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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut NPPB 4879 broad.mit.edu 37 1 11918520 11918520 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:11918520G>A uc001atj.2 - 2 241 c.139C>T c.(139-141)CGC>TGC p.R47C NM_002521 NP_002512 P16860 ANFB_HUMAN natriuretic peptide precursor B preproprotein 47 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) AAATGGTTGCGCTGCTCCTGC 0.637 NA 7 17 0 0 0.001984 0 0 SPEN 23013 broad.mit.edu 37 1 16262465 16262465 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:16262465A>C uc001axk.1 + 11 9934 c.9730A>C c.(9730-9732)ACC>CCC p.T3244P SPEN_uc010obp.1_Missense_Mutation_p.T3203P NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3244 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGCTgcccccacccccacccc 0.418 NA 5 13 0 0 0.006122 0 0 MST1P9 11223 broad.mit.edu 37 1 17085872 17085872 + Missense_Mutation SNP A A G rs1806514 by1000genomes TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:17085872A>G uc010ock.1 - 8 949 c.949T>C c.(949-951)TGG>CGG p.W317R CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TCGAGGTTCCAGCAGAAGTTC 0.662 NA 4 24 0 0 0.009096 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069381 29069381 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:29069381C>T uc001brc.2 + 4 1096 c.599C>T c.(598-600)GCA>GTA p.A200V YTHDF2_uc001brd.2_Missense_Mutation_p.A197V|YTHDF2_uc010ofx.1_Missense_Mutation_p.A150V|YTHDF2_uc001bre.2_Missense_Mutation_p.A150V NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 200 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) ACAGAAGTTGCAAGCAATGTT 0.483 NA 4 26 0 0 0.000602 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237928 33237928 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:33237928C>T uc001bvv.2 + 6 3107 c.2971C>T c.(2971-2973)CCT>TCT p.P991S KIAA1522_uc001bvu.1_Missense_Mutation_p.P1050S|KIAA1522_uc010ohm.1_Missense_Mutation_p.P1002S|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 991 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCTTACTGCTCCTCCCACCAA 0.652 NA 19 79 0 0 0.00278 0 0 TMEM59 9528 broad.mit.edu 37 1 54509117 54509117 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:54509117C>A uc001cwp.2 - 4 722 c.472G>T c.(472-474)GCA>TCA p.A158S TMEM59_uc001cwn.2_Missense_Mutation_p.A21S|TMEM59_uc001cwo.2_Missense_Mutation_p.A21S|TMEM59_uc001cwq.2_Missense_Mutation_p.A158S|TMEM59_uc001cwr.2_Missense_Mutation_p.A91S|TMEM59_uc001cws.1_Missense_Mutation_p.A169S NM_004872 NP_004863 Q9BXS4 TMM59_HUMAN thymic dendritic cell-derived factor 1 158 Extracellular (Potential). Golgi membrane|integral to membrane 0 AAGCTCTGTGCGGAGTCCATC 0.393 NA 9 70 2.17888e-05 2.56099e-05 0.006214 1 0 USP1 7398 broad.mit.edu 37 1 62908936 62908936 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:62908936A>G uc001daj.1 + 5 831 c.503A>G c.(502-504)GAG>GGG p.E168G USP1_uc001dak.1_Missense_Mutation_p.E168G|USP1_uc001dal.1_Missense_Mutation_p.E168G NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 168 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TTAAATCCAGAGAAATATACT 0.368 Ovarian(122;1846 2315 3982 19504) NA 4 49 0 0 0.000602 0 0 C1orf173 127254 broad.mit.edu 37 1 75038164 75038164 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:75038164C>T uc001dgg.2 - 14 3449 c.3230G>A c.(3229-3231)AGA>AAA p.R1077K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1077 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CACCTCTTCTCTCTCAGAGTC 0.408 NA 6 168 0 0 0.001984 0 0 FNBP1L 54874 broad.mit.edu 37 1 93998552 93998552 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:93998552G>A uc001dpw.2 + 8 713 c.713G>A c.(712-714)CGC>CAC p.R238H FNBP1L_uc001dpv.2_Missense_Mutation_p.R238H|FNBP1L_uc010otk.1_Missense_Mutation_p.R58H NM_001024948 NP_001020119 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like isoform 1 238 Induction of membrane tubulation (By similarity). endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) GACTCAGAACGCAAAGTTATT 0.323 NA 3 66 0 0 0.004672 0 0 WARS2 10352 broad.mit.edu 37 1 119575957 119575957 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:119575957T>A uc001ehn.2 - 6 688 c.660A>T c.(658-660)CTA>CTT p.L220L WARS2_uc010oxf.1_Silent_p.L126L|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.L163L|WARS2_uc010oxh.1_Missense_Mutation_p.T192S NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 220 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AAGGATCACGTAGGGATTTTA 0.428 NA 41 152 0 0 0.01441 0 0 LCE3E 353145 broad.mit.edu 37 1 152538434 152538434 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:152538434C>A uc001faa.2 - 2 307 c.251G>T c.(250-252)TGC>TTC p.C84F NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 84 keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) ACCGTGGCAGCAGCCAGAGCC 0.617 NA 36 129 1.57019e-19 2.26886e-19 0.007835 1 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:153907309C>T uc001fdd.1 - 18 3101 c.2700G>A c.(2698-2700)CAG>CAA p.Q900Q uc001fdc.1_RNA NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.468 NA 4 69 0 0 0.009096 0 0 PYGO2 90780 broad.mit.edu 37 1 154931485 154931485 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:154931485C>T uc001fft.2 - 3 1197 c.991G>A c.(991-993)GGT>AGT p.G331S PBXIP1_uc001ffr.2_5'Flank|PBXIP1_uc001ffs.2_5'Flank|PBXIP1_uc010pep.1_5'Flank NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 331 PHD-type. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CGACAGGCACCACATGGGTAC 0.642 NSCLC(87;357 1460 1955 21029 23522) NA 7 51 0 0 0.004482 0 0 CD1A 909 broad.mit.edu 37 1 158225793 158225793 + Splice_Site SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:158225793G>C uc001frt.2 + 3 859 c.326_splice c.e3-1 p.Y109_splice NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CATAACCCCAGATCCTTTTGA 0.423 NA 6 101 0 0 0.001984 0 0 OR6K2 81448 broad.mit.edu 37 1 158670335 158670335 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:158670335A>T uc001fsu.1 - 1 108 c.108T>A c.(106-108)GCT>GCA p.A36A NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CAACAATGAAAGCATAGATGA 0.448 NA 10 87 0 0 0.006214 0 0 GLUL 2752 broad.mit.edu 37 1 182355392 182355392 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:182355392C>T uc001gpa.1 - 4 686 c.474G>A c.(472-474)CAG>CAA p.Q158Q GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Silent_p.Q158Q|GLUL_uc001gpc.1_Silent_p.Q158Q|GLUL_uc001gpd.1_Silent_p.Q158Q NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 158 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GAGACTTACCCTGGGGCCCTG 0.552 NA 26 94 0 0 0.004656 0 0 FAM5C 339479 broad.mit.edu 37 1 190234090 190234090 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:190234090C>A uc001gse.1 - 4 755 c.523G>T c.(523-525)GAG>TAG p.E175* FAM5C_uc010pot.1_Nonsense_Mutation_p.E73* NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 175 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGTAGCGTCTCCAGAGTGACC 0.483 NA 8 103 0.000157383 0.000179622 0.00308 1 0 CR1 1378 broad.mit.edu 37 1 207790041 207790041 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:207790041G>A uc001hfy.2 + 33 5573 c.5433G>A c.(5431-5433)ATG>ATA p.M1811I CR1_uc001hfx.2_Missense_Mutation_p.M2261I NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1811 Sushi 28.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 ACAGAGGGATGACCTTCAACC 0.522 NA 84 127 0 0 0.01441 0 0 PROX1 5629 broad.mit.edu 37 1 214169983 214169983 + Silent SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:214169983T>C uc001hkh.2 + 2 377 c.105T>C c.(103-105)GCT>GCC p.A35A PROX1_uc001hkg.1_Silent_p.A35A NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 35 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CATTTTTTGCTAAGGCAAGAG 0.478 NA 6 82 0 0 0.001168 0 0 USH2A 7399 broad.mit.edu 37 1 216380727 216380727 + Silent SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:216380727A>C uc001hku.1 - 16 3591 c.3204T>G c.(3202-3204)TCT>TCG p.S1068S USH2A_uc001hkv.2_Silent_p.S1068S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1068 Extracellular (Potential).|Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATTGATAGCAGAAGAACTTT 0.418 NA HNSCC(13;0.011) 7 120 0 0 0.004482 0 0 ACTA1 58 broad.mit.edu 37 1 229567839 229567839 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:229567839G>A uc001htm.2 - 5 815 c.710C>T c.(709-711)TCC>TTC p.S237F NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 237 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CTTTTCCAGGGAGGAGGAGGA 0.637 NA 3 24 0 0 0.004672 0 0 OR2L2 26246 broad.mit.edu 37 1 248202245 248202245 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248202245C>G uc001idw.2 + 1 772 c.676C>G c.(676-678)CGC>GGC p.R226G OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGCTGTCTACCGCATGCACTC 0.488 NA 23 191 0 0 0.003954 0 0 OR2M5 127059 broad.mit.edu 37 1 248308491 248308491 + Silent SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248308491C>G uc010pze.1 + 1 42 c.42C>G c.(40-42)CTC>CTG p.L14L NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTTCATCCTCCTGGGAATCT 0.438 NA 36 288 0 0 0.01441 0 0 OR2M2 391194 broad.mit.edu 37 1 248344224 248344224 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248344224G>T uc010pzf.1 + 1 937 c.937G>T c.(937-939)GAG>TAG p.E313* NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTCTGAGAGTGAGTTACCTCA 0.388 NA 24 263 1.85244e-09 2.43133e-09 0.00333 1 0 OR2M3 127062 broad.mit.edu 37 1 248366612 248366612 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248366612G>T uc010pzg.1 + 1 243 c.243G>T c.(241-243)ATG>ATT p.M81I NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACCCAAGATGGCCTTCAACT 0.512 NA 138 312 1.27947e-65 1.9011e-65 0.01441 1 0 OR2M3 127062 broad.mit.edu 37 1 248367064 248367064 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248367064A>T uc010pzg.1 + 1 695 c.695A>T c.(694-696)GAG>GTG p.E232V NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGATCTGGAGAGGGTCGTCGC 0.448 NA 6 365 0 0 0.001984 0 0 OR2T12 127064 broad.mit.edu 37 1 248458039 248458039 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr1:248458039G>C uc010pzj.1 - 1 842 c.842C>G c.(841-843)CCT>CGT p.P281R NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTAGTAAAGGGGTGAACAT 0.458 NA 4 176 0 0 0.000602 0 0 IL2RA 3559 broad.mit.edu 37 10 6067883 6067883 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:6067883C>G uc001iiz.1 - 2 329 c.170G>C c.(169-171)AGA>ACA p.R57T IL2RA_uc009xih.1_Missense_Mutation_p.R57T|IL2RA_uc001ija.1_Missense_Mutation_p.R19T NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 57 Sushi 1.|Extracellular (Potential). cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GCTTTTTATTCTGCGGAAACC 0.498 NA 4 83 0 0 0.009096 0 0 CUBN 8029 broad.mit.edu 37 10 16967685 16967685 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:16967685C>A uc001ioo.2 - 42 6412 c.6360G>T c.(6358-6360)TGG>TGT p.W2120C NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2120 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAGGACGTGCCAAGAACAGT 0.502 NA 15 64 1.67942e-08 2.15925e-08 0.006122 1 0 CUBN 8029 broad.mit.edu 37 10 17110211 17110211 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:17110211G>T uc001ioo.2 - 21 2912 c.2860C>A c.(2860-2862)CAC>AAC p.H954N NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 954 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGATACCGTGGGGGTAGACA 0.368 NA 16 185 5.01169e-05 5.8254e-05 0.00499 1 0 GPR158 57512 broad.mit.edu 37 10 25885651 25885651 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:25885651G>T uc001isj.2 + 10 2138 c.2078G>T c.(2077-2079)GGA>GTA p.G693V GPR158_uc001isk.2_Missense_Mutation_p.G68V NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 693 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGCCGATCTGGATCCTACCTG 0.438 NA 4 81 0.00024832 0.000280361 0.009096 1 0 NRP1 8829 broad.mit.edu 37 10 33502610 33502610 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:33502610C>G uc001iwx.3 - 9 1841 c.1318G>C c.(1318-1320)GGA>CGA p.G440R NRP1_uc001iwv.3_Missense_Mutation_p.G440R|NRP1_uc009xlz.2_Missense_Mutation_p.G440R|NRP1_uc001iww.3_Missense_Mutation_p.G259R|NRP1_uc001iwy.3_Missense_Mutation_p.G440R|NRP1_uc001iwz.2_Missense_Mutation_p.G440R|NRP1_uc001ixa.2_Missense_Mutation_p.G440R|NRP1_uc001ixb.1_Missense_Mutation_p.G440R|NRP1_uc001ixc.1_Missense_Mutation_p.G440R NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 440 Extracellular (Potential).|F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GAAATAAGTCCAGACACCATA 0.458 Melanoma(104;886 1489 44640 45944 51153) NA 12 82 0 0 0.00245 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43691988 43691988 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:43691988C>T uc001jap.1 - 12 1438 c.1357G>A c.(1357-1359)GTC>ATC p.V453I RASGEF1A_uc001jao.1_Missense_Mutation_p.V461I NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 453 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AAGGAGGCGACGAAGAGAGCT 0.562 NA 10 110 0 0 0.008291 0 0 ZNF487 642819 broad.mit.edu 37 10 43971290 43971290 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:43971290C>T uc010qfb.1 + 2 259 c.32C>T c.(31-33)TCA>TTA p.S11L NR_026693 SubName: Full=cDNA FLJ52643, weakly similar to Zinc finger protein 11B; 0 CTCCTCCTCTCAGTGGGTAAG 0.458 NA 4 17 0 0 0.009096 0 0 PRKG1 5592 broad.mit.edu 37 10 52912943 52912944 + Missense_Mutation DNP GA GA AT TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:52912943_52912944GA>AT uc001jjm.2 + 2 480_481 c.286_287GA>AT c.(286-288)GAA>ATA p.E96I PRKG1_uc001jjn.2_Missense_Mutation_p.E111I|PRKG1_uc001jjo.2_Missense_Mutation_p.E111I|PRKG1_uc010qhp.1_Missense_Mutation_p.E96I NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 96 Dimerization. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCTTATAAAGGAAGCTATCCTT 0.455 NA 42 103 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55755468 55755468 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:55755468G>T uc001jju.1 - 21 3204 c.2809C>A c.(2809-2811)CCG>ACG p.P937T PCDH15_uc010qhq.1_Missense_Mutation_p.P942T|PCDH15_uc010qhr.1_Missense_Mutation_p.P937T|PCDH15_uc010qhs.1_Missense_Mutation_p.P949T|PCDH15_uc010qht.1_Missense_Mutation_p.P944T|PCDH15_uc010qhu.1_Missense_Mutation_p.P937T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P937T|PCDH15_uc010qhw.1_Missense_Mutation_p.P900T|PCDH15_uc010qhx.1_Missense_Mutation_p.P866T|PCDH15_uc010qhy.1_Missense_Mutation_p.P942T|PCDH15_uc010qhz.1_Missense_Mutation_p.P937T|PCDH15_uc010qia.1_Missense_Mutation_p.P915T|PCDH15_uc010qib.1_Missense_Mutation_p.P915T|PCDH15_uc001jjw.2_Missense_Mutation_p.P937T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 937 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACTGCATCCGGAGCCACCATC 0.398 NA HNSCC(58;0.16) 12 86 1.08611e-07 1.35763e-07 0.010729 1 0 ANXA7 310 broad.mit.edu 37 10 75147496 75147496 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:75147496T>C uc001jtz.2 - 8 723 c.650A>G c.(649-651)AAT>AGT p.N217S ANXA7_uc001jua.2_Missense_Mutation_p.N195S|ANXA7_uc001jub.2_Missense_Mutation_p.N155S|ANXA7_uc010qki.1_Missense_Mutation_p.N105S|ANXA7_uc009xre.2_Missense_Mutation_p.N124S|ANXA7_uc009xrf.1_Missense_Mutation_p.N137S NM_004034 NP_004025 P20073 ANXA7_HUMAN annexin VII isoform 2 217 Annexin 1. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) CCTCTGATCATTGGAACGGTT 0.463 NA 51 148 0 0 0.01441 0 0 SEC24C 9632 broad.mit.edu 37 10 75510968 75510968 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:75510968A>C uc001juw.2 + 4 454 c.275A>C c.(274-276)CAG>CCG p.Q92P SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Intron|SEC24C_uc001jux.2_Missense_Mutation_p.Q92P|SEC24C_uc010qko.1_Intron|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 92 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) GGAGATGTACAGAATGGGCCA 0.448 NA 4 44 0 0 0.009096 0 0 BTAF1 9044 broad.mit.edu 37 10 93757446 93757446 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:93757446G>C uc001khr.2 + 25 3696 c.3598G>C c.(3598-3600)GAC>CAC p.D1200H NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1200 HEAT 8. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TGATCAGACAGACAGTGTGAG 0.378 NA 11 86 0 0 0.010729 0 0 MKI67 4288 broad.mit.edu 37 10 129913773 129913773 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:129913773C>A uc001lke.2 - 7 1094 c.899G>T c.(898-900)GGC>GTC p.G300V MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 300 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CACAGCGTGGCCGCTCCCACC 0.532 NA 5 67 2.0095e-06 2.43458e-06 0.001984 1 0 MGMT 4255 broad.mit.edu 37 10 131334541 131334541 + Missense_Mutation SNP C C T rs141095230 byFrequency TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr10:131334541C>T uc001lkh.2 + 2 144 c.118C>T c.(118-120)CGC>TGC p.R40C NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 9 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) TGAAATGAAACGCACCACACT 0.458 NA Direct_reversal_of_damage 25 76 0 0 0.009535 0 0 ANO9 338440 broad.mit.edu 37 11 418979 418979 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:418979C>A uc001lpi.2 - 21 2030 c.1945G>T c.(1945-1947)GGC>TGC p.G649C SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.G342C|ANO9_uc010qvv.1_Missense_Mutation_p.G505C NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 649 Extracellular (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 TTGACGTAGCCCTTGAGGCAG 0.617 NA 7 148 8.12818e-05 9.41315e-05 0.001984 1 0 MUC6 4588 broad.mit.edu 37 11 1018718 1018718 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:1018718G>A uc001lsw.2 - 31 4134 c.4083C>T c.(4081-4083)GGC>GGT p.G1361G NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1361 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGACGTGGGCCTGTCGTCT 0.542 NA 13 118 0 0 0.001855 0 0 MUC5B 727897 broad.mit.edu 37 11 1155162 1155162 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:1155162C>A uc009ycr.1 + 4 296 c.170C>A c.(169-171)GCG>GAG p.A57E NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCGTGGGGCGACTGTCTTC 0.672 NA 6 23 0.000157383 0.000179622 0.00308 1 0 IGF2 3481 broad.mit.edu 37 11 2154748 2154748 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:2154748G>A uc009yde.2 - 3 408 c.305C>T c.(304-306)CCG>CTG p.P102L IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.P102L|IGF2_uc009ydf.2_Missense_Mutation_p.P158L|IGF2_uc001lvh.2_Missense_Mutation_p.P102L|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 102 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GACCCTCACCGGAAGCACGGT 0.642 NA 4 27 0 0 0.009096 0 0 CD81 975 broad.mit.edu 37 11 2398821 2398821 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:2398821C>T uc001lwf.1 + 1 275 c.42C>T c.(40-42)CTC>CTT p.L14L uc001lwe.2_RNA NM_004356 NP_004347 P60033 CD81_HUMAN CD81 antigen 14 Helical; (Potential). activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTACCTGCTCTTCGTCTTCA 0.463 NA 9 29 0 0 0.008291 0 0 ZNF195 7748 broad.mit.edu 37 11 3380678 3380678 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:3380678C>T uc001lxt.2 - 6 1738 c.1560G>A c.(1558-1560)AAG>AAA p.K520K uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.K497K|ZNF195_uc001lxs.2_Silent_p.K448K|ZNF195_uc010qxr.1_Silent_p.K501K|ZNF195_uc009ydz.2_Silent_p.K475K|ZNF195_uc001lxu.2_Silent_p.K452K NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGCTTCTCTCCAG 0.403 NA 5 194 0 0 0.000602 0 0 OR52M1 119772 broad.mit.edu 37 11 4566498 4566498 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:4566498C>G uc010qyf.1 + 1 78 c.78C>G c.(76-78)CAC>CAG p.H26Q NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCCTACACGTCTGGCTCT 0.537 NA 4 86 0 0 0.001168 0 0 OR52A5 390054 broad.mit.edu 37 11 5153137 5153137 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:5153137C>T uc010qyx.1 - 1 736 c.736G>A c.(736-738)GCC>ACC p.A246T NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAATGTGGGCAATGCATGTA 0.398 NA 18 66 0 0 0.007413 0 0 NLRP10 338322 broad.mit.edu 37 11 7981425 7981425 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:7981425A>T uc001mfv.1 - 2 1751 c.1734T>A c.(1732-1734)GGT>GGA p.G578G NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 578 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCATCTGAATACCTTTTACCA 0.343 NA 8 33 0 0 0.004482 0 0 CKAP5 9793 broad.mit.edu 37 11 46831310 46831310 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:46831310C>A uc001ndi.1 - 6 855 c.745G>T c.(745-747)GGT>TGT p.G249C CKAP5_uc009ylg.1_Missense_Mutation_p.G135C|CKAP5_uc001ndj.1_Missense_Mutation_p.G249C NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 249 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GCATCTCCACCAGCAGACTGT 0.428 Ovarian(4;85 273 2202 4844 13323) NA 41 218 1.93748e-29 2.86529e-29 0.01441 1 0 AGBL2 79841 broad.mit.edu 37 11 47681733 47681733 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:47681733A>G uc001ngg.2 - 18 2801 c.2701T>C c.(2701-2703)TAC>CAC p.Y901H AGBL2_uc001ngf.2_RNA NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 901 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 ACCTACGGGTATGTGTATATG 0.512 NA 19 63 0 0 0.010504 0 0 OR4X2 119764 broad.mit.edu 37 11 48266905 48266905 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:48266905A>G uc001ngs.1 + 1 250 c.250A>G c.(250-252)ATA>GTA p.I84V NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAGGAAAGTCATATCTTGGTG 0.502 NA 11 124 0 0 0.010729 0 0 OR4A15 81328 broad.mit.edu 37 11 55136267 55136267 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:55136267T>A uc010rif.1 + 1 908 c.908T>A c.(907-909)CTA>CAA p.L303Q NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 303 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACTGTAGTTCTAACTTTTATA 0.383 NA 54 216 0 0 0.01441 0 0 OR5I1 10798 broad.mit.edu 37 11 55703101 55703101 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:55703101A>C uc010ris.1 - 1 776 c.776T>G c.(775-777)TTT>TGT p.F259C NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 259 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAGTAAATAAAGAGGAGAGT 0.433 NA 5 29 0 0 0.001168 0 0 OR7E5P 219445 broad.mit.edu 37 11 55747330 55747330 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:55747330C>A uc010riu.1 - 4 682 c.127G>T c.(127-129)GCC>TCC p.A43S NR_027688 SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor; 0 GGGACCGTGGCCGAGGTGAAA 0.532 NA 7 27 0.000157383 0.000179622 0.00308 1 0 FCHSD2 9873 broad.mit.edu 37 11 72712069 72712069 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:72712069G>A uc009ytl.2 - 5 574 c.353C>T c.(352-354)ACA>ATA p.T118I FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Missense_Mutation_p.T62I|FCHSD2_uc001oti.2_Missense_Mutation_p.T77I NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 118 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) GCTTCTCACTGTCCTTGCAGG 0.363 NA 6 20 0 0 0.001168 0 0 FZD4 8322 broad.mit.edu 37 11 86662523 86662523 + Silent SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:86662523T>G uc001pce.2 - 2 1581 c.1275A>C c.(1273-1275)ACA>ACC p.T425T PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 425 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGTCTGTCTTTGTCCCATCCT 0.413 NA 27 109 0 0 0.004656 0 0 TYR 7299 broad.mit.edu 37 11 88911689 88911689 + Missense_Mutation SNP G G A rs61754361 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:88911689G>A uc001pcs.2 + 1 650 c.568G>A c.(568-570)GGG>AGG p.G190R NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 190 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGCACTGCTTGGGGGATCTGA 0.423 NA Oculocutaneous_Albinism 13 147 0 0 0.00245 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335702 117335702 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:117335702G>A uc001prh.1 - 17 3403 c.3401C>T c.(3400-3402)ACG>ATG p.T1134M NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1074 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGAGGGCCCCGTGCCAGCCCG 0.622 NA 10 73 0 0 0.010729 0 0 OR8B3 390271 broad.mit.edu 37 11 124266624 124266624 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:124266624C>A uc010saj.1 - 1 624 c.624G>T c.(622-624)ATG>ATT p.M208I OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AACTGGGTACCATGATATTAA 0.418 NA 4 173 0.00909568 0.00974537 0.009096 1 0 SIAE 54414 broad.mit.edu 37 11 124509640 124509640 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr11:124509640T>C uc001qan.2 - 8 1203 c.1090A>G c.(1090-1092)ATG>GTG p.M364V NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 364 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) CAGAGATCCATAGCTACAGCC 0.468 NA 14 131 0 0 0.003163 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662435 662435 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:662435A>T uc001qii.1 + 14 1346 c.1346A>T c.(1345-1347)AAT>ATT p.N449I B4GALNT3_uc001qij.1_Missense_Mutation_p.N352I|B4GALNT3_uc001qik.1_5'UTR NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 449 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AACAACCAGAATGCCAGGATG 0.547 NA 28 188 0 0 0.007291 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1955760 1955760 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:1955760C>T uc001qjp.2 - 24 2573 c.2342G>A c.(2341-2343)AGG>AAG p.R781K CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.R645K|CACNA2D4_uc009zdr.1_RNA NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 781 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCAACCCACCTGTCGGAGAC 0.662 Colon(2;101 179 21030 23310 28141) NA 3 14 0 0 0.009096 0 0 VWF 7450 broad.mit.edu 37 12 6103686 6103686 + Silent SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:6103686T>G uc001qnn.1 - 36 6401 c.6151A>C c.(6151-6153)AGA>CGA p.R2051R VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2051 VWFD 4. 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) TGATTGAATCTGACCTCATGC 0.473 NA 23 129 0 0 0.00333 0 0 PRB3 5544 broad.mit.edu 37 12 11421043 11421043 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:11421043G>A uc001qzs.2 - 3 178 c.140C>T c.(139-141)CCC>CTC p.P47L PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 47 Pro-rich. PQRTPPP -> SQGPPPR (in Ref. 1; CAA30728). extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGTACGTTGGGGCTGGTTTCC 0.572 NA 16 219 0 0 0.003163 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061538 13061538 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:13061538C>T uc001rba.2 + 2 1005 c.355C>T c.(355-357)CTG>TTG p.L119L GPRC5A_uc001raz.2_Silent_p.L119L NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 119 Cytoplasmic (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGCTGTCAGTCTGACCAAGCT 0.567 NA 6 259 0 0 0.001168 0 0 LST-3TM12 338821 broad.mit.edu 37 12 21196312 21196312 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:21196312T>C uc010sin.1 + 6 631 c.631T>C c.(631-633)TGG>CGG p.W211R SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.W258R NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 211 membrane transporter activity 0 GGTTGGAGCTTGGTGGCTTGG 0.373 NA 32 152 0 0 0.006999 0 0 ITPR2 3709 broad.mit.edu 37 12 26807047 26807047 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:26807047C>A uc001rhg.2 - 21 3019 c.2602G>T c.(2602-2604)GCT>TCT p.A868S NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 868 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AGATTCCGAGCCAAGTGGACC 0.368 NA 13 44 2.68362e-12 3.74044e-12 0.013537 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43846373 43846373 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:43846373T>G uc010skx.1 - 13 1886 c.1886A>C c.