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 ECE1 1889 broad.mit.edu 37 1 21599368 21599368 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:21599368G>A uc001bek.2 - 4 392 c.317C>T c.(316-318)TCA>TTA p.S106L ECE1_uc001bem.2_Missense_Mutation_p.S90L|ECE1_uc001bej.2_Missense_Mutation_p.S94L|ECE1_uc001bei.2_Missense_Mutation_p.S103L|ECE1_uc010odl.1_Missense_Mutation_p.S106L|ECE1_uc009vqa.1_Missense_Mutation_p.S106L NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 106 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GCTGGTCACTGAGACACAAGC 0.597 NA 10 80 0 0 0 0 MECR 51102 broad.mit.edu 37 1 29557401 29557401 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:29557401G>A uc001brq.1 - 1 54 c.18C>T c.(16-18)ACC>ACT p.T6T MECR_uc001brp.1_5'UTR|MECR_uc001brr.1_5'UTR|MECR_uc001brs.1_RNA|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Silent_p.T6T NM_016011 NP_057095 Q9BV79 MECR_HUMAN trans-2-enoyl-CoA reductase, mitochondrial 6 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding ovary(1) 1 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CCCGCCACAGGGTACTGCAGA 0.721 NA 3 27 0 0 0 0 ZMYM4 9202 broad.mit.edu 37 1 35859302 35859302 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:35859302C>T uc001byt.2 + 18 2953 c.2873C>T c.(2872-2874)TCT>TTT p.S958F ZMYM4_uc009vuu.2_Missense_Mutation_p.S926F|ZMYM4_uc001byu.2_Missense_Mutation_p.S634F|ZMYM4_uc009vuv.2_Missense_Mutation_p.S697F NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 958 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAAGCCACCTCTTGCAAACCA 0.398 NA 11 88 0 0 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43637162 43637162 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:43637162C>T uc001cin.2 - 3 508 c.311G>A c.(310-312)CGA>CAA p.R104Q EBNA1BP2_uc001cio.2_Missense_Mutation_p.R159Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'UTR|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.R159Q NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 104 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACTCATCTCTCGCTGGAAGTC 0.493 NA 15 126 0 0 0 0 UROD 7389 broad.mit.edu 37 1 45478996 45478996 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:45478996C>T uc001cna.1 + 4 354 c.246C>T c.(244-246)ATC>ATT p.I82I HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc010oli.1_Missense_Mutation_p.H108Y|UROD_uc001cnb.1_Silent_p.I47I|UROD_uc010olj.1_Intron|UROD_uc001cnc.1_5'UTR NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 82 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) ATGCTGCCATCATTTTCTCCG 0.483 NA Porphyria_Cutanea_Tarda_Type_II 37 130 0 0 0 0 KTI12 112970 broad.mit.edu 37 1 52499004 52499004 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:52499004C>T uc001ctj.1 - 1 469 c.430G>A c.(430-432)GCC>ACC p.A144T TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 144 ATP binding central_nervous_system(2) 2 GCCGCCTGGGCTCTCCCGTCC 0.672 NA 21 72 0 0 0 0 CLCA4 22802 broad.mit.edu 37 1 87012825 87012825 + Missense_Mutation SNP T T C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:87012825T>C uc009wcs.2 + 1 67 c.23T>C c.(22-24)GTT>GCT p.V8A CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 8 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AGAGGTTTTGTTTTCCTCTTA 0.363 NA 11 98 0 0 0 0 CCDC76 54482 broad.mit.edu 37 1 100606565 100606565 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:100606565C>T uc001dsv.2 + 7 678 c.659C>T c.(658-660)ACA>ATA p.T220I CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.T220I NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 220 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) AAGGTGACCACAAGATTCAAG 0.348 NA 6 41 0 0 0 0 AKNAD1 254268 broad.mit.edu 37 1 109366241 109366241 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:109366241C>T uc001dwa.2 - 12 2275 c.2006G>A c.(2005-2007)TGT>TAT p.C669Y AKNAD1_uc010ovb.1_Missense_Mutation_p.C376Y|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 669 ovary(3) 3 CTTAGTGCCACAGTCCTGACA 0.488 NA 10 55 0 0 0 0 DENND2D 79961 broad.mit.edu 37 1 111731345 111731345 + Nonsense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:111731345G>A uc001eak.1 - 10 1278 c.1078C>T c.(1078-1080)CAG>TAG p.Q360* DENND2D_uc001eal.1_Nonsense_Mutation_p.Q357* NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 360 ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTGATCCCCTGACCAAGAGAG 0.468 NA 8 207 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152187050 152187050 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:152187050G>A uc001ezt.1 - 3 7131 c.7055C>T c.(7054-7056)TCT>TTT p.S2352F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2352 25 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGTAACCAGAGGACTGCCA 0.567 NA 19 301 0 0 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202464747 202464747 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:202464747C>T uc001gya.1 + 17 2529 c.2385C>T c.(2383-2385)ATC>ATT p.I795I PPP1R12B_uc001gxz.1_Silent_p.I795I|PPP1R12B_uc001gyb.1_Silent_p.I21I|PPP1R12B_uc001gyc.1_Silent_p.I21I NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 795 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GGCTGTCCATCCGAGAGAGGA 0.463 NA 7 48 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216017746 216017746 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:216017746C>T uc001hku.1 - 46 9535 c.9148G>A c.(9148-9150)GTC>ATC p.V3050I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3050 Fibronectin type-III 17.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACTCAGTGACAACACCATTT 0.433 NA HNSCC(13;0.011) 7 61 0 0 0 0 MIA3 375056 broad.mit.edu 37 1 222801790 222801790 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:222801790G>A uc001hnl.2 + 4 1237 c.1228G>A c.(1228-1230)GAA>AAA p.E410K MIA3_uc009xea.1_Missense_Mutation_p.E246K NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 410 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TAGTTCAGAGGAAGAAAAAGA 0.408 NA 15 61 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235904814 235904814 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:235904814G>A uc001hxj.2 - 31 8441 c.8266C>T c.(8266-8268)CAC>TAC p.H2756Y LYST_uc009xga.1_Missense_Mutation_p.H392Y NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2756 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGTGCAGCGTGGGCTGGCGAC 0.438 NA Chediak-Higashi_syndrome 11 77 0 0 0 0 OR2L8 391190 broad.mit.edu 37 1 248112567 248112567 + Missense_Mutation SNP C C A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:248112567C>A uc001idt.1 + 1 408 c.408C>A c.(406-408)AGC>AGA p.S136R OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCCGCATGAGCAAAAGAGTGT 0.438 NA 5 239 0.000602214 0.000633634 1 0 OR2T6 254879 broad.mit.edu 37 1 248551586 248551586 + Missense_Mutation SNP A A C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:248551586A>C uc001iei.1 + 1 677 c.677A>C c.(676-678)CAT>CCT p.H226P NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCACAGTGCATCAGATGACA 0.502 NA 24 85 0 0 0 0 OR2T11 127077 broad.mit.edu 37 1 248790265 248790265 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr1:248790265G>A uc001ier.1 - 1 165 c.165C>T c.(163-165)CCC>CCT p.P55P NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAAGTACATGGGGGTGTGGA 0.468 NA 6 69 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316179 30316179 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr10:30316179G>A uc001iux.2 - 2 2957 c.2898C>T c.(2896-2898)GAC>GAT p.D966D KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.D828D|KIAA1462_uc009xle.1_Silent_p.D966D NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 966 ovary(4) 4 CTGCCAGCTCGTCCATTCCGT 0.567 NA 20 59 0 0 0 0 FAM13C 220965 broad.mit.edu 37 10 61022290 61022290 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr10:61022290G>A uc001jkn.2 - 11 1274 c.1140C>T c.