Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut ANGPTL7 10218 broad.mit.edu 37 1 11249656 11249656 + Nonsense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:11249656C>G uc001ase.2 + 1 259 c.20C>G c.(19-21)TCA>TGA p.S7* MTOR_uc001asd.2_Intron NM_021146 NP_066969 O43827 ANGL7_HUMAN angiopoietin-like 7 precursor 7 response to oxidative stress|signal transduction extracellular region receptor binding 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) AAGCCTCTCTCAGCTGTGACC 0.557 NA 18 138 0 0 0 0 VPS13D 55187 broad.mit.edu 37 1 12337106 12337106 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:12337106G>A uc001atv.2 + 19 3602 c.3461G>A c.(3460-3462)GGA>GAA p.G1154E VPS13D_uc001atw.2_Missense_Mutation_p.G1154E|VPS13D_uc001atx.2_Missense_Mutation_p.G342E NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1154 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGAGAACAAGGAACTTACCAG 0.393 NA 5 84 0 0 0 0 PADI3 51702 broad.mit.edu 37 1 17609457 17609457 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:17609457C>G uc001bai.2 + 16 1918 c.1878C>G c.(1876-1878)CTC>CTG p.L626L NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 626 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CGCTGGGCCTCCACTGCACCT 0.587 NA 7 54 0 0 0 0 NFYC 4802 broad.mit.edu 37 1 41235027 41235027 + Splice_Site SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:41235027G>A uc001cge.2 + 9 894 c.886_splice c.e9-1 p.I296_splice NFYC_uc001cfx.3_Splice_Site_p.I296_splice|NFYC_uc009vwd.2_Splice_Site_p.I277_splice|NFYC_uc001cfz.2_Splice_Site_p.I277_splice|NFYC_uc010ojn.1_Splice_Site_p.I239_splice|NFYC_uc001cfy.3_Splice_Site_p.I277_splice|NFYC_uc001cgc.2_Splice_Site_p.I243_splice|NFYC_uc001cgb.2_Splice_Site_p.I277_splice|NFYC_uc001cgd.3_Splice_Site_p.I277_splice NM_001142588 NP_001136060 Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma isoform 1 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|kidney(1) 3 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GATTCTTACAGATTACACAGA 0.463 NA 9 93 0 0 0 0 KDM4A 9682 broad.mit.edu 37 1 44137205 44137205 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:44137205G>A uc001cjx.2 + 11 1559 c.1393G>A c.(1393-1395)GAA>AAA p.E465K KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 465 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 AGTCAAATTTGAAGAGCTTAA 0.418 NA 13 110 0 0 0 0 RPS8 6202 broad.mit.edu 37 1 45243773 45243773 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:45243773G>A uc001cmi.2 + 5 512 c.489G>A c.(487-489)GAG>GAA p.E163E SNORD38B_uc001cml.2_5'Flank NM_001012 NP_001003 P62241 RS8_HUMAN ribosomal protein S8 163 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GTCTCCTGGAGGAGCAGTTCC 0.448 NA 3 12 0 0 0 0 DNAJC6 9829 broad.mit.edu 37 1 65858191 65858191 + Nonsense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:65858191G>T uc001dcd.1 + 12 1539 c.1375G>T c.(1375-1377)GAA>TAA p.E459* DNAJC6_uc001dcc.1_Nonsense_Mutation_p.E490*|DNAJC6_uc010opc.1_Nonsense_Mutation_p.E446*|DNAJC6_uc001dce.1_Nonsense_Mutation_p.E516* NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 459 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 ATCAGATGATGAACTTCTGAC 0.512 NA 11 25 1.62e-10 1.76e-10 1 0 ODF2L 57489 broad.mit.edu 37 1 86852635 86852635 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:86852635C>G uc001dll.1 - 2 416 c.76G>C c.(76-78)GAT>CAT p.D26H ODF2L_uc001dlm.1_Missense_Mutation_p.D26H|ODF2L_uc001dln.2_Missense_Mutation_p.D26H|ODF2L_uc001dlo.2_5'UTR|ODF2L_uc001dlp.2_Missense_Mutation_p.D26H|ODF2L_uc010osg.1_Missense_Mutation_p.D26H|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 26 centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) CGTGGTAAATCTTCTTTCTCT 0.358 NA 7 68 0 0 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342038 94342038 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:94342038C>T uc001dqf.2 - 2 1491 c.1453G>A c.(1453-1455)GAC>AAC p.D485N DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D280N NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) AATGCATTGTCACATGACAGA 0.378 NA 23 41 0 0 0 0 GNAT2 2780 broad.mit.edu 37 1 110151357 110151357 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:110151357C>T uc001dya.2 - 4 570 c.357G>A c.(355-357)ATG>ATA p.M119I NM_005272 NP_005263 P19087 GNAT2_HUMAN guanine nucleotide binding protein, alpha 119 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) GCTCAGGAGGCATGGTTCCCT 0.517 NA 21 49 0 0 0 0 SLC16A4 9122 broad.mit.edu 37 1 110921808 110921808 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:110921808C>T uc001dzo.1 - 6 879 c.697G>A c.(697-699)GAA>AAA p.E233K SLC16A4_uc009wfs.1_Missense_Mutation_p.E185K|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Missense_Mutation_p.E171K|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Missense_Mutation_p.E123K NM_004696 NP_004687 O15374 MOT5_HUMAN solute carrier family 16, member 4 233 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity ovary(3) 3 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GTAGACTCTTCTGTCTCATGG 0.423 NA 39 90 0 0 0 0 CA14 23632 broad.mit.edu 37 1 150235226 150235226 + Silent SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:150235226T>G uc001etx.2 + 6 828 c.519T>G c.(517-519)GCT>GCG p.A173A NM_012113 NP_036245 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV precursor 173 Extracellular (Potential). integral to membrane carbonate dehydratase activity|metal ion binding ovary(1) 1 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGAATATAGCTTATGAACACA 0.363 NA 55 91 0 0 0 0 C1orf56 54964 broad.mit.edu 37 1 151021004 151021004 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:151021004C>A uc001ewn.2 + 1 746 c.681C>A c.(679-681)CAC>CAA p.H227Q NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 227 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAAGCTGCACGGCCTTTCCG 0.652 NA OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 83 4.16e-05 4.41e-05 1 0 FLG2 388698 broad.mit.edu 37 1 152324824 152324824 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:152324824G>A uc001ezw.3 - 3 5511 c.5438C>T c.(5437-5439)TCA>TTA p.S1813L uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1813 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGAACCCTGAGTGCCCTTC 0.537 NA 61 149 0 0 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166083 161166083 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:161166083C>A uc001fyt.3 - 3 1396 c.968G>T c.(967-969)GGA>GTA p.G323V ADAMTS4_uc001fyu.2_3'UTR NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 323 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGTGGAGACTCCACACAGGTC 0.597 NA 12 59 3.07e-06 3.27e-06 1 0 DDR2 4921 broad.mit.edu 37 1 162749994 162749994 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:162749994C>G uc001gcf.2 + 19 2991 c.2526C>G c.(2524-2526)TTC>TTG p.F842L DDR2_uc001gcg.2_Missense_Mutation_p.F842L|uc001gch.1_5'Flank NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 842 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GTCCCTCATTCCAAGAAATCC 0.522 NA 8 98 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196658599 196658599 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:196658599G>A uc001gtj.3 + 8 1254 c.1014G>A c.(1012-1014)GAG>GAA p.E338E CFH_uc001gti.3_Silent_p.E338E|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Silent_p.E274E NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 338 Sushi 6. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TATATCATGAGAATATGCGTA 0.313 NA 12 62 0 0 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198509756 198509756 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:198509756G>A uc001gup.2 - 2 131 c.25C>T c.(25-27)CAC>TAC p.H9Y ATP6V1G3_uc009wzd.2_Missense_Mutation_p.H9Y|ATP6V1G3_uc001guo.2_Missense_Mutation_p.H9Y NM_133262 NP_573569 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal, V1 subunit 9 Potential. cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1) 1 AGAAGCTGGTGGATCCCCTGA 0.448 NA 43 70 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200549426 200549426 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:200549426C>G uc010ppk.1 - 21 3860 c.3421G>C c.(3421-3423)GAA>CAA p.E1141Q KIF14_uc010ppj.1_Missense_Mutation_p.E650Q NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1141 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TCAAACTTTTCCAGACTCCAG 0.264 NA 6 16 0 0 0 0 LMOD1 25802 broad.mit.edu 37 1 201868676 201868676 + Missense_Mutation SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:201868676T>G uc001gxb.2 - 2 1713 c.1465A>C c.(1465-1467)AAG>CAG p.K489Q LMOD1_uc010ppu.1_Missense_Mutation_p.K438Q NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 489 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 TTCTCTCCCTTGGCTTCCTGT 0.592 NA 11 16 0 0 0 0 C4BPA 722 broad.mit.edu 37 1 207286390 207286390 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:207286390C>T uc001hfo.2 + 2 214 c.20C>T c.(19-21)CCA>CTA p.P7L NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 7 complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CCAAAAACTCCATCTGGGGCT 0.393 NA 16 32 0 0 0 0 MTR 4548 broad.mit.edu 37 1 236995364 236995364 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:236995364G>T uc001hyi.3 + 13 1597 c.1174G>T c.(1174-1176)GCA>TCA p.A392S MTR_uc010pxw.1_Intron|MTR_uc010pxx.1_Missense_Mutation_p.A392S|MTR_uc010pxy.1_Missense_Mutation_p.A392S NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 392 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) ACTCATCATGGCAGGAAACTA 0.448 NA 6 48 2.01e-06 2.15e-06 1 0 EXO1 9156 broad.mit.edu 37 1 242045251 242045251 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:242045251C>T uc001hzh.2 + 14 2683 c.2143C>T c.(2143-2145)CAA>TAA p.Q715* EXO1_uc001hzi.2_Nonsense_Mutation_p.Q715*|EXO1_uc001hzj.2_Nonsense_Mutation_p.Q715*|EXO1_uc009xgq.2_Nonsense_Mutation_p.Q714* NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 715 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACTTGACAGTCAAAGTGACCA 0.279 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 4 44 0 0 0 0 OR2M2 391194 broad.mit.edu 37 1 248343777 248343777 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr1:248343777T>C uc010pzf.1 + 1 490 c.490T>C c.(490-492)TTT>CTT p.F164L NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 164 Extracellular (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) TGTAGCCACATTTTCCTTCTC 0.418 NA 115 182 0 0 0 0 FBXO18 84893 broad.mit.edu 37 10 5956205 5956205 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:5956205C>T uc001iis.2 + 8 1464 c.1369C>T c.(1369-1371)CAG>TAG p.Q457* FBXO18_uc001iir.2_Nonsense_Mutation_p.Q383*|FBXO18_uc009xig.2_Nonsense_Mutation_p.Q383*|FBXO18_uc001iit.2_Nonsense_Mutation_p.Q508* NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 457 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GGAACCTCTCCAGGTGGTGAA 0.448 NA 9 86 0 0 0 0 APBB1IP 54518 broad.mit.edu 37 10 26789781 26789781 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:26789781A>G uc001iss.2 + 5 515 c.194A>G c.(193-195)GAT>GGT p.D65G APBB1IP_uc001isr.2_Missense_Mutation_p.D65G|APBB1IP_uc009xks.1_Missense_Mutation_p.D65G NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 65 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CAAGATTTAGATGCTCTCATG 0.403 NA 14 51 0 0 0 0 MASTL 84930 broad.mit.edu 37 10 27459563 27459563 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:27459563G>A uc001itm.2 + 8 2314 c.1675G>A c.(1675-1677)GAT>AAT p.D559N MASTL_uc001itl.2_Missense_Mutation_p.D559N|MASTL_uc009xkw.1_Missense_Mutation_p.D559N|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 559 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TTCTGATGATGATAGAGCTTC 0.333 NA 14 51 0 0 0 0 ANK3 288 broad.mit.edu 37 10 62029966 62029966 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:62029966T>C uc001jky.2 - 5 628 c.436A>G c.(436-438)ATG>GTG p.M146V ANK3_uc010qih.1_Missense_Mutation_p.M129V|ANK3_uc001jkz.3_Missense_Mutation_p.M140V|ANK3_uc001jlb.1_Translation_Start_Site NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 146 ANK 3. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGGGCTGCCATATACAATGGC 0.398 NA 19 33 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63816914 63816914 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:63816914G>C uc001jlt.1 + 6 911 c.885G>C c.(883-885)AAG>AAC p.K295N ARID5B_uc001jlu.1_Missense_Mutation_p.K52N NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 295 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) CCAAGCCGAAGAATAACCATA 0.458 NA 18 22 0 0 0 0 HERC4 26091 broad.mit.edu 37 10 69699408 69699408 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:69699408G>A uc001jng.3 - 22 2843 c.2532C>T c.