Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 5 53 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19478948 19478948 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:19478948C>T uc001bbi.2 - 47 6859 c.6855G>A c.(6853-6855)GTG>GTA p.V2285V UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Silent_p.V222V|UBR4_uc001bbm.1_Silent_p.V1497V NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2285 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGGGAAAGTCACCTGGCTAG 0.507 NA 8 153 0 0 0 0 C1orf38 9473 broad.mit.edu 37 1 28208651 28208651 + Silent SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:28208651C>G uc001bpc.3 + 4 844 c.816C>G c.(814-816)CGC>CGG p.R272R C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Intron NM_001105556 NP_001099026 Q5TEJ8 THMS2_HUMAN basement membrane-induced gene isoform 3 272 CABIT 2. cell adhesion|inflammatory response ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) CTGAGGGCCGCCCCATCTTCC 0.632 NA 14 35 0 0 0 0 COL9A2 1298 broad.mit.edu 37 1 40775985 40775985 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:40775985G>A uc001cfh.1 - 14 759 c.689C>T c.(688-690)CCC>CTC p.P230L COL9A2_uc001cfi.1_Missense_Mutation_p.P49L NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 230 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GATGCCCTGGGGACCCTGTTG 0.378 NA 6 71 0 0 0 0 PTGFR 5737 broad.mit.edu 37 1 78958948 78958948 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:78958948C>T uc001din.2 + 2 786 c.520C>T c.(520-522)CAT>TAT p.H174Y PTGFR_uc001dim.2_Missense_Mutation_p.H174Y NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 174 Helical; Name=4; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CATCCTTGGACATCGAGACTA 0.368 NA 11 131 0 0 0 0 WDR63 126820 broad.mit.edu 37 1 85560225 85560225 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:85560225C>T uc001dkt.2 + 10 1351 c.1160C>T c.(1159-1161)CCT>CTT p.P387L WDR63_uc009wcl.2_Missense_Mutation_p.P348L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 387 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TTCTCTGATCCTATACATCCT 0.383 NA 6 183 0 0 0 0 CLCA4 22802 broad.mit.edu 37 1 87031654 87031654 + Missense_Mutation SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:87031654T>C uc009wcs.2 + 6 949 c.905T>C c.(904-906)ATC>ACC p.I302T CLCA4_uc009wct.2_Missense_Mutation_p.I65T|CLCA4_uc009wcu.2_Missense_Mutation_p.I122T NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 302 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTGCTGAAGATCAGTCAAAGA 0.413 NA 25 84 0 0 0 0 SLC6A17 388662 broad.mit.edu 37 1 110709557 110709557 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:110709557G>A uc009wfq.2 + 2 467 c.6G>A c.(4-6)CCG>CCA p.P2P NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 2 Cytoplasmic (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CATCAATGCCGAAGAACAGCA 0.572 NA 12 11 0 0 0 0 NBPF15 284565 broad.mit.edu 37 1 148594513 148594513 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:148594513G>A uc001esc.2 + 19 2375 c.1886G>A c.(1885-1887)AGA>AAA p.R629K NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 629 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) CAGCACTACAGAAGTGTGTTT 0.438 NA 18 421 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157557115 157557115 + Silent SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:157557115C>G uc001fqw.2 - 5 934 c.798G>C c.(796-798)GTG>GTC p.V266V FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 266 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TGTTACCCCTCACTGTTTCAG 0.572 NA 108 218 0 0 0 0 CFHR4 10877 broad.mit.edu 37 1 196871631 196871631 + Missense_Mutation SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:196871631G>T uc001gto.2 + 2 211 c.142G>T c.(142-144)GCA>TCA p.A48S CFHR4_uc009wyy.2_Missense_Mutation_p.A47S|CFHR4_uc001gtp.2_Missense_Mutation_p.A48S NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 48 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TCCAGCAGCTGCAGGACAATC 0.363 NA 20 117 4.35e-09 4.93e-09 1 0 USH2A 7399 broad.mit.edu 37 1 215955425 215955425 + Missense_Mutation SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:215955425G>T uc001hku.1 - 54 11086 c.10699C>A c.(10699-10701)CTG>ATG p.L3567M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3567 Extracellular (Potential).|Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAGCTTTCAGCTGATATGAA 0.438 NA HNSCC(13;0.011) 26 64 2.42e-17 2.79e-17 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72511852 72511852 + Silent SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr10:72511852G>T uc001jrh.2 + 18 2598 c.2598G>T c.(2596-2598)GGG>GGT p.G866G ADAMTS14_uc001jrg.2_Silent_p.G869G NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 866 TSP type-1 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 ACCCCATAGGGATCCAGTTCA 0.662 NA 8 20 0.00307968 0.00319889 1 0 BLNK 29760 broad.mit.edu 37 10 97956812 97956812 + Nonsense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr10:97956812G>C uc001kls.3 - 16 1281 c.1103C>G c.(1102-1104)TCA>TGA p.S368* BLNK_uc001kme.3_Nonsense_Mutation_p.S263*|BLNK_uc001klt.3_Nonsense_Mutation_p.S259*|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Intron|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Nonsense_Mutation_p.S345*|BLNK_uc001kly.3_Intron|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Intron|BLNK_uc001kmb.3_Nonsense_Mutation_p.S164*|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Nonsense_Mutation_p.S286*|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 368 SH2. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) AATAAGAAATGATCCATCCTG 0.269 NA 5 36 0 0 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133962932 133962932 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr10:133962932C>T uc001lkx.3 + 14 1865 c.1865C>T c.(1864-1866)TCA>TTA p.S622L JAKMIP3_uc009yba.1_Missense_Mutation_p.S59L NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GAGAGGAAGTCACCCGCCATC 0.647 NA 6 12 0 0 0 0 ART1 417 broad.mit.edu 37 11 3680852 3680852 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:3680852C>G uc001lye.1 + 3 204 c.103C>G c.(103-105)CAA>GAA p.Q35E ART1_uc009yeb.1_Missense_Mutation_p.Q35E NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 35 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) CCTCTTCTCTCAAGAGATTCA 0.602 NA 12 38 0 0 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537578 5537578 + Missense_Mutation SNP G G C rs140401116 TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:5537578G>C uc001maz.3 - 1 379 c.94C>G c.(94-96)CGA>GGA p.R32G HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 32 Ubiquitin-like. large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) ACTATCACTCGAGTGGCACTT 0.483 NA 4 91 0 0 0 0 KIF18A 81930 broad.mit.edu 37 11 28084055 28084055 + Missense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:28084055C>A uc001msc.2 - 12 1781 c.1599G>T c.