(1138-1140)GGC>GGT p.G380G FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Silent_p.G297G|FAM13C_uc010qie.1_Silent_p.G297G|FAM13C_uc010qif.1_Silent_p.G402G|FAM13C_uc001jkp.2_Silent_p.G297G NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 380 ovary(2) 2 TTGGCTCCGGGCCCGCAGCTT 0.547 NA 7 64 0 0 0 0 ANKRD2 26287 broad.mit.edu 37 10 99340627 99340627 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr10:99340627C>T uc001knw.2 + 5 762 c.553C>T c.(553-555)CTG>TTG p.L185L ANKRD2_uc009xvu.2_Silent_p.L185L NM_020349 NP_065082 Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 isoform a 185 ANK 2. muscle contraction|muscle organ development structural constituent of muscle 0 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) TCGGACAGCACTGCACCGAGC 0.627 NA 3 9 0 0 0 0 GOT1 2805 broad.mit.edu 37 10 101190305 101190305 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr10:101190305G>A uc001kpr.2 - 1 226 c.18C>T c.(16-18)GTC>GTT p.V6V GOT1_uc009xwh.2_RNA|GOT1_uc009xwi.2_Silent_p.V6V NM_002079 NP_002070 P17174 AATC_HUMAN aspartate aminotransferase 1 6 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding 0 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCTCGGCAAAGACTGACGGAG 0.617 NA 13 93 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106899161 106899161 + Missense_Mutation SNP A A C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr10:106899161A>C uc001kyi.1 + 8 1446 c.1219A>C c.(1219-1221)ACT>CCT p.T407P NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 407 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTAGGTAACAACTAGTGGAAG 0.458 NA 10 91 0 0 0 0 WDR11 55717 broad.mit.edu 37 10 122668114 122668114 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr10:122668114G>A uc010qtf.1 + 29 3802 c.3564G>A c.(3562-3564)AAG>AAA p.K1188K WDR11_uc009xzn.2_3'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 1188 integral to membrane 0 GGAGTTTGAAGAACCTCGGTT 0.438 NA 5 89 0 0 0 0 ART1 417 broad.mit.edu 37 11 3681285 3681285 + Missense_Mutation SNP G G T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:3681285G>T uc001lye.1 + 3 637 c.536G>T c.(535-537)CGA>CTA p.R179L ART1_uc009yeb.1_Missense_Mutation_p.R179L NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 179 NAD (By similarity). protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) CAGGTGTTCCGAGGTGTGCAC 0.672 NA 14 18 4.38e-07 4.75e-07 1 0 MS4A4A 51338 broad.mit.edu 37 11 60059779 60059779 + Silent SNP A A T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:60059779A>T uc001noz.2 + 2 133 c.123A>T c.(121-123)GGA>GGT p.G41G MS4A4A_uc001npa.2_Silent_p.G22G|MS4A4A_uc001npb.2_Silent_p.G22G|MS4A4A_uc001npc.2_Silent_p.G22G NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 41 Cytoplasmic (Potential). integral to membrane receptor activity 0 CCCAGCTGGGAAACATGGCTG 0.488 NA 12 64 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62294494 62294494 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:62294494G>A uc001ntl.2 - 5 7695 c.7395C>T c.(7393-7395)CCC>CCT p.P2465P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2465 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTTGATTTTGGGTCCTTTGA 0.443 NA 23 216 0 0 0 0 ADRBK1 156 broad.mit.edu 37 11 67052618 67052618 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:67052618C>T uc009yrn.1 + 20 2130 c.1864C>T c.(1864-1866)CTC>TTC p.L622F ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 622 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GTGCCTGCTCCTCAAGATCCG 0.647 NA 21 303 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70332040 70332040 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:70332040G>A uc001oqc.2 - 21 4436 c.4358C>T c.(4357-4359)TCC>TTC p.S1453F SHANK2_uc010rqn.1_Missense_Mutation_p.S865F|SHANK2_uc001opz.2_Missense_Mutation_p.S858F|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1074 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGGTTGGCTGGAGTTCAACGA 0.547 NA 8 297 0 0 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276860 71276860 + Missense_Mutation SNP C C G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:71276860C>G uc001oqt.1 + 1 252 c.227C>G c.(226-228)TCT>TGT p.S76C NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 76 7 X 4 AA repeats of C-C-X-P. keratin filament skin(1) 1 GACTGTGGCTCTTGTGGGGGC 0.677 NA 94 273 0 0 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277239 71277239 + Missense_Mutation SNP C C G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:71277239C>G uc001oqt.1 + 1 631 c.606C>G c.(604-606)ATC>ATG p.I202M NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 202 keratin filament skin(1) 1 AGTGTAAGATCTGAGGCTCTG 0.313 NA 86 136 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92624271 92624271 + Nonsense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:92624271C>T uc001pdj.3 + 25 13683 c.13666C>T c.(13666-13668)CAA>TAA p.Q4556* FAT3_uc001pdi.3_Nonsense_Mutation_p.Q1028* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4588 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCATCAGACTCAAGTGTAGAC 0.507 NA TCGA Ovarian(4;0.039) 11 16 0 0 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110036199 110036199 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:110036199G>A uc009yxw.2 + 6 2440 c.2389G>A c.(2389-2391)GAT>AAT p.D797N ZC3H12C_uc010rwc.1_Missense_Mutation_p.D798N|ZC3H12C_uc010rwd.1_Missense_Mutation_p.D798N|ZC3H12C_uc001pkr.3_Missense_Mutation_p.D766N NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 797 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTCCTTGCCCGATAACTCCAC 0.572 NA 3 40 0 0 0 0 NTM 50863 broad.mit.edu 37 11 132081943 132081943 + Nonsense_Mutation SNP C C G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:132081943C>G uc001qgp.2 + 3 1092 c.428C>G c.(427-429)TCA>TGA p.S143* NTM_uc001qgm.2_Nonsense_Mutation_p.S143*|NTM_uc010sch.1_Nonsense_Mutation_p.S134*|NTM_uc010sci.1_Nonsense_Mutation_p.S143*|NTM_uc010scj.1_Nonsense_Mutation_p.S102*|NTM_uc001qgo.2_Nonsense_Mutation_p.S143*|NTM_uc001qgq.2_Nonsense_Mutation_p.S143*|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 143 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GAGATTTCTTCAGATATCTCC 0.393 NA 7 59 0 0 0 0 WBP11 51729 broad.mit.edu 37 12 14949890 14949890 + Missense_Mutation SNP C C G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:14949890C>G uc001rci.2 - 5 399 c.238G>C c.(238-240)GAC>CAC p.D80H NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 80 Potential. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 TTACGCTTGTCTTTCAGTACT 0.343 NA 27 36 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20799470 20799470 + Silent SNP T T C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:20799470T>C uc001reh.1 + 11 2320 c.2298T>C c.(2296-2298)TAT>TAC p.Y766Y NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 766 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTGTTTGGTATCTTACTACAC 0.413 NA 12 51 0 0 0 0 YARS2 51067 broad.mit.edu 37 12 32900172 32900172 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:32900172C>T uc001rli.2 - 5 1466 c.1400G>A c.(1399-1401)AGA>AAA p.R467K NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 467 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) GTAGAAATTTCTTTTTCCTAT 0.338 NA 19 30 0 0 0 0 KIF21A 55605 broad.mit.edu 37 12 39726145 39726145 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:39726145C>T uc001rly.2 - 21 3068 c.2922G>A c.(2920-2922)GAG>GAA p.E974E KIF21A_uc001rlv.2_5'UTR|KIF21A_uc001rlw.2_Silent_p.E291E|KIF21A_uc001rlx.2_Silent_p.E961E|KIF21A_uc001rlz.2_Silent_p.E938E|KIF21A_uc010skl.1_Silent_p.E961E NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 974 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CCTCTCCATTCTCCTTGACTA 0.373 NA 12 149 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40651163 40651163 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:40651163C>T uc001rmg.3 + 12 1523 c.1402C>T c.(1402-1404)CAT>TAT p.H468Y LRRK2_uc001rmh.1_Missense_Mutation_p.H90Y NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 468 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AATGCTAAATCATCTTTTTGA 0.318 NA 13 120 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49434415 49434415 + Nonsense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:49434415G>A uc001rta.3 - 31 7138 c.7138C>T c.