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 SAMD11 148398 broad.mit.edu 37 1 861349 861349 + Missense_Mutation SNP C C A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:861349C>A uc001abw.1 + 2 108 c.28C>A c.(28-30)CCT>ACT p.P10T SAMD11_uc001abv.1_Missense_Mutation_p.P10T NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 10 nucleus 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GCAGGTGCATCCTCCGATCTG 0.647 NA 7 73 0.000274275 0.000293152 1 0 TNFRSF4 7293 broad.mit.edu 37 1 1149108 1149108 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:1149108C>T uc001ade.2 - 2 208 c.203G>A c.(202-204)GGG>GAG p.G68E TNFRSF4_uc001adf.2_5'UTR NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 68 TNFR-Cys 2.|Extracellular (Potential). immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAAGCCCGGCCCGCACGGACG 0.692 NA 3 7 0 0 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13716862 13716862 + Missense_Mutation SNP T T G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:13716862T>G uc009vnz.1 + 2 379 c.349T>G c.(349-351)TCT>GCT p.S117A NM_001099851 NP_001093321 Q5VTA0 PRA17_HUMAN PRAME family member 17 117 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACTATATGGTCTGGAGCCAG 0.527 NA 21 123 0 0 0 0 HTR6 3362 broad.mit.edu 37 1 19992722 19992722 + Missense_Mutation SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:19992722T>C uc001bcl.2 + 1 943 c.476T>C c.(475-477)TTC>TCC p.F159S NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 159 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CTCGCCTCCTTCCTGCCCCTG 0.716 NA 6 39 0 0 0 0 CYP4A11 1579 broad.mit.edu 37 1 47407103 47407103 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:47407103C>T uc001cqp.3 - 1 54 c.3G>A c.(1-3)ATG>ATA p.M1I CYP4A11_uc001cqq.2_Missense_Mutation_p.M1I|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 1 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) CAGAGACACTCATGGTGCAGC 0.597 NA 13 91 0 0 0 0 C1orf87 127795 broad.mit.edu 37 1 60505607 60505607 + Silent SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:60505607C>T uc001czs.1 - 5 821 c.729G>A c.(727-729)AAG>AAA p.K243K NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 243 calcium ion binding ovary(1)|breast(1) 2 GAGAACCCCTCTTAGAAAATC 0.408 NA 17 327 0 0 0 0 ROR1 4919 broad.mit.edu 37 1 64608106 64608106 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:64608106G>A uc001dbj.2 + 7 1346 c.947G>A c.(946-948)AGC>AAC p.S316N ROR1_uc001dbi.3_Missense_Mutation_p.S316N|uc001dbl.2_Intron NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 316 Kringle.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 TGTTATAACAGCACAGGTGTG 0.502 NA 3 76 0 0 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048267 90048267 + Missense_Mutation SNP T T A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:90048267T>A uc001dni.2 + 7 565 c.58T>A c.(58-60)TTA>ATA p.L20I LRRC8B_uc001dnh.2_Missense_Mutation_p.L20I|LRRC8B_uc001dnj.2_Missense_Mutation_p.L20I NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 20 integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TTATCACATCTTAAAACCATG 0.483 NA 13 117 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103496741 103496741 + Missense_Mutation SNP C C G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:103496741C>G uc001dul.2 - 5 1029 c.711G>C c.(709-711)GAG>GAC p.E237D COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E237D|COL11A1_uc001dun.2_Missense_Mutation_p.E237D|COL11A1_uc009weh.2_Missense_Mutation_p.E237D NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 237 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GACTATAATGCTCACAGTAGT 0.458 NA 8 25 0 0 0 0 TRIM46 80128 broad.mit.edu 37 1 155148051 155148051 + Missense_Mutation SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:155148051T>C uc001fhs.1 + 2 336 c.253T>C c.(253-255)TCC>CCC p.S85P RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.S72P|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.S85P|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.S62P|TRIM46_uc009wpg.1_Missense_Mutation_p.S72P|TRIM46_uc009wpf.2_Missense_Mutation_p.S72P|TRIM46_uc001fhv.3_Missense_Mutation_p.S72P|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 85 intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTCCACCCCTTCCACCCGCAG 0.682 NA 4 59 0 0 0 0 SLC9A11 284525 broad.mit.edu 37 1 173503733 173503733 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:173503733A>G uc001giz.2 - 16 2287 c.1864T>C c.(1864-1866)TAT>CAT p.Y622H SLC9A11_uc009wwe.2_Missense_Mutation_p.Y180H|SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 622 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 ATCATAGGATAAATATATATC 0.259 NA 23 11 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197070787 197070787 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:197070787G>A uc001gtu.2 - 18 7851 c.7594C>T c.(7594-7596)CAT>TAT p.H2532Y ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H380Y NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2532 IQ 27. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ACAGCAGAATGCCATTGTCTG 0.343 NA 14 94 0 0 0 0 NR5A2 2494 broad.mit.edu 37 1 200017505 200017505 + Silent SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:200017505A>G uc001gvb.2 + 5 875 c.669A>G c.(667-669)CTA>CTG p.L223L NR5A2_uc001gvc.2_Silent_p.L177L|NR5A2_uc009wzh.2_Silent_p.L183L|NR5A2_uc010pph.1_Silent_p.L151L NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 223 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) CCAAAGGCCTACCTCTGAACC 0.512 NA 19 112 0 0 0 0 AGAP6 414189 broad.mit.edu 37 10 51768861 51768861 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr10:51768861A>G uc001jix.3 + 8 1374 c.976A>G c.