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 filter AGTRAP 57085 broad.mit.edu 37 1 11808667 11808667 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:11808667G>T uc001asv.2 + 4 488 c.364G>T c.(364-366)GGT>TGT p.G122C AGTRAP_uc001ast.2_3'UTR|AGTRAP_uc001asu.2_Intron|AGTRAP_uc001asw.2_Intron|AGTRAP_uc001asx.2_Intron NM_020350 NP_065083 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 122 Cytoplasmic (Potential).|Interaction with AGTR1. cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) stomach(2) 2 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGTCCACACTGGTGAGGCCAC 0.662 12 32 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22163388 22163388 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:22163388C>G uc001bfj.2 - 75 10302 c.10262G>C c.(10261-10263)TGT>TCT p.C3421S HSPG2_uc009vqd.2_Missense_Mutation_p.C3422S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3421 Ig-like C2-type 20. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGCACAGCACAGTGGAACTC 0.652 2 7 --- --- --- --- PASS EXTL1 2134 broad.mit.edu 37 1 26357960 26357960 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:26357960C>A uc001blf.2 + 6 2111 c.1244C>A c.(1243-1245)CCT>CAT p.P415H NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 415 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GGCTCCCGCCCTGAGGGCAGA 0.637 8 6 --- --- --- --- PASS SPOCD1 90853 broad.mit.edu 37 1 32280096 32280096 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:32280096G>A uc001bts.1 - 2 897 c.839C>T c.(838-840)TCA>TTA p.S280L SPOCD1_uc001btu.2_Missense_Mutation_p.S280L|SPOCD1_uc001btv.2_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 280 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CTCAGTCCCTGAGGCACATCC 0.637 25 85 --- --- --- --- PASS CYP4B1 1580 broad.mit.edu 37 1 47278168 47278168 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:47278168G>A uc001cqm.3 + 4 452 c.368G>A c.(367-369)GGG>GAG p.G123E CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Missense_Mutation_p.G123E|CYP4B1_uc009vym.2_Missense_Mutation_p.G108E|CYP4B1_uc010omk.1_5'UTR|CYP4B1_uc010oml.1_5'UTR NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 123 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCTTCCCCAGGGAGAGGCCTG 0.612 26 18 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55551676 55551676 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:55551676C>T uc001cyg.3 - 53 6224 c.6224G>A c.(6223-6225)CGA>CAA p.R2075Q NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2235 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CACAGCAACTCGTACTTCTCT 0.408 51 40 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55603512 55603512 + Silent SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:55603512C>A uc001cyg.3 - 24 2514 c.2514G>T c.(2512-2514)GTG>GTT p.V838V NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 998 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 GTATATTATCCACAGGAGAGC 0.318 4 17 --- --- --- --- PASS ITGB3BP 23421 broad.mit.edu 37 1 63919644 63919644 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:63919644C>T uc001dba.1 - 7 460 c.429G>A c.(427-429)ATG>ATA p.M143I ITGB3BP_uc001dbb.1_Missense_Mutation_p.M182I|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Missense_Mutation_p.M165I|ITGB3BP_uc001dbe.1_Missense_Mutation_p.M56I NM_014288 NP_055103 Q13352 CENPR_HUMAN integrin beta 3 binding protein 143 apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity 0 TCACTTTTGTCACTAAAAGAA 0.279 26 37 --- --- --- --- PASS LRRC8B 23507 broad.mit.edu 37 1 90049602 90049602 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:90049602C>T uc001dni.2 + 7 1900 c.1393C>T c.(1393-1395)CTC>TTC p.L465F LRRC8B_uc001dnh.2_Missense_Mutation_p.L465F|LRRC8B_uc001dnj.2_Missense_Mutation_p.L465F NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 465 LRR 1. integral to membrane p.L465V(1) ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GCTGGTCAACCTCAAGGAGCT 0.473 48 48 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99753705 99753705 + Missense_Mutation SNP C G G rs145727766 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:99753705C>G uc001dse.2 + 2 513 c.407C>G c.