(7138-7140)CAG>TAG p.Q2380* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2380 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AATGGGGGCTGAGCATATGGG 0.652 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 37 0 0 0 0 KRR1 11103 broad.mit.edu 37 12 75905362 75905362 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:75905362G>A uc001sxt.2 - 1 57 c.16C>T c.(16-18)CTG>TTG p.L6L KRR1_uc009zsc.2_Silent_p.L6L|KRR1_uc010stx.1_Silent_p.L6L NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 6 rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 GGCCGCTCCAGCGAGGGAGAC 0.527 NA 6 69 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81839428 81839428 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:81839428C>T uc001szo.1 - 6 638 c.477G>A c.(475-477)CGG>CGA p.R159R PPFIA2_uc010sue.1_Silent_p.R59R|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 85 ovary(3)|lung(2)|pancreas(1) 6 ACTGGGCTTGCCGTTTTACCA 0.428 NA 3 48 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104067821 104067821 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:104067821C>T uc001tjw.2 + 23 2694 c.2508C>T c.(2506-2508)TTC>TTT p.F836F NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 836 Extracellular (Potential).|EGF-like 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACGTGCAGTTCTGTCACATCC 0.562 NA 23 53 0 0 0 0 USP30 84749 broad.mit.edu 37 12 109522853 109522853 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:109522853C>T uc010sxi.1 + 12 1368 c.1264C>T c.(1264-1266)CCT>TCT p.P422S USP30_uc001tnu.3_Missense_Mutation_p.P391S|USP30_uc001tnw.3_Missense_Mutation_p.P139S NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 422 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 GATGCCCTTCCCTCTCCCAGT 0.502 NA 29 283 0 0 0 0 GPR81 27198 broad.mit.edu 37 12 123214555 123214555 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr12:123214555G>A uc001ucz.2 - 1 575 c.332C>T c.(331-333)GCG>GTG p.A111V GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 111 Cytoplasmic (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) ATACCTGTCCGCAGCCACCAC 0.622 NA 6 41 0 0 0 0 TRPC4 7223 broad.mit.edu 37 13 38357421 38357421 + Missense_Mutation SNP C C T rs75129764 byFrequency TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr13:38357421C>T uc001uws.2 - 2 285 c.50G>A c.(49-51)CGC>CAC p.R17H TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.R17H|TRPC4_uc010tey.1_Missense_Mutation_p.R17H|TRPC4_uc010abw.2_Missense_Mutation_p.R17H|TRPC4_uc010abx.2_Missense_Mutation_p.R17H|TRPC4_uc010aby.2_Missense_Mutation_p.R17H NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 17 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TAGAGGGATGCGGTCTCTATA 0.398 NA 4 125 0 0 0 0 FNDC3A 22862 broad.mit.edu 37 13 49742771 49742771 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr13:49742771A>G uc001vcm.2 + 10 1365 c.1060A>G c.(1060-1062)ATA>GTA p.I354V FNDC3A_uc001vcn.2_Missense_Mutation_p.I354V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.I298V|FNDC3A_uc001vcq.2_Missense_Mutation_p.I298V NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 354 Fibronectin type-III 1. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ATATAATTCTATAAAGGGAAC 0.368 NA 24 56 0 0 0 0 SLC35F4 341880 broad.mit.edu 37 14 58056063 58056063 + Missense_Mutation SNP T T C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr14:58056063T>C uc001xdb.1 - 3 566 c.566A>G c.(565-567)TAT>TGT p.Y189C SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.Y30C NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 GAAGTTCTTATAAGTAATTTT 0.393 NA 18 32 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33916108 33916108 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr15:33916108A>G uc001zhi.2 + 20 2528 c.2458A>G c.(2458-2460)AGA>GGA p.R820G RYR3_uc010bar.2_Missense_Mutation_p.R820G NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 820 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGAGAAGATGAGATTGGAGCC 0.488 NA 24 95 0 0 0 0 SLC12A6 9990 broad.mit.edu 37 15 34526146 34526146 + Missense_Mutation SNP T T A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr15:34526146T>A uc001zhw.2 - 25 3553 c.3389A>T c.(3388-3390)GAG>GTG p.E1130V SLC12A6_uc001zhv.2_Missense_Mutation_p.E1079V|SLC12A6_uc001zhx.2_Missense_Mutation_p.E1115V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.E1071V|SLC12A6_uc001zib.2_Missense_Mutation_p.E1121V|SLC12A6_uc001zic.2_Missense_Mutation_p.E1130V|SLC12A6_uc010bau.2_Missense_Mutation_p.E1130V|SLC12A6_uc001zid.2_Missense_Mutation_p.E1071V|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.E942V NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 1130 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTCTAGTCCCTCGGTAAGCAC 0.453 NA 10 59 0 0 0 0 DUOX1 53905 broad.mit.edu 37 15 45445673 45445673 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr15:45445673G>A uc001zus.1 + 27 3866 c.3520G>A c.(3520-3522)GAT>AAT p.D1174N DUOX1_uc001zut.1_Missense_Mutation_p.D1174N|DUOX1_uc010bee.1_Missense_Mutation_p.D554N NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1174 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTTCCATGATGATGGGTGAGT 0.378 NA 18 106 0 0 0 0 NTN3 4917 broad.mit.edu 37 16 2522266 2522266 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr16:2522266C>T uc002cqj.2 + 1 767 c.564C>T c.(562-564)AGC>AGT p.S188S TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank NM_006181 NP_006172 O00634 NET3_HUMAN netrin 3 precursor 188 Laminin N-terminal. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix central_nervous_system(1) 1 CTGATGGCAGCGGCCTTCTGG 0.697 NA 5 16 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3786770 3786770 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr16:3786770C>T uc002cvv.2 - 27 4645 c.4441G>A c.(4441-4443)GAT>AAT p.D1481N CREBBP_uc002cvw.2_Missense_Mutation_p.D1443N NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1481 Cys/His-rich.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AAGATGTAATCATCTCCTTCA 0.527 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 28 133 0 0 0 0 SETD1A 9739 broad.mit.edu 37 16 30977192 30977192 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr16:30977192G>A uc002ead.1 + 8 2676 c.1990G>A c.(1990-1992)GAG>AAG p.E664K NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 GAACTCCTTGGAGCTCATGGA 0.622 NA 10 89 0 0 0 0 ACD 65057 broad.mit.edu 37 16 67692699 67692699 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr16:67692699G>A uc002etq.3 - 8 1261 c.924C>T c.(922-924)GTC>GTT p.V308V ACD_uc002etp.3_Silent_p.V305V|ACD_uc002etr.3_Silent_p.V305V|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 308 Interaction with POT1. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TTGAGCTGGGGACAGTGTACA 0.552 NA 9 51 0 0 0 0 RANBP10 57610 broad.mit.edu 37 16 67778207 67778207 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr16:67778207C>T uc002eud.2 - 4 668 c.552G>A c.(550-552)AAG>AAA p.K184K RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Intron|RANBP10_uc010vjv.1_Silent_p.K67K|RANBP10_uc010vjx.1_Silent_p.K184K|RANBP10_uc010vjy.1_Silent_p.K52K NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 184 B30.2/SPRY. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) TGTGGCCATTCTTGGTGTAGA 0.582 NA 6 70 0 0 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840605 1840605 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:1840605C>T uc002ftp.2 - 2 530 c.511G>A c.(511-513)GAC>AAC p.D171N NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 precursor 171 LRR 5. axon regeneration anchored to plasma membrane receptor activity 0 TTGACCAGGTCCACGAAGATG 0.627 NA 7 44 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:7578394T>C uc002gim.2 - 5 730 c.536A>G c.(535-537)CAT>CGT p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642 111 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) 24 41 0 0 0 0 TP53I13 90313 broad.mit.edu 37 17 27896356 27896356 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:27896356C>T uc002hee.2 + 3 200 c.162C>T c.