(1885-1887)CAT>CCT p.H629P NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 629 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATGTCCAAATGTTTACCATT 0.408 NA 15 37 0 0 0.00499 0 0 PRPF40B 25766 broad.mit.edu 37 12 50029039 50029039 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:50029039C>A uc001rur.1 + 12 1157 c.1093C>A c.(1093-1095)CGC>AGC p.R365S PRPF40B_uc001rup.1_Missense_Mutation_p.R387S|PRPF40B_uc001ruq.1_Missense_Mutation_p.R359S|PRPF40B_uc001rus.1_Missense_Mutation_p.R308S NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 365 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CTCCACCACCCGCTACCGGTC 0.592 NA 27 49 3.17567e-06 3.80356e-06 0.008361 1 0 OR6C76 390326 broad.mit.edu 37 12 55820504 55820504 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:55820504C>G uc010spm.1 + 1 467 c.467C>G c.(466-468)CCA>CGA p.P156R NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATTTTTCCACCACTGGCCATG 0.443 NA 7 124 0 0 0.00308 0 0 IL23A 51561 broad.mit.edu 37 12 56733603 56733603 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:56733603C>T uc001sla.2 + 3 556 c.390C>T c.(388-390)GGC>GGT p.G130G NM_016584 NP_057668 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 precursor 130 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity 0 CCCTACTGGGCCTCAGCCAAC 0.542 NA 10 88 0 0 0.008291 0 0 GEFT 115557 broad.mit.edu 37 12 58008537 58008537 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:58008537G>T uc001spb.2 + 9 1342 c.882G>T c.(880-882)CGG>CGT p.R294R GEFT_uc009zpy.2_Silent_p.R333R|GEFT_uc001soz.1_Silent_p.R168R|GEFT_uc001spa.2_Silent_p.R188R|uc001spc.2_Intron|GEFT_uc001spd.2_5'UTR NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 294 Important for binding to Rho GTPases.|DH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) CTGTGCAGCGGATCATGAAAT 0.602 NA 11 17 2.80697e-09 3.66887e-09 0.010729 1 0 RAB3IP 117177 broad.mit.edu 37 12 70149282 70149282 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:70149282G>A uc001svp.2 + 2 589 c.142G>A c.(142-144)GAG>AAG p.E48K RAB3IP_uc001svl.1_Missense_Mutation_p.E32K|RAB3IP_uc001svm.2_Missense_Mutation_p.E32K|RAB3IP_uc001svn.2_Missense_Mutation_p.E32K|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.E48K|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 48 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGGAACTCAAGAGCAGACTAC 0.458 NA 11 244 0 0 0.010729 0 0 RAB3IP 117177 broad.mit.edu 37 12 70150234 70150234 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:70150234G>A uc001svp.2 + 3 796 c.349G>A c.(349-351)GGA>AGA p.G117R RAB3IP_uc001svl.1_Missense_Mutation_p.G101R|RAB3IP_uc001svm.2_Missense_Mutation_p.G101R|RAB3IP_uc001svn.2_Missense_Mutation_p.G101R|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.G117R|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 117 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGTCACAGCTGGATTAACTAA 0.408 NA 17 284 0 0 0.004007 0 0 ERP29 10961 broad.mit.edu 37 12 112460060 112460060 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr12:112460060C>T uc001ttk.1 + 3 508 c.390C>T c.(388-390)GTC>GTT p.V130V ERP29_uc001ttl.1_3'UTR NM_006817 NP_006808 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 isoform 1 130 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity 0 AGAACCCAGTCCCATACACTG 0.552 NA 4 34 0 0 0.009096 0 0 BRCA2 675 broad.mit.edu 37 13 32914937 32914937 + Missense_Mutation SNP A A G rs80359592 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:32914937A>G uc001uub.1 + 11 6672 c.6445A>G c.(6445-6447)ATT>GTT p.I2149V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2149 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAATCACTCTATTAAAGTTTC 0.318 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 4 24 0 0 0.001168 0 0 LHFP 10186 broad.mit.edu 37 13 40175151 40175151 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:40175151C>T uc001uxf.2 - 2 714 c.203G>A c.(202-204)TGT>TAT p.C68Y NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 68 integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) ATAGCGCCCACATTCCTCCAC 0.602 NA T HMGA2 lipoma 45 160 0 0 0.01441 0 0 DGKH 160851 broad.mit.edu 37 13 42795487 42795487 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:42795487T>C uc001uyl.1 + 29 3551 c.3530T>C c.(3529-3531)ATC>ACC p.I1177T DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.I1032T|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.I1032T|DGKH_uc001uyp.2_Intron NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 1177 SAM. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CGTCATGACATCAGAGGGGCT 0.413 NA 13 115 0 0 0.00245 0 0 FAM155A 728215 broad.mit.edu 37 13 107862936 107862936 + Silent SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr13:107862936A>G uc001vql.2 - 2 1599 c.1083T>C c.(1081-1083)TGT>TGC p.C361C NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 361 integral to membrane binding skin(1) 1 CTGTACCTGTACAGATGAAAC 0.458 NA 7 48 0 0 0.004482 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216160 20216160 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:20216160G>T uc010tkt.1 + 1 574 c.574G>T c.(574-576)GAC>TAC p.D192Y NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCTGCATGGACACCTATGT 0.488 NA 8 102 3.09899e-07 3.82816e-07 0.004482 1 0 AKAP6 9472 broad.mit.edu 37 14 33016066 33016066 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:33016066A>T uc001wrq.2 + 4 2377 c.2207A>T c.(2206-2208)TAT>TTT p.Y736F AKAP6_uc010aml.2_Missense_Mutation_p.Y733F NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 736 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATGAAAAAGTATGCTGATGAG 0.443 Melanoma(49;821 1200 7288 13647 42351) NA 9 89 0 0 0.004482 0 0 MIA2 117153 broad.mit.edu 37 14 39721990 39721990 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:39721990G>A uc001wux.2 + 5 1800 c.1606G>A c.(1606-1608)GAA>AAA p.E536K NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 145 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GAGAATTCACGAAGAAGTATA 0.378 NA 10 141 0 0 0.001855 0 0 FSCB 84075 broad.mit.edu 37 14 44975456 44975456 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:44975456T>G uc001wvn.2 - 1 1044 c.735A>C c.(733-735)GAA>GAC p.E245D NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 245 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CAGCAGAACCTTCTTGTACAA 0.413 NA 10 148 0 0 0.006214 0 0 KLHL28 54813 broad.mit.edu 37 14 45414803 45414803 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45414803G>A uc001wvq.2 - 2 575 c.329C>T c.(328-330)CCA>CTA p.P110L KLHL28_uc001wvr.2_Missense_Mutation_p.P110L|KLHL28_uc001wvt.3_Missense_Mutation_p.P110L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 110 ovary(1) 1 GTTTGCTGCTGGCAGGAGAGA 0.408 NA 4 140 0 0 0.008871 0 0 KLHL28 54813 broad.mit.edu 37 14 45414807 45414807 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45414807G>A uc001wvq.2 - 2 571 c.325C>T c.(325-327)CTG>TTG p.L109L KLHL28_uc001wvr.2_Silent_p.L109L|KLHL28_uc001wvt.3_Silent_p.L109L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 109 ovary(1) 1 GCTGCTGGCAGGAGAGATTCA 0.418 NA 5 145 0 0 0.012319 0 0 KLHL28 54813 broad.mit.edu 37 14 45414812 45414812 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45414812G>A uc001wvq.2 - 2 566 c.320C>T c.(319-321)TCT>TTT p.S107F KLHL28_uc001wvr.2_Missense_Mutation_p.S107F|KLHL28_uc001wvt.3_Missense_Mutation_p.S107F NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 107 ovary(1) 1 TGGCAGGAGAGATTCAACTGT 0.413 NA 5 147 0 0 0.014323 0 0 KLHL28 54813 broad.mit.edu 37 14 45415021 45415021 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45415021G>A uc001wvq.2 - 2 357 c.111C>T c.(109-111)ATC>ATT p.I37I KLHL28_uc001wvr.2_Silent_p.I37I|KLHL28_uc001wvt.3_Silent_p.I37I NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 37 BTB. ovary(1) 1 CTCGAAGAATGATGTCACAGA 0.443 NA 18 120 0 0 0.007413 0 0 KLHL28 54813 broad.mit.edu 37 14 45415118 45415118 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45415118G>A uc001wvq.2 - 2 260 c.14C>T c.(13-15)TCC>TTC p.S5F KLHL28_uc001wvr.2_Missense_Mutation_p.S5F|KLHL28_uc001wvt.3_Missense_Mutation_p.S5F NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 5 ovary(1) 1 GTAGGTCGGGGATGTGTGGTC 0.378 NA 19 91 0 0 0.006122 0 0 KLHL28 54813 broad.mit.edu 37 14 45415125 45415125 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45415125G>A uc001wvq.2 - 2 253 c.7C>T c.(7-9)CAC>TAC p.H3Y KLHL28_uc001wvr.2_Missense_Mutation_p.H3Y|KLHL28_uc001wvt.3_Missense_Mutation_p.H3Y NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 3 ovary(1) 1 GGGGATGTGTGGTCCATCTAC 0.373 NA 19 87 0 0 0.007413 0 0 FANCM 57697 broad.mit.edu 37 14 45633573 45633573 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:45633573G>T uc001wwd.3 + 10 1692 c.1593G>T c.(1591-1593)CAG>CAT p.Q531H FANCM_uc001wwc.2_Missense_Mutation_p.Q531H|FANCM_uc010anf.2_Missense_Mutation_p.Q505H|FANCM_uc001wwe.3_Intron NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 531 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TAGTGAAACAGTTTCGTGACG 0.353 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 23 68 2.44723e-14 3.44142e-14 0.004656 1 0 PPIL5 122769 broad.mit.edu 37 14 50081137 50081137 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:50081137G>T uc001wwn.2 + 4 1492 c.1168G>T c.(1168-1170)GGT>TGT p.G390C SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_3'UTR|PPIL5_uc010ank.2_Missense_Mutation_p.G331C|PPIL5_uc001wwp.2_RNA NM_152329 NP_689542 Q96L50 LLR1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 5 390 0 all_epithelial(31;0.0021)|Breast(41;0.0124) AGATAATTTGGGTGGTACTGA 0.373 NA 3 72 0.004672 0.00507476 0.004672 1 0 BMP4 652 broad.mit.edu 37 14 54417079 54417079 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:54417079G>A uc001xal.3 - 3 1085 c.898C>T c.(898-900)CGG>TGG p.R300W BMP4_uc010aoh.2_Missense_Mutation_p.R300W|BMP4_uc001xao.3_Missense_Mutation_p.R300W|BMP4_uc001xan.3_Missense_Mutation_p.R300W NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 300 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 TTCCTGGCCCGCTGTGAGTGA 0.627 NA 3 44 0 0 0.004672 0 0 DAAM1 23002 broad.mit.edu 37 14 59835440 59835440 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:59835440G>T uc001xdz.1 + 26 3225 c.3100G>T c.(3100-3102)GAT>TAT p.D1034Y DAAM1_uc001xea.1_Missense_Mutation_p.D1024Y|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 1034 DAD. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) CGGAGAGTTTGATGACCTTGT 0.388 NA 4 67 0.00909568 0.00974537 0.009096 1 0 ALDH6A1 4329 broad.mit.edu 37 14 74533589 74533589 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr14:74533589C>T uc001xpo.2 - 9 1142 c.1043G>A c.(1042-1044)GGA>GAA p.G348E C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.G193E|ALDH6A1_uc010tuq.1_Missense_Mutation_p.G335E NM_005589 NP_005580 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6A1 precursor 348 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) AGGCTGATCTCCTGTAAAACA 0.368 NA 10 23 0 0 0.008291 0 0 GABRB3 2562 broad.mit.edu 37 15 26825499 26825499 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:26825499G>T uc001zaz.2 - 6 791 c.649C>A c.(649-651)CGT>AGT p.R217S GABRB3_uc010uae.1_Missense_Mutation_p.R132S|GABRB3_uc001zba.2_Missense_Mutation_p.R217S|GABRB3_uc001zbb.2_Missense_Mutation_p.R273S NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 217 Extracellular (Probable). R -> H (in insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors; current deactivation is faster in the mutated receptors). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAGACCAGACGGTGCTCCACG 0.562 NA 15 85 5.03518e-11 6.89601e-11 0.007413 1 0 GABRB3 2562 broad.mit.edu 37 15 26825521 26825521 + Silent SNP C C A rs146431931 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:26825521C>A uc001zaz.2 - 6 769 c.627G>T c.(625-627)CCG>CCT p.P209P GABRB3_uc010uae.1_Silent_p.P124P|GABRB3_uc001zba.2_Silent_p.P209P|GABRB3_uc001zbb.2_Silent_p.P265P NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 209 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGAGAACTGCGGGAGCTCAA 0.562 NA 15 82 0.000219431 0.000249534 0.00245 1 0 GABRB3 2562 broad.mit.edu 37 15 26866463 26866463 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:26866463G>A uc001zaz.2 - 4 601 c.459C>T c.(457-459)CTC>CTT p.L153L GABRB3_uc010uae.1_Silent_p.L68L|GABRB3_uc001zba.2_Silent_p.L153L|GABRB3_uc001zbb.2_Silent_p.L209L|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 153 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACACAGACCTGAGCCCATACA 0.438 NA 13 64 0 0 0.00245 0 0 FMN1 342184 broad.mit.edu 37 15 33359339 33359339 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:33359339C>A uc001zhf.3 - 1 747 c.747G>T c.(745-747)CAG>CAT p.Q249H FMN1_uc001zhg.2_Missense_Mutation_p.Q249H NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CACTCGAATTCTGGTTTGTTA 0.512 NA 11 89 2.27111e-07 2.81653e-07 0.013537 1 0 RPAP1 26015 broad.mit.edu 37 15 41829206 41829206 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:41829206C>A uc001zod.2 - 2 242 c.118G>T c.(118-120)GGT>TGT p.G40C NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 40 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCATCACCACCGCCCCTATTT 0.587 NA 11 127 7.03913e-09 9.12479e-09 0.013537 1 0 C15orf42 90381 broad.mit.edu 37 15 90168095 90168095 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:90168095T>A uc002boe.2 + 20 4554 c.4554T>A c.(4552-4554)CCT>CCA p.P1518P C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1518 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTGGCTCTCCTCTGATGCCTT 0.577 NA 57 54 0 0 0.01441 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100649223 100649223 + Missense_Mutation SNP T T C rs76569625 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr15:100649223T>C uc002bvv.1 - 14 2066 c.1987A>G c.