577 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:97278577G>C uc002swn.3 - 7 1036 c.890C>G c.(889-891)TCT>TGT p.S297C KIAA1310_uc002swh.3_Missense_Mutation_p.S185C|KIAA1310_uc002swi.3_Missense_Mutation_p.S198C|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.S210C|KIAA1310_uc010fhz.2_Missense_Mutation_p.S91C|KIAA1310_uc002swl.3_Missense_Mutation_p.S198C|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.S91C|KIAA1310_uc002swp.1_Missense_Mutation_p.S198C|KIAA1310_uc002swq.1_Missense_Mutation_p.S69C|KIAA1310_uc010fhy.1_Missense_Mutation_p.S198C NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 297 0 GGACAGCTGAGATTGCCAGAA 0.552 NA 3 1 0 0 0 0 LMAN2L 81562 broad.mit.edu 37 2 97400156 97400156 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:97400156C>G uc002swu.2 - 3 450 c.414G>C c.(412-414)CGG>CGC p.R138R LMAN2L_uc002swv.2_Silent_p.R138R|LMAN2L_uc010yut.1_Missense_Mutation_p.G21A|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.G21A|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.G21A NM_030805 NP_110432 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like isoform 2 138 L-type lectin-like.|Lumenal (Potential). ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding 0 CTGGCTGCATCCGATCCTTTG 0.498 NA 53 49 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152507244 152507244 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:152507244G>A uc010fnx.2 - 53 7262 c.7071C>T c.(7069-7071)TTC>TTT p.F2357F NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2357 Nebulin 63. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGGGCTGGAGAACTTAGTTT 0.458 NA 135 108 0 0 0 0 PRPF40A 55660 broad.mit.edu 37 2 153573906 153573906 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:153573906C>T uc002tyi.2 - 1 16 c.3G>A c.(1-3)ATG>ATA p.M1I ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Missense_Mutation_p.M16I|PRPF40A_uc010zcd.1_Missense_Mutation_p.M16I|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Missense_Mutation_p.M1I NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 1 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TCCCCGGCCTCATCGTCGGGC 0.642 NA 14 11 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163250937 163250937 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:163250937C>T uc002uch.1 - 12 2884 c.2672G>A c.(2671-2673)AGA>AAA p.R891K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 891 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTTCCTTCTTCTTAGTTTACA 0.333 NA 30 19 0 0 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179365828 179365828 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:179365828C>T uc002umn.2 + 7 1098 c.700C>T c.(700-702)CGA>TGA p.R234* NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 234 cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) TACACTTCACCGACTCTCCCA 0.388 NA 57 29 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179416824 179416824 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:179416824G>A uc010zfg.1 - 284 83323 c.83099C>T c.(83098-83100)TCA>TTA p.S27700L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21395L|TTN_uc010zfi.1_Missense_Mutation_p.S21328L|TTN_uc010zfj.1_Missense_Mutation_p.S21203L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28627 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) GTTAGTTTGTGAAGTTTCCCG 0.423 NA 67 40 0 0 0 0 COL5A2 1290 broad.mit.edu 37 2 189932835 189932835 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:189932835G>C uc002uqk.2 - 21 1582 c.1307C>G c.(1306-1308)TCT>TGT p.S436C COL5A2_uc010frx.2_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 436 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGTACCTGGAGAGCCCTATTA 0.537 NA 34 29 0 0 0 0 C2orf62 375307 broad.mit.edu 37 2 219229377 219229377 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:219229377G>A uc002vhr.2 + 7 686 c.657G>A c.(655-657)CAG>CAA p.Q219Q C2orf62_uc002vhs.2_Intron NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 219 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACCATCCAGGTAGACCATC 0.582 NA 24 11 0 0 0 0 TRIP12 9320 broad.mit.edu 37 2 230643289 230643289 + Missense_Mutation SNP T T C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:230643289T>C uc002vpw.1 - 35 5108 c.4999A>G c.(4999-5001)ACC>GCC p.T1667A TRIP12_uc002vpx.1_Missense_Mutation_p.T1715A|TRIP12_uc002vpy.1_Missense_Mutation_p.T1397A NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1667 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATATACTTGGTCCCTTCTTGG 0.403 NA 30 39 0 0 0 0 ITM2C 81618 broad.mit.edu 37 2 231742261 231742261 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:231742261G>A uc002vqz.2 + 5 828 c.708G>A c.(706-708)CGG>CGA p.R236R ITM2C_uc002vra.2_Silent_p.R189R|ITM2C_uc002vrb.2_Silent_p.R199R|ITM2C_uc002vrc.2_Silent_p.R125R|ITM2C_uc002vrd.2_Silent_p.R88R NM_030926 NP_112188 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C isoform 1 236 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding 0 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GGGCAACGCGGAGGCGTGAGT 0.622 NA 23 26 0 0 0 0 EIF4E2 9470 broad.mit.edu 37 2 233421129 233421129 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr2:233421129G>C uc002vta.2 + 2 102 c.24G>C c.(22-24)TTG>TTC p.L8F EIF4E2_uc002vtb.1_Missense_Mutation_p.L8F|EIF4E2_uc002vsz.2_Missense_Mutation_p.L8F|EIF4E2_uc010zmi.1_Missense_Mutation_p.L8F NM_004846 NP_004837 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E 8 MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871). regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CATTCAGTTTGAAAGATGATG 0.413 NA 14 11 0 0 0 0 DEFB126 81623 broad.mit.edu 37 20 126135 126135 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:126135G>C uc002wcx.2 + 2 156 c.138G>C c.(136-138)AAG>AAC p.K46N NM_030931 NP_112193 Q9BYW3 DB126_HUMAN defensin, beta 126 preproprotein 46 defense response to bacterium extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) TGCATGTAAAGAATGGTTGGG 0.403 NA 27 55 0 0 0 0 ATRN 8455 broad.mit.edu 37 20 3553417 3553417 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:3553417C>T uc002wim.2 + 12 2001 c.1911C>T c.(1909-1911)CTC>CTT p.L637L ATRN_uc002wil.2_Silent_p.L637L NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 637 Extracellular (Potential).|Kelch 6. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 GTCTCCTCCTCAGCGACATCC 0.468 NA 40 110 0 0 0 0 POLR3F 10621 broad.mit.edu 37 20 18448199 18448199 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:18448199G>A uc002wqv.2 + 1 167 c.49G>A c.(49-51)GAA>AAA p.E17K C20orf12_uc002wqr.3_5'Flank|C20orf12_uc002wqs.3_5'Flank|C20orf12_uc002wqq.3_5'Flank|C20orf12_uc010zsa.1_5'Flank|C20orf12_uc002wqu.1_5'Flank|C20orf12_uc010gct.1_5'Flank|POLR3F_uc002wqw.2_RNA|POLR3F_uc002wqx.2_5'UTR NM_006466 NP_006457 Q9H1D9 RPC6_HUMAN DNA-directed RNA polymerase III 39 kDa 17 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GGATCCGGTCGAAATAGAAAA 0.622 NA 22 40 0 0 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20601168 20601168 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:20601168C>G uc002wrz.2 - 11 1483 c.1340G>C c.(1339-1341)AGA>ACA p.R447T RALGAPA2_uc010gcx.2_Missense_Mutation_p.R151T|RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 447 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 AACATCTTTTCTATCTGGCTC 0.393 NA 31 47 0 0 0 0 TP53INP2 58476 broad.mit.edu 37 20 33297096 33297096 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:33297096C>G uc002xau.1 + 4 516 c.181C>G c.(181-183)CCG>GCG p.P61A NM_021202 NP_067025 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 61 nucleus 0 gggccgccctccgcccgcgcc 0.517 NA 7 8 0 0 0 0 MMP24 10893 broad.mit.edu 37 20 33862274 33862274 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:33862274G>A uc002xbu.2 + 9 1803 c.1800G>A c.(1798-1800)GTG>GTA p.V600V EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 600 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) CGGGCTCCGTGAACGCCGTGG 0.627 NA 37 64 0 0 0 0 DLGAP4 22839 broad.mit.edu 37 20 35155433 35155433 + Nonstop_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:35155433G>C uc002xff.2 + 13 3404 c.2969G>C c.(2968-2970)TGA>TCA p.*990S DLGAP4_uc010zvp.1_Nonstop_Mutation_p.*990S|DLGAP4_uc002xfg.2_Nonstop_Mutation_p.*286S|DLGAP4_uc002xfh.2_Nonstop_Mutation_p.*454S|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Nonstop_Mutation_p.*286S|uc002xfk.3_Intron NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 990 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACCAGGCTCTGAGACCATGCA 0.502 NA 20 25 0 0 0 0 SFRS6 6431 broad.mit.edu 37 20 42088733 42088733 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:42088733G>C uc010zwg.1 + 4 612 c.442G>C c.(442-444)GAG>CAG p.E148Q SFRS6_uc002xki.2_Missense_Mutation_p.E19Q|SFRS6_uc002xkk.2_Missense_Mutation_p.E148Q NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 148 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACGAACAAATGAGGGTGTAAT 0.418 NA 23 51 0 0 0 0 JPH2 57158 broad.mit.edu 37 20 42815224 42815224 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:42815224G>C uc002xli.1 - 1 995 c.122C>G c.(121-123)TCC>TGC p.S41C JPH2_uc002xlj.2_Missense_Mutation_p.S41C NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 41 Gly-rich.|Cytoplasmic (Potential).|MORN 2. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AAAGTTCCAGGAGCCAGAGTA 0.617 NA 10 24 0 0 0 0 KCNK15 60598 broad.mit.edu 37 20 43374746 43374746 + Silent SNP G G A rs112757483 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:43374746G>A uc002xmr.2 + 1 259 c.195G>A c.(193-195)CTG>CTA p.L65L NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 65 integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) TGGAGCGCCTGGCGCTCCAGG 0.697 NA 6 11 0 0 0 0 PABPC1L 80336 broad.mit.edu 37 20 43566728 43566728 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:43566728G>A uc010ggv.1 + 13 1754 c.1672G>A c.(1672-1674)GAT>AAT p.D558N PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D112N|PABPC1L_uc002xmx.2_Missense_Mutation_p.D112N NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 558 PABC. nucleotide binding|RNA binding ovary(1) 1 CCTTATCCATGATGTCCACAC 0.572 NA 21 29 0 0 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44433831 44433831 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:44433831C>G uc002xpk.2 + 9 718 c.650C>G c.(649-651)TCT>TGT p.S217C NM_052951 NP_443183 Q9H147 TDIF1_HUMAN terminal deoxynucleotidyltransferase interacting 217 nucleus ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.0122) GTGTTGGGATCTCGAGCCAAC 0.463 NA 96 151 0 0 0 0 STAU1 6780 broad.mit.edu 37 20 47733708 47733708 + Silent SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:47733708C>G uc002xud.2 - 12 1998 c.1587G>C c.(1585-1587)CTG>CTC p.L529L STAU1_uc002xua.2_Silent_p.L448L|STAU1_uc002xub.2_Silent_p.L454L|STAU1_uc002xuc.2_Silent_p.L448L|STAU1_uc002xue.2_Silent_p.L448L|STAU1_uc002xuf.2_Silent_p.L454L|STAU1_uc002xug.2_Silent_p.L529L NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 529 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CATGGCTGATCAGAGGTGGCT 0.478 NA 28 32 0 0 0 0 ZNF217 7764 broad.mit.edu 37 20 52198855 52198855 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:52198855G>A uc002xwq.3 - 1 782 c.511C>T c.(511-513)CTT>TTT p.L171F ZNF217_uc010gij.1_Missense_Mutation_p.L163F NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 171 C2H2-type 3. negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TGATTTTTAAGAAACCAAGGC 0.463 NA 64 125 0 0 0 0 ZBP1 81030 broad.mit.edu 37 20 56188387 56188387 + Splice_Site SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:56188387C>G uc002xyo.2 - 5 784 c.503_splice c.e5-1 p.E168_splice ZBP1_uc010gjm.2_Intron|ZBP1_uc002xyp.2_Splice_Site_p.E93_splice|ZBP1_uc010zzn.1_Intron NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CCAGAATCTTCTGCAAAATAA 0.303 NA 51 74 0 0 0 0 CDH26 60437 broad.mit.edu 37 20 58571732 58571732 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:58571732G>A uc002ybe.2 + 13 2235 c.1935G>A c.