(160-162)TAC>TAT p.Y54Y ABHD15_uc002hed.1_5'Flank NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 54 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane 0 READ - Rectum adenocarcinoma(3;0.236) GAGTGACCTACACACGAGTGA 0.622 NA 5 29 0 0 0 0 TADA2A 6871 broad.mit.edu 37 17 35825582 35825582 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:35825582A>G uc002hnt.2 + 11 917 c.760A>G c.(760-762)ATG>GTG p.M254V TADA2A_uc002hnu.1_Missense_Mutation_p.M254V|TADA2A_uc002hnv.2_Missense_Mutation_p.M254V|TADA2A_uc002hnw.2_Missense_Mutation_p.M153V|TADA2A_uc010cvb.2_Missense_Mutation_p.M50V NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 254 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 GTATGAAACAATGAGGCGATT 0.433 NA 37 103 0 0 0 0 TNS4 84951 broad.mit.edu 37 17 38638646 38638646 + Silent SNP G G T rs147623676 byFrequency TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:38638646G>T uc010cxb.2 - 7 1688 c.1524C>A c.(1522-1524)ATC>ATA p.I508I TNS4_uc002huu.3_5'Flank NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 508 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GGAAGTGTCGGATGAGGTCAT 0.453 NA 11 59 7.04e-09 7.67e-09 1 0 KCNH4 23415 broad.mit.edu 37 17 40327728 40327728 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:40327728A>G uc002hzb.2 - 6 1189 c.856T>C c.(856-858)TAT>CAT p.Y286H NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 286 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TGGGACACATAGGTGGTGCGG 0.552 NA 3 139 0 0 0 0 MPP2 4355 broad.mit.edu 37 17 41956730 41956730 + Silent SNP C C A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:41956730C>A uc010wip.1 - 12 1587 c.1530G>T c.(1528-1530)GTG>GTT p.V510V MPP2_uc002ien.1_Silent_p.V482V|MPP2_uc010wim.1_Silent_p.V454V|MPP2_uc002ieo.1_Silent_p.V465V|MPP2_uc010win.1_Silent_p.V326V|MPP2_uc010wio.1_Silent_p.V454V NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 489 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CGATGAACACCACGTAAGGGA 0.582 NA 18 78 5.39e-06 5.77e-06 1 0 EPN3 55040 broad.mit.edu 37 17 48618855 48618855 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:48618855G>A uc002ira.3 + 9 1820 c.1385G>A c.(1384-1386)AGT>AAT p.S462N SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S490N|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S435N NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 462 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCCAGCCCCAGTTCCAAGCAA 0.577 NA 6 50 0 0 0 0 ACE 1636 broad.mit.edu 37 17 61561867 61561867 + Missense_Mutation SNP A A C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:61561867A>C uc002jau.1 + 12 1908 c.1886A>C c.(1885-1887)CAC>CCC p.H629P ACE_uc010ddu.1_Missense_Mutation_p.H446P|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 629 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TACCAGTGGCACCCGCCGTTG 0.642 NA 4 13 0 0 0 0 TEX2 55852 broad.mit.edu 37 17 62291153 62291153 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr17:62291153C>T uc002jec.2 - 2 598 c.425G>A c.(424-426)GGG>GAG p.G142E TEX2_uc002jed.2_Missense_Mutation_p.G142E|TEX2_uc002jee.2_Missense_Mutation_p.G142E NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 142 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AGCTAAGGGCCCCGACGAAGA 0.527 NA 11 109 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397374 5397375 + Missense_Mutation DNP GC GC CA TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr18:5397374_5397375GC>CA uc002kmt.1 - 18 2609_2610 c.2523_2524GC>TG c.(2521-2526)GTGCAC>GTTGAC p.H842D EPB41L3_uc010wzh.1_Missense_Mutation_p.H673D|EPB41L3_uc002kmu.1_Missense_Mutation_p.H620D|EPB41L3_uc010dkq.1_Missense_Mutation_p.H511D|EPB41L3_uc002kms.1_Missense_Mutation_p.H77D|EPB41L3_uc010wze.1_Missense_Mutation_p.H147D|EPB41L3_uc010wzf.1_Missense_Mutation_p.H139D|EPB41L3_uc010wzg.1_Missense_Mutation_p.H114D|EPB41L3_uc010dkr.2_Missense_Mutation_p.H234D NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 842 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GGCAGGTGGTGCACGGTGGGTT 0.569 NA 14 52 0 0 0 0 PSMA8 143471 broad.mit.edu 37 18 23772346 23772346 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr18:23772346G>A uc002kvq.2 + 7 856 c.742G>A c.(742-744)GAG>AAG p.E248K PSMA8_uc002kvo.2_Missense_Mutation_p.E204K|PSMA8_uc002kvp.2_Missense_Mutation_p.E242K|PSMA8_uc002kvr.2_Missense_Mutation_p.E216K NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 248 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GGAAGAAGCAGAGAAGAAAAA 0.303 NA 9 47 0 0 0 0 POLI 11201 broad.mit.edu 37 18 51820401 51820401 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr18:51820401C>T uc002lfj.3 + 10 1855 c.1787C>T c.(1786-1788)TCT>TTT p.S596F POLI_uc010xds.1_Missense_Mutation_p.S517F|POLI_uc002lfk.3_Missense_Mutation_p.S493F|POLI_uc010dpg.2_Missense_Mutation_p.S192F NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 596 Ser-rich. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) CAGGTATCCTCTGTATCTCCT 0.338 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 20 56 0 0 0 0 ZADH2 284273 broad.mit.edu 37 18 72914175 72914175 + Silent SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr18:72914175A>G uc002llx.2 - 2 598 c.330T>C c.(328-330)TCT>TCC p.S110S ZADH2_uc010dqv.2_5'UTR NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 110 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TGGCACTAGCAGAGAGGCCTA 0.537 NA 12 108 0 0 0 0 EMR1 2015 broad.mit.edu 37 19 6919744 6919744 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:6919744C>T uc002mfw.2 + 13 1644 c.1606C>T c.(1606-1608)CTG>TTG p.L536L EMR1_uc010dvc.2_Silent_p.L536L|EMR1_uc010dvb.2_Silent_p.L484L|EMR1_uc010xji.1_Silent_p.L395L|EMR1_uc010xjj.1_Silent_p.L359L NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 536 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CATCTACACTCTGGAGAACAT 0.458 NA 7 61 0 0 0 0 ATG4D 84971 broad.mit.edu 37 19 10663623 10663623 + Silent SNP T T A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:10663623T>A uc002mov.2 + 10 1425 c.1305T>A c.(1303-1305)GCT>GCA p.A435A ATG4D_uc010xlh.1_Silent_p.A372A|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Silent_p.A102A NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 435 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AGGGCCATGCTCAGGACCACA 0.672 NA 13 61 0 0 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707912 14707912 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:14707912C>T uc010dzn.1 + 10 662 c.585C>T c.(583-585)TAC>TAT p.Y195Y CLEC17A_uc002mzh.1_Silent_p.Y178Y|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Silent_p.Y195Y|CLEC17A_uc010dzo.1_Silent_p.Y195Y Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 195 Extracellular (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 TCTTCATAGACCAGGAGTTGA 0.493 NA 3 18 0 0 0 0 OR7A17 26333 broad.mit.edu 37 19 14991892 14991892 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:14991892G>A uc010xob.1 - 1 276 c.276C>T c.(274-276)ATC>ATT p.I92I NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) CTGCATAGGTGATGACTCTGC 0.468 NA 15 77 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057903 17057903 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:17057903C>T uc002nfb.2 - 21 2816 c.2784G>A c.(2782-2784)CTG>CTA p.L928L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 881 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TGTTGAGTCCCAGGTCGCTGA 0.592 NA 11 78 0 0 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376204 18376204 + Missense_Mutation SNP T T A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:18376204T>A uc002nin.2 - 3 2362 c.2146A>T c.(2146-2148)ATG>TTG p.M716L KIAA1683_uc010ebn.2_Missense_Mutation_p.M716L|KIAA1683_uc010xqe.1_Missense_Mutation_p.M670L NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 716 mitochondrion ovary(2) 2 TGGGAATGCATCTTGCTCAGA 0.627 NA 8 54 0 0 0 0 ZNF90 7643 broad.mit.edu 37 19 20229657 20229657 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:20229657A>G uc002nor.2 + 4 1433 c.1294A>G c.