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 filter RERE 473 broad.mit.edu 37 1 8418644 8418644 + Silent SNP C A A rs11121172 byFrequency TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:8418644C>A uc001ape.2 - 21 4761 c.3951G>T c.(3949-3951)CGG>CGT p.R1317R RERE_uc001apf.2_Silent_p.R1317R|RERE_uc001apd.2_Silent_p.R763R NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1317 Arg/Glu-rich (mixed charge). multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCCGCAGCTCCCGCTCTCGGA 0.682 3 39 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22200485 22200485 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:22200485G>C uc001bfj.2 - 29 3716 c.3676C>G c.(3676-3678)CTG>GTG p.L1226V HSPG2_uc009vqd.2_Missense_Mutation_p.L1227V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1226 Laminin EGF-like 7. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCTGTGTCCAGAAAACAAGTG 0.637 3 16 --- --- --- --- PASS LUZP1 7798 broad.mit.edu 37 1 23419764 23419764 + Missense_Mutation SNP T G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:23419764T>G uc001bgk.2 - 4 1375 c.991A>C c.(991-993)AAT>CAT p.N331H LUZP1_uc010odv.1_Missense_Mutation_p.N331H|LUZP1_uc001bgl.2_Missense_Mutation_p.N331H|LUZP1_uc001bgm.1_Missense_Mutation_p.N331H NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 331 Potential. nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTGTTTTTATTTTGTTCACTT 0.343 38 259 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34190152 34190152 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:34190152T>C uc001bxn.1 - 18 2758 c.2729A>G c.(2728-2730)AAC>AGC p.N910S CSMD2_uc001bxm.1_Missense_Mutation_p.N950S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 910 Sushi 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACTGGAAGTTGGGCTCACA 0.597 3 71 --- --- --- --- PASS ZMYM6 9204 broad.mit.edu 37 1 35480744 35480744 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:35480744C>G uc001byh.2 - 5 676 c.448G>C c.(448-450)GAT>CAT p.D150H ZMYM6_uc001byf.1_Missense_Mutation_p.D150H|ZMYM6_uc010oht.1_Missense_Mutation_p.D53H|ZMYM6_uc009vup.2_5'UTR|ZMYM6_uc009vuq.1_Missense_Mutation_p.D150H|ZMYM6_uc009vur.1_5'UTR NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 150 MYM-type 1. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GTGATCACATCCTTAGGATTT 0.338 3 73 --- --- --- --- PASS CC2D1B 200014 broad.mit.edu 37 1 52825395 52825395 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:52825395C>A uc001ctq.1 - 8 1062 c.924G>T c.(922-924)GAG>GAT p.E308D CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'UTR NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 308 ovary(2) 2 TCCTCATGAGCTCTCGGGCAC 0.423 4 14 --- --- --- --- PASS TYW3 127253 broad.mit.edu 37 1 75204423 75204423 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:75204423C>T uc001dgn.2 + 3 394 c.305C>T c.(304-306)CCA>CTA p.P102L TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 102 tRNA processing methyltransferase activity p.P102R(1) ovary(2) 2 AAATTTGAACCATTTGTTCTT 0.363 29 75 --- --- --- --- PASS EPHX4 253152 broad.mit.edu 37 1 92511107 92511107 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:92511107T>C uc001don.2 + 4 598 c.494T>C c.(493-495)CTT>CCT p.L165P NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 165 integral to membrane hydrolase activity central_nervous_system(1) 1 AAATGTGTTCTTATTGGCCAT 0.373 24 276 --- --- --- --- PASS BCAR3 8412 broad.mit.edu 37 1 94027879 94027879 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:94027879C>G uc001dpz.2 - 12 2672 c.2397G>C c.(2395-2397)GAG>GAC p.E799D BCAR3_uc001dqa.2_Missense_Mutation_p.E799D|BCAR3_uc001dqb.2_Missense_Mutation_p.E799D|BCAR3_uc001dpx.3_Missense_Mutation_p.E475D|BCAR3_uc001dpy.2_Missense_Mutation_p.E708D NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 799 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TCTCATATCTCTCTGTCTGAT 0.418 63 207 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99772302 99772302 + Silent SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:99772302G>C uc001dse.2 + 7 2134 c.2028G>C c.(2026-2028)CTG>CTC p.L676L LPPR4_uc010oue.1_Silent_p.L618L NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 676 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GTGAGTCTCTGAAAGACAGCT 0.522 13 41 --- --- --- --- PASS WDR3 10885 broad.mit.edu 37 1 118491082 118491082 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:118491082G>T uc010oxe.1 + 13 1543 c.1477G>T c.(1477-1479)GAT>TAT p.D493Y WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 493 WD 8. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GGAGACAATAGATGCACATGA 0.478 12 89 --- --- --- --- PASS TRIM46 80128 broad.mit.edu 37 1 155148067 155148067 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:155148067G>A uc001fhs.1 + 2 352 c.269G>A c.(268-270)CGC>CAC p.R90H RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.R77H|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R90H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.R67H|TRIM46_uc009wpg.1_Missense_Mutation_p.R77H|TRIM46_uc009wpf.2_Missense_Mutation_p.R77H|TRIM46_uc001fhv.3_Missense_Mutation_p.R77H|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 90 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) CGCAGCCCCCGCCTCTCCCGC 0.672 13 54 --- --- --- --- PASS CADM3 57863 broad.mit.edu 37 1 159163779 159163779 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:159163779G>C uc001ftl.2 + 5 782 c.640G>C c.(640-642)GAA>CAA p.E214Q CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.E248Q NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 214 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) TGTGAACCATGAATCTCTAAA 0.498 20 69 --- --- --- --- PASS DARS2 55157 broad.mit.edu 37 1 173802512 173802512 + Splice_Site SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:173802512A>G uc001gjh.1 + 6 903 c.493_splice c.e6-2 p.K165_splice NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) CAATTTCTTTAGAAAACAGAG 0.313 6 18 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175046622 175046622 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:175046622C>T uc001gkl.1 + 2 181 c.68C>T c.(67-69)TCG>TTG p.S23L TNN_uc010pmx.1_Missense_Mutation_p.S23L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 23 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) CTGGTGGCTTCGGCCCCAGCC 0.592 15 62 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186072603 186072603 + Splice_Site SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:186072603G>A uc001grq.1 + 69 10803 c.10574_splice c.e69-1 p.E3525_splice NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCTTTAAATAGAACCACCTCA 0.338 37 113 --- --- --- --- PASS EXOC8 149371 broad.mit.edu 37 1 231473325 231473325 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:231473325G>C uc001huq.2 - 1 254 c.167C>G c.(166-168)GCG>GGG p.A56G C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 56 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CAGGTTCTGCGCCGTCTCCTC 0.642 3 81 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237494252 237494252 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:237494252G>T uc001hyl.1 + 3 363 c.243G>T c.(241-243)ATG>ATT p.M81I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 81 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCAGGAGATGCTGGCTAACA 0.488 29 78 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237819249 237819249 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:237819249A>G uc001hyl.1 + 53 8214 c.8094A>G c.(8092-8094)GAA>GAG p.E2698E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2698 Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGATTCTGAAGGGAACTTTA 0.403 18 45 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248487030 248487030 + Missense_Mutation SNP C T T rs143090101 byFrequency TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr1:248487030C>T uc010pzk.1 - 1 841 c.841G>A c.(841-843)GTC>ATC p.V281I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGGGAGTGACGATGGTGTAG 0.453 42 103 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7154628 7154628 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:7154628A>T uc002qys.2 + 4 621 c.179A>T c.(178-180)GAA>GTA p.E60V RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 60 RING-type 1; atypical. Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GAAGGATTAGAAACTGCAATT 0.443 54 131 --- --- --- --- PASS NTSR2 23620 broad.mit.edu 37 2 11802132 11802132 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:11802132G>A uc002rbq.3 - 2 933 c.859C>T c.(859-861)CGC>TGC p.R287C NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 287 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CGGATCCGGCGCACGTCTTTA 0.493 68 160 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24929797 24929797 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:24929797C>T uc002rfk.2 + 11 1716 c.1458C>T c.(1456-1458)TTC>TTT p.F486F NCOA1_uc010eye.2_Silent_p.F486F|NCOA1_uc002rfi.2_Silent_p.F335F|NCOA1_uc002rfj.2_Silent_p.F486F|NCOA1_uc002rfl.2_Silent_p.F486F NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 486 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGCACAGTTCATGTCTCCAA 0.448 T PAX3 alveolar rhadomyosarcoma 46 118 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50765611 50765611 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:50765611C>A uc010fbq.2 - 10 3520 c.2043G>T c.(2041-2043)GTG>GTT p.V681V NRXN1_uc002rxb.3_Silent_p.V313V|NRXN1_uc002rxe.3_Silent_p.V641V|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGATGCAGCCCACGTAGCCAT 0.522 36 171 --- --- --- --- PASS MEIS1 4211 broad.mit.edu 37 2 66668595 66668595 + Missense_Mutation SNP A C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:66668595A>C uc002sdu.2 + 5 939 c.482A>C c.(481-483)AAG>ACG p.K161T MEIS1_uc002sdt.2_Missense_Mutation_p.K161T|MEIS1_uc002sdv.2_Missense_Mutation_p.K159T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.K96T|MEIS1_uc002sdw.1_Missense_Mutation_p.K17T NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 161 sequence-specific DNA binding transcription factor activity 0 GAATTAGAGAAGGTAATTTCT 0.413 4 9 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79971593 79971593 + Silent SNP T G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:79971593T>G uc010ysh.1 + 2 188 c.183T>G c.(181-183)GCT>GCG p.A61A CTNNA2_uc010yse.1_Silent_p.A61A|CTNNA2_uc010ysf.1_Silent_p.A61A|CTNNA2_uc010ysg.1_Silent_p.A61A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 61 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATGTACTAGCTGCCTCTGTAG 0.443 17 39 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80782969 80782969 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:80782969G>A uc010ysh.1 + 11 1697 c.1692G>A c.(1690-1692)GGG>GGA p.G564G CTNNA2_uc010yse.1_Silent_p.G564G|CTNNA2_uc010ysf.1_Silent_p.G564G|CTNNA2_uc010ysg.1_Silent_p.G564G|CTNNA2_uc010ysi.1_Silent_p.G196G NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 564 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATGAAGCTGGGGTTTATACTG 0.488 12 218 --- --- --- --- PASS TGFBRAP1 9392 broad.mit.edu 37 2 105889313 105889313 + Silent SNP G A A rs61738978 TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:105889313G>A uc002tcq.2 - 10 2055 c.1971C>T c.(1969-1971)CTC>CTT p.L657L TGFBRAP1_uc010fjc.2_Silent_p.L426L|TGFBRAP1_uc002tcr.3_Silent_p.L657L NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 657 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 CATCCTCACCGAGAAGAAAGT 0.552 20 47 --- --- --- --- PASS TFCP2L1 29842 broad.mit.edu 37 2 122007221 122007221 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:122007221G>C uc002tmx.2 - 3 310 c.217C>G c.(217-219)CAG>GAG p.Q73E TFCP2L1_uc010flr.2_Missense_Mutation_p.Q73E NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 73 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) TCATAAGACTGACCTGGATGG 0.443 21 132 --- --- --- --- PASS RAB3GAP1 22930 broad.mit.edu 37 2 135920135 135920135 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:135920135A>T uc002tuj.2 + 20 2325 c.2300A>T c.(2299-2301)TAT>TTT p.Y767F RAB3GAP1_uc010fnf.2_Missense_Mutation_p.Y767F|RAB3GAP1_uc010fng.2_Missense_Mutation_p.Y592F|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 767 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) GTGCTGCACTATCTGGCAATC 0.483 6 72 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152427027 152427027 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:152427027C>A uc010fnx.2 - 80 12190 c.11999G>T c.(11998-12000)AGG>ATG p.R4000M NEB_uc002txr.2_Missense_Mutation_p.R423M NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4000 Nebulin 109. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCAATCTCCCTGGAGGCCTT 0.522 4 15 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159537068 159537068 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:159537068C>G uc002tzv.2 + 22 3718 c.3458C>G c.(3457-3459)TCT>TGT p.S1153C PKP4_uc002tzw.2_Missense_Mutation_p.S1110C|PKP4_uc002tzx.2_Missense_Mutation_p.S810C|PKP4_uc002uaa.2_Missense_Mutation_p.S962C|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.S334C|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1153 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TTTCCAGCTTCTACTGATTAC 0.393 HNSCC(62;0.18) 26 272 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165984340 165984340 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:165984340C>G uc002ucx.2 - 18 3686 c.3194G>C c.(3193-3195)AGA>ACA p.R1065T SCN3A_uc002ucy.2_Missense_Mutation_p.R1016T|SCN3A_uc002ucz.2_Missense_Mutation_p.R1016T|SCN3A_uc002uda.1_Missense_Mutation_p.R885T|SCN3A_uc002udb.1_Missense_Mutation_p.R885T NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1065 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ATTCCCATCTCTAAGATAATT 0.363 19 181 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170103423 170103423 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:170103423G>A uc002ues.2 - 21 3195 c.2982C>T c.(2980-2982)TTC>TTT p.F994F LRP2_uc010zdf.1_Silent_p.F857F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 994 EGF-like 4.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACTCGCTGGAAATTTGGCA 0.557 26 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179411914 179411914 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:179411914C>G uc010zfg.1 - 289 86858 c.86634G>C c.(86632-86634)GAG>GAC p.E28878D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22573D|TTN_uc010zfi.1_Missense_Mutation_p.E22506D|TTN_uc010zfj.1_Missense_Mutation_p.E22381D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29805 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) GTTCTTTCTTCTCAACCCAGT 0.433 96 228 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179449653 179449653 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:179449653A>G uc010zfg.1 - 259 57235 c.57011T>C c.