(1933-1935)AAG>AAA p.K645K CDH26_uc002ybf.1_Silent_p.K225K|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Silent_p.K159K|CDH26_uc002ybh.2_Intron|CDH26_uc002ybi.2_Intron NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 645 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TTGAACCTAAGAGGCATGGAT 0.453 NA 75 125 0 0 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61907878 61907878 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:61907878G>C uc002yem.2 + 4 329 c.217G>C c.(217-219)GAG>CAG p.E73Q ARFGAP1_uc011aas.1_Missense_Mutation_p.E20Q|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.E73Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E73Q NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 73 Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) CATTGAGCTTGAGAAGATGAA 0.522 NA 22 31 0 0 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982264 61982264 + Missense_Mutation SNP A A C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:61982264A>C uc002yes.2 - 5 677 c.499T>G c.(499-501)TTC>GTC p.F167V CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.F96V|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 167 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) AAGGGGAAGAAGGTGACGTCG 0.607 NA 33 53 0 0 0 0 MYT1 4661 broad.mit.edu 37 20 62837064 62837064 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr20:62837064C>G uc002yii.2 + 6 672 c.308C>G c.(307-309)TCT>TGT p.S103C MYT1_uc002yih.2_Missense_Mutation_p.S103C|MYT1_uc002yij.2_5'Flank NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 103 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) AAGGACGCCTCTGTTTCGGAT 0.597 NA 6 13 0 0 0 0 RNF160 26046 broad.mit.edu 37 21 30359144 30359144 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:30359144G>C uc002ymr.2 - 2 305 c.292C>G c.(292-294)CAA>GAA p.Q98E RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 52 ligase activity|zinc ion binding 0 TCAGCTCCTTGAATAGCAGGA 0.428 NA 36 61 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32492803 32492803 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:32492803G>C uc002yow.1 - 29 5131 c.4659C>G c.(4657-4659)CTC>CTG p.L1553L TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.L1493L NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1553 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTTGCTTCTTGAGCTGTGCCA 0.597 NA 33 36 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32513499 32513499 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:32513499G>A uc002yow.1 - 23 4183 c.3711C>T c.(3709-3711)ATC>ATT p.I1237I TIAM1_uc011adk.1_Silent_p.I1237I|TIAM1_uc011adl.1_Silent_p.I1177I NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1237 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ACTCTTCATGGATTTTCTGCA 0.463 NA 28 38 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32513759 32513759 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:32513759G>A uc002yow.1 - 22 4011 c.3539C>T c.(3538-3540)TCC>TTC p.S1180F TIAM1_uc011adk.1_Missense_Mutation_p.S1180F|TIAM1_uc011adl.1_Missense_Mutation_p.S1120F NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1180 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTCCAGCGTGGATGAGTGCTG 0.577 NA 43 91 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32589957 32589957 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:32589957G>A uc002yow.1 - 10 2526 c.2054C>T c.(2053-2055)TCC>TTC p.S685F TIAM1_uc011adk.1_Missense_Mutation_p.S685F|TIAM1_uc011adl.1_Missense_Mutation_p.S685F|TIAM1_uc002yox.1_Missense_Mutation_p.S293F NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 685 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTTGCTCGCGGATCTGGACAT 0.542 NA 42 75 0 0 0 0 IFNGR2 3460 broad.mit.edu 37 21 34787221 34787221 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:34787221C>T uc002yrp.3 + 2 748 c.100C>T c.(100-102)CAG>TAG p.Q34* IFNGR2_uc002yrq.3_Nonsense_Mutation_p.Q53*|IFNGR2_uc010gma.2_5'UTR|IFNGR2_uc002yrr.3_5'UTR NM_005534 NP_005525 P38484 INGR2_HUMAN interferon gamma receptor 2 precursor 34 Extracellular (Potential).|Fibronectin type-III 1. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity 0 Interferon gamma-1b(DB00033) GCCCGCTCCTCAGCACCCGAA 0.393 NA 15 16 0 0 0 0 UMODL1 89766 broad.mit.edu 37 21 43508453 43508453 + Nonsense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:43508453C>G uc002zaf.1 + 5 653 c.653C>G c.(652-654)TCA>TGA p.S218* UMODL1_uc002zad.1_Nonsense_Mutation_p.S146*|UMODL1_uc002zae.1_Nonsense_Mutation_p.S146*|UMODL1_uc002zag.1_Nonsense_Mutation_p.S218*|UMODL1_uc010gow.1_Nonsense_Mutation_p.S10*|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.S10* NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 218 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CACCTGCACTCAGCCCCTGGG 0.602 NA 21 7 0 0 0 0 UBASH3A 53347 broad.mit.edu 37 21 43852254 43852254 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:43852254G>A uc002zbe.2 + 9 1249 c.1213G>A c.(1213-1215)GAG>AAG p.E405K UBASH3A_uc002zbf.2_Missense_Mutation_p.E367K|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.E367K NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 405 Phosphatase-like. cytosol|nucleus ovary(3) 3 TCGCCACGGGGAGAGAGTGGA 0.567 NA 5 7 0 0 0 0 C21orf70 85395 broad.mit.edu 37 21 46387037 46387037 + Silent SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr21:46387037C>A uc002zgl.2 + 4 459 c.441C>A c.(439-441)CTC>CTA p.L147L C21orf70_uc002zgm.2_Silent_p.L132L NM_058190 NP_478070 Q9NSI2 CU070_HUMAN hypothetical protein LOC85395 147 0 Colorectal(79;0.248) TGCACCCTCTCAGGGATGCCC 0.677 NA 10 29 0.00136819 0.00140491 1 0 RGL4 266747 broad.mit.edu 37 22 24034855 24034855 + Splice_Site SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:24034855G>A uc002zxn.2 + 3 1544 c.374_splice c.e3-1 p.D125_splice LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Splice_Site_p.D125_splice|RGL4_uc002zxp.1_Splice_Site|RGL4_uc002zxq.2_Splice_Site NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 TCCTTTTCCAGATCCTGCTCC 0.547 NA 20 35 0 0 0 0 PIWIL3 440822 broad.mit.edu 37 22 25150055 25150055 + Silent SNP T T G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:25150055T>G uc003abd.1 - 8 1320 c.903A>C c.(901-903)ACA>ACC p.T301T PIWIL3_uc011ajx.1_Silent_p.T192T|PIWIL3_uc011ajy.1_Silent_p.T192T|PIWIL3_uc010gut.1_Silent_p.T301T NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 301 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 CCTGGGCAGATGTTCTCTTTA 0.388 NA 36 73 0 0 0 0 CRYBA4 1413 broad.mit.edu 37 22 27026412 27026412 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:27026412G>A uc003acz.3 + 6 587 c.552G>A c.(550-552)CCG>CCA p.P184P NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 184 Beta/gamma crystallin 'Greek key' 4. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 CTCATGCCCCGACCTTCCAGG 0.597 NA 27 28 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36684376 36684376 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:36684376G>A uc003apg.2 - 34 5085 c.4854C>T c.(4852-4854)GAC>GAT p.D1618D NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1618 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 GGTCCTTCAGGTCCATCTCCA 0.642 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 17 61 0 0 0 0 EIF3D 8664 broad.mit.edu 37 22 36912642 36912642 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:36912642C>T uc003apq.2 - 12 1205 c.1089G>A c.(1087-1089)TGG>TGA p.W363* EIF3D_uc011amr.1_Nonsense_Mutation_p.W190*|EIF3D_uc003apr.2_Nonsense_Mutation_p.W363*|EIF3D_uc011ams.1_Nonsense_Mutation_p.W266*|EIF3D_uc011amt.1_Nonsense_Mutation_p.W314* NM_003753 NP_003744 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3 363 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity pancreas(1) 1 CTCCAAGCTTCCACCTGCGGT 0.512 NA 95 172 0 0 0 0 ELFN2 114794 broad.mit.edu 37 22 37769912 37769912 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:37769912G>C uc003asq.3 - 3 2449 c.1663C>G c.(1663-1665)CTC>GTC p.L555V NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 555 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) TCCAGCTTGAGAGCATCGATG 0.627 NA 30 28 0 0 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41253202 41253202 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:41253202C>A uc003azh.2 + 1 109 c.17C>A c.(16-18)TCA>TAA p.S6* XPNPEP3_uc011aox.1_Nonsense_Mutation_p.S6*|XPNPEP3_uc003azi.2_5'UTR|ST13_uc003aze.2_5'Flank|ST13_uc011aow.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA NM_022098 NP_071381 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, 6 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity 0 TGGCTGCTCTCAGCCCCCAAG 0.632 NA 8 4 0.000442599 0.000458092 1 0 TNFRSF13C 115650 broad.mit.edu 37 22 42322147 42322147 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:42322147G>T uc003bbl.2 - 2 369 c.325C>A c.(325-327)CGC>AGC p.R109S WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.R110S NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 109 Cytoplasmic (Potential). integral to membrane receptor activity 0 GACGCGCCGCGAAGCCGCCGC 0.602 NA 10 12 6.4e-05 6.68e-05 1 0 MPPED1 758 broad.mit.edu 37 22 43831044 43831044 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:43831044C>G uc011apv.1 + 3 538 c.315C>G c.(313-315)ATC>ATG p.I105M MPPED1_uc011apw.1_Translation_Start_Site|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.I105M|MPPED1_uc011apz.1_Missense_Mutation_p.I138M NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 105 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) CGGACCCCATCCAGATGCCGT 0.642 NA 49 36 0 0 0 0 PANX2 56666 broad.mit.edu 37 22 50616191 50616191 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr22:50616191C>G uc003bjn.3 + 2 1050 c.1050C>G c.(1048-1050)TTC>TTG p.F350L PANX2_uc003bjp.3_Missense_Mutation_p.F216L|PANX2_uc003bjo.3_Missense_Mutation_p.F350L NM_052839 NP_443071 Q96RD6 PANX2_HUMAN pannexin 2 isoform 1 350 Cytoplasmic (Potential). protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1) 1 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) TGGCCATGTTCTGCAACGAGA 0.587 NA 30 16 0 0 0 0 CRELD1 78987 broad.mit.edu 37 3 9984547 9984547 + Missense_Mutation SNP T T C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:9984547T>C uc003bug.2 + 8 902 c.784T>C c.(784-786)TGC>CGC p.C262R CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.C262R|CRELD1_uc003buh.2_Missense_Mutation_p.C262R|CRELD1_uc003bui.2_Missense_Mutation_p.C262R|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 262 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 TGACCAATTCTGCGTGAACAC 0.448 NA 32 47 0 0 0 0 IRAK2 3656 broad.mit.edu 37 3 10264363 10264363 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:10264363C>T uc003bve.1 + 9 1133 c.1057C>T c.(1057-1059)CAC>TAC p.H353Y NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 353 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 CAAACTTGCTCACCCAATGGC 0.473 NA 68 111 0 0 0 0 TSEN2 80746 broad.mit.edu 37 3 12545233 12545233 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:12545233G>A uc003bxc.2 + 5 1168 c.781G>A c.(781-783)GAG>AAG p.E261K TSEN2_uc003bwy.2_Missense_Mutation_p.E261K|TSEN2_uc003bwz.2_Missense_Mutation_p.E202K|TSEN2_uc003bxa.2_Missense_Mutation_p.E261K|TSEN2_uc011auq.1_Missense_Mutation_p.E261K|TSEN2_uc003bxb.2_Missense_Mutation_p.E261K|TSEN2_uc011aur.1_Missense_Mutation_p.E170K NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 261 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 CGTGCTGGTCGAGGAAGCGGA 0.567 NA 14 28 0 0 0 0 NR1D2 9975 broad.mit.edu 37 3 23996052 23996052 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:23996052C>G uc003ccs.2 + 2 360 c.41C>G c.(40-42)TCT>TGT p.S14C NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 14 Poly-Ser. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 TATATCAGTTCTTCCAGCTCA 0.398 NA 57 94 0 0 0 0 NEK10 152110 broad.mit.edu 37 3 27244013 27244013 + Missense_Mutation SNP T T G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:27244013T>G uc010hfk.2 - 3 291 c.62A>C c.(61-63)AAG>ACG p.K21T NEK10_uc003cds.1_Missense_Mutation_p.K106T|NEK10_uc010hfj.2_Missense_Mutation_p.K21T Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 709 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GACATCAGCCTTCTCCCCATA 0.478 NA 27 35 0 0 0 0 ZNF860 344787 broad.mit.edu 37 3 32031248 32031248 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:32031248G>C uc011axg.1 + 2 1226 c.677G>C c.(676-678)AGA>ACA p.R226T NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTACACATAAGAGAAAAATCT 0.308 NA 29 83 0 0 0 0 CNOT10 25904 broad.mit.edu 37 3 32776347 32776347 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:32776347C>A uc003cfc.1 + 12 1648 c.1393C>A c.(1393-1395)CTC>ATC p.L465I CNOT10_uc011axi.1_Missense_Mutation_p.L237I|CNOT10_uc003cfd.1_Missense_Mutation_p.L464I|CNOT10_uc003cfe.1_Missense_Mutation_p.L465I|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.L525I|CNOT10_uc010hfw.1_Missense_Mutation_p.L160I NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 465 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding central_nervous_system(1)|skin(1) 2 AGCCATATGTCTCAGAAATGC 0.408 NA 93 167 1.67e-42 1.87e-42 1 0 TRANK1 9881 broad.mit.edu 37 3 36884182 36884182 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:36884182G>A uc003cgj.2 - 8 3731 c.3429C>T c.(3427-3429)TTC>TTT p.F1143F NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1693 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 AGGTCTTAACGAACATGCTAT 0.408 NA 10 28 0 0 0 0 TMEM42 131616 broad.mit.edu 37 3 44903512 44903512 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:44903512G>C uc003cnz.2 + 1 105 c.96G>C c.(94-96)GCG>GCC p.A32A NM_144638 NP_653239 Q69YG0 TMM42_HUMAN transmembrane protein 42 32 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576) AGGCGGGTGCGATGCGGCGCC 0.741 NA 4 3 0 0 0 0 PLXNB1 5364 broad.mit.edu 37 3 48451107 48451107 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:48451107G>C uc003csw.2 - 33 6081 c.5811C>G c.(5809-5811)TTC>TTG p.F1937L PLXNB1_uc003cst.2_Missense_Mutation_p.F387L|PLXNB1_uc003csu.2_Missense_Mutation_p.F1754L|PLXNB1_uc003csx.2_Missense_Mutation_p.F1937L NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1937 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAATCACCTGGAACAGGTCAT 0.607 NA 20 48 0 0 0 0 CELSR3 1951 broad.mit.edu 37 3 48699002 48699002 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:48699002C>G uc003cul.2 - 1 1347 c.1066G>C c.(1066-1068)GAG>CAG p.E356Q CELSR3_uc003cuf.1_Missense_Mutation_p.E426Q NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 356 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGCCCGGCCTCGCCGGCGTCC 0.672 NA 24 45 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49152909 49152909 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:49152909G>C uc003cwd.1 - 11 1708 c.1547C>G c.(1546-1548)TCC>TGC p.S516C USP19_uc003cwa.2_Missense_Mutation_p.S324C|USP19_uc003cvz.3_Missense_Mutation_p.S619C|USP19_uc011bcg.1_Missense_Mutation_p.S607C|USP19_uc003cwb.2_Missense_Mutation_p.S602C|USP19_uc003cwc.1_Missense_Mutation_p.S274C|USP19_uc011bch.1_Missense_Mutation_p.S617C|USP19_uc011bci.1_Missense_Mutation_p.S604C NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 516 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCGAGTGTTGGACAGAGACTG 0.483 NA 49 56 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49155409 49155409 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:49155409G>A uc003cwd.1 - 3 430 c.269C>T c.(268-270)TCC>TTC p.S90F USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.S90F|USP19_uc011bcg.1_Missense_Mutation_p.S90F|USP19_uc003cwb.2_Missense_Mutation_p.S90F|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.S90F|USP19_uc011bci.1_Missense_Mutation_p.S90F NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 90 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TTGAGGAGTGGATGCTGACCC 0.338 NA 63 43 0 0 0 0 CCDC36 339834 broad.mit.edu 37 3 49278740 49278740 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:49278740C>T uc003cwk.2 + 6 700 c.313C>T c.(313-315)CCT>TCT p.P105S CCDC36_uc003cwl.3_Missense_Mutation_p.P105S|CCDC36_uc011bck.1_Missense_Mutation_p.P105S|CCDC36_uc010hkt.2_RNA NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 105 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TTTATTTCCTCCTCCTTTGTC 0.383 NA 15 33 0 0 0 0 MST1R 4486 broad.mit.edu 37 3 49929191 49929191 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:49929191G>A uc003cxy.3 - 15 3616 c.3352C>T c.(3352-3354)CGC>TGC p.R1118C MST1R_uc011bdc.1_5'UTR NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1118 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCCCACTTACGACTTAGTGAC 0.527 NA 49 86 0 0 0 0 PDZRN3 23024 broad.mit.edu 37 3 73651507 73651507 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:73651507C>G uc003dpl.1 - 3 1012 c.916G>C c.(916-918)GAG>CAG p.E306Q NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 306 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCACATACCTCAATAATCCTG 0.478 NA 79 133 0 0 0 0 ROBO1 6091 broad.mit.edu 37 3 78737857 78737857 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:78737857G>T uc003dqe.2 - 9 1319 c.1111C>A c.(1111-1113)CAG>AAG p.Q371K ROBO1_uc003dqb.2_Missense_Mutation_p.Q332K|ROBO1_uc003dqc.2_Missense_Mutation_p.Q335K|ROBO1_uc003dqd.2_Missense_Mutation_p.Q335K|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.Q50K NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 371 Extracellular (Potential).|Ig-like C2-type 4. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCTTCACACTGAAAAGTTACA 0.413 NA 7 8 0.00198382 0.00203384 1 0 PROS1 5627 broad.mit.edu 37 3 93646189 93646189 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:93646189C>G uc003drb.3 - 2 480 c.139G>C c.(139-141)GAA>CAA p.E47Q PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 47 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTGGTTTCTTCAAGTAAAGAA 0.388 NA 38 53 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 97439174 97439174 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:97439174G>C uc010how.1 + 15 2897 c.2854G>C c.(2854-2856)GAT>CAT p.D952H EPHA6_uc003drt.2_Missense_Mutation_p.D344H|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 857 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTCAGCAAGCGATGCATGGAG 0.463 NA 38 53 0 0 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724488 113724488 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:113724488C>G uc003eax.2 - 10 1882 c.1735G>C c.(1735-1737)GAG>CAG p.E579Q KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.E557Q|KIAA1407_uc011bip.1_Missense_Mutation_p.E566Q NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 579 Potential. ovary(2) 2 TTCTTCAGCTCGAGAATTGTT 0.507 NA 48 96 0 0 0 0 C3orf30 152405 broad.mit.edu 37 3 118865466 118865466 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:118865466G>T uc003ecb.1 + 1 470 c.430G>T c.(430-432)GAA>TAA p.E144* IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Nonsense_Mutation_p.E144* NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 144 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) AAGAACTGCTGAACAGACTGA 0.488 NA 19 37 1.45e-14 1.58e-14 1 0 POLQ 10721 broad.mit.edu 37 3 121258384 121258384 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:121258384G>C uc003eee.3 - 4 656 c.527C>G c.(526-528)TCT>TGT p.S176C NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 176 Helicase ATP-binding. 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) CCTTGATGGAGAGGTGCTGCC 0.393 NA DNA_polymerases_(catalytic_subunits) 22 48 0 0 0 0 CHCHD6 84303 broad.mit.edu 37 3 126451938 126451938 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:126451938C>G uc003ejf.1 + 4 322 c.284C>G c.(283-285)GCT>GGT p.A95G CHCHD6_uc010hsj.1_Missense_Mutation_p.A95G NM_032343 NP_115719 Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain 95 0 CAGGAGCATGCTGCTATCCAG 0.552 NA 8 57 0 0 0 0 COPG 22820 broad.mit.edu 37 3 128979529 128979529 + Nonsense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:128979529C>G uc003els.2 + 12 1107 c.1007C>G c.(1006-1008)TCA>TGA p.S336* COPG_uc010htb.2_Nonsense_Mutation_p.S242* NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 336 HEAT 3. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 GTCACAGATTCAAACCGCAGC 0.552 NA 33 43 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130293197 130293197 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:130293197G>A uc010htl.2 + 7 3406 c.3375G>A c.(3373-3375)CTG>CTA p.L1125L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1125 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CGGAAGCCCTGAGACACAGAG 0.567 NA 27 52 0 0 0 0 ACAD11 84129 broad.mit.edu 37 3 132294631 132294631 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:132294631C>G uc003eov.3 - 17 2366 c.1986G>C c.(1984-1986)AAG>AAC p.K662N NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 662 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 CATACAACTTCTTCTTGAAAG 0.438 NA 23 54 0 0 0 0 UBA5 79876 broad.mit.edu 37 3 132394720 132394720 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:132394720C>G uc003epa.3 + 11 1326 c.1084C>G c.(1084-1086)CCA>GCA p.P362A NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.P306A|UBA5_uc010htt.2_Intron|UBA5_uc003epb.3_Missense_Mutation_p.P306A|UBA5_uc003epc.2_5'Flank NM_024818 NP_079094 Q9GZZ9 UBA5_HUMAN ubiquitin-activating enzyme 5 isoform 1 362 protein ufmylation aggresome|cytoplasm|cytoplasm|nucleus ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity kidney(1) 1 AGGTCCAGTTCCAGACTTACC 0.308 NA 24 33 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132423059 132423059 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:132423059C>G uc003epe.1 - 9 1584 c.1507G>C c.(1507-1509)GAG>CAG p.E503Q NPHP3_uc003epf.1_Missense_Mutation_p.E258Q NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 503 TPR 1. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 AATCCCAACTCATGGGCTGAA 0.363 NA 95 106 0 0 0 0 KY 339855 broad.mit.edu 37 3 134327552 134327552 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:134327552C>G uc010hty.2 - 10 1091 c.1029G>C c.(1027-1029)AAG>AAC p.K343N KY_uc011blw.1_Intron|KY_uc011blx.1_Missense_Mutation_p.K322N|KY_uc003eqr.1_Missense_Mutation_p.K109N NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 343 cytoskeleton|Z disc peptidase activity ovary(2) 2 AGAATTCACTCTTGTGATACA 0.507 NA 56 75 0 0 0 0 PLS1 5357 broad.mit.edu 37 3 142394998 142394998 + Splice_Site SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:142394998G>C uc010huv.2 + 5 524 c.365_splice c.e5-1 p.E122_splice PLS1_uc003euz.2_Splice_Site_p.E122_splice|PLS1_uc003eva.2_Splice_Site_p.E122_splice NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 TCTCCTTTCAGAGGAAGAAAA 0.353 NA 20 50 0 0 0 0 P2RY13 53829 broad.mit.edu 37 3 151046746 151046746 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:151046746G>C uc003eyv.2 - 2 119 c.98C>G c.(97-99)TCT>TGT p.S33C MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 33 Extracellular (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) GCACCGCTCAGATCTGTTGAA 0.458 NA 62 80 0 0 0 0 BCHE 590 broad.mit.edu 37 3 165548094 165548094 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:165548094G>A uc003fem.3 - 2 888 c.728C>T c.(727-729)TCA>TTA p.S243L BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 243 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GGTGAACAATGAATGGCTTCC 0.438 NA 35 131 0 0 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540507 169540507 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:169540507G>C uc003fgb.2 + 1 798 c.798G>C c.(796-798)GGG>GGC p.G266G NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 266 LRR 11. 