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 SLC45A1 50651 broad.mit.edu 37 1 8390837 8390837 + Silent SNP C C T rs149921947 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:8390837C>T uc001apb.2 + 4 1284 c.1284C>T c.(1282-1284)TCC>TCT p.S428S SLC45A1_uc001apc.2_Silent_p.S126S NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 428 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGACCTCCGGCTGTGACG 0.657 NA 12 82 0 0 0 0 TARDBP 23435 broad.mit.edu 37 1 11080498 11080498 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:11080498G>C uc001art.2 + 5 690 c.556G>C c.(556-558)GAG>CAG p.E186Q TARDBP_uc010oap.1_Missense_Mutation_p.E70Q NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 186 RRM 1. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) AAGCCAAGATGAGCCTTTGAG 0.398 NA 11 74 0 0 0 0 PINK1 65018 broad.mit.edu 37 1 20975048 20975048 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:20975048G>A uc001bdm.2 + 6 1268 c.1174G>A c.(1174-1176)GAG>AAG p.E392K PINK1_uc001bdn.2_Missense_Mutation_p.E85K NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 392 Protein kinase.|Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCTGGCTGATGAGAGCATCGG 0.612 NA 3 29 0 0 0 0 HP1BP3 50809 broad.mit.edu 37 1 21103166 21103166 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:21103166C>T uc001bdw.1 - 4 414 c.274G>A c.(274-276)GAG>AAG p.E92K HP1BP3_uc001bdv.1_Missense_Mutation_p.E54K|HP1BP3_uc010odh.1_Missense_Mutation_p.E54K|HP1BP3_uc001bdy.1_Missense_Mutation_p.E92K|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E91K|HP1BP3_uc001beb.2_Missense_Mutation_p.E92K NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 92 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TGCTCTGCCTCACTCGAAGTA 0.423 NA 21 102 0 0 0 0 SRRM1 10250 broad.mit.edu 37 1 24978971 24978971 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:24978971G>C uc001bjm.2 + 7 996 c.772G>C c.(772-774)GAA>CAA p.E258Q SRRM1_uc010oel.1_Missense_Mutation_p.E258Q|SRRM1_uc009vrh.1_Missense_Mutation_p.E219Q|SRRM1_uc009vri.1_Missense_Mutation_p.E175Q|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 258 Pro-rich.|Arg-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AGAGCCTAAAGAACCTTCTCC 0.443 NA 3 25 0 0 0 0 TIE1 7075 broad.mit.edu 37 1 43778831 43778831 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:43778831C>T uc001ciu.2 + 13 2032 c.1953C>T c.(1951-1953)CAC>CAT p.H651H TIE1_uc010okd.1_Silent_p.H651H|TIE1_uc010oke.1_Silent_p.H606H|TIE1_uc009vwq.2_Silent_p.H607H|TIE1_uc010okf.1_Silent_p.H296H|TIE1_uc010okg.1_Silent_p.H296H NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 651 Fibronectin type-III 3.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GACACCTCCACGCCCAGGCCC 0.637 NA 6 45 0 0 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44303969 44303969 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:44303969G>A uc001ckc.2 + 5 465 c.288G>A c.(286-288)ACG>ACA p.T96T ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.T111T|ST3GAL3_uc001cka.2_Silent_p.T80T|ST3GAL3_uc001ckb.2_Silent_p.T165T|ST3GAL3_uc001ckd.2_Silent_p.T150T|ST3GAL3_uc001cke.2_Silent_p.T80T|ST3GAL3_uc001ckf.2_Silent_p.T134T|ST3GAL3_uc001ckg.2_Silent_p.T96T|ST3GAL3_uc001ckh.2_Silent_p.T111T|ST3GAL3_uc001cki.2_Silent_p.T96T|ST3GAL3_uc009vwv.2_Silent_p.T96T|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Silent_p.T2T|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.T95T|ST3GAL3_uc001ckl.2_Silent_p.T96T|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.T95T|ST3GAL3_uc001cko.2_Silent_p.T80T|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.T80T|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.T80T NM_006279 NP_006270 Q11203 SIAT6_HUMAN sialyltransferase 6 isoform j 96 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity ovary(3) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CCTTGATGACGGCCATCTTCC 0.542 NA 28 170 0 0 0 0 CDCP2 200008 broad.mit.edu 37 1 54610233 54610233 + Silent SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:54610233C>G uc001cwv.1 - 2 1181 c.333G>C c.(331-333)CCG>CCC p.P111P NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 111 CUB 1. extracellular region ovary(1) 1 TGAAGGGCGGCGGGGGCACCT 0.587 NA 9 33 0 0 0 0 LRRC40 55631 broad.mit.edu 37 1 70618219 70618219 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:70618219C>G uc001der.1 - 12 1388 c.1336G>C c.(1336-1338)GAA>CAA p.E446Q NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 446 LRR 14. ovary(1) 1 TCCTTCAGTTCTACCATCCTG 0.323 NA 7 35 0 0 0 0 AK5 26289 broad.mit.edu 37 1 77806120 77806120 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:77806120G>C uc001dhn.2 + 6 1015 c.758G>C c.(757-759)AGA>ACA p.R253T AK5_uc001dho.2_Missense_Mutation_p.R227T NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 253 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 CTCAAAGAAAGATTACTGAAG 0.458 NA 11 80 0 0 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964589 119964589 + Silent SNP G G A rs114527791 by1000genomes TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:119964589G>A uc001ehs.2 + 3 1238 c.465G>A c.(463-465)CCG>CCA p.P155P HSD3B2_uc001eht.2_Silent_p.P155P|HSD3B2_uc001ehu.2_Intron NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 155 P -> L (in AH2; nonsalt-wasting form). androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CTCCATACCCGTACAGCAAAA 0.498 NA 21 74 0 0 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473612 145473612 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:145473612C>T uc001enq.1 + 4 1577 c.284C>T c.(283-285)TCG>TTG p.S95L NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 95 ANK 3. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGGTGGCCTCGCTGCTCCTT 0.721 NA 9 47 0 0 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473671 145473671 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:145473671C>G uc001enq.1 + 4 1636 c.343C>G c.(343-345)CTT>GTT p.L115V NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 115 ANK 4. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGCCTCGGCTCTTGTCCACGC 0.701 NA 8 38 0 0 0 0 MUC1 4582 broad.mit.edu 37 1 155160217 155160217 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:155160217C>T uc010pfj.1 - 4 1093 c.687G>A c.(685-687)CTG>CTA p.L229L RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_Silent_p.L59L|MUC1_uc001fhz.2_Silent_p.L59L|MUC1_uc010pfb.1_Silent_p.L59L|MUC1_uc010pfc.1_RNA|MUC1_uc009wph.2_Silent_p.L59L|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_RNA|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Silent_p.L59L|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Silent_p.L205L|MUC1_uc010pfi.1_Silent_p.L205L|MUC1_uc010pfk.1_RNA|MUC1_uc010pfl.1_RNA|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Silent_p.L81L|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Silent_p.L90L|MUC1_uc009wpo.2_Silent_p.L96L|MUC1_uc009wps.2_Silent_p.L117L|MUC1_uc009wpt.2_Silent_p.L120L|MUC1_uc001fic.2_Silent_p.L108L|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Silent_p.L122L|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Silent_p.L118L|MUC1_uc001fid.2_Silent_p.L109L|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Silent_p.L143L|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Silent_p.L59L|MUC1_uc001fiq.2_Silent_p.L59L|MUC1_uc009wpz.2_Silent_p.L161L|MUC1_uc010pfn.1_Silent_p.L134L|MUC1_uc009wqa.2_Silent_p.L217L|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Silent_p.L134L|MUC1_uc009wqc.2_Silent_p.L131L|MUC1_uc009wqd.2_Silent_p.L155L|MUC1_uc009wqb.2_Silent_p.L59L|MUC1_uc010pfq.1_Silent_p.L131L|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Silent_p.L59L|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Silent_p.L152L|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_RNA|MUC1_uc001fik.2_Silent_p.L152L|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Silent_p.L143L|MUC1_uc001fis.1_Intron P15941 MUC1_HUMAN SubName: Full=Mucin 1, cell surface associated; 1134 Extracellular (Potential).|SEA. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGAGATCGTCAGGTTATATC 0.552 NA T IGH@ B-NHL 7 23 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197396601 197396601 + Missense_Mutation SNP T T C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:197396601T>C uc001gtz.2 + 7 2281 c.2146T>C c.(2146-2148)TTT>CTT p.F716L CRB1_uc010poz.1_Missense_Mutation_p.F647L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.F604L|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.F197L|CRB1_uc001gub.1_Missense_Mutation_p.F365L NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 716 Extracellular (Potential).|Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GGCAGGCAGATTTGGCCAGGA 0.433 NA 5 31 0 0 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204408140 204408140 + Missense_Mutation SNP C C T rs75201325 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:204408140C>T uc001haw.2 - 24 3918 c.3439G>A c.(3439-3441)GTG>ATG p.V1147M PIK3C2B_uc010pqv.1_Missense_Mutation_p.V1119M NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1147 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAGCCGGTCACCCCATGCTCC 0.592 NA 9 19 0 0 0 0 NID1 4811 broad.mit.edu 37 1 236189239 236189239 + Missense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:236189239C>A uc001hxo.2 - 8 2043 c.1941G>T c.(1939-1941)AAG>AAT p.K647N NID1_uc009xgd.2_Missense_Mutation_p.K647N NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 647 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGCGCAAGATCTTCTCCTCCT 0.577 NA 39 174 5.59e-11 6.13e-11 1 0 PITRM1 10531 broad.mit.edu 37 10 3189404 3189404 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:3189404G>C uc010qah.1 - 17 2012 c.1980C>G c.(1978-1980)ATC>ATG p.I660M PITRM1_uc001igr.1_Missense_Mutation_p.I758M|PITRM1_uc001igs.1_5'Flank|PITRM1_uc001igt.1_Missense_Mutation_p.I758M|PITRM1_uc009xhv.1_Missense_Mutation_p.I324M|PITRM1_uc001igu.1_Missense_Mutation_p.I684M|PITRM1_uc010qai.1_Missense_Mutation_p.I729M|uc001igv.1_RNA E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 660 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 GGATGGGTTTGATATCTGTCA 0.438 NA 8 49 0 0 0 0 SFMBT2 57713 broad.mit.edu 37 10 7409703 7409703 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:7409703C>T uc009xio.1 - 4 435 c.344G>A c.(343-345)CGC>CAC p.R115H SFMBT2_uc001ijn.1_Missense_Mutation_p.R115H|SFMBT2_uc010qay.1_Missense_Mutation_p.R115H|SFMBT2_uc001ijo.1_Missense_Mutation_p.R115H NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 115 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GTCGGCCCTGCGGTCCTCCCC 0.612 NA 7 35 0 0 0 0 GDF2 2658 broad.mit.edu 37 10 48414496 48414496 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:48414496C>T uc001jfa.1 - 2 535 c.372G>A c.(370-372)GAG>GAA p.E124E NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 124 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 AGGGGAAGTCCTCTGTGGCAG 0.507 NA 3 21 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64979732 64979732 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:64979732G>C uc001jmn.2 - 4 759 c.459C>G c.(457-459)GAC>GAG p.D153E JMJD1C_uc001jml.2_Intron|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_5'UTR|JMJD1C_uc009xpi.2_5'UTR|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc001jmp.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 153 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GGTTTAGGCTGTCTATGTCGT 0.423 NA 17 70 0 0 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857399 68857399 + Missense_Mutation SNP A A C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:68857399A>C uc001jmz.1 + 3 2141 c.1591A>C c.(1591-1593)AGT>CGT p.S531R CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 531 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GCCCACAATAAGTTACTGTGG 0.418 NA 9 87 0 0 0 0 ENTPD7 57089 broad.mit.edu 37 10 101439180 101439180 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:101439180G>A uc001kqa.3 + 4 532 c.354G>A c.(352-354)ATG>ATA p.M118I ENTPD7_uc009xwl.2_Missense_Mutation_p.M120I NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 118 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TCAAACAGATGAGAGACCGCA 0.428 NA 4 28 0 0 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075039 106075039 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr10:106075039G>A uc001kye.2 - 2 844 c.771C>T c.(769-771)TGC>TGT p.C257C ITPRIP_uc001kyf.2_Silent_p.C257C|ITPRIP_uc001kyg.2_Silent_p.C257C NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 257 plasma membrane 0 TGGTCTTGCCGCAGATGCAGC 0.647 NA 24 51 0 0 0 0 COPB1 1315 broad.mit.edu 37 11 14490304 14490304 + Nonsense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:14490304G>A uc001mli.2 - 16 2375 c.2068C>T c.(2068-2070)CAG>TAG p.Q690* COPB1_uc001mlg.2_Nonsense_Mutation_p.Q690*|COPB1_uc001mlh.2_Nonsense_Mutation_p.Q690* NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 690 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 AAACTCAGCTGAAACTGATCT 0.423 NA 18 149 0 0 0 0 ELP4 26610 broad.mit.edu 37 11 31805046 31805046 + Missense_Mutation SNP G G A rs3026403 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:31805046G>A uc001mtb.2 + 10 1284 c.1249G>A c.