(1987-1989)ACT>GCT p.T663A ADAMTS17_uc002bvx.1_Missense_Mutation_p.T420A NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 663 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CAGAGATCAGTCTCGTAGGGC 0.617 NA 25 65 0 0 0.00632 0 0 ERCC4 2072 broad.mit.edu 37 16 14015970 14015970 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr16:14015970G>T uc002dce.2 + 2 299 c.290G>T c.(289-291)CGC>CTC p.R97L ERCC4_uc010bva.2_Missense_Mutation_p.R97L NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 97 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 AGCAACAGTCGCTATGAAGTT 0.373 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 6 39 2.0095e-06 2.43458e-06 0.001984 1 0 Unknown 0 broad.mit.edu 37 16 90161578 90161578 + Silent SNP G G A rs13337896 by1000genomes TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr16:90161578G>A uc002fqp.2 + 3 931 c.453G>A c.(451-453)ACG>ACA p.T151T uc002fqq.2_Silent_p.T168T Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. NA GCCAAGGGACGCTACACCGAA 0.587 NA 3 54 0 0 0.004672 0 0 CLDN7 1366 broad.mit.edu 37 17 7163726 7163726 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:7163726G>A uc002gfm.3 - 4 1036 c.603C>T c.(601-603)TAC>TAT p.Y201Y CLDN7_uc010cmc.2_3'UTR|CLDN7_uc002gfn.3_Silent_p.Y201Y NM_001307 NP_001298 O95471 CLD7_HUMAN claudin 7 201 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 TGGACTTAGGGTAAGAGCGGG 0.592 NA 11 84 0 0 0.001855 0 0 Unknown 0 broad.mit.edu 37 17 21731278 21731278 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:21731278G>T uc002gyy.3 + 2 705 c.580G>T c.(580-582)GGC>TGC p.G194C SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GATCAGCAGAGGCTCATCTTT 0.547 NA 8 65 1.12685e-05 1.33443e-05 0.004482 1 0 PIGW 284098 broad.mit.edu 37 17 34894132 34894132 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:34894132T>A uc002hmy.1 + 2 1225 c.1182T>A c.(1180-1182)ATT>ATA p.I394I MYO19_uc010wcy.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.I394I NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 394 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGATATAATTTTGAGTTTTG 0.343 NA 10 54 0 0 0.008291 0 0 KRT40 125115 broad.mit.edu 37 17 39135199 39135199 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:39135199G>A uc010cxh.1 - 8 1214 c.1053C>T c.(1051-1053)ATC>ATT p.I351I KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 351 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00043) CCAGGTTATCGATCAGACACT 0.547 NA 4 152 0 0 0.001168 0 0 DNAJC7 7266 broad.mit.edu 37 17 40139846 40139846 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:40139846C>A uc002hyo.2 - 9 1238 c.1001G>T c.(1000-1002)AGA>ATA p.R334I DNAJC7_uc010cxu.2_Missense_Mutation_p.R278I|DNAJC7_uc010cxv.2_Missense_Mutation_p.R278I|DNAJC7_uc010wgb.1_Missense_Mutation_p.R278I|DNAJC7_uc010wgc.1_Missense_Mutation_p.R192I|DNAJC7_uc002hyp.2_Missense_Mutation_p.R278I|DNAJC7_uc010cxw.2_RNA NM_003315 NP_003306 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 334 TPR 9. chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding ovary(1) 1 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) CCACTGAGCTCTTCTCAAGTA 0.478 Colon(63;618 1117 8600 10857 19751) NA 3 14 0.00909568 0.00974537 0.009096 1 0 SLC16A5 9121 broad.mit.edu 37 17 73102069 73102069 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:73102069T>C uc002jmr.2 + 7 1831 c.1459T>C c.(1459-1461)TGG>CGG p.W487R SLC16A5_uc002jmt.2_Missense_Mutation_p.W487R|SLC16A5_uc002jmu.2_Missense_Mutation_p.W487R NM_004695 NP_004686 O15375 MOT6_HUMAN solute carrier family 16, member 5 487 Cytoplasmic (Potential). organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GTGGCTCTTATGGCCAAAGGC 0.383 NA OREG0024726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 20 0 0 0.004672 0 0 CBX2 84733 broad.mit.edu 37 17 77758731 77758731 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr17:77758731C>A uc002jxc.2 + 5 1531 c.1489C>A c.(1489-1491)CGC>AGC p.R497S NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 497 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GAAGCCCACCCGCAGCCTCAT 0.622 NA 9 36 0.000274275 0.000305289 0.004482 1 0 ADCYAP1 116 broad.mit.edu 37 18 905469 905469 + Missense_Mutation SNP G G T rs8192594 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:905469G>T uc010dkg.2 + 2 201 c.82G>T c.(82-84)GCC>TCC p.A28S ADCYAP1_uc010dkh.2_Missense_Mutation_p.A28S NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 28 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 CTCACCTGCCGCCGCCGGACT 0.632 NA 13 89 2.27111e-07 2.81653e-07 0.013537 1 0 ASXL3 80816 broad.mit.edu 37 18 31323630 31323630 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:31323630C>T uc010dmg.1 + 12 3873 c.3818C>T c.(3817-3819)ACA>ATA p.T1273I ASXL3_uc002kxq.2_Missense_Mutation_p.T980I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1273 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCAAACACTACAATTTCTGCT 0.388 NA 7 46 0 0 0.00308 0 0 FHOD3 80206 broad.mit.edu 37 18 34298333 34298333 + Silent SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:34298333A>C uc002kzt.1 + 15 2593 c.2496A>C c.(2494-2496)CCA>CCC p.P832P FHOD3_uc002kzs.1_Silent_p.P849P|FHOD3_uc010dmz.1_Silent_p.P564P|FHOD3_uc010dna.1_Silent_p.P152P NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 832 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACCTCCCCCACCCCCACCCA 0.607 NA 3 22 0 0 0.001855 0 0 C18orf54 162681 broad.mit.edu 37 18 51887198 51887198 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:51887198T>A uc002lfn.3 + 2 372 c.256T>A c.(256-258)TGC>AGC p.C86S C18orf54_uc002lfo.3_Missense_Mutation_p.C86S NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 86 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) GTCACAGTTCTGCAACTATAT 0.323 NA 11 100 0 0 0.010729 0 0 CDH7 1005 broad.mit.edu 37 18 63526255 63526255 + Silent SNP C C T rs147764044 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr18:63526255C>T uc002ljz.2 + 9 1792 c.1467C>T c.(1465-1467)ACC>ACT p.T489T CDH7_uc002lka.2_Silent_p.T489T|CDH7_uc002lkb.2_Silent_p.T489T NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 489 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ATGAGACCACCGTCTGTGAAA 0.433 NA 8 65 0 0 0.006214 0 0 ITGB1BP3 27231 broad.mit.edu 37 19 3942134 3942134 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:3942134G>A uc002lyz.3 + 8 846 c.556G>A c.(556-558)GAC>AAC p.D186N ITGB1BP3_uc010xia.1_Missense_Mutation_p.D191N NM_170678 NP_733778 Q9NPI5 NRK2_HUMAN integrin beta 1 binding protein 3 186 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCCTGGAAGACATTCAGAA 0.637 NA 4 58 0 0 0.009096 0 0 C3 718 broad.mit.edu 37 19 6680180 6680180 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:6680180T>C uc002mfm.2 - 36 4507 c.4445A>G c.(4444-4446)TAT>TGT p.Y1482C C3_uc002mfl.2_Missense_Mutation_p.Y218C NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1482 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAGGTTGTAATAGGCGTAGAC 0.498 NA 8 61 0 0 0.004482 0 0 ZNF317 57693 broad.mit.edu 37 19 9271460 9271460 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:9271460A>G uc002mku.2 + 7 1414 c.1139A>G c.(1138-1140)CAC>CGC p.H380R ZNF317_uc002mkv.2_Missense_Mutation_p.H239R|ZNF317_uc002mkw.2_Missense_Mutation_p.H348R|ZNF317_uc002mkx.2_Missense_Mutation_p.H295R|ZNF317_uc002mky.2_Missense_Mutation_p.H263R NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 380 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTAATTTGCACAAGAAGAAC 0.522 NA 8 11 0 0 0.00308 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565613 11565613 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:11565613C>A uc002mry.1 - 7 1212 c.832G>T c.(832-834)GGC>TGC p.G278C ELAVL3_uc002mrx.1_Missense_Mutation_p.G271C NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 278 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 cccgccgcgccccccgACAGG 0.567 NA 39 43 9.85521e-28 1.45065e-27 0.00623 1 0 ZNF563 147837 broad.mit.edu 37 19 12429554 12429554 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:12429554C>T uc002mtp.2 - 4 1523 c.1285G>A c.(1285-1287)GCG>ACG p.A429T NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 429 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAGATAACGCTTTCCCACAC 0.428 GBM(39;623 795 5132 29510 31476) NA 4 149 0 0 0.009096 0 0 SYCE2 256126 broad.mit.edu 37 19 13015425 13015425 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:13015425G>A uc002mvr.2 - 3 202 c.187C>T c.(187-189)CTG>TTG p.L63L NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 63 Potential. cell division central element 0 CTTGAGTCCAGAGAGGAGAAG 0.532 NA 6 133 0 0 0.00308 0 0 C19orf42 79086 broad.mit.edu 37 19 16764904 16764904 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:16764904T>C uc002ner.2 - 4 201 c.154A>G c.(154-156)AGA>GGA p.R52G C19orf42_uc002neo.1_RNA|C19orf42_uc002nep.1_Intron NM_024104 NP_077009 Q9BQ49 CS042_HUMAN hypothetical protein LOC79086 precursor 52 Extracellular (Potential). integral to membrane 0 CGAAAGTATCTGAGGCTCAGC 0.483 NA 3 47 0 0 0.009096 0 0 TMEM59L 25789 broad.mit.edu 37 19 18731311 18731311 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:18731311C>A uc002njy.3 + 8 1081 c.994C>A c.(994-996)CCC>ACC p.P332T NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 332 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 CAGCCTACCACCCTACAAGCT 0.657 NA 14 56 2.31682e-05 2.71301e-05 0.003163 1 0 ZNF208 7757 broad.mit.edu 37 19 22155891 22155891 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:22155891C>A uc002nqp.2 - 5 1794 c.1645G>T c.(1645-1647)GTC>TTC p.V549F ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGGGTTGAGACCTTAATAAAG 0.388 NA 27 71 5.61819e-17 8.04422e-17 0.005443 1 0 ZNF829 374899 broad.mit.edu 37 19 37406057 37406057 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:37406057G>A uc002ofa.1 - 2 375 c.13C>T c.(13-15)CCT>TCT p.P5S ZNF568_uc010efg.2_5'Flank|ZNF568_uc010xtn.1_5'Flank|ZNF829_uc002ofb.2_Missense_Mutation_p.P5S|ZNF568_uc002ofc.2_5'Flank|ZNF568_uc002ofd.2_5'Flank|ZNF568_uc010efe.2_5'Flank|ZNF568_uc010eff.1_5'Flank NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGATCAGAGGAGAATGGGGC 0.498 NA 6 41 0 0 0.001984 0 0 ZNF578 147660 broad.mit.edu 37 19 53014565 53014565 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:53014565G>A uc002pzp.3 + 6 1175 c.931G>A c.(931-933)GGT>AGT p.G311S NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTCACACTGGTGAGAAACC 0.418 NA 5 83 0 0 0.000602 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341578 55341578 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:55341578G>T uc002qhk.3 + 9 1246 c.1183G>T c.(1183-1185)GAG>TAG p.E395* KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Nonsense_Mutation_p.E320*|KIR3DL1_uc010esf.2_Nonsense_Mutation_p.E300*|KIR3DL1_uc010yfo.1_Nonsense_Mutation_p.E337*|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 395 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AGACCCTGAGGAGGTGACATA 0.512 NA 42 254 8.72198e-27 1.27787e-26 0.01441 1 0 NLRP2 55655 broad.mit.edu 37 19 55493791 55493791 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr19:55493791C>A uc002qij.2 + 6 811 c.725C>A c.(724-726)GCG>GAG p.A242E NLRP2_uc010yfp.1_Missense_Mutation_p.A219E|NLRP2_uc010esn.2_Missense_Mutation_p.A218E|NLRP2_uc010eso.2_Missense_Mutation_p.A239E|NLRP2_uc010esp.2_Missense_Mutation_p.A220E NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 242 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TTCAAATATGCGTTCTACCTC 0.552 NA 13 9 0.000151284 0.000174559 0.001855 1 0 XDH 7498 broad.mit.edu 37 2 31571173 31571173 + Silent SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:31571173C>A uc002rnv.1 - 28 3187 c.3108G>T c.(3106-3108)GGG>GGT p.G1036G NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1036 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCATCTCAGTCCCCCCGTGGG 0.483 Colon(66;682 1445 30109 40147) NA 19 47 0.000229342 0.000259866 0.012319 1 0 VIT 5212 broad.mit.edu 37 2 37035904 37035904 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:37035904T>C uc002rpl.2 + 15 1900 c.1679T>C c.(1678-1680)CTG>CCG p.L560P VIT_uc002rpm.2_Missense_Mutation_p.L538P|VIT_uc010ezv.2_Missense_Mutation_p.L516P|VIT_uc010ezw.2_Missense_Mutation_p.L517P NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 545 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GAACAGCGGCTGGAGTTTGGG 0.592 NA 3 83 0 0 0.009096 0 0 PNPT1 87178 broad.mit.edu 37 2 55874559 55874559 + Missense_Mutation SNP C C G rs146571352 byFrequency TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:55874559C>G uc002rzf.2 - 19 1578 c.1525G>C c.(1525-1527)GTA>CTA p.V509L PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 509 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CCTATTGCTACGCCTGCAACA 0.373 NA 13 83 0 0 0.003163 0 0 NAGK 55577 broad.mit.edu 37 2 71299832 71299832 + Silent SNP C C T rs150661812 TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:71299832C>T uc002shp.3 + 5 823 c.417C>T c.(415-417)TCC>TCT p.S139S NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_Silent_p.S88S NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 139 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) CTGATGGCTCCGAGAGTGGCT 0.602 NA 4 51 0 0 0.009096 0 0 ALMS1 7840 broad.mit.edu 37 2 73635838 73635838 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:73635838T>G uc002sje.1 + 3 527 c.416T>G c.(415-417)TTG>TGG p.L139W ALMS1_uc002sjf.1_Intron NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 138 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GTGGTCTGTTTGGAAACAACA 0.368 NA 3 156 0 0 0.009096 0 0 REG3A 5068 broad.mit.edu 37 2 79385459 79385459 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:79385459G>C uc002sod.1 - 3 581 c.326C>G c.