0 GGCTGAGCGGGAACCGCCTGG 0.612 NA 26 19 0 0 0 0 FNDC3B 64778 broad.mit.edu 37 3 172096154 172096154 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:172096154G>A uc003fhy.2 + 24 3275 c.3103G>A c.(3103-3105)GAG>AAG p.E1035K FNDC3B_uc003fhz.3_Missense_Mutation_p.E1035K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1035 Fibronectin type-III 8. 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) GGCAGCAAGCGAGGCTGGAGA 0.488 NA 50 42 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 46 44 0 0 0 0 BCL6 604 broad.mit.edu 37 3 187447411 187447411 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:187447411G>C uc003frp.3 - 5 1239 c.782C>G c.(781-783)CCC>CGC p.P261R BCL6_uc011bsf.1_Missense_Mutation_p.P261R|BCL6_uc010hza.2_Missense_Mutation_p.P159R|BCL6_uc003frq.1_Missense_Mutation_p.P261R NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 261 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGTTTCCTTGGGTGAATAGAT 0.572 NA T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 28 62 0 0 0 0 PPP1R2 5504 broad.mit.edu 37 3 195256617 195256617 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr3:195256617C>A uc003fup.2 - 2 584 c.208G>T c.(208-210)GAA>TAA p.E70* PPP1R2_uc003fuq.3_Nonsense_Mutation_p.E70* NM_006241 NP_006232 P41236 IPP2_HUMAN protein phosphatase 1, regulatory subunit 2 70 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity urinary_tract(1) 1 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) GTGCTTGGTTCATCTATTTTC 0.373 NA 60 52 2.73e-28 3.05e-28 1 0 FAM193A 8603 broad.mit.edu 37 4 2696731 2696731 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:2696731G>T uc010icl.2 + 15 2629 c.2278G>T c.(2278-2280)GAT>TAT p.D760Y FAM193A_uc010ick.2_Missense_Mutation_p.D960Y|FAM193A_uc003gfd.2_Missense_Mutation_p.D760Y|FAM193A_uc011bvm.1_Missense_Mutation_p.D782Y|FAM193A_uc011bvn.1_Missense_Mutation_p.D760Y|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D614Y NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 760 ovary(3) 3 ACAGCAGGATGATGGGGACGA 0.597 NA 4 5 2.56e-06 2.69e-06 1 0 LPHN3 23284 broad.mit.edu 37 4 62935975 62935975 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:62935975C>T uc010ihh.2 + 23 3932 c.3759C>T c.(3757-3759)ACC>ACT p.T1253T LPHN3_uc003hcq.3_3'UTR|LPHN3_uc003hct.2_Silent_p.T637T NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1231 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATAACGAGACCGCCCTAGAGA 0.458 NA 5 5 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66467879 66467879 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:66467879G>C uc003hcy.2 - 3 583 c.390C>G c.(388-390)CTC>CTG p.L130L EPHA5_uc003hcx.2_Silent_p.L61L|EPHA5_uc003hcz.2_Silent_p.L130L|EPHA5_uc011cah.1_Silent_p.L130L|EPHA5_uc011cai.1_Silent_p.L130L|EPHA5_uc003hda.2_Silent_p.L130L NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 130 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GGGTAAATTTGAGTTCTATGA 0.428 NA TSP Lung(17;0.13) 52 29 0 0 0 0 C4orf40 401137 broad.mit.edu 37 4 71024438 71024438 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:71024438G>C uc003hfa.3 + 4 542 c.469G>C c.(469-471)GAG>CAG p.E157Q C4orf40_uc003hfb.3_Missense_Mutation_p.E157Q NM_214711 NP_999876 Q6MZM9 CD040_HUMAN hypothetical protein LOC401137 precursor 157 Ala-rich. extracellular region 0 TGTTGCAGCTGAGCCTGCTGC 0.642 NA 43 11 0 0 0 0 ADH1C 126 broad.mit.edu 37 4 100261734 100261734 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:100261734C>T uc003huu.2 - 9 1047 c.962G>A c.(961-963)GGA>GAA p.G321E NM_000669 NP_000660 P00326 ADH1G_HUMAN class I alcohol dehydrogenase, gamma subunit 321 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTACATACCTCCAAAAATAGC 0.413 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 92 72 0 0 0 0 C4orf31 79625 broad.mit.edu 37 4 121957931 121957931 + Nonsense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:121957931G>A uc003idq.1 - 4 1722 c.1195C>T c.(1195-1197)CAG>TAG p.Q399* NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 399 0 TCCACATTCTGAGACAGAAGA 0.418 NA 46 41 0 0 0 0 NUDT6 11162 broad.mit.edu 37 4 123814217 123814217 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:123814217G>A uc003iew.2 - 5 749 c.717C>T c.(715-717)TGC>TGT p.C239C FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.C70C NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 239 Nudix hydrolase. mitochondrion|nucleus growth factor activity|hydrolase activity 0 ATTCTTCCTGGCAAAAATTTA 0.443 NA 4 81 0 0 0 0 GAB1 2549 broad.mit.edu 37 4 144354740 144354740 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:144354740C>T uc003ije.2 + 3 823 c.464C>T c.(463-465)TCT>TTT p.S155F GAB1_uc003ijd.2_Missense_Mutation_p.S155F|GAB1_uc011chq.1_Missense_Mutation_p.S52F NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 155 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) GATTCATCCTCTGCTACTCTA 0.483 NA 46 28 0 0 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148867785 148867785 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:148867785G>A uc003ilf.2 + 15 1321 c.1321G>A c.(1321-1323)GAG>AAG p.E441K ARHGAP10_uc003ilg.2_Missense_Mutation_p.E90K|ARHGAP10_uc003ilh.2_Missense_Mutation_p.E22K NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 441 Rho-GAP. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) AACATGCAATGAGGTGGACCT 0.383 NA 12 5 0 0 0 0 MND1 84057 broad.mit.edu 37 4 154315459 154315459 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:154315459G>A uc003ink.1 + 5 411 c.322G>A c.(322-324)GAG>AAG p.E108K NM_032117 NP_115493 Q9BWT6 MND1_HUMAN GAJ protein 108 Potential. DNA recombination|meiosis nucleus DNA binding 0 all_hematologic(180;0.093) GAAAAGCATTGAGAAAGCTAA 0.353 NA 14 13 0 0 0 0 MND1 84057 broad.mit.edu 37 4 154318395 154318395 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:154318395G>C uc003ink.1 + 6 465 c.376G>C c.(376-378)GAG>CAG p.E126Q NM_032117 NP_115493 Q9BWT6 MND1_HUMAN GAJ protein 126 Potential. DNA recombination|meiosis nucleus DNA binding 0 all_hematologic(180;0.093) GCTAGCAAAAGAGCTTTCTTC 0.358 NA 6 3 0 0 0 0 LRAT 9227 broad.mit.edu 37 4 155665794 155665794 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:155665794G>T uc003iom.1 + 1 643 c.316G>T c.(316-318)GCC>TCC p.A106S uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.A106S NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 106 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) TGTCAAAGTGGCCAGCATCCG 0.572 NA 9 4 5.49e-09 5.85e-09 1 0 NAF1 92345 broad.mit.edu 37 4 164050069 164050069 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:164050069G>A uc003iqj.2 - 8 1659 c.1465C>T c.(1465-1467)CAT>TAT p.H489Y NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 489 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) GGTCCAAAATGAGAATTACTA 0.264 NA 17 12 0 0 0 0 NEK1 4750 broad.mit.edu 37 4 170428916 170428916 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:170428916C>G uc003isb.1 - 20 2269 c.1777G>C c.(1777-1779)GAA>CAA p.E593Q NEK1_uc003isc.1_Missense_Mutation_p.E549Q|NEK1_uc003isd.1_Missense_Mutation_p.E621Q|NEK1_uc003ise.1_Missense_Mutation_p.E577Q|NEK1_uc003isf.1_Missense_Mutation_p.E524Q NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 593 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCACTTCCTTCTTGTCCTTCA 0.358 NA 30 22 0 0 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186271 5186271 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:5186271G>C uc003jdl.2 + 5 1008 c.870G>C c.(868-870)CTG>CTC p.L290L ADAMTS16_uc003jdk.1_Silent_p.L290L|ADAMTS16_uc003jdj.1_Silent_p.L290L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 290 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATGAAGAACTGAACGTGGAGA 0.473 NA 38 51 0 0 0 0 BASP1 10409 broad.mit.edu 37 5 17275436 17275436 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:17275436G>A uc003jfx.2 + 2 290 c.111G>A c.(109-111)CCG>CCA p.P37P NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 37 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 AGGGGACCCCGAAGGAGAGTG 0.647 NA 11 12 0 0 0 0 NPR3 4883 broad.mit.edu 37 5 32712159 32712159 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:32712159C>T uc003jhv.2 + 1 495 c.277C>T c.(277-279)CTG>TTG p.L93L NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Silent_p.L93L NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 93 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GAGGCGGCTTCTGCCGCCGGG 0.677 NA 17 41 0 0 0 0 ZNF131 7690 broad.mit.edu 37 5 43161724 43161724 + Missense_Mutation SNP A A G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:43161724A>G uc011cpw.1 + 5 781 c.745A>G c.(745-747)ATT>GTT p.I249V ZNF131_uc010ivl.1_Intron|ZNF131_uc003jnj.3_Intron|ZNF131_uc003jnk.2_Intron|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 249 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGGTATTGAAATTGTGGAACT 0.403 NA 23 49 0 0 0 0 PDE8B 8622 broad.mit.edu 37 5 76715710 76715710 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:76715710G>A uc003kfa.2 + 19 2293 c.2248G>A c.(2248-2250)GAG>AAG p.E750K PDE8B_uc003kfb.2_Missense_Mutation_p.E730K|PDE8B_uc003kfc.2_Missense_Mutation_p.E695K|PDE8B_uc003kfd.2_Missense_Mutation_p.E703K|PDE8B_uc003kfe.2_Missense_Mutation_p.E653K NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 750 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) AATGGCAGCTGAGGTGAGTAC 0.448 NA 17 33 0 0 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95087996 95087996 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:95087996G>A uc003klm.2 + 5 1161 c.624G>A c.(622-624)AAG>AAA p.K208K RHOBTB3_uc003klk.1_Silent_p.K2K NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 208 retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) AAAAAATGAAGAAAAGAAAAA 0.313 NA 46 96 0 0 0 0 PJA2 9867 broad.mit.edu 37 5 108691708 108691708 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:108691708C>T uc003kos.3 - 7 1892 c.1672G>A c.(1672-1674)GAT>AAT p.D558N NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 558 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) CCTAGTCCATCTGCAAAGCCA 0.383 NA 39 78 0 0 0 0 APC 324 broad.mit.edu 37 5 112137026 112137026 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:112137026G>C uc010jby.2 + 8 1160 c.780G>C c.(778-780)CAG>CAC p.Q260H APC_uc011cvt.1_Missense_Mutation_p.Q242H|APC_uc003kpz.3_Missense_Mutation_p.Q260H|APC_uc003kpy.3_Missense_Mutation_p.Q260H|APC_uc010jbz.2_5'UTR NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 260 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CTGAGCGGCAGAATGAAGGTC 0.358 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 15 35 0 0 0 0 FAM170A 340069 broad.mit.edu 37 5 118968548 118968548 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:118968548C>G uc003ksm.2 + 2 386 c.176C>G c.(175-177)TCC>TGC p.S59C FAM170A_uc003ksl.2_Missense_Mutation_p.S59C|FAM170A_uc003ksn.2_Missense_Mutation_p.S59C|FAM170A_uc003kso.2_Intron NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 59 intracellular zinc ion binding skin(1) 1 GAATACTGCTCCTGCGTTTCT 0.547 NA 33 61 0 0 0 0 ALDH7A1 501 broad.mit.edu 37 5 125918566 125918566 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:125918566C>T uc003ktx.2 - 5 686 c.494G>A c.(493-495)GGA>GAA p.G165E ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.G192E|ALDH7A1_uc003ktz.2_Missense_Mutation_p.G192E NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 165 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) GATAGGTCCTCCAATCATCCT 0.388 NA 30 27 0 0 0 0 AFF4 27125 broad.mit.edu 37 5 132232368 132232368 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:132232368C>G uc003kyd.2 - 11 2362 c.1954G>C c.(1954-1956)GAT>CAT p.D652H AFF4_uc011cxk.1_Missense_Mutation_p.D330H|AFF4_uc003kye.1_Missense_Mutation_p.D652H NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 652 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCATCTGAATCTGAGGATGAG 0.438 NA 38 73 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201501 140201501 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140201501C>T uc003lhl.2 + 1 141 c.141C>T c.