(1294-1296)AAA>GAA p.K432E ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN zinc finger protein 90 432 C2H2-type 10. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AGAATGTGACAAAGTCTTCAA 0.413 NA 3 13 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31039805 31039805 + Silent SNP C C T rs147863190 TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:31039805C>T uc002nsu.1 + 4 3417 c.3279C>T c.(3277-3279)AGC>AGT p.S1093S ZNF536_uc010edd.1_Silent_p.S1093S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1093 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AGCAGAAGAGCGGTGCATGGA 0.537 NA 11 39 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 7 18 0 0 0 0 TNNT1 7138 broad.mit.edu 37 19 55652591 55652591 + Missense_Mutation SNP T T G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr19:55652591T>G uc002qjb.3 - 8 361 c.272A>C c.(271-273)AAG>ACG p.K91T TNNT1_uc002qiz.3_Missense_Mutation_p.K21T|TNNT1_uc002qja.3_Missense_Mutation_p.K21T|TNNT1_uc002qjc.3_Missense_Mutation_p.K91T|TNNT1_uc002qje.3_Missense_Mutation_p.K80T|TNNT1_uc002qjd.3_Missense_Mutation_p.K80T|TNNT1_uc002qjf.2_Missense_Mutation_p.K87T NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 91 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CTCTTCCTCCTTCTTCCGCTG 0.592 NA OREG0025677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 50 0 0 0 0 MBOAT2 129642 broad.mit.edu 37 2 9008678 9008678 + Silent SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:9008678A>G uc002qzg.1 - 9 1018 c.885T>C c.(883-885)GCT>GCC p.A295A MBOAT2_uc010yix.1_Silent_p.A295A NM_138799 NP_620154 Q6ZWT7 MBOA2_HUMAN O-acyltransferase (membrane bound) domain 295 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TAATGGCATCAGCTATAGAAA 0.333 NA 3 96 0 0 0 0 OTOF 9381 broad.mit.edu 37 2 26750743 26750743 + Missense_Mutation SNP G G C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:26750743G>C uc002rhk.2 - 3 311 c.184C>G c.(184-186)CTG>GTG p.L62V NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 62 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAATCTCCAGCATCTCATTT 0.577 NA 11 79 0 0 0 0 FAM98A 25940 broad.mit.edu 37 2 33810258 33810258 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:33810258C>T uc002rpa.1 - 8 1216 c.1142G>A c.(1141-1143)GGA>GAA p.G381E FAM98A_uc010yne.1_Missense_Mutation_p.G186E|FAM98A_uc010ynd.1_Missense_Mutation_p.G212E|FAM98A_uc002roz.1_Missense_Mutation_p.G219E NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 382 Gly-rich. ovary(1) 1 all_hematologic(175;0.115) TGTCCAGCCTCCTTGATGCTT 0.577 NA 6 97 0 0 0 0 MAP4K3 8491 broad.mit.edu 37 2 39485697 39485697 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:39485697G>A uc002rro.2 - 30 2431 c.2340C>T c.(2338-2340)ACC>ACT p.T780T MAP4K3_uc002rrp.2_Silent_p.T759T|MAP4K3_uc010yns.1_Silent_p.T333T NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 780 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TCTCCAGTTGGGTTACATGAG 0.328 NA 7 40 0 0 0 0 TTC7A 57217 broad.mit.edu 37 2 47300993 47300993 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:47300993C>T uc002rvo.2 + 20 2876 c.2508C>T c.(2506-2508)TTC>TTT p.F836F TTC7A_uc002rvm.2_Silent_p.F802F|TTC7A_uc010fbb.2_Silent_p.F860F|TTC7A_uc010fbc.2_Silent_p.F482F|TTC7A_uc002rvp.2_Silent_p.F717F|C2orf61_uc010fbd.2_Intron|TTC7A_uc002rvq.2_Silent_p.F576F|TTC7A_uc002rvr.2_Silent_p.F285F NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 836 TPR 9. binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TTGACTGCTTCCTCACCGCCC 0.677 NA 10 24 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50280535 50280535 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:50280535C>T uc010fbp.2 - 4 1614 c.807G>A c.(805-807)ATG>ATA p.M269I NRXN1_uc002rxb.3_Missense_Mutation_p.M1006I|NRXN1_uc010fbq.2_Missense_Mutation_p.M1374I|NRXN1_uc002rxe.3_Missense_Mutation_p.M1304I NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 269 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACTCAGTTGTCATAGAGGAAG 0.483 NA 11 102 0 0 0 0 BMP10 27302 broad.mit.edu 37 2 69092867 69092867 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:69092867G>A uc002sez.1 - 2 1330 c.1171C>T c.(1171-1173)CCC>TCC p.P391S NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 391 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 AGCTTTGTGGGCACACAGCAG 0.512 NA 4 153 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97866192 97866192 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:97866192C>T uc010yva.1 + 46 3031 c.2787C>T c.(2785-2787)GCC>GCT p.A929A ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 929 0 CCATTCAGGCCACAAGTGATG 0.333 NA 4 36 0 0 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275416 98275416 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:98275416C>T uc002syb.2 - 5 574 c.366G>A c.(364-366)GAG>GAA p.E122E NM_005735 NP_005726 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, 122 centrosome|dynactin complex ATP binding|protein binding skin(1) 1 CTGCCGCCTTCTCCCGGTTCT 0.607 NA 25 348 0 0 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608479 112608479 + Missense_Mutation SNP C C A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:112608479C>A uc002thi.2 - 14 1771 c.1524G>T c.(1522-1524)AAG>AAT p.K508N NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 508 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GAATAAAAACCTTTCCCACCT 0.378 NA 4 20 5.94e-07 6.42e-07 1 0 YSK4 80122 broad.mit.edu 37 2 135744631 135744631 + Missense_Mutation SNP T T A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:135744631T>A uc002tue.1 - 7 1842 c.1811A>T c.(1810-1812)CAC>CTC p.H604L YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.H491L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.H332L|YSK4_uc002tui.3_Missense_Mutation_p.H621L NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 604 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CTGAGTCCGGTGAGTTGATTG 0.453 NA 28 132 0 0 0 0 MARCH7 64844 broad.mit.edu 37 2 160599714 160599714 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:160599714G>A uc002uax.2 + 3 418 c.296G>A c.(295-297)TGT>TAT p.C99Y MARCH7_uc010foq.2_Missense_Mutation_p.C99Y|MARCH7_uc010zcn.1_Missense_Mutation_p.C99Y|MARCH7_uc010for.2_Missense_Mutation_p.C61Y NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 99 Ser-rich. ligase activity|zinc ion binding 0 TGTACAAACTGTACTACCTCA 0.403 NA 10 56 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167133711 167133711 + Missense_Mutation SNP G G T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:167133711G>T uc010fpl.2 - 16 2964 c.2623C>A c.(2623-2625)CAG>AAG p.Q875K uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 886 II.|Helical; Name=S5 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CCAAAGAGCTGCATGCCGACC 0.468 NA 11 115 5.01e-05 5.32e-05 1 0 AOX1 316 broad.mit.edu 37 2 201507512 201507512 + Silent SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:201507512A>G uc002uvx.2 + 25 2936 c.2835A>G c.(2833-2835)CTA>CTG p.L945L AOX1_uc010zhf.1_Silent_p.L501L|AOX1_uc010fsu.2_Silent_p.L311L NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 945 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AATGTGGACTATCCCCTGAGA 0.343 NA 9 59 0 0 0 0 C20orf103 24141 broad.mit.edu 37 20 9496129 9496129 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr20:9496129G>A uc002wni.1 + 2 323 c.94G>A c.(94-96)GAA>AAA p.E32K C20orf103_uc010zrc.1_Missense_Mutation_p.E32K NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 32 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) GGCAGAACAAGAAGTGGAAAA 0.498 NA 8 44 0 0 0 0 SEC23B 10483 broad.mit.edu 37 20 18529385 18529385 + Missense_Mutation SNP T T A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr20:18529385T>A uc002wqz.1 + 16 2319 c.1876T>A c.