(1249-1251)GGA>AGA p.G417R ELP4_uc001mtc.2_3'UTR|ELP4_uc010rdz.1_Missense_Mutation_p.R464Q NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 417 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) CATGATGGCCGGAGGCAAGAA 0.498 NA 3 74 0 0 0 0 OR4A15 81328 broad.mit.edu 37 11 55135812 55135812 + Nonsense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:55135812C>A uc010rif.1 + 1 453 c.453C>A c.(451-453)TAC>TAA p.Y151* NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 151 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATGATCGATACATGGCCATCT 0.438 NA 35 154 4.32e-19 4.81e-19 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798369 55798369 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:55798369C>T uc010riw.1 + 1 475 c.475C>T c.(475-477)CAT>TAT p.H159Y NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) ATCACTGGTCCATGTGTGCCT 0.438 NA 66 107 0 0 0 0 C11orf10 746 broad.mit.edu 37 11 61558011 61558011 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:61558011C>T uc001nsf.2 - 2 122 c.67G>A c.(67-69)GTG>ATG p.V23M FEN1_uc001nsg.2_5'Flank NM_014206 NP_055021 P61165 CK010_HUMAN hypothetical protein LOC746 23 Helical; (Potential). integral to membrane breast(1) 1 AAAAGCACCACGGTCAGATGG 0.527 NA 8 13 0 0 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120247 64120247 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:64120247G>A uc001nzy.2 + 20 3432 c.3388G>A c.(3388-3390)GTG>ATG p.V1130M CCDC88B_uc009ypo.1_Missense_Mutation_p.V1127M|CCDC88B_uc001oaa.2_Missense_Mutation_p.V282M|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1130 Potential. microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 GCGGGCCAGCGTGGAGGCACA 0.657 NA 4 63 0 0 0 0 ATG2A 23130 broad.mit.edu 37 11 64678743 64678743 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:64678743C>T uc001obx.2 - 10 1348 c.1233G>A c.(1231-1233)AAG>AAA p.K411K NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 411 protein binding ovary(1)|central_nervous_system(1) 2 TGGGGGCCATCTTGCCTGAGG 0.632 NA 28 46 0 0 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825688 64825688 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:64825688G>A uc001ocn.2 - 2 236 c.220C>T c.(220-222)CCT>TCT p.P74S NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 74 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 TCATCCCGAGGGCTGGAGGCC 0.677 NA 5 40 0 0 0 0 LRP5 4041 broad.mit.edu 37 11 68131338 68131338 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:68131338G>A uc001ont.2 + 4 885 c.810G>A c.(808-810)AAG>AAA p.K270K LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 270 LDL-receptor class B 5.|Beta-propeller 1.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CTGGGGGGAAGAGGAAGGAGA 0.587 NA 7 63 0 0 0 0 CTTN 2017 broad.mit.edu 37 11 70281261 70281261 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:70281261G>A uc001opv.3 + 18 1852 c.1646G>A c.(1645-1647)CGG>CAG p.R549Q CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Missense_Mutation_p.R512Q|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Missense_Mutation_p.R233Q NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 549 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GTGGAGCTGCGGCAGTAGGGC 0.587 NA 11 36 0 0 0 0 MAP6 4135 broad.mit.edu 37 11 75299192 75299192 + Nonsense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:75299192G>A uc001owu.2 - 4 1419 c.1354C>T c.(1354-1356)CAA>TAA p.Q452* NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 452 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) ACAGGACCTTGAGTCTTACTT 0.537 NA 16 53 0 0 0 0 INTS4 92105 broad.mit.edu 37 11 77590009 77590009 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:77590009G>C uc001oys.2 - 23 2906 c.2878C>G c.(2878-2880)CCT>GCT p.P960A C11orf67_uc001oyp.2_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.2_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 960 snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CGCCGTGCAGGTTTGGGCATT 0.527 NA 8 76 0 0 0 0 CCDC89 220388 broad.mit.edu 37 11 85396236 85396236 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr11:85396236C>T uc001pau.1 - 1 1085 c.938G>A c.(937-939)CGG>CAG p.R313Q NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 313 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTGCTCAAACCGCTCCAGCGC 0.512 NA 14 51 0 0 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3757747 3757747 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:3757747C>T uc001qmj.2 - 11 1651 c.1079G>A c.(1078-1080)CGT>CAT p.R360H EFCAB4B_uc010sen.1_Missense_Mutation_p.R360H|EFCAB4B_uc010seo.1_Missense_Mutation_p.R360H|EFCAB4B_uc001qmi.1_RNA NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 360 Potential. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) GGCCTTCTCACGCTGTAGACT 0.622 NA 5 36 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6135131 6135131 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:6135131C>T uc001qnn.1 - 23 3299 c.3049G>A c.(3049-3051)GAC>AAC p.D1017N VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1017 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TCCACAGGGTCTTCCTCCACT 0.527 NA 13 63 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6688057 6688057 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:6688057C>T uc001qpo.2 - 34 5100 c.4936G>A c.(4936-4938)GAA>AAA p.E1646K CHD4_uc001qpn.2_Missense_Mutation_p.E1639K|CHD4_uc001qpp.2_Missense_Mutation_p.E1671K|uc001qpq.1_Intron NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1646 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCTGACTTTTCCTCCACCTTC 0.413 NA 6 24 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6690555 6690555 + Splice_Site SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:6690555C>G uc001qpo.2 - 32 4846 c.4682_splice c.e32-1 p.E1561_splice CHD4_uc001qpn.2_Splice_Site_p.E1554_splice|CHD4_uc001qpp.2_Splice_Site_p.E1586_splice|uc001qpq.1_Intron NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCCCATCTTCTGCAGAACAA 0.403 NA 5 67 0 0 0 0 TPI1 7167 broad.mit.edu 37 12 6979473 6979473 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:6979473G>A uc001qrk.2 + 7 714 c.676G>A c.(676-678)GAT>AAT p.D226N TPI1_uc010sfo.1_Missense_Mutation_p.D144N NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 226 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 CAGCCAGCCTGATGTGGATGG 0.572 NA OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 24 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9349219 9349219 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:9349219C>T uc001qvl.2 - 9 959 c.930G>A c.(928-930)ACG>ACA p.T310T PZP_uc009zgl.2_Silent_p.T179T NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTTCAAAGCCCGTATTTGTAA 0.393 NA 13 70 0 0 0 0 BCL2L14 79370 broad.mit.edu 37 12 12232347 12232347 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:12232347C>G uc001rac.2 + 2 309 c.108C>G c.(106-108)TTC>TTG p.F36L ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Missense_Mutation_p.F36L|BCL2L14_uc001rae.2_Missense_Mutation_p.F36L NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 36 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) ATCATGTCTTCAAGAGCACCC 0.493 NA 13 38 0 0 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27841992 27841992 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:27841992G>A uc001ric.1 + 26 2936 c.2559G>A c.(2557-2559)TTG>TTA p.L853L PPFIBP1_uc010sjr.1_Silent_p.L684L|PPFIBP1_uc001rib.1_Silent_p.L847L|PPFIBP1_uc001ria.2_Silent_p.L822L|PPFIBP1_uc001rid.1_Silent_p.L700L|PPFIBP1_uc001rif.1_Silent_p.L360L NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 853 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CTCAGTTATTGAACATCCCAC 0.408 NA 10 68 0 0 0 0 ANO6 196527 broad.mit.edu 37 12 45810577 45810577 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:45810577G>A uc001roo.2 + 17 2442 c.2107G>A c.(2107-2109)GCA>ACA p.A703T ANO6_uc010sld.1_Missense_Mutation_p.A703T|ANO6_uc010sle.1_Missense_Mutation_p.A703T|ANO6_uc010slf.1_Missense_Mutation_p.A724T|ANO6_uc010slg.1_Missense_Mutation_p.A685T NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 703 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 AAGAGTGGACGCATGGAAACT 0.483 NA 9 28 0 0 0 0 COL2A1 1280 broad.mit.edu 37 12 48367873 48367873 + Missense_Mutation SNP G G A rs121912886 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:48367873G>A uc001rqu.2 - 53 4497 c.4316C>T c.(4315-4317)ACG>ATG p.T1439M COL2A1_uc001rqt.2_Missense_Mutation_p.T220M|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1370M NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1439 Fibrillar collagen NC1. T -> M (in SEDC). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCCACTCACCGTGCAGCCATC 0.617 NA 7 52 0 0 0 0 LIMA1 51474 broad.mit.edu 37 12 50616056 50616056 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:50616056G>A uc001rwj.3 - 4 552 c.378C>T c.(376-378)CCC>CCT p.P126P LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Silent_p.P126P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 126 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 GTCTAGATCTGGGGTGGATTT 0.512 NA 11 60 0 0 0 0 KRT79 338785 broad.mit.edu 37 12 53227934 53227934 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:53227934C>T uc001sbb.2 - 1 144 c.111G>A c.(109-111)ACG>ACA p.T37T NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 37 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 TCCGAGACACCGTCACTGAGC 0.637 NA 5 53 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78531084 78531084 + Silent SNP T T G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:78531084T>G uc001syp.2 + 19 4742 c.4569T>G c.(4567-4569)TCT>TCG p.S1523S NAV3_uc001syo.2_Silent_p.S1523S|NAV3_uc010sub.1_Silent_p.S1009S|NAV3_uc009zsf.2_Silent_p.S354S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1523 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTGCCACTTCTCTGGAGGAAA 0.512 NA HNSCC(70;0.22) 8 48 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85554449 85554449 + Missense_Mutation SNP A A C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:85554449A>C uc001tac.2 + 24 4890 c.4779A>C c.(4777-4779)AAA>AAC p.K1593N NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1593 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CTCTTCCAAAATCACCAAAGA 0.338 NA 5 58 0 0 0 0 VEZT 55591 broad.mit.edu 37 12 95694420 95694420 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:95694420G>C uc001tdz.2 + 12 2416 c.2311G>C c.(2311-2313)GAA>CAA p.E771Q VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Missense_Mutation_p.E136Q|VEZT_uc001tdy.2_RNA NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 771 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 AATAATAGAAGAAAATAAAAA 0.383 NA 4 23 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97328772 97328772 + Missense_Mutation SNP T T C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:97328772T>C uc001teu.3 + 7 847 c.508T>C c.(508-510)TAC>CAC p.Y170H NEDD1_uc001tev.3_Missense_Mutation_p.Y170H|NEDD1_uc010svc.1_Missense_Mutation_p.Y81H|NEDD1_uc001tew.2_Missense_Mutation_p.Y177H|NEDD1_uc001tex.2_Missense_Mutation_p.Y81H NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 170 WD 5. Y -> C (in Ref. 1; BAC04099). cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GCACTTGAAGTACTCCTTGTT 0.328 NA 13 75 0 0 0 0 UBE3B 89910 broad.mit.edu 37 12 109972546 109972546 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:109972546C>T uc001top.2 + 28 3769 c.3166C>T c.(3166-3168)CGC>TGC p.R1056C UBE3B_uc001toq.2_Missense_Mutation_p.R1056C|UBE3B_uc001tos.2_Missense_Mutation_p.R483C|UBE3B_uc001tot.2_Missense_Mutation_p.R174C|UBE3B_uc010sxp.1_3'UTR NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1056 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CGAGAAGCTGCGCTACGCCAT 0.642 NA 9 51 0 0 0 0 RPLP0 6175 broad.mit.edu 37 12 120636693 120636693 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:120636693G>A uc001txp.2 - 5 666 c.429C>T c.(427-429)ATC>ATT p.I143I RPLP0_uc001txq.2_Silent_p.I143I|RPLP0_uc001txr.2_Silent_p.I143I|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 143 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTTAGTGGTGATACCTAAAG 0.552 NA 5 32 0 0 0 0 GPR133 283383 broad.mit.edu 37 12 131498863 131498863 + Missense_Mutation SNP C C T rs149266247 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:131498863C>T uc001uit.3 + 13 2010 c.1451C>T c.(1450-1452)ACG>ATG p.T484M GPR133_uc010tbm.1_Missense_Mutation_p.T516M NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 484 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCACTCATTACGGTCCACCTC 0.587 NA 10 47 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58208055 58208055 + Missense_Mutation SNP G G T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr13:58208055G>T uc001vhq.1 + 1 2267 c.1375G>T c.