(139-141)ATC>ATT p.I47I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.I47I|PCDHA5_uc003lhj.1_Silent_p.I47I NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 47 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGCCGCATCGCGCAGGACC 0.647 NA 46 56 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201580 140201580 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140201580C>T uc003lhl.2 + 1 220 c.220C>T c.(220-222)CTG>TTG p.L74L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.L74L|PCDHA5_uc003lhj.1_Silent_p.L74L NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 74 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding p.Q49fs*50(1) ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGGACCTTCTGGAGGTAAA 0.647 NA 67 130 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209500 140209500 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140209500G>A uc003lho.2 + 1 1851 c.1824G>A c.(1822-1824)TCG>TCA p.S608S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S608S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 608 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGCTTTCGTATGAGCTGC 0.657 NA 21 46 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140532108 140532108 + Nonsense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140532108C>G uc003lir.2 + 1 2270 c.2270C>G c.(2269-2271)TCA>TGA p.S757* PCDHB6_uc011dah.1_Nonsense_Mutation_p.S621* NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 757 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGGGAGGCTCAGAAACAAAT 0.562 NA 67 101 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710402 140710402 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140710402G>A uc003lji.1 + 1 151 c.151G>A c.(151-153)GAC>AAC p.D51N PCDHGA1_uc011dan.1_Missense_Mutation_p.D51N NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 51 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCGCCAAGGACCTAGGGCT 0.557 NA 31 89 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711728 140711728 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140711728G>A uc003lji.1 + 1 1477 c.1477G>A c.(1477-1479)GAG>AAG p.E493K PCDHGA1_uc011dan.1_Missense_Mutation_p.E493K NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 493 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCTAATAGAGGACACTAT 0.537 NA 53 135 0 0 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782700 140782700 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140782700G>T uc003lkh.1 + 1 181 c.181G>T c.(181-183)GAG>TAG p.E61* 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_uc011dax.1_Nonsense_Mutation_p.E61* NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 61 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGGCGGAGCGCCGAGT 0.607 NA 53 86 7.42e-26 8.25e-26 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140812070 140812070 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:140812070G>A uc003lkt.1 + 1 1913 c.1744G>A c.(1744-1746)GCA>ACA p.A582T 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_uc011dba.1_Missense_Mutation_p.A582T NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 582 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCGCTCCGCAGAGCCCGG 0.682 NA 58 105 0 0 0 0 ANXA6 309 broad.mit.edu 37 5 150512081 150512081 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:150512081C>T uc003ltl.1 - 10 844 c.692G>A c.(691-693)CGA>CAA p.R231Q ANXA6_uc011dcp.1_Missense_Mutation_p.R199Q|ANXA6_uc003ltm.1_Missense_Mutation_p.R231Q|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 231 Annexin 3. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding p.R231Q(1) 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCTCCCCTCGGATGCTGGC 0.552 NA 7 22 0 0 0 0 N4BP3 23138 broad.mit.edu 37 5 177547335 177547335 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr5:177547335C>T uc003mik.1 + 3 734 c.487C>T c.(487-489)CGG>TGG p.R163W N4BP3_uc003mil.1_5'Flank NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 163 R -> Q (in Ref. 3; AAH53323). cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCGGGCCCCGGGCCAGCCA 0.706 NA 6 9 0 0 0 0 JARID2 3720 broad.mit.edu 37 6 15410497 15410497 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:15410497C>T uc003nbj.2 + 3 468 c.224C>T c.(223-225)TCA>TTA p.S75L JARID2_uc011diu.1_5'UTR|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.S37L NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 75 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GGACCAGCATCAGAACAGTCA 0.463 NA 114 27 0 0 0 0 LRRC16A 55604 broad.mit.edu 37 6 25450578 25450578 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:25450578C>T uc011djw.1 + 7 857 c.481C>T c.(481-483)CAG>TAG p.Q161* LRRC16A_uc010jpx.2_Nonsense_Mutation_p.Q161*|LRRC16A_uc010jpy.2_Nonsense_Mutation_p.Q161*|LRRC16A_uc003nez.1_5'UTR NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 161 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 TGGATTTTCTCAGATGTATGC 0.378 NA 17 14 0 0 0 0 OR11A1 26531 broad.mit.edu 37 6 29394966 29394966 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:29394966G>C uc003nmg.2 - 1 544 c.453C>G c.(451-453)CTC>CTG p.L151L NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAAATCCAGAGAGCCAGGTTG 0.547 NA 17 19 0 0 0 0 TAP1 6890 broad.mit.edu 37 6 32815407 32815407 + Nonsense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:32815407G>A uc003ocg.2 - 9 2121 c.1966C>T c.(1966-1968)CAA>TAA p.Q656* PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Nonsense_Mutation_p.Q395* NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 656 Cytoplasmic (Potential).|ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 ATATTTTCTTGAAGACTTCTT 0.468 NA 26 15 0 0 0 0 ITPR3 3710 broad.mit.edu 37 6 33660555 33660555 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:33660555C>T uc011drk.1 + 55 7728 c.7509C>T c.(7507-7509)ATC>ATT p.I2503I ITPR3_uc003oey.2_Silent_p.I590I NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2503 Helical; (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TCTTCTTCATCGTCATCATCA 0.537 NA 32 35 0 0 0 0 KCNK5 8645 broad.mit.edu 37 6 39159321 39159321 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:39159321C>T uc003oon.2 - 5 1209 c.845G>A c.(844-846)AGC>AAC p.S282N NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 282 Cytoplasmic (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GGAGGCTGTGCTCCCCTTCAC 0.547 NA 71 48 0 0 0 0 DAAM2 23500 broad.mit.edu 37 6 39846340 39846340 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:39846340G>C uc003oow.2 + 13 1677 c.1521G>C c.(1519-1521)CTG>CTC p.L507L DAAM2_uc010jxc.2_Silent_p.L507L|DAAM2_uc003oox.2_Silent_p.L507L NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 507 Potential. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TGGCAGAGCTGGTAGCCCAGC 0.582 NA 3 1 0 0 0 0 GCM1 8521 broad.mit.edu 37 6 52993467 52993467 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:52993467G>A uc003pbp.2 - 6 1057 c.848C>T c.(847-849)TCT>TTT p.S283F NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 283 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TCCGGAGGCAGAAGGAGGAAG 0.473 NA 22 48 0 0 0 0 IBTK 25998 broad.mit.edu 37 6 82927733 82927733 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:82927733C>G uc003pjl.1 - 10 1897 c.1370G>C c.(1369-1371)GGA>GCA p.G457A IBTK_uc011dyv.1_Missense_Mutation_p.G457A|IBTK_uc011dyw.1_Missense_Mutation_p.G457A|IBTK_uc010kbi.1_Missense_Mutation_p.G151A|IBTK_uc003pjm.2_Missense_Mutation_p.G457A NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 457 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AAATCCTTCTCCATCTTGCGT 0.353 NA 21 32 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83830475 83830475 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:83830475G>A uc003pjs.1 + 10 1324 c.1064G>A c.(1063-1065)CGC>CAC p.R355H DOPEY1_uc011dyy.1_Missense_Mutation_p.R346H|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346H NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 355 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGCCTTTTCGCATTTTAATC 0.368 NA 12 45 0 0 0 0 SFRS18 25957 broad.mit.edu 37 6 99856061 99856061 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:99856061C>T uc003ppo.3 - 7 988 c.760G>A c.(760-762)GAA>AAA p.E254K SFRS18_uc003ppp.3_Missense_Mutation_p.E254K|SFRS18_uc011eag.1_Missense_Mutation_p.E254K|SFRS18_uc003ppr.2_Missense_Mutation_p.E254K NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 254 Potential. nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TCCATTCTTTCTTTCTCCAAT 0.443 NA 52 68 0 0 0 0 SLC22A16 85413 broad.mit.edu 37 6 110778028 110778028 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:110778028C>G uc003puf.2 - 2 313 c.246G>C c.(244-246)CAG>CAC p.Q82H SLC22A16_uc003pue.2_Intron|SLC22A16_uc003pug.2_Missense_Mutation_p.Q82H NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 82 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CATAATCTTTCTGGCCTGAAG 0.488 NA 64 128 0 0 0 0 GTF3C6 112495 broad.mit.edu 37 6 111288781 111288781 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:111288781C>G uc003pum.2 + 6 640 c.430C>G c.(430-432)CTA>GTA p.L144V NM_138408 NP_612417 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 144 transcription factor TFIIIC complex DNA binding|protein binding 0 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) TTGTAACTTTCTACATGAAAA 0.393 NA 62 121 0 0 0 0 TSPYL1 7259 broad.mit.edu 37 6 116599934 116599934 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:116599934G>C uc003pwp.3 - 1 1347 c.1060C>G c.(1060-1062)CCA>GCA p.P354A DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank NM_003309 NP_003300 Q9H0U9 TSYL1_HUMAN TSPY-like 1 354 nucleosome assembly nucleolus 0 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CATATAATTGGAGTAGAAAGA 0.473 NA 43 98 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117150061 117150061 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:117150061C>G uc003pxj.1 - 1 138 c.116G>C c.(115-117)GGA>GCA p.G39A GPRC6A_uc003pxk.1_Missense_Mutation_p.G39A|GPRC6A_uc003pxl.1_Missense_Mutation_p.G39A NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 39 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAACAAACCTCCAATTATGAT 0.433 NA 22 33 0 0 0 0 TRDN 10345 broad.mit.edu 37 6 123869710 123869710 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:123869710C>T uc003pzj.1 - 3 302 c.280G>A c.(280-282)GAT>AAT p.D94N TRDN_uc003pzk.1_Missense_Mutation_p.D94N|TRDN_uc003pzl.1_Missense_Mutation_p.D94N|TRDN_uc010ken.2_Missense_Mutation_p.D94N|TRDN_uc010keo.1_Missense_Mutation_p.D94N NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 94 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) TCCATAGCATCACGTACCAGT 0.353 NA 4 4 0 0 0 0 ENPP3 5169 broad.mit.edu 37 6 131999049 131999049 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:131999049C>G uc003qcu.3 + 12 1327 c.980C>G c.(979-981)TCT>TGT p.S327C ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.S327C NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 327 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CCTGATTCCTCTGGACATGCA 0.348 NA 18 40 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599330 136599330 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:136599330G>A uc003qgx.1 - 4 942 c.689C>T c.(688-690)TCA>TTA p.S230L BCLAF1_uc003qgw.1_Missense_Mutation_p.S230L|BCLAF1_uc003qgy.1_Missense_Mutation_p.S228L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S228L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 230 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGCAATAGGTGAAGGACTATG 0.433 NA 41 125 0 0 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245833 137245833 + Nonstop_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:137245833G>C uc003qhe.2 + 2 1415 c.1250G>C c.(1249-1251)TGA>TCA p.