(1597-1599)AAG>AAT p.K533N NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 533 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 GAAGATCTTTCTTGAGTTCCT 0.323 NA 22 49 4.4e-07 4.9e-07 1 0 SCYL1 57410 broad.mit.edu 37 11 65304114 65304114 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:65304114C>T uc001oea.1 + 13 1786 c.1709C>T c.(1708-1710)GCA>GTA p.A570V SCYL1_uc009yqk.2_Missense_Mutation_p.A570V|SCYL1_uc001oeb.1_Missense_Mutation_p.A570V|SCYL1_uc001oec.1_Missense_Mutation_p.A570V|SCYL1_uc001oed.1_Missense_Mutation_p.A427V|SCYL1_uc001oee.1_Missense_Mutation_p.A214V NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 570 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 GCTAGCTGGGCAGGCTGGGCC 0.627 NA 12 67 0 0 0 0 SYT12 91683 broad.mit.edu 37 11 66811318 66811318 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:66811318G>A uc009yrl.2 + 5 1061 c.831G>A c.(829-831)CAG>CAA p.Q277Q SYT12_uc001oju.2_Silent_p.Q277Q NM_177963 NP_808878 Q8IV01 SYT12_HUMAN synaptotagmin XII 277 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ovary(1) 1 TACAGGACCAGAACAAGGTAA 0.552 NA 14 49 0 0 0 0 ANO1 55107 broad.mit.edu 37 11 70007358 70007358 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:70007358G>A uc001opj.2 + 17 1975 c.1670G>A c.(1669-1671)CGG>CAG p.R557Q ANO1_uc001opk.1_Missense_Mutation_p.R499Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R266Q NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 557 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CCCTCCGTGCGGTCCAACATC 0.592 NA 23 69 0 0 0 0 FZD4 8322 broad.mit.edu 37 11 86662820 86662820 + Silent SNP A A G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:86662820A>G uc001pce.2 - 2 1284 c.978T>C c.(976-978)ACT>ACC p.T326T PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 326 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCAAAAACCAAGTGAGTGTCA 0.453 NA 4 22 0 0 0 0 WNK1 65125 broad.mit.edu 37 12 989016 989016 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:989016C>T uc001qio.3 + 11 3158 c.2651C>T c.(2650-2652)GCG>GTG p.A884V WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 884 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACAACAGCTGCGATCCCGGGG 0.547 NA 25 95 0 0 0 0 FKBP4 2288 broad.mit.edu 37 12 2909727 2909727 + Missense_Mutation SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:2909727T>C uc001qkz.2 + 8 1214 c.1016T>C c.(1015-1017)ATT>ACT p.I339T NM_002014 NP_002005 Q02790 FKBP4_HUMAN FK506 binding protein 52 339 TPR 2.|Interaction with tubulin (By similarity). negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging 0 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) TCTGCTGCCATTGAAAGCTGT 0.532 NA 9 39 0 0 0 0 AICDA 57379 broad.mit.edu 37 12 8757515 8757515 + Missense_Mutation SNP T T A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:8757515T>A uc001qur.2 - 4 510 c.431A>T c.(430-432)TAT>TTT p.Y144F AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 144 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) GCAGTAAAAATAATCTTCAAA 0.428 NA Immune_Deficiency_with_Hyper-IgM 10 29 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20801805 20801805 + Missense_Mutation SNP G G A rs148455779 TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:20801805G>A uc001reh.1 + 13 2771 c.2749G>A c.(2749-2751)GTA>ATA p.V917I NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 917 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTTTGACTTCGTAGCCAAATT 0.269 NA 18 60 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53680134 53680134 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:53680134C>T uc001sck.2 + 18 3705 c.3614C>T c.(3613-3615)TCC>TTC p.S1205F ESPL1_uc001scj.2_Missense_Mutation_p.S880F|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1205 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CTCCAAGCTTCCCTGAATCAT 0.587 NA 28 99 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57571375 57571375 + Splice_Site SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:57571375G>T uc001snd.2 + 26 4827 c.4361_splice c.e26+1 p.R1454_splice NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTGACGCCAGGTCAGCACCCT 0.652 NA 9 19 2.74e-10 3.13e-10 1 0 LRIG3 121227 broad.mit.edu 37 12 59272720 59272720 + Nonsense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:59272720C>A uc001sqr.2 - 14 2215 c.1969G>T c.(1969-1971)GAG>TAG p.E657* LRIG3_uc009zqh.2_Nonsense_Mutation_p.E597*|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 657 Ig-like C2-type 2. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) ACGTCATCCTCGGGCATCACA 0.552 NA 9 95 0.000274275 0.000290515 1 0 PPFIA2 8499 broad.mit.edu 37 12 81762943 81762943 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:81762943G>A uc001szo.1 - 12 1458 c.1297C>T c.(1297-1299)CGT>TGT p.R433C 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 2 359 ovary(3)|lung(2)|pancreas(1) 6 TGTCTCATACGTTCTTCAATA 0.318 NA 6 17 0 0 0 0 XPO4 64328 broad.mit.edu 37 13 21375044 21375044 + Missense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr13:21375044C>A uc001unq.3 - 14 1939 c.1903G>T c.(1903-1905)GGC>TGC p.G635C NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 635 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) ATATCTTTGCCCATCTGGGGA 0.393 NA 35 142 4.32e-19 5e-19 1 0 RXFP2 122042 broad.mit.edu 37 13 32339254 32339254 + Missense_Mutation SNP A A C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr13:32339254A>C uc001utt.2 + 4 471 c.400A>C c.(400-402)ATG>CTG p.M134L RXFP2_uc010aba.2_Missense_Mutation_p.M117L NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 134 Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GTCTGTGCCGATGATTTCTAA 0.348 NA 6 73 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47530570 47530570 + Silent SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr14:47530570T>C uc001wwj.3 - 7 1396 c.1200A>G c.(1198-1200)ACA>ACG p.T400T MDGA2_uc001wwi.3_Silent_p.T171T|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 400 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TGTCCAAGTTTGTTGTTCCCG 0.403 NA 8 182 0 0 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68050595 68050596 + Silent DNP GC GC AT TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr14:68050595_68050596GC>AT uc001xjl.1 + 25 3706_3707 c.3564_3565GC>AT c.(3562-3567)CAGCTG>CAATTG p.1188_1189QL>QL PLEKHH1_uc010tsw.1_Silent_p.756_757QL>QL|PLEKHH1_uc001xjn.1_Silent_p.703_704QL>QL|PLEKHH1_uc010tsx.1_Silent_p.53_54QL>QL|PLEKHH1_uc001xjo.1_Silent_p.53_54QL>QL|PLEKHH1_uc001xjp.1_Silent_p.53_54QL>QL NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 1188_1189 FERM. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCGCTGAACAGCTGAGGTAGGT 0.584 NA OREG0022749 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257020 69257020 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr14:69257020C>G uc001xkh.1 - 2 377 c.247G>C c.