(57010-57012)ATA>ACA p.I19004T uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12699T|TTN_uc010zfi.1_Missense_Mutation_p.I12632T|TTN_uc010zfj.1_Missense_Mutation_p.I12507T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19931 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) ATCAGCGTCTATATCAGAAAT 0.458 47 145 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179497054 179497054 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:179497054C>T uc010zfg.1 - 185 36087 c.35863G>A c.(35863-35865)GAT>AAT p.D11955N TTN_uc010zfh.1_Missense_Mutation_p.D5650N|TTN_uc010zfi.1_Missense_Mutation_p.D5583N|TTN_uc010zfj.1_Missense_Mutation_p.D5458N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12882 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) CGGATGTTATCATGAGATAAC 0.428 8 27 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605601 179605601 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:179605601T>C uc010zfh.1 - 46 12070 c.11846A>G c.(11845-11847)CAA>CGA p.Q3949R TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.Q3882R|TTN_uc010zfj.1_Missense_Mutation_p.Q3757R|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGCTTGTCTTGCTCCAAAAT 0.448 76 192 --- --- --- --- PASS SLC39A10 57181 broad.mit.edu 37 2 196548476 196548476 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:196548476C>T uc002utg.3 + 3 1276 c.1062C>T c.(1060-1062)CCC>CCT p.P354P SLC39A10_uc002uth.3_Silent_p.P354P|SLC39A10_uc010zgp.1_5'UTR NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 354 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) CCAACTCTCCCATCTCAACTG 0.338 45 186 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211515145 211515145 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:211515145G>T uc002vee.3 + 28 3595 c.3463G>T c.(3463-3465)GCG>TCG p.A1155S CPS1_uc010fur.2_Missense_Mutation_p.A1161S|CPS1_uc010fus.2_Missense_Mutation_p.A704S NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1155 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTAGAAGAGGCGACTAGAGT 0.368 11 145 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211542649 211542649 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:211542649C>T uc002vee.3 + 38 4575 c.4443C>T c.(4441-4443)CGC>CGT p.R1481R CPS1_uc010fur.2_Silent_p.R1487R|CPS1_uc010fus.2_Silent_p.R1030R NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1481 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGAAATCTCGCAAGGTGGACT 0.428 133 406 --- --- --- --- PASS ACCN4 55515 broad.mit.edu 37 2 220401788 220401788 + Silent SNP G A A rs142124538 byFrequency TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:220401788G>A uc002vma.2 + 6 1568 c.1554G>A c.(1552-1554)CGG>CGA p.R518R ACCN4_uc002vlz.2_Silent_p.R537R|ACCN4_uc002vmb.2_Silent_p.R191R NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 518 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) GTCTCCACAGGGAGAACTTCC 0.577 32 91 --- --- --- --- PASS STK11IP 114790 broad.mit.edu 37 2 220471540 220471540 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:220471540C>T uc002vml.2 + 12 1170 c.1127C>T c.(1126-1128)TCA>TTA p.S376L STK11IP_uc010zll.1_Missense_Mutation_p.S333L|STK11IP_uc002vmm.1_Missense_Mutation_p.S365L NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 376 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCTCTCCTCAGGGGGTGTT 0.627 24 44 --- --- --- --- PASS ACSL3 2181 broad.mit.edu 37 2 223773836 223773836 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:223773836G>C uc002vni.2 + 4 797 c.346G>C c.(346-348)GAA>CAA p.E116Q ACSL3_uc002vnj.2_Missense_Mutation_p.E116Q NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 116 Cytoplasmic (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TGAGGAAGATGAAGTACAACC 0.299 T ETV1 prostate 28 70 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230678586 230678586 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:230678586C>G uc002vpw.1 - 12 1951 c.1842G>C c.(1840-1842)CAG>CAC p.Q614H TRIP12_uc002vpx.1_Missense_Mutation_p.Q662H|TRIP12_uc002vpy.1_Missense_Mutation_p.Q317H|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.Q620H NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 614 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CATATTTTACCTGATGTGTTA 0.274 20 74 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242432343 242432343 + Splice_Site SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr2:242432343G>A uc002wbi.1 + 25 2905 c.2788_splice c.e25-1 p.N930_splice NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TTTATTGACAGAACCAGCTTT 0.463 14 127 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1363395 1363395 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:1363395T>C uc003boz.2 + 8 1090 c.823T>C c.(823-825)TAC>CAC p.Y275H CNTN6_uc011asj.1_Missense_Mutation_p.Y203H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y275H NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 275 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAAAGTCAAGTACAGCAAATC 0.453 84 137 --- --- --- --- PASS FBXL2 25827 broad.mit.edu 37 3 33400471 33400471 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:33400471C>G uc003cfp.2 + 3 149 c.78C>G c.(76-78)TTC>TTG p.F26L FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|FBXL2_uc011axs.1_RNA NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 26 F-box. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity large_intestine(1) 1 TATTTTCCTTCTTGGATATAG 0.313 13 28 --- --- --- --- PASS CX3CR1 1524 broad.mit.edu 37 3 39307160 39307160 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:39307160C>A uc003cjl.2 - 2 933 c.841G>T c.(841-843)GTT>TTT p.V281F NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 281 Helical; Name=7; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CTAAATGCAACCGTCTCAGTC 0.473 33 86 --- --- --- --- PASS SETD2 29072 broad.mit.edu 37 3 47129614 47129614 + Nonsense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:47129614C>A uc003cqs.2 - 10 5319 c.5266G>T c.(5266-5268)GAA>TAA p.E1756* SETD2_uc003cqv.2_Nonsense_Mutation_p.E1823* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1756 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGTATGAGTTCCAGACAGGTA 0.378 N|F|S|Mis clear cell renal carcinoma 64 100 --- --- --- --- PASS KLHL18 23276 broad.mit.edu 37 3 47382151 47382151 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:47382151C>T uc003crd.2 + 8 1337 c.1211C>T c.(1210-1212)TCA>TTA p.S404L KLHL18_uc011bav.1_Missense_Mutation_p.S292L NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 404 Kelch 3. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GAGACCTACTCACCTGAGACG 0.483 6 144 --- --- --- --- PASS SCAP 22937 broad.mit.edu 37 3 47455557 47455557 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:47455557G>C uc003crh.1 - 23 3882 c.3627C>G c.(3625-3627)ATC>ATG p.I1209M SCAP_uc011baz.1_Missense_Mutation_p.I953M|SCAP_uc003crg.2_Missense_Mutation_p.I816M|uc003cri.2_5'Flank NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 1209 Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 7. cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GGTTGTCTGAGATGACACCCA 0.547 30 51 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107492023 107492023 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:107492023C>T uc010hpr.2 + 11 1782 c.1455C>T c.(1453-1455)AGC>AGT p.S485S BBX_uc003dwk.3_Silent_p.S485S|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.S506S|BBX_uc003dwm.3_Silent_p.S485S|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 485 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) ACATTGAGAGCGTCATATATA 0.453 13 162 --- --- --- --- PASS CD200R1L 344807 broad.mit.edu 37 3 112546226 112546226 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:112546226G>A uc003dzi.1 - 3 644 c.418C>T c.(418-420)CTC>TTC p.L140F CD200R1L_uc011bhw.1_Missense_Mutation_p.L119F|CD200R1L_uc010hqf.1_Missense_Mutation_p.L119F NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 140 Extracellular (Potential).|Ig-like C2-type. integral to membrane receptor activity ovary(1) 1 AACACTTGGAGGTGATATCCA 0.438 21 288 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122629801 122629801 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:122629801G>A uc003efz.1 - 22 3487 c.3183C>T c.(3181-3183)CAC>CAT p.H1061H SEMA5B_uc011bju.1_Silent_p.H967H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.H1061H|SEMA5B_uc003efy.1_Silent_p.H39H NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 1061 Cytoplasmic (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GACGCTGGCAGTGCTGGCAAG 0.582 33 78 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130289871 130289871 + Nonsense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:130289871G>T uc010htl.2 + 6 2642 c.2611G>T c.(2611-2613)GAG>TAG p.E871* NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 871 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CACAAAACTGGAGGTAATTTC 0.507 13 62 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133472451 133472451 + Missense_Mutation SNP G A A rs121918681 TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:133472451G>A uc003epu.1 + 8 1957 c.229G>A c.(229-231)GAT>AAT p.D77N TF_uc011bls.1_Missense_Mutation_p.D77N|TF_uc011blt.1_5'UTR|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.D77N NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 77 Transferrin-like 1. D -> N (in ATRAF). cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AAACGAAGCGGATGCTGTGAC 0.522 19 80 --- --- --- --- PASS PPP2R3A 5523 broad.mit.edu 37 3 135759780 135759780 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:135759780A>T uc003eqv.1 + 4 2907 c.2342A>T c.(2341-2343)CAG>CTG p.Q781L PPP2R3A_uc011blz.1_Missense_Mutation_p.Q45L|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Q160L|PPP2R3A_uc011bma.1_RNA NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 781 EF-hand 1. protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 GTGACAGCACAGTCATTCATT 0.478 13 44 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140123518 140123518 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:140123518G>T uc003etn.2 + 4 737 c.547G>T c.(547-549)GCC>TCC p.A183S CLSTN2_uc003etm.2_Missense_Mutation_p.A183S NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 183 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GCAGGTGGAGGCCATTGACGA 0.522 HNSCC(16;0.037) 19 178 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140123519 140123519 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:140123519C>T uc003etn.2 + 4 738 c.548C>T c.(547-549)GCC>GTC p.A183V CLSTN2_uc003etm.2_Missense_Mutation_p.A183V NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 183 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CAGGTGGAGGCCATTGACGAG 0.517 HNSCC(16;0.037) 20 173 --- --- --- --- PASS SR140 23350 broad.mit.edu 37 3 142735709 142735709 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:142735709A>T uc003evh.1 + 6 561 c.462A>T c.(460-462)AGA>AGT p.R154S SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.R154S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.R154S NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 154 RNA processing nucleus nucleotide binding|RNA binding 0 ATGAAAAAAGAGGTAAAATCT 0.284 6 58 --- --- --- --- PASS HLTF 6596 broad.mit.edu 37 3 148759977 148759977 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:148759977C>A uc003ewq.1 - 19 2391 c.2173G>T c.(2173-2175)GCA>TCA p.A725S HLTF_uc003ewr.1_Missense_Mutation_p.A725S|HLTF_uc003ews.1_Missense_Mutation_p.A724S|HLTF_uc010hve.1_Missense_Mutation_p.A724S NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 725 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAAGACACTGCATTTGTAAGA 0.368 39 119 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164905718 164905718 + Silent SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:164905718G>C uc003fej.3 - 2 3345 c.2901C>G c.(2899-2901)CTC>CTG p.L967L SLITRK3_uc003fek.2_Silent_p.L967L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 967 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCAGGACTTCGAGGTAATCCG 0.388 HNSCC(40;0.11) 94 356 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179085308 179085308 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:179085308C>A uc003fjs.2 + 8 961 c.835C>A c.(835-837)CGT>AGT p.R279S MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.R307S|MFN1_uc010hxc.2_Missense_Mutation_p.R132S NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 279 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AGCACAGAATCGTATCTTCTT 0.413 24 79 --- --- --- --- PASS DVL3 1857 broad.mit.edu 37 3 183887879 183887879 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:183887879G>A uc003fms.2 + 14 1724 c.1584G>A c.(1582-1584)GGG>GGA p.G528G DVL3_uc011bqw.1_Silent_p.G511G|DVL3_uc003fmt.2_Silent_p.G199G|DVL3_uc003fmu.2_Silent_p.G360G NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 528 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CGCACCCGGGGGCCGCCCCTT 0.682 24 79 --- --- --- --- PASS SENP2 59343 broad.mit.edu 37 3 185316794 185316794 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:185316794A>G uc003fpn.2 + 4 511 c.340A>G c.(340-342)AAC>GAC p.N114D SENP2_uc011brv.1_Missense_Mutation_p.N104D|SENP2_uc011brw.1_Intron NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 114 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TGGATCCTGGAACAACATGCT 0.368 40 150 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186450324 186450324 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr3:186450324G>T uc011bsa.1 + 7 1003 c.791G>T c.(790-792)TGC>TTC p.C264F KNG1_uc003fqr.2_Missense_Mutation_p.C264F NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 264 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) ACCAAGATTTGCGTGGGCTGC 0.493 50 158 --- --- --- --- PASS MAN2B2 23324 broad.mit.edu 37 4 6611581 6611581 + Missense_Mutation SNP C T T rs140604370 byFrequency TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:6611581C>T uc003gjf.1 + 13 2099 c.2063C>T c.(2062-2064)CCG>CTG p.P688L MAN2B2_uc003gje.1_Missense_Mutation_p.P688L|MAN2B2_uc011bwf.1_Missense_Mutation_p.P637L NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 688 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 ACCCATGTGCCGCAGGGCCAT 0.602 12 61 --- --- --- --- PASS RASL11B 65997 broad.mit.edu 37 4 53728716 53728716 + Silent SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:53728716C>G uc003gzt.2 + 1 222 c.42C>G c.(40-42)CCC>CCG p.P14P NM_023940 NP_076429 Q9BPW5 RSLBB_HUMAN RAS-like family 11 member B 14 small GTPase mediated signal transduction membrane GTP binding|GTPase activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0302) CCGAGTACCCCGCGCCGGGCA 0.721 9 36 --- --- --- --- PASS GPRIN3 285513 broad.mit.edu 37 4 90170193 90170193 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:90170193G>T uc003hsm.1 - 2 1588 c.1069C>A c.