(1375-1377)GCG>TCG p.A459S PCDH17_uc010aec.1_Missense_Mutation_p.A459S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 459 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAAGTCGTTCGCGATCAAGAT 0.607 NA 3 19 2.56e-06 2.73e-06 1 0 GPR18 2841 broad.mit.edu 37 13 99907960 99907960 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr13:99907960G>A uc001voe.3 - 3 668 c.167C>T c.(166-168)ACG>ATG p.T56M UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.T56M NM_005292 NP_005283 Q14330 GPR18_HUMAN G protein-coupled receptor 18 56 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) GATGGTTACCGTGGTTCTCTT 0.348 NA 28 56 0 0 0 0 PCID2 55795 broad.mit.edu 37 13 113832567 113832567 + Missense_Mutation SNP T T A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr13:113832567T>A uc010tju.1 - 14 1226 c.1145A>T c.(1144-1146)CAG>CTG p.Q382L PCID2_uc001vtb.2_Missense_Mutation_p.Q215L|PCID2_uc010tjv.1_Missense_Mutation_p.Q382L|PCID2_uc010tjw.1_Missense_Mutation_p.Q382L|PCID2_uc001vte.2_Missense_Mutation_p.Q275L|PCID2_uc001vtd.2_Missense_Mutation_p.Q275L|PCID2_uc001vtf.2_Missense_Mutation_p.Q275L NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 382 PCI. negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CACCAGCTTCTGATGCTGATG 0.522 NA 25 26 0 0 0 0 DHRS4 10901 broad.mit.edu 37 14 24424278 24424278 + Missense_Mutation SNP G G T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr14:24424278G>T uc001wla.2 + 2 196 c.163G>T c.(163-165)GAC>TAC p.D55Y C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_RNA|DHRS4_uc010aky.2_Missense_Mutation_p.D55Y|DHRS4_uc001wlb.2_Missense_Mutation_p.D55Y|DHRS4_uc010akz.2_Missense_Mutation_p.D55Y|DHRS4_uc001wlc.3_Missense_Mutation_p.D55Y|DHRS4L2_uc001wld.3_Missense_Mutation_p.D55Y|DHRS4L2_uc001wle.3_Missense_Mutation_p.D55Y NM_021004 NP_066284 Q9BTZ2 DHRS4_HUMAN peroxisomal short-chain alcohol dehydrogenase 55 NADP (By similarity). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TTTGGCCCAGGACGGGGCCCA 0.557 NA 15 81 8.6e-14 9.56e-14 1 0 CPNE6 9362 broad.mit.edu 37 14 24546188 24546188 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr14:24546188G>A uc001wll.2 + 14 1365 c.1266G>A c.(1264-1266)CCG>CCA p.P422P CPNE6_uc010tnv.1_Silent_p.P477P|CPNE6_uc001wlm.2_Silent_p.P247P|CPNE6_uc001wln.2_Silent_p.P90P NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 422 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) TGGCTGAGCCGGCCCAGCGGG 0.637 NA 5 24 0 0 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50262630 50262630 + Nonsense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr14:50262630G>C uc001wxc.2 - 26 2566 c.2498C>G c.(2497-2499)TCA>TGA p.S833* SDCCAG1_uc010anj.1_Nonsense_Mutation_p.S833*|SDCCAG1_uc001wwz.2_Nonsense_Mutation_p.S33*|SDCCAG1_uc001wxa.2_Nonsense_Mutation_p.S113*|SDCCAG1_uc010tqi.1_Nonsense_Mutation_p.S812*|SDCCAG1_uc001wxe.2_Nonsense_Mutation_p.S791*|SDCCAG1_uc001wxd.1_Nonsense_Mutation_p.S238* NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 833 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) TAAATCTCCTGAGTCACTTGG 0.338 NA 7 45 0 0 0 0 C14orf101 54916 broad.mit.edu 37 14 57101623 57101623 + Missense_Mutation SNP T T G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr14:57101623T>G uc001xcm.2 + 14 1853 c.1731T>G c.(1729-1731)GAT>GAG p.D577E C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.D110E|C14orf101_uc001xco.2_Missense_Mutation_p.D110E NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 577 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) ACAGGTTTGATCCATCTTCTT 0.294 NA 20 62 0 0 0 0 NEK9 91754 broad.mit.edu 37 14 75567725 75567725 + Missense_Mutation SNP C C T rs151072111 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr14:75567725C>T uc001xrl.2 - 16 2126 c.1972G>A c.(1972-1974)GGT>AGT p.G658S NEK9_uc001xrk.2_Missense_Mutation_p.G158S NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 658 RCC1 5. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) AACTCATCACCGCAGGAGACC 0.517 NA 21 33 0 0 0 0 ISM2 145501 broad.mit.edu 37 14 77942421 77942421 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr14:77942421C>G uc001xtz.2 - 7 1307 c.1233G>C c.(1231-1233)AAG>AAC p.K411N ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.K323N|ISM2_uc010tvl.1_Missense_Mutation_p.K330N NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 411 AMOP. extracellular region skin(1) 1 GGAAGTCGCTCTTGCAGTTCA 0.612 NA 9 46 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31295039 31295039 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr15:31295039G>A uc001zfm.2 - 27 3926 c.3798C>T c.(3796-3798)AGC>AGT p.S1266S TRPM1_uc010azy.2_Silent_p.S1173S|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1266 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGCCATCAGCGCTATTGATGC 0.488 NA 13 56 0 0 0 0 ZNF592 9640 broad.mit.edu 37 15 85327115 85327115 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr15:85327115G>C uc002bld.2 + 4 1545 c.1209G>C c.(1207-1209)AAG>AAC p.K403N ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 403 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATCCAAGTAAGTCCCCTGTTG 0.532 NA 6 33 0 0 0 0 NTRK3 4916 broad.mit.edu 37 15 88483978 88483978 + Missense_Mutation SNP T T C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr15:88483978T>C uc002bme.1 - 14 1754 c.1592A>G c.(1591-1593)CAG>CGG p.Q531R NTRK3_uc002bmh.2_Missense_Mutation_p.Q523R|NTRK3_uc002bmf.1_Missense_Mutation_p.Q531R|NTRK3_uc010upl.1_Missense_Mutation_p.Q433R|NTRK3_uc010bnh.1_Missense_Mutation_p.Q523R NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 531 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTAATGTGCTGCACATCTGT 0.537 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 20 78 0 0 0 0 HAPLN3 145864 broad.mit.edu 37 15 89424833 89424833 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr15:89424833C>T uc002bnc.2 - 3 376 c.248G>A c.(247-249)CGT>CAT p.R83H HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R145H NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 83 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) GACACGCACACGCCGCGGGGA 0.657 NA 20 58 0 0 0 0 SYNM 23336 broad.mit.edu 37 15 99672905 99672905 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr15:99672905C>T uc002bup.2 + 6 4460 c.4340C>T c.(4339-4341)ACG>ATG p.T1447M SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1447 Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 AGCAGCAGAACGCTAAGGCAC 0.542 NA 33 114 0 0 0 0 MEF2A 4205 broad.mit.edu 37 15 100250868 100250868 + Missense_Mutation SNP G G T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr15:100250868G>T uc010urw.1 + 10 1404 c.1045G>T c.(1045-1047)GCC>TCC p.A349S MEF2A_uc010urv.1_Missense_Mutation_p.A279S|MEF2A_uc010bos.2_Missense_Mutation_p.A339S|MEF2A_uc002bvf.2_Missense_Mutation_p.A341S|MEF2A_uc002bve.2_Missense_Mutation_p.A347S|MEF2A_uc002bvg.2_Missense_Mutation_p.A339S|MEF2A_uc002bvi.2_Missense_Mutation_p.A339S|MEF2A_uc010bot.2_Missense_Mutation_p.A271S NM_005587 NP_005578 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A isoform 1 349 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding ovary(1) 1 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TGACCTGTCAGCCCTTCAAGG 0.527 NA 4 20 0.00909568 0.00930835 1 0 MSLN 10232 broad.mit.edu 37 16 818647 818647 + Splice_Site SNP G G T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:818647G>T uc002cjw.1 + 17 1859 c.1808_splice c.e17-1 p.E603_splice MSLN_uc002cjt.1_Splice_Site_p.E595_splice|MSLN_uc002cju.1_Splice_Site_p.E595_splice|MSLN_uc010brd.1_Splice_Site_p.E594_splice|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Splice_Site_p.E595_splice|MSLN_uc002cjy.1_Missense_Mutation_p.R287I|MIR662_hsa-mir-662|MI0003670_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) TCTCTCTGTAGAGGCCCTCTC 0.697 NA 12 52 4.38e-07 4.72e-07 1 0 GRIN2A 2903 broad.mit.edu 37 16 9934948 9934948 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:9934948C>T uc002czo.3 - 6 1890 c.1342G>A c.(1342-1344)GAG>AAG p.E448K GRIN2A_uc010uym.1_Missense_Mutation_p.E448K|GRIN2A_uc010uyn.1_Missense_Mutation_p.E291K|GRIN2A_uc002czr.3_Missense_Mutation_p.E448K NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 448 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCATCCCCTCATTGGTTGAA 0.254 NA 14 60 0 0 0 0 SH2B1 25970 broad.mit.edu 37 16 28883644 28883644 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:28883644C>T uc002dri.2 + 9 2086 c.1647C>T c.(1645-1647)CAC>CAT p.H549H uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.H239H|SH2B1_uc002drj.2_Silent_p.H549H|SH2B1_uc002drk.2_Silent_p.H549H|SH2B1_uc002drl.2_Silent_p.H549H|SH2B1_uc010vdd.1_Silent_p.H213H|SH2B1_uc010vde.1_Silent_p.H549H|SH2B1_uc002drm.2_Silent_p.H549H NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 549 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 CTGGCTCCCACGGTGTCTTCC 0.622 NA 10 37 0 0 0 0 NKD1 85407 broad.mit.edu 37 16 50583366 50583366 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:50583366G>A uc002egg.1 + 3 316 c.92G>A c.(91-93)CGG>CAG p.R31Q NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 31 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GCCTGGGCTCGGAAGGGCATC 0.692 NA 6 21 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 58001097 58001097 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:58001097C>G uc002emt.2 - 2 159 c.94G>C c.(94-96)GAG>CAG p.E32Q CNGB1_uc010cdh.2_Missense_Mutation_p.E32Q|CNGB1_uc002emu.2_Missense_Mutation_p.E32Q NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 32 Glu-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GCCTCCATCTCTGGCTCTGGT 0.637 NA 10 45 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65032724 65032724 + Silent SNP A A G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:65032724A>G uc002eoi.2 - 4 698 c.264T>C c.(262-264)ATT>ATC p.I88I CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.I88I|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Silent_p.I88I NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 88 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GAATGTATTTAATGTTCCCAT 0.408 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 7 36 0 0 0 0 NFATC3 4775 broad.mit.edu 37 16 68200760 68200760 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:68200760G>C uc002evo.1 + 5 1826 c.1616G>C c.(1615-1617)GGT>GCT p.G539A NFATC3_uc010vkl.1_Missense_Mutation_p.G60A|NFATC3_uc010vkm.1_Missense_Mutation_p.G60A|NFATC3_uc010vkn.1_Missense_Mutation_p.G60A|NFATC3_uc010vko.1_Missense_Mutation_p.G60A|NFATC3_uc010vkp.1_Missense_Mutation_p.G60A|NFATC3_uc010vkq.1_Missense_Mutation_p.G60A|NFATC3_uc002evl.2_Missense_Mutation_p.G60A|NFATC3_uc002evk.2_Missense_Mutation_p.G539A|NFATC3_uc002evm.1_Missense_Mutation_p.G539A|NFATC3_uc002evn.1_Missense_Mutation_p.G539A|NFATC3_uc010vkr.1_Missense_Mutation_p.G60A|NFATC3_uc010vks.1_Missense_Mutation_p.G60A|NFATC3_uc010vkt.1_Missense_Mutation_p.G60A|NFATC3_uc010vku.1_Missense_Mutation_p.G60A|NFATC3_uc010vkv.1_Missense_Mutation_p.G60A|NFATC3_uc010vkw.1_Missense_Mutation_p.G60A|NFATC3_uc010vkx.1_Missense_Mutation_p.G60A|NFATC3_uc010vky.1_Missense_Mutation_p.G60A|NFATC3_uc010vkz.1_Missense_Mutation_p.G60A|NFATC3_uc010vla.1_Missense_Mutation_p.G60A|NFATC3_uc010vlb.1_Missense_Mutation_p.G60A|NFATC3_uc010vlc.1_Missense_Mutation_p.G60A NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 539 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GATTGTGCAGGTATTTTGAAA 0.299 NA 7 19 0 0 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325197 77325197 + Missense_Mutation SNP A A C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:77325197A>C uc002ffc.3 - 21 3787 c.3368T>G c.(3367-3369)ATG>AGG p.M1123R NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1123 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCCAGCTACCATGTTGTACAC 0.502 NA 16 86 0 0 0 0 WFDC1 58189 broad.mit.edu 37 16 84353096 84353096 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:84353096G>A uc002fhw.2 + 4 658 c.481G>A c.(481-483)GAG>AAG p.E161K WFDC1_uc002fhv.2_Missense_Mutation_p.E161K NM_021197 NP_067020 Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 precursor 161 negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1) 1 CTCGGGCTATGAGTGCCACAT 0.667 NA 13 36 0 0 0 0 FOXL1 2300 broad.mit.edu 37 16 86612542 86612542 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:86612542G>A uc002fjr.2 + 1 428 c.213G>A c.(211-213)ACG>ACA p.T71T NM_005250 NP_005241 Q12952 FOXL1_HUMAN forkhead box L1 71 Fork-head. brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 AGAGGGTCACGCTCAACGGCA 0.642 NA 27 72 0 0 0 0 DEF8 54849 broad.mit.edu 37 16 90016035 90016035 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:90016035G>A uc002fpn.1 + 2 251 c.162G>A c.(160-162)ACG>ACA p.T54T DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 54 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CGGGCAGGACGCGGGAGGCCA 0.677 NA 10 48 0 0 0 0 ZNF232 7775 broad.mit.edu 37 17 5009153 5009153 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:5009153C>T uc002gas.2 - 5 1974 c.1220G>A c.