(2530-2532)AGC>AGT p.S844S HERC4_uc009xpq.2_Silent_p.S376S|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.S836S|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Silent_p.S580S NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 844 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 ACTGTTGCATGCTTCTGCAAA 0.284 NA 10 34 0 0 0 0 HKDC1 80201 broad.mit.edu 37 10 71000451 71000451 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:71000451G>A uc001jpf.3 + 6 768 c.635G>A c.(634-636)GGG>GAG p.G212E HKDC1_uc010qje.1_Missense_Mutation_p.G75E NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 212 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 GACACCGTGGGGACCATGATG 0.562 NA 29 41 0 0 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143656 91143656 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:91143656G>A uc001kgh.2 + 2 666 c.586G>A c.(586-588)GGG>AGG p.G196R LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN interferon-induced protein with 196 TPR 4. binding 0 CACAGCATCAGGGAGGAATAA 0.453 NA 43 211 0 0 0 0 SMC3 9126 broad.mit.edu 37 10 112356208 112356208 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:112356208G>A uc001kze.2 + 19 2142 c.2016G>A c.(2014-2016)AGG>AGA p.R672R NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 672 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATGACACAAGGAAGTCTCGAC 0.373 NA 28 53 0 0 0 0 EBF3 253738 broad.mit.edu 37 10 131641455 131641455 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:131641455C>T uc001lki.1 - 12 1172 c.1113G>A c.(1111-1113)CTG>CTA p.L371L NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 380 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCGCCCGCTTCAGTAACACCT 0.602 NA 4 10 0 0 0 0 ECHS1 1892 broad.mit.edu 37 10 135176399 135176399 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:135176399C>G uc001lmu.2 - 8 917 c.846G>C c.(844-846)AAG>AAC p.K282N NM_004092 NP_004083 P30084 ECHM_HUMAN mitochondrial short-chain enoyl-coenzyme A 282 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) TGGCCTTTCTCTTTTCCACAA 0.517 NA 4 75 0 0 0 0 TEAD1 7003 broad.mit.edu 37 11 12785959 12785959 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:12785959A>T uc001mkj.3 + 3 800 c.135A>T c.(133-135)TTA>TTT p.L45F NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 60 TEA. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AAATCATCTTATCAGACGAAG 0.488 NA 23 42 0 0 0 0 CYP2R1 120227 broad.mit.edu 37 11 14907463 14907463 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:14907463T>A uc001mlr.2 - 2 226 c.226A>T c.(226-228)ATC>TTC p.I76F CYP2R1_uc001mlo.2_5'UTR|CYP2R1_uc001mlp.2_5'UTR|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Missense_Mutation_p.I21F NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 76 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) AAACTGAAGATCTTTGAGAAG 0.373 NA 14 33 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22248857 22248857 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:22248857G>C uc001mqi.2 + 7 690 c.373G>C c.(373-375)GAT>CAT p.D125H ANO5_uc001mqj.2_Missense_Mutation_p.D124H NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 125 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GGACTCGGAAGATGGAAGAAC 0.348 NA 38 97 0 0 0 0 OR4B1 119765 broad.mit.edu 37 11 48238839 48238839 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:48238839G>A uc010rhs.1 + 1 478 c.478G>A c.(478-480)GTT>ATT p.V160I NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 TCAGATTCTCGTTATCATCCA 0.468 NA 38 77 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653074 55653074 + Missense_Mutation SNP A A C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:55653074A>C uc010rip.1 + 2 262 c.170A>C c.(169-171)AAG>ACG p.K57T SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 57 intracellular zinc ion binding 0 all_epithelial(135;0.226) GAATGCAAGAAGACAACGCGG 0.512 NA 4 14 0 0 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735780 55735780 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:55735780G>C uc010rit.1 - 1 160 c.160C>G c.(160-162)CTT>GTT p.L54V NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 54 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AAATTGCTAAGAAAAAAATAC 0.328 NA 15 81 0 0 0 0 INTS5 80789 broad.mit.edu 37 11 62416825 62416825 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:62416825G>A uc001nud.2 - 2 780 c.727C>T c.(727-729)CTC>TTC p.L243F GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 243 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CCACAGGAGAGAACCCGGGAA 0.542 NA 21 50 0 0 0 0 NPAS4 266743 broad.mit.edu 37 11 66191403 66191403 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:66191403G>A uc001ohx.1 + 7 1218 c.1042G>A c.(1042-1044)GAA>AAA p.E348K NPAS4_uc010rpc.1_Missense_Mutation_p.E138K NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 348 transcription, DNA-dependent DNA binding|signal transducer activity 0 CTCATTCCCTGAAAACATTCT 0.577 NA 29 181 0 0 0 0 ACER3 55331 broad.mit.edu 37 11 76709867 76709867 + Splice_Site SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:76709867T>C uc009yum.1 + 7 601 c.497_splice c.e7+2 p.W166_splice ACER3_uc010rsg.1_Splice_Site_p.W124_splice|ACER3_uc009yul.1_Splice_Site|ACER3_uc001oxu.2_Splice_Site|ACER3_uc009yun.1_Splice_Site_p.W124_splice|ACER3_uc009yuo.1_Splice_Site_p.W71_splice|ACER3_uc010rsh.1_Splice_Site_p.W129_splice|ACER3_uc010rsi.1_Splice_Site_p.W71_splice|ACER3_uc010rsj.1_Splice_Site_p.W71_splice NM_018367 NP_060837 Q9NUN7 ACER3_HUMAN phytoceramidase, alkaline ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity 0 TGTTACATGGTAAGTAGTTTG 0.318 NA 7 29 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92624013 92624013 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:92624013G>A uc001pdj.3 + 25 13425 c.13408G>A c.(13408-13410)GAA>AAA p.E4470K FAT3_uc001pdi.3_Missense_Mutation_p.E942K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4502 Pro-rich.|Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCCCCAACGAAACGGATTT 0.592 NA TCGA Ovarian(4;0.039) 17 29 0 0 0 0 SLC35F2 54733 broad.mit.edu 37 11 107676147 107676147 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:107676147C>T uc001pjq.2 - 5 1090 c.669G>A c.(667-669)CTG>CTA p.L223L SLC35F2_uc010rvu.1_Silent_p.L75L|SLC35F2_uc001pjs.2_3'UTR NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 223 transport integral to membrane central_nervous_system(1) 1 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CCTGTCTGCTCAGCTTCTTCA 0.408 NA 5 46 0 0 0 0 SIK3 23387 broad.mit.edu 37 11 116729228 116729228 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:116729228G>C uc001ppy.2 - 20 2671 c.2635C>G c.(2635-2637)CAG>GAG p.Q879E SIK3_uc001ppz.2_Missense_Mutation_p.Q718E|SIK3_uc001pqa.2_Missense_Mutation_p.Q819E|SIK3_uc001ppw.2_Missense_Mutation_p.Q236E|SIK3_uc001ppx.2_Missense_Mutation_p.Q257E|SIK3_uc001pqb.2_Missense_Mutation_p.Q182E NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 879 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.R879R(1) ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GGCGGCTGCTGATGTGCACTG 0.587 NA 12 107 0 0 0 0 OR6T1 219874 broad.mit.edu 37 11 123814028 123814028 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:123814028C>A uc010sab.1 - 1 518 c.518G>T c.(517-519)GGT>GTT p.G173V NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGGTCAATACCATTGGGGCC 0.562 NA 25 21 7.76e-22 8.56e-22 1 0 PRDM10 56980 broad.mit.edu 37 11 129780421 129780421 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr11:129780421G>A uc001qfm.2 - 20 3357 c.3125C>T c.(3124-3126)TCT>TTT p.S1042F PRDM10_uc001qfj.2_Missense_Mutation_p.S943F|PRDM10_uc001qfk.2_Missense_Mutation_p.S905F|PRDM10_uc001qfl.2_Missense_Mutation_p.S956F|PRDM10_uc010sbx.1_Missense_Mutation_p.S952F|PRDM10_uc001qfn.2_Missense_Mutation_p.S1038F NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 1029 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GTGCTGCACAGAGGAATTctg 0.522 NA 11 45 0 0 0 0 IFLTD1 160492 broad.mit.edu 37 12 25702360 25702360 + Nonsense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:25702360A>T uc001rgs.2 - 2 297 c.147T>A c.(145-147)TAT>TAA p.Y49* IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Nonsense_Mutation_p.Y70*|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.Y70* NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 49 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GACTAGACAGATAGTAACCAA 0.398 NA 22 37 0 0 0 0 RASSF8 11228 broad.mit.edu 37 12 26217552 26217552 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:26217552C>G uc001rgx.2 + 3 446 c.225C>G c.(223-225)CTC>CTG p.L75L RASSF8_uc001rgy.2_Silent_p.L75L|RASSF8_uc001rgz.2_Silent_p.L75L|RASSF8_uc009zjd.1_Silent_p.L75L|RASSF8_uc009zje.1_Silent_p.L75L NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 75 Ras-associating. signal transduction 0 Colorectal(261;0.0847) ATGTGCAGCTCATTCTACGAC 0.463 NA 21 109 0 0 0 0 C12orf35 55196 broad.mit.edu 37 12 32135856 32135856 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:32135856C>T uc001rks.2 + 4 2381 c.1967C>T c.(1966-1968)TCA>TTA p.S656L NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 656 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CAAGAATCCTCAACAAAAGGA 0.423 NA 6 59 0 0 0 0 NELL2 4753 broad.mit.edu 37 12 45173642 45173642 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:45173642C>T uc001rog.2 - 4 1094 c.499G>A c.(499-501)GAC>AAC p.D167N NELL2_uc001rof.3_Missense_Mutation_p.D166N|NELL2_uc001roh.2_Missense_Mutation_p.D167N|NELL2_uc009zkd.2_Missense_Mutation_p.D166N|NELL2_uc010skz.1_Missense_Mutation_p.D217N|NELL2_uc010sla.1_Missense_Mutation_p.D190N|NELL2_uc001roi.1_Missense_Mutation_p.D167N|NELL2_uc010slb.1_Missense_Mutation_p.D166N|NELL2_uc001roj.2_Missense_Mutation_p.D167N NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 167 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTATTGCAGTCAATGTGTAAA 0.403 NA 8 82 0 0 0 0 DDX23 9416 broad.mit.edu 37 12 49225034 49225034 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:49225034G>C uc001rsm.2 - 16 2221 c.2130C>G c.(2128-2130)CTC>CTG p.L710L NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 710 Helicase C-terminal. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 CCCCAGCCTTGAGGTTGGACA 0.483 NA 19 146 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52099309 52099309 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:52099309G>A uc001ryw.2 + 10 1421 c.1243G>A c.(1243-1245)GAA>AAA p.E415K SCN8A_uc010snl.1_Missense_Mutation_p.E280K|SCN8A_uc001ryx.1_Missense_Mutation_p.E280K|SCN8A_uc001ryz.1_Missense_Mutation_p.E280K|SCN8A_uc001ryy.2_Missense_Mutation_p.E280K NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 415 I. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CATGGCTTATGAAGAACAGAA 0.453 NA 4 33 0 0 0 0 MYF5 4617 broad.mit.edu 37 12 81112735 81112735 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:81112735C>A uc001szg.2 + 3 808 c.673C>A c.(673-675)CAG>AAG p.Q225K NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 225 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GTTGCCTCTCCAGGATCTGGC 0.488 NA 25 60 7.42e-09 8e-09 1 0 CUX2 23316 broad.mit.edu 37 12 111785464 111785464 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:111785464G>A uc001tsa.1 + 22 3949 c.3796G>A c.(3796-3798)GAG>AAG p.E1266K NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1266 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CTCTGAGACTGAGGACCAGAA 0.622 NA 11 32 0 0 0 0 TRIAP1 51499 broad.mit.edu 37 12 120882720 120882720 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:120882720C>T uc001tyg.2 - 2 226 c.186G>A c.(184-186)CTG>CTA p.L62L GATC_uc010szi.1_5'Flank NM_016399 NP_057483 O43715 TRIA1_HUMAN p53-inducible cell-survival factor 62 anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest mitochondrion|perinuclear region of cytoplasm caspase inhibitor activity|protein binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCATGAACTCCAGTCCTTCAA 0.403 NA 32 156 0 0 0 0 CLIP1 6249 broad.mit.edu 37 12 122794385 122794385 + Nonsense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr12:122794385G>T uc001ucg.1 - 19 3624 c.3518C>A c.(3517-3519)TCA>TAA p.S1173* CLIP1_uc001uch.1_Nonsense_Mutation_p.S1162*|CLIP1_uc001uci.1_Nonsense_Mutation_p.S1127*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.S748* NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1173 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGCAACGCTGAAAGCTGCTG 0.507 NA 19 39 6.94e-10 7.53e-10 1 0 DIAPH3 81624 broad.mit.edu 37 13 60557957 60557957 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr13:60557957C>A uc001vht.2 - 13 1645 c.1426G>T c.