(976-978)ATT>GTT p.I326V NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 326 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 TATGAAGAATATTCATAAAAA 0.433 NA 38 200 0 0 0 0 C10orf46 143384 broad.mit.edu 37 10 120513993 120513993 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr10:120513993G>A uc001lds.1 - 1 766 c.282C>T c.(280-282)TGC>TGT p.C94C C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 94 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) CGGCCGCGTCGCAGCTCTTCA 0.672 NA 4 22 0 0 0 0 SEC23IP 11196 broad.mit.edu 37 10 121685722 121685722 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr10:121685722G>A uc001leu.1 + 13 2368 c.2296G>A c.(2296-2298)GAA>AAA p.E766K SEC23IP_uc010qtc.1_Missense_Mutation_p.E555K|SEC23IP_uc009xzk.1_RNA NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 766 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TGAATCTTTTGAAGTTGGCGC 0.418 NA 9 143 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55658878 55658878 + Missense_Mutation SNP C C A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:55658878C>A uc010rip.1 + 7 1221 c.1129C>A c.(1129-1131)CTC>ATC p.L377I SPRYD5_uc010riq.1_Missense_Mutation_p.L234I NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 377 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) AGAGGAGGGACTCTTTCTTCT 0.463 NA 8 49 2.32e-09 2.62e-09 1 0 OR5J2 282775 broad.mit.edu 37 11 55945016 55945016 + Missense_Mutation SNP A A C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:55945016A>C uc010rjb.1 + 1 923 c.923A>C c.(922-924)AAA>ACA p.K308T NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) ATAGAAATGAAACATTTCCTC 0.388 NA 5 18 0 0 0 0 ACTN3 89 broad.mit.edu 37 11 66330402 66330402 + Missense_Mutation SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:66330402T>C uc001oio.1 + 21 2542 c.2524T>C c.(2524-2526)TTC>CTC p.F842L ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 842 focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 TGTAGCTTCCTTCAAGATCTT 0.612 NA 10 75 0 0 0 0 SAPS3 55291 broad.mit.edu 37 11 68341612 68341612 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:68341612A>G uc001onw.2 + 13 1646 c.1379A>G c.(1378-1380)CAC>CGC p.H460R SAPS3_uc001onv.2_Missense_Mutation_p.H460R|SAPS3_uc001ony.3_Missense_Mutation_p.H460R|SAPS3_uc001onx.2_Missense_Mutation_p.H460R|SAPS3_uc009ysh.2_Missense_Mutation_p.H409R|SAPS3_uc001onu.2_Missense_Mutation_p.H409R|SAPS3_uc010rqc.1_Missense_Mutation_p.H228R|SAPS3_uc010rqd.1_Missense_Mutation_p.H172R|SAPS3_uc001onz.2_5'Flank NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 460 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) TACATGGGACACCTAACGAGG 0.453 NA 29 71 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68571514 68571514 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:68571514G>A uc001oog.3 - 5 679 c.509C>T c.(508-510)TCG>TTG p.S170L CPT1A_uc001oof.3_Missense_Mutation_p.S170L|CPT1A_uc009ysj.2_Missense_Mutation_p.S170L NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 170 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GCGAGGCAGCGATGTCTGGAA 0.458 NA 7 54 0 0 0 0 NUMA1 4926 broad.mit.edu 37 11 71725761 71725761 + Nonsense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:71725761G>A uc001orl.1 - 15 2960 c.2788C>T c.(2788-2790)CAG>TAG p.Q930* NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q493*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q930*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q493*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.Q930*|NUMA1_uc001oro.1_Nonsense_Mutation_p.Q930* NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 930 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GCTGTTTCCTGCTGCTCACCT 0.607 NA T RARA APL 23 66 0 0 0 0 CHCHD8 51287 broad.mit.edu 37 11 73584274 73584274 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:73584274G>A uc001ouj.2 - 2 255 c.150C>T c.(148-150)GAC>GAT p.D50D CHCHD8_uc009ytw.2_RNA NM_016565 NP_057649 Q9NYJ1 CHCH8_HUMAN coiled-coil-helix-coiled-coil-helix domain 50 CHCH. 0 Breast(11;7.42e-05) ATTGCCGCCAGTCCTGGTGCT 0.622 NA 8 78 0 0 0 0 OR10S1 219873 broad.mit.edu 37 11 123847715 123847715 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr11:123847715G>A uc001pzm.1 - 1 684 c.684C>T c.(682-684)ATC>ATT p.I228I NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 228 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGGAAATAACGATGAGGATGA 0.592 NA 5 46 0 0 0 0 CPNE8 144402 broad.mit.edu 37 12 39069531 39069531 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr12:39069531C>T uc001rls.1 - 18 1504 c.1420G>A c.(1420-1422)GCA>ACA p.A474T CPNE8_uc001rlr.1_Missense_Mutation_p.A133T NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 474 VWFA. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TCAAATTCTGCTGGTCCAACA 0.318 NA 3 65 0 0 0 0 NUP37 79023 broad.mit.edu 37 12 102471261 102471261 + Silent SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr12:102471261A>G uc001tjc.2 - 6 626 c.561T>C c.(559-561)AAT>AAC p.N187N NUP37_uc009zub.1_Silent_p.N187N NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 187 WD 3. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 GGATTGTTCCATTCTTCTCTG 0.363 NA 9 68 0 0 0 0 PELI2 57161 broad.mit.edu 37 14 56755320 56755320 + Nonsense_Mutation SNP G G T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr14:56755320G>T uc001xch.2 + 4 761 c.475G>T c.(475-477)GGA>TGA p.G159* NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 159 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 ATTCGCCGCCGGATTTGACTC 0.438 NA 11 27 9.05e-12 1.03e-11 1 0 HIF1A 3091 broad.mit.edu 37 14 62203800 62203800 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr14:62203800A>G uc001xfq.2 + 9 1626 c.1222A>G c.