(1219-1221)CGG>CAG p.R407Q ZNF232_uc002gar.1_Missense_Mutation_p.R425Q|ZNF232_uc002gat.2_Missense_Mutation_p.R434Q NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 407 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 ATGAACTCTCCGATGTCTAAT 0.433 NA 16 67 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) 12 16 0 0 0 0 CCL2 6347 broad.mit.edu 37 17 32583342 32583342 + Missense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:32583342C>A uc002hhy.2 + 2 251 c.178C>A c.(178-180)CCC>ACC p.P60T NM_002982 NP_002973 P13500 CCL2_HUMAN small inducible cytokine A2 precursor 60 Missing: 90% reduction in activity.|Missing: 83% reduction in activity. angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity pancreas(1) 1 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) CAGCAAGTGTCCCAAAGAAGC 0.493 NA 14 30 1.36e-06 1.46e-06 1 0 GSDMB 55876 broad.mit.edu 37 17 38073560 38073560 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:38073560C>T uc010cwj.2 - 1 15 c.10G>A c.(10-12)GTA>ATA p.V4I GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.V4I|GSDMB_uc002hth.2_Missense_Mutation_p.V4I|GSDMB_uc010wem.1_Missense_Mutation_p.V4I NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 4 cytoplasm breast(1)|pancreas(1) 2 TCCTCAAATACGCTGAACATT 0.433 NA 18 47 0 0 0 0 RPS6KB1 6198 broad.mit.edu 37 17 57990070 57990070 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:57990070G>A uc002ixy.2 + 3 320 c.217G>A c.(217-219)GAA>AAA p.E73K RPS6KB1_uc010ddj.1_Missense_Mutation_p.E73K|RPS6KB1_uc010wom.1_Missense_Mutation_p.E20K|RPS6KB1_uc010won.1_Missense_Mutation_p.E73K|RPS6KB1_uc010woo.1_Missense_Mutation_p.E8K NM_003161 NP_003152 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 73 apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity large_intestine(1) 1 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) TGAGAAATTTGAAATCTCAGA 0.373 NA 17 115 0 0 0 0 C17orf28 283987 broad.mit.edu 37 17 72959983 72959983 + Missense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:72959983C>A uc002jmj.3 - 3 388 c.239G>T c.(238-240)GGA>GTA p.G80V C17orf28_uc010wrs.1_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.G80V NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 80 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) ACTCTCAGCTCCCTGCACCAG 0.652 NA 12 32 1.16e-05 1.23e-05 1 0 EIF4A3 9775 broad.mit.edu 37 17 78120703 78120703 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:78120703C>G uc010wuc.1 - 2 131 c.58G>C c.(58-60)GAG>CAG p.E20Q EIF4A3_uc002jxs.2_Missense_Mutation_p.E20Q NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 20 mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) ATGTCTTCCTCTTTGAGCAGC 0.592 NA 5 38 0 0 0 0 RPTOR 57521 broad.mit.edu 37 17 78938109 78938109 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr17:78938109G>A uc002jyt.1 + 34 4792 c.3987G>A c.(3985-3987)TCG>TCA p.S1329S RPTOR_uc010wug.1_Silent_p.S1171S|RPTOR_uc002jyu.1_Silent_p.S222S NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 1329 WD 7. cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CCGTGTACTCGGTGGAGAAGC 0.652 NA 19 36 0 0 0 0 ADCYAP1 116 broad.mit.edu 37 18 908272 908272 + Silent SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr18:908272C>G uc010dkg.2 + 4 368 c.249C>G c.(247-249)GTC>GTG p.V83V ADCYAP1_uc010dkh.2_Silent_p.V83V NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 83 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 TTAGAGATGTCGCCCACGGGA 0.677 NA 3 20 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31325516 31325516 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr18:31325516C>G uc010dmg.1 + 12 5759 c.5704C>G c.(5704-5706)CCC>GCC p.P1902A ASXL3_uc002kxq.2_Missense_Mutation_p.P1609A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1902 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCGGCTGCTCCCCTCGTGTAG 0.498 NA 6 93 0 0 0 0 SETBP1 26040 broad.mit.edu 37 18 42529990 42529990 + Nonsense_Mutation SNP G G T rs143196787 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr18:42529990G>T uc010dni.2 + 4 981 c.685G>T c.(685-687)GGA>TGA p.G229* NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 229 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CTCTGACAGCGGACCCGTCAC 0.547 NA Schinzel-Giedion_syndrome 7 44 0.000157383 0.000164919 1 0 CXXC1 30827 broad.mit.edu 37 18 47811188 47811188 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr18:47811188C>T uc002leq.3 - 8 1667 c.934G>A c.(934-936)GAG>AAG p.E312K CXXC1_uc002lep.3_Missense_Mutation_p.E169K|CXXC1_uc002ler.3_Missense_Mutation_p.E312K|CXXC1_uc010doy.2_Missense_Mutation_p.E312K|CXXC1_uc002les.2_Missense_Mutation_p.E312K NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 312 Asp/Glu-rich (acidic). histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AATGGGGACTCTTCTGTGTCG 0.493 NA 4 18 0 0 0 0 CXXC1 30827 broad.mit.edu 37 18 47811201 47811201 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr18:47811201C>T uc002leq.3 - 8 1654 c.921G>A c.(919-921)ATG>ATA p.M307I CXXC1_uc002lep.3_Missense_Mutation_p.M164I|CXXC1_uc002ler.3_Missense_Mutation_p.M307I|CXXC1_uc010doy.2_Missense_Mutation_p.M307I|CXXC1_uc002les.2_Missense_Mutation_p.M307I NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 307 Asp/Glu-rich (acidic). histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTGTGTCGCTCATCCAGGGCT 0.527 NA 5 17 0 0 0 0 CCDC68 80323 broad.mit.edu 37 18 52571634 52571634 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr18:52571634G>A uc002lfs.2 - 12 1135 c.963C>T c.(961-963)ACC>ACT p.T321T CCDC68_uc002lft.2_Silent_p.T321T NM_001143829 NP_001137301 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 321 skin(1) 1 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AAACACCTTCGGTCTTCAATT 0.368 NA 7 23 0 0 0 0 MBD3 53615 broad.mit.edu 37 19 1581180 1581180 + Silent SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:1581180G>C uc002ltl.1 - 5 610 c.588C>G c.(586-588)CTC>CTG p.L196L MBD3_uc002ltj.2_Silent_p.L196L|MBD3_uc002ltk.2_Silent_p.L164L NM_003926 NP_003917 O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 196 transcription, DNA-dependent NuRD complex DNA binding|protein binding ovary(1)|pancreas(1)|skin(1) 3 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCGGCCGAGAGCTGTCCCG 0.652 NA 5 14 0 0 0 0 TNFSF14 8740 broad.mit.edu 37 19 6670018 6670018 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:6670018G>A uc002mfk.1 - 2 445 c.63C>T c.(61-63)TTC>TTT p.F21F TNFSF14_uc002mfj.1_Silent_p.F21F NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 21 Cytoplasmic (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CCAGCCTCGTGAATGGGATGT 0.642 NA 19 80 0 0 0 0 NDUFA7 4701 broad.mit.edu 37 19 8381382 8381382 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:8381382C>G uc002mjm.1 - 3 287 c.249G>C c.(247-249)GAG>GAC p.E83D NM_005001 NP_004992 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 83 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) ATCCTCACCTCTCTGCTGGCT 0.587 NA 15 82 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10610149 10610149 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:10610149G>A uc002moq.1 - 2 717 c.561C>T c.(559-561)ATC>ATT p.I187I KEAP1_uc002mor.1_Silent_p.I187I NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 187 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGAAGTTGGCGATGCCGATGG 0.592 NA 4 44 0 0 0 0 ZNF653 115950 broad.mit.edu 37 19 11598248 11598248 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:11598248C>T uc002mrz.1 - 4 1083 c.1030G>A c.(1030-1032)GGT>AGT p.G344S NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGGGGACACCGCTGCCTGCT 0.657 NA 26 24 0 0 0 0 SYCE2 256126 broad.mit.edu 37 19 13029104 13029104 + Missense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:13029104C>A uc002mvr.2 - 2 78 c.63G>T c.(61-63)TTG>TTT p.L21F NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 21 cell division central element 0 TGCTCTCCCCCAAGGGCTGCG 0.602 NA 13 41 1.05e-09 1.14e-09 1 0 B3GNT3 10331 broad.mit.edu 37 19 17922878 17922878 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:17922878G>A uc002nhk.1 + 3 1151 c.1066G>A c.(1066-1068)GAT>AAT p.D356N B3GNT3_uc002nhl.1_Missense_Mutation_p.D356N|B3GNT3_uc010ebd.1_Missense_Mutation_p.D356N|B3GNT3_uc010ebe.1_Missense_Mutation_p.D356N NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 356 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 GCTCATGTGGGATGCGCTGAA 0.587 NA 21 45 0 0 0 0 LSM4 25804 broad.mit.edu 37 19 18420497 18420497 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:18420497C>T uc002niq.2 - 4 490 c.319G>A c.(319-321)GCT>ACT p.A107T NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN U6 snRNA-associated Sm-like protein 4 107 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding 0 CCTCGGCCAGCGCCGCCCATG 0.682 NA 9 40 0 0 0 0 HAPLN4 404037 broad.mit.edu 37 19 19372352 19372352 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:19372352G>A uc002nmb.2 - 2 79 c.24C>T c.(22-24)CTC>CTT p.L8L HAPLN4_uc002nmc.2_Silent_p.L8L NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 8 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) CGCCGGGACCGAGGGCCGCCC 0.766 NA 4 10 0 0 0 0 C19orf47 126526 broad.mit.edu 37 19 40842076 40842076 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:40842076C>T uc002oni.3 - 4 275 c.274G>A c.(274-276)GTG>ATG p.V92M C19orf47_uc002ong.2_Translation_Start_Site|C19orf47_uc002onh.2_Missense_Mutation_p.V25M NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 92 ovary(1)|skin(1) 2 Lung(22;0.000636) ACCACGGTCACGCCCAGCTCA 0.572 NA 6 41 0 0 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260722 42260722 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:42260722C>T uc002orm.2 + 2 428 c.279C>T c.(277-279)CCC>CCT p.P93P NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 93 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CCCCAGGGCCCGCATACAGTG 0.458 NA 72 103 0 0 0 0 PSG1 5669 broad.mit.edu 37 19 43382154 43382154 + Missense_Mutation SNP C C T rs142473373 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:43382154C>T uc002ovb.2 - 2 479 c.341G>A c.(340-342)CGG>CAG p.R114Q PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.R114Q|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.R114Q|PSG1_uc010eio.1_Missense_Mutation_p.R114Q|PSG1_uc002oux.1_Missense_Mutation_p.R43Q|PSG1_uc002ouy.1_Missense_Mutation_p.R114Q|PSG1_uc002ouz.1_Missense_Mutation_p.R114Q|PSG1_uc002ova.1_Missense_Mutation_p.R114Q|PSG1_uc002ovc.2_Missense_Mutation_p.R114Q|PSG1_uc002ovd.1_Missense_Mutation_p.R114Q NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 114 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) TGCGTCCTCCCGGGTGACATT 0.453 NA 149 136 0 0 0 0 HIF3A 64344 broad.mit.edu 37 19 46832529 46832529 + Silent SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:46832529C>G uc002peh.2 + 12 1535 c.1506C>G c.(1504-1506)CTC>CTG p.L502L HIF3A_uc002peg.3_Silent_p.L502L|HIF3A_uc002pei.3_Silent_p.L446L|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Silent_p.L446L|HIF3A_uc010xxy.1_Silent_p.L433L|HIF3A_uc002pel.2_Silent_p.L500L|HIF3A_uc010xxz.1_Silent_p.L451L NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 502 NTAD.|ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ACTTCCAGCTCAACGCCAGCG 0.587 NA 17 81 0 0 0 0 NUCB1 4924 broad.mit.edu 37 19 49422529 49422529 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:49422529G>A uc002plb.3 + 10 1060 c.988G>A c.(988-990)GGG>AGG p.G330R NUCB1_uc002pla.2_Missense_Mutation_p.G330R|NUCB1_uc002plc.2_Missense_Mutation_p.G330R|NUCB1_uc002pld.2_5'UTR NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 330 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) TGGGGACACCGGGGAGGGCTG 0.577 NA 6 37 0 0 0 0 CCDC155 147872 broad.mit.edu 37 19 49910549 49910549 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:49910549C>T uc002pnm.1 + 11 1103 c.929C>T c.(928-930)TCT>TTT p.S310F CCDC155_uc010emx.1_Missense_Mutation_p.S283F NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 310 Potential. integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 ACCATCCTCTCTGAGGTAAGG 0.572 NA 3 21 0 0 0 0 NAPSA 9476 broad.mit.edu 37 19 50861932 50861932 + Missense_Mutation SNP A A T rs138846093 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:50861932A>T uc002prx.2 - 9 1194 c.1141T>A c.(1141-1143)TAT>AAT p.Y381N NR1H2_uc002prv.3_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN napsin A preproprotein 381 proteolysis extracellular region aspartic-type endopeptidase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) ACGGCCACATACGTCCCCAAG 0.677 NA 4 13 0 0 0 0 ZNF667 63934 broad.mit.edu 37 19 56953259 56953259 + Silent SNP G G T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr19:56953259G>T uc002qnd.2 - 5 1267 c.1105C>A c.(1105-1107)CGG>AGG p.R369R ZNF667_uc010etl.2_Silent_p.R151R|ZNF667_uc002qne.2_Silent_p.R369R|ZNF667_uc010etm.2_Silent_p.R312R NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 369 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GTTGAAAGCCGCCTGAAGAAC 0.378 NA 24 24 7.93e-12 8.76e-12 1 0 ASXL2 55252 broad.mit.edu 37 2 25978930 25978930 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:25978930G>A uc002rgs.2 - 9 1214 c.993C>T c.