(406-408)ACG>AGG p.T136R LPPR4_uc010oue.1_Missense_Mutation_p.T136R NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 136 Helical; (Potential). phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCTGCAATTACGGTAAGAATT 0.413 47 73 --- --- --- --- PASS KCNA10 3744 broad.mit.edu 37 1 111059902 111059902 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:111059902C>A uc001dzt.1 - 1 1896 c.1508G>T c.(1507-1509)GGC>GTC p.G503V NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 503 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGTGGAACAGCCACCATTGGT 0.358 26 85 --- --- --- --- PASS KCNA10 3744 broad.mit.edu 37 1 111059903 111059903 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:111059903C>T uc001dzt.1 - 1 1895 c.1507G>A c.(1507-1509)GGC>AGC p.G503S NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 503 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GTGGAACAGCCACCATTGGTC 0.363 26 85 --- --- --- --- PASS SELENBP1 8991 broad.mit.edu 37 1 151337064 151337064 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:151337064C>T uc001exx.2 - 12 1421 c.1374G>A c.(1372-1374)GAG>GAA p.E458E SELENBP1_uc010pcy.1_Silent_p.E500E|SELENBP1_uc001exy.2_Silent_p.E355E|SELENBP1_uc001exz.2_Silent_p.E355E|SELENBP1_uc010pcz.1_Silent_p.E396E|SELENBP1_uc009wms.2_Silent_p.E294E|SELENBP1_uc009wmt.2_Silent_p.E355E|SELENBP1_uc001eya.2_Silent_p.E394E|SELENBP1_uc009wmu.2_3'UTR NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 458 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGTAGCGGAGCTCATGGGCAA 0.567 9 454 --- --- --- --- PASS SHC1 6464 broad.mit.edu 37 1 154938440 154938440 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:154938440G>A uc001ffv.2 - 10 1587 c.1366C>T c.(1366-1368)CGG>TGG p.R456W SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R227W|SHC1_uc001ffw.2_Missense_Mutation_p.R457W|SHC1_uc001ffx.2_Missense_Mutation_p.R347W|SHC1_uc001ffy.2_Missense_Mutation_p.R346W NM_183001 NP_892113 P29353 SHC1_HUMAN SHC-transforming protein 1 isoform 1 456 Pro-rich.|CH1. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(1)|skin(1) 2 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AACAGGTCCCGGGGTGCACTG 0.562 10 330 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158225133 158225133 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:158225133G>A uc001frt.2 + 2 851 c.318G>A c.(316-318)CAG>CAA p.Q106Q NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 106 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ATGAATTGCAGTTTGAATGTG 0.443 22 44 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158326608 158326608 + Missense_Mutation SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:158326608G>C uc001fse.2 + 6 1328 c.1089G>C c.(1087-1089)CAG>CAC p.Q363H CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.Q273H|CD1E_uc001fsj.2_Missense_Mutation_p.Q206H|CD1E_uc001fsc.2_Missense_Mutation_p.Q174H|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.Q119H|CD1E_uc001fsf.2_Missense_Mutation_p.Q351H|CD1E_uc001fry.2_Missense_Mutation_p.Q296H|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.Q162H|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.Q264H|CD1E_uc001frz.2_Missense_Mutation_p.Q261H|CD1E_uc009wsw.2_Missense_Mutation_p.S78T NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 363 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CAAGACATCAGTTCTGCTTGG 0.433 26 108 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158650403 158650403 + Missense_Mutation SNP T G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:158650403T>G uc001fst.1 - 5 847 c.648A>C c.(646-648)GAA>GAC p.E216D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 216 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATTGGTTCACTTCAACAACTC 0.463 86 70 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158650429 158650429 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:158650429C>A uc001fst.1 - 5 821 c.622G>T c.(622-624)GTA>TTA p.V208L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 208 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCTTTAGCTACCAGCTCCACT 0.478 32 130 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158686969 158686969 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:158686969G>T uc010pip.1 - 1 985 c.985C>A c.(985-987)CCT>ACT p.P329T NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 329 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TAACCTCCAGGCTTGTTCAAC 0.289 6 176 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169492482 169492482 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:169492482G>T uc001ggg.1 - 21 6146 c.6001C>A c.