(1222-1224)ATC>GTC p.I408V HIF1A_uc001xfr.2_Missense_Mutation_p.I408V|HIF1A_uc001xfs.2_Missense_Mutation_p.I409V NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 408 N-terminal VHL recognition site.|ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TGGAGACACAATCATATCTTT 0.393 NA 26 36 0 0 0 0 SYT16 83851 broad.mit.edu 37 14 62536483 62536483 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr14:62536483G>A uc001xfu.1 + 2 883 c.686G>A c.(685-687)CGT>CAT p.R229H SYT16_uc010tsd.1_Missense_Mutation_p.R229H NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 229 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AAATTCAGCCGTTCGTTGTTG 0.473 NA 14 102 0 0 0 0 MPP5 64398 broad.mit.edu 37 14 67787776 67787776 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr14:67787776A>G uc001xjc.2 + 13 2006 c.1540A>G c.(1540-1542)ACA>GCA p.T514A MPP5_uc001xjd.2_Missense_Mutation_p.T480A|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 514 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTGCCTAGATACAACCCGGAG 0.438 NA 3 84 0 0 0 0 GALNTL1 57452 broad.mit.edu 37 14 69805441 69805441 + Silent SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr14:69805441C>T uc010aqu.1 + 10 1134 c.1041C>T c.(1039-1041)TTC>TTT p.F347F GALNTL1_uc001xla.1_Silent_p.F347F|GALNTL1_uc001xlb.1_Silent_p.F347F NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 347 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GCCATGTCTTCAGGAAACGGC 0.483 NA 5 89 0 0 0 0 MYO9A 4649 broad.mit.edu 37 15 72227761 72227761 + Missense_Mutation SNP T T A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr15:72227761T>A uc002atl.3 - 17 2916 c.2443A>T c.(2443-2445)ACC>TCC p.T815S MYO9A_uc010biq.2_Missense_Mutation_p.T435S|MYO9A_uc002atn.1_Missense_Mutation_p.T796S NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 815 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 AGCAAGGAGGTGCCACTTGAT 0.393 NA 13 76 0 0 0 0 ABCA3 21 broad.mit.edu 37 16 2369816 2369816 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr16:2369816G>A uc002cpy.1 - 8 1351 c.639C>T c.(637-639)GCC>GCT p.A213A ABCA3_uc010bsk.1_Silent_p.A213A|ABCA3_uc010bsl.1_Silent_p.A213A NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 213 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CATGCTGCACGGCCAGGAAGC 0.652 NA 10 66 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20442585 20442585 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr16:20442585G>A uc002dhe.2 + 10 1397 c.1250G>A c.(1249-1251)GGG>GAG p.G417E NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 417 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GGAGAAGAGGGGAATGTTGCC 0.507 NA 18 151 0 0 0 0 ITFG1 81533 broad.mit.edu 37 16 47294551 47294551 + Missense_Mutation SNP C C G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr16:47294551C>G uc002eet.2 - 11 1188 c.1126G>C c.(1126-1128)GAG>CAG p.E376Q ITFG1_uc010vgg.1_Missense_Mutation_p.E121Q|ITFG1_uc010vgh.1_Missense_Mutation_p.E263Q NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 376 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CGACGCGCCTCTTCACAGCTT 0.438 NA 7 71 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66969474 66969474 + Missense_Mutation SNP C C A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr16:66969474C>A uc002eqr.2 + 1 1128 c.128C>A c.(127-129)CCG>CAG p.P43Q CES2_uc002eqq.2_Missense_Mutation_p.P43Q|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 Error:Variant_position_missing_in_O00748_after_alignment catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) TGGACAGACCCGGGGCAGCCT 0.682 NA 10 78 2.18e-05 2.37e-05 1 0 CENPT 80152 broad.mit.edu 37 16 67863714 67863714 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr16:67863714G>A uc002eun.3 - 12 1689 c.1140C>T c.(1138-1140)GAC>GAT p.D380D CENPT_uc002eum.3_Intron|CENPT_uc010vkc.1_Silent_p.D138D|CENPT_uc010vkd.1_Silent_p.D133D|CENPT_uc010vke.1_3'UTR NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 380 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CTCCTGGCCCGTCAGCCTCAG 0.612 NA 4 143 0 0 0 0 USP6 9098 broad.mit.edu 37 17 5042701 5042701 + Silent SNP T T G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr17:5042701T>G uc002gau.1 + 22 3460 c.1230T>G c.(1228-1230)CGT>CGG p.R410R USP6_uc002gav.1_Silent_p.R410R|USP6_uc010ckz.1_Silent_p.R93R|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 410 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 GGGCATCTCGTTTTTCCACGC 0.662 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 6 53 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10398332 10398332 + Silent SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr17:10398332C>T uc002gmo.2 - 37 5476 c.5382G>A c.(5380-5382)GTG>GTA p.V1794V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1794 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GCAGGTCCTTCACCGTCTGTT 0.557 NA 27 146 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10408543 10408543 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr17:10408543C>T uc002gmo.2 - 21 2466 c.2372G>A c.(2371-2373)CGA>CAA p.R791Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 791 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GGCCTGGGTTCGGGTAATCAG 0.458 NA 34 49 0 0 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27937744 27937744 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr17:27937744G>A uc002hei.2 + 8 977 c.864G>A c.(862-864)CGG>CGA p.R288R ANKRD13B_uc002heh.2_Silent_p.R156R|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 288 0 CCCGCACACGGACAGAACATC 0.542 NA 6 45 0 0 0 0 SLC39A6 25800 broad.mit.edu 37 18 33703502 33703502 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr18:33703502C>T uc010dmy.2 - 4 1386 c.1096G>A c.