(991-993)TTC>TTT p.F331F ASXL2_uc002rgt.1_Silent_p.F71F NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGAAGTGAAGAATTCATTGT 0.453 NA 12 76 0 0 0 0 CENPA 1058 broad.mit.edu 37 2 27015013 27015013 + Nonsense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:27015013C>T uc002rhr.2 + 2 298 c.115C>T c.(115-117)CAA>TAA p.Q39* CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Nonsense_Mutation_p.Q39* NM_001809 NP_001800 P49450 CENPA_HUMAN centromere protein A isoform a 39 CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCTCCCATCAACACAGTCG 0.512 NA 7 16 0 0 0 0 CAD 790 broad.mit.edu 37 2 27463149 27463149 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:27463149G>A uc002rji.2 + 35 5675 c.5513G>A c.(5512-5514)CGC>CAC p.R1838H CAD_uc010eyw.2_Missense_Mutation_p.R1775H NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1838 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GAAAGACCCCGCCGTGGCATC 0.443 NA 15 112 0 0 0 0 SLC30A3 7781 broad.mit.edu 37 2 27480162 27480162 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:27480162C>T uc002rjk.2 - 5 823 c.637G>A c.(637-639)GAG>AAG p.E213K SLC30A3_uc002rjj.2_Silent_p.Q58Q|SLC30A3_uc010ylh.1_Missense_Mutation_p.E208K NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 213 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGCATACTCTGCTCCCCTA 0.672 NA 8 17 0 0 0 0 STRN 6801 broad.mit.edu 37 2 37078179 37078179 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:37078179C>T uc002rpn.2 - 16 2059 c.2050G>A c.(2050-2052)GAA>AAA p.E684K STRN_uc010ezx.2_Missense_Mutation_p.E647K NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 684 WD 4. dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) TGCCTGTCTTCATGAGCAGTG 0.328 NA 14 64 0 0 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656665 40656665 + Silent SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:40656665C>G uc002rrx.2 - 1 780 c.756G>C c.(754-756)GCG>GCC p.A252A SLC8A1_uc002rry.2_Silent_p.A252A|SLC8A1_uc002rrz.2_Silent_p.A252A|SLC8A1_uc002rsa.2_Silent_p.A252A|SLC8A1_uc002rsd.3_Silent_p.A252A|SLC8A1_uc002rsb.1_Silent_p.A252A|SLC8A1_uc010fan.1_Silent_p.A252A|SLC8A1_uc002rsc.1_Silent_p.A252A NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 252 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTCTCCTATCCGCTACCCAAG 0.443 NA 18 107 0 0 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739793 46739793 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:46739793C>G uc002ruy.2 - 2 1172 c.58G>C c.(58-60)GAG>CAG p.E20Q ATP6V1E2_uc002ruz.2_Missense_Mutation_p.E20Q NM_080653 NP_542384 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 20 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) GCTTCCTGCTCAATGAAAGCC 0.507 NA 10 53 0 0 0 0 MSH2 4436 broad.mit.edu 37 2 47656948 47656948 + Missense_Mutation SNP C C T rs63750496 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:47656948C>T uc002rvy.1 + 7 1212 c.1144C>T c.(1144-1146)CGT>TGT p.R382C MSH2_uc010yoh.1_Missense_Mutation_p.R316C|MSH2_uc002rvz.2_Missense_Mutation_p.R382C|MSH2_uc010fbg.2_Missense_Mutation_p.R192C NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 382 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.?(1) large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATTTACTTCGTCGATTCCC 0.328 NA D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 10 44 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530153 80530153 + Silent SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:80530153C>G uc002sok.1 - 2 1062 c.792G>C c.(790-792)TCG>TCC p.S264S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 264 LRR 8.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TCTCGTTGCCCGACAAGTCCA 0.607 NA HNSCC(69;0.2) 8 44 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530267 80530267 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:80530267G>A uc002sok.1 - 2 948 c.678C>T c.(676-678)TTC>TTT p.F226F CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 226 LRR 6.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GGAAGTGGGCGAAGTTCACCT 0.582 NA HNSCC(69;0.2) 17 87 0 0 0 0 KYNU 8942 broad.mit.edu 37 2 143798151 143798151 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:143798151G>A uc002tvl.2 + 13 1326 c.1196G>A c.(1195-1197)CGG>CAG p.R399Q KYNU_uc010fnm.2_Missense_Mutation_p.R399Q NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 399 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GTAGAGGAGCGGGGGTGCCAG 0.408 NA 9 48 0 0 0 0 RIF1 55183 broad.mit.edu 37 2 152293769 152293769 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:152293769C>T uc002txm.2 + 13 1517 c.1387C>T c.(1387-1389)CCG>TCG p.P463S RIF1_uc002txl.2_Missense_Mutation_p.P463S|RIF1_uc010fnv.1_Missense_Mutation_p.P427S|RIF1_uc002txn.2_Missense_Mutation_p.P463S|RIF1_uc002txo.2_Missense_Mutation_p.P463S|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 463 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATTGGAACATCCGTTAATCAG 0.338 NA 11 52 0 0 0 0 PLA2R1 22925 broad.mit.edu 37 2 160801458 160801458 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:160801458G>A uc002ube.1 - 28 4310 c.4103C>T c.(4102-4104)CCG>CTG p.P1368L PLA2R1_uc010zcp.1_Missense_Mutation_p.P1366L NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 1368 Extracellular (Potential).|C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TTCTTGACACGGGGATAGCTG 0.428 NA 12 92 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166856246 166856246 + Missense_Mutation SNP A A G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:166856246A>G uc010zcz.1 - 22 4310 c.4292T>C c.(4291-4293)GTT>GCT p.V1431A SCN1A_uc002udo.3_Missense_Mutation_p.V1311A|SCN1A_uc010fpk.2_Missense_Mutation_p.V1283A NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1442 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTGGAATCAACTGCTGCATA 0.308 NA 12 84 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170101321 170101321 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:170101321G>A uc002ues.2 - 22 3525 c.3312C>T c.(3310-3312)CAC>CAT p.H1104H LRP2_uc010zdf.1_Silent_p.H967H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1104 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGCAGGTGCGTGGGTGGGGC 0.537 NA 16 97 0 0 0 0 GORASP2 26003 broad.mit.edu 37 2 171806117 171806117 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:171806117C>G uc002ugk.2 + 3 353 c.213C>G c.(211-213)ATC>ATG p.I71M GORASP2_uc002ugj.2_Missense_Mutation_p.I3M|GORASP2_uc010zdl.1_Missense_Mutation_p.I83M|GORASP2_uc010zdm.1_Missense_Mutation_p.I27M|GORASP2_uc002ugl.2_Missense_Mutation_p.I3M NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 71 PDZ. Golgi membrane breast(1)|central_nervous_system(1) 2 AGATGCTTATCTATAGCAGCA 0.438 NA 9 59 0 0 0 0 HAT1 8520 broad.mit.edu 37 2 172809472 172809472 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:172809472C>T uc002uhi.2 + 4 338 c.262C>T c.(262-264)CGT>TGT p.R88C HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Missense_Mutation_p.R3C NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 88 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) AACAATGTTCCGTGTTGAATA 0.313 NA 10 45 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179403830 179403830 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:179403830C>G uc010zfg.1 - 302 91352 c.91128G>C c.(91126-91128)TGG>TGC p.W30376C uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W24071C|TTN_uc010zfi.1_Missense_Mutation_p.W24004C|TTN_uc010zfj.1_Missense_Mutation_p.W23879C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31303 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGTCTGACCCACTTGTCAG 0.498 NA 9 57 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179424911 179424911 + Missense_Mutation SNP A A G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:179424911A>G uc010zfg.1 - 275 78468 c.78244T>C c.(78244-78246)TTC>CTC p.F26082L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F19777L|TTN_uc010zfi.1_Missense_Mutation_p.F19710L|TTN_uc010zfj.1_Missense_Mutation_p.F19585L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27009 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGGTAGGAACACTGGATCT 0.463 NA 17 65 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196891589 196891589 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:196891589C>G uc002utj.3 - 7 663 c.562G>C c.(562-564)GTA>CTA p.V188L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 188 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AAATCCAGTACGTGTTCTAGC 0.353 NA 3 42 0 0 0 0 PSMD1 5707 broad.mit.edu 37 2 231947609 231947609 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:231947609G>A uc002vrn.1 + 13 1557 c.1426G>A c.(1426-1428)GGT>AGT p.G476S PSMD1_uc002vrm.1_Missense_Mutation_p.G476S|PSMD1_uc010fxu.1_Missense_Mutation_p.G340S NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 476 PC 3. 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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) CGTTAGACACGGTGGCAGTCT 0.373 NA 4 28 0 0 0 0 RAMP1 10267 broad.mit.edu 37 2 238785963 238785963 + Silent SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:238785963C>A uc002vxj.2 + 2 282 c.150C>A c.(148-150)GCC>GCA p.A50A NM_005855 NP_005846 O60894 RAMP1_HUMAN receptor activity-modifying protein 1 precursor 50 Extracellular (Potential). intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity 0 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) ACATGGAGGCCGTCGGGGAGA 0.657 NA 19 61 1.02e-10 1.11e-10 1 0 SCLY 51540 broad.mit.edu 37 2 239003069 239003069 + Silent SNP C C T rs149428035 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:239003069C>T uc010fyv.2 + 10 1078 c.1014C>T c.(1012-1014)TTC>TTT p.F338F SCLY_uc002vxm.3_Silent_p.F305F|SCLY_uc002vxn.2_3'UTR|SCLY_uc010znq.1_Silent_p.F132F|SCLY_uc010znr.1_Silent_p.F244F|SCLY_uc002vxp.3_5'Flank NM_016510 NP_057594 Q96I15 SCLY_HUMAN selenocysteine lyase 338 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity ovary(2) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) AGGCTGAATTCGGTCAGAAGA 0.448 NA 5 93 0 0 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066179 241066179 + Missense_Mutation SNP C C T rs140948790 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:241066179C>T uc002vyu.1 - 5 560 c.560G>A c.(559-561)CGG>CAG p.R187Q NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TTGGTTCTTCCGTAAACTGTT 0.483 NA 17 117 0 0 0 0 SNED1 25992 broad.mit.edu 37 2 241987826 241987826 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr2:241987826C>T uc002wah.1 + 9 1368 c.1368C>T c.(1366-1368)CCC>CCT p.P456P NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 456 EGF-like 5. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GCGAGTGCCCCGAAGGCTTCA 0.662 NA 4 9 0 0 0 0 COMMD7 149951 broad.mit.edu 37 20 31291246 31291246 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr20:31291246G>C uc002wya.3 - 9 1158 c.541C>G c.(541-543)CAG>GAG p.Q181E COMMD7_uc010ged.2_Missense_Mutation_p.Q180E|COMMD7_uc002wyb.2_3'UTR NM_053041 NP_444269 Q86VX2 COMD7_HUMAN COMM domain containing 7 isoform 1 181 COMM. negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1) 1 CTGTAGAACTGAGGCAAGGTT 0.478 NA 7 46 0 0 0 0 C20orf71 128861 broad.mit.edu 37 20 31813054 31813054 + Splice_Site SNP G G T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr20:31813054G>T uc002wyr.2 + 4 744 c.536_splice c.e4+1 p.E179_splice C20orf71_uc002wys.2_Splice_Site_p.E143_splice NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium extracellular region lipid binding ovary(1)|skin(1) 2 TCCTCACTGAGTAAGACCCCA 0.547 NA 9 84 0.00448238 0.00462043 1 0 GSS 2937 broad.mit.edu 37 20 33529522 33529522 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr20:33529522G>A uc002xbg.2 - 6 682 c.602C>T c.(601-603)TCA>TTA p.S201L GSS_uc010zun.1_Missense_Mutation_p.S73L|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Missense_Mutation_p.S132L|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Intron NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 201 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TTACTTGGGTGAGCCGTAGAG 0.483 NA 11 63 0 0 0 0 SEMG1 6406 broad.mit.edu 37 20 43836743 43836743 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr20:43836743C>G uc002xni.2 + 2 862 c.805C>G c.(805-807)CAG>GAG p.Q269E SEMG1_uc002xnj.2_Missense_Mutation_p.Q269E|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.Q269E NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 269 42 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) GAATCAACACCAGACAAAAAA 0.398 NA 9 63 0 0 0 0 BMP7 655 broad.mit.edu 37 20 55777625 55777625 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr20:55777625G>A uc010gip.1 - 3 1195 c.666C>T c.(664-666)GGC>GGT p.G222G BMP7_uc010giq.1_Silent_p.G222G|BMP7_uc002xyc.2_Silent_p.G222G NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 222 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) ACACCAGCCAGCCCTCCTCCG 0.627 NA 9 35 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41416162 41416162 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr21:41416162C>T uc002yyq.1 - 31 5678 c.5226G>A c.