(1876-1878)TAC>AAC p.Y626N SEC23B_uc002wra.1_Missense_Mutation_p.Y626N|SEC23B_uc002wrb.1_Missense_Mutation_p.Y626N|SEC23B_uc010zsb.1_Missense_Mutation_p.Y608N|SEC23B_uc002wrc.1_Missense_Mutation_p.Y626N NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 626 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 GCCCATTCTCTACTCTTACTC 0.438 NA 14 52 0 0 0 0 BRWD1 54014 broad.mit.edu 37 21 40604128 40604128 + Missense_Mutation SNP T T A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr21:40604128T>A uc002yxk.1 - 25 3114 c.2975A>T c.(2974-2976)GAG>GTG p.E992V BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.E992V|BRWD1_uc010god.1_5'Flank NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 992 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCTCCATGGCTCCTTATTAGG 0.299 NA 15 39 0 0 0 0 MTP18 51537 broad.mit.edu 37 22 30824464 30824464 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr22:30824464C>T uc003ahw.1 + 4 592 c.444C>T c.(442-444)CTC>CTT p.L148L SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Missense_Mutation_p.S59F|MTP18_uc003ahv.1_Silent_p.L310L|MTP18_uc010gvy.1_Missense_Mutation_p.S51F|MTP18_uc003ahx.1_Missense_Mutation_p.P71S NM_016498 NP_057582 Q9UDX5 MTFP1_HUMAN mitochondrial protein 18 kDa isoform a 148 Helical; (Potential). apoptosis|carbon utilization integral to membrane|mitochondrial inner membrane carbonate dehydratase activity|zinc ion binding 0 TGGATTTCCTCCTGGACTCCA 0.587 NA 10 35 0 0 0 0 ZNF501 115560 broad.mit.edu 37 3 44776296 44776296 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr3:44776296A>G uc003cnu.1 + 3 784 c.383A>G c.(382-384)CAT>CGT p.H128R ZNF501_uc003cnv.1_Missense_Mutation_p.H128R NM_145044 NP_659481 Q96CX3 ZN501_HUMAN zinc finger protein 501 128 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) CAGCGAATTCATACTGGAGAG 0.408 NA 18 33 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49689519 49689519 + Nonsense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr3:49689519C>T uc003cxe.3 + 5 2644 c.2530C>T c.(2530-2532)CGA>TGA p.R844* NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 844 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGATTTCATGCGACGGCAGAT 0.622 NA 12 24 0 0 0 0 DCP1A 55802 broad.mit.edu 37 3 53381537 53381537 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr3:53381537G>A uc003dgs.3 - 1 101 c.8C>T c.(7-9)GCG>GTG p.A3V DCP1A_uc003dgt.3_RNA NM_018403 NP_060873 Q9NPI6 DCP1A_HUMAN DCP1 decapping enzyme homolog A 3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) TCGACTCAGCGCCTCCATCTT 0.622 NA 7 44 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121206399 121206399 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr3:121206399G>A uc003eee.3 - 16 5508 c.5379C>T c.(5377-5379)TTC>TTT p.F1793F POLQ_uc003eed.2_Silent_p.F965F NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1793 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGTTGTCTTTGAACCCATTTC 0.378 NA DNA_polymerases_(catalytic_subunits) 8 107 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410866 121410866 + Missense_Mutation SNP T T C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr3:121410866T>C uc003eei.3 - 14 7456 c.7330A>G c.(7330-7332)ACA>GCA p.T2444A GOLGB1_uc010hrc.2_Missense_Mutation_p.T2449A|GOLGB1_uc003eej.3_Missense_Mutation_p.T2410A NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2444 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) GTTTTCAGTGTTTCCATAAGC 0.393 NA 21 128 0 0 0 0 TFDP2 7029 broad.mit.edu 37 3 141692899 141692899 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr3:141692899C>T uc003eun.3 - 8 1033 c.654G>A c.(652-654)CAG>CAA p.Q218Q TFDP2_uc003euk.3_Silent_p.Q131Q|TFDP2_uc010hur.2_Silent_p.Q158Q|TFDP2_uc003eul.3_Silent_p.Q158Q|TFDP2_uc011bnf.1_Silent_p.Q121Q|TFDP2_uc011bng.1_Silent_p.Q82Q|TFDP2_uc003eum.3_Silent_p.Q158Q NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 218 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 CCTCCAGATTCTGACATTCCT 0.294 NA 31 82 0 0 0 0 LRPAP1 4043 broad.mit.edu 37 4 3520617 3520617 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:3520617C>T uc003ghi.2 - 4 658 c.573G>A c.(571-573)GAG>GAA p.E191E NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 191 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TGCTCAGGGTCTCCAGCAGGA 0.393 NA 3 9 0 0 0 0 ARAP2 116984 broad.mit.edu 37 4 36162102 36162102 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:36162102G>A uc003gsq.1 - 13 2759 c.2421C>T c.(2419-2421)CTC>CTT p.L807L ARAP2_uc003gsr.1_Silent_p.L807L NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 807 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTTCTTTGGTGAGAGATGCCA 0.289 NA 3 36 0 0 0 0 SLC30A9 10463 broad.mit.edu 37 4 42069198 42069198 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:42069198C>T uc003gwl.2 + 14 1387 c.1241C>T c.(1240-1242)ACT>ATT p.T414I SLC30A9_uc011byx.1_Missense_Mutation_p.T174I NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), 414 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 ATGGGCCTTACTTCTATAACA 0.333 NA 5 146 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52861043 52861044 + Missense_Mutation DNP GG GG AA TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:52861043_52861044GG>AA uc003gzi.2 - 4 2157_2158 c.2144_2145CC>TT c.(2143-2145)TCC>TTT p.S715F NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 715 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CTGAACTTATGGAGCTCAGAGT 0.53 NA 5 86 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66197747 66197747 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:66197747C>T uc003hcy.2 - 17 3145 c.2952G>A c.(2950-2952)GAG>GAA p.E984E EPHA5_uc003hcx.2_Silent_p.E916E|EPHA5_uc003hcz.2_Silent_p.E962E|EPHA5_uc011cah.1_Silent_p.E985E|EPHA5_uc011cai.1_Silent_p.E963E|EPHA5_uc003hda.2_Silent_p.E985E NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 984 Cytoplasmic (Potential).|SAM. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCATGAAAATCTCTGTATACC 0.433 NA TSP Lung(17;0.13) 11 43 0 0 0 0 CXCL10 3627 broad.mit.edu 37 4 76943923 76943923 + Missense_Mutation SNP T T G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:76943923T>G uc003hjl.3 - 2 179 c.109A>C c.(109-111)AAT>CAT p.N37H ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron NM_001565 NP_001556 P02778 CXL10_HUMAN small inducible cytokine B10 precursor 37 blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity 0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACAGGTTGATTACTAATGCTG 0.408 NA 4 81 0 0 0 0 SEC31A 22872 broad.mit.edu 37 4 83774850 83774850 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:83774850A>G uc003hnf.2 - 18 2191 c.2027T>C c.(2026-2028)CTT>CCT p.L676P SEC31A_uc003hne.2_Missense_Mutation_p.L409P|SEC31A_uc011ccl.1_Missense_Mutation_p.L637P|SEC31A_uc003hnl.2_Missense_Mutation_p.L637P|SEC31A_uc003hng.2_Missense_Mutation_p.L676P|SEC31A_uc003hnh.2_Missense_Mutation_p.L676P|SEC31A_uc003hni.2_Missense_Mutation_p.L676P|SEC31A_uc003hnj.2_Missense_Mutation_p.L637P|SEC31A_uc011ccm.1_Missense_Mutation_p.L671P|SEC31A_uc011ccn.1_Missense_Mutation_p.L676P|SEC31A_uc003hnk.2_Missense_Mutation_p.L637P|SEC31A_uc003hnm.2_Missense_Mutation_p.L676P|SEC31A_uc003hnn.1_Missense_Mutation_p.L676P NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 676 WD 7. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TTCATTTTCAAGCCTGGTTCC 0.378 NA 14 40 0 0 0 0 THAP9 79725 broad.mit.edu 37 4 83839313 83839313 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:83839313G>A uc003hnt.2 + 5 2067 c.1948G>A c.(1948-1950)GAA>AAA p.E650K THAP9_uc003hns.1_Missense_Mutation_p.E506K|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.E367K NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 650 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) ATTTCAAGATGAAGTTTTTCT 0.398 NA 6 50 0 0 0 0 COPS4 51138 broad.mit.edu 37 4 83989672 83989672 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:83989672G>A uc003hoa.2 + 9 1223 c.1084G>A c.(1084-1086)GAA>AAA p.E362K COPS4_uc003hob.2_Missense_Mutation_p.E362K|COPS4_uc010ijw.2_Missense_Mutation_p.E394K|COPS4_uc010ijx.2_Intron NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 362 PCI. cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) AGTTCATTTTGAAAGTAAGAG 0.333 NA 5 44 0 0 0 0 TET2 54790 broad.mit.edu 37 4 106156428 106156428 + Silent SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr4:106156428A>G uc003hxk.2 + 3 1715 c.1329A>G c.