(247-249)GAC>CAC p.D83H ZFP36L1_uc001xki.1_Missense_Mutation_p.D83H NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 83 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AAGCGGCTGTCTCGCGAGCTC 0.682 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 31 0 0 0 0 PTPN21 11099 broad.mit.edu 37 14 88934592 88934592 + Missense_Mutation SNP T T G rs151002751 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr14:88934592T>G uc001xwv.3 - 19 3745 c.3414A>C c.(3412-3414)AGA>AGC p.R1138S PTPN21_uc010twc.1_Missense_Mutation_p.R934S NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 1138 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TGTCCAGCACTCTCGGGATGT 0.512 NA 5 133 0 0 0 0 ADSSL1 122622 broad.mit.edu 37 14 105201381 105201381 + Missense_Mutation SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr14:105201381G>T uc001ypd.2 + 2 291 c.217G>T c.(217-219)GTG>TTG p.V73L INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.V116L|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 73 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CGGCCACACGGTGGTGGTGGA 0.627 NA 4 21 0.00909568 0.00935722 1 0 DUOX1 53905 broad.mit.edu 37 15 45428812 45428812 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr15:45428812C>T uc001zus.1 + 10 1357 c.1011C>T c.(1009-1011)GGC>GGT p.G337G DUOX1_uc001zut.1_Silent_p.G337G|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 337 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TGCCCCCTGGCGTCTACATGA 0.592 NA 11 52 0 0 0 0 TRPM7 54822 broad.mit.edu 37 15 50867173 50867173 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr15:50867173G>A uc001zyt.3 - 34 5159 c.4895C>T c.(4894-4896)ACC>ATC p.T1632I TRPM7_uc001zyr.2_Missense_Mutation_p.T69I NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1632 Cytoplasmic (Potential).|Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTCTGACCAGGTACACTGTAC 0.388 NA 33 115 0 0 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042710 75042710 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr15:75042710G>A uc002ayr.1 + 2 695 c.631G>A c.(631-633)GAG>AAG p.E211K NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 211 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GCACTTCCCTGAGAGTAGCGA 0.577 NA 26 173 0 0 0 0 PDXDC1 23042 broad.mit.edu 37 16 15110041 15110041 + Missense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr16:15110041G>C uc002dda.3 + 9 1007 c.783G>C c.(781-783)GAG>GAC p.E261D PDXDC1_uc010uzl.1_Missense_Mutation_p.E246D|PDXDC1_uc010uzm.1_Missense_Mutation_p.E170D|PDXDC1_uc002dcz.2_Missense_Mutation_p.E238D|PDXDC1_uc002ddb.3_Missense_Mutation_p.E234D|PDXDC1_uc010uzn.1_Missense_Mutation_p.E233D|PDXDC1_uc002ddc.2_Missense_Mutation_p.E261D NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 261 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) AACTCTGTGAGCAGTATGGCA 0.502 NA 8 55 0 0 0 0 HPR 3250 broad.mit.edu 37 16 72110502 72110502 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr16:72110502G>A uc002fby.2 + 5 599 c.569G>A c.(568-570)GGG>GAG p.G190E TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 190 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) GTAGATATTGGGCTCATCAAA 0.448 NA 15 75 0 0 0 0 KCNG4 93107 broad.mit.edu 37 16 84270496 84270496 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr16:84270496C>T uc010voc.1 - 2 717 c.596G>A c.(595-597)CGC>CAC p.R199H KCNG4_uc002fhu.1_Missense_Mutation_p.R199H NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 199 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CAGGCCCCAGCGCGAGGAGTG 0.677 NA 15 36 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 26 24 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10542363 10542363 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr17:10542363C>G uc002gmq.1 - 24 3323 c.3246G>C c.(3244-3246)AAG>AAC p.K1082N NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1082 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.K1082N(1) ovary(4)|central_nervous_system(2)|pancreas(1) 7 GGGCATACTTCTTGAGCCTTT 0.398 NA 22 71 0 0 0 0 KRT14 3861 broad.mit.edu 37 17 39740142 39740142 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr17:39740142C>G uc002hxf.1 - 4 858 c.797G>C c.(796-798)GGA>GCA p.G266A JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.G266A NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 266 Rod.|Linker 12. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) ATTGACATCTCCACCCACCTG 0.577 NA 9 108 0 0 0 0 SPOP 8405 broad.mit.edu 37 17 47679366 47679366 + Missense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr17:47679366C>A uc010dbk.2 - 10 1473 c.841G>T c.(841-843)GCC>TCC p.A281S SPOP_uc002ipb.2_Missense_Mutation_p.A281S|SPOP_uc002ipc.2_Missense_Mutation_p.A281S|SPOP_uc002ipd.2_Missense_Mutation_p.A281S|SPOP_uc002ipe.2_Missense_Mutation_p.A281S|SPOP_uc002ipf.2_Missense_Mutation_p.A281S|SPOP_uc002ipg.2_Missense_Mutation_p.A281S NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein 281 BTB. mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 CGCTCCAGGGCATACTGTAAA 0.493 NA Prostate(2;0.17) 42 45 6.49e-15 7.46e-15 1 0 SGCA 6442 broad.mit.edu 37 17 48245850 48245850 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr17:48245850C>T uc002iqi.2 + 5 537 c.501C>T c.(499-501)CCC>CCT p.P167P SGCA_uc010wmh.1_Silent_p.P65P|SGCA_uc002iqj.2_Silent_p.P167P|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 167 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 TCTGGGAGCCCGGAGAGCTTC 0.642 NA 5 1 0 0 0 0 GNAL 2774 broad.mit.edu 37 18 11872355 11872355 + Missense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr18:11872355G>C uc010dkz.2 + 11 1135 c.889G>C c.(889-891)GAC>CAC p.D297H GNAL_uc002kqc.2_Missense_Mutation_p.D374H|GNAL_uc002kqd.2_Missense_Mutation_p.D297H|GNAL_uc010wzt.1_Missense_Mutation_p.D90H NM_001142339 NP_001135811 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), 297 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 AAAAATTGAAGACTATTTCCC 0.333 NA 24 71 0 0 0 0 TRAPPC5 126003 broad.mit.edu 37 19 7747352 7747352 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:7747352G>A uc002mhi.1 + 2 283 c.213G>A c.(211-213)GCG>GCA p.A71A TRAPPC5_uc002mhj.1_Silent_p.A71A|TRAPPC5_uc002mhk.1_Silent_p.A71A NM_001042462 NP_001035927 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 71 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding 0 CGCTGGTGGCGCGCGAAAAGG 0.711 NA 10 27 0 0 0 0 LPPR2 64748 broad.mit.edu 37 19 11470246 11470246 + Silent SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:11470246C>G uc002mre.1 + 4 442 c.105C>G c.(103-105)CGC>CGG p.R35R LPPR2_uc002mrf.1_Intron|LPPR2_uc010dxy.1_5'Flank NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 35 integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 TTGCTTACCGCCTGGAGTTCA 0.622 NA 9 49 0 0 0 0 OR10H1 26539 broad.mit.edu 37 19 15918404 15918404 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:15918404G>A uc002nbq.2 - 1 533 c.444C>T c.