(1069-1071)CAG>AAG p.Q357K NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 357 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) ACACGCAGCTGCTCTTGTTCA 0.592 53 57 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122301659 122301659 + Silent SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:122301659G>C uc010inj.1 - 1 523 c.144C>G c.(142-144)CTC>CTG p.L48L QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Silent_p.L48L|QRFPR_uc010inl.1_Silent_p.L48L NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 48 Helical; Name=1; (Potential). plasma membrane neuropeptide Y receptor activity 0 CGGTGAGCACGAGGGCCAGCT 0.652 4 21 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126412763 126412763 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:126412763A>G uc003ifj.3 + 17 14786 c.14786A>G c.(14785-14787)AAC>AGC p.N4929S FAT4_uc011cgp.1_Missense_Mutation_p.N3170S|FAT4_uc003ifi.1_Missense_Mutation_p.N2406S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4929 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGGACTTTCAACTGGGACAAC 0.532 21 46 --- --- --- --- PASS SH3RF1 57630 broad.mit.edu 37 4 170038713 170038713 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:170038713G>T uc003isa.1 - 9 2073 c.1738C>A c.(1738-1740)CAA>AAA p.Q580K SH3RF1_uc010irc.1_Missense_Mutation_p.Q280K NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 580 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) ACTGTCATTTGCCCCGTCATG 0.542 66 112 --- --- --- --- PASS MORF4 10934 broad.mit.edu 37 4 174537102 174537102 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:174537102A>T uc011cke.1 - 1 693 c.693T>A c.(691-693)CAT>CAA p.H231Q NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CAGCTTTCCGATGGTACTCAG 0.398 58 56 --- --- --- --- PASS SLC6A18 348932 broad.mit.edu 37 5 1242883 1242883 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:1242883T>C uc003jby.1 + 8 1159 c.1036T>C c.(1036-1038)TAC>CAC p.Y346H NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 346 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CAGGGACGACTACCCAGCCGT 0.602 35 186 --- --- --- --- PASS NDUFS6 4726 broad.mit.edu 37 5 1816017 1816017 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:1816017A>G uc003jcy.2 + 4 385 c.362A>G c.(361-363)CAG>CGG p.Q121R NM_004553 NP_004544 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 121 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1) 1 NADH(DB00157) CAGTTCAGACAGCACCACCAC 0.517 23 234 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13845038 13845038 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:13845038C>G uc003jfd.2 - 32 5221 c.5179G>C c.(5179-5181)GAG>CAG p.E1727Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1727 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) CCCAGAATCTCTAGAAGGGCA 0.448 Kartagener_syndrome 7 333 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16754955 16754955 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:16754955G>C uc003jft.3 - 19 2379 c.1911C>G c.(1909-1911)ATC>ATG p.I637M MYO10_uc010itx.2_Missense_Mutation_p.I260M NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 637 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TGTTTGGCTTGATACAGCGAA 0.428 10 47 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21752226 21752226 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:21752226C>G uc010iuc.2 - 12 2463 c.2005G>C c.(2005-2007)GAT>CAT p.D669H CDH12_uc011cno.1_Missense_Mutation_p.D629H|CDH12_uc003jgk.2_Missense_Mutation_p.D669H|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 669 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GCCTGGGTATCTTCCTCCCCA 0.468 HNSCC(59;0.17) 19 306 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488152 24488152 + Nonsense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:24488152C>A uc003jgr.1 - 12 2319 c.1987G>T c.(1987-1989)GGA>TGA p.G663* CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 663 Cytoplasmic (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) TCCTCCTCTCCACCACCCTCA 0.453 HNSCC(23;0.051) 51 242 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535363 24535363 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:24535363G>C uc003jgr.1 - 5 1004 c.672C>G c.(670-672)AAC>AAG p.N224K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 224 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) CTCTGTTCATGTTCGGTAAAG 0.408 HNSCC(23;0.051) 66 178 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33527326 33527326 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:33527326C>A uc003jia.1 - 24 4915 c.4752G>T c.(4750-4752)AGG>AGT p.R1584S ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1499S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1584 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCAACCGTTGCCTTCTTTGCC 0.527 HNSCC(64;0.19) 62 523 --- --- --- --- PASS PTGER4 5734 broad.mit.edu 37 5 40681532 40681532 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:40681532C>A uc003jlz.2 + 2 1029 c.437C>A c.(436-438)TCC>TAC p.S146Y NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 146 Helical; Name=4; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 GTCTATGCGTCCAACGTGCTC 0.582 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 285 --- --- --- --- PASS FBXO4 26272 broad.mit.edu 37 5 41927307 41927307 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:41927307A>G uc003jmq.2 + 2 438 c.382A>G c.(382-384)ATA>GTA p.I128V FBXO4_uc003jmp.2_Missense_Mutation_p.I128V|FBXO4_uc003jmr.2_Missense_Mutation_p.I128V NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 128 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AAAAAAGCCTATATCTGAGGT 0.343 116 310 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70844517 70844517 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:70844517A>G uc003kbp.1 + 33 7016 c.6753A>G c.(6751-6753)CCA>CCG p.P2251P BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2251 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGTATACACCAACAAGTATTC 0.313 24 208 --- --- --- --- PASS ARSB 411 broad.mit.edu 37 5 78181606 78181606 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:78181606G>A uc003kfq.2 - 5 2229 c.943C>T c.(943-945)CGA>TGA p.R315* ARSB_uc003kfr.3_Nonsense_Mutation_p.R315* NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 315 R -> Q (in MPS6; intermediate form). lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) TTTCTTCCTCGAAGGGGCCAG 0.517 75 128 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176673711 176673711 + Nonsense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:176673711C>T uc003mfr.3 + 10 4549 c.4411C>T c.(4411-4413)CGA>TGA p.R1471* NSD1_uc003mft.3_Nonsense_Mutation_p.R1202*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1368*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1119* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1471 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) GCCAAGGAAGCGAAAACGACA 0.413 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 5 67 --- --- --- --- PASS ZNF354C 30832 broad.mit.edu 37 5 178489082 178489082 + Silent SNP C T T rs149113509 TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:178489082C>T uc003mju.2 + 2 128 c.13C>T c.(13-15)CTG>TTG p.L5L NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGCTGTGGATCTGCTGTCTGC 0.512 25 150 --- --- --- --- PASS RUFY1 80230 broad.mit.edu 37 5 179007956 179007956 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr5:179007956G>C uc003mka.1 + 7 899 c.899G>C c.(898-900)AGA>ACA p.R300T RUFY1_uc003mkb.1_Missense_Mutation_p.R192T|RUFY1_uc003mkc.1_Missense_Mutation_p.R192T NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 300 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCATGAAAGAATTACTGAT 0.333 HNSCC(44;0.11) 25 44 --- --- --- --- PASS TUBB2A 7280 broad.mit.edu 37 6 3154115 3154115 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:3154115C>G uc003mvc.2 - 4 1406 c.1320G>C c.(1318-1320)GAG>GAC p.E440D TUBB2A_uc003mvb.2_Missense_Mutation_p.E433D|TUBB2A_uc003mvd.2_Missense_Mutation_p.E403D NM_001069 NP_001060 Q13885 TBB2A_HUMAN tubulin, beta 2 440 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity skin(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.0895) CGTCCTCGCCCTCCTCCTCCT 0.527 4 102 --- --- --- --- PASS BTN1A1 696 broad.mit.edu 37 6 26509079 26509079 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:26509079C>T uc003nif.3 + 7 1278 c.1258C>T c.(1258-1260)CGC>TGC p.R420C NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 420 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AGGGCCCCCACGCCGGGTTGG 0.502 13 80 --- --- --- --- PASS HLA-A 3105 broad.mit.edu 37 6 29911963 29911963 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:29911963G>A uc003nol.2 + 4 684 c.684G>A c.(682-684)TGG>TGA p.W228* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Nonsense_Mutation_p.W107*|HLA-A_uc003nok.2_Nonsense_Mutation_p.W107*|HLA-A_uc003non.2_Nonsense_Mutation_p.W228*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W228*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W228*|HLA-A_uc003nom.2_Nonsense_Mutation_p.W107*|HLA-A_uc010klp.2_Nonsense_Mutation_p.W200*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.W107*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.W107* NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 228 Extracellular (Potential).|Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGAGGTGCTGGGCCCTGGGCT 0.617 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 8 216 --- --- --- --- PASS SLC26A8 116369 broad.mit.edu 37 6 35949981 35949981 + Splice_Site SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:35949981C>G uc003olm.2 - 8 1054 c.943_splice c.e8-1 p.I315_splice SLC26A8_uc003oln.2_Splice_Site_p.I315_splice|SLC26A8_uc003oll.2_Splice_Site_p.I210_splice NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 AGCCAATAATCTGTAGGGGGT 0.433 52 58 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43410821 43410821 + Silent SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:43410821C>G uc003ouy.1 + 10 2555 c.2340C>G c.(2338-2340)CTC>CTG p.L780L ABCC10_uc003ouz.1_Silent_p.L752L|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 780 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CACGGCTGCTCTGCACCCACC 0.652 8 59 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993048 52993048 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:52993048G>T uc003pbp.2 - 6 1476 c.1267C>A c.(1267-1269)CAC>AAC p.H423N NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 423 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TTGTTGCAGTGATCCAAACCC 0.458 121 672 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993120 52993120 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:52993120G>A uc003pbp.2 - 6 1404 c.1195C>T c.(1195-1197)CAG>TAG p.Q399* NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 399 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) GAATATTGCTGATGAGGATGA 0.438 103 723 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993134 52993134 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:52993134G>T uc003pbp.2 - 6 1390 c.1181C>A c.(1180-1182)GCC>GAC p.A394D NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 394 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) AGGATGAGAGGCGTAGGTGAA 0.428 100 701 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993228 52993228 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:52993228G>C uc003pbp.2 - 6 1296 c.1087C>G c.(1087-1089)CTT>GTT p.L363V NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 363 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TCTTCATAAAGATTACCCGCT 0.478 46 264 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993240 52993240 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:52993240G>A uc003pbp.2 - 6 1284 c.1075C>T c.(1075-1077)CCA>TCA p.P359S NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 359 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TTACCCGCTGGATTTGGCCAT 0.478 40 238 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70993461 70993461 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:70993461A>G uc003pfg.3 - 6 918 c.759T>C c.(757-759)CAT>CAC p.H253H COL9A1_uc003pff.3_5'Flank NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 253 Nonhelical region (NC4). Zinc. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CTGGCAGCTCATGGCAAGTTT 0.522 12 26 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76582983 76582983 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:76582983A>G uc003pih.1 + 20 2322 c.2043A>G c.(2041-2043)GAA>GAG p.E681E MYO6_uc003pig.1_Silent_p.E681E|MYO6_uc003pii.1_Silent_p.E681E NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 681 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) ACCACTTTGAAGGTGCTCAAA 0.358 8 131 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123377156 123377156 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:123377156C>G uc003pzi.1 + 5 1750 c.881C>G c.(880-882)CCA>CGA p.P294R NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 294 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GAACTCTCCCCAAAGTCCATG 0.507 23 36 --- --- --- --- PASS LTV1 84946 broad.mit.edu 37 6 144165676 144165676 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:144165676C>G uc003qjs.2 + 2 164 c.57C>G c.(55-57)CAC>CAG p.H19Q NM_032860 NP_116249 Q96GA3 LTV1_HUMAN LTV1 homolog 19 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) TGTCTTTTCACTTGGTCCACC 0.428 25 277 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146216035 146216035 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:146216035G>C uc003qlf.2 - 26 4993 c.4594C>G c.(4594-4596)CTC>GTC p.L1532V SHPRH_uc003qld.2_Missense_Mutation_p.L1536V|SHPRH_uc003qle.2_Missense_Mutation_p.L1536V NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1532 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GAGAAAACGAGTGCTTTGGCC 0.383 39 472 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152576119 152576119 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:152576119C>A uc010kiw.2 - 104 19968 c.19366G>T c.(19366-19368)GAT>TAT p.D6456Y SYNE1_uc010kiv.2_Missense_Mutation_p.D980Y|SYNE1_uc003qos.3_Missense_Mutation_p.D980Y|SYNE1_uc003qot.3_Missense_Mutation_p.D6385Y|SYNE1_uc003qou.3_Missense_Mutation_p.D6456Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6456 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCAAAGTATCTTCAATAACA 0.358 HNSCC(10;0.0054) 49 67 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152576120 152576120 + Missense_Mutation SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr6:152576120T>A uc010kiw.2 - 104 19967 c.19365A>T c.(19363-19365)GAA>GAT p.E6455D SYNE1_uc010kiv.2_Missense_Mutation_p.E979D|SYNE1_uc003qos.3_Missense_Mutation_p.E979D|SYNE1_uc003qot.3_Missense_Mutation_p.E6384D|SYNE1_uc003qou.3_Missense_Mutation_p.E6455D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6455 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCAAAGTATCTTCAATAACAT 0.358 HNSCC(10;0.0054) 47 68 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14378241 14378241 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:14378241C>A uc003ssz.2 - 22 2211 c.2024G>T c.