(5224-5226)GCG>GCA p.A1742A DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1742 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCGGTTTCTCGCTGTGGGCC 0.602 NA 8 24 0 0 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42861456 42861456 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr21:42861456G>A uc002yzj.2 - 4 437 c.303C>T c.(301-303)GCC>GCT p.A101A TMPRSS2_uc010gor.2_Silent_p.A138A|TMPRSS2_uc010gos.1_Silent_p.A101A NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 101 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GTAGGCCAGCGGCCAGCGCAG 0.592 NA T ERG|ETV1|ETV4|ETV5 prostate 14 30 0 0 0 0 ADARB1 104 broad.mit.edu 37 21 46596022 46596022 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr21:46596022G>A uc002zgy.2 + 4 841 c.406G>A c.(406-408)GAG>AAG p.E136K ADARB1_uc002zgr.2_Missense_Mutation_p.E136K|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.E136K|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.E136K|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.E185K NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 136 DRBM 1. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) CCATGCTGCTGAGAAGGCCTT 0.542 NA 9 43 0 0 0 0 PRAME 23532 broad.mit.edu 37 22 22892745 22892745 + Missense_Mutation SNP A A C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:22892745A>C uc002zwf.2 - 4 512 c.356T>G c.(355-357)CTT>CGT p.L119R LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.L103R|PRAME_uc010gtr.2_Missense_Mutation_p.L119R|PRAME_uc002zwg.2_Missense_Mutation_p.L119R|PRAME_uc002zwh.2_Missense_Mutation_p.L119R|PRAME_uc002zwi.2_Missense_Mutation_p.L119R|PRAME_uc002zwj.2_Missense_Mutation_p.L119R|PRAME_uc002zwk.2_Missense_Mutation_p.L119R NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 119 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CAGCACTTGAAGTTTCCACCT 0.438 NA 8 60 0 0 0 0 HSCB 150274 broad.mit.edu 37 22 29139936 29139936 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:29139936C>T uc003aea.2 + 2 344 c.303C>T c.(301-303)GTC>GTT p.V101V CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN J-type co-chaperone HSC20 precursor 101 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1) 1 AGCGTCTTGTCCACCCAGATT 0.483 NA 14 91 0 0 0 0 RFPL2 10739 broad.mit.edu 37 22 32586995 32586995 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:32586995G>A uc003amg.3 - 5 1837 c.901C>T c.(901-903)CGC>TGC p.R301C RFPL2_uc003ame.3_Missense_Mutation_p.R240C|RFPL2_uc003amf.3_Missense_Mutation_p.R211C|RFPL2_uc003amh.3_Missense_Mutation_p.R211C NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 301 B30.2/SPRY. zinc ion binding skin(1) 1 TGTAACTTGCGGTCTACGAAG 0.517 NA 12 38 0 0 0 0 TAB1 10454 broad.mit.edu 37 22 39826084 39826084 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:39826084G>A uc003axt.2 + 11 1421 c.1372G>A c.(1372-1374)GAC>AAC p.D458N TAB1_uc003axr.2_Missense_Mutation_p.D534N|TAB1_uc011aok.1_Missense_Mutation_p.D292N|TAB1_uc003axu.1_Intron NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 458 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 CTCCAGCTCTGACGGAGGCCT 0.627 NA 7 86 0 0 0 0 EFCAB6 64800 broad.mit.edu 37 22 44079707 44079707 + Nonsense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:44079707C>A uc003bdy.1 - 12 1386 c.1171G>T c.(1171-1173)GAA>TAA p.E391* EFCAB6_uc003bdz.1_Nonsense_Mutation_p.E239*|EFCAB6_uc010gzi.1_Nonsense_Mutation_p.E239*|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Nonsense_Mutation_p.E388* NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATGATGTTTTCCTTGTGAGAT 0.343 NA 21 91 1.28e-07 1.38e-07 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50660299 50660299 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:50660299G>A uc003bkb.1 - 16 3001 c.2489C>T c.(2488-2490)ACG>ATG p.T830M TUBGCP6_uc003bka.1_Translation_Start_Site|TUBGCP6_uc010har.1_Missense_Mutation_p.T822M|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.T26M NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 830 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCCGGAGACGTGACCTGAAA 0.622 NA 6 32 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50898068 50898068 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr22:50898068C>G uc003blh.2 - 27 3714 c.3519G>C c.(3517-3519)CAG>CAC p.Q1173H SBF1_uc011arx.1_Missense_Mutation_p.Q837H NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1173 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CCTGGACACTCTGGGGCACGA 0.701 NA 3 33 0 0 0 0 CAV3 859 broad.mit.edu 37 3 8787388 8787388 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:8787388C>T uc003bra.2 + 2 358 c.291C>T c.(289-291)TTC>TTT p.F97F C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Silent_p.F97F NM_001234 NP_001225 P56539 CAV3_HUMAN caveolin 3 97 Required for interaction with DAG1. F -> C (in LQT9; increase in late sodium current).|Missing (in HYPCK). cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity lung(1)|breast(1) 2 GCATCTCCTTCTGCCACATCT 0.582 NA 4 15 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53700551 53700551 + Missense_Mutation SNP G G A rs148674323 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:53700551G>A uc003dgv.3 + 7 1268 c.1105G>A c.(1105-1107)GTG>ATG p.V369M CACNA1D_uc003dgu.3_Missense_Mutation_p.V369M|CACNA1D_uc003dgy.3_Missense_Mutation_p.V369M|CACNA1D_uc003dgw.3_Missense_Mutation_p.V16M NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 369 Extracellular (Potential).|I. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTGGACAGATGTGCTCTACTG 0.512 NA 41 64 0 0 0 0 IFT57 55081 broad.mit.edu 37 3 107938325 107938325 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:107938325C>T uc003dwx.3 - 2 555 c.307G>A c.(307-309)GAG>AAG p.E103K NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 103 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TGAGGCTGCTCAAAGGGACGT 0.418 NA 6 82 0 0 0 0 SLC35A5 55032 broad.mit.edu 37 3 112300018 112300018 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:112300018G>C uc003dze.2 + 6 1299 c.1054G>C c.(1054-1056)GAC>CAC p.D352H NM_017945 NP_060415 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 352 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 CCTGGTCTTTGACTTCAGGCC 0.453 NA 12 86 0 0 0 0 RABL3 285282 broad.mit.edu 37 3 120424914 120424914 + Missense_Mutation SNP A A C rs151038439 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:120424914A>C uc003edx.2 - 4 346 c.316T>G c.(316-318)TTG>GTG p.L106V NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 106 Small GTPase-like. small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) CAACGACGCAAGTTTTGGGAG 0.383 NA 10 39 0 0 0 0 DTX3L 151636 broad.mit.edu 37 3 122287708 122287708 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:122287708G>C uc003efk.2 + 3 861 c.772G>C c.(772-774)GAG>CAG p.E258Q DTX3L_uc010hrj.2_Intron NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 258 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) CAACTCAATAGAGAAAAGATT 0.373 NA 3 33 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140167508 140167508 + Missense_Mutation SNP G G A rs148820533 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:140167508G>A uc003etn.2 + 6 1125 c.935G>A c.(934-936)CGG>CAG p.R312Q CLSTN2_uc003etm.2_Missense_Mutation_p.R312Q NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 312 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GGTTGTGACCGGGAGACCTAC 0.443 NA HNSCC(16;0.037) 22 236 0 0 0 0 FAM194A 131831 broad.mit.edu 37 3 150377925 150377925 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:150377925C>T uc003eyg.2 - 14 1803 c.1746G>A c.(1744-1746)GAG>GAA p.E582E FAM194A_uc003eyh.2_Silent_p.E436E NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 582 skin(2)|ovary(1) 3 GGATTGGAATCTCCTCAGGGT 0.463 NA 10 129 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 150908657 150908657 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:150908657G>A uc003eyp.2 + 13 1945 c.1907G>A c.(1906-1908)CGG>CAG p.R636Q MED12L_uc011bnz.1_Missense_Mutation_p.R496Q|MED12L_uc003eyn.2_Missense_Mutation_p.R636Q|MED12L_uc003eyo.2_Missense_Mutation_p.R636Q NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 636 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTCGGCCGCGGTCACCAGTA 0.502 NA 7 62 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151129190 151129190 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:151129190C>G uc003eyp.2 + 39 5968 c.5930C>G c.(5929-5931)TCC>TGC p.S1977C MED12L_uc011bnz.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1977 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCCGCACATTCCAACCCCGTG 0.582 NA 13 139 0 0 0 0 KCNAB1 7881 broad.mit.edu 37 3 156175266 156175266 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:156175266G>A uc003far.2 + 4 446 c.382G>A c.(382-384)GCC>ACC p.A128T KCNAB1_uc011bon.1_Missense_Mutation_p.A128T|KCNAB1_uc003fas.2_Missense_Mutation_p.A117T|KCNAB1_uc003fat.2_Missense_Mutation_p.A110T|KCNAB1_uc010hvt.1_Missense_Mutation_p.A110T|KCNAB1_uc011boo.1_Missense_Mutation_p.A4T NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 128 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GATGACCATCGCCTATGAAAG 0.473 NA 17 152 0 0 0 0 ECT2 1894 broad.mit.edu 37 3 172474799 172474799 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:172474799G>A uc003fii.2 + 4 375 c.237G>A c.(235-237)ATG>ATA p.M79I ECT2_uc010hwv.1_Missense_Mutation_p.M110I|ECT2_uc003fih.2_Missense_Mutation_p.M78I|ECT2_uc003fij.1_Missense_Mutation_p.M79I|ECT2_uc003fik.1_Missense_Mutation_p.M79I|ECT2_uc003fil.1_Missense_Mutation_p.M110I NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 79 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TTGTAAAGATGGAGTCAGTGG 0.328 NA 74 107 0 0 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198087 185198087 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:185198087G>C uc010hyf.2 + 14 2835 c.2569G>C c.(2569-2571)GAT>CAT p.D857H MAP3K13_uc011brt.1_Missense_Mutation_p.D650H|MAP3K13_uc011bru.1_Missense_Mutation_p.D713H|MAP3K13_uc003fpi.2_Missense_Mutation_p.D857H|MAP3K13_uc010hyg.2_Missense_Mutation_p.D547H NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 857 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CTCTGTGTCTGATGGAGAAGA 0.473 NA 16 141 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195481222 195481222 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr3:195481222C>T uc011bto.1 - 20 15266 c.14806G>A c.(14806-14808)GGG>AGG p.G4936R MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Missense_Mutation_p.G662R|MUC4_uc003fva.2_Missense_Mutation_p.G544R|MUC4_uc003fvb.2_Missense_Mutation_p.G580R|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Missense_Mutation_p.G580R|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Missense_Mutation_p.G544R|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Missense_Mutation_p.G628R|MUC4_uc011bti.1_Missense_Mutation_p.G628R|MUC4_uc011btj.1_Missense_Mutation_p.G805R|MUC4_uc011btk.1_Missense_Mutation_p.G544R|MUC4_uc011btl.1_Missense_Mutation_p.G573R|MUC4_uc011btm.1_Missense_Mutation_p.G753R|MUC4_uc011btn.1_Missense_Mutation_p.G544R|MUC4_uc003fvo.2_Missense_Mutation_p.G828R|MUC4_uc003fvp.2_Missense_Mutation_p.G777R NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1821 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AAGGTGCCCCCGTCACACTTG 0.652 NA 25 44 0 0 0 0 WHSC2 7469 broad.mit.edu 37 4 1985365 1985365 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:1985365G>A uc003gem.2 - 10 1633 c.1393C>T c.(1393-1395)CCC>TCC p.P465S WHSC2_uc003gek.2_Missense_Mutation_p.P191S|WHSC2_uc003gel.2_Missense_Mutation_p.P379S|WHSC2_uc003gen.2_Missense_Mutation_p.P319S NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 454 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) GCCTTCTCGGGCCGCGTGACT 0.677 NA 11 26 0 0 0 0 C4orf6 10141 broad.mit.edu 37 4 5528029 5528029 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:5528029G>A uc003gii.2 + 2 428 c.253G>A c.(253-255)GGT>AGT p.G85S NM_005750 NP_005741 Q99440 CD006_HUMAN chromosome 4 open reading frame 6 85 nervous system development 0 GACTGTCTCCGGTGCTCACTC 0.438 NA 6 40 0 0 0 0 EVC2 132884 broad.mit.edu 37 4 5624705 5624705 + Missense_Mutation SNP C C T rs144420242 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:5624705C>T uc003gij.2 - 14 2114 c.2060G>A c.(2059-2061)CGT>CAT p.R687H EVC2_uc011bwb.1_Missense_Mutation_p.R127H|EVC2_uc003gik.2_Missense_Mutation_p.R607H NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 687 Potential. integral to membrane large_intestine(3)|ovary(2) 5 CTGCTCCCTACGCTGCTCCCT 0.592 NA 10 29 0 0 0 0 C4orf50 389197 broad.mit.edu 37 4 5961120 5961120 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:5961120C>T uc003git.1 - 7 903 c.813G>A c.(811-813)CCG>CCA p.P271P NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 271 pancreas(2)|breast(1) 3 CTAACTCCAGCGGTGATTTAT 0.458 NA 16 100 0 0 0 0 CSN3 1448 broad.mit.edu 37 4 71114847 71114847 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:71114847C>G uc003hfe.3 + 4 278 c.220C>G c.