(442-444)TCC>TCT p.S148S NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACCAGCCCAGGAGCAGCCCA 0.632 NA 4 82 0 0 0 0 SIN3B 23309 broad.mit.edu 37 19 16974605 16974605 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:16974605G>A uc002ney.1 + 11 1491 c.1477G>A c.(1477-1479)GAG>AAG p.E493K SIN3B_uc002nez.1_Missense_Mutation_p.E461K|SIN3B_uc010xpi.1_Missense_Mutation_p.E51K NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 493 Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 CGAGCGCTTCGAGGTGTGTGT 0.612 NA 12 41 0 0 0 0 ZNF100 163227 broad.mit.edu 37 19 21909496 21909496 + Missense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:21909496G>C uc002nqi.2 - 5 1817 c.1618C>G c.(1618-1620)CTA>GTA p.L540V ZNF100_uc002nqh.2_Missense_Mutation_p.L476V NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACATTTGTAGGGTTTCTCTC 0.363 NA 3 44 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22157388 22157388 + Missense_Mutation SNP A A G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:22157388A>G uc002nqp.2 - 4 597 c.448T>C c.(448-450)TAT>CAT p.Y150H ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTTGCATATTTGCCACGT 0.328 NA 21 81 0 0 0 0 MAG 4099 broad.mit.edu 37 19 35791165 35791165 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:35791165C>T uc002nyy.1 + 6 977 c.828C>T c.(826-828)GAC>GAT p.D276D MAG_uc002nyx.1_Silent_p.D276D|MAG_uc010eds.1_Silent_p.D251D|MAG_uc002nyz.1_Silent_p.D276D NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 276 Ig-like C2-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGATGCGGGACGGGACAGTCC 0.687 NA 4 14 0 0 0 0 HIPK4 147746 broad.mit.edu 37 19 40887043 40887043 + Silent SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:40887043G>C uc002onp.2 - 3 1140 c.855C>G c.(853-855)CTC>CTG p.L285L NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 285 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CCAACGACTTGAGCATATACT 0.632 NA 12 34 0 0 0 0 B3GNT8 374907 broad.mit.edu 37 19 41932174 41932174 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr19:41932174C>T uc002oqs.2 - 3 964 c.510G>A c.(508-510)ACG>ACA p.T170T CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 170 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 GACTGCCCCACGTCTCTCTCA 0.627 NA 22 76 0 0 0 0 VIT 5212 broad.mit.edu 37 2 37028521 37028521 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:37028521C>T uc002rpl.2 + 13 1357 c.1136C>T c.(1135-1137)ACT>ATT p.T379I VIT_uc002rpm.2_Missense_Mutation_p.T357I|VIT_uc010ezv.2_Missense_Mutation_p.T335I|VIT_uc010ezw.2_Missense_Mutation_p.T336I NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 364 VWFA 1. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GAGAAAATTACTCAGAGAGGA 0.393 NA 13 167 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 99013475 99013475 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:99013475G>A uc002syt.2 + 8 2259 c.1842G>A c.(1840-1842)GAG>GAA p.E614E CNGA3_uc002syu.2_Silent_p.E596E|CNGA3_uc010fij.2_Silent_p.E618E NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 614 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 TGATCGATGAGGAGCTGGCCA 0.622 NA 9 18 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 99013493 99013493 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:99013493C>T uc002syt.2 + 8 2277 c.1860C>T c.(1858-1860)GGC>GGT p.G620G CNGA3_uc002syu.2_Silent_p.G602G|CNGA3_uc010fij.2_Silent_p.G624G NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 620 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CCAGGGCGGGCGCGGACCCCA 0.622 NA 3 17 0 0 0 0 EPB41L5 57669 broad.mit.edu 37 2 120925517 120925517 + Missense_Mutation SNP A A C rs143558813 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:120925517A>C uc002tmg.2 + 24 2195 c.2069A>C c.(2068-2070)CAT>CCT p.H690P EPB41L5_uc010fll.2_Intron|EPB41L5_uc010flm.2_Missense_Mutation_p.H493P NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 690 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 AAGGAGGGACATGGTAATAAA 0.453 NA 5 100 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152539240 152539240 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:152539240C>G uc010fnx.2 - 29 3070 c.2879G>C c.(2878-2880)GGC>GCC p.G960A NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 960 Nebulin 23. 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) AGGCACCCAGCCACAACCTTT 0.438 NA 3 19 0 0 0 0 HOXD3 3232 broad.mit.edu 37 2 177036312 177036312 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:177036312C>T uc002ukt.1 + 3 785 c.609C>T c.(607-609)AGC>AGT p.S203S NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 203 Homeobox. anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CATACACGAGCGCGCAGCTGG 0.642 NA 11 35 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216274717 216274717 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:216274717C>T uc002vfa.2 - 14 2328 c.2062G>A c.(2062-2064)GGC>AGC p.G688S FN1_uc002vfb.2_Missense_Mutation_p.G688S|FN1_uc002vfc.2_Missense_Mutation_p.G688S|FN1_uc002vfd.2_Missense_Mutation_p.G688S|FN1_uc002vfe.2_Missense_Mutation_p.G688S|FN1_uc002vff.2_Missense_Mutation_p.G688S|FN1_uc002vfg.2_Missense_Mutation_p.G688S|FN1_uc002vfh.2_Missense_Mutation_p.G688S|FN1_uc002vfi.2_Missense_Mutation_p.G688S|FN1_uc002vfj.2_Missense_Mutation_p.G688S NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 688 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTTGGTGGCCGTACTGCTGG 0.552 NA 19 94 0 0 0 0 NHEJ1 79840 broad.mit.edu 37 2 220033735 220033735 + Splice_Site SNP A A T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:220033735A>T uc002vjq.3 - 4 c.580_splice c.e4+1 SLC23A3_uc010zkr.1_Intron|SLC23A3_uc010zks.1_Intron|SLC23A3_uc010fwb.2_Intron|SLC23A3_uc002vjs.1_Intron|SLC23A3_uc002vjt.1_Intron Q9H9Q4 NHEJ1_HUMAN Synthetic construct DNA, clone: pF1KE1061, Homo sapiens NHEJ1 gene for nonhomologous end-joining factor 1, without stop codon, in Flexi system. B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) ATCCCTTCTCACCTCCAGATA 0.557 NA Direct_reversal_of_damage|NHEJ 12 31 0 0 0 0 JAG1 182 broad.mit.edu 37 20 10630209 10630209 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr20:10630209C>T uc002wnw.2 - 10 1825 c.1309G>A c.(1309-1311)GAC>AAC p.D437N JAG1_uc010gcd.1_5'UTR NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 437 EGF-like 6; calcium-binding (Potential).|Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GGAAGACAGTCGCAGTAGTAG 0.458 NA Alagille_Syndrome 9 39 0 0 0 0 PCSK2 5126 broad.mit.edu 37 20 17434530 17434530 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr20:17434530C>T uc002wpm.2 + 9 1349 c.1029C>T c.