(1426-1428)GAT>TAT p.D476Y DIAPH3_uc001vhu.2_Missense_Mutation_p.D213Y|DIAPH3_uc001vhv.2_Missense_Mutation_p.D54Y NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 476 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAGTCTGGATCCATTCCATCT 0.294 NA 31 68 3.04e-20 3.35e-20 1 0 NGDN 25983 broad.mit.edu 37 14 23945265 23945265 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:23945265G>A uc001wjy.2 + 7 475 c.448G>A c.(448-450)GAA>AAA p.E150K NGDN_uc001wjz.2_Missense_Mutation_p.E150K|NGDN_uc001wka.2_5'Flank NM_001042635 NP_001036100 Q8NEJ9 NGDN_HUMAN neuroguidin isoform 1 150 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GGAGGAAGATGAAGCAGAAGA 0.423 NA 5 61 0 0 0 0 RIN3 79890 broad.mit.edu 37 14 93118912 93118912 + Silent SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:93118912T>A uc001yap.2 + 6 1670 c.1518T>A c.(1516-1518)TCT>TCA p.S506S RIN3_uc010auk.2_Silent_p.S168S|RIN3_uc001yaq.2_Silent_p.S431S|RIN3_uc001yar.1_Silent_p.S168S|RIN3_uc001yas.1_Silent_p.S168S NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 506 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GCCCTGCTTCTCAGGCTGGGA 0.652 NA 20 40 0 0 0 0 ATG2B 55102 broad.mit.edu 37 14 96807957 96807957 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:96807957C>T uc001yfi.2 - 6 1191 c.826G>A c.(826-828)GAG>AAG p.E276K NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 276 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGTGCTATCTCTGGTAAATTT 0.438 NA 16 82 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418065 105418066 + Missense_Mutation DNP GC GC AA TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:105418065_105418066GC>AA uc010axc.1 - 7 3842_3843 c.3722_3723GC>TT c.(3721-3723)GGC>GTT p.G1241V AHNAK2_uc001ypx.2_Missense_Mutation_p.G1141V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1241 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCCTTTGAAGCCGGCTCCCTC 0.639 NA 78 36 0 0 0 0 MKRN3 7681 broad.mit.edu 37 15 23812217 23812217 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:23812217C>A uc001ywh.3 + 1 1764 c.1288C>A c.(1288-1290)CCT>ACT p.P430T MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 430 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGGAGATGAGCCTCCTGGGCC 0.522 NA 15 46 5.01e-05 5.3e-05 1 0 LCMT2 9836 broad.mit.edu 37 15 43622164 43622164 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:43622164G>A uc001zrg.2 - 1 728 c.524C>T c.(523-525)GCG>GTG p.A175V LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 175 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GTCGAGCCCCGCGGCGCCCAG 0.716 NA 23 28 0 0 0 0 GNB5 10681 broad.mit.edu 37 15 52446255 52446255 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:52446255C>T uc002abt.1 - 4 322 c.257G>A c.(256-258)CGG>CAG p.R86Q GNB5_uc002abr.1_Missense_Mutation_p.R44Q|GNB5_uc002abs.1_Missense_Mutation_p.R44Q|GNB5_uc002abu.3_Missense_Mutation_p.R44Q NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 86 heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) GGCCTCCACCCGCTCCGCCAC 0.562 NA 9 29 0 0 0 0 MYO5A 4644 broad.mit.edu 37 15 52609388 52609388 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:52609388G>C uc002aby.2 - 39 5435 c.5191C>G c.(5191-5193)CGT>GGT p.R1731G MYO5A_uc002abx.3_Missense_Mutation_p.R1704G|MYO5A_uc010ugd.1_Missense_Mutation_p.R453G NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1731 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TTCTTGTCACGCAGCCATTCT 0.368 NA 7 50 0 0 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105240 75105240 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:75105240C>G uc002ayt.1 + 1 47 c.45C>G c.(43-45)CTC>CTG p.L15L LMAN1L_uc010bkd.2_Intron|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.L15L NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 15 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 GCCTTCTCCTCCTGCTCCTGG 0.632 NA 33 60 0 0 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105354 75105354 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:75105354C>T uc002ayt.1 + 1 161 c.159C>T c.(157-159)TTC>TTT p.F53F LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Silent_p.F53F NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 53 Lumenal (Potential).|L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 GAATACCCTTCTGGAGCCATC 0.617 NA 23 31 0 0 0 0 FURIN 5045 broad.mit.edu 37 15 91422758 91422758 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:91422758C>G uc002bpu.1 + 10 1354 c.1138C>G c.(1138-1140)CTC>GTC p.L380V NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 380 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CATCATTGCTCTCACCCTGGA 0.627 NA 4 31 0 0 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981732 92981732 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr15:92981732C>T uc002bra.2 + 4 595 c.440C>T c.(439-441)TCG>TTG p.S147L ST8SIA2_uc002brb.2_Missense_Mutation_p.S126L NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 147 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CCCAGGACTTCGCCACTGAAG 0.537 NA 9 106 0 0 0 0 KIAA0556 23247 broad.mit.edu 37 16 27720105 27720105 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:27720105C>T uc002dow.2 + 13 1493 c.1469C>T c.(1468-1470)TCG>TTG p.S490L KIAA0556_uc002dox.1_Missense_Mutation_p.S398L NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 490 p.S490S(1) ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TGGGGCAACTCGTGGTGGGTG 0.483 NA 7 59 0 0 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498885 31498885 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:31498885C>G uc002ecf.3 + 7 709 c.690C>G c.(688-690)TTC>TTG p.F230L SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 230 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 CGGGTCTCTTCGACAAATACC 0.652 NA 4 85 0 0 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601232 55601232 + Silent SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:55601232A>G uc002eid.1 + 1 649 c.564A>G c.(562-564)CAA>CAG p.Q188Q LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron NM_032330 NP_115706 Q96L46 CPNS2_HUMAN calpain small subunit 2 188 EF-hand 3. cytoplasm|plasma membrane calcium ion binding 0 TAAATGAACAACTTTACCAAA 0.483 NA 47 88 0 0 0 0 ATMIN 23300 broad.mit.edu 37 16 81077197 81077197 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:81077197G>C uc002ffz.1 + 4 1112 c.1094G>C c.(1093-1095)AGC>ACC p.S365T ATMIN_uc002fga.2_Missense_Mutation_p.S207T|ATMIN_uc010vnn.1_Missense_Mutation_p.S136T|ATMIN_uc002fgb.1_Missense_Mutation_p.S207T NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 365 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding 0 CTTAAGGAGAGCCTACCTCTT 0.458 NA 9 52 0 0 0 0 FANCA 2175 broad.mit.edu 37 16 89849296 89849296 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:89849296C>T uc002fou.1 - 17 1639 c.1597G>A c.(1597-1599)GAT>AAT p.D533N FANCA_uc010vpn.1_Missense_Mutation_p.D533N NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 533 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GATGACAAATCCTCGTAGAGT 0.488 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 7 40 0 0 0 0 ACADVL 37 broad.mit.edu 37 17 7127131 7127131 + Splice_Site SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:7127131G>A uc002gev.2 + 13 1421 c.1270_splice c.e13-1 p.E424_splice ACADVL_uc010vtp.1_Splice_Site_p.E434_splice|ACADVL_uc002gew.2_Splice_Site_p.E402_splice|ACADVL_uc002gex.2_Splice_Site_p.E348_splice|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank NM_000018 NP_000009 P49748 ACADV_HUMAN acyl-Coenzyme A dehydrogenase, very long chain energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity ovary(3) 3 TTTGTCCCTAGGAGGCAGCCT 0.557 NA 24 48 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 43 0 0 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701980 8701980 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:8701980G>A uc002glp.1 - 1 607 c.459C>T c.(457-459)TTC>TTT p.F153F NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 153 integral to membrane central_nervous_system(1) 1 GTGGGTTTCTGAAGCCAGGCA 0.582 NA 11 93 0 0 0 0 FAM18B 51030 broad.mit.edu 37 17 18694255 18694255 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:18694255A>G uc002gum.2 + 3 167 c.142A>G c.(142-144)ATC>GTC p.I48V FAM18B_uc002gun.2_5'UTR NM_016078 NP_057162 Q9NYZ1 F18B1_HUMAN hypothetical protein LOC51030 48 Helical; (Potential). I -> T (in Ref. 4; BAF83502). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967) AGTCAGTGCAATCATCGTCTA 0.393 NA 110 136 0 0 0 0 MYO18A 399687 broad.mit.edu 37 17 27442707 27442707 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:27442707C>T uc002hdt.1 - 12 2360 c.2202G>A c.(2200-2202)GAG>GAA p.E734E MYO18A_uc010wbc.1_Silent_p.E276E|MYO18A_uc002hds.2_Silent_p.E276E|MYO18A_uc010csa.1_Silent_p.E734E|MYO18A_uc002hdu.1_Silent_p.E734E|MYO18A_uc010wbd.1_Silent_p.E403E NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 734 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGCCACTCTCCTCGGGGCCCT 0.642 NA 7 6 0 0 0 0 WNK4 65266 broad.mit.edu 37 17 40947834 40947834 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:40947834G>C uc002ibj.2 + 16 3235 c.3214G>C c.(3214-3216)GAG>CAG p.E1072Q WNK4_uc010wgx.1_Missense_Mutation_p.E736Q|CCDC56_uc010wgz.1_Missense_Mutation_p.Q142E NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1072 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGCTCTGGCTGAGAGCGACCG 0.607 NA 3 40 0 0 0 0 IMP5 162540 broad.mit.edu 37 17 43923106 43923106 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:43923106C>T uc010wka.1 + 1 834 c.834C>T c.(832-834)GTC>GTT p.V278V LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 278 Helical; (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) ACCACTTTGTCTATGTCACCA 0.592 NA 6 136 0 0 0 0 XYLT2 64132 broad.mit.edu 37 17 48432263 48432263 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:48432263G>C uc002iqo.2 + 4 962 c.853G>C c.(853-855)GAT>CAT p.D285H XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 285 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) CCAGGGCTATGATAACGTGCG 0.642 NA 7 86 0 0 0 0 COLEC12 81035 broad.mit.edu 37 18 480723 480723 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr18:480723G>A uc002kkm.2 - 2 257 c.42C>T c.(40-42)TTC>TTT p.F14F NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 14 Cytoplasmic (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCTTGTAACCGAAGGATTGCA 0.552 NA 12 49 0 0 0 0 DSG2 1829 broad.mit.edu 37 18 29104495 29104495 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr18:29104495C>T uc002kwu.3 + 7 963 c.775C>T c.(775-777)CAG>TAG p.Q259* NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 259 Extracellular (Potential).|Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGCTCAAGTTCAGATTCGTAT 0.343 NA 5 35 0 0 0 0 CDH20 28316 broad.mit.edu 37 18 59221721 59221721 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr18:59221721C>T uc010dps.1 + 11 2211 c.2199C>T c.(2197-2199)GCC>GCT p.A733A CDH20_uc002lif.2_Silent_p.A727A NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 733 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TCTACGAGGCCGACATGGACC 0.642 NA 3 33 0 0 0 0 MAP2K2 5605 broad.mit.edu 37 19 4101137 4101137 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:4101137C>G uc002lzk.2 - 6 839 c.585G>C c.(583-585)GTG>GTC p.V195V MAP2K2_uc002lzj.2_Silent_p.V5V NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 195 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGGGCTTCACATCTGGAG 0.662 NA Cardiofaciocutaneous_syndrome 6 13 0 0 0 0 TMEM146 257062 broad.mit.edu 37 19 5754220 5754220 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:5754220G>A uc002mda.2 + 13 1303 c.1242G>A c.(1240-1242)TCG>TCA p.S414S TMEM146_uc010duj.1_Silent_p.S72S NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 414 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGACTGCTTCGTTGATACCCC 0.453 NA 41 88 0 0 0 0 ACER1 125981 broad.mit.edu 37 19 6309843 6309843 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:6309843G>A uc002mel.2 - 4 431 c.353C>T c.(352-354)TCC>TTC p.S118F NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 118 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ceramidase activity 0 GATGAACTGGGACCTGGGGAG 0.617 NA 6 32 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8618294 8618294 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:8618294C>G uc002mkg.2 - 5 468 c.354G>C c.(352-354)GTG>GTC p.V118V MYO1F_uc002mkh.2_Silent_p.V118V|MYO1F_uc010xkf.1_Silent_p.V118V NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 118 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 ATTTGGCTGCCACTGTCTTCC 0.512 NA 6 87 0 0 0 0 ZNF266 10781 broad.mit.edu 37 19 9528555 9528555 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:9528555A>T uc002mll.2 - 2 330 c.64T>A c.