(325-327)CCC>CGC p.P109R REG3A_uc002soe.1_Missense_Mutation_p.P109R|REG3A_uc002sof.1_Missense_Mutation_p.P109R NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 109 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 CACCTGTGTGGGGTCATGGAG 0.567 NA 5 65 0 0 0.001168 0 0 THSD7B 80731 broad.mit.edu 37 2 137814712 137814712 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:137814712C>G uc002tva.1 + 2 769 c.769C>G c.(769-771)CAT>GAT p.H257D THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.H147D NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CAAAGCACATCATCATTCGAA 0.383 NA 7 45 0 0 0.00308 0 0 RIF1 55183 broad.mit.edu 37 2 152319779 152319779 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:152319779G>C uc002txm.2 + 30 3875 c.3745G>C c.(3745-3747)GTG>CTG p.V1249L RIF1_uc002txl.2_Missense_Mutation_p.V1249L|RIF1_uc002txn.2_Missense_Mutation_p.V1249L|RIF1_uc002txo.2_Missense_Mutation_p.V1249L|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1249 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) AACTGTTACAGTGAAAAATAA 0.333 NA 10 75 0 0 0.008291 0 0 ITGB6 3694 broad.mit.edu 37 2 161025799 161025799 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:161025799T>C uc002ubh.2 - 7 957 c.941A>G c.(940-942)CAA>CGA p.Q314R ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.Q314R|ITGB6_uc010zcq.1_Missense_Mutation_p.Q272R|ITGB6_uc010fov.1_Missense_Mutation_p.Q314R NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 314 Extracellular (Potential).|VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 ATCAATGAGTTGTCCAATTGT 0.274 NA 15 95 0 0 0.007413 0 0 SCN1A 6323 broad.mit.edu 37 2 166892607 166892607 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:166892607A>G uc010zcz.1 - 16 3365 c.3347T>C c.(3346-3348)TTA>TCA p.L1116S SCN1A_uc002udo.3_Missense_Mutation_p.L996S|SCN1A_uc010fpk.2_Missense_Mutation_p.L968S NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1127 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) TTCCGTGTTTAAATTTTCAAA 0.323 NA 8 169 0 0 0.006214 0 0 ATF2 1386 broad.mit.edu 37 2 175939413 175939413 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:175939413G>A uc002ujl.2 - 14 1704 c.1442C>T c.(1441-1443)GCG>GTG p.A481V ATF2_uc010fqv.2_Missense_Mutation_p.A432V|ATF2_uc002ujv.2_Missense_Mutation_p.A228V|ATF2_uc002ujm.2_Missense_Mutation_p.A423V|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Missense_Mutation_p.A120V|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.A481V|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.A463V|ATF2_uc002ujs.2_Missense_Mutation_p.A423V|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_3'UTR|ATF2_uc002ujx.1_RNA|uc002ujk.2_5'Flank NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 481 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding 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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) ACTCTGGTCCGCCATCTGGGT 0.498 Pancreas(17;87 705 4534 15538 30988) NA 3 42 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179395519 179395519 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179395519C>T uc010zfg.1 - 307 98343 c.98119G>A c.(98119-98121)GAG>AAG p.E32707K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26402K|TTN_uc010zfi.1_Missense_Mutation_p.E26335K|TTN_uc010zfj.1_Missense_Mutation_p.E26210K|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33634 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) TGAACTTTCTCTGTTGGTGTT 0.468 NA 4 44 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179403902 179403902 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179403902C>T uc010zfg.1 - 302 91280 c.91056G>A c.(91054-91056)CGG>CGA p.R30352R uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R24047R|TTN_uc010zfi.1_Silent_p.R23980R|TTN_uc010zfj.1_Silent_p.R23855R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31279 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) CATCTTTGGGCCGGGACCAGG 0.473 NA 7 52 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179439116 179439116 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179439116G>T uc010zfg.1 - 275 64263 c.64039C>A c.(64039-64041)CCA>ACA p.P21347T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P15042T|TTN_uc010zfi.1_Missense_Mutation_p.P14975T|TTN_uc010zfj.1_Missense_Mutation_p.P14850T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22274 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) GGTTCTGATGGCTTGCTTGGC 0.438 NA 10 178 1.33987e-11 1.85114e-11 0.008291 1 0 TTN 7273 broad.mit.edu 37 2 179474087 179474087 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179474087G>T uc010zfg.1 - 222 44470 c.44246C>A c.(44245-44247)CCT>CAT p.P14749H uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P8444H|TTN_uc010zfi.1_Missense_Mutation_p.P8377H|TTN_uc010zfj.1_Missense_Mutation_p.P8252H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15676 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) CTGTGTCAGAGGCAGGACAAA 0.448 NA 8 42 9.70103e-10 1.28938e-09 0.008291 1 0 TTN 7273 broad.mit.edu 37 2 179554545 179554545 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179554545G>T uc010zfg.1 - 119 28333 c.28109C>A c.(28108-28110)GCT>GAT p.A9370D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A6031D|TTN_uc010fre.1_Missense_Mutation_p.A481D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10297 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) TGTACCTTTAGCTGGGGGAGC 0.368 NA 16 142 6.94344e-10 9.34694e-10 0.006122 1 0 TTN 7273 broad.mit.edu 37 2 179599266 179599266 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:179599266C>A uc010zfg.1 - 49 11777 c.11553G>T c.(11551-11553)CAG>CAT p.Q3851H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q512H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4778 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) AGACTTCACACTGAAGTAGAG 0.378 NA 14 75 3.27435e-08 4.12568e-08 0.00245 1 0 COL5A2 1290 broad.mit.edu 37 2 189918906 189918906 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:189918906C>T uc002uqk.2 - 36 2699 c.2424G>A c.(2422-2424)CCG>CCA p.P808P COL5A2_uc010frx.2_Silent_p.P384P NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 808 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TAGGACCTGCCGGACCTGGAG 0.398 NA 4 99 0 0 0.009096 0 0 ERBB4 2066 broad.mit.edu 37 2 212989572 212989572 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:212989572G>C uc002veg.1 - 2 237 c.139C>G c.(139-141)CGA>GGA p.R47G ERBB4_uc002veh.1_Missense_Mutation_p.R47G|ERBB4_uc010zji.1_Missense_Mutation_p.R47G|ERBB4_uc010zjj.1_Missense_Mutation_p.R47G|ERBB4_uc010fut.1_Missense_Mutation_p.R47G NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 47 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGCAAGGCTCGGTACTGCTGT 0.473 NA TSP Lung(8;0.080) 5 49 0 0 0.000602 0 0 DNAJB2 3300 broad.mit.edu 37 2 220146664 220146664 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:220146664C>T uc002vkx.1 + 5 470 c.233C>T c.(232-234)ACT>ATT p.T78I DNAJB2_uc010zla.1_Missense_Mutation_p.T78I|DNAJB2_uc002vkw.1_Missense_Mutation_p.T78I|DNAJB2_uc002vky.2_5'Flank|DNAJB2_uc010zlb.1_5'Flank NM_006736 NP_006727 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 78 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding 0 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTTCCAGGAACTGGCCCATCT 0.622 NA 4 46 0 0 0.009096 0 0 PTPRN 5798 broad.mit.edu 37 2 220167119 220167119 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:220167119C>T uc002vkz.2 - 6 823 c.734G>A c.(733-735)AGC>AAC p.S245N PTPRN_uc010zlc.1_Missense_Mutation_p.S155N|PTPRN_uc002vla.2_Missense_Mutation_p.S245N NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 245 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGCAGTTCTGCTGAAGAGGGC 0.632 NA 6 20 0 0 0.001984 0 0 SPEG 10290 broad.mit.edu 37 2 220313108 220313108 + Nonsense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:220313108C>T uc010fwg.2 + 4 1228 c.1228C>T c.(1228-1230)CGA>TGA p.R410* SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 410 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTTCGAGGAGCGACGGCGCAG 0.736 NA 2 2 0 0 0.004672 0 0 GIGYF2 26058 broad.mit.edu 37 2 233651927 233651927 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:233651927A>T uc002vti.3 + 11 937 c.600A>T c.(598-600)GAA>GAT p.E200D GIGYF2_uc010zmj.1_Missense_Mutation_p.E200D|GIGYF2_uc002vtg.2_Missense_Mutation_p.E200D|GIGYF2_uc002vtj.3_Missense_Mutation_p.E222D|GIGYF2_uc002vtk.3_Missense_Mutation_p.E200D|GIGYF2_uc002vth.3_Missense_Mutation_p.E200D|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.E31D NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 200 Arg-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TACGCTCAGAAAGTGAAAATT 0.423 NA 25 50 0 0 0.009535 0 0 CXCR7 57007 broad.mit.edu 37 2 237489437 237489437 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:237489437G>C uc010fyq.2 + 3 559 c.329G>C c.(328-330)TGG>TCG p.W110S CXCR7_uc002vwd.2_Missense_Mutation_p.W110S NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 110 Extracellular (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) CACAACCAGTGGCCCATGGGC 0.562 NA 11 124 0 0 0.013537 0 0 ANO7 50636 broad.mit.edu 37 2 242138778 242138778 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:242138778C>A uc002wax.2 + 5 622 c.519C>A c.(517-519)AGC>AGA p.S173R NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 173 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CCCTCCTCAGCGCCTCCTGGG 0.652 NA 7 70 5.18039e-06 6.18115e-06 0.00308 1 0 D2HGDH 728294 broad.mit.edu 37 2 242690764 242690764 + Silent SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr2:242690764G>C uc002wce.1 + 8 1274 c.1101G>C c.(1099-1101)GTG>GTC p.V367V D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Silent_p.V233V|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Silent_p.V66V NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 367 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CCGGCCTGGTGACCGATGGGA 0.627 NA 7 36 0 0 0.004482 0 0 PLCB1 23236 broad.mit.edu 37 20 8745793 8745793 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:8745793A>C uc002wnb.2 + 26 2721 c.2718A>C c.(2716-2718)GAA>GAC p.E906D PLCB1_uc010zrb.1_Missense_Mutation_p.E805D|PLCB1_uc002wna.2_Missense_Mutation_p.E906D|PLCB1_uc002wnc.1_Missense_Mutation_p.E805D|PLCB1_uc002wnd.1_Missense_Mutation_p.E483D NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 906 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CAGAAGTGGAAGCACAGACCA 0.408 NA 7 28 0 0 0.004482 0 0 SNAP25 6616 broad.mit.edu 37 20 10273857 10273857 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:10273857T>A uc002wnq.1 + 5 424 c.212T>A c.(211-213)ATG>AAG p.M71K SNAP25_uc002wnr.1_Intron|SNAP25_uc002wns.1_Missense_Mutation_p.M8K|SNAP25_uc010gca.1_Intron|SNAP25_uc010gcb.1_Missense_Mutation_p.M8K|SNAP25_uc010gcc.1_Intron NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 71 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) AATAAGGACATGAAAGAAGCA 0.438 NA 19 74 0 0 0.012319 0 0 HCK 3055 broad.mit.edu 37 20 30689307 30689307 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:30689307C>A uc002wxh.2 + 13 1737 c.1566C>A c.(1564-1566)TAC>TAA p.Y522* HCK_uc010gdy.2_Nonsense_Mutation_p.Y501*|HCK_uc002wxi.2_Nonsense_Mutation_p.Y500* NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 522 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGAGCCAGTACCAACAGCAGC 0.632 NA 3 23 0.004672 0.00507476 0.004672 1 0 CTSA 5476 broad.mit.edu 37 20 44527020 44527020 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:44527020G>T uc002xqj.3 + 15 1848 c.1374G>T c.(1372-1374)ATG>ATT p.M458I CTSA_uc002xqh.2_Missense_Mutation_p.M476I|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.M459I|CTSA_uc002xqk.3_Missense_Mutation_p.M458I NM_001127695 NP_001121167 P10619 PPGB_HUMAN cathepsin A isoform b precursor 458 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCGGCCACATGGTTCCCACCG 0.592 NA 5 51 1.23904e-05 1.46179e-05 0.000602 1 0 BCAS4 55653 broad.mit.edu 37 20 49493042 49493042 + Silent SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:49493042C>A uc002xvq.2 + 6 670 c.606C>A c.(604-606)GCC>GCA p.A202A BCAS4_uc002xvr.2_Missense_Mutation_p.P170H|BCAS4_uc002xvs.2_Missense_Mutation_p.P125H NM_017843 NP_060313 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 isoform a 202 cytoplasm 0 GCACCGGTGCCCGTGACGTAC 0.562 NA 6 206 0.00198382 0.00217736 0.001984 1 0 ATP9A 10079 broad.mit.edu 37 20 50234086 50234086 + Silent SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:50234086T>A uc002xwg.1 - 22 2358 c.2358A>T c.(2356-2358)GGA>GGT p.G786G ATP9A_uc010gih.1_Silent_p.G650G|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 786 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CGTCATTGCCTCCGTCCCCTG 0.507 NA 5 36 0 0 0.000602 0 0 ZNF512B 57473 broad.mit.edu 37 20 62592756 62592756 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr20:62592756G>T uc002yhl.1 - 16 2387 c.2333C>A c.(2332-2334)GCC>GAC p.A778D NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGCCAGGTGGGCCCCCTGCAA 0.597 NA 13 228 9.31168e-06 1.10686e-05 0.001855 1 0 SGOL1 151648 broad.mit.edu 37 3 20215786 20215786 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:20215786C>T uc003cbs.2 - 6 1424 c.1237G>A c.(1237-1239)GAT>AAT p.D413N SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.D413N|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.D413N|SGOL1_uc003cca.2_Missense_Mutation_p.D413N|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 413 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 TCTTTTTCATCTGTGTATTTC 0.408 NA 29 109 0 0 0.010818 0 0 RARB 5915 broad.mit.edu 37 3 25502745 25502745 + Silent SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:25502745T>C uc011awl.1 + 2 306 c.240T>C c.(238-240)CCT>CCC p.P80P RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Silent_p.P73P NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 80 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTCCACTTCCTCCCCCTCGAG 0.507 NA 3 122 0 0 0.004672 0 0 TOP2B 7155 broad.mit.edu 37 3 25675377 25675377 + Silent SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:25675377T>C uc011awn.1 - 8 1024 c.981A>G c.