(1027-1029)TAC>TAT p.Y343Y PCSK2_uc002wpl.2_Silent_p.Y324Y|PCSK2_uc010zrm.1_Silent_p.Y308Y NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 343 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity p.Y343Y(1) ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGCCCTGTACGACGAGAGCT 0.597 NA 24 50 0 0 0 0 CD93 22918 broad.mit.edu 37 20 23065975 23065975 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr20:23065975G>A uc002wsv.2 - 1 1003 c.855C>T c.(853-855)TGC>TGT p.C285C NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 285 EGF-like 1.|Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GTCGGCAGCCGCAGAGGAAGG 0.647 NA 18 125 0 0 0 0 MANBAL 63905 broad.mit.edu 37 20 35929759 35929759 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr20:35929759C>T uc002xgu.2 + 3 305 c.93C>T c.(91-93)ATC>ATT p.I31I MANBAL_uc002xgv.2_Silent_p.I31I|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA NM_022077 NP_071360 Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 31 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(115;0.00878) TGGGAGCCATCTTCCAGCTCA 0.602 NA 5 140 0 0 0 0 LPIN3 64900 broad.mit.edu 37 20 39978495 39978495 + Silent SNP C C T rs150401004 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr20:39978495C>T uc002xjx.2 + 6 811 c.720C>T c.(718-720)GCC>GCT p.A240A LPIN3_uc010ggh.2_Silent_p.A241A|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 240 fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) CCCTAAGAGCCGAGTCCCACA 0.637 NA 12 58 0 0 0 0 WFDC8 90199 broad.mit.edu 37 20 44181876 44181876 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr20:44181876C>T uc002xow.2 - 5 564 c.485G>A c.(484-486)CGT>CAT p.R162H WFDC8_uc002xox.2_Missense_Mutation_p.R162H NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 162 WAP 2. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) ACACTCCTTACGTTCAGTGAA 0.488 NA 11 58 0 0 0 0 RRP1 8568 broad.mit.edu 37 21 45213246 45213246 + Missense_Mutation SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr21:45213246G>T uc002zds.2 + 4 414 c.321G>T c.(319-321)TGG>TGT p.W107C RRP1_uc011aez.1_Missense_Mutation_p.W107C|RRP1_uc010gpk.1_5'UTR|RRP1_uc010gpl.1_Missense_Mutation_p.W5C NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 107 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) ATCGCGAGTGGACGGGCATTG 0.612 NA 9 122 4.69e-08 5.24e-08 1 0 CABIN1 23523 broad.mit.edu 37 22 24480679 24480679 + Missense_Mutation SNP G G C rs35231087 TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr22:24480679G>C uc002zzi.1 + 21 3185 c.3058G>C c.(3058-3060)GAG>CAG p.E1020Q CABIN1_uc002zzj.1_Missense_Mutation_p.E970Q|CABIN1_uc002zzl.1_Missense_Mutation_p.E1020Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1020 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCCTCGCACAGAGAGGCCAGC 0.557 NA 21 66 0 0 0 0 CPNE9 151835 broad.mit.edu 37 3 9757188 9757188 + Missense_Mutation SNP A A T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:9757188A>T uc003bsd.2 + 12 971 c.800A>T c.(799-801)AAG>ATG p.K267M NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 267 Poly-Lys. ovary(2) 2 Medulloblastoma(99;0.227) TGTAAGAAGAAGAAATATGTC 0.433 NA 25 43 0 0 0 0 CPNE9 151835 broad.mit.edu 37 3 9757198 9757198 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:9757198C>T uc003bsd.2 + 12 981 c.810C>T c.(808-810)GTC>GTT p.V270V NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 270 ovary(2) 2 Medulloblastoma(99;0.227) AGAAATATGTCAACTCAGGAA 0.408 NA 21 35 0 0 0 0 TGM4 7047 broad.mit.edu 37 3 44952543 44952543 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:44952543C>T uc003coc.3 + 12 1773 c.1700C>T c.(1699-1701)GCG>GTG p.A567V NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 567 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTCATCATTGCGGAAATTGTG 0.453 NA 14 61 0 0 0 0 SETD2 29072 broad.mit.edu 37 3 47098467 47098467 + Missense_Mutation SNP A A C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:47098467A>C uc003cqs.2 - 15 6860 c.6807T>G c.(6805-6807)AAT>AAG p.N2269K SETD2_uc003cqv.2_Missense_Mutation_p.N2336K|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2269 Gln-rich.|Low charge region. 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) AAACACTATAATTCTGTCCCT 0.512 NA N|F|S|Mis clear cell renal carcinoma 17 48 0 0 0 0 USP4 7375 broad.mit.edu 37 3 49362439 49362439 + Missense_Mutation SNP T T G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:49362439T>G uc003cwq.2 - 5 600 c.521A>C c.(520-522)AAC>ACC p.N174T USP4_uc003cwr.2_Missense_Mutation_p.N174T NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 174 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CGCAGGGATGTTGAATAGCTT 0.498 NA 21 109 0 0 0 0 TWF2 11344 broad.mit.edu 37 3 52263196 52263196 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:52263196C>T uc003ddd.2 - 9 1055 c.904G>A c.(904-906)GAG>AAG p.E302K TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR NM_007284 NP_009215 Q6IBS0 TWF2_HUMAN twinfilin-like protein 302 ADF-H 2. cytoskeleton|perinuclear region of cytoplasm actin binding|ATP binding stomach(1)|ovary(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCCGTCAGCTCTGCCCCATCG 0.652 NA 4 60 0 0 0 0 SFMBT1 51460 broad.mit.edu 37 3 52941219 52941219 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:52941219C>G uc003dgf.2 - 20 2766 c.2197G>C c.(2197-2199)GAA>CAA p.E733Q SFMBT1_uc010hmr.2_Missense_Mutation_p.E680Q|SFMBT1_uc003dgg.2_Missense_Mutation_p.E733Q|SFMBT1_uc003dgh.2_Missense_Mutation_p.E733Q NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 733 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GACTTTTTTTCTGACATTTCT 0.463 NA 8 87 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 97202858 97202858 + Missense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:97202858G>C uc010how.1 + 10 2198 c.2155G>C c.(2155-2157)GAG>CAG p.E719Q EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.E85Q|EPHA6_uc003drs.3_Missense_Mutation_p.E111Q|EPHA6_uc003drr.3_Missense_Mutation_p.E111Q|EPHA6_uc003drt.2_Missense_Mutation_p.E111Q|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 624 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity p.A719S(1) stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 ATTTGCAAAGGAGATTGATCC 0.308 NA 10 25 0 0 0 0 IMPG2 50939 broad.mit.edu 37 3 100963246 100963246 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:100963246C>T uc003duq.1 - 13 2132 c.1929G>A c.(1927-1929)GAG>GAA p.E643E IMPG2_uc011bhe.1_Silent_p.E506E NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 643 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGTCTTCAATCTCAGCTGGCA 0.413 NA 28 90 0 0 0 0 PODXL2 50512 broad.mit.edu 37 3 127379692 127379692 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:127379692G>A uc003ejq.2 + 3 845 c.821G>A c.(820-822)GGG>GAG p.G274E NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 274 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 CCAGCTGCAGGGCTTGGGGTA 0.637 NA 7 45 0 0 0 0 EEFSEC 60678 broad.mit.edu 37 3 128127010 128127010 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:128127010G>A uc003eki.2 + 7 1737 c.1699G>A c.