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 PHF13 148479 broad.mit.edu 37 1 6680226 6680226 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:6680226T>G uc001aob.3 + 3 876 c.505T>G c.(505-507)TCG>GCG p.S169A NM_153812 NP_722519 Q86YI8 PHF13_HUMAN PHD finger protein 13 169 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) CGACCCCTGCTCGGGCTGGGA 0.597 NA 16 31 0 0 0 0 RHD 6007 broad.mit.edu 37 1 25611200 25611200 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:25611200C>T uc001bjz.2 + 2 343 c.285C>T c.(283-285)GAC>GAT p.D95D RHD_uc010oep.1_Silent_p.D95D|RHD_uc001bkc.2_Silent_p.D95D|RHD_uc009vrm.2_Translation_Start_Site|RHD_uc001bka.2_Silent_p.D95D|RHD_uc001bkb.2_Silent_p.D95D|RHD_uc009vrn.2_Silent_p.D95D|RHD_uc009vro.2_Silent_p.D95D|RHD_uc009vrp.2_Silent_p.D95D NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 95 Helical; (Potential). integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCTGCTGGACGGCTTCCTGA 0.572 NA 5 53 0 0 0 0 DCDC2B 149069 broad.mit.edu 37 1 32677785 32677785 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:32677785G>C uc001bun.2 + 4 510 c.510G>C c.(508-510)CAG>CAC p.Q170H NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 170 Doublecortin 2. intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TCAAGTTGCAGAGTGGGGCTG 0.577 NA 8 87 0 0 0 0 EIF2C1 26523 broad.mit.edu 37 1 36367908 36367909 + Missense_Mutation DNP CC CC TA TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:36367908_36367909CC>TA uc001bzl.2 + 11 1580_1581 c.1367_1368CC>TA c.(1366-1368)CCC>CTA p.P456L EIF2C1_uc001bzk.2_Missense_Mutation_p.P381L|EIF2C1_uc009vuy.2_Intron NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 456 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGCTTCGCACCCCAAAAACAGT 0.574 NA 20 53 0 0 0 0 HEYL 26508 broad.mit.edu 37 1 40092678 40092678 + Missense_Mutation SNP G G A rs139668981 byFrequency TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:40092678G>A uc001cdp.2 - 5 539 c.488C>T c.(487-489)TCG>TTG p.S163L HEYL_uc010oiw.1_Missense_Mutation_p.S135L NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN hairy/enhancer-of-split related with YRPW 163 Pro-rich. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGGCGTGGGCGAAGGCTCCAT 0.652 NA 15 36 0 0 0 0 RLF 6018 broad.mit.edu 37 1 40701683 40701683 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:40701683G>C uc001cfc.3 + 8 1340 c.1309G>C c.(1309-1311)GAT>CAT p.D437H RLF_uc001cfd.3_Missense_Mutation_p.D128H NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 437 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TTTGCAACCAGATCAAAAATT 0.368 NA 23 111 0 0 0 0 AK5 26289 broad.mit.edu 37 1 77752661 77752661 + Missense_Mutation SNP A A C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:77752661A>C uc001dhn.2 + 2 353 c.96A>C c.(94-96)GAA>GAC p.E32D AK5_uc001dho.2_Missense_Mutation_p.E6D|AK5_uc001dhm.1_Missense_Mutation_p.E32D NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 32 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 CTAAGCCCGAAGATCCAGTAG 0.338 NA 34 44 0 0 0 0 SYDE2 84144 broad.mit.edu 37 1 85630216 85630216 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:85630216G>A uc009wcm.2 - 6 3127 c.3078C>T c.(3076-3078)CTC>CTT p.L1026L NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1026 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) TACCTGGCCAGAGTTGGAGTA 0.318 NA 5 11 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91861862 91861862 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:91861862G>A uc001doa.3 - 3 272 c.172C>T c.(172-174)CAT>TAT p.H58Y HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.H58Y NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 58 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AACAGTTTATGACTTTCTAAT 0.303 NA 7 26 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103480096 103480096 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:103480096G>A uc001dul.2 - 13 1861 c.1543C>T c.(1543-1545)CAG>TAG p.Q515* COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.Q527*|COL11A1_uc001dun.2_Nonsense_Mutation_p.Q476*|COL11A1_uc009weh.2_Nonsense_Mutation_p.Q399* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 515 Telopeptide. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTTGAGCCTGAGCTTCCTGA 0.418 NA 7 33 0 0 0 0 NTNG1 22854 broad.mit.edu 37 1 107691398 107691398 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:107691398G>A uc001dvh.3 + 2 901 c.183G>A c.(181-183)CTG>CTA p.L61L NTNG1_uc001dvf.3_Silent_p.L61L|NTNG1_uc010out.1_Silent_p.L61L|NTNG1_uc001dvc.3_Silent_p.L61L|NTNG1_uc001dvd.1_Silent_p.L61L NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 61 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CAAAATATCTGAAAGTGAAAC 0.423 NA 21 96 0 0 0 0 GPR61 83873 broad.mit.edu 37 1 110086037 110086037 + Silent SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:110086037C>G uc001dxy.2 + 2 1076 c.393C>G c.(391-393)CTC>CTG p.L131L NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 131 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TGGCCATCCTCTCGGTGTCAG 0.607 NA 22 92 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118693935 118693935 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:118693935G>C uc001ehk.2 - 2 213 c.145C>G c.(145-147)CTC>GTC p.L49V NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 49 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTTGGATGAGAAGATCATCT 0.453 NA 8 41 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145301812 145301812 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:145301812G>A uc001end.3 + 7 1116 c.1081G>A c.(1081-1083)GAG>AAG p.E361K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E361K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E90K NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 361 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAAGCAAGCTGAGGAGCTCAG 0.522 NA 28 183 0 0 0 0 ITGA10 8515 broad.mit.edu 37 1 145536002 145536002 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:145536002G>C uc001eoa.2 + 17 2170 c.2094G>C c.(2092-2094)ATG>ATC p.M698I NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.M567I|ITGA10_uc009wiw.2_Missense_Mutation_p.M555I|ITGA10_uc010oyw.1_Missense_Mutation_p.M643I NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 698 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATTCAGACATGAGGTTCACCG 0.542 NA 30 108 0 0 0 0 TUFT1 7286 broad.mit.edu 37 1 151552206 151552206 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:151552206G>C uc001eyl.2 + 11 1068 c.1006G>C c.(1006-1008)GAG>CAG p.E336Q TUFT1_uc001eym.2_Missense_Mutation_p.E311Q|TUFT1_uc010pdf.1_Missense_Mutation_p.E355Q|TUFT1_uc010pdg.1_Missense_Mutation_p.E284Q NM_020127 NP_064512 Q9NNX1 TUFT1_HUMAN tuftelin 1 isoform 1 336 Potential. bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel 0 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TCTGGAGGCAGAGGTGTGTGT 0.532 NA 5 12 0 0 0 0 ADAR 103 broad.mit.edu 37 1 154573540 154573540 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:154573540C>T uc001ffh.2 - 2 1778 c.1578G>A c.(1576-1578)CAG>CAA p.Q526Q ADAR_uc001ffj.2_Silent_p.Q526Q|ADAR_uc001ffi.2_Silent_p.Q526Q|ADAR_uc001ffk.2_Silent_p.Q231Q|ADAR_uc001ffl.1_Silent_p.Q231Q NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 526 DRBM 1. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GTGGTCCACTCTGCTCTATCA 0.517 NA 18 97 0 0 0 0 TRIM46 80128 broad.mit.edu 37 1 155156625 155156625 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:155156625G>A uc001fhs.1 + 10 2322 c.2239G>A c.(2239-2241)GAG>AAG p.E747K RAG1AP1_uc010pey.1_Intron|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E621K|TRIM46_uc001fhu.1_Missense_Mutation_p.E724K|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 747 B30.2/SPRY. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CACTAAGCCTGAGAGGAAAGT 0.642 NA 5 23 0 0 0 0 RAB25 57111 broad.mit.edu 37 1 156038115 156038115 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:156038115G>T uc001fnc.2 + 3 520 c.294G>T c.(292-294)CAG>CAT p.Q98H NM_020387 NP_065120 P57735 RAB25_HUMAN RAB25 98 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) CCAAGCACCAGACCTATGCTG 0.547 NA 68 77 9.56e-27 1.09e-26 1 0 CD1B 910 broad.mit.edu 37 1 158300658 158300658 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:158300658C>G uc001frx.2 - 2 364 c.256G>C c.(256-258)GAG>CAG p.E86Q CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.E86Q NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 86 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) CGGAATATCTCCTCTAACTCA 0.458 NA 79 311 0 0 0 0 OR6N1 128372 broad.mit.edu 37 1 158736156 158736156 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:158736156G>T uc010piq.1 - 1 317 c.317C>A c.(316-318)TCC>TAC p.S106Y NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CGCTCCAAGGGAGTGAAAGAA 0.502 NA 12 34 5.51e-06 5.87e-06 1 0 GPR161 23432 broad.mit.edu 37 1 168059864 168059864 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:168059864C>T uc001gfc.2 - 6 1456 c.1142G>A c.(1141-1143)GGA>GAA p.G381E GPR161_uc001gfb.2_Missense_Mutation_p.G249E|GPR161_uc010pll.1_Missense_Mutation_p.G291E|GPR161_uc010plm.1_Missense_Mutation_p.G267E|GPR161_uc009wvo.2_Missense_Mutation_p.G398E|GPR161_uc001gfd.2_Missense_Mutation_p.G381E|GPR161_uc010pln.1_Missense_Mutation_p.G401E|GPR161_uc001gfe.1_Missense_Mutation_p.G381E NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 381 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) CAGGGGCTGTCCACCTGCCAT 0.597 NA 6 13 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175116116 175116116 + Missense_Mutation SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:175116116T>C uc001gkl.1 + 19 3922 c.3809T>C c.(3808-3810)GTG>GCG p.V1270A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1270 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATTCCTTACGTGGAGTTGAAA 0.522 NA OREG0013992 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 45 0 0 0 0 TDRD5 163589 broad.mit.edu 37 1 179561846 179561846 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:179561846G>C uc001gnf.1 + 2 346 c.96G>C c.(94-96)GAG>GAC p.E32D TDRD5_uc010pnp.1_Missense_Mutation_p.E32D|uc010pno.1_5'Flank NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 32 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AGGAGTTGGAGAAGGAGTACC 0.478 NA 23 106 0 0 0 0 ZNF281 23528 broad.mit.edu 37 1 200377873 200377873 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:200377873G>A uc001gve.2 - 2 1068 c.961C>T c.(961-963)CAG>TAG p.Q321* ZNF281_uc001gvf.1_Nonsense_Mutation_p.Q321*|ZNF281_uc001gvg.1_Nonsense_Mutation_p.Q285* NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 321 C2H2-type 3. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 ATGCTGCACTGATCACATCCA 0.403 NA 117 171 0 0 0 0 LGR6 59352 broad.mit.edu 37 1 202287786 202287786 + Silent SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:202287786C>G uc001gxu.2 + 18 2355 c.2355C>G c.(2353-2355)CTC>CTG p.L785L LGR6_uc001gxv.2_Silent_p.L733L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.L646L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 785 Helical; Name=6; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 ACGGGCTCCTCTACTGTCCCG 0.647 NA 13 77 0 0 0 0 REN 5972 broad.mit.edu 37 1 204124994 204124994 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:204124994A>G uc001haq.2 - 9 1057 c.1013T>C c.(1012-1014)CTG>CCG p.L338P NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 338 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TTTGCCTCCCAGGTGGAAAGA 0.572 NA 5 27 0 0 0 0 ELK4 2005 broad.mit.edu 37 1 205589519 205589519 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:205589519C>G uc001hcy.1 - 3 1905 c.655G>C c.(655-657)GAA>CAA p.E219Q ELK4_uc001hcz.2_Missense_Mutation_p.E219Q NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 219 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) ATAGTTTCTTCTGAAGATGGA 0.473 NA T SLC45A3 prostate 19 72 0 0 0 0 RASSF5 83593 broad.mit.edu 37 1 206760273 206760273 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:206760273A>G uc001hed.2 + 6 1277 c.1220A>G c.(1219-1221)GAG>GGG p.E407G RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.2_3'UTR|RASSF5_uc001hef.2_Missense_Mutation_p.E254G|RASSF5_uc001heg.1_3'UTR NM_182663 NP_872604 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family 5 407 SARAH. apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding ovary(1) 1 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CAGAAACTGGAGGAGGCCTTA 0.413 NA 3 49 0 0 0 0 INTS7 25896 broad.mit.edu 37 1 212115325 212115325 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:212115325C>T uc001hiw.1 - 20 2835 c.2730G>A c.(2728-2730)GTG>GTA p.V910V INTS7_uc009xdb.1_Silent_p.V890V|INTS7_uc001hix.1_Silent_p.V786V|INTS7_uc001hiy.1_Silent_p.V896V|INTS7_uc010pta.1_Silent_p.V861V NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 910 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TGGCATCTTTCACAGAAGATT 0.403 NA 28 103 0 0 0 0 ITPKB 3707 broad.mit.edu 37 1 226925078 226925078 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:226925078G>A uc010pvo.1 - 2 422 c.82C>T c.(82-84)CCC>TCC p.P28S ITPKB_uc001hqh.2_Missense_Mutation_p.P28S NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 28 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) CTGCCACTGGGCCCCGGGCCG 0.672 NA 9 11 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17147564 17147564 + Silent SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:17147564A>T uc001ioo.2 - 11 1174 c.1122T>A c.(1120-1122)CCT>CCA p.P374P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 374 EGF-like 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACGTGCAGAGAGGTAAGGAAC 0.443 NA 19 28 0 0 0 0 VIM 7431 broad.mit.edu 37 10 17278348 17278348 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:17278348G>A uc001iou.2 + 9 1742 c.1329G>A c.(1327-1329)CTG>CTA p.L443L VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.L443L|VIM_uc001ioy.1_Silent_p.L356L|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.L401L|VIM_uc001ipc.1_Intron NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 443 Tail. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GGACACTTCTGATTAAGACGG 0.348 NA 63 117 0 0 0 0 ENKUR 219670 broad.mit.edu 37 10 25284722 25284722 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:25284722C>T uc001isg.1 - 3 465 c.300G>A c.(298-300)CAG>CAA p.Q100Q ENKUR_uc001ish.1_Silent_p.Q38Q NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 100 cilium|flagellum calmodulin binding|SH3 domain binding 0 TTTTTCCACTCTGTATTCCCA 0.358 NA 27 94 0 0 0 0 ZNF239 8187 broad.mit.edu 37 10 44052584 44052584 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:44052584C>G uc001jaw.3 - 2 1597 c.944G>C c.(943-945)GGA>GCA p.G315A ZNF239_uc001jax.3_Missense_Mutation_p.G315A|ZNF239_uc009xmj.2_Missense_Mutation_p.G315A|ZNF239_uc009xmk.2_Missense_Mutation_p.G315A NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 GGGCTTCTCTCCAGTGTGGAC 0.522 NA 15 68 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968896 64968896 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:64968896G>T uc001jmn.2 - 9 3094 c.2794C>A c.(2794-2796)CCT>ACT p.P932T JMJD1C_uc001jml.2_Missense_Mutation_p.P713T|JMJD1C_uc001jmm.2_Missense_Mutation_p.P644T|JMJD1C_uc010qiq.1_Missense_Mutation_p.P750T|JMJD1C_uc009xpi.2_Missense_Mutation_p.P750T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_5'Flank NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 932 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GGCCGATGAGGCTCTGCACTG 0.443 NA 57 44 2.21e-31 2.53e-31 1 0 HTR7 3363 broad.mit.edu 37 10 92508597 92508598 + Silent DNP GC GC AA TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:92508597_92508598GC>AA uc001kha.2 - 2 1536_1537 c.1293_1294GC>TT c.(1291-1296)GTGCTG>GTTTTG p.431_432VL>VL HTR7_uc001kgz.2_Silent_p.431_432VL>VL|HTR7_uc001khb.2_Silent_p.431_432VL>VL NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 431_432 Cytoplasmic (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TGACCTTACAGCACAAACTCAG 0.48 NA 45 108 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95892095 95892095 + Silent SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:95892095C>G uc001kjk.2 + 3 2005 c.1371C>G c.(1369-1371)CTC>CTG p.L457L PLCE1_uc010qnx.1_Silent_p.L457L|PLCE1_uc001kjm.2_Silent_p.L149L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 457 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GCGCCACCCTCCAAAGGACTT 0.517 NA 65 64 0 0 0 0 C10orf84 63877 broad.mit.edu 37 10 120094625 120094625 + Splice_Site SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:120094625C>A uc001ldo.2 - 6 720 c.453_splice c.e6+1 p.K151_splice C10orf84_uc010qss.1_Splice_Site_p.K151_splice NM_022063 NP_071346 Q9H8W3 F204A_HUMAN hypothetical protein LOC63877 0 Colorectal(252;0.101) all cancers(201;0.0244) AAAGATATTACCTTCTCAACT 0.363 NA 6 51 0.00307968 0.00316752 1 0 KNDC1 85442 broad.mit.edu 37 10 135020757 135020757 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:135020757C>T uc001llz.1 + 20 3697 c.3696C>T c.(3694-3696)CTC>CTT p.L1232L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1232 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTCCTCGCTCATCTTCTACA 0.677 NA 12 60 0 0 0 0 OR51G1 79324 broad.mit.edu 37 11 4944942 4944942 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:4944942C>T uc010qyr.1 - 1 628 c.628G>A c.(628-630)GGT>AGT p.G210S NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGTCCACACCCACGGTGCAG 0.552 NA 8 28 0 0 0 0 ELP4 26610 broad.mit.edu 37 11 31625408 31625408 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:31625408T>G uc001mtb.2 + 5 642 c.607T>G c.(607-609)TTT>GTT p.F203V ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.F203V|ELP4_uc010rdz.1_Missense_Mutation_p.F204V NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 203 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) TTGGCATGGATTTTTTCTTCC 0.328 NA 21 58 0 0 0 0 OR8H2 390151 broad.mit.edu 37 11 55872567 55872567 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:55872567G>A uc010riy.1 + 1 49 c.49G>A c.(49-51)GGA>AGA p.G17R NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CATCCTTATGGGACTGACACT 0.408 NA HNSCC(53;0.14) 28 124 0 0 0 0 SSRP1 6749 broad.mit.edu 37 11 57100270 57100270 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:57100270G>A uc001njt.2 - 6 864 c.597C>T c.(595-597)ATC>ATT p.I199I SSRP1_uc010rjq.1_Silent_p.I199I NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 199 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 GGAAGATGCAGATGGCATCTC 0.537 NA 8 32 0 0 0 0 TMEM109 79073 broad.mit.edu 37 11 60689394 60689394 + Silent SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:60689394G>C uc001nqg.2 + 4 867 c.489G>C c.(487-489)CTG>CTC p.L163L TMEM109_uc001nqh.2_Silent_p.L163L|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank NM_024092 NP_076997 Q9BVC6 TM109_HUMAN transmembrane protein 109 precursor 163 Helical; (Potential). integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane 0 TGTGGGGCCTGAAGCTTGTCA 0.652 NA 25 88 0 0 0 0 STIP1 10963 broad.mit.edu 37 11 63965417 63965417 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:63965417A>G uc001nyk.1 + 8 1141 c.994A>G c.(994-996)ACC>GCC p.T332A STIP1_uc010rnb.1_Missense_Mutation_p.T308A NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 332 TPR 6. axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 AGAGCACCGAACCCCAGATGT 0.403 NA 5 155 0 0 0 0 EHD1 10938 broad.mit.edu 37 11 64645866 64645866 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:64645866C>A uc001obu.1 - 1 326 c.71G>T c.(70-72)GGG>GTG p.G24V EHD1_uc001obv.1_Missense_Mutation_p.G24V|EHD1_uc010rnq.1_Missense_Mutation_p.G38V NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN EH-domain containing 1 24 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding 0 CTGCCGCAGCCCCTCAGCCAC 0.582 NA 16 19 2.89e-11 3.17e-11 1 0 DPP3 10072 broad.mit.edu 37 11 66272197 66272197 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:66272197C>T uc001oig.1 + 17 2055 c.1993C>T c.(1993-1995)CGT>TGT p.R665C DPP3_uc001oif.1_Missense_Mutation_p.R665C|DPP3_uc010rpe.1_Missense_Mutation_p.R654C|DPP3_uc001oih.1_Silent_p.C32C NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 665 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 GGTGCTGCTGCGTAAGGAATC 0.592 NA 19 71 0 0 0 0 CCND1 595 broad.mit.edu 37 11 69466006 69466006 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:69466006G>C uc001opa.2 + 5 1053 c.844G>C c.(844-846)GAC>CAC p.D282H NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 282 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) ggaggaggtggaCCTGGCTTG 0.612 NA T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 8 4 0 0 0 0 ZNF202 7753 broad.mit.edu 37 11 123601372 123601372 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:123601372C>T uc001pzd.1 - 4 625 c.225G>A c.(223-225)CTG>CTA p.L75L ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Silent_p.L75L|ZNF202_uc001pzf.1_Silent_p.L75L NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 75 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TCTCTGGTCTCAGCCACTGGT 0.562 NA 19 48 0 0 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126276890 126276890 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:126276890G>A uc001qds.2 + 4 373 c.154G>A c.(154-156)GAG>AAG p.E52K ST3GAL4_uc001qdt.2_Missense_Mutation_p.E48K|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Missense_Mutation_p.E41K|ST3GAL4_uc001qdu.2_Missense_Mutation_p.E48K|ST3GAL4_uc001qdv.2_Missense_Mutation_p.E52K|ST3GAL4_uc009zce.2_Missense_Mutation_p.E48K|ST3GAL4_uc001qdw.2_Missense_Mutation_p.E41K|ST3GAL4_uc001qdx.1_Missense_Mutation_p.E41K|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'Flank NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 52 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) GGGTGAGGCAGAGAGCAAGGC 0.542 NA 15 49 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790784 133790784 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:133790784G>C uc001qgx.3 - 18 3067 c.2836C>G c.(2836-2838)CGG>GGG p.R946G NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 946 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCCTGAAGCCGACCTTCCAGG 0.697 NA 14 25 0 0 0 0 C12orf4 57102 broad.mit.edu 37 12 4643433 4643433 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:4643433C>G uc001qms.2 - 3 302 c.214G>C c.(214-216)GAA>CAA p.E72Q C12orf4_uc001qmt.2_Missense_Mutation_p.E72Q NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 72 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CTGAGGGATTCTTCTTCTATA 0.423 NA 11 32 0 0 0 0 DNM1L 10059 broad.mit.edu 37 12 32890803 32890803 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:32890803C>G uc001rld.2 + 15 1762 c.1601C>G c.(1600-1602)TCT>TGT p.S534C DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Missense_Mutation_p.S600C|DNM1L_uc001rlg.2_Missense_Mutation_p.S600C|DNM1L_uc001rlh.2_Missense_Mutation_p.S587C|DNM1L_uc010ski.1_Missense_Mutation_p.S331C NM_012062 NP_036192 O00429 DNM1L_HUMAN dynamin 1-like isoform 1 534 Interaction with GSK3B.|B domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTTTAGTCTTCTAAAGTTCCA 0.433 NA 10 39 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49433388 49433388 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:49433388G>A uc001rta.3 - 32 8059 c.8059C>T c.(8059-8061)CGA>TGA p.R2687* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2687 Potential.|LXXLL motif 1. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGCAGCTCTCGTAGTCGCTGG 0.572 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 10 15 0 0 0 0 AQP6 363 broad.mit.edu 37 12 50367243 50367243 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:50367243C>G uc001rvr.1 + 1 624 c.287C>G c.(286-288)TCT>TGT p.S96C AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 96 Cytoplasmic (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 TCCCACATCTCTCTGCCCCGT 0.677 NA 15 37 0 0 0 0 KRT6A 3853 broad.mit.edu 37 12 52884660 52884660 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:52884660C>T uc001sam.2 - 4 1103 c.894G>A c.(892-894)CTG>CTA p.L298L NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 298 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) ACAAGGCTCTCAGGAAGTTGA 0.488 NA 13 79 0 0 0 0 OR6C4 341418 broad.mit.edu 37 12 55945429 55945429 + Missense_Mutation SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:55945429T>C uc010spp.1 + 1 419 c.419T>C c.(418-420)ATA>ACA p.I140T NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGAGTCTGCATACAACTAGTG 0.468 NA 13 107 0 0 0 0 DPY19L2 283417 broad.mit.edu 37 12 64055144 64055144 + Missense_Mutation SNP G G A rs140337663 TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:64055144G>A uc001srp.1 - 4 749 c.568C>T c.(568-570)CGC>TGC p.R190C DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 190 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AGATGGAAGCGTTTTATTGCA 0.333 NA 21 69 0 0 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640336 99640336 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:99640336C>A uc001tge.1 - 13 2480 c.2063G>T c.(2062-2064)GGC>GTC p.G688V ANKS1B_uc001tgf.1_Missense_Mutation_p.G268V|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G654V NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 688 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGATCTTGTGCCAACAATGGT 0.433 NA 8 38 0.00307968 0.00316752 1 0 BRAP 8315 broad.mit.edu 37 12 112097072 112097072 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:112097072C>T uc001tsn.3 - 8 1244 c.1050G>A c.(1048-1050)GAG>GAA p.E350E BRAP_uc010syh.1_Silent_p.E171E|BRAP_uc009zvv.2_Silent_p.E320E NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 350 UBP-type. MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 GCTGCGTTTCCTCAAAGTGCT 0.448 NA 9 69 0 0 0 0 WDR66 144406 broad.mit.edu 37 12 122413157 122413157 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:122413157G>A uc009zxk.2 + 18 2921 c.2779G>A c.(2779-2781)GAG>AAG p.E927K NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 927 WD 9. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CAGTGTCCTGGAGGCAGCGGT 0.527 NA 11 39 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124812114 124812114 + Missense_Mutation SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:124812114T>C uc010tay.1 - 47 7210 c.7054A>G c.(7054-7056)ATA>GTA p.I2352V NCOR2_uc010taz.1_Missense_Mutation_p.I2336V|NCOR2_uc010tax.1_Intron NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2353 CORNR box of ID2. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTTCTAATTATGGCCTCCAGC 0.488 NA 16 23 0 0 0 0 ZNF10 7556 broad.mit.edu 37 12 133732548 133732548 + Missense_Mutation SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:133732548A>T uc009zzb.2 + 5 1163 c.716A>T c.(715-717)AAA>ATA p.K239I ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.K239I NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 239 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAATCCTACAAATGCCCTGAT 0.373 NA 27 48 0 0 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050182 36050182 + Silent SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr13:36050182G>T uc001uvc.2 - 1 651 c.94C>A c.(94-96)CGG>AGG p.R32R NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 32 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CAGACTTCCCGGATAGTTTTG 0.512 NA 18 73 1.38e-19 1.55e-19 1 0 SLITRK6 84189 broad.mit.edu 37 13 86369500 86369500 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr13:86369500C>A uc001vll.1 - 2 1603 c.1144G>T c.(1144-1146)GAT>TAT p.D382Y SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 382 Extracellular (Potential).|LRR 6. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCCACTAGATCAGACTTCATT 0.378 NA 32 46 1.07e-11 1.18e-11 1 0 ATP11A 23250 broad.mit.edu 37 13 113439521 113439521 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr13:113439521G>C uc001vsi.3 + 2 200 c.112G>C c.