(1327-1329)ACA>ACG p.T443T TET2_uc011cez.1_Silent_p.T464T|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.T443T|TET2_uc003hxi.1_Silent_p.T443T NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 443 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) AAAGTAACACAACACTTTTAA 0.463 NA Mis N|F MDS 22 45 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461426 5461426 + Missense_Mutation SNP C C A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr5:5461426C>A uc003jdm.3 + 13 2201 c.1979C>A c.(1978-1980)ACT>AAT p.T660N NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 660 ovary(1)|central_nervous_system(1) 2 ACAGATATTACTACTAAAGTA 0.393 NA 16 62 4.75e-09 5.2e-09 1 0 RNASEN 29102 broad.mit.edu 37 5 31409214 31409214 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr5:31409214C>T uc003jhg.2 - 32 4162 c.3803G>A c.(3802-3804)TGT>TAT p.C1268Y RNASEN_uc003jhh.2_Missense_Mutation_p.C1231Y NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 1268 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|DRBM. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TGTCAAGCAACACTGCTGAAG 0.453 NA 8 51 0 0 0 0 SEMA6A 57556 broad.mit.edu 37 5 115782989 115782989 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr5:115782989G>A uc010jck.2 - 19 3122 c.2413C>T c.(2413-2415)CTG>TTG p.L805L SEMA6A_uc003krx.3_Silent_p.L822L|SEMA6A_uc011cwe.1_Silent_p.L184L|SEMA6A_uc003krv.3_Silent_p.L232L|SEMA6A_uc003krw.3_Silent_p.L282L|SEMA6A_uc010jcj.2_Silent_p.L349L NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 805 Cytoplasmic (Potential).|Pro-rich. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GAGGCCCGCAGGGGCAGGTCC 0.652 NA 7 50 0 0 0 0 HSD17B4 3295 broad.mit.edu 37 5 118865640 118865640 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr5:118865640C>T uc003ksj.2 + 21 1942 c.1819C>T c.(1819-1821)CCA>TCA p.P607S HSD17B4_uc011cwg.1_Missense_Mutation_p.P583S|HSD17B4_uc011cwh.1_Missense_Mutation_p.P589S|HSD17B4_uc011cwi.1_Missense_Mutation_p.P632S|HSD17B4_uc003ksk.3_Missense_Mutation_p.P460S|HSD17B4_uc011cwj.1_Missense_Mutation_p.P460S|HSD17B4_uc010jcn.1_Missense_Mutation_p.P345S|HSD17B4_uc010jco.1_Silent_p.H75H NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 607 Enoyl-CoA hydratase 2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) GGATCTTGCACCAACATCTGG 0.363 NA 7 70 0 0 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188443 140188443 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr5:140188443C>T uc003lhi.2 + 1 1772 c.1671C>T c.(1669-1671)GAC>GAT p.D557D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D557D|PCDHA4_uc011daa.1_Silent_p.D557D NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 557 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAAAACGACA 0.667 NA 7 50 0 0 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043662 26043662 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:26043662G>A uc003nfu.2 - 1 224 c.224C>T c.(223-225)GCG>GTG p.A75V HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 75 nucleosome assembly nucleosome|nucleus DNA binding 0 AGCCTCGCCCGCGATGCGCTC 0.597 NA 36 89 0 0 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101060 27101060 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:27101060G>A uc003niw.2 + 1 244 c.210G>A c.(208-210)GCG>GCA p.A70A HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 70 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 CGGGCAACGCGGCCCGCGACA 0.647 NA 28 52 0 0 0 0 OR2J2 26707 broad.mit.edu 37 6 29141562 29141562 + Silent SNP A A T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:29141562A>T uc011dlm.1 + 1 252 c.150A>T c.(148-150)TCA>TCT p.S50S NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCATCCTGTCATACGTGGACT 0.453 NA 6 288 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38939413 38939413 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:38939413G>A uc003ooe.1 + 81 12446 c.11846G>A c.(11845-11847)CGA>CAA p.R3949Q DNAH8_uc003oog.1_Missense_Mutation_p.R398Q NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GTACATGCTCGAAAGCTGATT 0.413 NA 4 31 0 0 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219502 44219502 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:44219502G>A uc003oxa.1 + 9 1427 c.1343G>A c.(1342-1344)CGC>CAC p.R448H HSP90AB1_uc011dvr.1_Missense_Mutation_p.R438H|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R448H|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R268H|HSP90AB1_uc003oxc.1_Missense_Mutation_p.R86H NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 448 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCACTAACCGCCGCCGCCTG 0.468 NA 10 103 0 0 0 0 GSTA5 221357 broad.mit.edu 37 6 52701052 52701052 + Missense_Mutation SNP T T C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:52701052T>C uc003pba.1 - 4 324 c.254A>G c.(253-255)GAC>GGC p.D85G NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 85 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) CTCCTTCATGTCTTTCCCATA 0.453 NA 53 122 0 0 0 0 FHL5 9457 broad.mit.edu 37 6 97052644 97052644 + Missense_Mutation SNP C C T rs145856574 byFrequency TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:97052644C>T uc003pos.1 + 4 583 c.178C>T c.(178-180)CGG>TGG p.R60W FHL5_uc003pot.1_Missense_Mutation_p.R60W NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 60 LIM zinc-binding 1. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TTACAAAGACCGGCACTGGCA 0.433 NA 10 56 0 0 0 0 KLHL32 114792 broad.mit.edu 37 6 97414959 97414959 + Missense_Mutation SNP G G C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:97414959G>C uc010kcm.1 + 2 495 c.23G>C c.(22-24)AGT>ACT p.S8T KLHL32_uc003poy.2_Missense_Mutation_p.S8T|KLHL32_uc011ead.1_Missense_Mutation_p.S8T|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Missense_Mutation_p.S8T NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 8 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CGCTGCCTCAGGTATGCCCTG 0.483 NA 5 12 0 0 0 0 C6orf211 79624 broad.mit.edu 37 6 151785628 151785628 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:151785628G>A uc003qok.1 + 4 692 c.433G>A c.(433-435)GAG>AAG p.E145K C6orf211_uc011ees.1_Missense_Mutation_p.E26K NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 145 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) AGAATCAAAAGAGCAAAATTT 0.328 NA 6 37 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155450482 155450482 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr6:155450482C>T uc003qqb.2 + 6 1398 c.125C>T c.(124-126)TCA>TTA p.S42L TIAM2_uc003qqe.2_Missense_Mutation_p.S42L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 42 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAGGAAAAGTCATTGCATGGA 0.463 NA 7 37 0 0 0 0 VPS41 27072 broad.mit.edu 37 7 38796567 38796567 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:38796567C>T uc003tgy.2 - 19 1592 c.1566G>A c.(1564-1566)AAG>AAA p.K522K VPS41_uc003tgz.2_Silent_p.K497K|VPS41_uc010kxn.2_Silent_p.K433K NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 522 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TGCCATAGTTCTTGTCATAGG 0.299 NA 7 48 0 0 0 0 C7orf25 79020 broad.mit.edu 37 7 42950074 42950074 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:42950074G>A uc003thw.2 - 2 890 c.426C>T c.(424-426)ATC>ATT p.I142I C7orf25_uc010kxq.2_Silent_p.I142I|C7orf25_uc003thx.3_Silent_p.I200I|C7orf25_uc010kxr.2_Silent_p.I200I NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 142 skin(1) 1 CCTGCTCAATGATGCTTTTGT 0.507 NA 7 101 0 0 0 0 LANCL2 55915 broad.mit.edu 37 7 55466318 55466318 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:55466318C>T uc003tqp.2 + 3 1103 c.525C>T c.(523-525)GTC>GTT p.V175V NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 175 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) AGGAATGTGTCACAAAGTGAG 0.463 NA 8 40 0 0 0 0 LRCH4 4034 broad.mit.edu 37 7 100179491 100179491 + Silent SNP G G A rs149222783 byFrequency TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:100179491G>A uc003uvj.2 - 4 560 c.507C>T c.