(220-222)CCA>GCA p.P74A NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 74 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 AATTAATAATCCATATGTGCC 0.433 NA 8 56 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79460452 79460452 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:79460452G>A uc003hlb.2 + 73 11743 c.11303G>A c.(11302-11304)CGC>CAC p.R3768H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3763 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCCTAGGACCGCAATCAGCCA 0.438 NA 14 72 0 0 0 0 GK2 2712 broad.mit.edu 37 4 80327860 80327860 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:80327860G>A uc003hlu.2 - 1 1513 c.1495C>T c.(1495-1497)CGT>TGT p.R499C NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 499 R -> C (in Ref. 2; BAF84930). glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 GTGGCATAACGAATTTCACTT 0.478 NA 12 77 0 0 0 0 GRID2 2895 broad.mit.edu 37 4 94377124 94377124 + Missense_Mutation SNP A A C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:94377124A>C uc011cdt.1 + 11 2115 c.1857A>C c.(1855-1857)CAA>CAC p.Q619H GRID2_uc011cdu.1_Missense_Mutation_p.Q524H NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 619 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTGTACAACAAGGTAAGGAGC 0.353 NA 11 50 0 0 0 0 INTU 27152 broad.mit.edu 37 4 128627931 128627931 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:128627931G>A uc003ifk.1 + 12 2148 c.2078G>A c.(2077-2079)AGA>AAA p.R693K INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 693 ovary(1) 1 CCAACATGCAGAAGAACGCTT 0.438 NA 18 85 0 0 0 0 INTU 27152 broad.mit.edu 37 4 128628077 128628077 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:128628077G>A uc003ifk.1 + 12 2294 c.2224G>A c.(2224-2226)GAA>AAA p.E742K INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 742 ovary(1) 1 GAAGCAAAGAGAATCTCAGGG 0.473 NA 22 119 0 0 0 0 MAP9 79884 broad.mit.edu 37 4 156281422 156281422 + Missense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr4:156281422C>A uc003ios.2 - 7 1212 c.948G>T c.(946-948)AAG>AAT p.K316N MAP9_uc011cin.1_Missense_Mutation_p.K291N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K315N NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 316 Potential. cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CCGCTTTTGCCTTTTCTTCTT 0.378 NA 9 50 2.74e-10 2.99e-10 1 0 SEMA5A 9037 broad.mit.edu 37 5 9119159 9119159 + Missense_Mutation SNP T T C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:9119159T>C uc003jek.2 - 15 2588 c.1876A>G c.(1876-1878)ACT>GCT p.T626A NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 626 TSP type-1 2.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TGCCTGGGAGTGGGGTTGCTG 0.667 NA 9 38 0 0 0 0 MARCH6 10299 broad.mit.edu 37 5 10407240 10407240 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:10407240G>A uc003jet.1 + 17 1662 c.1479G>A c.(1477-1479)CTG>CTA p.L493L MARCH6_uc011cmu.1_Silent_p.L445L|MARCH6_uc003jeu.1_Silent_p.L191L|MARCH6_uc011cmv.1_Silent_p.L388L NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 493 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TTGTCCTCCTGATGCTTTGGC 0.408 NA 26 293 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23527576 23527576 + Missense_Mutation SNP T T A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:23527576T>A uc003jgo.2 + 11 2561 c.2379T>A c.(2377-2379)AGT>AGA p.S793R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 793 C2H2-type 11. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ACCTCCTCAGTCACCAGAGGA 0.562 NA HNSCC(3;0.000094) 5 154 0 0 0 0 TARS 6897 broad.mit.edu 37 5 33448677 33448677 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:33448677C>T uc003jhy.2 + 3 464 c.169C>T c.(169-171)CGT>TGT p.R57C TARS_uc011cob.1_Missense_Mutation_p.R45C|TARS_uc010iup.1_Translation_Start_Site|TARS_uc011coc.1_Missense_Mutation_p.R45C|TARS_uc003jhz.2_Intron|TARS_uc011cod.1_Translation_Start_Site NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 57 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) TATTTACACACGTCTTGAGAT 0.343 NA 8 85 0 0 0 0 SLC1A3 6507 broad.mit.edu 37 5 36686248 36686248 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:36686248G>A uc003jkj.3 + 10 1982 c.1506G>A c.(1504-1506)CTG>CTA p.L502L SLC1A3_uc011cox.1_Silent_p.L395L|SLC1A3_uc010iuy.2_Silent_p.L457L NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 502 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GACATGAACTGAAGAACAGAG 0.498 NA 20 198 0 0 0 0 C5orf42 65250 broad.mit.edu 37 5 37108457 37108457 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:37108457G>A uc011cpa.1 - 51 9586 c.9355C>T c.(9355-9357)CCC>TCC p.P3119S C5orf42_uc003jko.1_Missense_Mutation_p.P150S|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.P1637S|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.P2212S NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 3119 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATCGTCCAGGGACTCACCACA 0.423 NA 6 91 0 0 0 0 MAST4 375449 broad.mit.edu 37 5 66398375 66398375 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:66398375C>T uc003jut.1 + 8 583 c.515C>T c.(514-516)TCT>TTT p.S172F MAST4_uc003jus.2_Missense_Mutation_p.S172F|MAST4_uc003juu.1_Missense_Mutation_p.S182F|MAST4_uc011cra.1_Missense_Mutation_p.S155F|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Missense_Mutation_p.S167F|MAST4_uc003juw.2_Missense_Mutation_p.S167F NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 364 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCTGGACGTTCTCCCGCCTGC 0.373 NA 16 59 0 0 0 0 TAF9 6880 broad.mit.edu 37 5 68660814 68660814 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:68660814C>T uc003jwc.1 - 2 1083 c.751G>A c.(751-753)GAT>AAT p.D251N TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.D251N|TAF9_uc003jwe.1_Missense_Mutation_p.D251N|TAF9_uc003jwf.1_Missense_Mutation_p.D251N NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 251 Poly-Asp. histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) tcatcatcatcatcttcaCGT 0.249 NA 7 49 0 0 0 0 DMGDH 29958 broad.mit.edu 37 5 78338269 78338269 + Nonsense_Mutation SNP G G A rs143021634 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:78338269G>A uc003kfs.2 - 7 1036 c.1030C>T c.(1030-1032)CGA>TGA p.R344* DMGDH_uc011cte.1_Nonsense_Mutation_p.R194*|DMGDH_uc011ctf.1_Nonsense_Mutation_p.R143*|DMGDH_uc011ctg.1_Intron NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 344 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TCCATGATTCGATCTAGATCA 0.423 NA 11 64 0 0 0 0 LNPEP 4012 broad.mit.edu 37 5 96314937 96314937 + Missense_Mutation SNP C C G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:96314937C>G uc003kmv.1 + 2 629 c.115C>G c.(115-117)CTA>GTA p.L39V LNPEP_uc003kmw.1_Missense_Mutation_p.L25V NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 39 Cytoplasmic (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TTTACATCCTCTAGAGCCTGA 0.498 NA 11 74 0 0 0 0 FSTL4 23105 broad.mit.edu 37 5 132652228 132652228 + Missense_Mutation SNP G G A rs139711882 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:132652228G>A uc003kyn.1 - 5 744 c.526C>T c.(526-528)CGC>TGC p.R176C NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 176 EF-hand. extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCAGGAGGCGCTTCTGGGAG 0.587 NA OREG0016777 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 38 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769023 140769023 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:140769023C>T uc003lkc.1 + 1 1572 c.1572C>T c.(1570-1572)CGC>CGT p.R524R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.R524R NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 524 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAGCTGCGCGCCTTCGAAC 0.672 NA 21 39 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769043 140769043 + Missense_Mutation SNP A A T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:140769043A>T uc003lkc.1 + 1 1592 c.1592A>T c.(1591-1593)CAG>CTG p.Q531L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.Q531L NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 531 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACACTGCAGGCCCGCGAC 0.677 NA 18 31 0 0 0 0 TTC1 7265 broad.mit.edu 37 5 159437549 159437549 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:159437549C>T uc003lxu.2 + 2 64 c.14C>T c.(13-15)TCA>TTA p.S5L NM_003314 NP_003305 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 5 protein folding unfolded protein binding skin(1) 1 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) GGGGAGAAGTCAGAGAACTGT 0.463 NA 7 44 0 0 0 0 OR2H2 7932 broad.mit.edu 37 6 29556072 29556072 + Silent SNP T T C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:29556072T>C uc003nmr.1 + 1 390 c.351T>C c.(349-351)GCT>GCC p.A117A GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 117 Helical; Name=3; (Potential). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGTGATGGCTTTTGATCGCT 0.587 NA 3 86 0 0 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499521 34499521 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:34499521C>T uc003ojo.2 + 9 1388 c.1182C>T c.(1180-1182)TAC>TAT p.Y394Y PACSIN1_uc003ojp.2_Silent_p.Y394Y NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 394 SH3. endocytosis protein kinase activity 0 GGGCACTCTACGACTATGACG 0.647 NA 30 135 0 0 0 0 ZNF76 7629 broad.mit.edu 37 6 35260716 35260716 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:35260716G>A uc003oki.1 + 11 1429 c.1224G>A c.(1222-1224)TCG>TCA p.S408S ZNF76_uc003okj.1_Silent_p.S408S NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 408 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTACCTTTCGGAGGTGAAGG 0.612 NA 55 55 0 0 0 0 CPNE5 57699 broad.mit.edu 37 6 36714277 36714277 + Missense_Mutation SNP C C T rs150078502 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:36714277C>T uc003omr.1 - 16 1163 c.1096G>A c.(1096-1098)GTC>ATC p.V366I CPNE5_uc003omp.1_Missense_Mutation_p.V74I|CPNE5_uc010jwn.1_Missense_Mutation_p.V16I|CPNE5_uc003omq.1_Missense_Mutation_p.V16I NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 366 VWFA. skin(1) 1 ATCTCTCCGACGGCAGTCAGC 0.622 NA 4 59 0 0 0 0 ZNF292 23036 broad.mit.edu 37 6 87966228 87966228 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:87966228G>A uc003plm.3 + 8 2922 c.2881G>A c.(2881-2883)GGC>AGC p.G961S NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 961 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AACTGTGGAAGGCAGTGGTGA 0.428 NA 18 47 0 0 0 0 C6orf165 154313 broad.mit.edu 37 6 88126412 88126412 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:88126412G>A uc003plv.2 + 6 590 c.498G>A c.(496-498)CAG>CAA p.Q166Q C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.Q166Q NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 166 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTTTTCCTCAGGCAGAGCTTG 0.338 NA 25 12 0 0 0 0 GOPC 57120 broad.mit.edu 37 6 117890830 117890830 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:117890830C>T uc003pxu.2 - 7 1212 c.982G>A c.(982-984)GGA>AGA p.G328R GOPC_uc003pxq.1_Missense_Mutation_p.G101R|DCBLD1_uc003pxs.2_3'UTR|GOPC_uc003pxv.2_Missense_Mutation_p.G320R NM_020399 NP_065132 Q9HD26 GOPC_HUMAN golgi associated PDZ and coiled-coil motif 328 PDZ. apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle cystic fibrosis transmembrane conductance regulator binding ovary(1) 1 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TGCAGCCCTCCGCATCTATCA 0.458 NA O ROS1 glioblastoma 31 96 0 0 0 0 EYA4 2070 broad.mit.edu 37 6 133783571 133783571 + Missense_Mutation SNP C C A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:133783571C>A uc003qec.3 + 8 994 c.536C>A c.(535-537)ACA>AAA p.T179K EYA4_uc011ecq.1_Missense_Mutation_p.T125K|EYA4_uc011ecr.1_Missense_Mutation_p.T125K|EYA4_uc003qed.3_Missense_Mutation_p.T179K|EYA4_uc003qee.3_Missense_Mutation_p.T156K|EYA4_uc011ecs.1_Missense_Mutation_p.T179K|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 179 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GCCGTCTACACAGCCTACTCA 0.507 NA 9 55 0.000274275 0.000286353 1 0 SDK1 221935 broad.mit.edu 37 7 4272924 4272924 + Silent SNP G G A rs144472783 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:4272924G>A uc003smx.2 + 41 6004 c.5865G>A c.(5863-5865)CCG>CCA p.P1955P SDK1_uc010kso.2_Silent_p.P1211P|SDK1_uc003smy.2_Silent_p.P442P|SDK1_uc003smz.2_Silent_p.P15P NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1955 Fibronectin type-III 13. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGGACATCCCGCGGAGCGCCA 0.597 NA 10 50 0 0 0 0 C7orf31 136895 broad.mit.edu 37 7 25175685 25175685 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:25175685G>A uc003sxn.1 - 10 2240 c.1679C>T c.(1678-1680)TCA>TTA p.S560L C7orf31_uc003sxm.1_Missense_Mutation_p.S402L NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 560 0 TTCTAGAATTGATTTATGGAA 0.403 NA 16 83 0 0 0 0 STARD3NL 83930 broad.mit.edu 37 7 38259205 38259205 + Missense_Mutation SNP T T G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:38259205T>G uc003tfr.2 + 7 741 c.593T>G c.