*417S NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 417 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CCCAGTCCTTGAGAAGGAGGT 0.408 NA 25 34 0 0 0 0 PERP 64065 broad.mit.edu 37 6 138428475 138428475 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:138428475C>A uc003qht.2 - 1 186 c.3G>T c.(1-3)ATG>ATT p.M1I NM_022121 NP_071404 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 1 apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus 0 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) CGCAGCGGATCATGTTGACGG 0.582 NA 20 35 2.39e-15 2.61e-15 1 0 SHPRH 257218 broad.mit.edu 37 6 146264599 146264599 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:146264599C>T uc003qlf.2 - 9 2317 c.1918G>A c.(1918-1920)GAT>AAT p.D640N SHPRH_uc003qld.2_Missense_Mutation_p.D640N|SHPRH_uc003qle.2_Missense_Mutation_p.D640N|SHPRH_uc003qlg.1_Missense_Mutation_p.D196N|SHPRH_uc003qlj.1_Missense_Mutation_p.D529N NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 640 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ACATCACTATCAGCATGATTT 0.393 NA 42 90 0 0 0 0 NUP43 348995 broad.mit.edu 37 6 150052833 150052833 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:150052833G>C uc003qmz.2 - 7 886 c.829C>G c.(829-831)CTT>GTT p.L277V NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.L181V NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 277 WD 6. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CAGGTAAAAAGATGTTCTGGG 0.423 NA 15 27 0 0 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152198 151152198 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:151152198G>C uc003qny.1 + 16 2263 c.1951G>C c.(1951-1953)GAG>CAG p.E651Q PLEKHG1_uc011eel.1_Missense_Mutation_p.E691Q|PLEKHG1_uc011eem.1_Missense_Mutation_p.E710Q|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E651Q NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 651 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GTCATCCATAGAGTTGACTAT 0.453 NA 12 18 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152644705 152644705 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:152644705G>C uc010kiw.2 - 82 16427 c.15825C>G c.(15823-15825)ACC>ACG p.T5275T SYNE1_uc003qot.3_Silent_p.T5204T|SYNE1_uc003qou.3_Silent_p.T5275T|SYNE1_uc010kiz.2_Silent_p.T1030T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5275 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATGCTCAGGGTTTGCTGCC 0.567 NA HNSCC(10;0.0054) 26 46 0 0 0 0 C6orf120 387263 broad.mit.edu 37 6 170102948 170102948 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:170102948G>A uc003qxb.2 + 1 692 c.393G>A c.(391-393)ATG>ATA p.M131I WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.M150I NM_001029863 NP_001025034 Q7Z4R8 CF120_HUMAN hypothetical protein LOC387263 precursor 131 extracellular region 0 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015) AGTTCGAGATGAAGGTGTACT 0.711 NA 10 24 0 0 0 0 FAM120B 84498 broad.mit.edu 37 6 170626882 170626882 + Nonsense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr6:170626882C>G uc003qxp.2 + 2 512 c.404C>G c.(403-405)TCA>TGA p.S135* FAM120B_uc003qxo.1_Nonsense_Mutation_p.S135*|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 135 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TTCATCCCCTCAGGGCTAGCT 0.458 NA 36 67 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4247913 4247913 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:4247913G>A uc003smx.2 + 37 5536 c.5397G>A c.(5395-5397)CAG>CAA p.Q1799Q SDK1_uc010kso.2_Silent_p.Q1055Q|SDK1_uc003smy.2_Silent_p.Q286Q NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1799 cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCACCCACCAGGCCGGTAGGA 0.627 NA 8 26 0 0 0 0 RADIL 55698 broad.mit.edu 37 7 4862113 4862113 + Nonsense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:4862113C>T uc003snj.1 - 6 1700 c.1527G>A c.(1525-1527)TGG>TGA p.W509* RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Nonsense_Mutation_p.W14*|RADIL_uc011jwc.1_Nonsense_Mutation_p.W269*|RADIL_uc011jwd.1_Intron NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 509 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding p.W509*(1) lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) AGTTAGACATCCAGAAAAGAA 0.537 NA 12 42 0 0 0 0 AHR 196 broad.mit.edu 37 7 17379231 17379231 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:17379231C>G uc011jxz.1 + 10 2395 c.1782C>G c.(1780-1782)TTC>TTG p.F594L AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 594 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) AGTCTCCCTTCATACCTTCAG 0.403 NA 51 79 0 0 0 0 DPY19L1 23333 broad.mit.edu 37 7 34997615 34997615 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:34997615G>A uc003tem.3 - 11 1086 c.941C>T c.(940-942)TCT>TTT p.S314F NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 314 Helical; (Potential). integral to membrane 0 TACCAAAGAAGAAGCATAATA 0.289 NA 4 17 0 0 0 0 NPC1L1 29881 broad.mit.edu 37 7 44555448 44555448 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:44555448G>A uc003tlb.2 - 19 3887 c.3831C>T c.(3829-3831)GGC>GGT p.G1277G NPC1L1_uc003tlc.2_Silent_p.G1250G|NPC1L1_uc011kbw.1_Silent_p.G1204G|NPC1L1_uc003tla.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1277 Cytoplasmic (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) CATGCAGCAGGCCCAGCAGAG 0.577 NA 15 30 0 0 0 0 COBL 23242 broad.mit.edu 37 7 51096582 51096582 + Silent SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:51096582C>A uc003tpr.3 - 10 2396 c.2211G>T c.(2209-2211)GGG>GGT p.G737G COBL_uc003tps.2_Silent_p.G794G|COBL_uc011kcl.1_Silent_p.G737G|COBL_uc003tpp.3_Silent_p.G523G|COBL_uc003tpq.3_Silent_p.G678G|COBL_uc003tpo.3_Silent_p.G279G NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 737 skin(3)|ovary(2) 5 Glioma(55;0.08) TCACCAAGTTCCCCAGCTCGT 0.507 NA 20 41 0.00188189 0.00193087 1 0 VKORC1L1 154807 broad.mit.edu 37 7 65419170 65419170 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:65419170C>G uc003tul.2 + 3 516 c.414C>G c.(412-414)TTC>TTG p.F138L VKORC1L1_uc011kds.1_Missense_Mutation_p.L102V|VKORC1L1_uc003tum.1_5'Flank NM_173517 NP_775788 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 138 Helical; (Potential). integral to membrane 0 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) TGAAGGAGTTCTGCATCATCT 0.517 NA 35 39 0 0 0 0 GUSB 2990 broad.mit.edu 37 7 65439419 65439419 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:65439419G>A uc003tun.2 - 8 1330 c.1254C>T c.(1252-1254)TTC>TTT p.F418F GUSB_uc011kdt.1_Silent_p.F272F NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 418 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 AAACGTTGTTGAAGAACTGCC 0.632 NA 35 47 0 0 0 0 STYXL1 51657 broad.mit.edu 37 7 75630281 75630281 + Missense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:75630281G>T uc003uej.3 - 8 910 c.737C>A c.(736-738)TCC>TAC p.S246Y STYXL1_uc003uef.2_Intron|STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_Intron|STYXL1_uc003ueh.2_Missense_Mutation_p.S108Y|STYXL1_uc003uek.3_Missense_Mutation_p.S150Y|STYXL1_uc003uel.2_Missense_Mutation_p.S246Y|STYXL1_uc003uem.2_Missense_Mutation_p.S246Y|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.S246Y|STYXL1_uc003uen.1_Intron NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 246 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 ACCTTGGGTGGAAAAGATCAG 0.567 NA 33 103 1.31e-17 1.44e-17 1 0 PEX1 5189 broad.mit.edu 37 7 92131290 92131290 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:92131290C>G uc003uly.2 - 14 2426 c.2330G>C c.(2329-2331)GGC>GCC p.G777A PEX1_uc011khr.1_Missense_Mutation_p.G569A|PEX1_uc010ley.2_Missense_Mutation_p.G720A|PEX1_uc011khs.1_Missense_Mutation_p.G455A|PEX1_uc011kht.1_Intron NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 777 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CACAAACCCGCCAGTTTCTTT 0.378 NA 121 191 0 0 0 0 SGCE 8910 broad.mit.edu 37 7 94230021 94230021 + Nonsense_Mutation SNP G G T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:94230021G>T uc003unl.2 - 7 1085 c.974C>A c.(973-975)TCG>TAG p.S325* SGCE_uc003unk.2_Nonsense_Mutation_p.S157*|SGCE_uc003unm.2_Nonsense_Mutation_p.S325*|SGCE_uc003unn.2_Nonsense_Mutation_p.S325*|SGCE_uc011kic.1_Nonsense_Mutation_p.S284*|SGCE_uc011kid.1_Nonsense_Mutation_p.S361* NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 325 Cys-rich.|Helical; (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGCCACTGCCGAGGGCACAGC 0.433 NA 19 31 4.35e-09 4.64e-09 1 0 ZNF3 7551 broad.mit.edu 37 7 99674971 99674971 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:99674971G>C uc003usq.2 - 3 317 c.10C>G c.(10-12)CAG>GAG p.Q4E ZNF3_uc003usp.2_Missense_Mutation_p.Q4E|ZNF3_uc003usr.2_Missense_Mutation_p.Q4E|ZNF3_uc010lgj.2_Intron|ZNF3_uc003uss.2_Intron|ZNF3_uc003ust.3_Missense_Mutation_p.Q4E NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 4 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) AGATCAGCCTGAGTTTCCATG 0.438 NA 50 88 0 0 0 0 C7orf43 55262 broad.mit.edu 37 7 99754719 99754719 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:99754719G>A uc003utr.2 - 5 1023 c.843C>T c.(841-843)GTC>GTT p.V281V C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.V49V|C7orf43_uc003uts.2_Silent_p.V12V NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 281 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GACCTCACCAGACATTGTCCA 0.572 NA 21 66 0 0 0 0 C7orf43 55262 broad.mit.edu 37 7 99755503 99755503 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:99755503G>A uc003utr.2 - 2 650 c.470C>T c.(469-471)TCA>TTA p.S157L C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 157 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTATCCAGTGAAACGGTGAG 0.537 NA 11 29 0 0 0 0 ACHE 43 broad.mit.edu 37 7 100488803 100488803 + Silent SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:100488803C>T uc003uxd.2 - 3 1866 c.1710G>A c.(1708-1710)TTG>TTA p.L570L UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.L570L|ACHE_uc003uxf.2_Silent_p.L570L|ACHE_uc003uxg.2_Silent_p.L570L|ACHE_uc003uxh.2_Silent_p.L482L|ACHE_uc003uxi.2_Silent_p.L570L NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 570 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) TGGCGCTGAGCAATTTGGGGA 0.701 NA 8 9 0 0 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102045060 102045060 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:102045060G>C uc003uzh.2 + 4 377 c.322G>C c.(322-324)GAG>CAG p.E108Q PRKRIP1_uc003uzf.2_Missense_Mutation_p.E57Q|PRKRIP1_uc003uzg.2_Missense_Mutation_p.E57Q|PRKRIP1_uc011kkq.1_Missense_Mutation_p.E51Q|PRKRIP1_uc011kkr.1_Missense_Mutation_p.E108Q NM_024653 NP_078929 Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 108 Potential.|Required for RNA-binding (By similarity). nucleolus ovary(1) 1 ATTGGATGCAGAGTTTCAGAA 0.483 NA OREG0018229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 102 0 0 0 0 LAMB4 22798 broad.mit.edu 37 7 107678026 107678026 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:107678026G>C uc010ljo.1 - 30 4570 c.4486C>G c.(4486-4488)CCA>GCA p.P1496A LAMB4_uc003vey.2_Missense_Mutation_p.P1496A|LAMB4_uc010ljp.1_Missense_Mutation_p.P465A NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1496 Domain I. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ATGTCTTCTGGAGGCACGTTT 0.388 NA 31 71 0 0 0 0 WNT2 7472 broad.mit.edu 37 7 116918349 116918349 + Missense_Mutation SNP T T G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:116918349T>G uc003viz.2 - 5 1243 c.943A>C c.(943-945)ACC>CCC p.T315P WNT2_uc003vja.2_Missense_Mutation_p.T219P NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 315 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ACATGGGAGGTGTCGTAGCCT 0.597 NA 10 34 0 0 0 0 FSCN3 29999 broad.mit.edu 37 7 127240257 127240257 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:127240257G>A uc003vmd.1 + 6 1520 c.1301G>A c.