(2023-2025)GGA>GTA p.G675V DGKB_uc011jxt.1_Missense_Mutation_p.G656V|DGKB_uc003sta.2_Missense_Mutation_p.G675V|DGKB_uc011jxu.1_Missense_Mutation_p.G674V NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 675 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CTTAGACTCTCCCCAAAGATT 0.408 59 146 --- --- --- --- PASS TNS3 64759 broad.mit.edu 37 7 47409020 47409020 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:47409020C>A uc003tnv.2 - 17 1590 c.1223G>T c.(1222-1224)CGC>CTC p.R408L TNS3_uc003tnw.2_Missense_Mutation_p.R408L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 408 focal adhesion protein binding ovary(4) 4 TGGGGCCAGGCGCTCTTCCGT 0.627 33 71 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92985380 92985380 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:92985380C>T uc003umo.2 + 27 2891 c.2763C>T c.(2761-2763)ATC>ATT p.I921I CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.I891I|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.I641I NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 921 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AACGGTGGATCAAAGAGCACA 0.318 19 65 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113518175 113518175 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:113518175C>T uc010ljy.1 - 4 3003 c.2972G>A c.(2971-2973)AGA>AAA p.R991K NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 991 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GCCTATGCATCTTTCTTTTCT 0.388 74 179 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122261657 122261657 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:122261657C>A uc010lkp.2 - 5 1145 c.982G>T c.(982-984)GGT>TGT p.G328C CADPS2_uc003vkg.3_Missense_Mutation_p.G28C|CADPS2_uc010lkq.2_Missense_Mutation_p.G328C NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 328 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TCCGGACCACCTTTCGAAACT 0.363 25 174 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142606734 142606734 + Missense_Mutation SNP C T T rs143560130 TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:142606734C>T uc003wby.1 - 14 2081 c.1817G>A c.(1816-1818)CGG>CAG p.R606Q NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 606 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) AGGCAGCTTCCGCTCCAGCAT 0.612 15 52 --- --- --- --- PASS OR2A12 346525 broad.mit.edu 37 7 143792604 143792604 + Missense_Mutation SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:143792604T>A uc011kty.1 + 1 404 c.404T>A c.(403-405)ATG>AAG p.M135K NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) ACCCTCATTATGAACTGGAGA 0.438 9 316 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148801578 148801578 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:148801578C>A uc003wfj.2 - 4 1458 c.1385G>T c.(1384-1386)CGC>CTC p.R462L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 462 C2H2-type 9. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCTGTGCAGGCGCTGGTGGGC 0.672 5 78 --- --- --- --- PASS SLC4A2 6522 broad.mit.edu 37 7 150761614 150761614 + Nonsense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr7:150761614C>A uc003wit.3 + 4 475 c.219C>A c.(217-219)TAC>TAA p.Y73* SLC4A2_uc011kve.1_Nonsense_Mutation_p.Y64*|SLC4A2_uc003wiu.3_Nonsense_Mutation_p.Y59* NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 73 Cytoplasmic (Potential).|Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCCTGCAGACCACCGCCAGT 0.682 13 44 --- --- --- --- PASS SLC18A1 6570 broad.mit.edu 37 8 20031880 20031880 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:20031880G>C uc011kyq.1 - 6 1094 c.623C>G c.(622-624)TCT>TGT p.S208C SLC18A1_uc003wzl.2_5'Flank|SLC18A1_uc003wzm.2_Missense_Mutation_p.S208C|SLC18A1_uc011kyr.1_Missense_Mutation_p.S208C|SLC18A1_uc003wzn.2_Missense_Mutation_p.S208C|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.S208C NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 208 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) ACCTGCAACAGATGAAAATGA 0.438 19 59 --- --- --- --- PASS FAM160B2 64760 broad.mit.edu 37 8 21960417 21960417 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:21960417C>A uc011kyx.1 + 17 2258 c.2207C>A c.(2206-2208)TCC>TAC p.S736Y FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 736 0 CAGAACGTCTCCCCAGCCCCG 0.657 13 31 --- --- --- --- PASS ADAM32 203102 broad.mit.edu 37 8 39068795 39068795 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:39068795C>A uc003xmt.3 + 12 1430 c.1185C>A c.(1183-1185)GGC>GGA p.G395G ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 395 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CAGTCTGTGGCAATGGCAGAT 0.338 10 26 --- --- --- --- PASS IDO2 169355 broad.mit.edu 37 8 39840260 39840260 + Silent SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:39840260G>T uc010lwy.1 + 5 686 c.444G>T c.(442-444)CTG>CTT p.L148L IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 135 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 ACTTGGTGCTGACGAACTGGA 0.468 9 25 --- --- --- --- PASS GDAP1 54332 broad.mit.edu 37 8 75275219 75275219 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:75275219C>G uc003yah.2 + 5 704 c.625C>G c.(625-627)CTT>GTT p.L209V GDAP1_uc011lfj.1_Missense_Mutation_p.L94V|GDAP1_uc003yai.2_Missense_Mutation_p.L141V NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 209 GST C-terminal. cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) GAAGAAAATTCTTGATGAGTT 0.318 27 217 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110417312 110417312 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:110417312C>T uc003yne.2 + 16 1726 c.1622C>T c.(1621-1623)TCA>TTA p.S541L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 541 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAGCTAATTCATGTTCACTT 0.313 HNSCC(38;0.096) 4 12 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113418818 113418818 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:113418818G>A uc003ynu.2 - 35 5903 c.5744C>T c.(5743-5745)GCA>GTA p.A1915V CSMD3_uc003yns.2_Missense_Mutation_p.A1117V|CSMD3_uc003ynt.2_Missense_Mutation_p.A1875V|CSMD3_uc011lhx.1_Missense_Mutation_p.A1811V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1915 Sushi 10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACACCTAATTGCTATGGATCC 0.383 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 172 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139706804 139706804 + Nonsense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:139706804C>A uc003yvd.2 - 34 3094 c.2647G>T c.(2647-2649)GGA>TGA p.G883* COL22A1_uc011ljo.1_Nonsense_Mutation_p.G183* NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 883 Pro-rich.|Gly-rich.|Collagen-like 7. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCTGCAGTCCCTGTAAGCAC 0.572 HNSCC(7;0.00092) 25 74 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144993708 144993708 + Silent SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr8:144993708C>G uc003zaf.1 - 32 10862 c.10692G>C c.(10690-10692)CTG>CTC p.L3564L PLEC_uc003zab.1_Silent_p.L3427L|PLEC_uc003zac.1_Silent_p.L3431L|PLEC_uc003zad.2_Silent_p.L3427L|PLEC_uc003zae.1_Silent_p.L3395L|PLEC_uc003zag.1_Silent_p.L3405L|PLEC_uc003zah.2_Silent_p.L3413L|PLEC_uc003zaj.2_Silent_p.L3454L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3564 Plectin 14.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCTCGGCAGACAGCAGCTGCT 0.672 7 25 --- --- --- --- PASS MPDZ 8777 broad.mit.edu 37 9 13138074 13138074 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr9:13138074C>A uc010mia.1 - 28 4139 c.4082G>T c.(4081-4083)GGC>GTC p.G1361V MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.G66V|MPDZ_uc010mhx.2_Missense_Mutation_p.G183V|MPDZ_uc011lmm.1_Missense_Mutation_p.G220V|MPDZ_uc003zkz.3_Missense_Mutation_p.G54V|MPDZ_uc010mhy.2_Missense_Mutation_p.G1361V|MPDZ_uc010mhz.2_Missense_Mutation_p.G1328V|MPDZ_uc011lmn.1_Missense_Mutation_p.G1328V|MPDZ_uc003zlb.3_Missense_Mutation_p.G1361V NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1361 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) AAGACTTAGGCCCAAACCACT 0.438 20 33 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21974748 21974748 + Nonsense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr9:21974748C>A uc003zpk.2 - 1 291 c.79G>T c.(79-81)GAG>TAG p.E27* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.E27*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 27 ANK 1. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.E27*(1)|p.R22fs*14(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCCGCACCTCCTCTACCCGA 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 6 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79954514 79954514 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr9:79954514A>G uc004akr.2 + 48 6721 c.6461A>G c.(6460-6462)CAT>CGT p.H2154R VPS13A_uc004akp.3_Missense_Mutation_p.H2154R|VPS13A_uc004akq.3_Missense_Mutation_p.H2154R|VPS13A_uc004aks.2_Missense_Mutation_p.H2115R NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2154 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GCCAGGCTACATTTAAAATTA 0.333 14 36 --- --- --- --- PASS ZCCHC6 79670 broad.mit.edu 37 9 88943339 88943339 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr9:88943339G>C uc004aoq.2 - 11 1739 c.1524C>G c.(1522-1524)ATC>ATG p.I508M ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.I385M|ZCCHC6_uc004aou.2_Missense_Mutation_p.I508M NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 508 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TATGTTCCCAGATCACAACAT 0.398 104 281 --- --- --- --- PASS PTCH1 5727 broad.mit.edu 37 9 98244316 98244316 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr9:98244316C>T uc004avk.3 - 5 849 c.661G>A c.(661-663)GAA>AAA p.E221K PTCH1_uc010mro.2_Missense_Mutation_p.E70K|PTCH1_uc010mrp.2_Missense_Mutation_p.E70K|PTCH1_uc010mrq.2_Missense_Mutation_p.E70K|PTCH1_uc004avl.3_Missense_Mutation_p.E70K|PTCH1_uc010mrr.2_Missense_Mutation_p.E155K|PTCH1_uc004avm.3_Missense_Mutation_p.E220K|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.E155K|PTCH1_uc010mrv.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 221 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TAAAGATATTCTATTATCTGT 0.408 Basal_Cell_Nevus_syndrome 4 88 --- --- --- --- PASS ABL1 25 broad.mit.edu 37 9 133753888 133753888 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr9:133753888G>C uc004bzw.2 + 8 1360 c.1357G>C c.(1357-1359)GAG>CAG p.E453Q ABL1_uc004bzv.2_Missense_Mutation_p.E472Q NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 453 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.E453K(2)|p.E453D(1)|p.E453L(1) haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TGAGCTGCTAGAGAAGGACTA 0.507 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 28 410 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50531322 50531322 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr10:50531322C>T uc010qgp.1 + 3 1071 c.732C>T c.(730-732)ACC>ACT p.T244T NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 244 0 ACACGGCCACCTTATGTGAGT 0.552 11 7 --- --- --- --- PASS NCOA4 8031 broad.mit.edu 37 10 51582221 51582221 + Silent SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr10:51582221A>T uc001jis.3 + 6 722 c.519A>T c.(517-519)GCA>GCT p.A173A PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.A189A|NCOA4_uc010qhd.1_Silent_p.A189A|NCOA4_uc010qhe.1_Silent_p.A73A|NCOA4_uc010qhf.1_Silent_p.A7A|NCOA4_uc001jit.2_Silent_p.A173A|NCOA4_uc009xoo.2_Silent_p.A173A NM_001145263 NP_001138735 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 isoform 3 173 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity central_nervous_system(1)|kidney(1) 2 CTAGTTCAGCAAATATTGGGC 0.363 T RET papillary thyroid 38 92 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 54032153 54032153 + Missense_Mutation SNP C A A rs142314590 by1000genomes TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr10:54032153C>A uc001jjm.2 + 12 1464 c.1270C>A c.(1270-1272)CTG>ATG p.L424M PRKG1_uc001jjo.2_Missense_Mutation_p.L439M|PRKG1_uc009xow.1_Missense_Mutation_p.L142M|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 424 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AATTTACAGACTGTACAGAAC 0.373 17 108 --- --- --- --- PASS C10orf28 27291 broad.mit.edu 37 10 99994210 99994210 + Nonsense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr10:99994210G>T uc001kow.3 + 6 2264 c.1969G>T c.(1969-1971)GGA>TGA p.G657* C10orf28_uc001kox.3_Nonsense_Mutation_p.G671*|C10orf28_uc001koy.3_Nonsense_Mutation_p.G657*|C10orf28_uc009xvx.2_Nonsense_Mutation_p.G657*|C10orf28_uc009xvy.2_Nonsense_Mutation_p.G63*|C10orf28_uc001koz.3_RNA NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 657 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) CAGAAAGAAAGGATTTGATAT 0.313 5 180 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120802129 120802129 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr10:120802129G>C uc001ldu.2 - 19 3049 c.2903C>G c.(2902-2904)CCT>CGT p.P968R EIF3A_uc010qsu.1_Missense_Mutation_p.P934R|EIF3A_uc009xzg.1_Missense_Mutation_p.P7R NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 968 Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|5. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ACCACGTCTAGGGCCTCTGTC 0.592 8 228 --- --- --- --- PASS ZNF215 7762 broad.mit.edu 37 11 6953621 6953621 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:6953621G>C uc001mey.2 + 3 706 c.118G>C c.(118-120)GAG>CAG p.E40Q ZNF215_uc010raw.1_Missense_Mutation_p.E40Q|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.E40Q NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 40 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CCCCGTCGTGGAGACACATGA 0.498 4 143 --- --- --- --- PASS PPFIBP2 8495 broad.mit.edu 37 11 7670765 7670765 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:7670765C>T uc001mfj.3 + 21 2389 c.2001C>T c.(1999-2001)AAC>AAT p.N667N PPFIBP2_uc010rbb.1_Silent_p.N590N|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.N601N|PPFIBP2_uc010rbe.1_Silent_p.N555N|PPFIBP2_uc001mfl.3_Silent_p.N524N|PPFIBP2_uc009yfj.1_Silent_p.N311N NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 667 SAM 2. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TCTTTCAGAACGATTTACTCT 0.443 109 294 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 20940796 20940796 + Splice_Site SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:20940796A>T uc001mqe.2 + 7 830 c.677_splice c.e7-2 p.T226_splice NELL1_uc001mqf.2_Splice_Site_p.T226_splice|NELL1_uc009yid.2_Splice_Site_p.T254_splice|NELL1_uc010rdo.1_Splice_Site_p.T169_splice|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ttCTTTATTGAGCTTGCCCAA 0.289 25 83 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22242675 22242675 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:22242675C>A uc001mqi.2 + 5 530 c.213C>A c.