(1699-1701)GAG>AAG p.E567K EEFSEC_uc003ekj.2_3'UTR NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 567 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 GGAGAGCGCCGAGCGGAGCGA 0.647 NA 3 43 0 0 0 0 IFT122 55764 broad.mit.edu 37 3 129180117 129180117 + Nonsense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:129180117C>T uc003emm.2 + 5 525 c.319C>T c.(319-321)CAA>TAA p.Q107* IFT122_uc003eml.2_Nonsense_Mutation_p.Q158*|IFT122_uc003emn.2_Nonsense_Mutation_p.Q107*|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Nonsense_Mutation_p.Q158*|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'Flank|IFT122_uc011bla.1_5'Flank|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_5'Flank NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 107 WD 3. camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 TATTACTCATCAACTGGCATC 0.398 NA 15 53 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178937422 178937422 + Missense_Mutation SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:178937422T>C uc003fjk.2 + 12 1967 c.1810T>C c.(1810-1812)TGT>CGT p.C604R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 604 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACTTCTGGACTGTAATTACCC 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 13 35 0 0 0 0 DVL3 1857 broad.mit.edu 37 3 183882981 183882981 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr3:183882981C>T uc003fms.2 + 6 820 c.680C>T c.(679-681)TCT>TTT p.S227F DVL3_uc011bqw.1_Missense_Mutation_p.S227F|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.S59F NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 227 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) CAGAAGGTTTCTCGGATTGAG 0.597 NA 13 30 0 0 0 0 ZNF718 255403 broad.mit.edu 37 4 154749 154749 + Missense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr4:154749G>C uc003fzt.3 + 8 407 c.274G>C c.(274-276)GAA>CAA p.E92Q ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) GCAGGGCATAGAAGATTCATT 0.328 NA 9 39 0 0 0 0 WFS1 7466 broad.mit.edu 37 4 6303197 6303197 + Missense_Mutation SNP G G A rs55814513 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr4:6303197G>A uc003giy.2 + 8 1841 c.1675G>A c.(1675-1677)GCC>ACC p.A559T WFS1_uc003gix.2_Missense_Mutation_p.A559T|WFS1_uc003giz.2_Missense_Mutation_p.A377T NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 559 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GCTGCTCCGCGCCTCCATCGG 0.652 NA 6 100 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24488189 24488189 + Missense_Mutation SNP G G C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr5:24488189G>C uc003jgr.1 - 12 2282 c.1950C>G c.(1948-1950)ATC>ATG p.I650M CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 650 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) TGTTGTCTCTGATATCTTCTT 0.428 NA HNSCC(23;0.051) 6 51 0 0 0 0 SV2C 22987 broad.mit.edu 37 5 75427937 75427937 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr5:75427937G>A uc003kei.1 + 2 496 c.362G>A c.(361-363)CGG>CAG p.R121Q NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 121 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AAGGACCGGCGGGAGCTGGAA 0.547 NA 7 49 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140180884 140180884 + Silent SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr5:140180884C>A uc003lhf.2 + 1 102 c.102C>A c.(100-102)TCC>TCA p.S34S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S34S NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 34 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACTACTCCGTCTCTGAGG 0.667 NA 26 73 1.85e-09 2.11e-09 1 0 PCDHB14 56122 broad.mit.edu 37 5 140605383 140605383 + Missense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr5:140605383C>A uc003ljb.2 + 1 2306 c.2306C>A c.(2305-2307)CCG>CAG p.P769Q PCDHB14_uc011dal.1_Missense_Mutation_p.P616Q NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 769 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCTGAAGCCGATTATCCCC 0.453 NA 8 90 5.49e-09 6.21e-09 1 0 SLIT3 6586 broad.mit.edu 37 5 168112816 168112816 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr5:168112816C>T uc003mab.2 - 31 3851 c.3431G>A c.(3430-3432)CGC>CAC p.R1144H SLIT3_uc010jjg.2_Missense_Mutation_p.R1151H NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1144 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTGGGCAGCGGCAGGTGGG 0.647 NA 4 20 0 0 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179321452 179321452 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr5:179321452G>A uc003mlh.2 - 4 548 c.511C>T c.(511-513)CGG>TGG p.R171W TBC1D9B_uc003mli.2_Missense_Mutation_p.R171W|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R171W NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 171 GRAM 1. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCCCTGCCGGGGCACGCGG 0.627 NA 3 41 0 0 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169860 33169860 + Missense_Mutation SNP C C G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:33169860C>G uc003odf.2 + 4 709 c.592C>G c.(592-594)CAC>GAC p.H198D RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.H198D|SLC39A7_uc011dqv.1_Missense_Mutation_p.H73D|SLC39A7_uc003odh.2_5'Flank|HSD17B8_uc003odi.1_5'Flank NM_001077516 NP_001070984 Q92504 S39A7_HUMAN solute carrier family 39, member 7 198 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity large_intestine(1) 1 ACCTCATTCTCACCACACTCT 0.527 NA 13 68 0 0 0 0 DAXX 1616 broad.mit.edu 37 6 33288181 33288181 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:33288181G>A uc003oec.2 - 4 1431 c.1227C>T c.(1225-1227)CCC>CCT p.P409P ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.P334P|DAXX_uc011dre.1_Silent_p.P421P|DAXX_uc003oed.2_Silent_p.P409P|DAXX_uc010juw.2_Silent_p.P334P NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 409 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 AGGAGGCTTCGGGGGTGTCTG 0.542 NA Mis|F|N Pancreatic neuroendocrine tumors 4 85 0 0 0 0 FILIP1 27145 broad.mit.edu 37 6 76024909 76024909 + Missense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:76024909C>A uc003pia.2 - 5 1012 c.639G>T c.(637-639)AAG>AAT p.K213N FILIP1_uc003phy.1_Missense_Mutation_p.K213N|FILIP1_uc003phz.2_Missense_Mutation_p.K114N|FILIP1_uc010kbe.2_Missense_Mutation_p.K216N|FILIP1_uc003pib.1_5'UTR NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 213 Potential. skin(3)|ovary(1) 4 GTTCAAGGAGCTTTTTTAACC 0.299 NA 7 29 8.13e-05 8.72e-05 1 0 SOBP 55084 broad.mit.edu 37 6 107854757 107854757 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:107854757C>T uc003prx.2 + 4 1020 c.516C>T c.(514-516)AGC>AGT p.S172S SOBP_uc003prw.1_Silent_p.S172S NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 172 FCS-type 1. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) AGGTGAAAAGCTTCTGCAGCG 0.512 NA 31 115 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112441515 112441515 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:112441515C>T uc003pvu.2 - 33 4945 c.4636G>A c.(4636-4638)GAG>AAG p.E1546K LAMA4_uc003pvv.2_Missense_Mutation_p.E1539K|LAMA4_uc003pvt.2_Missense_Mutation_p.E1539K NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1546 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTGTATTTCTCCTGGCTTCTA 0.418 NA 21 68 0 0 0 0 IGF2R 3482 broad.mit.edu 37 6 160453983 160453983 + Missense_Mutation SNP A A G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:160453983A>G uc003qta.2 + 9 1203 c.1055A>G c.(1054-1056)TAT>TGT p.Y352C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 352 Lumenal (Potential).|3. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GGTTCATCCTATATTTCAGAT 0.308 NA 21 74 0 0 0 0 UNC93A 54346 broad.mit.edu 37 6 167728857 167728857 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:167728857G>A uc003qvq.2 + 8 1466 c.1291G>A c.(1291-1293)GTG>ATG p.V431M UNC93A_uc003qvr.2_Missense_Mutation_p.V389M NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 431 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGTGGAGTGCGTGGAGTCCAA 0.547 NA 21 306 0 0 0 0 DLL1 28514 broad.mit.edu 37 6 170594698 170594698 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr6:170594698C>T uc003qxm.2 - 6 1291 c.821G>A c.(820-822)TGC>TAC p.C274Y NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 274 Extracellular (Potential).|EGF-like 2. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CTGGCAGTTGCACTGCCAGGG 0.627 NA 23 45 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4116798 4116798 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr7:4116798C>T uc003smx.2 + 21 3318 c.3179C>T c.(3178-3180)ACC>ATC p.T1060I SDK1_uc010kso.2_Missense_Mutation_p.T336I NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1060 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACTTCATCCACCATTTCTTCT 0.562 NA 6 27 0 0 0 0 EPO 2056 broad.mit.edu 37 7 100320671 100320671 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr7:100320671G>A uc003uwi.2 + 5 678 c.497G>A c.(496-498)CGC>CAC p.R166H EPO_uc011kkc.1_Missense_Mutation_p.R165H NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 166 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GACACTTTCCGCAAACTCTTC 0.572 NA 28 134 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103132413 103132413 + Missense_Mutation SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr7:103132413T>C uc003vca.2 - 58 9590 c.9430A>G c.(9430-9432)ACT>GCT p.T3144A RELN_uc010liz.2_Missense_Mutation_p.T3144A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3144 BNR 15. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCATCCTTAGTGTATTCCAGC 0.303 NA 7 16 0 0 0 0 NUP205 23165 broad.mit.edu 37 7 135323426 135323426 + Missense_Mutation SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr7:135323426G>A uc003vsw.2 + 38 5418 c.5387G>A c.(5386-5388)CGG>CAG p.R1796Q NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1796 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GATGGACCGCGGCAAGGTGAG 0.438 NA 43 108 0 0 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919983 142919983 + Missense_Mutation SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr7:142919983T>C uc011ksx.1 + 1 812 c.812T>C c.(811-813)TTT>TCT p.F271S NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 271 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) TCCAACATCTTTGACACTTAC 0.473 NA 33 86 0 0 0 0 TPD52 7163 broad.mit.edu 37 8 80954859 80954859 + Nonsense_Mutation SNP A A T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr8:80954859A>T uc003ybr.1 - 5 873 c.551T>A c.(550-552)TTA>TAA p.L184* TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Nonsense_Mutation_p.L167*|TPD52_uc003ybt.1_Nonsense_Mutation_p.L144*|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 184 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) ACTTGCCTTTAAGTTTTCGAC 0.308 NA 22 67 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103359220 103359220 + Missense_Mutation SNP T T A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr8:103359220T>A uc003ykr.1 - 6 520 c.487A>T c.(487-489)ACA>TCA p.T163S UBR5_uc003yks.1_Missense_Mutation_p.T163S NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 163 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCCCGTCCTGTCCGAATAACT 0.567 NA 24 197 0 0 0 0 INSL4 3641 broad.mit.edu 37 9 5233770 5233770 + Missense_Mutation SNP A A C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr9:5233770A>C uc003ziy.2 + 2 418 c.313A>C c.(313-315)AAG>CAG p.K105Q NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 105 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GCCATCATTGAAGAAAATAAT 0.393 NA 4 66 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625382 43625382 + Missense_Mutation SNP G G A rs143826416 by1000genomes TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr9:43625382G>A uc011lrb.1 - 4 3334 c.3305C>T c.(3304-3306)CCT>CTT p.P1102L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1102 integral to membrane 0 CTTGTGAATAGGGGGAAACAT 0.483 NA 7 227 0 0 0 0 ZNF322B 387328 broad.mit.edu 37 9 99961655 99961655 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr9:99961655C>T uc004axd.1 - 1 256 c.139G>A c.(139-141)GAA>AAA p.E47K uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron NM_199005 NP_945356 zinc finger protein 322B 0 Acute lymphoblastic leukemia(62;0.158) TGCTTGCATTCAAGGCACTGG 0.338 NA 11 303 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 119093591 119093591 + Silent SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr9:119093591C>T uc004bjn.2 + 11 3597 c.3216C>T c.(3214-3216)ATC>ATT p.I1072I PAPPA_uc011lxp.1_Silent_p.I767I|PAPPA_uc011lxq.1_Silent_p.I447I NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1072 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CTTGCACCATCAGCTACCCAT 0.473 NA 26 65 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32380945 32380945 + Missense_Mutation SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:32380945T>C uc004dda.1 - 37 5529 c.5285A>G c.(5284-5286)CAT>CGT p.H1762R DMD_uc004dcw.2_Missense_Mutation_p.H418R|DMD_uc004dcx.2_Missense_Mutation_p.H421R|DMD_uc004dcz.2_Missense_Mutation_p.H1639R|DMD_uc004dcy.1_Missense_Mutation_p.H1758R|DMD_uc004ddb.1_Missense_Mutation_p.H1754R|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1762 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCAAATCGATGGTTGAGCTC 0.483 NA 30 103 0 0 0 0 ZXDA 7789 broad.mit.edu 37 X 57935933 57935933 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:57935933C>T uc004dve.2 - 1 1135 c.922G>A c.(922-924)GGC>AGC p.G308S NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 308 Required for interaction with ZXDC.|C2H2-type 2. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AAGGTCCAGCCGCAGCCACCC 0.627 NA 7 24 0 0 0 0 COL4A6 1288 broad.mit.edu 37 X 107417817 107417817 + Silent SNP T T C TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:107417817T>C uc004enw.3 - 31 3097 c.2994A>G c.(2992-2994)CCA>CCG p.P998P COL4A6_uc004env.3_Silent_p.P997P|COL4A6_uc011msn.1_Silent_p.P997P|COL4A6_uc010npk.2_Silent_p.P997P NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 998 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CAGGTAGGCCTGGTGGTCCAG 0.537 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 17 45 0 0 0 0 ZNF449 203523 broad.mit.edu 37 X 134483215 134483215 + Nonsense_Mutation SNP G G T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:134483215G>T uc004eys.2 + 3 700 c.535G>T c.(535-537)GAA>TAA p.E179* ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.2_Nonsense_Mutation_p.E59* NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 179 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGCTACTGGAGAATGTCAGAA 0.537 NA 10 99 7.48e-07 8.31e-07 1 0 SLC9A6 10479 broad.mit.edu 37 X 135106627 135106627 + Missense_Mutation SNP C C T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:135106627C>T uc004ezj.2 + 12 1581 c.1505C>T c.(1504-1506)TCA>TTA p.S502L SLC9A6_uc004ezk.2_Missense_Mutation_p.S534L NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 502 Helical; (Potential). regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GCAATGCTGTCATGCTTGCAT 0.378 NA 19 119 0 0 0 0 TREX2 11219 broad.mit.edu 37 X 152710829 152710829 + Silent SNP G G A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:152710829G>A uc010nue.1 - 3 302 c.186C>T c.(184-186)CTC>CTT p.L62L TREX2_uc010nud.1_Silent_p.L20L|TREX2_uc011myp.1_Silent_p.L20L|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 63 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding large_intestine(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACACTGGGGAGCCCAGTGG 0.622 NA Editing_and_processing_nucleases 5 6 0 0 0 0 FAM3A 60343 broad.mit.edu 37 X 153740200 153740200 + Silent SNP T T A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chrX:153740200T>A uc004fls.1 - 3 409 c.132A>T c.(130-132)CCA>CCT p.P44P FAM3A_uc004flt.1_Silent_p.P58P|FAM3A_uc011mzp.1_Silent_p.P44P|FAM3A_uc004flu.1_Silent_p.P58P|FAM3A_uc011mzq.1_Silent_p.P44P|FAM3A_uc004flw.1_Silent_p.P44P NM_021806 NP_068578 P98173 FAM3A_HUMAN family 3, member A protein precursor 44 extracellular region large_intestine(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGAGCTCTCTGGACCTGTGG 0.632 NA OREG0003614 type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 36 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16475205 16475210 + In_Frame_Del DEL TTCAGC TTCAGC - rs146626026 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:16475205_16475210delTTCAGC uc001aya.1 - 3 623_628 c.486_491delGCTGAA c.(484-492)AAGCTGAAC>AAC p.KL162del EPHA2_uc010oca.1_In_Frame_Del_p.KL162del NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 162_163 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTCCTCCACGTTCAGCTTCACGTGGC 0.612 NA 25 48 --- --- --- --- NA NA NA NA KHDRBS1 10657 broad.mit.edu 37 1 32498892 32498892 + Frame_Shift_Del DEL T T - TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr1:32498892delT uc001bub.2 + 4 834 c.728delT c.(727-729)CTTfs p.L243fs KHDRBS1_uc001bua.1_Frame_Shift_Del_p.L204fs|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 243 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCTTATGCTCTTATGGCCCAT 0.458 NA 32 80 --- --- --- --- NA NA NA NA UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:5529918_5529920delTGG uc001may.1 - 2 955_957 c.869_871delCCA c.(868-873)ACCAGC>AGC p.T290del HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 290 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 NA 7 186 --- --- --- --- NA NA NA NA RIC3 79608 broad.mit.edu 37 11 8158952 8158953 + Frame_Shift_Ins INS - - T TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr11:8158952_8158953insT uc001mgd.2 - 4 547_548 c.493_494insA c.(493-495)ATCfs p.I165fs RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Frame_Shift_Ins_p.I165fs|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Frame_Shift_Ins_p.I115fs|RIC3_uc010rbm.1_Frame_Shift_Ins_p.I165fs|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 165 Potential.|Cytoplasmic (Potential). I -> F (in Ref. 6; AAH22455). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CACTCTGTTGATTAATTTTTCC 0.342 NA 7 166 --- --- --- --- NA NA NA NA SPSB2 84727 broad.mit.edu 37 12 6981568 6981569 + Frame_Shift_Del DEL TC TC - TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr12:6981568_6981569delTC uc001qrl.2 - 2 653_654 c.497_498delGA c.(496-498)AGAfs p.R166fs SPSB2_uc001qrm.2_Frame_Shift_Del_p.R166fs|SPSB2_uc010sfp.1_Frame_Shift_Del_p.R166fs|LRRC23_uc001qrn.1_5'Flank NM_001146316 NP_001139788 Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box 166 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding kidney(1) 1 CCACCAGCAGTCTCTCTGGCAC 0.644 NA OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 77 --- --- --- --- NA NA NA NA YLPM1 56252 broad.mit.edu 37 14 75230471 75230471 + Frame_Shift_Del DEL G G - TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr14:75230471delG uc001xqj.3 + 1 403 c.279delG c.(277-279)CCGfs p.P93fs NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 93 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CAGTGATGCCGGGGGGCGGCT 0.682 NA 7 38 --- --- --- --- NA NA NA NA GGCX 2677 broad.mit.edu 37 2 85779683 85779683 + Frame_Shift_Del DEL G G - TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:85779683delG uc002sps.2 - 10 1401 c.1295delC c.(1294-1296)ACAfs p.T432fs GGCX_uc010yss.1_Frame_Shift_Del_p.T271fs|GGCX_uc010yst.1_Frame_Shift_Del_p.T375fs NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 432 Lumenal (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CCGACTCTGTGTAAATACCTG 0.512 NA OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 174 --- --- --- --- NA NA NA NA NCL 4691 broad.mit.edu 37 2 232326268 232326285 + In_Frame_Del DEL TCGTCATCCTCATCATCT TCGTCATCCTCATCATCT - rs80005798 byFrequency TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr2:232326268_232326285delTCGTCATCCTCATCATCT uc002vru.2 - 3 720_737 c.579_596delAGATGATGAGGATGACGA c.(577-597)GAAGATGATGAGGATGACGAT>GAT p.EDDEDD193del SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 193_198 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) ctcatcgtcatcgtcatcctcatcatcttcgtcatcct 0.289 NA 21 85 --- --- --- --- NA NA NA NA PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd3ecf3-c87c-46c3-81f0-11e2f8936d61 5325b2e0-579a-4463-bf95-a1e6da6b0a33 g.chr7:92146721delT uc003uly.2 - 5 1204 c.1108delA c.(1108-1110)ATTfs p.I370fs PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 NA 7 156 --- --- --- --- NA NA NA NA