(6001-6003)CAG>AAG p.Q2001K NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 2001 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CAGTTGATCTGGTTGGAACTG 0.438 42 111 --- --- --- --- PASS EDEM3 80267 broad.mit.edu 37 1 184718701 184718701 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:184718701G>T uc010pok.1 - 2 445 c.184C>A c.(184-186)CAT>AAT p.H62N EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.H62N|EDEM3_uc001gqy.2_Intron NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 62 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 CCATAAGCATGATCAAACATT 0.284 3 28 --- --- --- --- PASS FAM129A 116496 broad.mit.edu 37 1 184764870 184764870 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:184764870G>A uc001gra.2 - 14 2222 c.2028C>T c.(2026-2028)CTC>CTT p.L676L FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 676 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 ATGTGCCCGGGAGTCCTGCTG 0.577 24 65 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197009796 197009796 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:197009796C>T uc001gtt.1 - 11 1852 c.1808G>A c.(1807-1809)AGA>AAA p.R603K NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 603 Sushi 10. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AATGTGTGGTCTATTGTCAAA 0.299 10 55 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216591901 216591901 + Silent SNP T G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:216591901T>G uc001hku.1 - 3 993 c.606A>C c.(604-606)ACA>ACC p.T202T USH2A_uc001hkv.2_Silent_p.T202T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 202 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCTCCCCAGTGTCATTACTT 0.338 HNSCC(13;0.011) 59 87 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216591902 216591902 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:216591902G>T uc001hku.1 - 3 992 c.605C>A c.(604-606)ACA>AAA p.T202K USH2A_uc001hkv.2_Missense_Mutation_p.T202K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 202 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTCCCCAGTGTCATTACTTT 0.343 HNSCC(13;0.011) 59 86 --- --- --- --- PASS HIST3H2BB 128312 broad.mit.edu 37 1 228645991 228645991 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:228645991G>A uc001hsz.2 + 1 184 c.161G>A c.(160-162)GGC>GAC p.G54D HIST3H2A_uc001hsy.2_5'Flank NM_175055 NP_778225 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 Prostate(94;0.183) CCCGACACCGGCATCTCGTCC 0.587 4 198 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236925903 236925903 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:236925903G>T uc001hyf.2 + 21 2873 c.2669G>T c.(2668-2670)GGG>GTG p.G890V ACTN2_uc001hyg.2_Missense_Mutation_p.G682V|ACTN2_uc009xgi.1_Missense_Mutation_p.G890V|ACTN2_uc010pxu.1_Missense_Mutation_p.G579V|ACTN2_uc001hyh.2_Missense_Mutation_p.G578V NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 890 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCACTCTACGGGGAGAGCGAT 0.527 43 37 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978180 247978180 + Silent SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr1:247978180G>C uc001idm.1 - 1 852 c.852C>G c.(850-852)CCC>CCG p.P284P NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTATATAATGGGATTAAAGG 0.408 43 52 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32738147 32738147 + Silent SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:32738147A>G uc010ezu.2 + 54 10628 c.10494A>G c.(10492-10494)GCA>GCG p.A3498A NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3498 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACTGTGTAGCAGCCATTCTGT 0.423 30 79 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190942 49190942 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:49190942C>T uc002rww.2 - 10 1092 c.1018G>A c.(1018-1020)GAA>AAA p.E340K FSHR_uc002rwx.2_Missense_Mutation_p.E278K|FSHR_uc010fbn.2_Missense_Mutation_p.E314K NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 340 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCAACCACTTCATTGCATAAG 0.473 Gonadal_Dysgenesis_46_XX 59 159 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745749 77745749 + Nonsense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:77745749C>A uc002snr.2 - 3 1661 c.1246G>T c.