(1096-1098)GTT>ATT p.V366I SLC39A6_uc002kzj.2_Missense_Mutation_p.V91I NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 366 Helical; Name=2; (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 AAAGTCCCAACGGCCAGTGCC 0.393 NA 22 190 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50099892 50099892 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr19:50099892C>T uc002poo.3 + 4 2300 c.2300C>T c.(2299-2301)CCA>CTA p.P767L NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 475 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCTCCGCCCCCACCTCCCACG 0.721 NA 3 23 0 0 0 0 SLC1A4 6509 broad.mit.edu 37 2 65245373 65245373 + Silent SNP C C G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:65245373C>G uc010yqa.1 + 6 1525 c.1203C>G c.(1201-1203)CTC>CTG p.L401L SLC1A4_uc010ypy.1_Silent_p.L181L|SLC1A4_uc010ypz.1_Silent_p.L103L|SLC1A4_uc010fcv.2_Silent_p.L401L|SLC1A4_uc002sdh.2_Silent_p.L181L NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 401 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) ACGTAGAGCTCAACGCAGGAC 0.488 NA 7 64 0 0 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459945 107459945 + Missense_Mutation SNP A A C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:107459945A>C uc002tdq.2 - 2 608 c.489T>G c.(487-489)TTT>TTG p.F163L ST6GAL2_uc002tdr.2_Missense_Mutation_p.F163L|ST6GAL2_uc002tds.3_Missense_Mutation_p.F163L NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 163 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GTGCAGCCGGAAAAGCCCCCT 0.642 NA 19 174 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136566025 136566025 + Missense_Mutation SNP C C G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:136566025C>G uc002tuu.1 - 8 3903 c.3892G>C c.(3892-3894)GAG>CAG p.E1298Q NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1298 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TTCAAAGCCTCATTGATGTAG 0.443 NA 25 230 0 0 0 0 ACVR1 90 broad.mit.edu 37 2 158636996 158636996 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:158636996C>T uc002tzm.3 - 5 523 c.184G>A c.(184-186)GGC>AGC p.G62S ACVR1_uc002tzn.3_Missense_Mutation_p.G62S|ACVR1_uc010fog.2_Missense_Mutation_p.G62S NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 62 Extracellular (Potential). BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) ACGTGGAAGCCATCGTTGATG 0.552 NA 19 156 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163302670 163302670 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:163302670C>T uc002uch.1 - 7 1624 c.1412G>A c.(1411-1413)AGA>AAA p.R471K KCNH7_uc002uci.2_Missense_Mutation_p.R464K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 471 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ATATGTTGTTCTGAAGTTTAT 0.363 NA 4 38 0 0 0 0 HOXD10 3236 broad.mit.edu 37 2 176982013 176982013 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:176982013A>G uc002ukj.2 + 1 522 c.452A>G c.(451-453)TAT>TGT p.Y151C NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 151 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GTCCCTGGATATTTTAGACTG 0.552 NA 413 142 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179586740 179586740 + Silent SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:179586740T>C uc010zfg.1 - 75 19142 c.18918A>G c.(18916-18918)AAA>AAG p.K6306K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2967K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7233 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTGTTATCTTTTGACCAAG 0.418 NA 23 224 0 0 0 0 ANKAR 150709 broad.mit.edu 37 2 190592581 190592581 + Splice_Site SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:190592581G>A uc002uqw.1 + 12 2423 c.2423_splice c.e12-1 p.D808_splice ANKAR_uc002uqu.2_Splice_Site|ANKAR_uc002uqx.1_Splice_Site|ANKAR_uc002uqy.1_5'Flank NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TTCATTTGAAGATGTGTTGAA 0.343 NA 11 45 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225376094 225376094 + Missense_Mutation SNP A A C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr2:225376094A>C uc002vny.2 - 6 1244 c.860T>G c.(859-861)ATG>AGG p.M287R CUL3_uc010zls.1_Missense_Mutation_p.M221R|CUL3_uc010fwy.1_Missense_Mutation_p.M293R NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 287 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATTTTTCAACATATGTACTAG 0.323 NA 21 123 0 0 0 0 MN1 4330 broad.mit.edu 37 22 28193871 28193871 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr22:28193871G>A uc003adj.2 - 1 3616 c.2661C>T c.(2659-2661)GCC>GCT p.A887A NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 887 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CGGGTCCTGGGGCCCCAGGAG 0.711 NA T ETV6 AML|meningioma 14 18 0 0 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091841 + Missense_Mutation DNP TG TG CA rs142470496 byFrequency TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr22:29091840_29091841TG>CA uc003adu.1 - 11 1188_1189 c.1116_1117CA>TG c.(1114-1119)TCCAAG>TCTGAG p.K373E CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 373 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(2)|p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCCAAAATCTTGGAGTGCCCAA 0.416 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 3 51 0 0 0 0 SLC5A1 6523 broad.mit.edu 37 22 32487710 32487710 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr22:32487710G>A uc003amc.2 + 11 1473 c.1241G>A c.(1240-1242)CGC>CAC p.R414H SLC5A1_uc011alz.1_Missense_Mutation_p.R287H NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 414 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 GCCAAGGTCCGCAAGAGAGCA 0.522 NA 33 42 0 0 0 0 CNTN6 27255 broad.mit.edu 37 3 1320176 1320176 + Silent SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:1320176A>G uc003boz.2 + 5 705 c.438A>G c.