(64-66)TCT>ACT p.S22T ZNF266_uc002mlm.2_Missense_Mutation_p.S22T|ZNF266_uc002mln.2_Missense_Mutation_p.S22T|ZNF266_uc002mlo.2_Missense_Mutation_p.S22T|ZNF266_uc010dwp.2_Missense_Mutation_p.S22T|ZNF266_uc010dwq.2_Missense_Mutation_p.S22T NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 22 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCCAGCCAAGAGATCAGACTG 0.438 NA 61 111 0 0 0 0 HOOK2 29911 broad.mit.edu 37 19 12878702 12878702 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:12878702G>A uc002muy.2 - 13 1402 c.1231C>T c.(1231-1233)CGG>TGG p.R411W HOOK2_uc010xmq.1_5'Flank|HOOK2_uc002muz.2_Missense_Mutation_p.R411W NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 411 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 AAGGAGTCCCGCTCCGCCAAC 0.677 NA 21 22 0 0 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728925 15728925 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:15728925G>C uc002nbi.2 + 3 377 c.313G>C c.(313-315)GAC>CAC p.D105H CYP4F8_uc010xoi.1_Missense_Mutation_p.D105H|CYP4F8_uc010xoj.1_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 105 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 GTGCCACCCTGACATCGTCCG 0.577 NA 17 98 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40368715 40368715 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:40368715G>A uc002omp.3 - 28 12641 c.12633C>T c.(12631-12633)GGC>GGT p.G4211G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4211 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGCACACTGCGCCATGATAGC 0.597 NA 31 348 0 0 0 0 TSKS 60385 broad.mit.edu 37 19 50266447 50266447 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:50266447C>T uc002ppm.2 - 1 69 c.58G>A c.(58-60)GAC>AAC p.D20N NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 20 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTGGGGGTGTCCCCGGCCTCA 0.657 NA 16 74 0 0 0 0 RDH13 112724 broad.mit.edu 37 19 55559839 55559839 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:55559839G>C uc002qio.3 - 5 701 c.516C>G c.(514-516)CTC>CTG p.L172L RDH13_uc002qip.2_Silent_p.L101L|RDH13_uc010esr.1_RNA NM_001145971 NP_001139443 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 isoform 1 172 binding|oxidoreductase activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) CCAGGGACGAGAGGTTGATGA 0.512 NA 5 67 0 0 0 0 ZNF211 10520 broad.mit.edu 37 19 58152803 58152803 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:58152803G>A uc002qpq.2 + 3 1129 c.949G>A c.(949-951)GAA>AAA p.E317K ZNF211_uc010yhb.1_Missense_Mutation_p.E321K|ZNF211_uc002qpp.2_Missense_Mutation_p.E330K|ZNF211_uc002qpr.2_Missense_Mutation_p.E381K|ZNF211_uc002qps.2_Missense_Mutation_p.E382K|ZNF211_uc002qpt.2_Missense_Mutation_p.E329K|ZNF211_uc010yhc.1_Missense_Mutation_p.E329K|ZNF211_uc010yhd.1_Missense_Mutation_p.E256K|ZNF211_uc010yhe.1_Missense_Mutation_p.E308K NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 317 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCGTGCCCTGAATGTGGGAA 0.408 NA 18 79 0 0 0 0 ZNF274 10782 broad.mit.edu 37 19 58697098 58697098 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:58697098A>T uc002qrq.1 + 3 512 c.53A>T c.(52-54)GAT>GTT p.D18V ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.D18V|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 18 KRAB 1. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ACCTTTGAAGATGTAACACTG 0.517 NA 42 65 0 0 0 0 KCNS3 3790 broad.mit.edu 37 2 18113159 18113159 + Missense_Mutation SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:18113159T>G uc002rcv.2 + 3 1335 c.884T>G c.(883-885)ATG>AGG p.M295R KCNS3_uc002rcw.2_Missense_Mutation_p.M295R NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 295 Helical; Name=Segment S4; (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTACGGCTTATGAGGATTTTC 0.498 NA 30 61 0 0 0 0 STRN 6801 broad.mit.edu 37 2 37126701 37126701 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:37126701C>T uc002rpn.2 - 6 769 c.760G>A c.(760-762)GAT>AAT p.D254N STRN_uc010ezx.2_Missense_Mutation_p.D254N NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 254 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) TCTCTTCCATCAACATCATCA 0.338 NA 4 47 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44079964 44079964 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:44079964C>T uc002rtq.2 + 6 1011 c.921C>T c.(919-921)ATC>ATT p.I307I ABCG8_uc010yoa.1_Silent_p.I307I NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 307 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCACAGCCATCGGCTACCCCT 0.592 NA 11 92 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44102445 44102445 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:44102445C>T uc002rtq.2 + 11 1739 c.1649C>T c.(1648-1650)GCG>GTG p.A550V ABCG8_uc010yoa.1_Missense_Mutation_p.A549V NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 550 Helical; Name=4; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGCCGCCGCGGCCCTGCTC 0.617 NA 18 49 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61431396 61431396 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:61431396T>C uc002sbe.2 - 74 9401 c.9379A>G c.(9379-9381)AGT>GGT p.S3127G USP34_uc002sbd.2_Intron NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3127 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CATACCTTACTGGTTTCCACC 0.428 NA 44 72 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530075 80530075 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:80530075G>T uc002sok.1 - 2 1140 c.870C>A c.(868-870)AAC>AAA p.N290K CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 290 LRR 9.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AGGTGAGGCGGTTGGAGTCCA 0.602 NA HNSCC(69;0.2) 13 32 1.57e-10 1.71e-10 1 0 SLC5A7 60482 broad.mit.edu 37 2 108604753 108604753 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:108604753G>A uc002tdv.2 + 2 418 c.142G>A c.(142-144)GAT>AAT p.D48N SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.D48N|SLC5A7_uc010ywn.1_Intron NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 48 Extracellular (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TGGTGGCCGAGATATTGGTTT 0.527 NA 4 66 0 0 0 0 TTL 150465 broad.mit.edu 37 2 113251798 113251798 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:113251798C>G uc002thu.2 + 3 494 c.315C>G c.(313-315)CTC>CTG p.L105L NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 105 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) CAACCAATCTCAAGACTCCAG 0.443 NA T ETV6 ALL 10 52 0 0 0 0 UBXN4 23190 broad.mit.edu 37 2 136528186 136528186 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:136528186A>G uc002tur.2 + 8 1014 c.703A>G c.(703-705)ATG>GTG p.M235V UBXN4_uc002tus.2_Missense_Mutation_p.M1V NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 235 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 TGGAAAAGAAATGTTGGATTA 0.328 NA 8 13 0 0 0 0 FAP 2191 broad.mit.edu 37 2 163055300 163055300 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:163055300C>T uc002ucd.2 - 16 1577 c.1369G>A c.(1369-1371)GAC>AAC p.D457N FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.D432N|FAP_uc010fpd.2_5'UTR NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 457 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TTGGCGTAGTCGCTGAAACTT 0.468 NA 20 41 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168103755 168103755 + Silent SNP T T G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:168103755T>G uc002udx.2 + 8 5871 c.5853T>G c.(5851-5853)GCT>GCG p.A1951A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.A1776A|XIRP2_uc010fpq.2_Silent_p.A1729A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1776 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATGCTAAAGCTGTGATGGCAG 0.403 NA 8 43 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179635006 179635006 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:179635006C>G uc010zfg.1 - 36 8646 c.8422G>C c.(8422-8424)GAA>CAA p.E2808Q TTN_uc010zfh.1_Missense_Mutation_p.E2762Q|TTN_uc010zfi.1_Missense_Mutation_p.E2762Q|TTN_uc010zfj.1_Missense_Mutation_p.E2762Q|TTN_uc002unb.2_Missense_Mutation_p.E2808Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2808 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) GTGGCATTTTCCAAGGCTGTC 0.408 NA 16 88 0 0 0 0 COL3A1 1281 broad.mit.edu 37 2 189873853 189873853 + Silent SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:189873853A>G uc002uqj.1 + 48 3846 c.3729A>G c.(3727-3729)GGA>GGG p.G1243G NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1243 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGTTAATGGACAAATAGAAA 0.423 NA 5 106 0 0 0 0 ANKAR 150709 broad.mit.edu 37 2 190559831 190559831 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:190559831C>G uc002uqw.1 + 5 1219 c.1219C>G c.(1219-1221)CAA>GAA p.Q407E ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 478 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GACAGATGCTCAATTACATGA 0.338 NA 4 47 0 0 0 0 PLCL1 5334 broad.mit.edu 37 2 198949886 198949886 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:198949886G>C uc010fsp.2 + 2 1936 c.1645G>C c.(1645-1647)GAT>CAT p.D549H PLCL1_uc002uuv.3_Missense_Mutation_p.D470H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 549 Interaction with GABA A beta subunit (By similarity). intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TTCTGATCCAGATGTGTTAGA 0.413 NA 20 41 0 0 0 0 NOP58 51602 broad.mit.edu 37 2 203157551 203157551 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:203157551C>T uc002uzb.2 + 9 982 c.832C>T c.(832-834)CGA>TGA p.R278* SNORD11_uc002uzd.1_5'Flank NM_015934 NP_057018 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein homolog 278 Nop. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding 0 TCTACAAAATCGAATGATGGC 0.358 NA 7 106 0 0 0 0 SPEG 10290 broad.mit.edu 37 2 220354138 220354138 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:220354138C>T uc010fwg.2 + 36 8398 c.8398C>T c.(8398-8400)CCT>TCT p.P2800S NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2800 Pro-rich. 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) TCCTGACTCTCCTACCTCACT 0.627 NA 4 15 0 0 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545520 234545520 + Missense_Mutation SNP G G C rs45458396 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:234545520G>C uc002vur.2 + 1 398 c.352G>C c.(352-354)GAC>CAC p.D118H UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.D118H NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 118 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGTTTTCTTGACTTATTTTT 0.368 NA 13 106 0 0 0 0 SNX5 27131 broad.mit.edu 37 20 17937598 17937598 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:17937598G>C uc002wqc.2 - 2 221 c.135C>G c.(133-135)GTC>GTG p.V45V SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.V45V|SNX5_uc002wqe.2_5'UTR|SNX5_uc010zrt.1_Silent_p.V45V NM_014426 NP_055241 Q9Y5X3 SNX5_HUMAN sorting nexin 5 45 Phosphatidylinositol bisphosphate binding (By similarity).|PX. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding large_intestine(1) 1 CTGTAAATTTGACTTTGTCTC 0.423 NA 16 57 0 0 0 0 ACSS1 84532 broad.mit.edu 37 20 25038407 25038407 + Missense_Mutation SNP G G A rs141662914 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:25038407G>A uc002wub.2 - 1 1210 c.332C>T c.(331-333)TCT>TTT p.S111F ACSS1_uc002wuc.2_Missense_Mutation_p.S111F|ACSS1_uc010gdc.2_Missense_Mutation_p.S111F NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 111 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCACTCACCAGAGACATTTAA 0.667 NA 7 47 0 0 0 0 NANP 140838 broad.mit.edu 37 20 25604531 25604531 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:25604531G>A uc002wuy.2 - 1 118 c.54C>T c.(52-54)ATC>ATT p.I18I uc002wuz.2_5'Flank NM_152667 NP_689880 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 18 N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity 0 CGGCCGTGTCGATGAGAGTGT 0.701 NA 4 26 0 0 0 0 ITCH 83737 broad.mit.edu 37 20 33045206 33045206 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:33045206G>A uc010geu.1 + 14 1537 c.1345G>A c.(1345-1347)GAC>AAC p.D449N ITCH_uc002xak.2_Missense_Mutation_p.D408N|ITCH_uc010zuj.1_Missense_Mutation_p.D298N NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 449 WW 3.|Required for interaction with FYN. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 GAAGAGAACAGACAGCAATGG 0.403 NA 4 20 0 0 0 0 ADIG 149685 broad.mit.edu 37 20 37209995 37209995 + Nonsense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:37209995G>A uc002xjb.1 + 1 158 c.102G>A c.