(112-114)GAG>CAG p.E38Q ATP11A_uc001vsj.3_Missense_Mutation_p.E38Q|ATP11A_uc001vsm.1_5'UTR NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 38 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCCGGGCGCAGAGGCCTACAT 0.557 NA OREG0003855 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 74 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113464990 113464990 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr13:113464990C>A uc001vsi.3 + 5 479 c.391C>A c.(391-393)CAT>AAT p.H131N ATP11A_uc001vsj.3_Missense_Mutation_p.H131N|ATP11A_uc001vsm.1_Missense_Mutation_p.H7N NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 131 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GTGTCCTGTTCATTTCATTCA 0.323 NA 18 124 8.01e-06 8.52e-06 1 0 MDGA2 161357 broad.mit.edu 37 14 47426600 47426600 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr14:47426600C>T uc001wwj.3 - 9 2055 c.1859G>A c.(1858-1860)GGG>GAG p.G620E MDGA2_uc001wwi.3_Missense_Mutation_p.G391E|MDGA2_uc010ani.2_Missense_Mutation_p.G180E NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 620 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GCTGCATCTCCCAGCTCCAGC 0.358 NA 17 35 0 0 0 0 NID2 22795 broad.mit.edu 37 14 52535538 52535538 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr14:52535538C>A uc001wzo.2 - 1 409 c.175G>T c.(175-177)GTG>TTG p.V59L NID2_uc010tqs.1_Missense_Mutation_p.V59L|NID2_uc010tqt.1_Missense_Mutation_p.V59L|NID2_uc001wzp.2_Missense_Mutation_p.V59L NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 59 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GCCAGCTTCACCACGGCTGAG 0.637 NA 22 37 2.49e-11 2.74e-11 1 0 MLH3 27030 broad.mit.edu 37 14 75485569 75485569 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr14:75485569G>T uc001xrd.1 - 12 4421 c.4205C>A c.(4204-4206)CCG>CAG p.P1402Q MLH3_uc001xre.1_Missense_Mutation_p.P1378Q NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 1402 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) GTCAGCTAACGGCAGCATAGA 0.468 NA MMR 25 38 6.13e-19 6.89e-19 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412107 105412107 + Silent SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr14:105412107G>C uc010axc.1 - 7 9801 c.9681C>G c.(9679-9681)CCC>CCG p.P3227P AHNAK2_uc001ypx.2_Silent_p.P3127P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3227 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTGCAACTTGGGCAGGTGCC 0.617 NA 34 389 0 0 0 0 SLC12A6 9990 broad.mit.edu 37 15 34538068 34538068 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:34538068C>A uc001zhw.2 - 13 1814 c.1650G>T c.(1648-1650)AAG>AAT p.K550N SLC12A6_uc001zhv.2_Missense_Mutation_p.K499N|SLC12A6_uc001zhx.2_Missense_Mutation_p.K535N|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.K491N|SLC12A6_uc001zib.2_Missense_Mutation_p.K541N|SLC12A6_uc001zic.2_Missense_Mutation_p.K550N|SLC12A6_uc010bau.2_Missense_Mutation_p.K550N|SLC12A6_uc001zid.2_Missense_Mutation_p.K491N|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.K362N NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 550 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CATCACCGAACCTGGGAAAGA 0.373 NA 7 13 0.00198382 0.00204727 1 0 FBN1 2200 broad.mit.edu 37 15 48892392 48892392 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:48892392C>T uc001zwx.1 - 5 714 c.386G>A c.(385-387)TGC>TAC p.C129Y NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 129 EGF-like 2. C -> Y (in MFS; severe neonatal). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATCGTCACTGCAGCTACCTCC 0.378 NA 52 21 0 0 0 0 KIAA1370 56204 broad.mit.edu 37 15 52903845 52903845 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:52903845C>T uc002acg.3 - 4 484 c.331G>A c.(331-333)GAT>AAT p.D111N KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D23N|KIAA1370_uc010ugf.1_Missense_Mutation_p.D118N NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 111 0 all cancers(107;0.0803) TCATTTAGATCAATTCCCTCT 0.428 NA 14 39 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54914565 54914565 + Silent SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:54914565T>C uc002ack.2 + 29 6147 c.6147T>C c.(6145-6147)CAT>CAC p.H2049H UNC13C_uc002acm.2_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2049 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATCTGTTCATGTGGACATCA 0.428 NA 61 18 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65490839 65490839 + Silent SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:65490839T>C uc002aon.2 - 9 1966 c.1785A>G c.(1783-1785)GAA>GAG p.E595E NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 595 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CCATGGGGTCTTCACCAACCA 0.522 NA 29 57 0 0 0 0 CLK3 1198 broad.mit.edu 37 15 74922109 74922109 + Nonsense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:74922109T>G uc010uln.1 + 13 2263 c.1802T>G c.(1801-1803)TTA>TGA p.L601* CLK3_uc002ayg.3_Nonsense_Mutation_p.L453*|CLK3_uc002ayh.3_Nonsense_Mutation_p.L232*|CLK3_uc002ayj.3_Nonsense_Mutation_p.L430*|CLK3_uc002ayk.3_Nonsense_Mutation_p.L380*|CLK3_uc002ayl.3_Nonsense_Mutation_p.L286* NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 601 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 AGGAGGATGTTAGAATTTGAC 0.607 NA 22 5 0 0 0 0 NR2F2 7026 broad.mit.edu 37 15 96875642 96875642 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:96875642T>G uc010uri.1 + 1 1532 c.308T>G c.(307-309)TTC>TGC p.F103C NR2F2_uc002btp.2_Intron|NR2F2_uc010urj.1_5'Flank|MIR1469_hsa-mir-1469|MI0007074_5'Flank|NR2F2_uc010urk.1_5'Flank NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 103 Nuclear receptor. lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) AAGAGCTTCTTCAAGCGCAGC 0.622 NA 6 11 0 0 0 0 ALDH1A3 220 broad.mit.edu 37 15 101445832 101445832 + Silent SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr15:101445832C>G uc002bwn.3 + 10 1277 c.1173C>G c.(1171-1173)CTC>CTG p.L391L ALDH1A3_uc010bpb.2_Silent_p.L284L|uc002bwo.1_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 391 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ACAAGGGGCTCTTCATCAAAC 0.537 NA 4 26 0 0 0 0 E4F1 1877 broad.mit.edu 37 16 2273707 2273707 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr16:2273707G>A uc002cpm.2 + 1 141 c.93G>A c.(91-93)GCG>GCA p.A31A E4F1_uc010bsi.2_Silent_p.A31A|E4F1_uc010bsj.2_Silent_p.A31A NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 31 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GTGCAGTTGCGGCGGTGGCGG 0.751 NA 7 2 0 0 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844640 28844640 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr16:28844640C>T uc002drc.2 + 14 2088 c.1920C>T c.(1918-1920)ATC>ATT p.I640I uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.I616I|ATXN2L_uc002drb.2_Silent_p.I640I|ATXN2L_uc002dqy.2_Silent_p.I640I|ATXN2L_uc002dra.2_Silent_p.I640I|ATXN2L_uc002dqz.2_Silent_p.I640I|ATXN2L_uc010vdb.1_Silent_p.I646I|ATXN2L_uc002dre.2_Silent_p.I640I|ATXN2L_uc002drf.2_Silent_p.I49I|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 640 membrane upper_aerodigestive_tract(1)|ovary(1) 2 TGGGCCTCATCAAGGGAGAAG 0.622 NA 18 46 0 0 0 0 TBX6 6911 broad.mit.edu 37 16 30100461 30100461 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr16:30100461C>G uc010veh.1 - 4 484 c.424G>C c.(424-426)GAT>CAT p.D142H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.D142H NM_004608 NP_004599 O95947 TBX6_HUMAN T-box 6 142 T-box. anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GGAATCACATCCAGAAGAAAC 0.662 NA 17 72 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57973358 57973358 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr16:57973358C>T uc002emt.2 - 16 1413 c.1348G>A c.(1348-1350)GAG>AAG p.E450K CNGB1_uc010cdh.2_Missense_Mutation_p.E444K NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 450 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 GCCTCGGCCTCAGCCTCAGGc 0.328 NA 7 26 0 0 0 0 CENPN 55839 broad.mit.edu 37 16 81061821 81061821 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr16:81061821G>A uc002ffx.2 + 10 1646 c.856G>A c.(856-858)GAG>AAG p.E286K CENPN_uc010vnl.1_Missense_Mutation_p.E252K|CENPN_uc010vnm.1_Missense_Mutation_p.E266K|CENPN_uc002ffy.3_Missense_Mutation_p.E286K NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 286 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 CATCTTGGCTGAGAGGGAAGA 0.403 NA 11 49 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81183305 81183305 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr16:81183305C>G uc002fgh.1 - 28 4743 c.4743G>C c.(4741-4743)AAG>AAC p.K1581N PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1581 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCAAGTCCATCTTTTGCTCAG 0.557 NA 5 19 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7736073 7736073 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:7736073C>T uc002giu.1 + 82 12917 c.12903C>T c.(12901-12903)AAC>AAT p.N4301N NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4301 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCCAAAACAACGTGAGCAATG 0.557 NA 172 43 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10433049 10433049 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:10433049G>T uc010coi.2 - 24 3077 c.2949C>A c.(2947-2949)AAC>AAA p.N983K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.N983K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 983 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTTCTGTGAGGTTTTTCACCT 0.473 NA 90 87 2.69e-43 3.08e-43 1 0 NCOR1 9611 broad.mit.edu 37 17 16068406 16068406 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:16068406G>C uc002gpo.2 - 5 745 c.505C>G c.(505-507)CAA>GAA p.Q169E NCOR1_uc002gpn.2_Missense_Mutation_p.Q169E|NCOR1_uc002gpp.1_Missense_Mutation_p.Q60E|NCOR1_uc002gpr.2_Missense_Mutation_p.Q60E|NCOR1_uc002gps.1_Missense_Mutation_p.Q169E|NCOR1_uc010coz.1_Translation_Start_Site|NCOR1_uc010cpb.1_Missense_Mutation_p.Q169E|NCOR1_uc010cpa.1_Missense_Mutation_p.Q169E|NCOR1_uc002gpu.2_Missense_Mutation_p.Q169E NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 169 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAAGCATTTTGATCATCTCCA 0.393 NA 10 76 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 16068472 16068472 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:16068472G>A uc002gpo.2 - 5 679 c.439C>T c.(439-441)CCA>TCA p.P147S NCOR1_uc002gpn.2_Missense_Mutation_p.P147S|NCOR1_uc002gpp.1_Missense_Mutation_p.P38S|NCOR1_uc002gpr.2_Missense_Mutation_p.P38S|NCOR1_uc002gps.1_Missense_Mutation_p.P147S|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.P147S|NCOR1_uc010cpa.1_Missense_Mutation_p.P147S|NCOR1_uc002gpu.2_Missense_Mutation_p.P147S NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 147 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CCGAATGCTGGATCCTTTAGA 0.393 NA 8 72 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18062990 18062990 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:18062990G>A uc010vxh.1 + 54 9638 c.9300G>A c.(9298-9300)CTG>CTA p.L3100L MYO15A_uc010vxi.1_Silent_p.L364L|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Silent_p.L89L|MYO15A_uc002gsl.2_Silent_p.L22L|MYO15A_uc010vxm.1_Silent_p.L22L|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.2_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3100 Tail.|MyTH4 2. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GTAACCTCCTGAAGGTCAGTC 0.532 NA 8 28 0 0 0 0 CDK12 51755 broad.mit.edu 37 17 37627593 37627593 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:37627593C>G uc010cvv.2 + 2 2094 c.1508C>G c.(1507-1509)TCT>TGT p.S503C CDK12_uc010wef.1_Missense_Mutation_p.S502C|CDK12_uc002hrw.3_Missense_Mutation_p.S503C NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 503 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 ACAAGAGACTCTAAACCCATA 0.428 NA TCGA Ovarian(9;0.13) 26 111 0 0 0 0 NMT1 4836 broad.mit.edu 37 17 43159057 43159057 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:43159057G>C uc002ihz.2 + 2 195 c.177G>C c.(175-177)AAG>AAC p.K59N NMT1_uc010dac.1_Intron|NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 59 Poly-Lys. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) agaagaaaaagaaacaaaaaa 0.343 NA 5 28 0 0 0 0 ABCA5 23461 broad.mit.edu 37 17 67287394 67287394 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:67287394C>T uc002jif.2 - 11 2787 c.1569G>A c.(1567-1569)TTG>TTA p.L523L ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.L523L|ABCA5_uc002jih.2_Silent_p.L523L|ABCA5_uc010dfe.2_Silent_p.L523L NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 523 ABC transporter 1. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GAATATTCATCAATGTACTCT 0.338 NA 10 46 0 0 0 0 KIF19 124602 broad.mit.edu 37 17 72348997 72348997 + Nonsense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:72348997C>G uc002jkm.3 + 15 2156 c.2018C>G c.(2017-2019)TCA>TGA p.S673* NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 673 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GCAGGAACCTCACTGACCCCA 0.567 NA 17 91 0 0 0 0 AFMID 125061 broad.mit.edu 37 17 76187113 76187113 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:76187113G>C uc002jva.3 + 2 141 c.126G>C c.(124-126)TTG>TTC p.L42F AFMID_uc002juy.3_RNA|AFMID_uc010dhj.2_Missense_Mutation_p.L42F|AFMID_uc002jvb.3_Missense_Mutation_p.L42F|AFMID_uc002juz.3_Missense_Mutation_p.L42F NM_001010982 NP_001010982 Q63HM1 AFMID_HUMAN arylformamidase isoform 1 42 cytosol|nucleus arylformamidase activity large_intestine(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) AGGAAGCCTTGAGGACCTACT 0.542 NA 4 12 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78032313 78032313 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:78032313A>G uc010dht.2 + 8 1207 c.1180A>G c.(1180-1182)ATG>GTG p.M394V CCDC40_uc010wub.1_Missense_Mutation_p.M394V|CCDC40_uc002jxm.3_Missense_Mutation_p.M177V NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 394 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCAGACTGAGATGGAGAACTT 0.602 NA 8 37 0 0 0 0 NPLOC4 55666 broad.mit.edu 37 17 79534533 79534533 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:79534533C>A uc002kat.3 - 15 1658 c.1476G>T c.