(436-438)CCA>CCG p.P146P CNTN6_uc010hbo.2_Silent_p.P141P|CNTN6_uc011asj.1_Silent_p.P74P|CNTN6_uc003bpa.2_Silent_p.P146P NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 146 Ig-like C2-type 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCTGTGGCCCACCGCCACATT 0.453 NA 10 74 0 0 0 0 SATB1 6304 broad.mit.edu 37 3 18391087 18391087 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:18391087G>A uc003cbh.2 - 11 3602 c.1867C>T c.(1867-1869)CGG>TGG p.R623W SATB1_uc003cbi.2_Missense_Mutation_p.R655W|SATB1_uc003cbj.2_Missense_Mutation_p.R623W NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 623 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 GGGGGGAGCCGAGGGCCTGTC 0.463 NA 10 38 0 0 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751571 26751571 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:26751571G>A uc003cdp.2 + 2 997 c.408G>A c.(406-408)CTG>CTA p.L136L LRRC3B_uc003cdq.2_Silent_p.L136L NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 136 integral to membrane pancreas(2)|ovary(1)|skin(1) 4 TCAATAACCTGAAGGCCAGGG 0.507 NA 23 31 0 0 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28562601 28562601 + Silent SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:28562601A>G uc003ceh.2 + 9 1071 c.903A>G c.(901-903)GGA>GGG p.G301G ZCWPW2_uc003cei.2_Silent_p.G301G|ZCWPW2_uc010hfo.2_Silent_p.G106G NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 301 zinc ion binding ovary(2) 2 TAAATATGGGAGAAAAGGTAA 0.338 NA 10 20 0 0 0 0 SCN10A 6336 broad.mit.edu 37 3 38760236 38760236 + Missense_Mutation SNP A A C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:38760236A>C uc003ciq.2 - 20 3589 c.3589T>G c.(3589-3591)TTT>GTT p.F1197V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1197 Helical; Name=S2 of repeat III; (Potential).|III. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCGAACACAAAGATAAAGGTG 0.488 NA 7 71 0 0 0 0 CDCP1 64866 broad.mit.edu 37 3 45160021 45160021 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:45160021C>T uc003com.2 - 2 310 c.175G>A c.(175-177)GTC>ATC p.V59I CDCP1_uc003con.2_Missense_Mutation_p.V59I NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 59 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TTAGAAATGACGATGTAACAG 0.428 NA 4 94 0 0 0 0 DHX30 22907 broad.mit.edu 37 3 47888975 47888975 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:47888975C>T uc003cru.2 + 13 2485 c.2059C>T c.(2059-2061)CGC>TGC p.R687C DHX30_uc003crt.2_Missense_Mutation_p.R648C|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 687 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGTGCAGCAGCGCCTCCAGGA 0.632 NA 7 20 0 0 0 0 EPHA3 2042 broad.mit.edu 37 3 89390112 89390112 + Missense_Mutation SNP T T G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:89390112T>G uc003dqy.2 + 4 1086 c.861T>G c.(859-861)TGT>TGG p.C287W EPHA3_uc003dqx.1_Missense_Mutation_p.C287W|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 287 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATATGAAGTGTGCTAAGTGCC 0.408 NA TSP Lung(6;0.00050) 13 127 0 0 0 0 KIAA1407 57577 broad.mit.edu 37 3 113699548 113699548 + Silent SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr3:113699548T>C uc003eax.2 - 14 2403 c.2256A>G c.(2254-2256)AAA>AAG p.K752K KIAA1407_uc011bin.1_RNA NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 752 ovary(2) 2 GCTCTAGACCTTTTTTCCTTA 0.408 NA 3 253 0 0 0 0 TET2 54790 broad.mit.edu 37 4 106158042 106158042 + Silent SNP T T A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr4:106158042T>A uc003hxk.2 + 3 3329 c.2943T>A c.(2941-2943)ATT>ATA p.I981I TET2_uc011cez.1_Silent_p.I1002I|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.I981I|TET2_uc003hxi.1_Silent_p.I981I NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 981 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ACAGGCCAATTAAGGTGGAAC 0.473 NA Mis N|F MDS 18 47 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187540779 187540779 + Nonsense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr4:187540779G>A uc003izf.2 - 10 7149 c.6961C>T c.(6961-6963)CAG>TAG p.Q2321* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2321 Extracellular (Potential).|Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCAAACATCTGGTATGAGATT 0.463 NA HNSCC(5;0.00058) 37 96 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13721156 13721156 + Missense_Mutation SNP C C A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr5:13721156C>A uc003jfd.2 - 71 12274 c.12232G>T c.(12232-12234)GGC>TGC p.G4078C DNAH5_uc003jfc.2_Missense_Mutation_p.G246C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4078 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ACTTCCTGGCCCTGGCCCATG 0.483 NA Kartagener_syndrome 17 116 5.01e-05 5.42e-05 1 0 MTMR12 54545 broad.mit.edu 37 5 32276834 32276834 + Missense_Mutation SNP G G T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr5:32276834G>T uc003jhq.2 - 2 266 c.96C>A c.(94-96)AAC>AAA p.N32K MTMR12_uc010iuk.2_Missense_Mutation_p.N32K|MTMR12_uc010iul.2_Missense_Mutation_p.N32K NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 32 cytoplasm phosphatase activity ovary(1) 1 CTTCCTTTTCGTTTGTGTGAA 0.343 NA 3 53 0.00909568 0.00952881 1 0 F2RL2 2151 broad.mit.edu 37 5 75914422 75914422 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr5:75914422A>G uc003kem.2 - 2 295 c.110T>C c.(109-111)ATT>ACT p.I37T IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.I15T NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 37 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AAAGGTCTTAATGGGTAAGGT 0.393 NA 3 118 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89941887 89941887 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr5:89941887G>A uc003kju.2 + 16 3097 c.3001G>A c.