(100-102)TGG>TGA p.W34* NM_001018082 NP_001018092 Q0VDE8 ADIG_HUMAN small adipocyte factor 1 34 Helical; (Potential). brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation cytoplasm|integral to membrane|nucleus 0 Myeloproliferative disorder(115;0.00878) TGATCATCTGGCTACGCTTCT 0.517 NA 40 49 0 0 0 0 MAFB 9935 broad.mit.edu 37 20 39316788 39316788 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:39316788C>T uc002xji.2 - 1 1089 c.703G>A c.(703-705)GAG>AAG p.E235K NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 235 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) CGGATCACCTCGTCCTTGGTG 0.612 NA T IGH@ MM 5 12 0 0 0 0 ZNFX1 57169 broad.mit.edu 37 20 47863847 47863847 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:47863847G>A uc002xui.2 - 14 5961 c.5714C>T c.(5713-5715)GCC>GTC p.A1905V NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1905 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAGGTTGTTGGCCGTGTCAGA 0.522 NA 30 64 0 0 0 0 MYT1 4661 broad.mit.edu 37 20 62871203 62871203 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:62871203G>T uc002yii.2 + 22 3548 c.3184G>T c.(3184-3186)GGC>TGC p.G1062C MYT1_uc002yij.2_Missense_Mutation_p.G721C|MYT1_uc002yik.2_Missense_Mutation_p.G28C NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 1062 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAGCTGTCCGGCCTGAGCCA 0.592 NA 19 119 7.42e-09 8e-09 1 0 GABPA 2551 broad.mit.edu 37 21 27136626 27136626 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr21:27136626C>T uc002ylx.3 + 8 1435 c.908C>T c.(907-909)TCA>TTA p.S303L GABPA_uc002yly.3_Missense_Mutation_p.S303L NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 303 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 CCGAGGATTTCAGGAGAAGAT 0.338 NA 16 24 0 0 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744345 31744345 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr21:31744345G>A uc002ynz.3 - 1 213 c.187C>T c.(187-189)CCC>TCC p.P63S NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 63 5 X 10 AA approximate repeats.|2. intermediate filament 0 CAGCTGGTGGGCTCCCAGCAG 0.602 NA 23 43 0 0 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869589 22869589 + Silent SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:22869589T>C uc002zwe.2 - 2 619 c.366A>G c.(364-366)GAA>GAG p.E122E LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TATAACCAGGTTCAGATGAAG 0.483 NA 35 51 0 0 0 0 TST 7263 broad.mit.edu 37 22 37407100 37407100 + Missense_Mutation SNP G G A rs148918180 by1000genomes TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:37407100G>A uc003aqg.2 - 2 1562 c.862C>T c.(862-864)CGT>TGT p.R288C TST_uc003aqh.2_Missense_Mutation_p.R288C NM_003312 NP_003303 Q16762 THTR_HUMAN thiosulfate sulfurtransferase 288 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity 0 TGGGACACACGGCTCTCTGGG 0.617 NA 5 103 0 0 0 0 MICALL1 85377 broad.mit.edu 37 22 38323542 38323542 + Silent SNP G G A rs138192828 TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:38323542G>A uc003aui.2 + 9 1674 c.1590G>A c.(1588-1590)CCG>CCA p.P530P NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 530 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) TTCTGGAGCCGCCAGCTGTGC 0.657 NA 33 53 0 0 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497505 39497505 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr22:39497505C>T uc011aoh.1 + 3 480 c.414C>T c.(412-414)TTC>TTT p.F138F APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank NM_181773 NP_861438 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 138 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Melanoma(58;0.04) TCATGGGCTTCCCAAGTAGGA 0.493 NA 13 47 0 0 0 0 CNTN6 27255 broad.mit.edu 37 3 1363508 1363508 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:1363508C>G uc003boz.2 + 8 1203 c.936C>G c.(934-936)CTC>CTG p.L312L CNTN6_uc011asj.1_Silent_p.L240L|CNTN6_uc003bpa.2_Silent_p.L312L NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 312 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGGGTCAACTCATTTTTTATG 0.348 NA 21 25 0 0 0 0 CAPN7 23473 broad.mit.edu 37 3 15276644 15276644 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:15276644G>C uc003bzn.2 + 12 1669 c.1399G>C c.(1399-1401)GAG>CAG p.E467Q NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN calpain 7 467 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 GGATATTAGAGAGTTCAAGGT 0.393 NA 5 22 0 0 0 0 SATB1 6304 broad.mit.edu 37 3 18390856 18390856 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:18390856G>C uc003cbh.2 - 11 3833 c.2098C>G c.(2098-2100)CTC>GTC p.L700V SATB1_uc003cbi.2_Missense_Mutation_p.L732V|SATB1_uc003cbj.2_Missense_Mutation_p.L700V NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 700 Homeobox. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 TGGTGCTTGAGATAGTACCGC 0.507 NA 7 134 0 0 0 0 SNRK 54861 broad.mit.edu 37 3 43344765 43344765 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:43344765C>T uc003cms.3 + 3 402 c.70C>T c.(70-72)CGA>TGA p.R24* SNRK_uc003cmt.3_Nonsense_Mutation_p.R24*|SNRK_uc010hik.2_Nonsense_Mutation_p.R24*|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Nonsense_Mutation_p.R24* NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN SNF related kinase 24 ATP (By similarity).|Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) AACCTTGGGTCGAGGCCATTT 0.423 NA 22 27 0 0 0 0 MAP4 4134 broad.mit.edu 37 3 47957727 47957727 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:47957727G>A uc003csb.2 - 7 2116 c.1590C>T c.(1588-1590)CTC>CTT p.L530L MAP4_uc003csc.3_Silent_p.L530L|MAP4_uc011bbf.1_Silent_p.L507L|MAP4_uc003csf.3_Silent_p.L547L NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 530 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CGTTCTTGATGAGAACTACTT 0.502 NA 36 33 0 0 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085380 64085380 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:64085380T>A uc003dmf.2 - 8 2468 c.1882A>T c.(1882-1884)ATT>TTT p.I628F NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 628 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTGTAGCCAATGGGGTTGCTG 0.602 NA 35 34 0 0 0 0 CD80 941 broad.mit.edu 37 3 119246643 119246643 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:119246643C>T uc003ecq.2 - 6 1237 c.842G>A c.(841-843)AGA>AAA p.R281K CD80_uc010hqt.1_Missense_Mutation_p.R249K|CD80_uc010hqu.1_Missense_Mutation_p.R155K NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 281 Cytoplasmic (Potential). interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) ACTTTCCCTTCTCAATCTCTC 0.453 NA 11 95 0 0 0 0 PODXL2 50512 broad.mit.edu 37 3 127379318 127379318 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:127379318G>A uc003ejq.2 + 3 471 c.447G>A c.(445-447)ATG>ATA p.M149I NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 149 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 TGCCCAAGATGAATCTGGTTG 0.348 NA 17 68 0 0 0 0 ATP2C1 27032 broad.mit.edu 37 3 130714944 130714944 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:130714944C>T uc003enl.2 + 23 2337 c.2115C>T c.(2113-2115)TTC>TTT p.F705F ATP2C1_uc011blg.1_Silent_p.F739F|ATP2C1_uc011blh.1_Silent_p.F700F|ATP2C1_uc011bli.1_Silent_p.F739F|ATP2C1_uc003enk.2_Silent_p.F689F|ATP2C1_uc003enm.2_Silent_p.F705F|ATP2C1_uc003enn.2_Silent_p.F689F|ATP2C1_uc003eno.2_Silent_p.F705F|ATP2C1_uc003enp.2_Silent_p.F705F|ATP2C1_uc003enq.2_Silent_p.F705F|ATP2C1_uc003enr.2_Silent_p.F705F|ATP2C1_uc003ens.2_Silent_p.F705F|ATP2C1_uc003ent.2_Silent_p.F705F|ATP2C1_uc003enu.2_Silent_p.F383F NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 705 Helical; Name=5; (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TCGTTAGATTCCAGCTGAGCA 0.318 NA Hailey-Hailey_disease 9 162 0 0 0 0 DNAJC13 23317 broad.mit.edu 37 3 132196904 132196904 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:132196904C>T uc003eor.2 + 24 2694 c.2629C>T c.(2629-2631)CTT>TTT p.L877F NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 877 heat shock protein binding ovary(1)|breast(1) 2 TTTACAAGCCCTTGCTATTGT 0.333 NA 22 92 0 0 0 0 RFC4 5984 broad.mit.edu 37 3 186507820 186507820 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:186507820C>G uc003fqz.2 - 11 1253 c.1030G>C c.(1030-1032)GAA>CAA p.E344Q RFC4_uc011bsc.1_Missense_Mutation_p.E344Q NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 344 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TGCAAATGTTCATCAGCACCA 0.378 NA 9 79 0 0 0 0 RFC4 5984 broad.mit.edu 37 3 186507847 186507847 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr3:186507847C>T uc003fqz.2 - 11 1226 c.1003G>A c.(1003-1005)GAC>AAC p.D335N RFC4_uc011bsc.1_Missense_Mutation_p.D335N NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 335 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) AGGCATTTGTCAACTTCCTAC 0.378 NA 9 71 0 0 0 0 EVC 2121 broad.mit.edu 37 4 5811288 5811288 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:5811288G>A uc003gil.1 + 19 2916 c.2732G>A c.(2731-2733)CGA>CAA p.R911Q EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 911 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) GCCTTGGCCCGAGTGCCCCTT 0.433 NA 6 49 0 0 0 0 BOD1L 259282 broad.mit.edu 37 4 13606027 13606027 + Missense_Mutation SNP C C T rs79874260 by1000genomes TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:13606027C>T uc003gmz.1 - 10 2614 c.2497G>A c.(2497-2499)GCT>ACT p.A833T BOD1L_uc010idr.1_Missense_Mutation_p.A170T NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 833 Lys-rich. DNA binding ovary(5)|breast(1) 6 GTTTTTTCAGCTGACAAGCGT 0.353 NA 6 17 0 0 0 0 UBA6 55236 broad.mit.edu 37 4 68543386 68543386 + Silent SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:68543386T>A uc003hdg.3 - 6 460 c.408A>T c.(406-408)ACA>ACT p.T136T UBA6_uc003hdi.2_Silent_p.T136T|UBA6_uc003hdj.2_Silent_p.T136T NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 136 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 CAGAAGATGATGTGACATGAA 0.308 NA 28 38 0 0 0 0 C4orf7 260436 broad.mit.edu 37 4 71099858 71099858 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:71099858C>T uc003hfd.2 + 4 297 c.212C>T c.(211-213)CCA>CTA p.P71L NM_152997 NP_694542 Q8NFU4 FDSCP_HUMAN chromosome 4 open reading frame 7 precursor 71 Pro-rich. extracellular region central_nervous_system(1) 1 TTTCCTATTCCAATACCTGAA 0.408 NA 42 85 0 0 0 0 G3BP2 9908 broad.mit.edu 37 4 76572243 76572243 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:76572243C>G uc003hir.2 - 10 1192 c.1027G>C c.(1027-1029)GAT>CAT p.D343H G3BP2_uc003his.2_Missense_Mutation_p.D343H|G3BP2_uc003hit.2_Missense_Mutation_p.D310H NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 343 RRM. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCATTTTCATCAATATCATGT 0.338 NA 8 41 0 0 0 0 PTPN13 5783 broad.mit.edu 37 4 87671658 87671658 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:87671658G>A uc003hpz.2 + 18 3166 c.2686G>A c.(2686-2688)GAG>AAG p.E896K PTPN13_uc003hpy.2_Missense_Mutation_p.E896K|PTPN13_uc003hqa.2_Missense_Mutation_p.E896K|PTPN13_uc003hqb.2_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 896 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) TCTCCAAGCAGAGTCTGTTAG 0.438 NA 9 176 0 0 0 0 RG9MTD2 93587 broad.mit.edu 37 4 100474995 100474995 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:100474995C>T uc003huy.2 - 6 905 c.592G>A c.(592-594)GAT>AAT p.D198N RG9MTD2_uc003huz.3_Missense_Mutation_p.D198N|RG9MTD2_uc003hva.3_Missense_Mutation_p.D198N NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN RNA (guanine-9-) methyltransferase domain 198 methyltransferase activity ovary(2)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) TTTGATTCATCTAATTCCTTC 0.323 NA 6 45 0 0 0 0 MFSD8 256471 broad.mit.edu 37 4 128878725 128878725 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:128878725C>G uc003ifp.2 - 3 248 c.85G>C c.(85-87)GAA>CAA p.E29Q MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Missense_Mutation_p.E29Q|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 29 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 TAATGCTCTTCAGTCTCTAAA 0.299 NA 15 92 0 0 0 0 FHDC1 85462 broad.mit.edu 37 4 153897181 153897181 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:153897181G>A uc003inf.2 + 11 2813 c.2738G>A c.(2737-2739)AGA>AAA p.R913K NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 913 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) AAGTCCAGCAGAGGCGCCGGC 0.672 NA 5 30 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155157796 155157796 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr4:155157796A>T uc003inw.2 - 25 6643 c.6643T>A c.