(1474-1476)TTG>TTT p.L492F NPLOC4_uc002kau.3_Missense_Mutation_p.L492F|NPLOC4_uc010wur.1_Missense_Mutation_p.L331F|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Missense_Mutation_p.C16F NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 492 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TATTCTGAGACAAATAGGTGG 0.478 NA 6 9 0.00116845 0.00121194 1 0 HGS 9146 broad.mit.edu 37 17 79667588 79667588 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:79667588C>T uc002kbg.2 + 19 2051 c.1974C>T c.(1972-1974)CCC>CCT p.P658P MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 658 Interaction with NF2.|Gln-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CCGCCAGCCCCGCTTACTCAT 0.587 NA 54 7 0 0 0 0 THOC4 10189 broad.mit.edu 37 17 79847182 79847182 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr17:79847182C>T uc002kbu.2 - 3 420 c.414G>A c.(412-414)ACG>ACA p.T138T ANAPC11_uc002kbv.1_5'Flank|ANAPC11_uc002kbw.1_5'Flank|ANAPC11_uc002kbx.1_5'Flank|ANAPC11_uc002kby.1_5'Flank|ANAPC11_uc002kbz.1_5'Flank|ANAPC11_uc002kca.1_5'Flank|ANAPC11_uc002kcb.1_5'Flank|ANAPC11_uc002kcc.1_5'Flank NM_005782 NP_005773 Q86V81 THOC4_HUMAN THO complex 4 131 RRM.|Ala/Arg/Gly-rich. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCTTCTTCAGCGTTCCAAATT 0.547 NA 47 15 0 0 0 0 TGIF1 7050 broad.mit.edu 37 18 3456381 3456381 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr18:3456381G>C uc002klz.2 + 2 820 c.433G>C c.(433-435)GAG>CAG p.E145Q TGIF1_uc002klu.2_5'UTR|TGIF1_uc002klv.2_Missense_Mutation_p.E30Q|TGIF1_uc002klx.2_5'UTR|TGIF1_uc002klw.2_Missense_Mutation_p.E16Q|TGIF1_uc010dkm.1_Missense_Mutation_p.E16Q|TGIF1_uc002kly.2_Missense_Mutation_p.E16Q|TGIF1_uc002kma.2_5'UTR|TGIF1_uc002kmb.2_5'UTR|TGIF1_uc002kmc.2_5'UTR NM_170695 NP_733796 Q15583 TGIF1_HUMAN TG-interacting factor isoform a 145 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) CAGTGAGACTGAGGATGAGGA 0.502 NA 6 563 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14542916 14542916 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr18:14542916G>T uc010dln.2 - 1 684 c.230C>A c.(229-231)ACG>AAG p.T77K POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 77 skin(3) 3 CACGTTGCTCGTGCCGCTCCC 0.577 NA 9 210 6.32e-08 6.82e-08 1 0 KIAA1012 22878 broad.mit.edu 37 18 29450923 29450923 + Silent SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr18:29450923T>C uc002kxc.3 - 15 2587 c.2223A>G c.(2221-2223)TCA>TCG p.S741S KIAA1012_uc002kxb.3_Silent_p.S687S|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 741 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TTGAATTATCTGAGTAACTGT 0.328 NA 9 9 0 0 0 0 CXXC1 30827 broad.mit.edu 37 18 47812911 47812911 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr18:47812911C>G uc002leq.3 - 3 954 c.221G>C c.(220-222)AGA>ACA p.R74T CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.R74T|CXXC1_uc010doy.2_Missense_Mutation_p.R74T|CXXC1_uc002les.2_Missense_Mutation_p.R74T NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 74 PHD-type. histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GCCCTCACCTCTGCACTCCCG 0.592 NA 20 43 0 0 0 0 TXNL1 9352 broad.mit.edu 37 18 54285302 54285302 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr18:54285302T>G uc002lgg.2 - 4 674 c.425A>C c.(424-426)GAT>GCT p.D142A TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.D142A|TXNL1_uc002lgj.1_Missense_Mutation_p.D142A NM_004786 NP_004777 O43396 TXNL1_HUMAN thioredoxin-like 1 142 PITH. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity 0 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TCCATGCTCATCACTTTCATT 0.353 NA 17 31 0 0 0 0 ZNF516 9658 broad.mit.edu 37 18 74154474 74154474 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr18:74154474G>A uc010dqx.1 - 2 772 c.537C>T c.(535-537)TGC>TGT p.C179C ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 179 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) ACTGGCTCTTGCAGAAGGAGC 0.672 NA 4 19 0 0 0 0 NCLN 56926 broad.mit.edu 37 19 3192652 3192652 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:3192652C>T uc002lxi.2 + 2 523 c.369C>T c.(367-369)GTC>GTT p.V123V NCLN_uc002lxh.1_RNA NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 123 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGGACGTCGTCCGGGTGA 0.592 NA 7 15 0 0 0 0 DAPK3 1613 broad.mit.edu 37 19 3964692 3964692 + Silent SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:3964692G>C uc002lzc.1 - 2 453 c.360C>G c.(358-360)CTC>CTG p.L120L DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.L120L NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 120 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GGATCTGCTTGAGGAACTGGG 0.632 NA 27 66 0 0 0 0 PPAN 56342 broad.mit.edu 37 19 10221801 10221801 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:10221801G>A uc002mmz.1 + 12 1488 c.1382G>A c.(1381-1383)CGA>CAA p.R461Q PPAN-P2RY11_uc010xla.1_Intron|PPAN-P2RY11_uc002mna.2_Intron|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mnb.1_Missense_Mutation_p.R408Q NM_020230 NP_064615 Q9NQ55 SSF1_HUMAN peter pan homolog 461 RNA splicing nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GATGGTGGGCGAGGCCGGGGC 0.697 NA 4 7 0 0 0 0 LDLR 3949 broad.mit.edu 37 19 11233896 11233896 + Silent SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:11233896A>G uc002mqk.3 + 15 2355 c.2187A>G c.(2185-2187)CTA>CTG p.L729L LDLR_uc010xlk.1_Silent_p.L729L|LDLR_uc010xll.1_Silent_p.L688L|LDLR_uc010xlm.1_Silent_p.L582L|LDLR_uc010xln.1_Silent_p.L551L|LDLR_uc010xlo.1_Silent_p.L561L NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 729 Clustered O-linked oligosaccharides.|Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CCGTCAGGCTAAAGGTCAGCT 0.612 NA 14 47 0 0 0 0 CCDC105 126402 broad.mit.edu 37 19 15132719 15132719 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:15132719G>A uc002nae.2 + 6 1338 c.1239G>A c.(1237-1239)GCG>GCA p.A413A NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 413 microtubule cytoskeleton organization microtubule ovary(1) 1 CGGAGGCTGCGCGCCTCGCAC 0.617 NA 26 16 0 0 0 0 CASP14 23581 broad.mit.edu 37 19 15164426 15164426 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:15164426G>C uc010dzv.1 + 3 469 c.161G>C c.(160-162)AGA>ACA p.R54T CASP14_uc002naf.2_Missense_Mutation_p.R54T NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 54 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 ACCATGAAAAGAGACCCCACT 0.537 NA 17 60 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17086829 17086829 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:17086829G>A uc002nfb.2 - 16 2064 c.2032C>T c.(2032-2034)CGG>TGG p.R678W NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 631 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GGAGTCAGCCGGAACCCAGAC 0.602 NA 12 11 0 0 0 0 SF4 57794 broad.mit.edu 37 19 19431288 19431288 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:19431288G>A uc002nmh.2 - 1 20 c.18C>T c.(16-18)GAC>GAT p.D6D SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA|KIAA0892_uc002nmk.3_5'Flank NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 6 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 CATCCCGGTTGTCCATCTTGA 0.632 NA 24 41 0 0 0 0 ZNF257 113835 broad.mit.edu 37 19 22271115 22271115 + Missense_Mutation SNP T T A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:22271115T>A uc010ecx.2 + 4 732 c.563T>A c.(562-564)CTA>CAA p.L188Q ZNF257_uc010ecy.2_Missense_Mutation_p.L156Q NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 188 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) CTTTCACAACTAACTCGACAT 0.338 NA 4 18 0 0 0 0 ZNF780A 284323 broad.mit.edu 37 19 40582009 40582009 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:40582009C>G uc002omy.2 - 6 565 c.340G>C c.(340-342)GAG>CAG p.E114Q ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E114Q|ZNF780A_uc010xvh.1_Missense_Mutation_p.E115Q NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TAAAAGGCCTCAATGCCAAGA 0.328 NA 35 17 0 0 0 0 GRIK5 2901 broad.mit.edu 37 19 42557775 42557775 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:42557775G>A uc002osj.1 - 10 1283 c.1248C>T c.(1246-1248)ACC>ACT p.T416T GRIK5_uc010eib.1_Silent_p.T335T NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 416 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) TGACCACCAGGGTCTTGTTGG 0.622 NA 11 32 0 0 0 0 PSG8 440533 broad.mit.edu 37 19 43269720 43269720 + Nonsense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:43269720G>C uc002ouo.2 - 1 112 c.14C>G c.(13-15)TCA>TGA p.S5* PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_5'UTR|PSG8_uc002ouh.2_Nonsense_Mutation_p.S5*|PSG8_uc010ein.2_Nonsense_Mutation_p.S5*|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 5 extracellular region 0 Prostate(69;0.00899) GGGAGGGGCTGAGAGGAGCCC 0.592 NA 18 62 0 0 0 0 MARK4 57787 broad.mit.edu 37 19 45783855 45783855 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:45783855C>T uc002pbb.1 + 12 1144 c.1139C>T c.(1138-1140)CCA>CTA p.P380L MARK4_uc002paz.1_3'UTR|MARK4_uc002pba.1_Missense_Mutation_p.P380L|MARK4_uc002pbc.1_Missense_Mutation_p.P246L Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 380 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CGGGGCGCCCCAGGGCTGGCC 0.677 NA 11 49 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575952 47575952 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:47575952C>T uc002pga.3 - 12 1497 c.1459G>A c.(1459-1461)GAA>AAA p.E487K ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 487 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) GCACCTGCTTCTGCATCATCG 0.587 NA 8 15 0 0 0 0 VRK3 51231 broad.mit.edu 37 19 50496192 50496192 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:50496192G>C uc002prg.2 - 10 986 c.888C>G c.(886-888)TTC>TTG p.F296L VRK3_uc002prh.1_Missense_Mutation_p.F296L|VRK3_uc002pri.1_Missense_Mutation_p.F246L|VRK3_uc010ens.2_Missense_Mutation_p.F296L|VRK3_uc010ybl.1_Missense_Mutation_p.F246L|VRK3_uc010ybm.1_Missense_Mutation_p.F65L|VRK3_uc002prj.1_Missense_Mutation_p.F246L|VRK3_uc002prk.1_Missense_Mutation_p.F296L|VRK3_uc010ent.1_Missense_Mutation_p.F52L|VRK3_uc002prl.2_Missense_Mutation_p.F296L|VRK3_uc010ybn.1_Missense_Mutation_p.S274C NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 296 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) TCTCATGGAGGAACTCCAGGG 0.522 NA 33 94 0 0 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51649129 51649129 + Missense_Mutation SNP A A C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:51649129A>C uc002pvv.1 + 4 847 c.778A>C c.(778-780)AAC>CAC p.N260H SIGLEC7_uc002pvw.1_Missense_Mutation_p.N167H|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 260 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) AGCTCTGGGGAACAGCTCATC 0.517 NA 19 83 0 0 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55378031 55378031 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:55378031G>A uc002qhl.3 + 9 1276 c.1213G>A c.(1213-1215)GTT>ATT p.V405I KIR3DL2_uc010esh.2_Missense_Mutation_p.V388I|KIR3DL2_uc002qho.3_Missense_Mutation_p.V405I P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 405 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) GGATCACTGCGTTTTCATACA 0.512 NA 56 135 0 0 0 0 NLRP13 126204 broad.mit.edu 37 19 56413454 56413454 + Silent SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:56413454G>C uc010ygg.1 - 9 2761 c.2736C>G c.(2734-2736)GTC>GTG p.V912V NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 912 LRR 4. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ACAGGAACTTGACTCCCTCGT 0.552 NA 14 57 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56481960 56481960 + Missense_Mutation SNP A A C rs143689901 TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:56481960A>C uc002qmh.2 + 6 2503 c.2432A>C c.(2431-2433)AAT>ACT p.N811T NLRP8_uc010etg.2_Missense_Mutation_p.N811T NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 811 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTTGGCAATAATCTTCAAGGT 0.483 NA 23 177 0 0 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NA 3 10 0.00909568 0.00929275 1 0 RSAD2 91543 broad.mit.edu 37 2 7018158 7018158 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:7018158A>G uc002qyp.1 + 1 363 c.227A>G c.(226-228)AAC>AGC p.N76S NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 76 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) ACCAGCGTCAACTATCACTTC 0.542 NA 23 41 0 0 0 0 ZNF513 130557 broad.mit.edu 37 2 27600461 27600461 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:27600461G>T uc002rkk.2 - 4 1777 c.1577C>A c.(1576-1578)CCA>CAA p.P526Q ZNF513_uc002rkj.2_Missense_Mutation_p.P464Q NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 526 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCAGGGCTGGTGGGCCCCG 0.622 NA 32 61 6.91e-12 7.64e-12 1 0 C2orf56 55471 broad.mit.edu 37 2 37459318 37459318 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:37459318C>G uc002rqa.3 + 2 200 c.125C>G c.(124-126)CCG>CGG p.P42R CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.P42R|C2orf56_uc010ynk.1_Missense_Mutation_p.P42R|C2orf56_uc010ynl.1_Missense_Mutation_p.P42R NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 42 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) CCGGTGACGCCGATGCTGCGG 0.478 NA 6 111 0 0 0 0 THADA 63892 broad.mit.edu 37 2 43808911 43808911 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:43808911C>T uc002rsw.3 - 8 1042 c.690G>A c.(688-690)TTG>TTA p.L230L THADA_uc002rsx.3_Silent_p.L230L|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Silent_p.L230L|THADA_uc002rtc.3_Silent_p.L230L|THADA_uc002rtd.2_Silent_p.L230L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 230 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AAATACTCAGCAATCCACACA 0.328 NA 8 72 0 0 0 0 TTC7A 57217 broad.mit.edu 37 2 47278982 47278983 + Missense_Mutation DNP GC GC TT TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:47278982_47278983GC>TT uc002rvo.2 + 18 2483_2484 c.2115_2116GC>TT c.(2113-2118)CAGCTG>CATTTG p.Q705H TTC7A_uc002rvm.2_Missense_Mutation_p.Q671H|TTC7A_uc010fbb.2_Missense_Mutation_p.Q729H|TTC7A_uc010fbc.2_Missense_Mutation_p.Q351H|TTC7A_uc002rvp.2_Missense_Mutation_p.Q586H|TTC7A_uc002rvq.2_Missense_Mutation_p.Q445H|TTC7A_uc002rvr.2_Missense_Mutation_p.Q154H NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 705 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GCCCCATGCAGCTGTGGACCAC 0.658 NA 18 15 0 0 0 0 PTCD3 55037 broad.mit.edu 37 2 86361419 86361419 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:86361419T>G uc002sqw.2 + 20 1614 c.1548T>G c.