(1300-1302)GGA>GAA p.G434E FSCN3_uc011koh.1_Silent_p.G298G|FSCN3_uc010llc.1_Silent_p.G432G NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 434 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 GCACAGGGGGGATCCTTCTGG 0.562 NA 21 41 0 0 0 0 NUP205 23165 broad.mit.edu 37 7 135292103 135292103 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:135292103C>G uc003vsw.2 + 22 3210 c.3179C>G c.(3178-3180)GCT>GGT p.A1060G NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1060 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CCTCAGCTGGCTGAGCTATGT 0.498 NA 24 19 0 0 0 0 EPHB6 2051 broad.mit.edu 37 7 142561964 142561964 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:142561964G>A uc011kst.1 + 7 1193 c.406G>A c.(406-408)GAG>AAG p.E136K EPHB6_uc011ksu.1_Missense_Mutation_p.E136K|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 136 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CCGTCAGGCTGAGGAGCCCGA 0.577 NA 31 50 0 0 0 0 EPHA1 2041 broad.mit.edu 37 7 143104760 143104760 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:143104760C>T uc003wcz.2 - 2 181 c.94G>A c.(94-96)GAC>AAC p.D32N uc003wda.2_5'Flank NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 32 Extracellular (Potential). 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) TTGCTTGTGTCCATCAGAGTA 0.562 NA 99 149 0 0 0 0 OR2A2 442361 broad.mit.edu 37 7 143807003 143807003 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:143807003G>C uc011ktz.1 + 1 328 c.328G>C c.(328-330)GAG>CAG p.E110Q NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) TGCTGTTACAGAGTGCCTGAT 0.443 NA 57 126 0 0 0 0 MSRA 4482 broad.mit.edu 37 8 10102704 10102704 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:10102704C>T uc003wsx.2 + 3 499 c.302C>T c.(301-303)TCA>TTA p.S101L MSRA_uc011kwx.1_Intron|MSRA_uc011kwy.1_Missense_Mutation_p.S58L|MSRA_uc003wsz.2_Missense_Mutation_p.S58L|MSRA_uc003wsy.2_Missense_Mutation_p.S35L NM_012331 NP_036463 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A isoform a 101 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity 0 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) GGCTATACTTCAAATCCTACT 0.408 NA 34 60 0 0 0 0 CTSB 1508 broad.mit.edu 37 8 11706668 11706668 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:11706668G>A uc003wum.2 - 7 657 c.333C>T c.(331-333)TTC>TTT p.F111F CTSB_uc003wul.2_5'Flank|CTSB_uc011kxl.1_Silent_p.F32F|CTSB_uc003wun.2_Silent_p.F111F|CTSB_uc003wuo.2_Silent_p.F111F|CTSB_uc003wup.2_Silent_p.F111F|CTSB_uc003wuq.2_Silent_p.F111F|CTSB_uc010lsc.2_Intron|CTSB_uc003wur.2_Silent_p.F111F|CTSB_uc003wus.1_Silent_p.F111F|CTSB_uc003wut.1_Silent_p.F111F|CTSB_uc003wuu.2_5'UTR NM_147780 NP_680090 P07858 CATB_HUMAN cathepsin B preproprotein 111 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity 0 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CCACAGCCCCGAAGGCCTGCA 0.657 NA 7 27 0 0 0 0 EPHX2 2053 broad.mit.edu 37 8 27394310 27394310 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:27394310G>A uc003xfu.2 + 13 1261 c.1180G>A c.(1180-1182)GAG>AAG p.E394K EPHX2_uc010lut.1_Missense_Mutation_p.E394K|EPHX2_uc010luu.2_Missense_Mutation_p.E362K|EPHX2_uc010luv.2_Missense_Mutation_p.E328K|EPHX2_uc003xfv.2_Missense_Mutation_p.E341K|EPHX2_uc010luw.2_Missense_Mutation_p.E328K NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 394 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GGGAGTGGCTGAGGCTGAACT 0.512 NA 30 68 0 0 0 0 C8orf80 389643 broad.mit.edu 37 8 27898624 27898624 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:27898624C>T uc003xgm.3 - 13 1698 c.1555G>A c.(1555-1557)GAA>AAA p.E519K NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 519 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) CTGACCCCTTCTTGCAGAGGC 0.567 NA 9 5 0 0 0 0 ELP3 55140 broad.mit.edu 37 8 27967950 27967950 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:27967950G>C uc003xgo.3 + 6 605 c.457G>C c.(457-459)GAA>CAA p.E153Q ELP3_uc003xgn.3_Missense_Mutation_p.E138Q|ELP3_uc011laq.1_Missense_Mutation_p.E81Q|ELP3_uc011lar.1_Missense_Mutation_p.E61Q|ELP3_uc011las.1_Missense_Mutation_p.E34Q|ELP3_uc011lat.1_Missense_Mutation_p.E34Q NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 153 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) ACACCGAATAGAACAGGTACA 0.343 NA 31 59 0 0 0 0 C8orf4 56892 broad.mit.edu 37 8 40011187 40011187 + Missense_Mutation SNP G G A rs10353 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:40011187G>A uc003xnq.1 + 1 199 c.136G>A c.(136-138)GAA>AAA p.E46K NM_020130 NP_064515 Q9NR00 CH004_HUMAN thyroid cancer-1 46 apoptosis ovary(1) 1 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CACAGACCAAGAATCACTAGA 0.488 NA 29 46 0 0 0 0 MCM4 4173 broad.mit.edu 37 8 48885504 48885504 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:48885504G>C uc003xqk.1 + 14 2111 c.2016G>C c.(2014-2016)CAG>CAC p.Q672H MCM4_uc003xql.1_Missense_Mutation_p.Q672H|MCM4_uc011ldi.1_Missense_Mutation_p.Q659H NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 672 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGTACTACCAGAGCGAGGAGC 0.552 NA 14 28 0 0 0 0 HEY1 23462 broad.mit.edu 37 8 80677568 80677568 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:80677568G>A uc003ybm.2 - 5 970 c.770C>T c.(769-771)TCA>TTA p.S257L HEY1_uc010lzq.2_Missense_Mutation_p.S138L|HEY1_uc003ybl.2_Missense_Mutation_p.S261L NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 257 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) GGAGGCCACTGAGGAGAGCAG 0.652 NA OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 6 0 0 0 0 ESRP1 54845 broad.mit.edu 37 8 95709092 95709092 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:95709092G>C uc003ygq.3 + 15 2167 c.1984G>C c.(1984-1986)GAT>CAT p.D662H ESRP1_uc003ygr.3_Missense_Mutation_p.D658H|ESRP1_uc003ygs.3_Intron|ESRP1_uc003ygt.3_Intron|ESRP1_uc003ygu.3_Intron|ESRP1_uc003ygv.2_Intron|ESRP1_uc003ygw.2_Missense_Mutation_p.R451S NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 662 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 TGCAACCGAGGATGGACTTAT 0.388 NA 3 10 0 0 0 0 INTS8 55656 broad.mit.edu 37 8 95869113 95869113 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:95869113C>T uc003yhb.2 + 15 1987 c.1861C>T c.(1861-1863)CAT>TAT p.H621Y INTS8_uc003yha.1_Missense_Mutation_p.H621Y|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.H448Y NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 621 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TTTGGATATTCATACACACGA 0.488 NA 51 77 0 0 0 0 TTC35 9694 broad.mit.edu 37 8 109462710 109462710 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:109462710G>A uc003ymw.1 + 3 243 c.208G>A c.(208-210)GAC>AAC p.D70N NM_014673 NP_055488 Q15006 TTC35_HUMAN tetratricopeptide repeat domain 35 70 endoplasmic reticulum|nucleus binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) TGGTCGGGATGACTTGGCATT 0.318 NA 34 63 0 0 0 0 DERL1 79139 broad.mit.edu 37 8 124042888 124042888 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:124042888G>C uc003ypl.2 - 2 508 c.222C>G c.(220-222)GTC>GTG p.V74V DERL1_uc003ypm.2_Silent_p.V74V|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.V74V NM_024295 NP_077271 Q9BUN8 DERL1_HUMAN Der1-like domain family, member 1 isoform a 74 Helical; Name=2; (Potential). endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity 0 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AATATAAATTGACCAAATAAA 0.363 NA 32 71 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 125078776 125078776 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:125078776G>A uc003yqw.2 + 27 3869 c.3663G>A c.(3661-3663)CTG>CTA p.L1221L uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1221 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATGCCTCCCTGAAGAAAGCCC 0.483 NA 9 158 0 0 0 0 PHF20L1 51105 broad.mit.edu 37 8 133855066 133855066 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:133855066G>A uc003ytt.2 + 19 3019 c.2694G>A c.(2692-2694)ATG>ATA p.M898I PHF20L1_uc011lja.1_Missense_Mutation_p.M872I NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 898 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AATTCCACATGAGAAGTAAAA 0.383 NA 34 78 0 0 0 0 PSCA 8000 broad.mit.edu 37 8 143763453 143763453 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:143763453G>A uc003ywu.2 + 3 330 c.275G>A c.(274-276)TGC>TAC p.C92Y uc003ywt.1_5'Flank NM_005672 NP_005663 O43653 PSCA_HUMAN prostate stem cell antigen preproprotein 83 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACCGACTTGTGCAACGCCAGC 0.627 NA 14 23 0 0 0 0 ZNF707 286075 broad.mit.edu 37 8 144776267 144776267 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:144776267G>A uc003yze.3 + 7 998 c.683G>A c.(682-684)CGC>CAC p.R228H ZNF707_uc010mfh.2_Missense_Mutation_p.R228H|ZNF707_uc010mfi.2_Missense_Mutation_p.R228H|ZNF707_uc003yzf.3_Missense_Mutation_p.R228H|ZNF707_uc003yzh.3_Missense_Mutation_p.R155H|ZNF707_uc011lkq.1_RNA NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AACCACACGCGCGAGAAGCCC 0.667 NA 11 14 0 0 0 0 SCRIB 23513 broad.mit.edu 37 8 144877604 144877604 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:144877604C>G uc003yzp.1 - 25 3707 c.3700G>C c.(3700-3702)GAG>CAG p.E1234Q SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.E1234Q NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1234 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCTGGGCCCTCAGGGCTCAGC 0.677 NA 4 10 0 0 0 0 COMMD5 28991 broad.mit.edu 37 8 146076069 146076069 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr8:146076069C>G uc003zem.2 - 2 786 c.655G>C c.(655-657)GAG>CAG p.E219Q COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.E219Q|COMMD5_uc003zeo.3_Missense_Mutation_p.E219Q|COMMD5_uc010mgf.2_Missense_Mutation_p.E219Q NM_001081004 NP_001074473 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 219 nucleus protein binding ovary(1) 1 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) 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) AGTCTGCGCTCACACCTCTTC 0.582 NA 10 20 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777191 18777191 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:18777191G>A uc003zne.3 + 19 3091 c.2964G>A c.(2962-2964)CCG>CCA p.P988P NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 988 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) AGGGCGGCCCGAAGGAGGCCC 0.652 NA 12 16 0 0 0 0 TOPORS 10210 broad.mit.edu 37 9 32541770 32541770 + Missense_Mutation SNP G G A rs142671355 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:32541770G>A uc003zrb.2 - 3 2920 c.2753C>T c.(2752-2754)TCT>TTT p.S918F TOPORS_uc003zrc.2_Missense_Mutation_p.S851F NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 918 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTTTACTTCAGAATCCTTATC 0.338 NA 65 44 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32630255 32630255 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:32630255C>A uc003zrg.1 - 1 5413 c.5323G>T c.(5323-5325)GAT>TAT p.D1775Y NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1775 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTCCCAGCATCTTCCTCATCA 0.453 NA 48 47 2.15e-31 2.4e-31 1 0 CCDC107 203260 broad.mit.edu 37 9 35660595 35660595 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:35660595G>C uc011lox.1 + 4 427 c.361G>C c.(361-363)GAG>CAG p.E121Q RMRP_uc003zxh.1_5'Flank|CCDC107_uc011loy.1_Missense_Mutation_p.E121Q|CCDC107_uc003zxj.2_Missense_Mutation_p.E121Q|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_RNA|C9orf100_uc003zxm.1_3'UTR NM_174923 NP_777583 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 precursor 121 Potential. integral to membrane 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCCCAGACAGAGCAGCACCT 0.527 NA 23 44 0 0 0 0 GLIPR2 152007 broad.mit.edu 37 9 36162499 36162499 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:36162499G>A uc003zyz.2 + 5 479 c.445G>A c.