(1246-1248)GAG>TAG p.E416* LRRTM4_uc002snq.2_Nonsense_Mutation_p.E416*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.E416*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.E417* NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 416 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGCTCATACTCTTGCTCTGCG 0.478 22 79 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90260098 90260098 + RNA SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:90260098G>C uc010fhm.2 + 30 c.4081G>C Parts of antibodies, mostly variable regions. AAGCCCCTGAGCTCCTGATCT 0.507 8 154 --- --- --- --- PASS STEAP3 55240 broad.mit.edu 37 2 120012355 120012355 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:120012355C>T uc002tlp.2 + 5 1273 c.1116C>T c.(1114-1116)TCC>TCT p.S372S STEAP3_uc002tlq.2_Silent_p.S382S|STEAP3_uc002tlr.2_Silent_p.S372S|STEAP3_uc010fle.2_Silent_p.S372S NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 372 Ferric oxidoreductase.|Helical; (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 GCACGTTGTCCCTGCTGGCCG 0.592 38 35 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136570431 136570431 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:136570431C>T uc002tuu.1 - 7 1814 c.1803G>A c.(1801-1803)CTG>CTA p.L601L NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 601 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) AGTCTGAGTTCAGCACAATGC 0.592 15 60 --- --- --- --- PASS CHRNA1 1134 broad.mit.edu 37 2 175619132 175619132 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:175619132C>T uc002ujd.2 - 6 508 c.430G>A c.(430-432)GAC>AAC p.D144N uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.D119N|CHRNA1_uc002ujf.3_Missense_Mutation_p.D119N NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 144 Extracellular. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 ATAGCAAAGTCACCATCTGCA 0.463 34 31 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:178098960C>G uc002ulh.3 - 2 640 c.85G>C c.(85-87)GAT>CAT p.D29H NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363 Mis NSCLC|HNSCC HNSCC(56;0.16) 40 34 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179498792 179498792 + Missense_Mutation SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:179498792A>T uc010zfg.1 - 180 34954 c.34730T>A c.(34729-34731)ATG>AAG p.M11577K TTN_uc010zfh.1_Missense_Mutation_p.M5272K|TTN_uc010zfi.1_Missense_Mutation_p.M5205K|TTN_uc010zfj.1_Missense_Mutation_p.M5080K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12504 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) AAGAGGTGACATGAATTTCAG 0.353 21 92 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179501193 179501193 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:179501193C>T uc010zfg.1 - 174 33781 c.33557G>A c.(33556-33558)GGT>GAT p.G11186D TTN_uc010zfh.1_Missense_Mutation_p.G4881D|TTN_uc010zfi.1_Missense_Mutation_p.G4814D|TTN_uc010zfj.1_Missense_Mutation_p.G4689D|TTN_uc010fre.1_Missense_Mutation_p.G1047D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12113 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) GGTGTATTCACCAGCATCGGA 0.398 18 64 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179526556 179526556 + Silent SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:179526556G>C uc010zfk.1 - 23 2039 c.1491C>G c.(1489-1491)CCC>CCG p.P497P TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11734 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) CAACTTCTTTGGGAGCCTCTG 0.413 29 36 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200193544 200193544 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:200193544G>A uc002uuy.1 - 8 2080 c.1263C>T c.(1261-1263)TTC>TTT p.F421F SATB2_uc010fsq.1_Silent_p.F303F|SATB2_uc002uuz.1_Silent_p.F421F|SATB2_uc002uva.1_Silent_p.F421F NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 421 CUT 1. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 GCAGATTGAGGAAATTCTGCA 0.517 16 70 --- --- --- --- PASS TRAK2 66008 broad.mit.edu 37 2 202254569 202254569 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:202254569C>A uc002uyb.3 - 11 1594 c.1148G>T c.(1147-1149)CGT>CTT p.R383L NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 383 Interaction with HGS (By similarity). Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 CAGCTTTTTACGCATAGTCCC 0.348 44 187 --- --- --- --- PASS INO80D 54891 broad.mit.edu 37 2 206869731 206869731 + Silent SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:206869731T>C uc002vaz.3 - 11 2850 c.2445A>G c.(2443-2445)CAA>CAG p.Q815Q NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 815 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CACTGCTGTATTGCTGTCGTG 0.537 66 261 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207172252 207172252 + Silent SNP A C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:207172252A>C uc002vbp.2 + 5 3250 c.3000A>C c.(2998-3000)ACA>ACC p.T1000T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1000 nucleic acid binding|zinc ion binding ovary(3) 3 GTTCAAAAACAAGTTTAGATT 0.358 21 80 --- --- --- --- PASS UGT1A5 54579 broad.mit.edu 37 2 234622111 234622111 + Silent SNP G A A rs147117995 byFrequency TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr2:234622111G>A uc002vuw.2 + 1 474 c.474G>A c.(472-474)GCG>GCA p.A158A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.A158A NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 158 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ACCTCTGCGCGGCGGTGCTGG 0.493 4 225 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74385786 74385786 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:74385786C>G uc003dpm.1 - 11 1468 c.1388G>C c.(1387-1389)GGA>GCA p.G463A NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 463 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TATTTTGAGTCCTCCATCGTT 0.323 20 40 --- --- --- --- PASS PROS1 5627 broad.mit.edu 37 3 93624922 93624922 + Missense_Mutation SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:93624922T>C uc003drb.3 - 5 753 c.412A>G c.(412-414)AAA>GAA p.K138E PROS1_uc010hoo.2_Missense_Mutation_p.K7E|PROS1_uc003dqz.3_Missense_Mutation_p.K7E NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 138 EGF-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AAAGAAGCTTTTCCATCTTTG 0.418 51 369 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119347676 119347676 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:119347676G>A uc003ecu.2 + 10 1289 c.1250G>A c.(1249-1251)GGG>GAG p.G417E PLA1A_uc003ecv.2_Missense_Mutation_p.G401E|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.G244E NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 417 Involved in the recognition of diacyl- phospholipids. lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACCATTATTGGGAAGTTCTGC 0.463 31 226 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129547121 129547121 + Missense_Mutation SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:129547121A>G uc003emz.3 - 4 602 c.101T>C c.(100-102)TTG>TCG p.L34S TMCC1_uc010htg.2_Intron NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 34 integral to membrane skin(1) 1 CATTTTAGACAATTTTTGTTC 0.483 70 294 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134670776 134670776 + Silent SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:134670776A>G uc003eqt.2 + 3 907 c.687A>G c.(685-687)GCA>GCG p.A229A EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 229 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TCCCCAACGCAGAGGAAGTGG 0.547 393 218 --- --- --- --- PASS IL20RB 53833 broad.mit.edu 37 3 136710897 136710897 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:136710897G>A uc003eri.1 + 5 898 c.649G>A c.(649-651)GCC>ACC p.A217T IL20RB_uc003erj.1_Intron|IL20RB_uc010hud.1_Missense_Mutation_p.A75T NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta precursor 217 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(1) 1 GAGGTACAGCGCCTTCAGCCA 0.572 29 166 --- --- --- --- PASS MRAS 22808 broad.mit.edu 37 3 138117349 138117349 + Missense_Mutation SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:138117349A>G uc003esh.3 + 4 947 c.386A>G c.(385-387)GAT>GGT p.D129G MRAS_uc011bmi.1_Missense_Mutation_p.D53G|MRAS_uc003esi.3_Missense_Mutation_p.D129G|MRAS_uc011bmj.1_Missense_Mutation_p.D53G NM_012219 NP_036351 O14807 RASM_HUMAN muscle RAS oncogene homolog precursor 129 GTP (By similarity). actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AACAAGGTCGATTTGATGCAC 0.512 5 235 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154834694 154834694 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:154834694G>A uc010hvr.1 + 7 784 c.573G>A c.