(1546-1548)AGT>AGG p.S516R PTCD3_uc002sqx.1_Missense_Mutation_p.S106R|SNORD94_uc010fgr.1_5'Flank NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 516 PPR 9. mitochondrion protein binding ovary(1) 1 TTCAAGATAGTAAAGAATATG 0.408 NA 12 26 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626801 108626801 + Silent SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:108626801T>C uc002tdv.2 + 9 1503 c.1227T>C c.(1225-1227)AGT>AGC p.S409S SLC5A7_uc010ywm.1_Silent_p.S162S|SLC5A7_uc010fjj.2_Silent_p.S409S|SLC5A7_uc010ywn.1_Silent_p.S296S NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 409 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GGTACCTCAGTTCTGACCTTG 0.483 NA 28 40 0 0 0 0 MARCO 8685 broad.mit.edu 37 2 119727757 119727757 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:119727757G>C uc002tln.1 + 3 399 c.267G>C c.(265-267)GAG>GAC p.E89D MARCO_uc010yyf.1_Missense_Mutation_p.E11D NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 89 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TGGCGGCTGAGGACAGCCCGT 0.607 NA 22 32 0 0 0 0 GLI2 2736 broad.mit.edu 37 2 121732650 121732650 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:121732650A>G uc010flp.2 + 8 1363 c.1333A>G c.(1333-1335)ACC>GCC p.T445A GLI2_uc002tmq.1_Missense_Mutation_p.T117A|GLI2_uc002tmr.1_Missense_Mutation_p.T100A|GLI2_uc002tmt.3_Missense_Mutation_p.T117A|GLI2_uc002tmu.3_Missense_Mutation_p.T100A|GLI2_uc010flo.1_Missense_Mutation_p.T303A|GLI2_uc002tmw.1_Missense_Mutation_p.T428A NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 445 C2H2-type 1. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GGAAGACTGCACCAAGGAGTA 0.597 NA 9 50 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141598641 141598641 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:141598641G>A uc002tvj.1 - 30 5932 c.4960C>T c.(4960-4962)CTA>TTA p.L1654L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1654 Extracellular (Potential).|LDL-receptor class B 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCACTGCTAGCCCTCTGATA 0.368 NA TSP Lung(27;0.18) 27 45 0 0 0 0 GALNT5 11227 broad.mit.edu 37 2 158157196 158157196 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:158157196G>A uc002tzg.2 + 7 2379 c.2124G>A c.(2122-2124)ATG>ATA p.M708I GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 708 Catalytic subdomain B.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 AGGTGTGGATGTGTGGTGGTG 0.428 NA 9 65 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206345 160206345 + Silent SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:160206345T>C uc002uao.2 - 28 5089 c.4737A>G c.(4735-4737)TCA>TCG p.S1579S BAZ2B_uc002uap.2_Silent_p.S1543S NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 AAGAAGCAGTTGACATATCGG 0.453 NA 46 75 0 0 0 0 CDCA7 83879 broad.mit.edu 37 2 174229611 174229611 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:174229611G>T uc002uid.1 + 5 682 c.551G>T c.(550-552)AGG>ATG p.R184M CDCA7_uc002uic.1_Missense_Mutation_p.R263M|CDCA7_uc010zej.1_Missense_Mutation_p.R219M|CDCA7_uc010zek.1_Missense_Mutation_p.R142M NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 184 Arg-rich. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) ACCAGGTCAAGGTCCCGGATC 0.547 NA 10 42 1.77e-08 1.91e-08 1 0 TTN 7273 broad.mit.edu 37 2 179430407 179430407 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:179430407C>T uc010zfg.1 - 275 72972 c.72748G>A c.(72748-72750)GAA>AAA p.E24250K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17945K|TTN_uc010zfi.1_Missense_Mutation_p.E17878K|TTN_uc010zfj.1_Missense_Mutation_p.E17753K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25177 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) GGCTGCATTTCAACAACGTAC 0.453 NA 21 131 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179482556 179482556 + Missense_Mutation SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:179482556A>T uc010zfg.1 - 202 40042 c.39818T>A c.(39817-39819)GTT>GAT p.V13273D TTN_uc010zfh.1_Missense_Mutation_p.V6968D|TTN_uc010zfi.1_Missense_Mutation_p.V6901D|TTN_uc010zfj.1_Missense_Mutation_p.V6776D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14200 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) TGGTTTTCCAACTCCAATTCG 0.443 NA 45 75 0 0 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348156 180348156 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:180348156C>A uc002unn.3 - 6 1117 c.513G>T c.(511-513)CAG>CAT p.Q171H ZNF385B_uc002unj.2_Missense_Mutation_p.Q69H|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.Q68H|ZNF385B_uc002unm.2_Missense_Mutation_p.Q95H NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 171 Matrin-type 2. nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GGGCCTCGGCCTGGCTCTACA 0.428 NA 30 34 2.81e-11 3.08e-11 1 0 STAT1 6772 broad.mit.edu 37 2 191872313 191872313 + Silent SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:191872313C>A uc002usj.2 - 5 736 c.348G>T c.(346-348)CTG>CTT p.L116L STAT1_uc010fse.1_Silent_p.L116L|STAT1_uc002usk.2_Silent_p.L116L|STAT1_uc002usl.2_Silent_p.L118L|STAT1_uc010fsf.1_5'UTR NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 116 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GGGCGTTTTCCAGAATTTTCC 0.328 NA 38 44 2.19e-23 2.49e-23 1 0 RAPH1 65059 broad.mit.edu 37 2 204306102 204306102 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:204306102G>A uc002vad.2 - 14 2036 c.1811C>T c.(1810-1812)TCA>TTA p.S604L NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 604 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 GGGCACAAGTGAAGTGTAGGG 0.378 NA 4 17 0 0 0 0 SPEG 10290 broad.mit.edu 37 2 220309817 220309817 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:220309817C>T uc010fwg.2 + 3 749 c.749C>T c.(748-750)TCC>TTC p.S250F SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 250 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GATAGCCTTTCCGTGGCCAGT 0.652 NA 4 8 0 0 0 0 KIAA1486 57624 broad.mit.edu 37 2 226446903 226446903 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:226446903G>A uc002voe.2 + 4 945 c.770G>A c.(769-771)AGG>AAG p.R257K KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R27K NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 257 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGAGACTTCAGGAAGGAGGAC 0.577 NA 50 69 0 0 0 0 COL4A3 1285 broad.mit.edu 37 2 228131135 228131135 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:228131135G>A uc002vom.1 + 22 1480 c.1318G>A c.(1318-1320)GAC>AAC p.D440N COL4A3_uc002von.1_Missense_Mutation_p.D440N|COL4A3_uc002voo.1_Missense_Mutation_p.D440N|COL4A3_uc002vop.1_Missense_Mutation_p.D440N|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 440 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TTTTATAGGTGACATCGTTTT 0.393 NA 3 33 0 0 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431923 233431923 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:233431923A>G uc002vta.2 + 6 742 c.664A>G c.(664-666)AAA>GAA p.K222E EIF4E2_uc002vtb.1_Missense_Mutation_p.K222E|EIF4E2_uc010zmi.1_Missense_Mutation_p.K177E NM_004846 NP_004837 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E 222 7-methylguanosine-containing mRNA cap binding (By similarity). 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) CGACAGCATCAAGTACGTGTT 0.507 NA 3 103 0 0 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602466 234602466 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:234602466C>T uc002vuv.3 + 1 955 c.816C>T c.(814-816)GTC>GTT p.V272V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Silent_p.V5V|UGT1A6_uc010zmy.1_Silent_p.V272V NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 272 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCAACATGGTCTTCATTGGAG 0.438 NA 243 375 0 0 0 0 STK25 10494 broad.mit.edu 37 2 242435884 242435884 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:242435884G>C uc002wbm.2 - 10 1441 c.1170C>G c.(1168-1170)TTC>TTG p.F390L STK25_uc002wbk.2_Missense_Mutation_p.F209L|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.F390L|STK25_uc002wbo.2_Missense_Mutation_p.F313L|STK25_uc010zos.1_Missense_Mutation_p.F296L|STK25_uc010zot.1_Missense_Mutation_p.F316L|STK25_uc002wbp.2_Missense_Mutation_p.F390L|STK25_uc010fzo.2_Missense_Mutation_p.F313L|STK25_uc010zou.1_Missense_Mutation_p.F296L|STK25_uc010zov.1_Missense_Mutation_p.F296L NM_006374 NP_006365 O00506 STK25_HUMAN serine/threonine kinase 25 390 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CGGCCAGGCTGAAGGCGTTCT 0.657 NA 13 59 0 0 0 0 ACSS1 84532 broad.mit.edu 37 20 24993469 24993469 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:24993469G>A uc002wub.2 - 11 2564 c.1686C>T c.(1684-1686)ACC>ACT p.T562T ACSS1_uc002wuc.2_Silent_p.T560T|ACSS1_uc010gdc.2_Silent_p.T357T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Silent_p.T479T NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 562 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CAATCTCTGCGGTCCCCAGCC 0.597 NA 38 34 0 0 0 0 KIF3B 9371 broad.mit.edu 37 20 30898796 30898796 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:30898796G>A uc002wxq.2 + 2 1383 c.1216G>A c.(1216-1218)GAA>AAA p.E406K KIF3B_uc010ztv.1_Intron|KIF3B_uc010ztw.1_Intron NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 406 Poly-Glu.|Potential. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) gggtgaggaggaaggggaTGA 0.418 NA 8 14 0 0 0 0 SAMHD1 25939 broad.mit.edu 37 20 35532577 35532577 + Nonsense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:35532577C>A uc002xgh.1 - 13 1616 c.1486G>T c.(1486-1488)GAA>TAA p.E496* SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 496 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) ATAAAATCTTCAGCCTTCAGT 0.353 NA 22 108 1.11e-09 1.21e-09 1 0 ZNF334 55713 broad.mit.edu 37 20 45140723 45140723 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:45140723G>T uc002xsc.2 - 2 203 c.19C>A c.(19-21)CAG>AAG p.Q7K ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_5'UTR NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CAACTTACCTGAAATTTTTTC 0.378 NA 20 26 7.88e-14 8.78e-14 1 0 ZNFX1 57169 broad.mit.edu 37 20 47887747 47887747 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:47887747C>T uc002xui.2 - 3 849 c.602G>A c.(601-603)CGC>CAC p.R201H NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 201 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AACACTCTGGCGATCCATTTT 0.453 NA 57 65 0 0 0 0 KCNB1 3745 broad.mit.edu 37 20 47990164 47990164 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:47990164C>G uc002xur.1 - 2 2097 c.1933G>C c.(1933-1935)GAT>CAT p.D645H KCNB1_uc002xus.1_Missense_Mutation_p.D645H NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 645 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGGCTGGCATCAGGGCTGGGG 0.567 NA 7 57 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60884793 60884793 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:60884793G>C uc002ycq.2 - 79 10994 c.10927C>G c.(10927-10929)CTG>GTG p.L3643V NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3643 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGAGGTACAGAGGGGCTGGG 0.607 NA 10 12 0 0 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380432 30380432 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr21:30380432C>G uc002yms.2 - 4 462 c.375G>C c.(373-375)TTG>TTC p.L125F RWDD2B_uc002ymt.2_Missense_Mutation_p.L96F|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.L45F NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 125 RWD. 0 GGGATCTACTCAATAATACTG 0.358 NA 13 35 0 0 0 0 MICAL3 57553 broad.mit.edu 37 22 18387474 18387474 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:18387474G>A uc002zng.3 - 3 749 c.396C>T c.(394-396)TTC>TTT p.F132F MICAL3_uc011agl.1_Silent_p.F132F|MICAL3_uc002znh.2_Silent_p.F132F|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Silent_p.F132F|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.F132F|MICAL3_uc011agm.1_Silent_p.F132F NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 132 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CATGTATGGTGAATGGCCAGA 0.483 NA 32 91 0 0 0 0 MICAL3 57553 broad.mit.edu 37 22 18387600 18387600 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:18387600G>A uc002zng.3 - 3 623 c.270C>T c.(268-270)CTC>CTT p.L90L MICAL3_uc011agl.1_Silent_p.L90L|MICAL3_uc002znh.2_Silent_p.L90L|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Silent_p.L90L|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.L90L|MICAL3_uc011agm.1_Silent_p.L90L NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 90 FAD (Potential). cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CCCCAATGATGAGACACTGAA 0.507 NA 4 20 0 0 0 0 MICAL3 57553 broad.mit.edu 37 22 18389542 18389542 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:18389542G>C uc002zng.3 - 2 390 c.37C>G c.(37-39)CAT>GAT p.H13D MICAL3_uc011agl.1_Missense_Mutation_p.H13D|MICAL3_uc002znh.2_Missense_Mutation_p.H13D|MICAL3_uc002znk.1_Missense_Mutation_p.H13D|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.H13D|MICAL3_uc011agm.1_Missense_Mutation_p.H13D NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 13 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) AAGAGGACATGAGCTGGGTTC 0.577 NA 18 63 0 0 0 0 C22orf15 150248 broad.mit.edu 37 22 24106898 24106898 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:24106898C>T uc011aja.1 + 4 609 c.323C>T c.(322-324)GCA>GTA p.A108V C22orf15_uc002zxv.1_3'UTR|C22orf15_uc002zxu.2_Missense_Mutation_p.A113V NM_182520 NP_872326 Q8WYQ4 CV015_HUMAN hypothetical protein LOC150248 108 0 Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518) CCAGAGCTGGCAGGTGAGTGT 0.587 NA 11 25 0 0 0 0 EIF3L 51386 broad.mit.edu 37 22 38270460 38270460 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:38270460C>T uc003auf.2 + 9 922 c.835C>T c.