(6643-6645)TAT>AAT p.Y2215N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2215 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGGTGTGATAGCTCAGGCTG 0.488 NA 4 69 0 0 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867461 7867461 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:7867461C>T uc003jeb.2 - 2 873 c.736G>A c.(736-738)GAA>AAA p.E246K FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 246 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TCCAATTTTTCACCTTGAAGT 0.373 NA 9 119 0 0 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867642 7867642 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:7867642C>G uc003jeb.2 - 2 692 c.555G>C c.(553-555)CTG>CTC p.L185L FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 185 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 GCAACAGAATCAGAGCTTGCA 0.433 NA 10 127 0 0 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867698 7867698 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:7867698C>G uc003jeb.2 - 2 636 c.499G>C c.(499-501)GAA>CAA p.E167Q FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 167 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 GGCTCCTTTTCAAACTGAAAG 0.413 NA 8 108 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052056 9052056 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:9052056G>T uc003jek.2 - 20 3486 c.2774C>A c.(2773-2775)CCC>CAC p.P925H NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 925 Extracellular (Potential).|TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GCTGCCCATGGGGAACAGGAG 0.572 NA 10 32 0.000978159 0.00101951 1 0 RANBP3L 202151 broad.mit.edu 37 5 36251470 36251470 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:36251470G>A uc003jkh.2 - 13 1792 c.1299C>T c.(1297-1299)TGC>TGT p.C433C RANBP3L_uc011cow.1_Silent_p.C458C NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 433 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CACAGCTTTCGCAGTTCAATT 0.373 NA 19 37 0 0 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407099 38407099 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:38407099A>G uc003jlc.1 + 8 1322 c.998A>G c.(997-999)AAG>AGG p.K333R EGFLAM_uc003jlb.1_Missense_Mutation_p.K333R|EGFLAM_uc003jle.1_Missense_Mutation_p.K99R|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 333 cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) AGAAAGGGGAAGAATGGTGTG 0.532 NA 29 106 0 0 0 0 RICTOR 253260 broad.mit.edu 37 5 38944623 38944623 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:38944623C>T uc003jlp.2 - 36 4862 c.4838G>A c.(4837-4839)CGC>CAC p.R1613H RICTOR_uc003jlo.2_Missense_Mutation_p.R1637H|RICTOR_uc010ivf.2_Missense_Mutation_p.R1290H NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1613 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AACTTCTTTGCGAAGGAGTAT 0.333 NA 28 86 0 0 0 0 ITGA2 3673 broad.mit.edu 37 5 52371079 52371079 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:52371079A>T uc003joy.2 + 23 2913 c.2770A>T c.(2770-2772)AAT>TAT p.N924Y ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.N848Y|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 924 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CAAGGCTGATAATTTGGTCAA 0.368 NA 9 27 0 0 0 0 CCDC125 202243 broad.mit.edu 37 5 68616157 68616157 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:68616157C>G uc003jvv.1 - 1 254 c.211G>C c.(211-213)GAA>CAA p.E71Q CCDC125_uc003jvx.1_Missense_Mutation_p.E71Q|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.E71Q NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 71 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) AAACTCGCTTCATTTCTTTCT 0.388 NA 54 56 0 0 0 0 POLK 51426 broad.mit.edu 37 5 74879221 74879221 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:74879221C>G uc003kdw.2 + 8 1134 c.1038C>G c.(1036-1038)ATC>ATG p.I346M POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Missense_Mutation_p.I346M|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.I256M|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.I256M|POLK_uc003kee.2_Missense_Mutation_p.I346M|POLK_uc003kef.2_Missense_Mutation_p.I256M NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 346 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TGGACTTCATCAAGGATTTAC 0.323 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 17 37 0 0 0 0 SV2C 22987 broad.mit.edu 37 5 75490760 75490760 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:75490760C>T uc003kei.1 + 3 731 c.597C>T c.(595-597)CTC>CTT p.L199L NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 199 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TAGTGTACCTCGGGATGATGG 0.468 NA 13 125 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79030703 79030703 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:79030703A>G uc003kgc.2 + 2 6187 c.6115A>G c.(6115-6117)AAA>GAA p.K2039E NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2039 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TAGCCAGGAAAAAATTAAACT 0.428 NA 23 22 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175902 140175902 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:140175902C>T uc003lhd.2 + 1 1459 c.1353C>T c.(1351-1353)AAC>AAT p.N451N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N451N|PCDHA2_uc011czy.1_Silent_p.N451N NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCGCCGGCGT 0.647 NA 39 44 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529865 140529865 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:140529865G>C uc003lir.2 + 1 27 c.27G>C c.(25-27)AAG>AAC p.K9N PCDHB6_uc011dah.1_5'UTR NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 9 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACAGAACAAGAAAAGGCAAG 0.433 NA 15 57 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768638 140768638 + Nonsense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:140768638C>G uc003lkc.1 + 1 1187 c.1187C>G c.(1186-1188)TCA>TGA p.S396* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Nonsense_Mutation_p.S396* NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 396 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAACTTCTTCAAGAAACACG 0.418 NA 6 77 0 0 0 0 RNF14 9604 broad.mit.edu 37 5 141353158 141353158 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:141353158C>T uc003lly.2 + 2 44 c.5C>T c.(4-6)TCG>TTG p.S2L RNF14_uc003llz.2_Missense_Mutation_p.S2L|RNF14_uc003lma.2_Missense_Mutation_p.S2L|RNF14_uc003lmb.2_5'UTR|RNF14_uc003lmc.2_Missense_Mutation_p.S2L|RNF14_uc011dbg.1_Missense_Mutation_p.S2L|RNF14_uc011dbh.1_Missense_Mutation_p.S2L|RNF14_uc003lmd.2_Missense_Mutation_p.S2L NM_183399 NP_899646 Q9UBS8 RNF14_HUMAN ring finger protein 14 isoform 1 2 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding 0 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GTCCTTATGTCGTCAGAAGAT 0.328 NA 8 37 0 0 0 0 ABLIM3 22885 broad.mit.edu 37 5 148619423 148619423 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:148619423C>T uc003lpy.2 + 13 1427 c.1176C>T c.(1174-1176)TCC>TCT p.S392S ABLIM3_uc003lpz.1_Silent_p.S392S|ABLIM3_uc003lqa.1_Silent_p.S338S|ABLIM3_uc003lqb.2_Silent_p.S330S|ABLIM3_uc003lqc.1_Silent_p.S392S|ABLIM3_uc003lqd.1_Silent_p.S330S|ABLIM3_uc003lqf.2_Silent_p.S330S|ABLIM3_uc003lqe.1_Silent_p.S330S NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 392 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTTCTCCCGCTCACCTC 0.627 NA 35 35 0 0 0 0 PDGFRB 5159 broad.mit.edu 37 5 149516593 149516593 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:149516593C>T uc003lro.2 - 2 487 c.18G>A c.(16-18)GCG>GCA p.A6A PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.A6A NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 6 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GAGCTGGCATCGCACCCGGAA 0.647 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 3 21 0 0 0 0 GABRA1 2554 broad.mit.edu 37 5 161322867 161322867 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:161322867C>A uc010jiw.2 + 10 1520 c.1052C>A c.(1051-1053)CCA>CAA p.P351Q GABRA1_uc010jix.2_Missense_Mutation_p.P351Q|GABRA1_uc010jiy.2_Missense_Mutation_p.P351Q|GABRA1_uc003lyx.3_Missense_Mutation_p.P351Q|GABRA1_uc010jiz.2_Missense_Mutation_p.P351Q|GABRA1_uc010jja.2_Missense_Mutation_p.P351Q|GABRA1_uc010jjb.2_Missense_Mutation_p.P351Q NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 351 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|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 ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGTGTGGTTCCAGAAAAGGTA 0.398 NA 31 35 4.75e-14 5.2e-14 1 0 BTNL9 153579 broad.mit.edu 37 5 180472573 180472573 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr5:180472573C>T uc003mmt.2 + 2 315 c.84C>T c.(82-84)CTC>CTT p.L28L BTNL9_uc011dhi.1_Intron NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 28 integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTCCTCCTCCTTCAGCCTG 0.607 NA 5 39 0 0 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033738 26033738 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:26033738G>C uc003nft.1 - 1 59 c.59C>G c.(58-60)TCT>TGT p.S20C HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 20 nucleosome assembly nucleosome|nucleus DNA binding 0 ACCTGCACGAGAAGACCGAGT 0.572 NA 5 106 0 0 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28215883 28215883 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:28215883C>G uc003nks.1 - 3 860 c.616G>C c.(616-618)GAT>CAT p.D206H ZKSCAN4_uc011dlb.1_Missense_Mutation_p.D51H NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 206 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ACCATTGCATCTTCTCTGCAG 0.572 NA 9 18 0 0 0 0 CYP21A2 1589 broad.mit.edu 37 6 31975151 31975151 + Missense_Mutation SNP T T G rs115914286 by1000genomes TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:31975151T>G uc010jtp.2 + 8 962 c.844T>G c.(844-846)TTG>GTG p.L282V CYP21A2_uc011dpb.1_Missense_Mutation_p.L252V P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 281 V -> G (in AH3; salt wasting form). V->I: Normal KM but 50% reduced Vmax.|V->T: Normal KM but 10% reduced Vmax. glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 GGAAGGGCACTTGCACATGGC 0.607 NA 3 22 0 0 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169064 32169064 + Silent SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:32169064C>G uc003obb.2 - 22 4108 c.3969G>C c.(3967-3969)CTG>CTC p.L1323L NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1323 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GTCCTACCCTCAGAGTCAGGG 0.642 NA 7 67 0 0 0 0 SPDEF 25803 broad.mit.edu 37 6 34512160 34512160 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:34512160G>A uc003ojq.1 - 2 488 c.73C>T c.(73-75)CGG>TGG p.R25W SPDEF_uc011dsq.1_Missense_Mutation_p.R25W NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 25 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 AAGCCTGTCCGCGACACCGTG 0.716 NA 5 36 0 0 0 0 PRICKLE4 29964 broad.mit.edu 37 6 41753185 41753185 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:41753185G>C uc011duf.1 + 6 737 c.489G>C c.(487-489)CTG>CTC p.L163L PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank NM_013397 NP_037529 Q2TBC4 PRIC4_HUMAN over-expressed breast tumor protein 123 LIM zinc-binding 1. nucleus zinc ion binding 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCAGGCCCTGATAAACCTCA 0.617 NA 5 58 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51890330 51890330 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:51890330C>T uc003pah.1 - 32 4554 c.4278G>A c.(4276-4278)TCG>TCA p.S1426S PKHD1_uc003pai.2_Silent_p.S1426S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1426 IPT/TIG 9.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TAAAAGGACCCGAGAGGTCAA 0.537 NA 28 110 0 0 0 0 RAB23 51715 broad.mit.edu 37 6 57061369 57061369 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:57061369C>T uc003pds.2 - 4 483 c.277G>A c.(277-279)GAT>AAT p.D93N RAB23_uc003pdt.2_Missense_Mutation_p.D93N|RAB23_uc010kac.2_Missense_Mutation_p.D93N|RAB23_uc010kad.2_Intron NM_183227 NP_899050 Q9ULC3 RAB23_HUMAN Ras-related protein Rab-23 93 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding skin(1) 1 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GATTCCCTATCTGTGGTAGAG 0.353 NA 6 65 0 0 0 0 CD109 135228 broad.mit.edu 37 6 74516607 74516607 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:74516607C>G uc003php.2 + 25 3426 c.3001C>G c.(3001-3003)CCT>GCT p.P1001A CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.P1001A|CD109_uc010kba.2_Missense_Mutation_p.P924A NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1001 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TGAAGCCGATCCTTACATAGA 0.343 NA 4 30 0 0 0 0 ZNF292 23036 broad.mit.edu 37 6 87969609 87969609 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:87969609G>C uc003plm.3 + 8 6303 c.6262G>C c.