(211-213)ATC>ATA p.I71I ANO5_uc001mqj.2_Silent_p.I70I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 71 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AAGATTCTATCTTCTTCCGAG 0.348 23 80 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22291937 22291937 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:22291937G>T uc001mqi.2 + 18 2295 c.1978G>T c.(1978-1980)GAC>TAC p.D660Y ANO5_uc001mqj.2_Missense_Mutation_p.D659Y NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 660 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GCAGGATCATGACCTTGAAAG 0.423 74 185 --- --- --- --- PASS MAPK8IP1 9479 broad.mit.edu 37 11 45923588 45923588 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:45923588C>A uc001nbr.2 + 4 750 c.580C>A c.(580-582)CGA>AGA p.R194R NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 194 JNK-binding domain (JBD). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) TCGGGTGTCTCGATCATCCTC 0.527 9 362 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515930 51515930 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:51515930G>A uc010ric.1 + 1 649 c.649G>A c.(649-651)GTG>ATG p.V217M NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGTCTCCTATGTGGTCATCTT 0.502 26 136 --- --- --- --- PASS APLNR 187 broad.mit.edu 37 11 57003581 57003581 + Missense_Mutation SNP C A A rs7943508 byFrequency TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:57003581C>A uc001njo.2 - 1 1347 c.898G>T c.(898-900)GTC>TTC p.V300F APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 300 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 CAGCTGTTGACGTAGCTGATG 0.597 5 50 --- --- --- --- PASS ZDHHC5 25921 broad.mit.edu 37 11 57467477 57467477 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:57467477G>A uc001nkx.1 + 12 3378 c.2122G>A c.(2122-2124)GGT>AGT p.G708S ZDHHC5_uc001nky.1_Missense_Mutation_p.G655S|ZDHHC5_uc001nkz.1_Missense_Mutation_p.G522S NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 708 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 AGGGGTTGGTGGTACCACCTA 0.647 24 71 --- --- --- --- PASS SLC22A8 9376 broad.mit.edu 37 11 62761028 62761028 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:62761028G>T uc001nwo.2 - 10 1533 c.1397C>A c.(1396-1398)ACG>AAG p.T466K SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.T466K|SLC22A8_uc009yom.2_Missense_Mutation_p.T343K|SLC22A8_uc010rmm.1_Missense_Mutation_p.T375K|SLC22A8_uc009yon.2_Missense_Mutation_p.T466K NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 466 Cytoplasmic (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 TACCTCACCCGTGATTTTCAC 0.592 12 169 --- --- --- --- PASS GPR152 390212 broad.mit.edu 37 11 67219032 67219032 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:67219032G>A uc001olm.2 - 1 1169 c.1164C>T c.(1162-1164)GCC>GCT p.A388A uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 388 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCTGTGGCTGGGCTGTGGGAT 0.632 6 35 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76256898 76256898 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:76256898C>T uc001oxl.2 + 20 3474 c.3331C>T c.(3331-3333)CGC>TGC p.R1111C C11orf30_uc001oxm.2_Missense_Mutation_p.R1013C|C11orf30_uc010rsb.1_Missense_Mutation_p.R1126C|C11orf30_uc010rsc.1_Missense_Mutation_p.R1112C|C11orf30_uc001oxn.2_Missense_Mutation_p.R1112C|C11orf30_uc010rsd.1_Missense_Mutation_p.R1020C|C11orf30_uc010rse.1_Missense_Mutation_p.R358C|C11orf30_uc001oxp.2_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1111 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 TTTTGAGGGGCGCCAGCCTCC 0.453 19 174 --- --- --- --- PASS CHORDC1 26973 broad.mit.edu 37 11 89939369 89939369 + Splice_Site SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:89939369C>A uc001pdg.2 - 7 973 c.563_splice c.e7+1 p.G188_splice CHORDC1_uc009yvz.2_Splice_Site_p.G169_splice NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) GCATAAGTTACCCCTCATGGA 0.269 57 154 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100999559 100999559 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:100999559C>A uc001pgh.2 - 1 986 c.243G>T c.(241-243)TCG>TCT p.S81S PGR_uc001pgi.2_Silent_p.S81S|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 81 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTCCACGTCCGACAGCGACT 0.607 3 69 --- --- --- --- PASS SIK2 23235 broad.mit.edu 37 11 111558844 111558844 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:111558844G>C uc001plt.2 + 4 554 c.436G>C c.(436-438)GAA>CAA p.E146Q NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 146 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 CCTCAAAGCTGAAAATCTCCT 0.453 52 80 --- --- --- --- PASS HTR3A 3359 broad.mit.edu 37 11 113856854 113856854 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:113856854T>C uc010rxb.1 + 6 913 c.680T>C c.(679-681)TTC>TCC p.F227S HTR3A_uc010rxa.1_Missense_Mutation_p.F227S|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Missense_Mutation_p.F206S NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 221 Extracellular (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TTTCGGGAGTTCAGCATGGAA 0.478 11 410 --- --- --- --- PASS APOC3 345 broad.mit.edu 37 11 116701317 116701317 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:116701317C>G uc001ppt.1 + 2 65 c.19C>G c.(19-21)CTT>GTT p.L7V NM_000040 NP_000031 P02656 APOC3_HUMAN apolipoprotein C-III precursor 7 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCGGGTACTCCTTGTTGTTGC 0.657 11 64 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118376731 118376731 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:118376731C>G uc001pta.2 + 27 10138 c.10115C>G c.(10114-10116)ACC>AGC p.T3372S MLL_uc001ptb.2_Missense_Mutation_p.T3375S NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3372 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TTGCTTGGTACCCCAGATATT 0.483 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 42 470 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121028662 121028662 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr11:121028662G>A uc010rzo.1 + 13 4418 c.4418G>A c.(4417-4419)CGC>CAC p.R1473H NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1473 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGTGCGCTGCGCAACGGGGTG 0.667 15 78 --- --- --- --- PASS CLEC9A 283420 broad.mit.edu 37 12 10215734 10215734 + Missense_Mutation SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:10215734T>A uc001qxa.2 + 7 1013 c.400T>A c.(400-402)TGG>AGG p.W134R NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 134 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 TTGGAGCATTTGGCACACCAG 0.368 23 233 --- --- --- --- PASS PRB4 5545 broad.mit.edu 37 12 11461259 11461259 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:11461259G>T uc001qzf.1 - 3 692 c.658C>A c.(658-660)CCT>ACT p.P220T PRB4_uc001qzt.2_Missense_Mutation_p.P220T NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 283 extracellular region ovary(1) 1 TTTCCAGCAGGAGGTGCCTGA 0.632 HNSCC(22;0.051) 82 201 --- --- --- --- PASS PRB4 5545 broad.mit.edu 37 12 11461447 11461447 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:11461447G>A uc001qzf.1 - 3 504 c.470C>T c.(469-471)CCT>CTT p.P157L PRB4_uc001qzt.2_Missense_Mutation_p.P157L NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 220 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|9. extracellular region ovary(1) 1 TCCTGGATGAGGTGGGGGACC 0.602 HNSCC(22;0.051) 167 501 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20893186 20893186 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:20893186A>G uc001rej.3 + 13 1972 c.1617A>G c.(1615-1617)GGA>GGG p.G539G SLCO1C1_uc010sii.1_Silent_p.G539G|SLCO1C1_uc010sij.1_Silent_p.G490G|SLCO1C1_uc009zip.2_Silent_p.G373G|SLCO1C1_uc001rei.2_Silent_p.G539G|SLCO1C1_uc010sik.1_Silent_p.G421G NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 539 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GCATAGTGGGAAGATGTCAGA 0.393 72 186 --- --- --- --- PASS TM7SF3 51768 broad.mit.edu 37 12 27143425 27143425 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:27143425C>T uc010sjl.1 - 6 1064 c.826G>A c.(826-828)GCT>ACT p.A276T NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 276 integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) AAGCTGCAAGCGTATGTGTGA 0.458 50 116 --- --- --- --- PASS C12orf41 54934 broad.mit.edu 37 12 49075195 49075195 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:49075195T>C uc001rrx.2 - 2 296 c.221A>G c.(220-222)AAT>AGT p.N74S C12orf41_uc001rrw.2_5'Flank|C12orf41_uc001rrz.2_Missense_Mutation_p.N257S|C12orf41_uc001rry.2_RNA NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 74 ovary(2) 2 TGGGGCAGCATTGGGACATCT 0.418 27 74 --- --- --- --- PASS KRT8 3856 broad.mit.edu 37 12 53298547 53298547 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:53298547C>T uc001sbd.2 - 1 322 c.219G>A c.(217-219)CTG>CTA p.L73L KRT8_uc009zmj.2_Silent_p.L73L|KRT8_uc009zmk.1_Silent_p.L101L|KRT8_uc009zml.1_Silent_p.L73L|KRT8_uc009zmm.1_Silent_p.L73L NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 73 Head. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGGGGGCTCAGCAGGCTCT 0.627 10 91 --- --- --- --- PASS EIF4B 1975 broad.mit.edu 37 12 53431196 53431196 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:53431196C>T uc001sbh.3 + 11 1516 c.1310C>T c.(1309-1311)GCA>GTA p.A437V EIF4B_uc010snu.1_Missense_Mutation_p.A442V|EIF4B_uc010snv.1_Missense_Mutation_p.A398V|EIF4B_uc001sbi.2_Missense_Mutation_p.A189V NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 437 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 TTCACAGATGCACGAAGGAGA 0.448 7 33 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54379069 54379069 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:54379069C>T uc001sen.2 + 1 124 c.26C>T c.(25-27)CCG>CTG p.P9L NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 9 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 AATGTAACTCCGAACTCGTAC 0.532 41 209 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56563645 56563645 + Silent SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:56563645G>C uc001skb.2 - 23 2476 c.2370C>G c.(2368-2370)ACC>ACG p.T790T SMARCC2_uc001skd.2_Silent_p.T821T|SMARCC2_uc001ska.2_Silent_p.T821T|SMARCC2_uc001skc.2_Silent_p.T820T|SMARCC2_uc010sqf.1_Silent_p.T710T NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 790 Glu-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GAGCCTCGCTGGTTTTCTCTT 0.498 47 130 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81111152 81111152 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:81111152G>A uc001szg.2 + 1 445 c.310G>A c.(310-312)GAA>AAA p.E104K NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 104 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CCAGGCTTTCGAAACCCTCAA 0.597 8 107 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81688753 81688753 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:81688753G>A uc001szo.1 - 24 2947 c.2786C>T c.(2785-2787)GCC>GTC p.A929V PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 855 ovary(3)|lung(2)|pancreas(1) 6 AGACATGATGGCACCACTCTT 0.438 15 26 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99145241 99145241 + Silent SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:99145241T>A uc001tge.1 - 25 3981 c.3564A>T c.(3562-3564)CTA>CTT p.L1188L ANKS1B_uc001tgf.1_Silent_p.L704L|ANKS1B_uc001tgk.2_Silent_p.L485L|ANKS1B_uc010svd.1_Silent_p.L194L|ANKS1B_uc001tgd.1_Silent_p.L354L|ANKS1B_uc009ztq.2_Silent_p.L90L|ANKS1B_uc010sve.1_Silent_p.L218L|ANKS1B_uc001tgh.3_Silent_p.L194L|ANKS1B_uc001tgi.2_Silent_p.L438L|ANKS1B_uc009ztr.2_Silent_p.L378L|ANKS1B_uc001tgj.2_Silent_p.L354L|ANKS1B_uc009ztp.2_Silent_p.L219L|ANKS1B_uc010svf.1_Silent_p.L218L|ANKS1B_uc001tgg.3_Silent_p.L286L|ANKS1B_uc010svg.1_Silent_p.L323L|ANKS1B_uc009zts.1_Silent_p.L414L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 1188 PID. 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) CTTGTAGTGCTAGCTGGTAAG 0.483 61 179 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104077060 104077060 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:104077060C>A uc001tjw.2 + 26 3069 c.2883C>A c.(2881-2883)ACC>ACA p.T961T NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 961 Extracellular (Potential).|EGF-like 10. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TGGAACAAACCGGGAAATGTC 0.333 31 108 --- --- --- --- PASS WSCD2 9671 broad.mit.edu 37 12 108642091 108642091 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:108642091G>C uc001tms.2 + 9 2413 c.1669G>C c.(1669-1671)GGT>CGT p.G557R WSCD2_uc001tmt.2_Missense_Mutation_p.G557R|WSCD2_uc001tmu.2_Missense_Mutation_p.G325R NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 557 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GAACCTAACGGGTGTCCCCGA 0.587 20 51 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126128791 126128791 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:126128791T>C uc001uhe.1 + 6 1600 c.1592T>C c.(1591-1593)ATC>ACC p.I531T TMEM132B_uc001uhf.1_Missense_Mutation_p.I43T NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 531 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGAGCCAGATCAAGGGCTGG 0.567 20 60 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130840130 130840130 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:130840130G>A uc001uik.2 + 12 1412 c.1322G>A c.(1321-1323)TGG>TAG p.W441* PIWIL1_uc001uij.1_Nonsense_Mutation_p.W441* NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 441 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CTTCGAGACTGGGGTTTGAGC 0.378 34 385 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133393317 133393317 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr12:133393317G>A uc001ukz.1 - 3 774 c.215C>T c.(214-216)ACG>ATG p.T72M GOLGA3_uc001ula.1_Missense_Mutation_p.T72M|GOLGA3_uc001ulb.2_Missense_Mutation_p.T72M NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 72 Pro-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GAAGGGTGGCGTTGGCCCGTT 0.622 36 73 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101753188 101753188 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr13:101753188G>A uc001vox.1 - 27 3298 c.3109C>T c.(3109-3111)CAG>TAG p.Q1037* NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1037 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCAAAAAGCTGAACTCCAAAG 0.308 4 63 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21868389 21868389 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr14:21868389C>T uc001was.1 - 24 3905 c.3811G>A c.(3811-3813)GAT>AAT p.D1271N CHD8_uc001war.1_Missense_Mutation_p.D1167N|SNORD8_uc001wau.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1550 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CGGATCCAATCTGCCTTATGG 0.403 59 121 --- --- --- --- PASS CTAGE5 4253 broad.mit.edu 37 14 39772705 39772705 + Nonsense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr14:39772705A>T uc001wvg.3 + 11 1276 c.940A>T c.