(571-573)CTG>CTA p.L191L MME_uc003fab.1_Silent_p.L191L|MME_uc003fac.1_Silent_p.L191L|MME_uc003fad.1_Silent_p.L191L|MME_uc003fae.1_Silent_p.L191L NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 191 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGCACAACTGAATTCTAAAT 0.289 159 89 --- --- --- --- PASS RTP1 132112 broad.mit.edu 37 3 186917714 186917714 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:186917714C>T uc003frg.2 + 2 678 c.648C>T c.(646-648)ACC>ACT p.T216T NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 216 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CCACCTACACCTTCTCCCGGG 0.667 4 209 --- --- --- --- PASS LEPREL1 55214 broad.mit.edu 37 3 189692442 189692442 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:189692442C>T uc011bsk.1 - 9 1745 c.1357G>A c.(1357-1359)GTC>ATC p.V453I LEPREL1_uc003fsg.2_Missense_Mutation_p.V272I NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 453 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GAGTTGTAGACGAATGTGATG 0.537 18 216 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196613165 196613165 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:196613165G>A uc003fwz.3 + 2 1362 c.1113G>A c.(1111-1113)CTG>CTA p.L371L SENP5_uc011bty.1_Silent_p.L371L NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 371 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) GTACAGAGCTGATTCATGACA 0.438 12 202 --- --- --- --- PASS ZNF595 152687 broad.mit.edu 37 4 53386 53386 + Splice_Site SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:53386G>T uc003fzv.1 + 1 159 c.3_splice c.e1+1 p.M1_splice ZNF595_uc003fzu.1_Splice_Site|ZNF718_uc003fzt.3_Splice_Site_p.M1_splice|ZNF595_uc010iay.1_Splice_Site|ZNF595_uc011bus.1_Splice_Site|ZNF595_uc011but.1_Splice_Site NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TCGGGAAATGGTGAGTGTGCG 0.642 31 382 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30724344 30724344 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:30724344G>A uc003gsk.1 + 1 2308 c.1300G>A c.(1300-1302)GAG>AAG p.E434K PCDH7_uc011bxw.1_Missense_Mutation_p.E387K|PCDH7_uc011bxx.1_Missense_Mutation_p.E434K NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 434 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CAACGTGGCCGAGGACGTTCT 0.627 32 11 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46125865 46125865 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:46125865C>T uc003gxb.2 - 1 218 c.66G>A c.(64-66)AGG>AGA p.R22R NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 22 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGAAGACCAACCTCACCCCTC 0.453 22 13 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55136842 55136842 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:55136842C>A uc003han.3 + 8 1495 c.1164C>A c.(1162-1164)GAC>GAA p.D388E PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.D282E|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 388 Ig-like C2-type 4.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AGGAAGAAGACAGTGGCCATT 0.338 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 46 38 --- --- --- --- PASS SRD5A3 79644 broad.mit.edu 37 4 56212685 56212685 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:56212685C>T uc003hau.2 + 1 277 c.182C>T c.(181-183)TCG>TTG p.S61L NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 61 Lumenal (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) GGGGAGCCGTCGCGCCCCGCC 0.706 15 1 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123230459 123230459 + Missense_Mutation SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:123230459G>C uc003ieh.2 + 57 10137 c.10092G>C c.(10090-10092)TTG>TTC p.L3364F KIAA1109_uc003iel.1_Missense_Mutation_p.L1299F NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3364 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GTTCTGCTTTGGTATTAACCA 0.353 56 35 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187524342 187524342 + Missense_Mutation SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr4:187524342A>T uc003izf.2 - 19 11526 c.11338T>A c.(11338-11340)TGT>AGT p.C3780S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3780 Extracellular (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTGCAGAGACACACCGCTGCC 0.498 HNSCC(5;0.00058) 8 15 --- --- --- --- PASS TERT 7015 broad.mit.edu 37 5 1253924 1253924 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:1253924C>T uc003jcb.1 - 16 3376 c.3318G>A c.