(6262-6264)GAA>CAA p.E2088Q NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2088 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GCATAAAAAAGAAAAGGAGGA 0.388 NA 7 45 0 0 0 0 CNR1 1268 broad.mit.edu 37 6 88853849 88853849 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:88853849C>A uc011dzq.1 - 2 4708 c.1145G>T c.(1144-1146)TGC>TTC p.C382F CNR1_uc010kbz.2_Missense_Mutation_p.C382F|CNR1_uc011dzr.1_Missense_Mutation_p.C382F|CNR1_uc011dzs.1_Missense_Mutation_p.C382F|CNR1_uc003pmq.3_Missense_Mutation_p.C382F|CNR1_uc011dzt.1_Missense_Mutation_p.C382F|CNR1_uc010kca.2_Missense_Mutation_p.C349F NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 382 Helical; Name=7; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GAGCATACTGCAGAATGCAAA 0.507 NA 18 49 3.52e-12 3.83e-12 1 0 PREP 5550 broad.mit.edu 37 6 105824004 105824004 + Silent SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:105824004G>C uc003prc.2 - 4 584 c.381C>G c.(379-381)CTC>CTG p.L127L NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 127 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ACTTACCTCGGAGTGCCACTG 0.522 NA 17 38 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111697577 111697577 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:111697577C>T uc003puy.3 - 13 2304 c.1981G>A c.(1981-1983)GAT>AAT p.D661N REV3L_uc003pux.3_Missense_Mutation_p.D583N|REV3L_uc003puz.3_Missense_Mutation_p.D583N NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 661 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTTCATAATCAAAAATACTA 0.323 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 15 38 0 0 0 0 FYN 2534 broad.mit.edu 37 6 112035585 112035585 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:112035585A>T uc003pvj.2 - 4 649 c.309T>A c.(307-309)TTT>TTA p.F103L FYN_uc003pvi.2_Missense_Mutation_p.F103L|FYN_uc003pvk.2_Missense_Mutation_p.F103L|FYN_uc003pvh.2_Missense_Mutation_p.F103L NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 103 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CTCCTTTGTGAAAACTCAGGT 0.428 NA 5 58 0 0 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378934 114378934 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:114378934G>A uc003pwg.3 - 2 560 c.528C>T c.(526-528)ATC>ATT p.I176I uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.I176I NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 176 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TCAACAACTTGATGGATGAGT 0.403 NA 43 247 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152770688 152770688 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr6:152770688C>G uc010kiw.2 - 28 4086 c.3484G>C c.(3484-3486)GAG>CAG p.E1162Q SYNE1_uc003qot.3_Missense_Mutation_p.E1169Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1162Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1145Q|SYNE1_uc003qow.2_Missense_Mutation_p.E457Q|SYNE1_uc003qox.1_Missense_Mutation_p.E678Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1162 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGTTTAACCTCTCCGTGGTTG 0.403 NA HNSCC(10;0.0054) 25 46 0 0 0 0 DMTF1 9988 broad.mit.edu 37 7 86817567 86817567 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:86817567C>T uc003uih.2 + 13 1687 c.1361C>T c.(1360-1362)TCT>TTT p.S454F DMTF1_uc003uii.2_Missense_Mutation_p.S188F|DMTF1_uc003uij.2_Missense_Mutation_p.S188F|DMTF1_uc011khb.1_Missense_Mutation_p.S366F|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S454F|DMTF1_uc003uin.2_Missense_Mutation_p.S188F NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 454 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) ACAGCCATCTCTTCTAGCCCC 0.423 NA 56 114 0 0 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87339931 87339931 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:87339931G>C uc003ujb.2 + 5 880 c.469G>C c.(469-471)GAA>CAA p.E157Q ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.E140Q|RUNDC3B_uc011khe.1_Missense_Mutation_p.E140Q|RUNDC3B_uc003ujc.2_Missense_Mutation_p.E140Q|RUNDC3B_uc003ujd.2_Missense_Mutation_p.E62Q NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 157 RUN. skin(1) 1 Esophageal squamous(14;0.00164) ACATTTATCTGAATACATCTC 0.303 NA 14 29 0 0 0 0 MGC26647 219557 broad.mit.edu 37 7 88424117 88424117 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:88424117A>T uc003ujv.2 - 2 322 c.140T>A c.(139-141)CTT>CAT p.L47H ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 47 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) CATCCTATCAAGAAGGAATTT 0.388 NA 40 97 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94043559 94043559 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:94043559C>A uc003ung.1 + 29 2162 c.1691C>A c.(1690-1692)GCT>GAT p.A564D COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 564 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCAGGTCCCGCTGGTGAAGTT 0.433 NA HNSCC(75;0.22) 7 33 3.1e-07 3.32e-07 1 0 NPTX2 4885 broad.mit.edu 37 7 98256519 98256519 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:98256519C>T uc003upl.2 + 4 1108 c.931C>T c.(931-933)CAC>TAC p.H311Y NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 311 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CAAGTGGCACCACATCTGTGT 0.637 NA 19 30 0 0 0 0 SLC26A5 375611 broad.mit.edu 37 7 103017279 103017279 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:103017279A>G uc003vbz.2 - 19 2253 c.2017T>C c.(2017-2019)TAT>CAT p.Y673H SLC26A5_uc003vbt.1_Missense_Mutation_p.Y673H|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.Y641H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 673 Cytoplasmic (Potential).|STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 AAGTATACATATATACCGACG 0.313 NA 14 58 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431659 117431659 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:117431659T>A uc003vjf.2 - 4 1683 c.1591A>T c.(1591-1593)ACT>TCT p.T531S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 531 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACACCATGAGTCTTTAAACTG 0.547 NA 42 79 0 0 0 0 RBM28 55131 broad.mit.edu 37 7 127964661 127964661 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:127964661C>G uc003vmp.2 - 12 1405 c.1290G>C c.(1288-1290)AAG>AAC p.K430N RBM28_uc003vmo.2_Missense_Mutation_p.K47N|RBM28_uc011koj.1_Missense_Mutation_p.K289N|RBM28_uc011kok.1_Missense_Mutation_p.K377N NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 430 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 GCTTCTTCACCTTCGTCGTCT 0.557 NA 26 207 0 0 0 0 AHCYL2 23382 broad.mit.edu 37 7 129028933 129028933 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:129028933C>T uc011kov.1 + 3 566 c.512C>T c.(511-513)TCG>TTG p.S171L AHCYL2_uc003vot.2_Missense_Mutation_p.S170L|AHCYL2_uc003vov.2_Missense_Mutation_p.S68L|AHCYL2_uc011kow.1_Missense_Mutation_p.S69L|AHCYL2_uc011kox.1_Missense_Mutation_p.S68L NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 171 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GATGAGACATCGCCCAGGGAC 0.398 NA 19 49 0 0 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138774437 138774437 + Missense_Mutation SNP A A T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:138774437A>T uc003vun.2 - 2 765 c.377T>A c.(376-378)CTC>CAC p.L126H ZC3HAV1_uc003vup.2_Missense_Mutation_p.L126H NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 126 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 CAGTCCAGAGAGTTCGTGATT 0.408 NA 26 11 0 0 0 0 MTMR9 66036 broad.mit.edu 37 8 11172549 11172549 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:11172549C>T uc003wtm.2 + 7 1487 c.1089C>T c.(1087-1089)GCC>GCT p.A363A MTMR9_uc010lrx.2_Silent_p.A256A|MTMR9_uc011kxa.1_Silent_p.A278A NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 363 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) GTTTTGAGGCCCTGATTGAAA 0.483 NA 48 114 0 0 0 0 BIN3 55909 broad.mit.edu 37 8 22487967 22487967 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:22487967G>T uc003xcl.2 - 5 382 c.285C>A c.(283-285)TTC>TTA p.F95L BIN3_uc003xck.2_Missense_Mutation_p.F47L|BIN3_uc010ltw.2_Missense_Mutation_p.F41L NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN bridging integrator 3 95 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity 0 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TTTCCTGATTGAAGGCATCCA 0.592 NA 36 186 3.62e-18 3.98e-18 1 0 NEFM 4741 broad.mit.edu 37 8 24771655 24771655 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:24771655G>C uc003xed.3 + 1 382 c.349G>C c.(349-351)GAG>CAG p.E117Q NEFM_uc011lac.1_Missense_Mutation_p.E117Q|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 117 Rod.|Coil 1A. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGGCTACATAGAGAAGGTGCA 0.647 NA 3 13 0 0 0 0 DCTN6 10671 broad.mit.edu 37 8 30038087 30038087 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:30038087G>C uc003xhy.2 + 6 502 c.415G>C c.(415-417)GAG>CAG p.E139Q NM_006571 NP_006562 O00399 DCTN6_HUMAN dynactin 6 139 centrosome transferase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) AGTCATCCCTGAGAATACGGT 0.438 NA 10 43 0 0 0 0 RBPMS 11030 broad.mit.edu 37 8 30402106 30402106 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:30402106C>G uc003xic.1 + 6 1158 c.493C>G c.(493-495)CCT>GCT p.P165A RBPMS_uc003xid.1_Missense_Mutation_p.P165A|RBPMS_uc003xie.1_Missense_Mutation_p.P165A|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Missense_Mutation_p.P165A|RBPMS_uc003xib.2_Missense_Mutation_p.P165A|RBPMS_uc010lvh.1_Missense_Mutation_p.P61A NM_006867 NP_006858 Q93062 RBPMS_HUMAN RNA-binding protein with multiple splicing 165 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TCTACCTCCTCCTGCTTTCAC 0.562 NA 8 159 0 0 0 0 PURG 29942 broad.mit.edu 37 8 30889927 30889927 + Silent SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:30889927C>T uc003xin.2 - 1 391 c.372G>A c.(370-372)GAG>GAA p.E124E WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.E124E NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 124 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GGGCATAGTGCTCGATGAAGT 0.597 NA 15 92 0 0 0 0 RB1CC1 9821 broad.mit.edu 37 8 53569790 53569790 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:53569790G>C uc003xre.3 - 15 3157 c.2599C>G c.(2599-2601)CTA>GTA p.L867V RB1CC1_uc003xrf.3_Missense_Mutation_p.L867V NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 867 Potential. autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AAAGACAGTAGTTCTTTTTGA 0.264 NA 7 33 0 0 0 0 MOS 4342 broad.mit.edu 37 8 57025630 57025630 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:57025630G>A uc011leb.1 - 1 912 c.912C>T c.(910-912)TTC>TTT p.F304F NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 304 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) GCGAGTCCTCGAAGACGGCAG 0.682 NA 6 29 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68028195 68028195 + Missense_Mutation SNP A A G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:68028195A>G uc003xxi.2 + 13 1455 c.1424A>G c.(1423-1425)GAG>GGG p.E475G CSPP1_uc003xxg.1_Missense_Mutation_p.E467G|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E440G|CSPP1_uc003xxk.2_Missense_Mutation_p.E146G NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 475 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CACTTTGAAGAGATGATACCA 0.408 NA 37 81 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95504890 95504890 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr8:95504890T>C uc003ygo.1 - 21 4811 c.4798A>G c.(4798-4800)ATA>GTA p.I1600V KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1600 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTTGACGTTATAAAGGTCTCA 0.338 NA 10 74 0 0 0 0 IFNA8 3445 broad.mit.edu 37 9 21409512 21409512 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:21409512G>C uc003zpc.1 + 1 367 c.337G>C c.(337-339)GAC>CAC p.D113H NM_002170 NP_002161 P32881 IFNA8_HUMAN interferon, alpha 8 precursor 113 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) CATCGAACTTGACCAGCAGCT 0.502 NA 26 45 0 0 0 0 RGP1 9827 broad.mit.edu 37 9 35751957 35751957 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:35751957C>T uc011lpf.1 + 8 908 c.767C>T c.(766-768)TCA>TTA p.S256L GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.S296L NM_001080496 NP_001073965 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog 256 ovary(1) 1 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCCAGTTTTCAGTCAGCTTA 0.577 NA 5 24 0 0 0 0 CBWD6 644019 broad.mit.edu 37 9 69238279 69238279 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:69238279T>C uc004afj.3 - 8 719 c.613A>G c.