(835-837)CGC>TGC p.R279C EIF3L_uc003aue.1_Missense_Mutation_p.R279C|EIF3L_uc011ann.1_Missense_Mutation_p.R231C|EIF3L_uc003aug.2_Missense_Mutation_p.R171C|EIF3L_uc003auh.2_Missense_Mutation_p.R12C NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 279 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 CGGGCTTCTCCGCCTGCACTC 0.547 NA 44 19 0 0 0 0 ST13 6767 broad.mit.edu 37 22 41240914 41240914 + Splice_Site SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:41240914C>T uc003aze.2 - 4 388 c.245_splice c.e4-1 p.E82_splice ST13_uc011aow.1_Splice_Site_p.E72_splice NM_003932 NP_003923 P50502 F10A1_HUMAN heat shock 70kD protein binding protein protein binding, bridging 0 TTATCAATTTCTGCCAAAGTC 0.388 NA 6 15 0 0 0 0 MPPED1 758 broad.mit.edu 37 22 43898630 43898630 + Silent SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:43898630C>A uc011apv.1 + 6 1078 c.855C>A c.(853-855)ATC>ATA p.I285I MPPED1_uc011apw.1_Silent_p.I179I|MPPED1_uc011apx.1_Silent_p.I127I|MPPED1_uc011apy.1_Silent_p.I285I|MPPED1_uc011apz.1_Silent_p.I318I NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 285 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) TTGGCCACATCCACGAAGGTC 0.612 NA 14 29 6.32e-08 6.82e-08 1 0 PLXNB2 23654 broad.mit.edu 37 22 50724681 50724681 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr22:50724681G>A uc003bkv.3 - 9 1904 c.1798C>T c.(1798-1800)CGA>TGA p.R600* NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 600 Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATGTTGCCTCGTCTAAGGAGG 0.647 NA 59 20 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89498433 89498433 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:89498433C>G uc003dqy.2 + 14 2630 c.2405C>G c.(2404-2406)ACG>AGG p.T802R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 802 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CGCAAGTTCACGTCAGCCAGC 0.438 NA TSP Lung(6;0.00050) 50 65 0 0 0 0 OR5H14 403273 broad.mit.edu 37 3 97868318 97868318 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:97868318C>A uc003dsg.1 + 1 89 c.89C>A c.(88-90)GCA>GAA p.A30E NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGTTCCTGGCATTCTTGGTA 0.418 NA 80 153 2.37e-37 2.71e-37 1 0 CCDC80 151887 broad.mit.edu 37 3 112358039 112358039 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:112358039C>T uc003dzf.2 - 2 932 c.714G>A c.(712-714)CTG>CTA p.L238L CCDC80_uc011bhv.1_Silent_p.L238L|CCDC80_uc003dzg.2_Silent_p.L238L|CCDC80_uc003dzh.1_Silent_p.L238L NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 238 ovary(2) 2 GCGTCTTCTTCAGCAGCACCA 0.582 NA 20 108 0 0 0 0 DRD3 1814 broad.mit.edu 37 3 113850024 113850024 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:113850024T>G uc003ebd.2 - 7 1370 c.947A>C c.(946-948)CAA>CCA p.Q316P DRD3_uc010hqn.1_Missense_Mutation_p.Q316P|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Missense_Mutation_p.Q316P NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 316 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TCCCCGAGGTTGCAGGGGCCC 0.443 NA 21 94 0 0 0 0 ZNF80 7634 broad.mit.edu 37 3 113955700 113955700 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:113955700C>T uc010hqo.2 - 1 726 c.222G>A c.(220-222)GTG>GTA p.V74V ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 74 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) CATAAGGCTTCACCCCAGTGT 0.498 NA 8 23 0 0 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941894 120941894 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:120941894C>A uc003eec.3 + 11 1141 c.1001C>A c.(1000-1002)GCT>GAT p.A334D STXBP5L_uc011bji.1_Missense_Mutation_p.A334D NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 334 WD 6. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TATGACAAAGCTTGTAGAAGA 0.368 NA 33 59 1.27e-14 1.41e-14 1 0 SGEF 26084 broad.mit.edu 37 3 153973168 153973168 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr3:153973168C>G uc011bog.1 + 15 2733 c.2522C>G c.(2521-2523)CCT>CGT p.P841R SGEF_uc011boh.1_3'UTR|SGEF_uc011boi.1_Missense_Mutation_p.P109R NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 841 SH3. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGCTGGTTTCCTATGGAATGT 0.468 NA 16 63 0 0 0 0 NCAPG 64151 broad.mit.edu 37 4 17829921 17829921 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:17829921G>C uc003gpp.2 + 12 1850 c.1674G>C c.(1672-1674)CAG>CAC p.Q558H NCAPG_uc011bxj.1_Missense_Mutation_p.Q67H NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 558 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) AAACATTGCAGAAATGTCTTA 0.348 NA 17 32 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20525414 20525414 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:20525414C>T uc003gpr.1 + 13 1366 c.1162C>T c.(1162-1164)CGG>TGG p.R388W SLIT2_uc003gps.1_Missense_Mutation_p.R388W NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 388 LRR 10. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AAACTGCCTTCGGGTAGATGC 0.408 NA 23 78 0 0 0 0 KLF3 51274 broad.mit.edu 37 4 38696416 38696416 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:38696416G>A uc003gth.3 + 5 1077 c.745G>A c.(745-747)GAA>AAA p.E249K NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 249 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 TTTACCTGTGGAATCCCCGGA 0.478 NA 11 81 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66361186 66361187 + Missense_Mutation DNP TG TG AT TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:66361186_66361187TG>AT uc003hcy.2 - 4 1178_1179 c.985_986CA>AT c.(985-987)CAT>ATT p.H329I EPHA5_uc003hcx.2_Missense_Mutation_p.H260I|EPHA5_uc003hcz.2_Missense_Mutation_p.H329I|EPHA5_uc011cah.1_Missense_Mutation_p.H329I|EPHA5_uc011cai.1_Missense_Mutation_p.H329I|EPHA5_uc003hda.2_Missense_Mutation_p.H329I NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 329 Extracellular (Potential).|Cys-rich. 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 AGCTTCCTCATGGGTATAACTG 0.465 NA TSP Lung(17;0.13) 39 74 0 0 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68703947 68703947 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:68703947G>A uc003hdq.2 - 5 483 c.418C>T c.(418-420)CGA>TGA p.R140* LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Nonsense_Mutation_p.R23* NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 140 SEA.|Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AGCATTTGTCGTAAAACAGAC 0.333 NA 19 31 0 0 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978401 69978401 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:69978401C>G uc003heg.3 + 6 1583 c.1537C>G c.(1537-1539)CTG>GTG p.L513V UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 513 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 AAAATGTTGTCTGTTTTGTTT 0.413 NA 37 46 0 0 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152479 70152479 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:70152479G>C uc003hej.2 + 3 882 c.880G>C c.(880-882)GAA>CAA p.E294Q UGT2B28_uc010ihr.2_Missense_Mutation_p.E294Q NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GGAAATGGAGGAATTTGTACA 0.383 NA 57 104 0 0 0 0 RG9MTD2 93587 broad.mit.edu 37 4 100475021 100475021 + Missense_Mutation SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:100475021T>C uc003huy.2 - 6 879 c.566A>G c.(565-567)GAT>GGT p.D189G RG9MTD2_uc003huz.3_Missense_Mutation_p.D189G|RG9MTD2_uc003hva.3_Missense_Mutation_p.D189G NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN RNA (guanine-9-) methyltransferase domain 189 methyltransferase activity ovary(2)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) ATTAGGTGAATCTGACGTAAG 0.338 NA 31 7 0 0 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592804 125592804 + Nonsense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:125592804G>C uc003ifg.3 - 3 1894 c.1628C>G c.(1627-1629)TCA>TGA p.S543* ANKRD50_uc011cgo.1_Nonsense_Mutation_p.S364*|ANKRD50_uc010inw.2_Nonsense_Mutation_p.S543* NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 543 central_nervous_system(1) 1 TCTCCCATTTGAATCACACTG 0.398 NA 42 11 0 0 0 0 SNX25 83891 broad.mit.edu 37 4 186188282 186188282 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:186188282C>T uc003ixh.2 + 5 761 c.572C>T c.(571-573)TCT>TTT p.S191F NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 191 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) AACAGCAACTCTGATGTGGAG 0.438 NA 15 51 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187627830 187627830 + Nonsense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:187627830G>C uc003izf.2 - 2 3340 c.3152C>G c.(3151-3153)TCA>TGA p.S1051* FAT1_uc010iso.1_Nonsense_Mutation_p.S1051* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1051 Extracellular (Potential).|Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CATTACCAATGAACCAACAGG 0.483 NA HNSCC(5;0.00058) 51 26 0 0 0 0 LPCAT1 79888 broad.mit.edu 37 5 1489929 1489929 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:1489929G>A uc003jcm.2 - 4 655 c.538C>T c.(538-540)CAG>TAG p.Q180* NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 180 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CGAGAATCCTGGTCTGACCGG 0.557 NA 20 479 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463028 5463028 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:5463028C>G uc003jdm.3 + 13 3803 c.3581C>G c.(3580-3582)TCT>TGT p.S1194C NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1194 ovary(1)|central_nervous_system(1) 2 GACTCTGTTTCTGAATGTTCT 0.378 NA 6 41 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13901563 13901563 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:13901563G>A uc003jfd.2 - 14 1892 c.1850C>T c.(1849-1851)GCT>GTT p.A617V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 617 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTGGTTTCGAGCCAGAGGAGG 0.478 NA Kartagener_syndrome 18 79 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24535254 24535254 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:24535254C>T uc003jgr.1 - 5 1113 c.781G>A c.(781-783)GAT>AAT p.D261N CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 261 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCATTGACATCTGTCAGCGTG 0.453 NA HNSCC(23;0.051) 8 135 0 0 0 0 PDZD2 23037 broad.mit.edu 37 5 32037403 32037403 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:32037403C>G uc003jhl.2 + 7 1862 c.1474C>G c.(1474-1476)CCC>GCC p.P492A PDZD2_uc003jhm.2_Missense_Mutation_p.P492A|PDZD2_uc011cnx.1_Missense_Mutation_p.P318A NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 492 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTTGGAAAGTCCCAAACAGGG 0.522 NA 6 78 0 0 0 0 RANBP3L 202151 broad.mit.edu 37 5 36251436 36251436 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:36251436G>T uc003jkh.2 - 13 1826 c.1333C>A c.(1333-1335)CAA>AAA p.Q445K RANBP3L_uc011cow.1_Missense_Mutation_p.Q470K NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 445 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) TTAGTGACTTGGATGAAATCA 0.353 NA 4 106 8.13e-05 8.55e-05 1 0 C5orf28 64417 broad.mit.edu 37 5 43453838 43453838 + Silent SNP T T A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:43453838T>A uc003jny.2 - 2 377 c.234A>T c.(232-234)GGA>GGT p.G78G C5orf28_uc003jnv.3_Silent_p.G78G|C5orf28_uc003jnx.2_Silent_p.G78G NM_022483 NP_071928 Q0VDI3 CE028_HUMAN hypothetical protein LOC64417 78 Helical; (Potential). integral to membrane 0 Lung NSC(6;2.07e-05) AAATGATTTCTCCAAAGTCAG 0.393 NA 33 128 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79095241 79095241 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:79095241G>A uc003kgc.2 + 13 12084 c.12012G>A c.(12010-12012)GAG>GAA p.E4004E NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 4004 B30.2/SPRY. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATGTGACTGAGCGTCCAGCCA 0.443 NA 7 45 0 0 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940335 82940335 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:82940335C>A uc003kim.2 - 3 693 c.622G>T c.(622-624)GGC>TGC p.G208C HAPLN1_uc003kin.2_Missense_Mutation_p.G208C NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 208 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CTGAGCCAGCCGGCATTGCAC 0.622 NA 46 11 1.42e-22 1.6e-22 1 0 LOX 4015 broad.mit.edu 37 5 121411146 121411146 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:121411146G>A uc003ksu.2 - 3 1206 c.831C>T c.(829-831)TTC>TTT p.F277F LOX_uc010jcp.2_5'Flank|LOX_uc010jcq.2_5'UTR|LOX_uc011cwk.1_Silent_p.F47F|LOX_uc010jcr.2_5'UTR NM_002317 NP_002308 P28300 LYOX_HUMAN lysyl oxidase preproprotein 277 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity lung(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) GGCTGGGTAAGAAATCTGATG 0.453 NA 13 75 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130897699 130897699 + Missense_Mutation SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:130897699A>T uc003kvn.1 - 5 529 c.323T>A c.(322-324)CTT>CAT p.L108H RAPGEF6_uc003kvp.1_Missense_Mutation_p.L158H|RAPGEF6_uc003kvo.1_Missense_Mutation_p.L108H|RAPGEF6_uc010jdi.1_Missense_Mutation_p.L108H|RAPGEF6_uc010jdj.1_Missense_Mutation_p.L108H|RAPGEF6_uc003kvr.2_Missense_Mutation_p.L108H|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.L108H NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 108 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTCTAATACAAGACAATCACA 0.274 NA 63 12 0 0 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222091 140222091 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:140222091C>G uc003lhs.2 + 1 1185 c.1185C>G c.(1183-1185)TTC>TTG p.F395L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.F395L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 395 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTCCCCTTCAAGCTGGTGT 0.577 NA 43 192 0 0 0 0 HDAC3 8841 broad.mit.edu 37 5 141009429 141009429 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:141009429C>T uc003llf.2 - 5 484 c.418G>A c.(418-420)GAG>AAG p.E140K HDAC3_uc003lle.1_Missense_Mutation_p.E83K|HDAC3_uc010jgd.1_Missense_Mutation_p.E65K|HDAC3_uc010jge.1_Intron NM_003883 NP_003874 O15379 HDAC3_HUMAN histone deacetylase 3 140 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) TCACTCACCTCAAACTTCTTG 0.517 NA 9 50 0 0 0 0 C5orf54 63920 broad.mit.edu 37 5 159821613 159821613 + Silent SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:159821613C>G uc003lye.1 - 2 1349 c.885G>C c.