(445-447)GTC>ATC p.V149I GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron NM_022343 NP_071738 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 149 TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019). extracellular region|Golgi membrane skin(3)|central_nervous_system(1) 4 CGAAGAAAACGTCCTGCCGCC 0.537 NA 29 22 0 0 0 0 ZNF658 26149 broad.mit.edu 37 9 40772752 40772752 + Silent SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:40772752G>C uc004abs.2 - 5 2675 c.2523C>G c.(2521-2523)CTC>CTG p.L841L ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.L841L NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 841 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GATGTGCACAGAGGTGTGTTC 0.433 NA 15 66 0 0 0 0 ZNF169 169841 broad.mit.edu 37 9 97062208 97062208 + Nonsense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:97062208C>A uc004aum.1 + 5 473 c.368C>A c.(367-369)TCA>TAA p.S123* NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 123 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) TTCCCAAGCTCATCTGCAGGA 0.507 NA 27 22 1.13e-08 1.2e-08 1 0 ZNF462 58499 broad.mit.edu 37 9 109687761 109687761 + Nonsense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:109687761C>G uc004bcz.2 + 3 1857 c.1568C>G c.(1567-1569)TCA>TGA p.S523* ZNF462_uc010mto.2_Nonsense_Mutation_p.S371*|ZNF462_uc004bda.2_Nonsense_Mutation_p.S371* NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 523 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TATGAGAGCTCAAGCATCAAT 0.373 NA 18 17 0 0 0 0 C5 727 broad.mit.edu 37 9 123808549 123808549 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:123808549G>C uc004bkv.2 - 2 208 c.178C>G c.(178-180)CCT>GCT p.P60A C5_uc010mvm.1_Missense_Mutation_p.P60A|C5_uc010mvn.1_Missense_Mutation_p.P60A NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 60 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TTTTTATCAGGATAACTTTTA 0.313 NA 30 21 0 0 0 0 DPP7 29952 broad.mit.edu 37 9 140007428 140007428 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr9:140007428G>A uc004clh.2 - 7 877 c.847C>T c.(847-849)CCC>TCC p.P283S NM_013379 NP_037511 Q9UHL4 DPP2_HUMAN dipeptidyl peptidase 7 preproprotein 283 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) GCAGGGAGGGGACCCAGGAAG 0.667 NA 30 12 0 0 0 0 ARHGAP6 395 broad.mit.edu 37 X 11204461 11204461 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:11204461G>C uc004cup.1 - 5 2041 c.1168C>G c.(1168-1170)CAA>GAA p.Q390E ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q390E|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q187E|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q210E|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q212E|ARHGAP6_uc011mif.1_Missense_Mutation_p.Q187E NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 390 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 TTTTTACTTTGAGCCTCAGCA 0.453 NA 89 32 0 0 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456555 40456555 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:40456555G>C uc004det.2 + 4 457 c.355G>C c.(355-357)GAG>CAG p.E119Q ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E43Q|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory 119 Extracellular (Potential). angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 CTTATTTTCTGAGGAAACTCC 0.323 NA 33 19 0 0 0 0 CXorf38 159013 broad.mit.edu 37 X 40496291 40496291 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:40496291C>G uc004dew.2 - 4 594 c.589G>C c.(589-591)GAG>CAG p.E197Q CXorf38_uc011mko.1_Missense_Mutation_p.E112Q|CXorf38_uc004dev.1_Missense_Mutation_p.E78Q|CXorf38_uc010nhd.2_RNA NM_144970 NP_659407 Q8TB03 CX038_HUMAN hypothetical protein LOC159013 197 ovary(1) 1 GCCACAATCTCTGGGATGTTC 0.368 NA 30 11 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53654387 53654387 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:53654387C>T uc004dsp.2 - 17 1865 c.1463G>A c.(1462-1464)GGA>GAA p.G488E NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 488 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CATTTCCTCTCCTTCTTGTGT 0.378 NA 40 18 0 0 0 0 ARR3 407 broad.mit.edu 37 X 69496305 69496305 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:69496305C>G uc004dyb.2 + 7 436 c.368C>G c.(367-369)TCT>TGT p.S123C ARR3_uc004dya.2_Missense_Mutation_p.S123C NM_004312 NP_004303 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 123 signal transduction|visual perception cytoplasm|soluble fraction large_intestine(2)|ovary(2) 4 CTGCCCTGTTCTGTGACACTG 0.478 NA 27 8 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135430993 135430993 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:135430993G>A uc004ezu.1 + 6 5419 c.5128G>A c.(5128-5130)GAT>AAT p.D1710N GPR112_uc010nsb.1_Missense_Mutation_p.D1505N|GPR112_uc010nsc.1_Missense_Mutation_p.D1477N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1710 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ATCACAAGCAGATGAGGCTAC 0.438 NA 83 25 0 0 0 0 MECP2 4204 broad.mit.edu 37 X 153296808 153296808 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:153296808G>A uc004fjv.2 - 4 697 c.471C>T c.(469-471)TTC>TTT p.F157F MECP2_uc004fjw.2_Silent_p.F169F NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 157 MBD. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGTTACCGTGAAGTCAAAAT 0.562 NA 53 12 0 0 0 0 FLNA 2316 broad.mit.edu 37 X 153580937 153580937 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chrX:153580937G>A uc004fkk.2 - 40 6735 c.6486C>T c.(6484-6486)CTC>CTT p.L2162L FLNA_uc004fki.2_Silent_p.L205L|FLNA_uc011mzn.1_Silent_p.L295L|FLNA_uc010nuu.1_Silent_p.L2154L NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2162 Filamin 20. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) TTTTCAGGCTGAGGTCACAAT 0.637 NA 26 14 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976891 41976904 + Frame_Shift_Del DEL TGAGCAGGGCCGGG TGAGCAGGGCCGGG - rs147310017 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:41976891_41976904delTGAGCAGGGCCGGG uc001cgz.3 - 9 7652_7665 c.6439_6452delCCCGGCCCTGCTCA c.(6439-6453)CCCGGCCCTGCTCATfs p.P2147fs HIVEP3_uc001cha.3_Frame_Shift_Del_p.P2146fs|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2147_2151 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGAGAGAGGATGAGCAGGGCCGGGTGAGCAGGAG 0.551 NA 13 46 --- --- --- --- NA NA NA NA CELSR2 1952 broad.mit.edu 37 1 109811620 109811621 + Frame_Shift_Del DEL TG TG - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:109811620_109811621delTG uc001dxa.3 + 19 6682_6683 c.6621_6622delTG c.(6619-6624)TCTGTCfs p.S2207fs NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2207_2208 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGCCTGAGTCTGTCTTCAGAGG 0.599 NA 17 32 --- --- --- --- NA NA NA NA SIPA1L2 57568 broad.mit.edu 37 1 232649840 232649841 + Frame_Shift_Del DEL TC TC - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr1:232649840_232649841delTC uc001hvg.2 - 1 1403_1404 c.1245_1246delGA c.(1243-1248)GAGACTfs p.E415fs NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 415_416 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TCCCCTCCAGTCTCATTTCTAA 0.52 NA 73 258 --- --- --- --- NA NA NA NA E2F8 79733 broad.mit.edu 37 11 19247323 19247332 + Frame_Shift_Del DEL CTTGAGTTTT CTTGAGTTTT - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr11:19247323_19247332delCTTGAGTTTT uc001mpm.2 - 11 2495_2504 c.1973_1982delAAAACTCAAG c.(1972-1983)GAAAACTCAAGTfs p.E658fs E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.E658fs NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 658_661 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GGAAAGAGCACTTGAGTTTTCTTTACCAGA 0.49 NA 43 69 --- --- --- --- NA NA NA NA TMEM132B 114795 broad.mit.edu 37 12 125834005 125834020 + Frame_Shift_Del DEL GAGTCGAGGGATTGTG GAGTCGAGGGATTGTG - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr12:125834005_125834020delGAGTCGAGGGATTGTG uc001uhe.1 + 2 68_83 c.60_75delGAGTCGAGGGATTGTG c.(58-75)GAGAGTCGAGGGATTGTGfs p.E20fs NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 20_25 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGC 0.472 NA 21 120 --- --- --- --- NA NA NA NA TNFAIP2 7127 broad.mit.edu 37 14 103592944 103592946 + In_Frame_Del DEL GAA GAA - rs142147196 TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr14:103592944_103592946delGAA uc001ymm.1 + 1 281_283 c.150_152delGAA c.(148-153)GGGAAG>GGG p.K54del TNFAIP2_uc010awo.1_In_Frame_Del_p.R13del|TNFAIP2_uc010txz.1_5'Flank NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 54 Lys-rich (basic). angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) TCACCAAAGGGAAGAAGAAGAAG 0.562 NA 2 4 --- --- --- --- NA NA NA NA ITGAE 3682 broad.mit.edu 37 17 3658507 3658507 + Frame_Shift_Del DEL C C - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr17:3658507delC uc002fwo.3 - 12 1387 c.1288delG c.(1288-1290)GCGfs p.A430fs NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 430 FG-GAP 3.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TAGAGCAACGCCCCTCCGGAC 0.716 NA 5 4 --- --- --- --- NA NA NA NA ARHGEF1 9138 broad.mit.edu 37 19 42406794 42406803 + Frame_Shift_Del DEL TGTGCCTTCG TGTGCCTTCG - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:42406794_42406803delTGTGCCTTCG uc002orx.2 + 17 1718_1727 c.1609_1618delTGTGCCTTCG c.(1609-1620)TGTGCCTTCGTGfs p.C537fs ARHGEF1_uc002ory.2_Frame_Shift_Del_p.C504fs|ARHGEF1_uc002orz.2_Frame_Shift_Del_p.C375fs|ARHGEF1_uc002osa.2_Frame_Shift_Del_p.C552fs|ARHGEF1_uc002osb.2_Frame_Shift_Del_p.C519fs|ARHGEF1_uc002osc.2_Frame_Shift_Del_p.C291fs|ARHGEF1_uc002osd.2_Frame_Shift_Del_p.C196fs|ARHGEF1_uc002ose.2_5'Flank NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 537_540 DH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CCCTCGGTTCTGTGCCTTCGTGCAGGTGAG 0.443 NA 19 43 --- --- --- --- NA NA NA NA HRC 3270 broad.mit.edu 37 19 49657906 49657907 + In_Frame_Ins INS - - CTG TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr19:49657906_49657907insCTG uc002pmv.2 - 1 775_776 c.588_589insCAG c.(586-591)insCAG p.196_197insQ NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 196_197 4 X tandem repeats, acidic.|Glu-rich (acidic).|1-1.|6 X approximate tandem repeats. 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) tcctcctcctcctcctcctctt 0.446 NA 18 70 --- --- --- --- NA NA NA NA SLC4A4 8671 broad.mit.edu 37 4 72429528 72429529 + Frame_Shift_Ins INS - - A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr4:72429528_72429529insA uc003hfy.2 + 24 3235_3236 c.3118_3119insA c.(3118-3120)GAAfs p.E1040fs SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Frame_Shift_Ins_p.E956fs|SLC4A4_uc003hfz.2_Frame_Shift_Ins_p.E1040fs|SLC4A4_uc003hgc.3_Frame_Shift_Ins_p.E996fs|SLC4A4_uc010iid.2_Frame_Shift_Ins_p.E244fs NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 1040 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCCATACTCAGAAAAAGTTCCA 0.381 NA 69 174 --- --- --- --- NA NA NA NA ACTL6B 51412 broad.mit.edu 37 7 100246206 100246211 + In_Frame_Del DEL GATGTC GATGTC - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:100246206_100246211delGATGTC uc003uvy.2 - 7 744_749 c.637_642delGACATC c.(637-642)GACATCdel p.DI213del ACTL6B_uc003uvx.1_In_Frame_Del_p.DI4del|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 213_214 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AAGGTGGGATGATGTCAATGGCCATC 0.597 NA 9 12 --- --- --- --- NA NA NA NA MLL5 55904 broad.mit.edu 37 7 104703989 104704002 + Frame_Shift_Del DEL ACATGATGATGGAT ACATGATGATGGAT - TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52f12c71-2473-4411-aad6-318a3496e82c f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d g.chr7:104703989_104704002delACATGATGATGGAT uc003vcm.2 + 5 912_925 c.378_391delACATGATGATGGAT c.(376-393)ACACATGATGATGGATACfs p.T126fs MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Frame_Shift_Del_p.T126fs|MLL5_uc003vcl.2_Frame_Shift_Del_p.T126fs|MLL5_uc010ljc.2_Frame_Shift_Del_p.T126fs NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 126_131 PHD-type. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GTGGTTTTACACATGATGATGGATACATGATCTG 0.346 NA 23 79 --- --- --- --- NA NA NA NA