(979-981)AAA>AAG p.K327K TOP2B_uc003cdj.2_Silent_p.K322K NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 327 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GCTGGAATCCTTTTTCACTCA 0.348 NA 3 175 0 0 0.001168 0 0 ARPP21 10777 broad.mit.edu 37 3 35770882 35770882 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:35770882T>C uc003cgb.2 + 15 1577 c.1313T>C c.(1312-1314)GTG>GCG p.V438A ARPP21_uc003cga.2_Missense_Mutation_p.V384A|ARPP21_uc011axy.1_Missense_Mutation_p.V404A|ARPP21_uc003cgf.2_Missense_Mutation_p.V239A|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 438 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GTCTCAGGTGTGGCAGCTGGC 0.592 NA 17 65 0 0 0.007413 0 0 GOLGA4 2803 broad.mit.edu 37 3 37379191 37379191 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:37379191A>T uc003cgv.2 + 19 6666 c.6362A>T c.(6361-6363)GAT>GTT p.D2121V GOLGA4_uc003cgw.2_Missense_Mutation_p.D2136V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.D2002V NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 2121 Potential. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 TTAATCAGTGATTCGAAATTG 0.378 NA 16 47 0 0 0.006122 0 0 SCN10A 6336 broad.mit.edu 37 3 38764951 38764951 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:38764951G>T uc003ciq.2 - 18 3322 c.3322C>A c.(3322-3324)CTG>ATG p.L1108M NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1108 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGTTCTTCCAGGTCATCTGCC 0.473 NA 11 38 3.07112e-06 3.69237e-06 0.010729 1 0 ALS2CL 259173 broad.mit.edu 37 3 46712527 46712527 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:46712527C>T uc003cqa.1 - 26 2999 c.2809G>A c.(2809-2811)GAC>AAC p.D937N ALS2CL_uc003cpx.1_Missense_Mutation_p.D284N|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.D452N|ALS2CL_uc003cqb.1_Missense_Mutation_p.D937N|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 937 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) AGCCTCATGTCTTCTTTCTGG 0.592 NA 4 143 0 0 0.009096 0 0 SCAP 22937 broad.mit.edu 37 3 47468957 47468957 + Missense_Mutation SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:47468957T>G uc003crh.1 - 5 866 c.611A>C c.(610-612)CAG>CCG p.Q204P SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 204 Lumenal (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GGCTGAAGTCTGCAGGGTTTT 0.527 Pancreas(149;978 1908 29304 37806 46700) NA 3 139 0 0 0.009096 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756821 49756821 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:49756821G>A uc003cxj.2 - 1 418 c.78C>T c.(76-78)TTC>TTT p.F26F RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 26 Extracellular (Potential).|LRRNT. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CACGGGGCGGGAAACCCTCGG 0.642 NA OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 85 0 0 0.000602 0 0 IP6K1 9807 broad.mit.edu 37 3 49764843 49764843 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:49764843A>T uc003cxm.1 - 6 1353 c.1038T>A c.(1036-1038)GCT>GCA p.A346A IP6K1_uc003cxn.1_Silent_p.A181A|IP6K1_uc011bcv.1_Silent_p.A181A|IP6K1_uc003cxo.2_3'UTR NM_153273 NP_695005 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 isoform 1 346 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 GGCAGGACTCAGCCCGGCACT 0.627 NA 10 37 0 0 0.008291 0 0 RBM5 10181 broad.mit.edu 37 3 50147085 50147085 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:50147085G>A uc003cyg.2 + 15 1390 c.1242G>A c.(1240-1242)CAG>CAA p.Q414Q RBM5_uc011bdj.1_Silent_p.Q358Q|RBM5_uc011bdk.1_Silent_p.Q242Q NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 414 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGAGTCCTCAGCTGTATAATC 0.488 NA 56 131 0 0 0.01441 0 0 ACY1 95 broad.mit.edu 37 3 52022801 52022801 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:52022801G>C uc003dcp.2 + 14 1082 c.1021G>C c.(1021-1023)GAG>CAG p.E341Q ACY1_uc011bea.1_Missense_Mutation_p.E431Q|ACY1_uc003dcq.2_Missense_Mutation_p.E341Q NM_000666 NP_000657 Q03154 ACY1_HUMAN aminoacylase 1 341 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TCTGGAGCCTGAGATCATGCC 0.408 NA 12 328 0 0 0.00499 0 0 CACNA1D 776 broad.mit.edu 37 3 53808688 53808688 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:53808688G>T uc003dgv.3 + 34 4348 c.4185G>T c.(4183-4185)GCG>GCT p.A1395A CACNA1D_uc003dgu.3_Silent_p.A1415A|CACNA1D_uc003dgy.3_Silent_p.A1380A|CACNA1D_uc003dgw.3_Silent_p.A1062A|CACNA1D_uc003dgx.1_Silent_p.A571A NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1395 IV.|Extracellular (Potential). 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) TTCCCCAGGCGGTGCTGCTGC 0.542 NA 13 50 1.37285e-15 1.93923e-15 0.004007 1 0 CBLB 868 broad.mit.edu 37 3 105439010 105439010 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:105439010C>T uc003dwc.2 - 10 1610 c.1288G>A c.(1288-1290)GAT>AAT p.D430N CBLB_uc011bhi.1_Missense_Mutation_p.D452N|CBLB_uc003dwd.1_Missense_Mutation_p.D430N|CBLB_uc003dwe.1_Missense_Mutation_p.D430N|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 430 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 GAGCCTTCATCTCTTGGATCA 0.483 GBM(93;588 1337 9788 29341 43499) NA Mis S AML 3 20 0 0 0.009096 0 0 ATP6V1A 523 broad.mit.edu 37 3 113517288 113517288 + Nonsense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:113517288G>T uc003eao.2 + 12 1555 c.1489G>T c.(1489-1491)GGA>TGA p.G497* ATP6V1A_uc011bik.1_Nonsense_Mutation_p.G464* NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 497 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 ACAGCTTGTGGGAAAGGTGAG 0.428 NA 12 59 1.5842e-08 2.04518e-08 0.001855 1 0 SLITRK3 22865 broad.mit.edu 37 3 164908563 164908563 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:164908563A>T uc003fej.3 - 2 500 c.56T>A c.(55-57)CTT>CAT p.L19H SLITRK3_uc003fek.2_Missense_Mutation_p.L19H NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 19 integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TGTGCTTAGAAGAATTATCCA 0.418 NA HNSCC(40;0.11) 24 44 0 0 0.003954 0 0 PRKCI 5584 broad.mit.edu 37 3 169998966 169998966 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr3:169998966G>A uc003fgs.2 + 10 1133 c.895G>A c.(895-897)GTA>ATA p.V299I NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 299 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TATTGATTGGGTACAGACAGA 0.368 NA 3 117 0 0 0.009096 0 0 PROM1 8842 broad.mit.edu 37 4 16025961 16025961 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:16025961G>T uc003goo.2 - 6 863 c.651C>A c.(649-651)GCC>GCA p.A217A PROM1_uc003gor.2_Silent_p.A217A|PROM1_uc003gos.2_Silent_p.A208A|PROM1_uc003got.2_Silent_p.A217A|PROM1_uc003gou.2_Silent_p.A208A|PROM1_uc003gop.2_Silent_p.A208A|PROM1_uc003goq.3_Silent_p.A208A|PROM1_uc010iec.1_Silent_p.A95A NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 217 Extracellular (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 TGTTGTACTGGGCCAATATAT 0.358 NA 7 58 9.70103e-10 1.28938e-09 0.008291 1 0 UCHL1 7345 broad.mit.edu 37 4 41270013 41270013 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:41270013A>G uc003gvo.2 + 9 691 c.595A>G c.(595-597)AAG>GAG p.K199E UCHL1_uc003gvp.2_Missense_Mutation_p.K118E|UCHL1_uc003gvq.2_Missense_Mutation_p.K118E|UCHL1_uc003gvr.2_Missense_Mutation_p.K118E|UCHL1_uc003gvs.2_Missense_Mutation_p.K118E NM_004181 NP_004172 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 199 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|skin(1) 2 GGACGCTGCCAAGGTCTGCAG 0.493 NA 7 36 0 0 0.001984 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895397 42895397 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:42895397G>T uc003gwt.2 + 1 114 c.114G>T c.(112-114)CCG>CCT p.P38P NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 38 P -> L (in DFNB25). cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 ATGGGCAACCGTCAGGCTCTC 0.517 NA 18 181 2.94398e-08 3.75447e-08 0.007413 1 0 SMR3A 26952 broad.mit.edu 37 4 71232466 71232466 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:71232466C>G uc003hfg.1 + 3 241 c.160C>G c.(160-162)CAT>GAT p.H54D SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 54 Pro-rich. extracellular region 0 all_hematologic(202;0.196) TCCACCACCCCATCCTCCACC 0.572 NA 50 118 0 0 0.01441 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:71347185T>C uc011cat.1 + 4 1012 c.724T>C c.(724-726)TCT>CCT p.S242P MUC7_uc011cau.1_Missense_Mutation_p.S242P|MUC7_uc003hfj.2_Missense_Mutation_p.S242P|uc011cav.1_Intron NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 242 Thr-rich.|4. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592 NA 12 223 0 0 0.003163 0 0 CDS1 1040 broad.mit.edu 37 4 85566417 85566417 + Silent SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:85566417A>C uc011ccv.1 + 12 1693 c.1195A>C c.(1195-1197)AGA>CGA p.R399R CDS1_uc010ike.1_Silent_p.R163R NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 399 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GATAATGGACAGATTTGATTG 0.299 NA 30 76 0 0 0.004289 0 0 PTPN13 5783 broad.mit.edu 37 4 87694047 87694047 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:87694047C>G uc003hpz.2 + 32 5765 c.5285C>G c.(5284-5286)ACT>AGT p.T1762S PTPN13_uc003hpy.2_Missense_Mutation_p.T1767S|PTPN13_uc003hqa.2_Missense_Mutation_p.T1743S|PTPN13_uc003hqb.2_Missense_Mutation_p.T1571S|PTPN13_uc003hqc.1_Missense_Mutation_p.T128S NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1762 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCTGAACCAACTAGACAAGAA 0.373 NA 12 38 0 0 0.013537 0 0 C4orf37 285555 broad.mit.edu 37 4 98480259 98480259 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:98480259C>G uc003htt.1 - 11 1420 c.1330G>C c.(1330-1332)GAG>CAG p.E444Q NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 444 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) TTCTTTTTCTCCTGGGATATC 0.274 NA 10 88 0 0 0.010729 0 0 ADH1A 124 broad.mit.edu 37 4 100208053 100208053 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:100208053G>T uc003hur.1 - 3 284 c.213C>A c.(211-213)GCC>GCA p.A71A uc003hum.1_RNA|ADH1A_uc011ceg.1_Silent_p.A71A|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Silent_p.A71A NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 71 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CCACGATGCCGGCTGCCTCAT 0.507 NA 37 173 4.92203e-23 7.17795e-23 0.00623 1 0 DKK2 27123 broad.mit.edu 37 4 107845352 107845352 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:107845352C>G uc003hyi.2 - 4 1244 c.539G>C c.(538-540)GGA>GCA p.G180A DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 180 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCAGGGGTCTCCTTCATGCCC 0.423 NA 3 31 0 0 0.009096 0 0 ANK2 287 broad.mit.edu 37 4 114275689 114275689 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:114275689A>T uc003ibe.3 + 38 6015 c.5915A>T c.(5914-5916)CAA>CTA p.Q1972L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.Q1987L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1939 Repeat-rich region.|Repeat A. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACAGAAAAGCAACCACCTGTA 0.498 NA 6 139 0 0 0.001168 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590612 125590612 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:125590612C>G uc003ifg.3 - 3 4086 c.3820G>C c.(3820-3822)GAA>CAA p.E1274Q ANKRD50_uc011cgo.1_Missense_Mutation_p.E1095Q|ANKRD50_uc010inw.2_Missense_Mutation_p.E1274Q NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1274 Ser-rich. central_nervous_system(1) 1 GCAGAATTTTCTGATTTCCCC 0.388 NA 54 217 0 0 0.01441 0 0 C4orf27 54969 broad.mit.edu 37 4 170674954 170674954 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr4:170674954T>A uc003isl.3 - 2 146 c.81A>T c.(79-81)AAA>AAT p.K27N NM_017867 NP_060337 Q9NWY4 CD027_HUMAN hypothetical protein LOC54969 27 nucleus ovary(1)|pancreas(1) 2 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) CTTCACAGAATTTACTTTTCT 0.348 NA 4 47 0 0 0.000602 0 0 ADCY2 108 broad.mit.edu 37 5 7724663 7724663 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:7724663G>C uc003jdz.1 + 13 1776 c.1709G>C c.(1708-1710)TGG>TCG p.W570S ADCY2_uc011cmo.1_Missense_Mutation_p.W390S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 570 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCCAGGCAATGGCTCAAGTCT 0.333 NA 6 72 0 0 0.00308 0 0 PRDM9 56979 broad.mit.edu 37 5 23509169 23509169 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:23509169G>T uc003jgo.2 + 2 209 c.27G>T c.(25-27)GAG>GAT p.E9D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 9 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 CCCAAGAGGAGAGCCCAGAAG 0.567 NA HNSCC(3;0.000094) 15 38 1.50039e-11 2.06386e-11 0.012319 1 0 TTC33 23548 broad.mit.edu 37 5 40730380 40730380 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:40730380T>A uc003jma.2 - 3 435 c.287A>T c.(286-288)TAC>TTC p.Y96F TTC33_uc011cpm.1_Intron|TTC33_uc010ivg.2_Intron NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 96 TPR 2. binding ovary(1) 1 TTTCATCTCGTATAGGGTAGC 0.358 NA 5 86 0 0 0.000602 0 0 FST 10468 broad.mit.edu 37 5 52779494 52779494 + Silent SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:52779494A>G uc003jpd.2 + 3 465 c.438A>G c.(436-438)CTA>CTG p.L146L FST_uc003jpc.2_Silent_p.L146L NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 146 Kazal-like 1. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) GTGCACTCCTAAAGGCAAGAT 0.542 NA 9 46 0 0 0.008291 0 0 MAST4 375449 broad.mit.edu 37 5 66462786 66462786 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:66462786C>T uc003jut.1 + 28 7280 c.7212C>T c.