(883-885)GTG>GTC p.V295V C5orf54_uc003lyf.1_Silent_p.V295V NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 295 pancreas(1) 1 ttattaccctcaccacagtaa 0 NA 28 92 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176618931 176618931 + Missense_Mutation SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr5:176618931A>T uc003mfr.3 + 3 1112 c.974A>T c.(973-975)GAT>GTT p.D325V NSD1_uc003mft.3_Missense_Mutation_p.D56V|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_5'UTR|NSD1_uc003mfp.2_Missense_Mutation_p.D325V NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 325 PWWP 1. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) GAAGTTGGAGATCTCATCTGG 0.388 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 41 16 0 0 0 0 C6orf195 154386 broad.mit.edu 37 6 2623874 2623874 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:2623874G>A uc003mtw.2 - 3 1168 c.183C>T c.(181-183)CCC>CCT p.P61P NM_152554 NP_689767 Q96MT4 CF195_HUMAN hypothetical protein LOC154386 61 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) GGCCGGACCCGGGAGGGGAGA 0.632 NA 46 73 0 0 0 0 PAK1IP1 55003 broad.mit.edu 37 6 10707670 10707670 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:10707670G>C uc003mzg.2 + 8 794 c.763G>C c.(763-765)GAA>CAA p.E255Q NM_017906 NP_060376 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 255 WD 5. negative regulation of signal transduction nucleolus|plasma membrane 0 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) GTTCAGTTTTGAAATTCCAGA 0.333 NA 22 90 0 0 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056153 26056153 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:26056153C>G uc003nfw.2 - 1 547 c.504G>C c.(502-504)AAG>AAC p.K168N NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 168 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TAGCCACTTTCTTGGTTACAG 0.572 NA 61 27 0 0 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114365 27114365 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:27114365G>A uc003nix.1 - 1 255 c.213C>T c.(211-213)TTC>TTT p.F71F HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 CGATGCGTTCGAAGATGTCGT 0.602 NA 86 35 0 0 0 0 TTBK1 84630 broad.mit.edu 37 6 43230556 43230556 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:43230556C>T uc003ouq.1 + 13 1733 c.1454C>T c.(1453-1455)TCG>TTG p.S485L TTBK1_uc011dvg.1_Missense_Mutation_p.S8L NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 485 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGCTCGCCCTCGCGCCAGGCC 0.677 NA 5 4 0 0 0 0 POPDC3 64208 broad.mit.edu 37 6 105606561 105606561 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:105606561G>A uc003prb.2 - 4 1062 c.660C>T c.(658-660)CTC>CTT p.L220L uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 220 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) GCTGAGCAAAGAGCAGATATA 0.408 NA 46 89 0 0 0 0 PRDM1 639 broad.mit.edu 37 6 106547390 106547390 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:106547390C>G uc003prd.2 + 4 861 c.627C>G c.(625-627)CAC>CAG p.H209Q PRDM1_uc003pre.2_Missense_Mutation_p.H75Q NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 209 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AAAGGCTTCACTACCCTTATC 0.443 NA D|N|Mis|F|S DLBCL 16 5 0 0 0 0 SERAC1 84947 broad.mit.edu 37 6 158540196 158540196 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:158540196G>A uc003qrc.2 - 12 1315 c.1173C>T c.(1171-1173)CCC>CCT p.P391P SERAC1_uc003qrb.2_Silent_p.P119P NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 391 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CTGCTTTAATGGGCTGACTAA 0.423 NA 2 5 0 0 0 0 QKI 9444 broad.mit.edu 37 6 163984469 163984469 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:163984469C>G uc003qui.2 + 6 1203 c.652C>G c.(652-654)CTT>GTT p.L218V QKI_uc003que.2_Missense_Mutation_p.L218V|QKI_uc003quf.2_Missense_Mutation_p.L218V|QKI_uc003qug.2_Missense_Mutation_p.L218V|QKI_uc003quh.2_Intron|QKI_uc003quj.2_Intron NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 218 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TGCCTTTTCTCTTGCAGCAAC 0.498 NA 3 20 0 0 0 0 EIF3B 8662 broad.mit.edu 37 7 2412331 2412331 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:2412331G>A uc003slx.2 + 12 1794 c.1711G>A c.(1711-1713)GAA>AAA p.E571K EIF3B_uc003sly.2_Missense_Mutation_p.E571K|EIF3B_uc003sma.2_Missense_Mutation_p.E299K NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 571 WD 4. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CTTTGCCTGGGAACCAAATGG 0.438 NA 11 24 0 0 0 0 LFNG 3955 broad.mit.edu 37 7 2566545 2566545 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:2566545G>A uc003smf.2 + 7 1080 c.1063G>A c.(1063-1065)GAC>AAC p.D355N LFNG_uc003smg.2_Missense_Mutation_p.D355N NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN lunatic fringe isoform a 355 Lumenal (Potential). organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) GGTGGAGGCCGACCCATCCAG 0.647 NA 5 17 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11676325 11676325 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:11676325C>T uc003ssf.3 - 2 706 c.454G>A c.(454-456)GGT>AGT p.G152S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 152 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACCTGAATACCTTCTTCCCCC 0.488 NA HNSCC(18;0.044) 16 26 0 0 0 0 ABCB5 340273 broad.mit.edu 37 7 20739693 20739693 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:20739693G>C uc003suw.3 + 10 1483 c.937G>C c.(937-939)GGC>CGC p.G313R ABCB5_uc010kuh.2_Missense_Mutation_p.G758R NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 313 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 ATTATTTTACGGCAGAGCAGG 0.303 NA 26 59 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21678648 21678648 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:21678648C>G uc003svc.2 + 28 4955 c.4924C>G c.(4924-4926)CTT>GTT p.L1642V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1642 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGCTGATTTACTTGACATTCT 0.398 NA Kartagener_syndrome 9 48 0 0 0 0 GLI3 2737 broad.mit.edu 37 7 42079708 42079708 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:42079708C>T uc011kbh.1 - 7 1048 c.957G>A c.(955-957)ACG>ACA p.T319T GLI3_uc011kbg.1_Silent_p.T260T NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 319 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TATTGAGAATCGTGACCAAGG 0.468 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 7 52 0 0 0 0 POLD2 5425 broad.mit.edu 37 7 44157600 44157600 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:44157600C>T uc010kxz.2 - 4 934 c.284G>A c.(283-285)GGC>GAC p.G95D POLD2_uc003tke.3_Missense_Mutation_p.G95D|POLD2_uc010kya.2_Missense_Mutation_p.G95D|POLD2_uc003tkf.3_Missense_Mutation_p.G95D NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 95 base-excision repair|DNA strand elongation involved in DNA replication|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|protein binding ovary(2) 2 GAACAGAGTGCCCACCACACA 0.617 NA 3 59 0 0 0 0 TNS3 64759 broad.mit.edu 37 7 47476871 47476871 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:47476871A>G uc003tnv.2 - 7 558 c.191T>C c.(190-192)CTT>CCT p.L64P TNS3_uc003tnw.2_Missense_Mutation_p.L64P|TNS3_uc010kyo.1_Missense_Mutation_p.L64P NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 64 Phosphatase tensin-type. focal adhesion protein binding ovary(4) 4 CTTTGGGTTAAGCTTCGTAAG 0.274 NA 21 32 0 0 0 0 SUN3 256979 broad.mit.edu 37 7 48045610 48045610 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:48045610C>G uc003tof.2 - 7 630 c.533G>C c.(532-534)AGA>ACA p.R178T SUN3_uc010kyq.2_Missense_Mutation_p.R78T|SUN3_uc003tog.2_Missense_Mutation_p.R178T|SUN3_uc011kcf.1_Missense_Mutation_p.R166T NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 178 integral to membrane central_nervous_system(1) 1 TTGGTCTTCTCTCAACTTTTT 0.358 NA 7 33 0 0 0 0 HGF 3082 broad.mit.edu 37 7 81355326 81355326 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:81355326G>A uc003uhl.2 - 9 1213 c.1048C>T c.(1048-1050)CGA>TGA p.R350* HGF_uc003uhm.2_Nonsense_Mutation_p.R345* NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 350 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TAATTTTCTCGTAGGTCCCTA 0.418 NA 19 47 0 0 0 0 VGF 7425 broad.mit.edu 37 7 100806475 100806475 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:100806475G>A uc003uxx.3 - 2 1868 c.1650C>T c.(1648-1650)ATC>ATT p.I550I NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 550 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) TCCGCGGCCGGATGTAGTTGG 0.721 NA 7 53 0 0 0 0 SLC26A5 375611 broad.mit.edu 37 7 103053458 103053458 + Missense_Mutation SNP T T G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:103053458T>G uc003vbz.2 - 5 630 c.394A>C c.(394-396)ATA>CTA p.I132L SLC26A5_uc003vbt.1_Missense_Mutation_p.I132L|SLC26A5_uc003vbu.1_Missense_Mutation_p.I132L|SLC26A5_uc003vbv.1_Missense_Mutation_p.I132L|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.I132L|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 132 Helical; Name=3; (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 CCTATGGATATGTGTCTGGAG 0.373 NA 12 42 0 0 0 0 PNPLA8 50640 broad.mit.edu 37 7 108154982 108154982 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:108154982C>G uc003vff.1 - 4 1361 c.954G>C c.(952-954)AAG>AAC p.K318N PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.K318N|PNPLA8_uc003vfi.1_Missense_Mutation_p.K218N|PNPLA8_uc003vfj.1_Missense_Mutation_p.K318N|PNPLA8_uc003vfk.1_Missense_Mutation_p.K218N NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 318 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 CTGACTGACTCTTTGAATCAT 0.413 NA 30 156 0 0 0 0 C7orf60 154743 broad.mit.edu 37 7 112461999 112461999 + Missense_Mutation SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:112461999T>C uc003vgo.1 - 5 1145 c.1018A>G c.(1018-1020)ATT>GTT p.I340V C7orf60_uc011kms.1_Missense_Mutation_p.I366V NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 340 ovary(2)|skin(1) 3 TCTTGAGGAATATATAACATT 0.294 NA 4 37 0 0 0 0 ING3 54556 broad.mit.edu 37 7 120613295 120613295 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:120613295G>C uc003vjn.2 + 11 1272 c.1138G>C c.(1138-1140)GAT>CAT p.D380H ING3_uc003vjo.2_Missense_Mutation_p.D154H|ING3_uc003vjp.2_3'UTR|ING3_uc011kns.1_Missense_Mutation_p.D365H NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 380 PHD-type. Missing (in Ref. 5; CAC48260). histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) TGATAACCAAGATGTAAGTAT 0.284 NA 15 62 0 0 0 0 ASB10 136371 broad.mit.edu 37 7 150878413 150878413 + Silent SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:150878413T>C uc003wjm.1 - 3 978 c.852A>G c.(850-852)GCA>GCG p.A284A ASB10_uc003wjl.1_Silent_p.A284A|ASB10_uc003wjn.1_Silent_p.A224A NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 239 ANK 4. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATCAGGACATGCCCCCCGTC 0.652 NA 5 15 0 0 0 0 FGF20 26281 broad.mit.edu 37 8 16850824 16850824 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:16850824C>G uc003wxc.1 - 3 526 c.393G>C c.(391-393)GAG>GAC p.E131D FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Missense_Mutation_p.E97Q NM_019851 NP_062825 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 131 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity lung(1) 1 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) AAGTAAGTTTCTCCTGAAAGA 0.333 NA 45 132 0 0 0 0 LPL 4023 broad.mit.edu 37 8 19810909 19810909 + Missense_Mutation SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:19810909A>T uc003wzk.3 + 4 888 c.518A>T c.(517-519)AAT>ATT p.N173I NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 173 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) AGTCTGACCAATAAGAAAGTC 0.413 NA 29 41 0 0 0 0 MCM4 4173 broad.mit.edu 37 8 48887407 48887407 + Silent SNP T T A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:48887407T>A uc003xqk.1 + 15 2345 c.2250T>A c.(2248-2250)TCT>TCA p.S750S MCM4_uc003xql.1_Silent_p.S750S|MCM4_uc011ldi.1_Silent_p.S737S NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 750 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) TAAGATTGTCTAACAAAGTTG 0.498 NA 12 159 0 0 0 0 SNTG1 54212 broad.mit.edu 37 8 51705261 51705261 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:51705261C>G uc010lxy.1 + 20 1797 c.1426C>G c.(1426-1428)CTT>GTT p.L476V SNTG1_uc003xqs.1_Missense_Mutation_p.L476V|SNTG1_uc010lxz.1_Missense_Mutation_p.L439V|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 476 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTTGCTGTTCTTCACTGCAT 0.363 NA 18 101 0 0 0 0 TGS1 96764 broad.mit.edu 37 8 56698298 56698298 + Missense_Mutation SNP G G C rs139226926 byFrequency TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:56698298G>C uc003xsj.3 + 3 574 c.187G>C c.(187-189)GAG>CAG p.E63Q TGS1_uc010lyh.2_5'UTR NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 63 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GACAGAAGAAGAGGAAGGTGG 0.338 NA 10 37 0 0 0 0 FAM110B 90362 broad.mit.edu 37 8 59059795 59059795 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:59059795G>A uc003xtj.1 + 5 1886 c.1006G>A c.(1006-1008)GAC>AAC p.D336N NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 336 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CAGTGCCAATGACCGCGTGCC 0.458 NA 12 13 0 0 0 0 PAG1 55824 broad.mit.edu 37 8 81899630 81899630 + Silent SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:81899630C>T uc003ybz.2 - 6 960 c.249G>A c.(247-249)CAG>CAA p.Q83Q NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 83 Cytoplasmic (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GTGCCCCATTCTGCTCACTGC 0.438 NA 12 62 0 0 0 0 ENY2 56943 broad.mit.edu 37 8 110348368 110348368 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:110348368G>A uc003ynd.2 + 2 80 c.18G>A c.