(3001-3003)GAT>AAT p.D1001N GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1001 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGAAGAAATGATGACCCCAT 0.308 NA 5 7 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150925423 150925423 + Silent SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr5:150925423A>G uc003lue.3 - 9 5278 c.5265T>C c.(5263-5265)GCT>GCC p.A1755A GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1755 Cadherin 15.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAACATAGGAGCATTGTCAT 0.403 NA 24 113 0 0 0 0 MAPK14 1432 broad.mit.edu 37 6 36070426 36070426 + Missense_Mutation SNP G G T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr6:36070426G>T uc003olp.2 + 10 1322 c.841G>T c.(841-843)GCT>TCT p.A281S MAPK14_uc003olo.2_Missense_Mutation_p.G281C|MAPK14_uc003olq.2_Missense_Mutation_p.A281S|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Missense_Mutation_p.A204S NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 281 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 CAATCCCCTGGGTAAGTTGAC 0.373 NA 23 75 3.67e-16 4.27e-16 1 0 DST 667 broad.mit.edu 37 6 56494141 56494141 + Missense_Mutation SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr6:56494141T>C uc003pdf.2 - 31 4311 c.4283A>G c.(4282-4284)TAT>TGT p.Y1428C DST_uc003pcz.3_Missense_Mutation_p.Y1250C|DST_uc011dxj.1_Missense_Mutation_p.Y1279C|DST_uc011dxk.1_Missense_Mutation_p.Y1290C|DST_uc003pcy.3_Missense_Mutation_p.Y924C|DST_uc003pdb.2_Missense_Mutation_p.Y924C|DST_uc003pdc.3_Missense_Mutation_p.Y924C|DST_uc003pdd.3_Missense_Mutation_p.Y924C NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1250 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCGTTCTTTATACGTTTTAAA 0.383 NA 31 67 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152831446 152831446 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr6:152831446C>T uc010kiw.2 - 8 1065 c.463G>A c.(463-465)GTG>ATG p.V155M SYNE1_uc003qot.3_Missense_Mutation_p.V162M|SYNE1_uc003qou.3_Missense_Mutation_p.V155M|SYNE1_uc010kjb.1_Missense_Mutation_p.V155M|SYNE1_uc003qpa.1_Missense_Mutation_p.V155M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 155 Actin-binding.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGCTGTCCACGGAGGATGCG 0.473 NA HNSCC(10;0.0054) 4 67 0 0 0 0 CNKSR3 154043 broad.mit.edu 37 6 154763230 154763230 + Nonsense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr6:154763230C>T uc003qpy.2 - 3 916 c.411G>A c.(409-411)TGG>TGA p.W137* NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 137 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) ACCGGTCCAGCCACGCCAGCA 0.562 NA 3 40 0 0 0 0 CCDC146 57639 broad.mit.edu 37 7 76909918 76909918 + Missense_Mutation SNP A A G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr7:76909918A>G uc003uga.2 + 14 1994 c.1867A>G c.(1867-1869)ATG>GTG p.M623V CCDC146_uc010ldp.2_Missense_Mutation_p.M337V|CCDC146_uc003ugc.2_5'Flank NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 623 Potential. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CGAAGAGGAGATGGTGCAGCT 0.408 NA 5 13 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100683015 100683015 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr7:100683015C>T uc003uxp.1 + 3 8371 c.8318C>T c.(8317-8319)ACA>ATA p.T2773I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2773 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACCGTTTCAACAACTGCTGTT 0.488 NA 63 368 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3265649 3265649 + Missense_Mutation SNP T T G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr8:3265649T>G uc011kwk.1 - 14 2236 c.1846A>C c.(1846-1848)ATC>CTC p.I616L CSMD1_uc011kwj.1_Missense_Mutation_p.I8L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 616 Extracellular (Potential).|CUB 4. integral to membrane p.E616K(4) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCTCCGAGATAATCAACCAG 0.403 NA 5 23 0 0 0 0 RP1L1 94137 broad.mit.edu 37 8 10466397 10466397 + Silent SNP C C A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr8:10466397C>A uc003wtc.2 - 4 5440 c.5211G>T c.(5209-5211)GGG>GGT p.G1737G NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1737 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCACTCCAGGCCCCTGGCTCA 0.657 NA 12 123 1.09e-07 1.21e-07 1 0 POTEA 340441 broad.mit.edu 37 8 43173712 43173712 + Silent SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr8:43173712C>T uc003xpz.1 + 9 1177 c.1134C>T c.(1132-1134)AGC>AGT p.S378S POTEA_uc003xqa.1_Silent_p.S332S NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 378 ovary(1) 1 AAAGAAAGAGCAGAAAGCATG 0.403 NA 11 71 0 0 0 0 SLC25A32 81034 broad.mit.edu 37 8 104415406 104415406 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr8:104415406G>A uc003yll.2 - 4 841 c.538C>T c.(538-540)CGT>TGT p.R180C SLC25A32_uc011lhr.1_Missense_Mutation_p.R48C NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 180 Solcar 2. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) TATAATCCACGCACACCTTCA 0.318 NA 3 27 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113347570 113347570 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr8:113347570G>A uc003ynu.2 - 45 7312 c.7153C>T c.(7153-7155)CTC>TTC p.L2385F CSMD3_uc003yns.2_Missense_Mutation_p.L1587F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2345F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2281F|CSMD3_uc003ynw.1_Missense_Mutation_p.L96F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2385 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGATAACTGAGCACAAAAAAG 0.343 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 28 0 0 0 0 TLE4 7091 broad.mit.edu 37 9 82320810 82320810 + Missense_Mutation SNP G G T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr9:82320810G>T uc004ald.2 + 10 1564 c.715G>T c.