(7210-7212)CGC>CGT p.R2404R MAST4_uc003juw.2_Silent_p.R2332R|MAST4_uc003jux.2_Silent_p.R157R NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2596 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) ACACTGACCGCCCCATCTCTC 0.587 NA 3 31 0 0 0.004672 0 0 RASA1 5921 broad.mit.edu 37 5 86645175 86645175 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:86645175A>G uc003kiw.2 + 8 1365 c.1247A>G c.(1246-1248)TAT>TGT p.Y416C RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Y239C|RASA1_uc011ctv.1_Missense_Mutation_p.Y249C|RASA1_uc011ctw.1_Missense_Mutation_p.Y250C|RASA1_uc010jaw.2_Missense_Mutation_p.Y238C NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 416 SH2 2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GGCCGGTATTATAACAGGTAA 0.303 NA 3 68 0 0 0.004672 0 0 CAMK4 814 broad.mit.edu 37 5 110819868 110819868 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:110819868G>C uc011cvj.1 + 12 1225 c.1126G>C c.(1126-1128)GAG>CAG p.E376Q CAMK4_uc003kpf.2_Missense_Mutation_p.E376Q|CAMK4_uc010jbv.2_Missense_Mutation_p.E179Q|CAMK4_uc003kpg.2_Missense_Mutation_p.E67Q NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 376 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TCCAGAAGGAGAGAAAATTCA 0.522 NA 8 83 0 0 0.004482 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202891 140202891 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:140202891G>T uc003lhl.2 + 1 1531 c.1531G>T c.(1531-1533)GCG>TCG p.A511S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A511S|PCDHA5_uc003lhj.1_Missense_Mutation_p.A511S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 511 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGTGCACGCGGAGAGCGG 0.706 NA 13 120 1.05317e-09 1.38807e-09 0.00245 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140710575 140710575 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:140710575C>G uc003lji.1 + 1 324 c.324C>G c.(322-324)ATC>ATG p.I108M PCDHGA1_uc011dan.1_Missense_Mutation_p.I108M NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 108 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTAATATCCTTGTTGAGG 0.443 NA 19 144 0 0 0.012319 0 0 PRELID2 153768 broad.mit.edu 37 5 145176111 145176111 + Splice_Site SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:145176111C>A uc003lnp.1 - 6 458 c.405_splice c.e6-1 p.W135_splice PRELID2_uc003lnq.1_Splice_Site_p.W123_splice|PRELID2_uc003lno.1_Splice_Site_p.W94_splice|PRELID2_uc003lnr.1_Intron NM_182960 NP_892005 Q8N945 PRLD2_HUMAN PRELI domain containing 2 isoform a 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAACTCTGTCCTGCAAAAAAA 0.368 NA 10 87 1.76689e-08 2.26249e-08 0.006214 1 0 MED7 9443 broad.mit.edu 37 5 156566362 156566362 + Missense_Mutation SNP T T A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:156566362T>A uc010jik.2 - 2 473 c.81A>T c.(79-81)CAA>CAT p.Q27H MED7_uc003lwm.3_Missense_Mutation_p.Q27H NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 27 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTAAGCCTTCTTGAATATTTT 0.428 NA 7 78 0 0 0.00308 0 0 SLIT3 6586 broad.mit.edu 37 5 168244397 168244397 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr5:168244397C>A uc003mab.2 - 8 1121 c.701G>T c.(700-702)CGG>CTG p.R234L SLIT3_uc010jjg.2_Missense_Mutation_p.R234L|SLIT3_uc010jji.2_Missense_Mutation_p.R234L|SLIT3_uc003mac.1_Missense_Mutation_p.R31L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 234 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAACTGTCCGTCGCTGTCG 0.612 Ovarian(29;311 847 10864 17279 24903) NA 4 60 5.9392e-07 7.308e-07 0.001168 1 0 FOXQ1 94234 broad.mit.edu 37 6 1313369 1313369 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:1313369G>A uc003mtl.3 + 1 695 c.430G>A c.(430-432)GAG>AAG p.E144K NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 144 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GACGCTGGCGGAGATCAACGA 0.642 NA 6 49 0 0 0.001984 0 0 GMPR 2766 broad.mit.edu 37 6 16254832 16254832 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:16254832G>A uc003nbs.2 + 4 445 c.331G>A c.(331-333)GAA>AAA p.E111K NM_006877 NP_006868 P36959 GMPR1_HUMAN guanosine monophosphate reductase 111 NADP (By similarity). nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GAATGATCTGGAAAAGATGAC 0.453 NA 53 91 0 0 0.01441 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861512 27861512 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:27861512C>A uc003nkc.1 + 1 310 c.272C>A c.(271-273)ACC>AAC p.T91N HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 91 nucleosome assembly nucleosome|nucleus DNA binding 0 TCGACCATCACCTCCAGGGAG 0.627 NA 10 115 9.70103e-10 1.28938e-09 0.008291 1 0 B3GAT2 135152 broad.mit.edu 37 6 71665781 71665781 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:71665781C>A uc003pfv.2 - 1 1008 c.352G>T c.(352-354)GAC>TAC p.D118Y B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.D118Y NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 118 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GCCGCCGCGTCCTCCACCAGG 0.731 NA 5 31 0.000602214 0.000667949 0.000602 1 0 ME1 4199 broad.mit.edu 37 6 83963432 83963432 + Missense_Mutation SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:83963432A>C uc003pjy.2 - 7 836 c.730T>G c.(730-732)TTT>GTT p.F244V ME1_uc011dzb.1_Missense_Mutation_p.F169V|ME1_uc011dzc.1_Missense_Mutation_p.F78V NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 244 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AAATCTTCAAACTGAATAAGG 0.308 NA 14 95 0 0 0.003163 0 0 SCML4 256380 broad.mit.edu 37 6 108066250 108066250 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:108066250G>T uc010kdf.2 - 5 836 c.585C>A c.(583-585)AGC>AGA p.S195R SCML4_uc003prz.3_Missense_Mutation_p.S137R|SCML4_uc011eam.1_Missense_Mutation_p.S195R|SCML4_uc003psa.3_Missense_Mutation_p.S166R NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) CGCACAGGAGGCTTCGGCACA 0.592 NA 9 46 0.000274275 0.000305289 0.004482 1 0 NKAIN2 154215 broad.mit.edu 37 6 124979407 124979407 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:124979407G>C uc003pzo.2 + 4 626 c.349G>C c.(349-351)GTG>CTG p.V117L NKAIN2_uc003pzn.1_Missense_Mutation_p.V117L|NKAIN2_uc003pzp.2_Missense_Mutation_p.V116L|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.V27L NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 117 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) AGGATGTACGGTGACGTCAGT 0.493 NA 8 73 0 0 0.004482 0 0 MYB 4602 broad.mit.edu 37 6 135515583 135515583 + Silent SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:135515583A>T uc003qfc.2 + 8 1132 c.933A>T c.(931-933)GGA>GGT p.G311G MYB_uc003qfh.2_Silent_p.G311G|MYB_uc003qfi.2_Silent_p.G311G|MYB_uc010kgi.2_Silent_p.G311G|MYB_uc003qfq.2_Silent_p.G311G|MYB_uc010kgj.2_Intron|MYB_uc003qfo.2_Silent_p.G311G|MYB_uc003qfu.2_Silent_p.G311G|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Silent_p.G123G|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Silent_p.G311G|MYB_uc003qgd.1_Silent_p.G123G|MYB_uc003qge.1_5'Flank NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 311 Transcriptional activation domain. blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AGCTAAAAGGACAGCAGGTGC 0.408 NA T NFIB adenoid cystic carcinoma 4 51 0 0 0.009096 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599520 136599520 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:136599520T>C uc003qgx.1 - 4 752 c.499A>G c.(499-501)AAA>GAA p.K167E BCLAF1_uc003qgw.1_Missense_Mutation_p.K167E|BCLAF1_uc003qgy.1_Missense_Mutation_p.K165E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.K165E NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 167 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCAGCTTTTTTGGTTTGTTTT 0.423 Colon(142;1534 1789 5427 7063 28491) NA 7 198 0 0 0.00308 0 0 NMBR 4829 broad.mit.edu 37 6 142399902 142399902 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:142399902G>T uc003qiu.2 - 2 702 c.561C>A c.(559-561)ATC>ATA p.I187I NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 187 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CCAAGCTACTGATGCGAGCCA 0.488 NA 8 165 0.00448238 0.0049026 0.004482 1 0 STXBP5 134957 broad.mit.edu 37 6 147581767 147581767 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:147581767C>T uc003qlz.2 + 5 609 c.448C>T c.(448-450)CTG>TTG p.L150L STXBP5_uc010khz.1_Silent_p.L150L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 150 WD 3. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ATTTTGCCATCTGCCTTTCCA 0.363 NA 4 74 0 0 0.000602 0 0 TAB2 23118 broad.mit.edu 37 6 149699976 149699976 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr6:149699976C>G uc003qmj.2 + 3 1103 c.925C>G c.(925-927)CAT>GAT p.H309D TAB2_uc011eec.1_Missense_Mutation_p.H277D|TAB2_uc010kia.1_Missense_Mutation_p.H309D|TAB2_uc010kib.1_Missense_Mutation_p.H309D|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 309 activation of MAPK activity|heart development|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 GTCTTCTGCCCATAGCCAATA 0.418 NA 18 80 0 0 0.008871 0 0 UNCX 340260 broad.mit.edu 37 7 1275566 1275566 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:1275566C>A uc011jvw.1 + 3 549 c.549C>A c.(547-549)AGC>AGA p.S183R NM_001080461 NP_001073930 A6NJT0 UNC4_HUMAN UNC homeobox 183 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) CCACGTGCAGCGGCGAGCCCA 0.637 NA 4 20 0.00909568 0.00974537 0.009096 1 0 MEOX2 4223 broad.mit.edu 37 7 15652018 15652018 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:15652018G>A uc003stc.2 - 3 1190 c.909C>T c.(907-909)CAC>CAT p.H303H MEOX2_uc011jxw.1_Silent_p.H303H NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 303 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TATATCATAAGTGCGCATGCT 0.483 Esophageal Squamous(140;197 1769 16409 18257 29929) NA 29 65 0 0 0.012213 0 0 GBAS 2631 broad.mit.edu 37 7 56045919 56045919 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:56045919C>G uc003tre.1 + 2 201 c.193C>G c.(193-195)CTA>GTA p.L65V GBAS_uc003trf.1_Missense_Mutation_p.L65V NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 65 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTCCAATCTCCTAGCCAAAAA 0.398 NA 7 114 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82546079 82546079 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:82546079G>T uc003uhx.2 - 7 11512 c.11223C>A c.(11221-11223)AGC>AGA p.S3741R PCLO_uc003uhv.2_Missense_Mutation_p.S3741R|PCLO_uc010lec.2_Missense_Mutation_p.S706R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3672 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGCCCATTGTGCTGAATGTGG 0.468 NA 9 77 0.000274275 0.000305289 0.004482 1 0 CLDN12 9069 broad.mit.edu 37 7 90042108 90042108 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:90042108A>T uc003ukp.2 + 5 754 c.118A>T c.(118-120)ACA>TCA p.T40S CLDN12_uc003ukq.2_Missense_Mutation_p.T40S|CLDN12_uc010leq.2_Missense_Mutation_p.T40S|CLDN12_uc003ukr.2_Missense_Mutation_p.T40S|CLDN12_uc003uks.2_Missense_Mutation_p.T40S NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 40 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 ACGATTGATCACATTCAACAG 0.517 NA 4 43 0 0 0.009096 0 0 CPSF4 10898 broad.mit.edu 37 7 99051639 99051639 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:99051639G>A uc003uqj.2 + 7 764 c.621G>A c.(619-621)ACG>ACA p.T207T PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Intron|CPSF4_uc003uqk.2_Intron|CPSF4_uc011kix.1_Intron NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 207 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCCAGTTAACGAGTCAGAACT 0.537 NA 9 290 0 0 0.008291 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:114270000G>A uc003vhb.2 + 5 911 c.537G>A c.(535-537)CAG>CAA p.Q179Q FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q204Q|FOXP2_uc003vha.2_Silent_p.Q87Q|FOXP2_uc011kmu.1_Silent_p.Q196Q|FOXP2_uc011kmv.1_Silent_p.Q179Q|FOXP2_uc010ljz.1_Silent_p.Q87Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhd.2_Silent_p.Q179Q|FOXP2_uc003vhc.2_Silent_p.Q204Q NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 agcaacaacagcagcagcagc 0.159 NA 3 32 0 0 0.004672 0 0 CFTR 1080 broad.mit.edu 37 7 117267754 117267754 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:117267754C>A uc003vjd.2 + 22 3779 c.3647C>A c.(3646-3648)ACA>AAA p.T1216K CFTR_uc011knq.1_Missense_Mutation_p.T622K NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1216 Cytoplasmic (Potential).|ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AAAGATCTCACAGCAAAATAC 0.423 NA Cystic_Fibrosis 3 59 2.56e-06 3.08966e-06 0.009096 1 0 TMEM139 135932 broad.mit.edu 37 7 142983074 142983074 + Silent SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:142983074G>C uc010lov.2 + 3 163 c.24G>C c.(22-24)GGG>GGC p.G8G CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Silent_p.G8G|TMEM139_uc003wcl.2_Silent_p.G8G|TMEM139_uc003wcm.2_Silent_p.G8G|TMEM139_uc003wcn.2_Intron NM_153345 NP_699176 Q8IV31 TM139_HUMAN transmembrane protein 139 precursor 8 integral to membrane 0 Melanoma(164;0.059) ACTTACTGGGGAGACTGGAGA 0.552 NA 8 54 0 0 0.00308 0 0 CTAGE4 100128553 broad.mit.edu 37 7 143882715 143882715 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:143882715C>A uc010lpc.2 + 1 2168 c.2119C>A c.(2119-2121)CCA>ACA p.P707T NM_198495 NP_940897 Q8IX94 CTGE4_HUMAN CTAGE family, member 4 707 Pro-rich. integral to membrane 0 TCCATTGTTTCCAGTGGATAC 0.502 NA 9 359 1.08611e-07 1.35763e-07 0.010729 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146536856 146536856 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:146536856G>C uc003weu.1 + 3 778 c.262G>C c.(262-264)GAC>CAC p.D88H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 88 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCTTCAGGTTGACTTTGGCAA 0.483 NA HNSCC(39;0.1) 10 48 0 0 0.010729 0 0 ASB10 136371 broad.mit.edu 37 7 150883748 150883748 + Splice_Site SNP T T G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:150883748T>G uc003wjm.1 - 2 578 c.452_splice c.e2-1 p.R151_splice ASB10_uc003wjl.1_Splice_Site_p.R151_splice|ASB10_uc003wjn.1_Splice_Site_p.G91_splice NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCAGAGTCCTAGGGAGGGGA 0.652 NA 4 20 0 0 0.000602 0 0 NCAPG2 54892 broad.mit.edu 37 7 158449054 158449054 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr7:158449054G>A uc003wnv.1 - 19 2431 c.2286C>T c.