(16-18)ATG>ATA p.M6I NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.M1I NM_020189 NP_064574 Q9NPA8 ENY2_HUMAN enhancer of yellow 2 homolog 6 histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity 0 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;9.05e-13) TTAGCAAGATGAACAAAGATG 0.358 NA 8 13 0 0 0 0 SYBU 55638 broad.mit.edu 37 8 110590243 110590243 + Silent SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr8:110590243A>G uc003ynj.3 - 6 901 c.738T>C c.(736-738)CGT>CGC p.R246R SYBU_uc003yni.3_Silent_p.R243R|SYBU_uc003ynk.3_Silent_p.R127R|SYBU_uc010mco.2_Silent_p.R245R|SYBU_uc003ynl.3_Silent_p.R245R|SYBU_uc010mcp.2_Silent_p.R246R|SYBU_uc010mcq.2_Silent_p.R246R|SYBU_uc003yno.3_Silent_p.R127R|SYBU_uc010mcr.2_Silent_p.R246R|SYBU_uc003ynm.3_Silent_p.R245R|SYBU_uc003ynn.3_Silent_p.R245R|SYBU_uc010mcs.2_Silent_p.R127R|SYBU_uc010mct.2_Silent_p.R246R|SYBU_uc010mcu.2_Silent_p.R245R|SYBU_uc003ynp.3_Silent_p.R178R|SYBU_uc010mcv.2_Silent_p.R246R|SYBU_uc003ynh.3_Silent_p.R40R|SYBU_uc011lhw.1_Silent_p.R116R NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 246 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 ACCTTCCAGAACGCCTGAAAC 0.378 NA 30 113 0 0 0 0 PTPRD 5789 broad.mit.edu 37 9 8471058 8471058 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:8471058C>G uc003zkk.2 - 30 4152 c.3441G>C c.(3439-3441)TTG>TTC p.L1147F PTPRD_uc003zkp.2_Missense_Mutation_p.L736F|PTPRD_uc003zkq.2_Missense_Mutation_p.L736F|PTPRD_uc003zkr.2_Missense_Mutation_p.L731F|PTPRD_uc003zks.2_Missense_Mutation_p.L726F|PTPRD_uc003zkl.2_Missense_Mutation_p.L1138F|PTPRD_uc003zkm.2_Missense_Mutation_p.L1134F|PTPRD_uc003zkn.2_Missense_Mutation_p.L736F|PTPRD_uc003zko.2_Missense_Mutation_p.L733F NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1147 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAGATTTCTTCAAAGGCACAA 0.378 NA TSP Lung(15;0.13) 40 18 0 0 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753314 18753314 + Nonsense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:18753314G>A uc003zne.3 + 16 2152 c.2025G>A c.(2023-2025)TGG>TGA p.W675* NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 675 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TTGGCAAGTGGAGTCCATGTA 0.488 NA 10 2 0 0 0 0 FAM154A 158297 broad.mit.edu 37 9 18928327 18928327 + Missense_Mutation SNP G G T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:18928327G>T uc003zni.1 - 4 1426 c.1148C>A c.(1147-1149)CCT>CAT p.P383H FAM154A_uc010mip.1_Missense_Mutation_p.P191H NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 383 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) GGTATTGATAGGCAGGTGGGG 0.582 NA 8 33 0.000157383 0.000164916 1 0 C9orf131 138724 broad.mit.edu 37 9 35044434 35044434 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:35044434C>T uc003zvw.2 + 2 1837 c.1808C>T c.(1807-1809)CCA>CTA p.P603L C9orf131_uc003zvu.2_Missense_Mutation_p.P555L|C9orf131_uc003zvv.2_Missense_Mutation_p.P530L|C9orf131_uc003zvx.2_Missense_Mutation_p.P568L NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 603 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCTAAGCACCCAGCTTGTAAC 0.493 NA 31 101 0 0 0 0 C9orf131 138724 broad.mit.edu 37 9 35044709 35044709 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:35044709C>G uc003zvw.2 + 2 2112 c.2083C>G c.(2083-2085)CTA>GTA p.L695V C9orf131_uc003zvu.2_Missense_Mutation_p.L647V|C9orf131_uc003zvv.2_Missense_Mutation_p.L622V|C9orf131_uc003zvx.2_Missense_Mutation_p.L660V NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 695 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTCTACTCCTCTACCAGAGCC 0.562 NA 13 30 0 0 0 0 ECM2 1842 broad.mit.edu 37 9 95256393 95256393 + Missense_Mutation SNP C C T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:95256393C>T uc004asf.3 - 10 2054 c.1904G>A c.(1903-1905)AGA>AAA p.R635K CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor Error:Variant_position_missing_in_O94769_after_alignment cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 CACATCTGATCTGTTTGTCAC 0.413 NA 11 60 0 0 0 0 PAEP 5047 broad.mit.edu 37 9 138454276 138454276 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:138454276G>A uc004cge.1 + 2 277 c.233G>A c.(232-234)AGA>AAA p.R78K PAEP_uc010naw.1_Missense_Mutation_p.R56K|PAEP_uc010naz.2_RNA|PAEP_uc010nay.2_Missense_Mutation_p.R78K|PAEP_uc010nba.1_Missense_Mutation_p.R78K|PAEP_uc004cgd.1_Missense_Mutation_p.R78K|PAEP_uc011mdp.1_Missense_Mutation_p.R56K|PAEP_uc004cgg.1_Missense_Mutation_p.R78K|PAEP_uc010nbc.1_Missense_Mutation_p.R78K|PAEP_uc004cgf.1_Missense_Mutation_p.R78K NM_001018049 NP_001018059 P09466 PAEP_HUMAN glycodelin precursor 78 multicellular organismal development extracellular region binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GTTCTGCACAGATGGTGGGTT 0.622 NA 11 80 0 0 0 0 IL3RA 3563 broad.mit.edu 37 X 1471251 1471251 + Silent SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chrX:1471251G>A uc004cps.2 + 6 817 c.468G>A c.(466-468)ACG>ACA p.T156T IL3RA_uc011mhd.1_Silent_p.T78T NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 156 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACTACAAAACGGATGCTCAGG 0.602 NA 86 151 0 0 0 0 ZMAT1 84460 broad.mit.edu 37 X 101159303 101159303 + Missense_Mutation SNP T T C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chrX:101159303T>C uc011mrl.1 - 3 433 c.122A>G c.(121-123)GAC>GGC p.D41G ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:Variant_position_missing_in_A7MD47_after_alignment nucleus zinc ion binding ovary(1) 1 CCAAATGGCGTCTGTGAATAA 0.299 NA 8 15 0 0 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092296 151092296 + Missense_Mutation SNP G G A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chrX:151092296G>A uc004fez.2 + 3 316 c.160G>A c.(160-162)GTG>ATG p.V54M MAGEA4_uc004ffa.2_Missense_Mutation_p.V54M|MAGEA4_uc004ffb.2_Missense_Mutation_p.V54M|MAGEA4_uc004ffc.2_Missense_Mutation_p.V54M|MAGEA4_uc004ffd.2_Missense_Mutation_p.V54M NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 54 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCTGGAGGAAGTGCCTGCTGC 0.627 NA 40 10 0 0 0 0 FLNA 2316 broad.mit.edu 37 X 153596026 153596026 + Missense_Mutation SNP A A T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chrX:153596026A>T uc004fkk.2 - 4 952 c.703T>A c.(703-705)TGG>AGG p.W235R FLNA_uc010nuu.1_Missense_Mutation_p.W235R NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 235 CH 2.|Actin-binding. 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) ATGCCCAGCCAGTCATCCGCC 0.657 NA 60 23 0 0 0 0 TMSB4Y 9087 broad.mit.edu 37 Y 15816245 15816245 + Missense_Mutation SNP C C G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chrY:15816245C>G uc004ftb.2 + 1 799 c.30C>G c.(28-30)ATC>ATG p.I10M NM_004202 NP_004193 O14604 TYB4Y_HUMAN thymosin, beta 4, Y chromosome 10 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding 0 TGGCTGAGATCGAGAAATTCG 0.483 NA 4 5 0 0 0 0 NPHP4 261734 broad.mit.edu 37 1 5993234 5993237 + Frame_Shift_Del DEL TACC TACC - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr1:5993234_5993237delTACC uc001alq.1 - 10 1538_1541 c.1272_1275delGGTA c.(1270-1275)AAGGTAfs p.K424fs NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 424_425 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TGGCTGAGGGTACCTTGTAGACCA 0.5 NA 23 74 --- --- --- --- NA NA NA NA DIP2C 22982 broad.mit.edu 37 10 329222 329222 + Frame_Shift_Del DEL A A - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr10:329222delA uc001ifp.2 - 35 4374 c.4284delT c.(4282-4284)GATfs p.D1428fs NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1428 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTCCATTTGCATCTGTGAGCT 0.547 NA 12 99 --- --- --- --- NA NA NA NA CCND1 595 broad.mit.edu 37 11 69466013 69466021 + In_Frame_Del DEL CTTGCACAC CTTGCACAC - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr11:69466013_69466021delCTTGCACAC uc001opa.2 + 5 1060_1068 c.851_859delCTTGCACAC c.(850-861)GCTTGCACACCC>GCC p.CTP285del NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 285_287 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) gtggaCCTGGCTTGCACACCCACCGACGT 0.612 NA T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 6 7 --- --- --- --- NA NA NA NA RARG 5916 broad.mit.edu 37 12 53608326 53608338 + Frame_Shift_Del DEL ATAGCTGTCAGGT ATAGCTGTCAGGT - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:53608326_53608338delATAGCTGTCAGGT uc001sce.2 - 6 1013_1025 c.528_540delACCTGACAGCTAT c.(526-540)TCACCTGACAGCTATfs p.S176fs RARG_uc001scd.2_Frame_Shift_Del_p.S165fs|RARG_uc010sob.1_Frame_Shift_Del_p.S154fs|RARG_uc001scf.2_Frame_Shift_Del_p.S176fs|RARG_uc001scg.2_Frame_Shift_Del_p.S104fs|RARG_uc010soc.1_Frame_Shift_Del_p.S55fs|RARG_uc010sod.1_Frame_Shift_Del_p.S213fs NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 176_180 Hinge. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGCTCAGCTCATAGCTGTCAGGTGACCCTTCTT 0.559 NA 9 48 --- --- --- --- NA NA NA NA RAP1B 5908 broad.mit.edu 37 12 69042549 69042549 + Frame_Shift_Del DEL A A - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:69042549delA uc001sub.2 + 2 208 c.45delA c.(43-45)GGAfs p.G15fs RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Frame_Shift_Del_p.G15fs|RAP1B_uc010stf.1_Frame_Shift_Del_p.G15fs|RAP1B_uc010stg.1_Frame_Shift_Del_p.G15fs|RAP1B_uc010sth.1_Frame_Shift_Del_p.G15fs|RAP1B_uc010sti.1_Frame_Shift_Del_p.G15fs NM_001089704 NP_001083173 P61224 RAP1B_HUMAN SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family; 15 GTP. blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding 0 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) GAGGCGTTGGAAAGTCTGCTT 0.363 NA 13 33 --- --- --- --- NA NA NA NA TESC 54997 broad.mit.edu 37 12 117479755 117479755 + Frame_Shift_Del DEL C C - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr12:117479755delC uc001twh.2 - 7 728 c.723delG c.(721-723)CTGfs p.L241fs TESC_uc001twi.2_RNA NM_017899 NP_060369 Q96BS2 TESC_HUMAN tescalcin 188 negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding 0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0297) CACCCACCTTCAGGAAGTCCT 0.632 NA 2 4 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179458509 179458510 + Frame_Shift_Ins INS - - T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:179458509_179458510insT uc010zfg.1 - 247 51037_51038 c.50813_50814insA c.(50812-50814)GATfs p.D16938fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Ins_p.D10633fs|TTN_uc010zfi.1_Frame_Shift_Ins_p.D10566fs|TTN_uc010zfj.1_Frame_Shift_Ins_p.D10441fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17865 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) TGCCTCCATCATCTAAAGGAGG 0.416 NA 19 41 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179616191 179616192 + Frame_Shift_Ins INS - - T TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:179616191_179616192insT uc002unb.2 - 46 11159_11160 c.10935_10936insA c.(10933-10938)AAACAAfs p.K3645fs TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 9490_Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCACATCTTGTTTTTTGTTAA 0.371 NA 47 95 --- --- --- --- NA NA NA NA C2orf83 56918 broad.mit.edu 37 2 228476153 228476165 + Frame_Shift_Del DEL TCTTGTGGCTTCT TCTTGTGGCTTCT - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr2:228476153_228476165delTCTTGTGGCTTCT uc002vph.2 - 3 633_645 c.398_410delAGAAGCCACAAGA c.(397-411)AAGAAGCCACAAGATfs p.K133fs C2orf83_uc010zlu.1_3'UTR NM_020161 NP_064546 Q53S99 CB083_HUMAN hypothetical protein LOC56918 isoform 1 133_137 membrane folic acid binding|reduced folate carrier activity 0 GAGCACCGAATCTTGTGGCTTCTTGTTCTCTGT 0.493 NA 9 89 --- --- --- --- NA NA NA NA PTPRT 11122 broad.mit.edu 37 20 41306573 41306573 + Frame_Shift_Del DEL G G - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr20:41306573delG uc002xkg.2 - 7 1270 c.1086delC c.(1084-1086)CTCfs p.L362fs PTPRT_uc010ggj.2_Frame_Shift_Del_p.L362fs NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 362 Extracellular (Potential).|Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTGGTCGTGTGAGGAGCACTC 0.567 NA 24 106 --- --- --- --- NA NA NA NA LYAR 55646 broad.mit.edu 37 4 4270287 4270287 + Frame_Shift_Del DEL A A - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr4:4270287delA uc011bvy.1 - 9 1118 c.975delT c.(973-975)AATfs p.N325fs LYAR_uc011bvx.1_Frame_Shift_Del_p.N208fs|LYAR_uc003ght.2_Frame_Shift_Del_p.N325fs NM_001145725 NP_001139197 Q9NX58 LYAR_HUMAN Ly1 antibody reactive homolog 325 Lys-rich. nucleolus metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGTTATTTCATTGTCTGGGG 0.333 NA 10 100 --- --- --- --- NA NA NA NA HIST1H1C 3006 broad.mit.edu 37 6 26056548 26056549 + Frame_Shift_Ins INS - - A rs10425 byFrequency TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr6:26056548_26056549insA uc003nfw.2 - 1 151_152 c.108_109insT c.(106-111)TCTGGTfs p.S36fs NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 36_37 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 ACCGGGGGACCAGACGCCTTAC 0.634 NA 39 15 --- --- --- --- NA NA NA NA POR 5447 broad.mit.edu 37 7 75612906 75612907 + Frame_Shift_Ins INS - - G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr7:75612906_75612907insG uc003udy.2 + 9 981_982 c.899_900insG c.(898-900)GAGfs p.E300fs POR_uc011kgc.1_Frame_Shift_Ins_p.E108fs|POR_uc011kgd.1_Frame_Shift_Ins_p.E199fs|POR_uc011kge.1_Frame_Shift_Ins_p.E38fs|POR_uc003uea.2_5'Flank NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 297 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) CAGGGAACCGAGCGCCACCTCA 0.599 NA 23 82 --- --- --- --- NA NA NA NA C9orf173 441476 broad.mit.edu 37 9 140145786 140145788 + In_Frame_Del DEL CAT CAT - TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22b32736-3b91-4542-affa-46fa90819e69 2b352deb-ee25-4b74-bcb0-be4e445970d2 g.chr9:140145786_140145788delCAT uc004cmk.1 + 1 57_59 c.45_47delCAT c.(43-48)TACATC>TAC p.I16del C9orf173_uc004cmj.1_In_Frame_Del_p.I17del|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_In_Frame_Del_p.I16del|C9orf173_uc004cml.1_In_Frame_Del_p.I16del Q8N7X2 CI173_HUMAN SubName: Full=LOC441476 protein; 17 pancreas(1) 1 CAAATTTTTACATCAATGGAGGC 0.567 NA 138 40 --- --- --- --- NA NA NA NA