(505-507)AAC>AAT p.N169N LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 169 LRR 6. nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATTGGAGCTCGTTGCTGCTCA 0.612 NA 5 81 0 0 0 0 TRIM56 81844 broad.mit.edu 37 7 100731849 100731849 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:100731849C>T uc003uxq.2 + 3 1487 c.1256C>T c.(1255-1257)CCA>CTA p.P419L TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 419 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) GCCCAGACCCCAAAAGAGGAA 0.642 NA 10 75 0 0 0 0 PSMC2 5701 broad.mit.edu 37 7 103007958 103007958 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:103007958A>G uc003vbs.2 + 10 1013 c.943A>G c.(943-945)ATT>GTT p.I315V SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.I178V NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 315 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TAGAGGCAATATTAAAGTGCT 0.443 NA 59 39 0 0 0 0 PRSS1 5644 broad.mit.edu 37 7 142459743 142459743 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr7:142459743G>A uc003wak.2 + 3 336 c.319G>A c.(319-321)GAC>AAC p.D107N uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.D47N NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 107 Peptidase S1. Charge relay system. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGAACAATGACATCATGTT 0.552 NA Hereditary_Pancreatitis 17 86 0 0 0 0 FUT10 84750 broad.mit.edu 37 8 33246581 33246581 + Missense_Mutation SNP C C T rs17855839 TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr8:33246581C>T uc003xje.2 - 4 1468 c.1112G>A c.(1111-1113)CGG>CAG p.R371Q FUT10_uc003xjc.2_Missense_Mutation_p.R378Q|FUT10_uc003xjd.2_Missense_Mutation_p.R343Q|FUT10_uc011lbi.1_Missense_Mutation_p.R421Q|FUT10_uc003xjf.2_Missense_Mutation_p.R309Q|FUT10_uc003xjg.2_Missense_Mutation_p.R343Q|FUT10_uc003xjh.2_Missense_Mutation_p.R371Q NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 371 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TCCCCATTTCCGTTCCCTGAG 0.478 NA 37 98 0 0 0 0 SOX17 64321 broad.mit.edu 37 8 55372417 55372417 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr8:55372417C>T uc003xsb.3 + 2 1311 c.1107C>T c.(1105-1107)TTC>TTT p.F369F NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 369 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) ATCTGCACTTCGTGTGCAAGC 0.662 NA 4 22 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 125113503 125113503 + Silent SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr8:125113503G>A uc003yqw.2 + 38 5255 c.5049G>A c.(5047-5049)AAG>AAA p.K1683K uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1683 C2 6.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTTTAGAGAAGATGGAGTGTA 0.483 NA 5 64 0 0 0 0 RRAGA 10670 broad.mit.edu 37 9 19050493 19050493 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr9:19050493C>T uc003znj.2 + 1 1122 c.836C>T c.(835-837)CCG>CTG p.P279L NM_006570 NP_006561 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 279 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity 0 ATGTCAGATCCGTCGATCCCT 0.512 NA 8 134 0 0 0 0 RABEPK 10244 broad.mit.edu 37 9 127969967 127969967 + Missense_Mutation SNP A A G rs17855990 TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr9:127969967A>G uc004bpi.2 + 4 351 c.178A>G c.(178-180)AGA>GGA p.R60G RABEPK_uc004bph.1_Missense_Mutation_p.R60G|RABEPK_uc004bpj.2_Missense_Mutation_p.R60G|RABEPK_uc004bpk.2_Missense_Mutation_p.R60G|RABEPK_uc004bpl.1_Missense_Mutation_p.R60G|RABEPK_uc004bpm.2_Missense_Mutation_p.R60G NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 60 Kelch 1. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 AAATCCAAACAGAAGCTTCTC 0.532 NA 8 141 0 0 0 0 C9orf96 169436 broad.mit.edu 37 9 136260872 136260872 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr9:136260872C>T uc004cdk.2 + 9 909 c.848C>T c.(847-849)TCG>TTG p.S283L C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 283 Protein kinase. ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ATCGACCCCTCGGATCGAATA 0.493 NA 12 87 0 0 0 0 PTCHD1 139411 broad.mit.edu 37 X 23353314 23353314 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chrX:23353314G>A uc004dal.3 + 1 330 c.322G>A c.(322-324)GAC>AAC p.D108N PTCHD1_uc010nfu.1_Missense_Mutation_p.D108N NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 108 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CAACATGCTGGACCAGCATCA 0.677 NA 7 26 0 0 0 0 AWAT1 158833 broad.mit.edu 37 X 69455943 69455943 + Missense_Mutation SNP G G A TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chrX:69455943G>A uc004dxy.2 + 3 250 c.209G>A c.(208-210)AGG>AAG p.R70K NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN wax synthase 1 70 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity ovary(3) 3 GCCTGGGTAAGGAACTGGTGT 0.517 NA 11 91 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70356763 70356763 + Missense_Mutation SNP A A G TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chrX:70356763A>G uc004dyy.2 + 38 5634 c.5435A>G c.(5434-5436)TAT>TGT p.Y1812C MED12_uc011mpq.1_Missense_Mutation_p.Y1812C|MED12_uc004dyz.2_Missense_Mutation_p.Y1812C|MED12_uc004dza.2_Missense_Mutation_p.Y1659C|MED12_uc010nla.2_Missense_Mutation_p.Y438C NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1812 Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) AGCGGCCCTTATGGTGTGACA 0.592 NA 15 42 0 0 0 0 CT45A5 441521 broad.mit.edu 37 X 134947917 134947917 + Nonsense_Mutation SNP G G T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chrX:134947917G>T uc004eze.2 - 3 653 c.408C>A c.(406-408)TGC>TGA p.C136* CT45A5_uc011mvu.1_Nonsense_Mutation_p.C136* NM_001007551 NP_001007552 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 136 0 TTCGTCCAAGGCATCGGATTT 0.398 NA 26 95 2.28e-19 2.52e-19 1 0 TAF10 6881 broad.mit.edu 37 11 6633269 6633269 + Frame_Shift_Del DEL C C - TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr11:6633269delC uc001mej.1 - 1 177 c.152delG c.(151-153)GGAfs p.G51fs NM_006284 NP_006275 Q12962 TAF10_HUMAN TBP-related factor 10 51 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGCCCCAGGTCCCCCCGCTGT 0.682 NA 2 4 --- --- --- --- NA NA NA NA TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr2:98427639delT uc002syh.3 - 18 2149 c.1920delA c.(1918-1920)AAAfs p.K640fs NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 640 integral to membrane ovary(4)|central_nervous_system(2) 6 TCCCCTCTAATTTTTTTGCAG 0.393 NA 11 1148 --- --- --- --- NA NA NA NA MOCS3 27304 broad.mit.edu 37 20 49575960 49575962 + In_Frame_Del DEL TGC TGC - TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr20:49575960_49575962delTGC uc002xvy.1 + 1 598_600 c.581_583delTGC c.(580-585)GTGCTG>GTG p.L195del DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 195 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 GACGCATGTGTGCTGGCGGGTCG 0.596 NA 15 55 --- --- --- --- NA NA NA NA ZFR 51663 broad.mit.edu 37 5 32407005 32407025 + In_Frame_Del DEL GGCAGCTGTTGCAGCAGCAGC GGCAGCTGTTGCAGCAGCAGC - TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr5:32407005_32407025delGGCAGCTGTTGCAGCAGCAGC uc003jhr.1 - 6 966_986 c.886_906delGCTGCTGCTGCAACAGCTGCC c.(886-906)GCTGCTGCTGCAACAGCTGCCdel p.AAAATAA296del ZFR_uc010iun.1_In_Frame_Del_p.AAAATAA296del NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 296_302 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TCCCTGTCCAGGCAgctgttgcagcagcagcagcagctgct 0.294 NA 8 51 --- --- --- --- NA NA NA NA C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c21f40c6-4260-4def-8cca-1c11895b35b0 047fe7f4-33c6-4080-8d2f-5849cd110a6c g.chr8:86129664delT uc010mac.1 - 3 305 c.65delA c.(64-66)AACfs p.N22fs C8orf59_uc003ydd.2_Frame_Shift_Del_p.N22fs|C8orf59_uc010mad.1_Frame_Shift_Del_p.N22fs|C8orf59_uc003yde.2_Frame_Shift_Del_p.N22fs|C8orf59_uc011lfu.1_RNA NM_001099670 NP_001093140 Q8N0T1 CH059_HUMAN hypothetical protein LOC401466 22 0 AGCCTTAAAGTTTTTTTGGCT 0.343 NA 7 207 --- --- --- --- NA NA NA NA