(715-717)GAT>TAT p.D239Y TLE4_uc004alc.2_Missense_Mutation_p.D246Y|TLE4_uc010mpr.2_Missense_Mutation_p.D125Y|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.D214Y|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.D185Y NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 GCAGGACAGCGATGGTGAGAA 0.398 NA 48 65 3.77e-20 4.4e-20 1 0 CDKL5 6792 broad.mit.edu 37 X 18593592 18593592 + Silent SNP G G C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:18593592G>C uc004cym.2 + 5 517 c.264G>C c.(262-264)GTG>GTC p.V88V CDKL5_uc004cyn.2_Silent_p.V88V NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 88 Protein kinase. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) TGTACTTGGTGTTTGAGTATG 0.378 NA 26 91 0 0 0 0 PDHA1 5160 broad.mit.edu 37 X 19377655 19377655 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:19377655G>A uc004czg.3 + 11 1202 c.1057G>A c.(1057-1059)GCC>ACC p.A353T PDHA1_uc004czh.3_Missense_Mutation_p.A388T|PDHA1_uc011mjc.1_Missense_Mutation_p.A357T|PDHA1_uc011mjd.1_Missense_Mutation_p.A319T|PDHA1_uc010nfk.2_Missense_Mutation_p.A291T|PDHA1_uc010nfl.2_Missense_Mutation_p.A144T NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 353 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) TGCCCAGTTTGCCACGGCCGA 0.473 NA 42 93 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31950341 31950341 + Silent SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:31950341T>C uc004dda.1 - 46 6862 c.6618A>G c.(6616-6618)CTA>CTG p.L2206L DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L862L|DMD_uc004dcx.2_Silent_p.L865L|DMD_uc004dcz.2_Silent_p.L2083L|DMD_uc004dcy.1_Silent_p.L2202L|DMD_uc004ddb.1_Silent_p.L2198L|DMD_uc010ngo.1_Silent_p.L115L|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2206 Spectrin 15. 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) TTTGTTCTTCTAGCCTGGAGA 0.303 NA 8 44 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50028249 50028249 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:50028249C>T uc004dox.3 + 3 384 c.86C>T c.(85-87)CCA>CTA p.P29L CCNB3_uc004doy.2_Missense_Mutation_p.P29L|CCNB3_uc004doz.2_Missense_Mutation_p.P29L|CCNB3_uc010njq.2_5'UTR NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 29 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CATCATGACCCATCTGAAAAG 0.458 NA 6 75 0 0 0 0 ITIH5L 347365 broad.mit.edu 37 X 54783977 54783977 + Missense_Mutation SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:54783977T>C uc004dtj.2 - 8 2560 c.2530A>G c.(2530-2532)ATC>GTC p.I844V NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 844 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GACAAGAGGATTCCAGGCCCC 0.507 NA 37 113 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63410937 63410937 + Missense_Mutation SNP C C G TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:63410937C>G uc004dvo.2 - 2 2503 c.2230G>C c.(2230-2232)GCC>CCC p.A744P NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 744 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GTAGGGTAGGCCCTCCTGGGA 0.502 NA 26 58 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79988994 79988994 + Missense_Mutation SNP T T C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:79988994T>C uc004edt.2 - 12 1351 c.1088A>G c.(1087-1089)GAT>GGT p.D363G BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D192G|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_Missense_Mutation_p.D33G|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Missense_Mutation_p.D33G|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_Missense_Mutation_p.D33G|BRWD3_uc004eea.2_Missense_Mutation_p.D33G|BRWD3_uc004eeb.2_5'UTR NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 363 WD 6. ovary(4) 4 AACAACTTTATCCTAAGACAT 0.299 NA 6 108 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133770 91133770 + Missense_Mutation SNP C C A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:91133770C>A uc004efk.1 + 2 3376 c.2531C>A c.(2530-2532)GCT>GAT p.A844D PCDH11X_uc004efl.1_Missense_Mutation_p.A844D|PCDH11X_uc004efo.1_Missense_Mutation_p.A844D|PCDH11X_uc010nmv.1_Missense_Mutation_p.A844D|PCDH11X_uc004efm.1_Missense_Mutation_p.A844D|PCDH11X_uc004efn.1_Missense_Mutation_p.A844D|PCDH11X_uc004efh.1_Missense_Mutation_p.A844D|PCDH11X_uc004efj.1_Missense_Mutation_p.A844D NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 844 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CACCTTAAGGCTGCTCAGAAA 0.403 NA 45 107 2.79e-13 3.22e-13 1 0 UPF3B 65109 broad.mit.edu 37 X 118985732 118985732 + Silent SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:118985732C>T uc004erz.1 - 2 338 c.261G>A c.(259-261)ACG>ACA p.T87T UPF3B_uc004esa.1_Silent_p.T87T NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 87 Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TTTTTTACCTCGTATCATTAG 0.318 NA 7 8 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123514615 123514615 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:123514615G>A uc004euj.2 - 31 8013 c.7949C>T c.(7948-7950)GCC>GTC p.A2650V ODZ1_uc011muj.1_Missense_Mutation_p.A2656V|ODZ1_uc010nqy.2_Missense_Mutation_p.A2657V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2650 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GCGCTGTCTGGCAATCTCCAA 0.542 NA 4 195 0 0 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218939 130218939 + Missense_Mutation SNP A A C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:130218939A>C uc004evz.2 + 7 1201 c.856A>C c.