(2284-2286)GTC>GTT p.V762V NCAPG2_uc010lqu.1_Silent_p.V554V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.V762V|NCAPG2_uc011kwe.1_Silent_p.V762V|NCAPG2_uc011kwc.1_Silent_p.V263V|NCAPG2_uc011kwd.1_Silent_p.V205V NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 762 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ACTCAATGTAGACCAATGCCA 0.453 NA 9 75 0 0 0.008291 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38810885 38810885 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:38810885G>T uc003xmi.3 + 9 1007 c.773G>T c.(772-774)GGT>GTT p.G258V PLEKHA2_uc011lce.1_Missense_Mutation_p.G208V NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A 258 PH 2. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding 0 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) GTCAAGTCTGGGTAATTGTGT 0.428 NA 12 141 1.05317e-09 1.38807e-09 0.00245 1 0 IKBKB 3551 broad.mit.edu 37 8 42183567 42183567 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:42183567C>G uc003xow.1 + 20 2243 c.2066C>G c.(2065-2067)TCT>TGT p.S689C IKBKB_uc010lxj.1_Missense_Mutation_p.S466C|IKBKB_uc003xox.1_Missense_Mutation_p.S410C|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.S687C|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.S630C NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 689 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CAGCTGATGTCTCAGCCCTCC 0.562 NA 27 29 0 0 0.005443 0 0 NCOA2 10499 broad.mit.edu 37 8 71068640 71068640 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:71068640G>C uc003xyn.1 - 11 2122 c.1960C>G c.(1960-1962)CCC>GCC p.P654A NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 654 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AAGGGCGAGGGCTCCATCTGA 0.547 NA T RUNXBP2 AML 38 61 0 0 0.007835 0 0 EYA1 2138 broad.mit.edu 37 8 72211347 72211347 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:72211347G>T uc003xys.3 - 8 1048 c.761C>A c.(760-762)GCC>GAC p.A254D EYA1_uc003xyr.3_Missense_Mutation_p.A249D|EYA1_uc003xyt.3_Missense_Mutation_p.A221D|EYA1_uc010lzf.2_Missense_Mutation_p.A181D|EYA1_uc003xyu.2_Missense_Mutation_p.A254D|EYA1_uc011lfe.1_Missense_Mutation_p.A248D|EYA1_uc003xyv.2_Missense_Mutation_p.A132D NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 254 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGGTAAGTGGCATTGGTGGA 0.483 NA 10 232 4.36969e-10 5.93298e-10 0.001855 1 0 HNF4G 3174 broad.mit.edu 37 8 76470800 76470800 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:76470800C>T uc003yaq.2 + 8 910 c.640C>T c.(640-642)CGT>TGT p.R214C HNF4G_uc003yar.2_Missense_Mutation_p.R251C NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 214 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TGAGATTAGCCGTGTGGCCAA 0.358 NA 23 757 0 0 0.00333 0 0 ADCY8 114 broad.mit.edu 37 8 131792846 131792846 + Silent SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:131792846G>T uc003ytd.3 - 18 3802 c.3546C>A c.(3544-3546)CCC>CCA p.P1182P ADCY8_uc010mds.2_Silent_p.P1051P NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1182 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCTTCTTGGGGGCAAGATGA 0.512 NA HNSCC(32;0.087) 6 133 3.59834e-05 4.19806e-05 0.001168 1 0 EPPK1 83481 broad.mit.edu 37 8 144946569 144946569 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr8:144946569C>T uc003zaa.1 - 1 866 c.853G>A c.(853-855)GGC>AGC p.G285S NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 285 Plectin 6. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACGCTGCCGGTACCCTCC 0.682 NA 5 68 0 0 0.000602 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:732477G>A uc003zgl.1 + 10 3754 c.3105G>A c.(3103-3105)GAG>GAA p.E1035E KANK1_uc003zgm.2_3'UTR|KANK1_uc003zgn.1_Silent_p.E1035E|KANK1_uc003zgs.1_Silent_p.E877E|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 1035 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468 NA 4 117 0 0 0.000602 0 0 BNC2 54796 broad.mit.edu 37 9 16738407 16738407 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:16738407G>T uc003zml.2 - 2 220 c.80C>A c.(79-81)CCA>CAA p.P27Q BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Intron|BNC2_uc003zmq.1_Missense_Mutation_p.P41Q|BNC2_uc003zmr.1_Missense_Mutation_p.P27Q|BNC2_uc003zmp.1_Missense_Mutation_p.P27Q|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GAAATATGCTGGCCAGTCTTG 0.443 NA 6 40 0.00116845 0.00128692 0.001168 1 0 RPS6 6194 broad.mit.edu 37 9 19379600 19379600 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:19379600G>A uc003znv.1 - 2 65 c.23C>T c.(22-24)CCA>CTA p.P8L RPS6_uc003znu.1_5'UTR|RPS6_uc003znw.1_5'UTR NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 8 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) GCCAGTGGCTGGGAAGGAGAT 0.443 NA 5 118 0 0 0.00308 0 0 IFNB1 3456 broad.mit.edu 37 9 21077496 21077496 + Nonsense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:21077496C>A uc003zok.2 - 1 448 c.373G>T c.(373-375)GAA>TAA p.E125* NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 125 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TCCAGTTTTTCTTCCAGGACT 0.433 NA 47 156 5.82388e-19 8.37682e-19 0.01441 1 0 C9orf24 84688 broad.mit.edu 37 9 34379708 34379708 + Missense_Mutation SNP G G C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:34379708G>C uc003zuh.1 - 6 943 c.725C>G c.(724-726)CCG>CGG p.P242R KIAA1161_uc003zue.3_5'Flank|C9orf24_uc003zug.1_Missense_Mutation_p.P107R|C9orf24_uc003zuf.1_Missense_Mutation_p.R56G|C9orf24_uc003zui.1_3'UTR NM_032596 NP_115985 Q8NCR6 CI024_HUMAN testes development-related NYD-SP22 isoform 1 242 ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) ATTCCGGGCCGGTGCTCGTAG 0.567 NA OREG0019150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 96 0 0 0.004482 0 0 UBQLN1 29979 broad.mit.edu 37 9 86294696 86294696 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:86294696C>T uc004amv.2 - 4 1279 c.705G>A c.(703-705)ATG>ATA p.M235I UBQLN1_uc004amw.2_Missense_Mutation_p.M235I NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN ubiquilin 1 isoform 1 235 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding 0 ATACTTGTCTCATTATATCTG 0.323 Melanoma(186;1284 2073 12755 14558 18426) NA 11 54 0 0 0.008291 0 0 FAM75C1 441452 broad.mit.edu 37 9 90535394 90535394 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:90535394C>T uc010mqi.2 + 4 601 c.572C>T c.(571-573)TCC>TTC p.S191F FAM75C1_uc004apq.3_Missense_Mutation_p.S174F NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 ACCTCAGTCTCCTCCCTAAGT 0.612 NA 21 193 0 0 0.010818 0 0 ECM2 1842 broad.mit.edu 37 9 95264875 95264875 + Silent SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:95264875G>A uc004ash.2 - 8 1589 c.1524C>T c.(1522-1524)ACC>ACT p.T508T CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.T486T|ECM2_uc011lty.1_Silent_p.T508T|ECM2_uc004asg.2_Silent_p.T486T|ECM2_uc010mqz.1_Intron NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 508 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 TGATCTTTCTGGTATGATTGA 0.274 NA 6 25 0 0 0.001168 0 0 PTCH1 5727 broad.mit.edu 37 9 98220516 98220516 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:98220516C>T uc004avk.3 - 18 3135 c.2947G>A c.(2947-2949)GAC>AAC p.D983N PTCH1_uc010mro.2_Missense_Mutation_p.D832N|PTCH1_uc010mrp.2_Missense_Mutation_p.D832N|PTCH1_uc010mrq.2_Missense_Mutation_p.D832N|PTCH1_uc004avl.3_Missense_Mutation_p.D832N|PTCH1_uc010mrr.2_Missense_Mutation_p.D917N|PTCH1_uc004avm.3_Missense_Mutation_p.D982N NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 983 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.I963fs*2(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TCTGAGGTGTCCCGCAAGCCG 0.567 NA Basal_Cell_Nevus_syndrome 5 22 0 0 0.000602 0 0 NCBP1 4686 broad.mit.edu 37 9 100433388 100433388 + Missense_Mutation SNP G G T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:100433388G>T uc004axq.2 + 23 2739 c.2280G>T c.(2278-2280)CAG>CAT p.Q760H NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 760 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) TAATCCAGCAGTACATGGTGA 0.483 Ovarian(36;879 898 2893 44212 50307) NA 9 72 1.61879e-10 2.20744e-10 0.013537 1 0 TBC1D2 55357 broad.mit.edu 37 9 101014085 101014085 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:101014085C>T uc011lvb.1 - 2 673 c.493G>A c.(493-495)GTC>ATC p.V165I TBC1D2_uc004ayq.2_Missense_Mutation_p.V165I|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.V165I NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 165 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGTGCAGGACGGGCCCATTC 0.637 NA 31 48 0 0 0.012213 0 0 OR13C9 286362 broad.mit.edu 37 9 107380196 107380196 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:107380196C>G uc011lvr.1 - 1 290 c.290G>C c.(289-291)TGT>TCT p.C97S NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGCACTGCACAGCCAGAAAA 0.517 NA 19 111 0 0 0.008871 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136310829 136310829 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:136310829A>G uc004cdv.3 + 21 3064 c.2620A>G c.(2620-2622)ACC>GCC p.T874A ADAMTS13_uc004cdp.3_Missense_Mutation_p.T101A|ADAMTS13_uc004cdt.1_Missense_Mutation_p.T874A|ADAMTS13_uc004cdu.1_Missense_Mutation_p.T843A|ADAMTS13_uc004cdw.3_Missense_Mutation_p.T874A|ADAMTS13_uc004cdx.3_Missense_Mutation_p.T843A|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.T544A|ADAMTS13_uc004cds.1_Missense_Mutation_p.T399A|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 874 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCTGGATGCCACCTCTGCAGG 0.647 NA 12 19 0 0 0.010729 0 0 LCN1 3933 broad.mit.edu 37 9 138413352 138413352 + Silent SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:138413352C>G uc004cfz.1 + 1 67 c.9C>G c.(7-9)CCC>CCG p.P3P LCN1_uc004cga.1_Silent_p.P3P NM_002297 NP_002288 P31025 LCN1_HUMAN lipocalin 1 precursor 3 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AGATGAAGCCCCTGCTCCTGG 0.652 NA 6 20 0 0 0.004482 0 0 QSOX2 169714 broad.mit.edu 37 9 139110934 139110934 + Missense_Mutation SNP G G A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chr9:139110934G>A uc010nbi.2 - 7 936 c.898C>T c.(898-900)CCT>TCT p.P300S NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 300 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GGCTTTTCAGGCAAGGGAAGC 0.488 NA 21 30 0 0 0.012319 0 0 RAI2 10742 broad.mit.edu 37 X 17820044 17820044 + Missense_Mutation SNP C C A TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:17820044C>A uc004cyf.2 - 3 657 c.87G>T c.(85-87)ATG>ATT p.M29I RAI2_uc004cyg.2_Missense_Mutation_p.M29I|RAI2_uc010nfa.2_Missense_Mutation_p.M29I|RAI2_uc004cyh.3_Missense_Mutation_p.M29I|RAI2_uc011miy.1_Missense_Mutation_p.M29I NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 29 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) TCAGCTGAGCCATGCCATTCT 0.567 NA 27 89 1.08312e-15 1.53686e-15 0.009535 1 0 HUWE1 10075 broad.mit.edu 37 X 53612061 53612061 + Missense_Mutation SNP T T C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:53612061T>C uc004dsp.2 - 40 5314 c.4912A>G c.(4912-4914)ATT>GTT p.I1638V HUWE1_uc004dsn.2_Missense_Mutation_p.I463V NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1638 WWE. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GCAGAATCAATAGTGCTATTG 0.473 NA 24 95 0 0 0.00278 0 0 RLIM 51132 broad.mit.edu 37 X 73815767 73815767 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:73815767C>T uc004ebu.2 - 3 336 c.46G>A c.(46-48)GCA>ACA p.A16T RLIM_uc004ebw.2_Missense_Mutation_p.A16T NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 16 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CGCTGTGCTGCAGACTGATCA 0.378 Esophageal Squamous(169;1899 1923 14997 18818 32118) NA 9 31 0 0 0.013537 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912743 77912743 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:77912743A>G uc004edc.1 - 2 1471 c.1175T>C c.(1174-1176)CTG>CCG p.L392P NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 392 nucleic acid binding|zinc ion binding ovary(1) 1 CTTCTCTTCCAGGCTGATGCA 0.493 NA 15 58 0 0 0.00499 0 0 GPR174 84636 broad.mit.edu 37 X 78427266 78427266 + Missense_Mutation SNP C C G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:78427266C>G uc004edg.1 + 1 798 c.762C>G c.(760-762)TTC>TTG p.F254L NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 254 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 CTTTAGATTTCCTGGTGAAGT 0.388 NA HNSCC(63;0.18) 9 35 0 0 0.006214 0 0 COL4A6 1288 broad.mit.edu 37 X 107404937 107404937 + Silent SNP A A C TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrX:107404937A>C uc004enw.3 - 42 4351 c.4248T>G c.(4246-4248)GGT>GGG p.G1416G COL4A6_uc004env.3_Silent_p.G1415G|COL4A6_uc011msn.1_Silent_p.G1391G|COL4A6_uc010npk.2_Silent_p.G1358G|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1416 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GGCCATCTTTACCGGGGATGC 0.597 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 2 13 0 0 0.004672 0 0 ZFY 7544 broad.mit.edu 37 Y 2829423 2829423 + Missense_Mutation SNP A A T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 969b8cc9-2632-4be2-9358-681312a36c34 36de470c-ab00-4a9b-8ce8-c3751ef9278e g.chrY:2829423A>T uc004fqj.2 + 3 691 c.370A>T c.(370-372)ATT>TTT p.I124F ZFY_uc010nwd.1_Missense_Mutation_p.I124F|ZFY_uc011nan.1_Intron|ZFY_uc010nwe.2_Missense_Mutation_p.I98F NM_003411 NP_003402 P08048 ZFY_HUMAN zinc finger protein, Y-linked isoform 1 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCTTCTGACATTACTTCAAC 0.403 NA 24 132 0 0 0.007291 0 0