(592-594)CTT>CGT p.L198R STARD3NL_uc003tfs.2_Missense_Mutation_p.L198R|STARD3NL_uc003tft.2_Missense_Mutation_p.L180R NM_032016 NP_114405 O95772 MENTO_HUMAN MLN64 N-terminal homolog 198 Cytoplasmic (Potential).|MENTAL. integral to membrane|late endosome membrane ovary(1) 1 AGGGCAGCACTTATACCTGGT 0.418 NA 8 84 0 0 0 0 MYL7 58498 broad.mit.edu 37 7 44179945 44179945 + Missense_Mutation SNP G G A rs142668114 TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:44179945G>A uc003tkg.2 - 4 287 c.275C>T c.(274-276)ACG>ATG p.T92M NM_021223 NP_067046 Q01449 MLRA_HUMAN myosin light chain 2a 92 actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity 0 CCCAAAGAGCGTGAGGAAGAC 0.527 NA 10 71 0 0 0 0 CCT6A 908 broad.mit.edu 37 7 56124052 56124052 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:56124052G>C uc003trl.1 + 5 723 c.559G>C c.(559-561)GAT>CAT p.D187H PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D142H|CCT6A_uc011kcu.1_Missense_Mutation_p.D156H NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 187 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGAACCTATTGATCTCTTCAT 0.343 NA 10 68 0 0 0 0 SLC25A40 55972 broad.mit.edu 37 7 87476268 87476268 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:87476268G>A uc003uje.2 - 8 978 c.627C>T c.(625-627)TTC>TTT p.F209F NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 209 Helical; Name=4; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) TCCTACCTGAGAAAGGTACAT 0.378 NA 11 56 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92136441 92136441 + Splice_Site SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:92136441C>T uc003uly.2 - 10 1767 c.1671_splice c.e10-1 p.G557_splice PEX1_uc011khr.1_Splice_Site_p.G349_splice|PEX1_uc010ley.2_Splice_Site_p.G557_splice|PEX1_uc011khs.1_Splice_Site_p.G235_splice|PEX1_uc011kht.1_Splice_Site NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ATTCACTCCTCTGTAAAAAAT 0.403 NA 4 21 0 0 0 0 COG5 10466 broad.mit.edu 37 7 107053006 107053006 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:107053006C>T uc003ved.2 - 7 1228 c.703G>A c.(703-705)GCC>ACC p.A235T COG5_uc003vec.2_Missense_Mutation_p.A235T|COG5_uc003vee.2_Missense_Mutation_p.A235T NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 235 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 TCAAGTCGGGCTCTTGCAATA 0.328 NA 18 51 0 0 0 0 WNT16 51384 broad.mit.edu 37 7 120979112 120979112 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:120979112G>C uc003vjw.2 + 4 1068 c.811G>C c.(811-813)GAA>CAA p.E271Q WNT16_uc003vjv.2_Missense_Mutation_p.E261Q|WNT16_uc010lkl.2_Missense_Mutation_p.E55Q NM_057168 NP_476509 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, 271 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity lung(2)|ovary(2)|large_intestine(1) 5 all_neural(327;0.117) GCGCAGGAGAGAAAAAGATCA 0.368 NA 6 24 0 0 0 0 PRKAG2 51422 broad.mit.edu 37 7 151261269 151261269 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:151261269C>T uc003wkk.2 - 14 2090 c.1479G>A c.(1477-1479)ACG>ACA p.T493T PRKAG2_uc003wki.2_Silent_p.T252T|PRKAG2_uc011kvl.1_Silent_p.T368T|PRKAG2_uc003wkj.2_Silent_p.T449T|PRKAG2_uc003wkl.2_Silent_p.T41T NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 493 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CCTGGGTCACCGTGATATCTA 0.398 NA 5 91 0 0 0 0 SFTPC 6440 broad.mit.edu 37 8 22019379 22019379 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr8:22019379C>T uc003xax.3 + 1 196 c.38C>T c.(37-39)CCG>CTG p.P13L SFTPC_uc003xaw.3_Missense_Mutation_p.P62L|SFTPC_uc011kza.1_Missense_Mutation_p.P13L|SFTPC_uc003xaz.2_Missense_Mutation_p.P13L|SFTPC_uc003xay.3_Missense_Mutation_p.P13L NM_003018 NP_003009 P11686 PSPC_HUMAN surfactant protein C precursor 13 respiratory gaseous exchange extracellular space 0 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) ATGGAGAGCCCGCCGgtgagt 0.433 NA 13 53 0 0 0 0 SLC39A14 23516 broad.mit.edu 37 8 22266000 22266000 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr8:22266000G>A uc003xbq.3 + 3 623 c.448G>A c.(448-450)GCT>ACT p.A150T SLC39A14_uc011kzg.1_Missense_Mutation_p.A150T|SLC39A14_uc003xbp.3_Missense_Mutation_p.A150T|SLC39A14_uc011kzh.1_Missense_Mutation_p.A150T NM_001128431 NP_001121903 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), 150 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity 0 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GCGGCCAAGCGCTGTTGAAGG 0.642 NA 4 19 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48798673 48798673 + Silent SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr8:48798673C>T uc003xqi.2 - 37 4665 c.4608G>A c.(4606-4608)GCG>GCA p.A1536A PRKDC_uc003xqj.2_Silent_p.A1536A|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1536 Interaction with C1D.|Leucine-zipper. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGGACAGCACCGCTGGGTTCA 0.527 NA NHEJ 17 23 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56436657 56436657 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr8:56436657G>C uc003xsf.2 + 3 1856 c.1824G>C c.(1822-1824)GAG>GAC p.E608D NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 608 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CAGCATGGGAGAGACATGTTT 0.488 NA 7 28 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61765187 61765187 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr8:61765187G>A uc003xue.2 + 30 6502 c.6025G>A c.(6025-6027)GAG>AAG p.E2009K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2009 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAATCTGATGAGAGTTTGGA 0.438 NA 9 22 0 0 0 0 KIFC2 90990 broad.mit.edu 37 8 145698053 145698053 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr8:145698053C>T uc003zcz.2 + 16 1890 c.1825C>T c.(1825-1827)CGC>TGC p.R609C KIFC2_uc003zda.2_5'UTR NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 609 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCTGACGCTGCGCGCGGCGTC 0.721 NA 4 27 0 0 0 0 PHF2 5253 broad.mit.edu 37 9 96435940 96435940 + Missense_Mutation SNP G G A rs145764244 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr9:96435940G>A uc004aub.2 + 18 2569 c.2422G>A c.(2422-2424)GAC>AAC p.D808N PHF2_uc011lug.1_Missense_Mutation_p.D691N|PHF2_uc004auc.2_Missense_Mutation_p.D228N NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 808 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GCAGGCCTCCGACTCCTGCCT 0.667 NA 8 55 0 0 0 0 GSN 2934 broad.mit.edu 37 9 124073041 124073041 + Missense_Mutation SNP G G A rs144099356 by1000genomes TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr9:124073041G>A uc004blf.1 + 4 645 c.584G>A c.(583-585)CGG>CAG p.R195Q GSN_uc004bld.1_Missense_Mutation_p.R144Q|GSN_uc010mvq.1_Missense_Mutation_p.R155Q|GSN_uc010mvr.1_Missense_Mutation_p.R155Q|GSN_uc010mvu.1_Missense_Mutation_p.R144Q|GSN_uc010mvt.1_Missense_Mutation_p.R144Q|GSN_uc010mvs.1_Missense_Mutation_p.R144Q|GSN_uc004ble.1_Missense_Mutation_p.R144Q|GSN_uc010mvv.1_Missense_Mutation_p.R144Q|GSN_uc011lyh.1_Missense_Mutation_p.R161Q|GSN_uc011lyi.1_Missense_Mutation_p.R144Q|GSN_uc011lyj.1_Missense_Mutation_p.R168Q|GSN_uc004blg.1_5'Flank NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 195 Polyphosphoinositide binding (By similarity). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 GTCAAAGGGCGGCGTGTGGTC 0.587 NA 8 47 0 0 0 0 FCN2 2220 broad.mit.edu 37 9 137779204 137779204 + Silent SNP G G A rs150154280 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr9:137779204G>A uc004cfg.1 + 8 895 c.885G>A c.(883-885)TCG>TCA p.S295S FCN2_uc004cfh.1_Silent_p.S257S NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 295 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) ACTGGAAGTCGGGGAAAGGAT 0.537 NA 45 16 0 0 0 0 KIAA0649 9858 broad.mit.edu 37 9 138376726 138376726 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr9:138376726G>C uc004cfr.1 + 4 919 c.370G>C c.(370-372)GAC>CAC p.D124H NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 124 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) GCTAGATTCAGACAGTGATGA 0.612 NA 71 49 0 0 0 0 SHROOM2 357 broad.mit.edu 37 X 9863269 9863269 + Missense_Mutation SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chrX:9863269G>A uc004csu.1 + 4 1411 c.1321G>A c.(1321-1323)GAC>AAC p.D441N NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 441 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CCTCTGTGCTGACAGCCTTGG 0.652 NA 18 16 0 0 0 0 SCML2 10389 broad.mit.edu 37 X 18283829 18283829 + Missense_Mutation SNP A A G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chrX:18283829A>G uc004cyl.2 - 8 981 c.824T>C c.(823-825)TTA>TCA p.L275S SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.L275S|SCML2_uc011miz.1_Missense_Mutation_p.L209S|SCML2_uc010nfc.2_Missense_Mutation_p.L11S NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 275 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) CTGTGTTGGTAATATTAGAGT 0.418 NA 13 27 0 0 0 0 CXorf58 254158 broad.mit.edu 37 X 23928433 23928433 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chrX:23928433C>T uc004daz.1 + 2 358 c.14C>T c.(13-15)TCA>TTA p.S5L APOO_uc004dax.2_5'Flank|APOO_uc004day.3_5'Flank|CXorf58_uc011mju.1_Missense_Mutation_p.S5L NM_152761 NP_689974 Q96LI9 CX058_HUMAN hypothetical protein LOC254158 5 0 AATCGTTCCTCAAATGTACCA 0.348 NA 7 10 0 0 0 0 BRS3 680 broad.mit.edu 37 X 135572633 135572633 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chrX:135572633C>T uc004ezv.1 + 2 925 c.776C>T c.(775-777)GCC>GTC p.A259V NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 259 Cytoplasmic (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) CAAAGCCATGCCCGTAAGCAG 0.388 NA 3 42 0 0 0 0 AFF2 2334 broad.mit.edu 37 X 147924495 147924495 + Silent SNP G G A rs149177157 byFrequency TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chrX:147924495G>A uc004fcp.2 + 6 1658 c.1179G>A c.(1177-1179)TCG>TCA p.S393S AFF2_uc004fco.2_Silent_p.S360S|AFF2_uc004fcq.2_Silent_p.S389S|AFF2_uc004fcr.2_Silent_p.S360S|AFF2_uc011mxb.1_Silent_p.S364S|AFF2_uc004fcs.2_Silent_p.S360S|AFF2_uc011mxc.1_Silent_p.S34S NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 393 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TATAGGAATCGCAGCATCTGA 0.333 NA 41 23 0 0 0 0 TARBP1 6894 broad.mit.edu 37 1 234565343 234565358 + Frame_Shift_Del DEL GAGAGGCACACCCATT GAGAGGCACACCCATT - TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr1:234565343_234565358delGAGAGGCACACCCATT uc001hwd.2 - 16 2675_2690 c.2675_2690delAATGGGTGTGCCTCTC c.(2674-2691)CAATGGGTGTGCCTCTCTfs p.Q892fs NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 892_897 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity p.W893*(1) ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CAACAGGAAAGAGAGGCACACCCATTGATCATGAAT 0.398 NA 7 73 --- --- --- --- NA NA NA NA PRICKLE1 144165 broad.mit.edu 37 12 42853994 42854008 + In_Frame_Del DEL TGTACAGCCGCAGTC TGTACAGCCGCAGTC - TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr12:42853994_42854008delTGTACAGCCGCAGTC uc010skv.1 - 8 2386_2400 c.2099_2113delGACTGCGGCTGTACA c.(2098-2115)AGACTGCGGCTGTACACC>ACC p.RLRLY700del PRICKLE1_uc001rnl.2_In_Frame_Del_p.RLRLY700del|PRICKLE1_uc010skw.1_In_Frame_Del_p.RLRLY700del|PRICKLE1_uc001rnm.2_In_Frame_Del_p.RLRLY700del|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 700_704 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TTATCGGGGGTGTACAGCCGCAGTCTGTCCTTGGG 0.502 NA 9 88 --- --- --- --- NA NA NA NA HYDIN 54768 broad.mit.edu 37 16 70952161 70952162 + Frame_Shift_Ins INS - - T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr16:70952161_70952162insT uc002ezr.2 - 47 8081_8082 c.7953_7954insA c.(7951-7956)AAAGAAfs p.K2651fs NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2652_2653 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATTTCCATTTCTTTTTTTTCAT 0.45 NA 2 4 --- --- --- --- NA NA NA NA FAM53C 51307 broad.mit.edu 37 5 137680780 137680781 + Frame_Shift_Ins INS - - G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr5:137680780_137680781insG uc003lcv.2 + 4 873_874 c.403_404insG c.(403-405)CGGfs p.R135fs FAM53C_uc003lcw.2_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 135 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCGGTGTGGCGGCCCGCCCCC 0.683 NA 8 118 --- --- --- --- NA NA NA NA STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr6:31939825_31939826insG uc003nyv.2 + 1 180_181 c.52_53insG c.(52-54)CGGfs p.R18fs DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN serine/threonine kinase 19 isoform 2 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(4) 4 GCGACAGTGGCGGGCAAACCCC 0.634 NA 7 155 --- --- --- --- NA NA NA NA TNRC18 84629 broad.mit.edu 37 7 5401259 5401259 + Frame_Shift_Del DEL G G - TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a52dc15f-d06d-46ed-a73e-aa004a2a736a f32b53d5-28b2-4d09-bff7-af5bca3d3e33 g.chr7:5401259delG uc003soi.3 - 14 4976 c.4627delC c.(4627-4629)CGCfs p.R1543fs NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1543 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCTCTCTTGCGGGGGGGCGAC 0.692 NA 2 4 --- --- --- --- NA NA NA NA