(856-858)AAT>CAT p.N286H ARHGAP36_uc004ewa.2_Missense_Mutation_p.N274H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.N255H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.N150H NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 286 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TGACAATCAGAATGTGCATGA 0.498 NA 63 268 0 0 0 0 ZIC3 7547 broad.mit.edu 37 X 136649736 136649736 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:136649736G>A uc004fak.2 + 1 1391 c.886G>A c.(886-888)GTC>ATC p.V296I NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 296 C2H2-type 2; atypical. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAACAACCACGTCTGCTACTG 0.612 NA 31 101 0 0 0 0 C1orf172 126695 broad.mit.edu 37 1 27278782 27278783 + Frame_Shift_Del DEL AT AT - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr1:27278782_27278783delAT uc001bni.1 - 2 178_179 c.89_90delAT c.(88-90)TATfs p.Y30fs NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 30 Pro-rich. large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GTGGTTTATCATATGTCTCCAG 0.629 NA 37 54 --- --- --- --- NA NA NA NA LZTS2 84445 broad.mit.edu 37 10 102763471 102763475 + Frame_Shift_Del DEL AGTGG AGTGG - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr10:102763471_102763475delAGTGG uc001ksj.2 + 3 685_689 c.616_620delAGTGG c.(616-621)AGTGGCfs p.S206fs LZTS2_uc010qpw.1_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksk.2_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksl.2_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 206_207 Ser-rich.|Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CCTGGCATTTAGTGGCTGGGCCAGT 0.551 NA 44 220 --- --- --- --- NA NA NA NA KIAA0247 9766 broad.mit.edu 37 14 70175480 70175481 + Frame_Shift_Ins INS - - T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr14:70175480_70175481insT uc001xlk.2 + 5 861_862 c.545_546insT c.(544-546)TATfs p.Y182fs KIAA0247_uc010aqz.2_Frame_Shift_Ins_p.Y157fs NM_014734 NP_055549 Q92537 K0247_HUMAN hypothetical protein LOC9766 precursor 182 Cytoplasmic (Potential). integral to membrane ovary(3) 3 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) GAGGCTGTATATGGCAGTTCTG 0.589 NA 63 78 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Frame_Shift_Del DEL G G - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr17:7574003delG uc002gim.2 - 10 1218 c.1024delC c.(1024-1026)CGAfs p.R342fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.R210fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.R342fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 342 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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) TTCAGCTCTCGGAACATCTCG 0.498 111 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) 22 36 --- --- --- --- NA NA NA NA ADAMTSL5 339366 broad.mit.edu 37 19 1507298 1507299 + Frame_Shift_Del DEL TG TG - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr19:1507298_1507299delTG uc002ltd.2 - 9 1238_1239 c.794_795delCA c.(793-795)ACAfs p.T265fs ADAMTSL5_uc010dsl.2_Frame_Shift_Del_p.T34fs|ADAMTSL5_uc010xgq.1_Frame_Shift_Del_p.T275fs NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 265 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGGGCCCTGTGTCTCGGGT 0.673 NA 11 75 --- --- --- --- NA NA NA NA UMODL1 89766 broad.mit.edu 37 21 43536021 43536025 + Frame_Shift_Del DEL GTCAG GTCAG - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr21:43536021_43536025delGTCAG uc002zaf.1 + 14 2401_2405 c.2401_2405delGTCAG c.(2401-2406)GTCAGGfs p.V801fs UMODL1_uc002zad.1_Frame_Shift_Del_p.V729fs|UMODL1_uc002zae.1_Frame_Shift_Del_p.V857fs|UMODL1_uc002zag.1_Frame_Shift_Del_p.V929fs NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 801_802 Extracellular (Potential).|SEA 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 AATCAAAAATGTCAGGTACTCAGAA 0.434 NA 14 88 --- --- --- --- NA NA NA NA MRPS30 10884 broad.mit.edu 37 5 44815046 44815046 + Frame_Shift_Del DEL T T - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr5:44815046delT uc003joh.2 + 5 1100 c.1062delT c.(1060-1062)CCTfs p.P354fs NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 354 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) TTACTCGACCTTTTGTCTCCC 0.373 NA 7 396 --- --- --- --- NA NA NA NA ITPR3 3710 broad.mit.edu 37 6 33636910 33636910 + Frame_Shift_Del DEL C C - rs138892441 TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr6:33636910delC uc011drk.1 + 18 2385 c.2166delC c.(2164-2166)GACfs p.D722fs NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 722 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 ACGCCCACGACGAGAATGTGC 0.607 NA 7 79 --- --- --- --- NA NA NA NA PMPCB 9512 broad.mit.edu 37 7 102952157 102952158 + Frame_Shift_Ins INS - - T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chr7:102952157_102952158insT uc003vbl.2 + 10 1256_1257 c.1222_1223insT c.(1222-1224)ATGfs p.M408fs PMPCB_uc003vbk.1_Frame_Shift_Ins_p.M408fs|PMPCB_uc003vbm.2_Frame_Shift_Ins_p.M317fs|PMPCB_uc010liv.2_Frame_Shift_Ins_p.M314fs|PMPCB_uc010liw.2_Intron|PMPCB_uc011kll.1_Frame_Shift_Ins_p.M303fs|PMPCB_uc011klm.1_Frame_Shift_Ins_p.M283fs NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 408 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 GAAAACAAACATGTTGTTGCAG 0.356 NA 7 33 --- --- --- --- NA NA NA NA SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e02f3646-a500-4781-ad44-2f62661a883d b9f8b4a2-7383-4f08-bd9d-8acb786f01c3 g.chrX:142605149delT uc004fbw.2 - 1 159 c.71delA c.(70-72)AATfs p.N24fs NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 24 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.239 NA 7 259 --- --- --- --- NA NA NA NA