(613-615)ACA>GCA p.T205A CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN COBW domain containing 6 205 ATP (Potential). ATP binding 0 ACCAAGTCTGTTTTATTAATG 0.313 NA 35 110 0 0 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71606110 71606110 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:71606110G>A uc004agu.2 + 15 1862 c.1557G>A c.(1555-1557)TTG>TTA p.L519L PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 519 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) CCATCTACTTGACCGCTGAGC 0.448 NA 9 95 0 0 0 0 FAM120A 23196 broad.mit.edu 37 9 96291798 96291798 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:96291798G>C uc004atw.2 + 9 1695 c.1670G>C c.(1669-1671)AGA>ACA p.R557T FAM120A_uc004atv.2_Missense_Mutation_p.R557T|FAM120A_uc004atx.2_Missense_Mutation_p.R339T|FAM120A_uc004aty.2_Missense_Mutation_p.R338T|FAM120A_uc004atz.2_Missense_Mutation_p.R206T|FAM120A_uc010mrf.1_RNA|FAM120A_uc010mrg.2_5'Flank NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 557 cytoplasm|plasma membrane RNA binding 0 GAGGTGCTGAGAGTGGCCGAG 0.592 NA 15 65 0 0 0 0 FAM120A 23196 broad.mit.edu 37 9 96320925 96320925 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:96320925C>T uc004atw.2 + 15 2756 c.2731C>T c.(2731-2733)CGT>TGT p.R911C FAM120A_uc004aty.2_Missense_Mutation_p.R692C|FAM120A_uc004atz.2_Missense_Mutation_p.R560C|FAM120A_uc010mrg.2_Intron NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 911 RNA binding. cytoplasm|plasma membrane RNA binding 0 CCGTGCCTTCCGTGTGGCGGC 0.612 NA 18 96 0 0 0 0 RBM18 92400 broad.mit.edu 37 9 125004258 125004258 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:125004258C>G uc004bma.2 - 6 644 c.478G>C c.(478-480)GAG>CAG p.E160Q RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA NM_033117 NP_149108 Q96H35 RBM18_HUMAN RNA binding motif protein 18 160 nucleotide binding|RNA binding 0 GCTGGATACTCTGCATCAGGA 0.408 NA 13 78 0 0 0 0 COL5A1 1289 broad.mit.edu 37 9 137623932 137623932 + Missense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:137623932G>T uc004cfe.2 + 9 1730 c.1348G>T c.(1348-1350)GGC>TGC p.G450C NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 450 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGACCTCGGGGCGAGAAAGG 0.527 NA 67 56 7.07e-35 7.82e-35 1 0 MAMDC4 158056 broad.mit.edu 37 9 139751179 139751179 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr9:139751179G>A uc004cjs.2 + 15 1788 c.1738G>A c.(1738-1740)GAG>AAG p.E580K MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 659 MAM 4.|Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTGTAACTTTGAGCGGGACAC 0.662 NA 10 23 0 0 0 0 PPP2R3B 28227 broad.mit.edu 37 X 306382 306382 + Missense_Mutation SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:306382G>A uc004cpg.2 - 7 1106 c.905C>T c.(904-906)GCG>GTG p.A302V PPP2R3B_uc011mha.1_Missense_Mutation_p.A141V NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 302 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTTGATGTCCGCCTCCTCCTC 0.637 NA 19 45 0 0 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407734 1407734 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:1407734G>A uc010nct.2 + 7 748 c.426G>A c.(424-426)CCG>CCA p.P142P CSF2RA_uc011mhb.1_Silent_p.P142P|CSF2RA_uc004cpq.2_Silent_p.P142P|CSF2RA_uc004cpn.2_Silent_p.P142P|CSF2RA_uc004cpo.2_Silent_p.P142P|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.P9P|CSF2RA_uc004cpp.2_Silent_p.P142P|CSF2RA_uc010ncv.2_Silent_p.P142P|CSF2RA_uc004cpr.2_Silent_p.P142P NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 142 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CGAGGGGTCCGACGGCCCCCC 0.478 NA 53 68 0 0 0 0 PIGA 5277 broad.mit.edu 37 X 15349714 15349714 + Silent SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:15349714G>A uc004cwr.2 - 2 439 c.339C>T c.(337-339)CTC>CTT p.L113L PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.L113L|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.L113L NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 113 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) ATATGTACCTGAGCAATGGCA 0.478 NA 43 10 0 0 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19568091 19568091 + Splice_Site SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:19568091C>T uc004czm.2 - 14 1810 c.1494_splice c.e14+1 p.S498_splice SH3KBP1_uc011mje.1_Splice_Site_p.S237_splice|SH3KBP1_uc011mjf.1_Splice_Site_p.S260_splice|SH3KBP1_uc004czl.2_Splice_Site_p.S461_splice|SH3KBP1_uc010nfm.2_Splice_Site NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 GAGACACTTACAGATGTGAGG 0.488 NA 5 74 0 0 0 0 SAT1 6303 broad.mit.edu 37 X 23803928 23803928 + Missense_Mutation SNP C C A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:23803928C>A uc004dau.2 + 6 665 c.471C>A c.(469-471)TTC>TTA p.F157L SAT1_uc004dav.2_RNA NM_002970 NP_002961 P21673 SAT1_HUMAN diamine N-acetyltransferase 1 157 N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding 0 Spermine(DB00127) GGAGACTGTTCAAGATCGACA 0.423 NA 17 15 1.4e-16 1.54e-16 1 0 KDM6A 7403 broad.mit.edu 37 X 44870205 44870205 + Splice_Site SNP G G A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:44870205G>A uc004dge.3 + 5 760 c.385_splice c.e5-1 p.N129_splice KDM6A_uc010nhk.2_Splice_Site_p.N129_splice|KDM6A_uc011mkz.1_Splice_Site_p.N129_splice|KDM6A_uc011mla.1_Splice_Site_p.N129_splice|KDM6A_uc011mlb.1_Splice_Site_p.N129_splice|KDM6A_uc011mlc.1_Splice_Site NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TTCCTTTACAGAATGCTGCCT 0.299 NA D|N|F|S renal|oesophageal SCC|MM 5 6 0 0 0 0 MTMR8 55613 broad.mit.edu 37 X 63555987 63555987 + Missense_Mutation SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:63555987T>A uc004dvs.2 - 10 1191 c.1123A>T c.(1123-1125)ATA>TTA p.I375L MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Missense_Mutation_p.I375L NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 375 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CCCATGGATATCCATTCCTTC 0.338 NA 33 10 0 0 0 0 IGSF1 3547 broad.mit.edu 37 X 130412064 130412064 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:130412064C>T uc004ewd.2 - 13 2324 c.2086G>A c.(2086-2088)GGC>AGC p.G696S IGSF1_uc004ewe.3_Missense_Mutation_p.G690S|IGSF1_uc004ewf.2_Missense_Mutation_p.G676S NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 696 Extracellular (Potential).|Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 AGTTCCTGGCCCCGGATTGTG 0.532 NA 37 18 0 0 0 0 ZNF75D 7626 broad.mit.edu 37 X 134426280 134426280 + Nonsense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:134426280C>T uc004eyp.2 - 4 3186 c.531G>A c.(529-531)TGG>TGA p.W177* ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 177 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGTATGTATTCCAATATTCTT 0.498 NA 5 77 0 0 0 0 LDOC1 23641 broad.mit.edu 37 X 140270912 140270912 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:140270912C>T uc004fbj.2 - 1 399 c.295G>A c.(295-297)GAA>AAA p.E99K NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 99 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) TCCTCGGCTTCCCCGGTGAGG 0.552 NA 38 24 0 0 0 0 CXorf40B 541578 broad.mit.edu 37 X 149101932 149101932 + Missense_Mutation SNP C C T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chrX:149101932C>T uc004fdy.2 - 4 677 c.161G>A c.(160-162)CGG>CAG p.R54Q CXorf40B_uc011mxs.1_RNA NM_001013845 NP_001013867 Q96DE9 CX04B_HUMAN hypothetical protein LOC541578 54 0 Acute lymphoblastic leukemia(192;6.56e-05) CAGCAGCTCCCGACAGGCATC 0.587 NA 45 24 0 0 0 0 ITGB1 3688 broad.mit.edu 37 10 33197461 33197462 + Frame_Shift_Del DEL CT CT - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr10:33197461_33197462delCT uc001iws.3 - 15 2301_2302 c.2165_2166delAG c.(2164-2166)GAGfs p.E722fs ITGB1_uc001iwp.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwq.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwr.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwt.3_Frame_Shift_Del_p.E722fs|ITGB1_uc001iwu.1_Frame_Shift_Del_p.E722fs NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 722 Extracellular (Potential). axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) CAGTGGGACACTCTGGAAAATA 0.406 NA 18 54 --- --- --- --- NA NA NA NA AHNAK2 113146 broad.mit.edu 37 14 105413766 105413767 + Frame_Shift_Del DEL AG AG - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr14:105413766_105413767delAG uc010axc.1 - 7 8141_8142 c.8021_8022delCT c.(8020-8022)TCTfs p.S2674fs AHNAK2_uc001ypx.2_Frame_Shift_Del_p.S2574fs NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2674 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTTCAGCTCAGACACATCCAC 0.564 NA 59 226 --- --- --- --- NA NA NA NA SLC7A5 8140 broad.mit.edu 37 16 87885358 87885359 + Frame_Shift_Ins INS - - A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr16:87885358_87885359insA uc002fkm.2 - 2 707_708 c.635_636insT c.(634-636)ATCfs p.I212fs NM_003486 NP_003477 Q01650 LAT1_HUMAN solute carrier family 7 (cationic amino acid 212 Helical; (Potential). blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding 0 BRCA - Breast invasive adenocarcinoma(80;0.049) AGCCCAGCAGGATGATCAGGGC 0.668 NA 14 26 --- --- --- --- NA NA NA NA ZNF750 79755 broad.mit.edu 37 17 80790225 80790226 + Frame_Shift_Ins INS - - A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr17:80790225_80790226insA uc002kga.2 - 2 416_417 c.105_106insT c.(103-108)AATGAGfs p.N35fs TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 35_36 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGTGACTTCTCATTGCAAGTAA 0.411 NA 69 29 --- --- --- --- NA NA NA NA DNM2 1785 broad.mit.edu 37 19 10893634 10893635 + Splice_Site INS - - GGCTACATT TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:10893634_10893635insGGCTACATT uc002mps.1 + 6 853 c.689_splice c.e6-1 p.G230_splice DNM2_uc010dxk.2_Splice_Site|DNM2_uc002mpt.1_Splice_Site_p.G230_splice|DNM2_uc002mpv.1_Splice_Site_p.G230_splice|DNM2_uc002mpu.1_Splice_Site_p.G230_splice|DNM2_uc010dxl.1_Splice_Site_p.G230_splice|DNM2_uc002mpw.2_5'Flank NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCTCCCCACAGGCTACATTGG 0.574 NA 9 55 --- --- --- --- NA NA NA NA C19orf2 8725 broad.mit.edu 37 19 30505952 30505952 + Frame_Shift_Del DEL T T - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr19:30505952delT uc002nsr.2 + 11 1614 c.1584delT c.(1582-1584)GCTfs p.A528fs C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Frame_Shift_Del_p.A488fs|C19orf2_uc002nst.2_Frame_Shift_Del_p.A452fs NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 528 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) AGTTTAAAGCTGCCAGATTGC 0.413 NA 27 75 --- --- --- --- NA NA NA NA ARL6IP6 151188 broad.mit.edu 37 2 153575279 153575279 + Frame_Shift_Del DEL A A - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr2:153575279delA uc002tyn.2 + 1 857 c.141delA c.(139-141)GGAfs p.G47fs ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank NM_152522 NP_689735 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting 47 integral to membrane 0 AGGAGGAGGGATGCGACCAAG 0.706 NA 7 17 --- --- --- --- NA NA NA NA ZNF334 55713 broad.mit.edu 37 20 45130984 45130985 + Frame_Shift_Ins INS - - A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:45130984_45130985insA uc002xsc.2 - 5 1177_1178 c.993_994insT c.(991-996)TTTCGGfs p.F331fs ZNF334_uc002xsa.2_Frame_Shift_Ins_p.F354fs|ZNF334_uc002xsb.2_Frame_Shift_Ins_p.F293fs|ZNF334_uc002xsd.2_Frame_Shift_Ins_p.F293fs|ZNF334_uc010ghl.2_Frame_Shift_Ins_p.F330fs NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 331_332 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) GCTGACTTCCGAAAAAAGGTCT 0.436 NA 7 185 --- --- --- --- NA NA NA NA BMP7 655 broad.mit.edu 37 20 55840910 55840910 + Frame_Shift_Del DEL A A - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr20:55840910delA uc010gip.1 - 1 798 c.269delT c.(268-270)ATGfs p.M90fs BMP7_uc010giq.1_Frame_Shift_Del_p.M90fs|BMP7_uc002xyc.2_Frame_Shift_Del_p.M90fs|uc010gir.1_5'Flank NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 90 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CTCCACCGCCATGGCGTTGTA 0.672 NA 7 9 --- --- --- --- NA NA NA NA RINT1 60561 broad.mit.edu 37 7 105190824 105190834 + Frame_Shift_Del DEL TGAAAGGGAGC TGAAAGGGAGC - TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4b194ab3-d213-4a7a-be46-909b4f0c7291 2f1b122e-205d-44be-a6e1-1fc7f2271d99 g.chr7:105190824_105190834delTGAAAGGGAGC uc003vda.1 + 9 1455_1465 c.1224_1234delTGAAAGGGAGC c.(1222-1236)TTTGAAAGGGAGCTAfs p.F408fs RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 408_412 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 TACTCTTGTTTGAAAGGGAGCTACACAGTGT 0.417 NA 8 183 --- --- --- --- NA NA NA NA