(940-942)AAG>TAG p.K314* CTAGE5_uc010tqe.1_Nonsense_Mutation_p.K276*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.K302*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.K234*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.K285*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.K259*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.K285*|CTAGE5_uc001wve.1_Nonsense_Mutation_p.K290*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.K314*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.K239*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.K319*|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.K285* NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 314 enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) AGGAGCTTTGAAGAAACTGAT 0.328 53 87 --- --- --- --- PASS EXD2 55218 broad.mit.edu 37 14 69704332 69704332 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr14:69704332A>T uc001xkt.2 + 10 1617 c.958A>T c.(958-960)ATC>TTC p.I320F EXD2_uc001xku.2_Missense_Mutation_p.I190F|EXD2_uc001xkv.2_Missense_Mutation_p.I445F|EXD2_uc001xkw.2_Missense_Mutation_p.I320F|EXD2_uc010aqt.2_Missense_Mutation_p.I445F|EXD2_uc010tte.1_Missense_Mutation_p.I445F|EXD2_uc001xky.2_Missense_Mutation_p.I320F NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 320 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 GCACTTCCCCATCGAGATGAA 0.532 24 36 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106320570 106320570 + RNA SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr14:106320570C>T uc010tyt.1 - 3601 c.56404G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 TGGGCCACCACGCAGGTGTAG 0.642 34 39 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34064318 34064318 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:34064318T>C uc001zhi.2 + 63 9084 c.9014T>C c.(9013-9015)TTT>TCT p.F3005S RYR3_uc010bar.2_Missense_Mutation_p.F3005S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3005 Helical; Name=M'; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACGTCCATCTTTGAGCACGTC 0.478 8 44 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41853468 41853468 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:41853468T>C uc001zof.1 + 2 492 c.268T>C c.(268-270)TAC>CAC p.Y90H TYRO3_uc001zoe.2_Missense_Mutation_p.Y90H NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 90 Extracellular (Potential).|Ig-like C2-type 1. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGACCAGTTGTACATCCCAGT 0.622 10 77 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43822398 43822398 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:43822398C>T uc001zrt.2 + 6 8855 c.8388C>T c.(8386-8388)TTC>TTT p.F2796F NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2796 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ATGAGTCCTTCCCTGCCTGCA 0.552 12 149 --- --- --- --- PASS GALK2 2585 broad.mit.edu 37 15 49493405 49493405 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:49493405C>A uc001zxj.1 + 2 198 c.100C>A c.(100-102)CCC>ACC p.P34T GALK2_uc001zxi.1_Missense_Mutation_p.P23T|GALK2_uc010ufb.1_Missense_Mutation_p.P10T|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.P10T NM_002044 NP_002035 Q01415 GALK2_HUMAN galactokinase 2 isoform 1 34 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1) 1 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) TGGATCTATTCCCAAGTTTTA 0.303 24 75 --- --- --- --- PASS ONECUT1 3175 broad.mit.edu 37 15 53081523 53081523 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:53081523G>A uc002aci.1 - 1 687 c.559C>T c.(559-561)CTG>TTG p.L187L NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 187 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) ATGCTGCCCAGACCGGAGCTG 0.662 25 71 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 54007474 54007474 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:54007474A>T uc002acj.2 - 5 472 c.430T>A c.(430-432)TTG>ATG p.L144M WDR72_uc010bfi.1_Missense_Mutation_p.L144M NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 144 lung(1)|skin(1) 2 all cancers(107;0.0511) ACAACAGCCAAAGTTTTGGCA 0.398 18 104 --- --- --- --- PASS NEDD4 4734 broad.mit.edu 37 15 56144621 56144621 + Splice_Site SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:56144621C>T uc002adj.2 - 9 2703 c.2403_splice c.e9+1 p.Q801_splice NEDD4_uc002adl.2_Splice_Site_p.Q382_splice|NEDD4_uc002adi.2_Splice_Site_p.Q729_splice|NEDD4_uc010ugj.1_Splice_Site_p.Q785_splice|NEDD4_uc010bfm.2_Splice_Site_p.Q784_splice|NEDD4_uc002adk.2_Splice_Site NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTACAGGATACCTGTACAGTG 0.373 40 128 --- --- --- --- PASS LDHAL6B 92483 broad.mit.edu 37 15 59499577 59499577 + Silent SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:59499577T>A uc002agb.2 + 1 536 c.438T>A c.(436-438)GGT>GGA p.G146G MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 146 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) TCACAGCAGGTGCACGCCAAG 0.433 93 223 --- --- --- --- PASS TPM1 7168 broad.mit.edu 37 15 63353941 63353941 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:63353941A>G uc002alg.2 + 6 784 c.593A>G c.(592-594)AAA>AGA p.K198R TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Missense_Mutation_p.K198R|TPM1_uc002alj.2_Missense_Mutation_p.K198R|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Missense_Mutation_p.K240R|TPM1_uc010uie.1_Missense_Mutation_p.K198R|TPM1_uc002alp.2_Missense_Mutation_p.K198R|TPM1_uc010uif.1_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Missense_Mutation_p.K162R|TPM1_uc010uig.1_Missense_Mutation_p.K162R|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron NM_001018005 NP_001018005 P09493 TPM1_HUMAN tropomyosin 1 alpha chain isoform 1 198 By similarity. cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle 0 GAAGAATTGAAAACTGTGACG 0.488 8 99 --- --- --- --- PASS TLE3 7090 broad.mit.edu 37 15 70342518 70342518 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:70342518C>G uc002asm.2 - 20 3356 c.2237G>C c.(2236-2238)AGT>ACT p.S746T TLE3_uc002ask.2_Missense_Mutation_p.S673T|TLE3_uc002asl.2_Missense_Mutation_p.S746T|TLE3_uc010ukd.1_Missense_Mutation_p.S736T|TLE3_uc010bik.1_Missense_Mutation_p.S327T|TLE3_uc010bil.1_Missense_Mutation_p.S743T|TLE3_uc002asn.2_Missense_Mutation_p.S734T|TLE3_uc002asp.2_Missense_Mutation_p.S738T|TLE3_uc002aso.2_Missense_Mutation_p.S741T NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 746 WD 7. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 AATGTCACAACTCAAGACAGA 0.473 5 263 --- --- --- --- PASS PKM2 5315 broad.mit.edu 37 15 72509778 72509778 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:72509778C>T uc002atx.1 - 3 459 c.218G>A c.(217-219)CGT>CAT p.R73H PKM2_uc010bit.1_Missense_Mutation_p.R78H|PKM2_uc010uki.1_Missense_Mutation_p.R147H|PKM2_uc002atv.1_Missense_Mutation_p.R108H|PKM2_uc002atw.1_Missense_Mutation_p.R73H|PKM2_uc002aty.1_Missense_Mutation_p.R73H|PKM2_uc010ukj.1_Intron|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Missense_Mutation_p.R94H|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 73 Substrate (By similarity). glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) GAAGTTCAGACGAGCCACATT 0.473 20 56 --- --- --- --- PASS CHRNB4 1143 broad.mit.edu 37 15 78922133 78922133 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:78922133G>A uc002bed.1 - 5 626 c.514C>T c.(514-516)CGC>TGC p.R172C CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 172 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GTCCAGGAGCGGAACTTGAGG 0.572 31 89 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86838602 86838602 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:86838602G>T uc002blz.1 + 16 2279 c.2199G>T c.(2197-2199)ATG>ATT p.M733I AGBL1_uc002bma.1_Missense_Mutation_p.M464I|AGBL1_uc002bmb.1_Missense_Mutation_p.M427I NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 733 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TCACGGCCATGCCTGAGTCCA 0.493 51 128 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88679149 88679149 + Missense_Mutation SNP A C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:88679149A>C uc002bme.1 - 8 1050 c.888T>G c.(886-888)AGT>AGG p.S296R NTRK3_uc002bmh.2_Missense_Mutation_p.S296R|NTRK3_uc002bmf.1_Missense_Mutation_p.S296R|NTRK3_uc010upl.1_Missense_Mutation_p.S198R|NTRK3_uc010bnh.1_Missense_Mutation_p.S296R|NTRK3_uc002bmg.2_Missense_Mutation_p.S296R NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 296 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TGAGGGCAACACTGGCATTGC 0.542 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 30 66 --- --- --- --- PASS C15orf42 90381 broad.mit.edu 37 15 90145164 90145164 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr15:90145164G>A uc002boe.2 + 12 2524 c.2524G>A c.(2524-2526)GAT>AAT p.D842N NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 842 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CCCTGAATCTGATGAACTGCA 0.408 52 96 --- --- --- --- PASS SOLH 6650 broad.mit.edu 37 16 603040 603040 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:603040A>T uc002chi.2 + 13 3445 c.3082A>T c.(3082-3084)AGG>TGG p.R1028W SOLH_uc002chj.2_Missense_Mutation_p.R88W NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 1028 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) ACCCCTGCACAGGTGcgcccc 0.333 4 15 --- --- --- --- PASS HS3ST4 9951 broad.mit.edu 37 16 26147055 26147055 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:26147055T>C uc002dof.2 + 2 1249 c.857T>C c.(856-858)GTG>GCG p.V286A NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 286 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) CTGATTGTGGTGGTGAGAAAC 0.512 34 120 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48172191 48172191 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:48172191G>C uc002efc.1 - 6 1273 c.927C>G c.(925-927)ATC>ATG p.I309M ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.I309M|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 309 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TGATCAGCCTGATGCAGGTCA 0.418 68 139 --- --- --- --- PASS CTCF 10664 broad.mit.edu 37 16 67662443 67662443 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:67662443A>G uc002etl.2 + 9 1979 c.1689A>G c.(1687-1689)ACA>ACG p.T563T CTCF_uc010cek.2_Silent_p.T235T|CTCF_uc002etm.1_Silent_p.T52T NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 563 C2H2-type 11; atypical. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GTGGGAAAACATTTACACGTC 0.463 79 186 --- --- --- --- PASS DUS2L 54920 broad.mit.edu 37 16 68112719 68112719 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:68112719G>C uc002evi.2 + 17 1461 c.1312G>C c.(1312-1314)GAG>CAG p.E438Q DUS2L_uc002evj.2_Missense_Mutation_p.E438Q|DUS2L_uc010vkk.1_Missense_Mutation_p.E403Q|DUS2L_uc010cez.2_Missense_Mutation_p.E351Q NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 438 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) GGGCCTCCCTGAGGGTCGGCT 0.632 16 47 --- --- --- --- PASS FTSJD1 55783 broad.mit.edu 37 16 71319141 71319141 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:71319141G>C uc010cga.2 - 3 1089 c.683C>G c.(682-684)ACT>AGT p.T228S FTSJD1_uc002ezy.3_Missense_Mutation_p.T228S|FTSJD1_uc002ezz.3_Missense_Mutation_p.T228S NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 228 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 CAAGTGAACAGTAGCCATGCT 0.423 10 133 --- --- --- --- PASS KIAA0182 23199 broad.mit.edu 37 16 85694958 85694958 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr16:85694958G>A uc002fix.2 + 9 1921 c.1847G>A c.(1846-1848)CGC>CAC p.R616H KIAA0182_uc002fiw.2_Missense_Mutation_p.R512H|KIAA0182_uc002fiy.2_Missense_Mutation_p.R543H|KIAA0182_uc002fiz.2_5'Flank|KIAA0182_uc010cho.2_5'Flank NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 616 Pro-rich. protein binding large_intestine(3)|ovary(1)|skin(1) 5 GAGCCCAGCCGCCAGGCAGCC 0.667 13 38 --- --- --- --- PASS GEMIN4 50628 broad.mit.edu 37 17 649357 649357 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:649357C>T uc002frs.1 - 2 2045 c.1926G>A c.(1924-1926)GTG>GTA p.V642V NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 642 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GAAGAGCAGCCACTGGAATCC 0.483 4 117 --- --- --- --- PASS C17orf85 55421 broad.mit.edu 37 17 3717728 3717728 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:3717728A>G uc010ckl.1 - 12 1538 c.1515T>C c.(1513-1515)TTT>TTC p.F505F C17orf85_uc002fwr.2_Silent_p.F215F|C17orf85_uc002fwq.2_Silent_p.F225F NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 505 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GGTTACTACTAAAAGCCTTTT 0.498 45 66 --- --- --- --- PASS POLR2A 5430 broad.mit.edu 37 17 7411633 7411633 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:7411633A>G uc002ghf.3 + 20 3538 c.3304A>G c.(3304-3306)ATG>GTG p.M1102V NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1102 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) TGCCACCCAGATGACCTTGAA 0.542 25 39 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578458 7578458 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:7578458G>C uc002gim.2 - 5 666 c.472C>G c.(472-474)CGC>GGC p.R158G TP53_uc002gig.1_Missense_Mutation_p.R158G|TP53_uc002gih.2_Missense_Mutation_p.R158G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26G|TP53_uc010cng.1_Missense_Mutation_p.R26G|TP53_uc002gii.1_Missense_Mutation_p.R26G|TP53_uc010cnh.1_Missense_Mutation_p.R158G|TP53_uc010cni.1_Missense_Mutation_p.R158G|TP53_uc002gij.2_Missense_Mutation_p.R158G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65G|TP53_uc002gio.2_Missense_Mutation_p.R26G|TP53_uc010vug.1_Missense_Mutation_p.R119G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(53)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.V157_R158delVR(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.R158F(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCATGGCGCGGACGCGGGTG 0.622 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 40 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8046002 8046002 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:8046002G>C uc002gkd.2 - 20 3462 c.3224C>G c.(3223-3225)TCC>TGC p.S1075C PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1075 Ser-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CCCTTCATGGGAGCCTGAACC 0.667 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 31 45 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8051538 8051538 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:8051538C>G uc002gkd.2 - 9 1326 c.1088G>C c.(1087-1089)CGG>CCG p.R363P PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.R347P NM_002616 NP_002607 O15534 PER1_HUMAN period 1 363 PAS 2. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GGGTGTGTGCCGCGTAGTGAA 0.597 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 33 66 --- --- --- --- PASS SMCR8 140775 broad.mit.edu 37 17 18219655 18219655 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:18219655G>C uc002gsy.3 + 1 1062 c.552G>C c.(550-552)AAG>AAC p.K184N NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 184 central_nervous_system(1) 1 AGTGCTTGAAGACTGGCAACA 0.468 6 84 --- --- --- --- PASS MYCBPAP 84073 broad.mit.edu 37 17 48602368 48602368 + Missense_Mutation SNP G A A rs149888826 TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:48602368G>A uc010wmr.1 + 13 2057 c.1895G>A c.(1894-1896)CGG>CAG p.R632Q MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 595 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GACTTGTTCCGGCACAGAAAT 0.572 4 95 --- --- --- --- PASS PRKCA 5578 broad.mit.edu 37 17 64637581 64637581 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr17:64637581G>A uc002jfp.1 + 4 441 c.397G>A c.(397-399)GAC>AAC p.D133N PRKCA_uc002jfo.1_Missense_Mutation_p.D4N NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 133 Phorbol-ester/DAG-type 2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GATGAAATGTGACAGTAAGTA 0.463 6 120 --- --- --- --- PASS CTAGE1 64693 broad.mit.edu 37 18 19997382 19997382 + Missense_Mutation SNP T G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:19997382T>G uc002ktv.1 - 1 497 c.393A>C c.(391-393)GAA>GAC p.E131D NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 131 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATTCATTTTGTTCAGAATGTT 0.373 11 323 --- --- --- --- PASS MEP1B 4225 broad.mit.edu 37 18 29800198 29800198 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:29800198A>G uc002kxj.3 + 15 2143 c.2096A>G c.(2095-2097)CAT>CGT p.H699R NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 699 Cytoplasmic (Potential). digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 TTTTAGCAGCATGCTTTTTGA 0.303 9 19 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54398814 54398814 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:54398814G>C uc002lgk.1 + 14 2186 c.1975G>C c.(1975-1977)GAG>CAG p.E659Q WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.E659Q NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 659 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) CTTGGCTTCTGAGGCATCTGA 0.398 14 181 --- --- --- --- PASS TMX3 54495 broad.mit.edu 37 18 66367644 66367644 + Silent SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:66367644A>G uc002lkf.2 - 6 525 c.390T>C c.(388-390)TCT>TCC p.S130S TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.3_Silent_p.S130S NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 130 Lumenal (Potential). cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 TAACTTACCCAGATACTCTGT 0.244 20 211 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70417473 70417473 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:70417473C>A uc002lkw.2 - 9 1649 c.1365G>T c.(1363-1365)TTG>TTT p.L455F NETO1_uc002lkx.1_Missense_Mutation_p.L454F|NETO1_uc002lky.1_Missense_Mutation_p.L455F NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 455 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GCATCTCTGTCAAGATAGAAG 0.488 24 87 --- --- --- --- PASS FBXO15 201456 broad.mit.edu 37 18 71797764 71797764 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:71797764C>A uc002lle.2 - 4 570 c.234G>T c.(232-234)TGG>TGT p.W78C FBXO15_uc002llf.2_Missense_Mutation_p.W154C NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 78 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) ATTCTTTCTTCCAATAACCAG 0.378 5 126 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72345581 72345581 + Missense_Mutation SNP T G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:72345581T>G uc002llw.2 + 1 2663 c.2606T>G c.(2605-2607)ATT>AGT p.I869S ZNF407_uc010xfc.1_Missense_Mutation_p.I869S|ZNF407_uc010dqu.1_Missense_Mutation_p.I869S|ZNF407_uc002llu.2_Missense_Mutation_p.I868S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 869 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACTGTTCACATTAGACGAAAA 0.413 39 121 --- --- --- --- PASS ZBTB7A 51341 broad.mit.edu 37 19 4054023 4054023 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:4054023G>T uc002lzh.2 - 2 1283 c.1208C>A c.(1207-1209)ACC>AAC p.T403N ZBTB7A_uc002lzi.2_Missense_Mutation_p.T403N NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 403 C2H2-type 1. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCGTGTGGGTGCGGATGTG 0.657 7 35 --- --- --- --- PASS HOOK2 29911 broad.mit.edu 37 19 12881986 12881986 + Nonsense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:12881986C>A uc002muy.2 - 9 919 c.748G>T c.(748-750)GAG>TAG p.E250* HOOK2_uc002muz.2_Nonsense_Mutation_p.E250* NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 250 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 AAGTTCTCCTCCTGCAACTGC 0.672 9 11 --- --- --- --- PASS TMEM161A 54929 broad.mit.edu 37 19 19231853 19231853 + Missense_Mutation SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:19231853T>A uc002nlg.2 - 10 1067 c.1037A>T c.(1036-1038)GAG>GTG p.E346V TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.E321V|TMEM161A_uc002nli.2_Missense_Mutation_p.E243V|TMEM161A_uc002nlj.2_Missense_Mutation_p.E221V NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 346 Extracellular (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) TCGCAGCTGCTCCACCCGGGC 0.692 14 23 --- --- --- --- PASS ZNF569 148266 broad.mit.edu 37 19 37903707 37903707 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:37903707C>T uc002ogi.2 - 6 2411 c.1853G>A c.(1852-1854)AGC>AAC p.S618N ZNF569_uc002ogh.2_Missense_Mutation_p.S459N|ZNF569_uc002ogj.2_Missense_Mutation_p.S642N NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 618 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGGATGAGCTTTGGGAGAA 0.408 91 227 --- --- --- --- PASS ZNF540 163255 broad.mit.edu 37 19 38102891 38102891 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:38102891A>G uc002ogq.2 + 5 1042 c.710A>G c.(709-711)CAT>CGT p.H237R ZNF540_uc002ogu.2_Missense_Mutation_p.H237R|ZNF540_uc010efq.2_Missense_Mutation_p.H205R NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 237 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAGATTTCATACTGGTGAG 0.368 6 122 --- --- --- --- PASS CEACAM21 90273 broad.mit.edu 37 19 42083652 42083652 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:42083652G>A uc002ore.3 + 2 261 c.165G>A c.(163-165)GTG>GTA p.V55V CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Silent_p.V55V NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 55 Extracellular (Potential). integral to membrane ovary(1) 1 ATCTCTCTGTGGTTTATCTGC 0.478 30 70 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42480657 42480657 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:42480657C>T uc002osg.2 - 15 2159 c.2005G>A c.(2005-2007)GAC>AAC p.D669N ATP1A3_uc010xwf.1_Missense_Mutation_p.D680N|ATP1A3_uc010xwg.1_Missense_Mutation_p.D639N|ATP1A3_uc010xwh.1_Missense_Mutation_p.D682N|ATP1A3_uc002osh.2_Missense_Mutation_p.D669N NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 669 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 AGGATCTCGTCGATTTGCTCG 0.607 37 93 --- --- --- --- PASS CCDC61 729440 broad.mit.edu 37 19 46498682 46498682 + Splice_Site SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:46498682G>A uc002pdw.2 + 2 81 c.81_splice c.e2-1 p.R27_splice NM_001080402 NP_001073871 coiled-coil domain containing 61 ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) TGACCAATCAGAAGCGAGAAC 0.602 3 12 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47193887 47193887 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:47193887G>T uc002pfh.2 - 14 2121 c.1779C>A c.(1777-1779)AGC>AGA p.S593R PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'UTR|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.S113R|PRKD2_uc002pff.2_Missense_Mutation_p.S113R|PRKD2_uc002pfg.2_Missense_Mutation_p.S436R|PRKD2_uc002pfi.2_Missense_Mutation_p.S593R|PRKD2_uc002pfj.2_Missense_Mutation_p.S593R|PRKD2_uc010xye.1_Missense_Mutation_p.S593R|PRKD2_uc002pfk.2_Missense_Mutation_p.S436R NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 593 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TCCGGAGCTGGCTCTCCTGCT 0.502 30 88 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49652839 49652839 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:49652839G>T uc002pmr.2 + 28 3722 c.3390G>T c.(3388-3390)TGG>TGT p.W1130C PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.W989C|PPFIA3_uc002pmt.2_Missense_Mutation_p.W269C|PPFIA3_uc002pmu.1_Missense_Mutation_p.W179C NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 1130 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CCCCATCCTGGCGGAAGATGT 0.627 3 38 --- --- --- --- PASS SIGLEC7 27036 broad.mit.edu 37 19 51647820 51647820 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:51647820C>A uc002pvv.1 + 2 660 c.591C>A c.(589-591)ACC>ACA p.T197T SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 197 Ig-like C2-type 1.|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) CCTCCACCACCCGCTCCTCAG 0.662 22 132 --- --- --- --- PASS HAS1 3036 broad.mit.edu 37 19 52222524 52222524 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:52222524C>G uc002pxo.1 - 2 672 c.637G>C c.(637-639)GGC>CGC p.G213R HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.G178R|HAS1_uc002pxn.1_Missense_Mutation_p.G220R|HAS1_uc002pxp.1_Missense_Mutation_p.G212R NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 213 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CGCTTGCCGCCCCAGCGCTGC 0.652 7 48 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328242 57328242 + Missense_Mutation SNP T A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:57328242T>A uc002qnu.2 - 7 1919 c.1568A>T c.(1567-1569)CAT>CTT p.H523L ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H494L|PEG3_uc002qnv.2_Missense_Mutation_p.H523L|PEG3_uc002qnw.2_Missense_Mutation_p.H399L|PEG3_uc002qnx.2_Missense_Mutation_p.H397L|PEG3_uc010etr.2_Missense_Mutation_p.H523L NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 523 C2H2-type 2. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AATCTTCCGATGTTCAGCCAA 0.453 25 294 --- --- --- --- PASS ZNF586 54807 broad.mit.edu 37 19 58290764 58290764 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr19:58290764C>T uc002qqd.2 + 3 995 c.809C>T c.(808-810)TCA>TTA p.S270L ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.S227L|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 270 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTGGAAAATCATTTCGCCGA 0.428 24 81 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3674246 3674246 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:3674246T>C uc002wja.2 - 13 3356 c.3356A>G c.(3355-3357)TAC>TGC p.Y1119C SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.Y1119C NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1119 Ig-like C2-type 11.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GTACCATGTGTAGGTGAGCTG 0.662 10 27 --- --- --- --- PASS PROKR2 128674 broad.mit.edu 37 20 5283025 5283025 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:5283025C>T uc010zqw.1 - 2 816 c.816G>A c.(814-816)AAG>AAA p.K272K PROKR2_uc010zqx.1_Silent_p.K272K|PROKR2_uc010zqy.1_Silent_p.K272K NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 272 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 CCAGGACCGTCTTCCTGCGGC 0.597 HNSCC(71;0.22) 15 38 --- --- --- --- PASS PLK1S1 55857 broad.mit.edu 37 20 21143633 21143633 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:21143633G>A uc002wsb.2 + 6 1318 c.1185G>A c.(1183-1185)CAG>CAA p.Q395Q PLK1S1_uc010zsh.1_Silent_p.Q292Q|PLK1S1_uc010zsi.1_Silent_p.Q262Q|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 395 spindle organization centrosome protein kinase binding 0 CAGAACCACAGCCAAATCCAG 0.433 19 57 --- --- --- --- PASS NKX2-2 4821 broad.mit.edu 37 20 21494122 21494122 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:21494122C>T uc002wsi.2 - 1 543 c.186G>A c.(184-186)AAG>AAA p.K62K NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 62 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 AGAAGGGGTTCTTCAGGGGCA 0.677 11 28 --- --- --- --- PASS REM1 28954 broad.mit.edu 37 20 30070090 30070090 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:30070090G>A uc002wwa.2 + 4 708 c.424G>A c.(424-426)GAT>AAT p.D142N NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 142 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCTCCTGCAGGATAAAAGCTG 0.582 32 72 --- --- --- --- PASS C20orf185 359710 broad.mit.edu 37 20 31656643 31656643 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:31656643T>C uc002wym.1 + 10 1013 c.1013T>C c.(1012-1014)CTA>CCA p.L338P NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 338 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 CAGCAACTCCTACTGTTCCTG 0.522 4 96 --- --- --- --- PASS SAMHD1 25939 broad.mit.edu 37 20 35526237 35526237 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:35526237G>A uc002xgh.1 - 15 1864 c.1734C>T c.(1732-1734)TTC>TTT p.F578F SAMHD1_uc010gft.1_RNA NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 578 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) GCGGCTTGGTGAAATTTCTGT 0.388 5 111 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37169683 37169683 + Splice_Site SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:37169683G>C uc002xiw.2 + 18 2820 c.2563_splice c.e18-1 p.D855_splice RALGAPB_uc002xix.2_Splice_Site_p.D851_splice|RALGAPB_uc002xiy.1_Splice_Site_p.D855_splice|RALGAPB_uc002xiz.2_Splice_Site_p.D633_splice|RALGAPB_uc002xja.1_Splice_Site_p.D582_splice NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 CCTGCTTTTAGGACTGCCTTA 0.318 44 133 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40045305 40045305 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:40045305G>A uc002xka.1 - 33 6587 c.6409C>T c.(6409-6411)CGA>TGA p.R2137* CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2137 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) AGGCTGGTTCGAGAACCAGCA 0.587 36 81 --- --- --- --- PASS C20orf106 200232 broad.mit.edu 37 20 55100911 55100911 + Nonsense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr20:55100911A>T uc002xxx.2 + 2 381 c.301A>T c.(301-303)AAA>TAA p.K101* GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron NM_001012971 NP_001012989 Q5JX71 CT106_HUMAN hypothetical protein LOC200232 precursor 101 Cytoplasmic (Potential). integral to membrane 0 Colorectal(105;0.202) TCCATTAAAGAAAAAAAGAAA 0.428 74 226 --- --- --- --- PASS TTC3 7267 broad.mit.edu 37 21 38573770 38573770 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr21:38573770C>T uc002yvz.2 + 46 6078 c.5973C>T c.(5971-5973)AGC>AGT p.S1991S TTC3_uc002ywa.2_Silent_p.S1991S|TTC3_uc002ywb.2_Silent_p.S1991S|TTC3_uc010gnf.2_Silent_p.S1756S|TTC3_uc002ywc.2_Silent_p.S1681S NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1991 RING-type. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AAGGGCAGAGCGCTTGCCCGG 0.537 4 128 --- --- --- --- PASS GGT5 2687 broad.mit.edu 37 22 24615949 24615949 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr22:24615949C>A uc002zzo.3 - 12 2167 c.1750G>T c.(1750-1752)GCA>TCA p.A584S GGT5_uc002zzp.3_Missense_Mutation_p.A585S|GGT5_uc002zzr.3_Missense_Mutation_p.A552S|GGT5_uc002zzq.3_3'UTR|GGT5_uc011ajm.1_Missense_Mutation_p.A508S NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 584 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 TAGTAGCCTGCGGCCTCCCCA 0.637 19 52 --- --- --- --- PASS ENTHD1 150350 broad.mit.edu 37 22 40139799 40139799 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr22:40139799A>G uc003ayg.2 - 7 1960 c.1709T>C c.(1708-1710)ATC>ACC p.I570T NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 570 Potential. ovary(2)|skin(1) 3 Melanoma(58;0.0749) AAGTTCTTGGATCACTGTGCT 0.443 37 127 --- --- --- --- PASS GYG2 8908 broad.mit.edu 37 X 2773121 2773121 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:2773121G>T uc004cqs.1 + 6 787 c.505G>T c.(505-507)GTG>TTG p.V169L GYG2_uc004cqt.1_Missense_Mutation_p.V138L|GYG2_uc004cqu.1_Missense_Mutation_p.V138L|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.V129L|GYG2_uc004cqx.1_Missense_Mutation_p.V138L|GYG2_uc010ndc.1_5'UTR NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 169 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 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) CAATAGCGGGGTGTTTGTCTT 0.572 58 127 --- --- --- --- PASS CA5B 11238 broad.mit.edu 37 X 15793398 15793398 + Missense_Mutation SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:15793398A>T uc004cxe.2 + 6 702 c.585A>T c.(583-585)AAA>AAT p.K195N NM_007220 NP_009151 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial precursor 195 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding 0 Hepatocellular(33;0.183) AGCTACAGAAATTAGTGGATA 0.323 15 162 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17750110 17750110 + Silent SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:17750110C>A uc004cxx.2 + 8 4757 c.4419C>A c.(4417-4419)CCC>CCA p.P1473P NHS_uc011mix.1_Silent_p.P1494P|NHS_uc004cxy.2_Silent_p.P1317P|NHS_uc004cxz.2_Silent_p.P1296P|NHS_uc004cya.2_Silent_p.P1196P NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1473 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) TGACAACCCCCAACAGCCAGA 0.512 76 238 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19028829 19028829 + Silent SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:19028829G>T uc004cyx.2 - 17 1331 c.1167C>A c.(1165-1167)TCC>TCA p.S389S GPR64_uc004cyy.2_Silent_p.S386S|GPR64_uc004cyz.2_Silent_p.S375S|GPR64_uc004czb.2_Silent_p.S389S|GPR64_uc004czc.2_Silent_p.S373S|GPR64_uc004czd.2_Silent_p.S365S|GPR64_uc004cze.2_Silent_p.S359S|GPR64_uc004czf.2_Silent_p.S351S|GPR64_uc004cza.2_Silent_p.S367S|GPR64_uc004cyw.2_Silent_p.S373S|GPR64_uc010nfj.2_Silent_p.S359S NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 389 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) GGCTGCCCAAGGACAGAGCCT 0.502 91 256 --- --- --- --- PASS MAGEB10 139422 broad.mit.edu 37 X 27839977 27839977 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:27839977A>G uc004dbw.2 + 3 781 c.554A>G c.(553-555)GAT>GGT p.D185G NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 185 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 AACAAACTAGATCTAGGCTGT 0.478 11 161 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39934138 39934138 + Missense_Mutation SNP C G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:39934138C>G uc004den.3 - 4 753 c.461G>C c.(460-462)GGA>GCA p.G154A BCOR_uc004dep.3_Missense_Mutation_p.G154A|BCOR_uc004deo.3_Missense_Mutation_p.G154A|BCOR_uc004dem.3_Missense_Mutation_p.G154A|BCOR_uc004deq.3_Missense_Mutation_p.G154A NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 154 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TTTTTGTATTCCAGGCGGTGT 0.512 25 82 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 41075775 41075775 + Silent SNP A T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:41075775A>T uc004dfb.2 + 35 6588 c.5955A>T c.(5953-5955)TCA>TCT p.S1985S USP9X_uc004dfc.2_Silent_p.S1985S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1985 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TTATGCCATCAGCCATTGAGA 0.368 85 166 --- --- --- --- PASS TBC1D25 4943 broad.mit.edu 37 X 48418240 48418240 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:48418240A>G uc004dka.1 + 6 1055 c.944A>G c.(943-945)CAC>CGC p.H315R TBC1D25_uc011mly.1_Missense_Mutation_p.H257R|TBC1D25_uc004dkb.1_Missense_Mutation_p.H61R|TBC1D25_uc011mlz.1_Missense_Mutation_p.H61R|TBC1D25_uc011mma.1_Missense_Mutation_p.H61R|TBC1D25_uc004dkc.1_Missense_Mutation_p.H61R|TBC1D25_uc011mmb.1_Missense_Mutation_p.H319R|TBC1D25_uc011mmc.1_Missense_Mutation_p.H61R|TBC1D25_uc011mmd.1_Missense_Mutation_p.H61R NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 315 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1) 1 CGGGCGCTGCACGACCTGCTC 0.617 16 51 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50094351 50094351 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:50094351T>C uc004dox.3 + 12 4370 c.4072T>C c.(4072-4074)TAT>CAT p.Y1358H CCNB3_uc004doy.2_Missense_Mutation_p.Y1358H|CCNB3_uc004doz.2_Missense_Mutation_p.Y254H|CCNB3_uc010njq.2_Missense_Mutation_p.Y250H|CCNB3_uc004dpa.2_Missense_Mutation_p.Y197H NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1358 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CAAGGCTGTGTATTACAAGTA 0.453 146 321 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 X 51149908 51149908 + Nonsense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:51149908C>T uc004dpj.2 + 1 142 c.40C>T c.(40-42)CAG>TAG p.Q14* NM_203407 NP_981952 hypothetical protein LOC340602 GCAGAAGCACCAGCAGGACGA 0.627 9 36 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67936270 67936270 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:67936270G>T uc004dxa.2 + 4 426 c.54G>T c.(52-54)AAG>AAT p.K18N STARD8_uc004dxb.2_Missense_Mutation_p.K98N|STARD8_uc004dxc.3_Missense_Mutation_p.K18N NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 18 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 TTCAAAGCAAGCAGGTGAGTC 0.478 18 61 --- --- --- --- PASS OTUD6A 139562 broad.mit.edu 37 X 69283241 69283241 + Nonstop_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:69283241G>T uc004dxu.1 + 1 901 c.867G>T c.(865-867)TAG>TAT p.*289Y NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 289 lung(1)|skin(1) 2 GTCTCCTGTAGGCCCCAAGGC 0.567 4 12 --- --- --- --- PASS NLGN3 54413 broad.mit.edu 37 X 70389799 70389799 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:70389799C>A uc004dzb.2 + 7 2643 c.2339C>A c.(2338-2340)CCG>CAG p.P780Q NLGN3_uc004dzc.2_Missense_Mutation_p.P663Q|NLGN3_uc011mps.1_Missense_Mutation_p.P760Q|NLGN3_uc004dze.2_Missense_Mutation_p.P598Q NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 800 Cytoplasmic (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) CGGCGCTCCCCGGATGACATC 0.632 9 13 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76938248 76938248 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:76938248C>T uc004ecp.3 - 9 2732 c.2500G>A c.(2500-2502)GCC>ACC p.A834T ATRX_uc004ecq.3_Missense_Mutation_p.A796T|ATRX_uc004eco.3_Missense_Mutation_p.A619T|ATRX_uc004ecr.2_Missense_Mutation_p.A766T|ATRX_uc010nlx.1_Missense_Mutation_p.A805T|ATRX_uc010nly.1_Missense_Mutation_p.A779T NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 834 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GTGGTTCTGGcagcaccaatt 0.219 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 24 566 --- --- --- --- PASS CSTF2 1478 broad.mit.edu 37 X 100087736 100087736 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:100087736C>A uc004egh.2 + 10 1103 c.1045C>A c.(1045-1047)CCA>ACA p.P349T CSTF2_uc010nnd.2_Missense_Mutation_p.P369T|CSTF2_uc004egi.2_Missense_Mutation_p.P332T NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 349 Gly/Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 TTACTTGGGACCACCTCATCA 0.493 11 52 --- --- --- --- PASS MUM1L1 139221 broad.mit.edu 37 X 105451326 105451326 + Missense_Mutation SNP A G G TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:105451326A>G uc004emf.1 + 4 2550 c.1901A>G c.(1900-1902)AAA>AGA p.K634R MUM1L1_uc004emg.1_Missense_Mutation_p.K634R NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 634 ovary(2)|pancreas(1)|skin(1) 4 GATAAAATTAAATTTATCCTA 0.338 5 20 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125299528 125299528 + Missense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:125299528G>A uc004euk.1 - 1 407 c.380C>T c.(379-381)TCA>TTA p.S127L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 127 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GATGTGGCCTGACTGCACGTC 0.642 48 139 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129189940 129189940 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:129189940G>T uc004evb.1 + 13 5079 c.4965G>T c.(4963-4965)GAG>GAT p.E1655D BCORL1_uc004evc.1_Missense_Mutation_p.E491D NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1655 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CCAAGGCCGAGTTCTACAGGC 0.597 63 198 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142718090 142718090 + Nonsense_Mutation SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:142718090G>A uc004fbx.2 - 2 1211 c.835C>T c.(835-837)CAG>TAG p.Q279* SLITRK4_uc004fby.2_Nonsense_Mutation_p.Q279* NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 279 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCCAGCTGAGATGGAGGC 0.438 82 181 --- --- --- --- PASS FMR1 2332 broad.mit.edu 37 X 147024736 147024736 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:147024736G>C uc010nst.2 + 14 1550 c.1361G>C c.(1360-1362)CGT>CCT p.R454P FMR1_uc004fcj.2_Missense_Mutation_p.R431P|FMR1_uc004fck.3_Missense_Mutation_p.R433P|FMR1_uc004fcl.3_Missense_Mutation_p.R294P|FMR1_uc011mxa.1_Missense_Mutation_p.R101P NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 454 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCACCAAATCGTACAGATAAG 0.448 Fragile_X_syndrome 73 252 --- --- --- --- PASS TMEM185A 84548 broad.mit.edu 37 X 148685678 148685678 + Missense_Mutation SNP T C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:148685678T>C uc011mxq.1 - 5 793 c.482A>G c.(481-483)GAC>GGC p.D161G HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.D102G|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.D78G NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 161 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GATGATCTTGTCCAGTCTTAA 0.254 5 143 --- --- --- --- PASS PRRG3 79057 broad.mit.edu 37 X 150869314 150869314 + Missense_Mutation SNP G C C TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:150869314G>C uc004few.1 + 4 895 c.505G>C c.(505-507)GTC>CTC p.V169L NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 169 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CAGGACCACAGTCCGGCTAGA 0.672 19 61 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152818658 152818658 + Silent SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:152818658C>T uc004fht.1 + 11 2115 c.1989C>T c.(1987-1989)AAC>AAT p.N663N ATP2B3_uc004fhs.1_Silent_p.N663N NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 663 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACTGGGACAACGAGAATGAGG 0.622 24 132 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152821585 152821585 + Missense_Mutation SNP C T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:152821585C>T uc004fht.1 + 12 2263 c.2137C>T c.(2137-2139)CGG>TGG p.R713W ATP2B3_uc004fhs.1_Missense_Mutation_p.R713W NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 713 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAACACGGCCCGGGCCATCGC 0.587 49 120 --- --- --- --- PASS PNCK 139728 broad.mit.edu 37 X 152937050 152937050 + Missense_Mutation SNP C A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:152937050C>A uc011myu.1 - 6 927 c.741G>T c.(739-741)CAG>CAT p.Q247H PNCK_uc011myt.1_Missense_Mutation_p.Q181H|PNCK_uc004fia.2_Missense_Mutation_p.Q176H|PNCK_uc004fhz.3_Missense_Mutation_p.Q62H|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.Q191H|PNCK_uc011myw.1_Missense_Mutation_p.Q191H NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 164 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTTCCCAGCCTGGATTTTGG 0.597 74 206 --- --- --- --- PASS PDZD4 57595 broad.mit.edu 37 X 153070266 153070266 + Missense_Mutation SNP G T T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:153070266G>T uc004fiz.1 - 8 1102 c.852C>A c.(850-852)GAC>GAA p.D284E PDZD4_uc004fiy.1_Missense_Mutation_p.D209E|PDZD4_uc004fix.2_Missense_Mutation_p.D188E|PDZD4_uc004fja.1_Missense_Mutation_p.D290E|PDZD4_uc011mze.1_Missense_Mutation_p.D175E NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 284 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGTGCTCTCGTCAGTCCGGC 0.667 10 85 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153585881 153585881 + Silent SNP G A A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chrX:153585881G>A uc004fkk.2 - 29 5115 c.4866C>T c.(4864-4866)TAC>TAT p.Y1622Y FLNA_uc011mzn.1_Translation_Start_Site|FLNA_uc010nuu.1_Silent_p.Y1622Y NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1622 Filamin 14. 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) CGTCACCACCGTACTTGATGA 0.617 19 38 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39851220 39851220 + Frame_Shift_Del DEL G - - TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr4:39851220delG uc003guv.3 - 27 3679 c.3139delC c.(3139-3141)CATfs p.H1047fs PDS5A_uc010ifo.2_Frame_Shift_Del_p.H1007fs NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 1047 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 ATAAAGGCATGGCTATTGTTT 0.378 48 28 --- --- --- --- COLEC12 81035 broad.mit.edu 37 18 334892 334904 + Frame_Shift_Del DEL GCTCCCCAACGGT - - TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:334892_334904delGCTCCCCAACGGT uc002kkm.2 - 6 1869_1881 c.1654_1666delACCGTTGGGGAGC c.(1654-1668)ACCGTTGGGGAGCCTfs p.T552fs NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 552_556 Collagen-like 3.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGCACCCCAGGCTCCCCAACGGTGCCCTGAAGT 0.737 3 5 --- --- --- --- ZNF516 9658 broad.mit.edu 37 18 74153304 74153308 + Frame_Shift_Del DEL GCTGG - - TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 999a6582-33cf-47ca-b268-9b2da102e99b e029f62d-7883-4ae8-a6dd-3c8a9cbe1f4f g.chr18:74153304_74153308delGCTGG uc010dqx.1 - 2 1938_1942 c.1703_1707delCCAGC c.(1702-1707)CCCAGCfs p.P568fs ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 568_569 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) AGCCAGGGCTGCTGGGCTGGGAGGC 0.741 20 10 --- --- --- ---