(3316-3318)AAG>AAA p.K1106K TERT_uc003jbz.1_Silent_p.K302K|TERT_uc003jca.1_Silent_p.K1094K|TERT_uc003jcc.1_Silent_p.K1043K|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 1106 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCCCGGGAGCTTCCGACTCA 0.657 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 9 12 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24511474 24511474 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:24511474C>T uc003jgr.1 - 6 1296 c.964G>A c.(964-966)GAG>AAG p.E322K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 322 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GTGTCCTTCTCAGTCACGATG 0.413 HNSCC(23;0.051) 128 201 --- --- --- --- PASS TTC23L 153657 broad.mit.edu 37 5 34863137 34863137 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:34863137G>A uc003jiu.2 + 5 617 c.514G>A c.(514-516)GTG>ATG p.V172M TTC23L_uc003jiv.2_5'Flank|TTC23L_uc010iut.1_5'Flank NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 172 binding central_nervous_system(1) 1 CACTCTGGGCGTGGCCTGGCT 0.517 6 189 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36051998 36051998 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:36051998G>T uc003jjz.1 - 3 378 c.285C>A c.(283-285)TTC>TTA p.F95L UGT3A2_uc011cos.1_Missense_Mutation_p.F61L|UGT3A2_uc011cot.1_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 95 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTCCAGAAAGAAATCAAAAC 0.308 33 62 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38921735 38921735 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:38921735G>A uc003jln.1 + 12 1971 c.1604G>A c.(1603-1605)AGA>AAA p.R535K OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 535 Fibronectin type-III 3.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) GAGGAAGAAAGAATTGCAGGC 0.398 44 87 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41009428 41009428 + Missense_Mutation SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:41009428A>T uc003jmj.3 - 32 3864 c.3374T>A c.(3373-3375)CTG>CAG p.L1125Q HEATR7B2_uc003jmi.3_Missense_Mutation_p.L680Q NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1125 HEAT 12. binding ovary(6)|central_nervous_system(2) 8 CTCAGTCTCCAGTTTGTCTAT 0.502 72 112 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127729049 127729049 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:127729049C>T uc003kuu.2 - 10 1683 c.1244G>A c.(1243-1245)AGA>AAA p.R415K FBN2_uc003kuv.2_Missense_Mutation_p.R382K NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 415 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATGCAAAGTCTGCGATATTC 0.478 55 30 --- --- --- --- PASS TRPC7 57113 broad.mit.edu 37 5 135583342 135583342 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:135583342C>A uc003lbn.1 - 6 1661 c.1658G>T c.(1657-1659)CGC>CTC p.R553L TRPC7_uc010jef.1_Missense_Mutation_p.R490L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R484L|TRPC7_uc010jei.1_Missense_Mutation_p.R429L|TRPC7_uc010jej.1_Missense_Mutation_p.R105L NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 554 Helical; (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTATGCAATGCGAGAGAAGCT 0.498 70 32 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140214080 140214080 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:140214080G>A uc003lhq.2 + 1 112 c.112G>A c.(112-114)GAG>AAG p.E38K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.E38K NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 38 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCCCCGAGGAGGCTAAACA 0.617 89 44 --- --- --- --- PASS PCDH1 5097 broad.mit.edu 37 5 141243253 141243253 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:141243253C>A uc003llq.2 - 3 2760 c.2643G>T c.(2641-2643)GAG>GAT p.E881D PCDH1_uc003llp.2_Missense_Mutation_p.E881D|PCDH1_uc011dbf.1_Missense_Mutation_p.E859D NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 881 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CACTTTTGGCCTCCCGCTGTC 0.582 200 104 --- --- --- --- PASS RNF145 153830 broad.mit.edu 37 5 158603839 158603839 + Missense_Mutation SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:158603839A>G uc003lxp.2 - 5 735 c.422T>C c.(421-423)ATG>ACG p.M141T RNF145_uc011ddy.1_Missense_Mutation_p.M155T|RNF145_uc003lxo.1_Missense_Mutation_p.M169T|RNF145_uc011ddz.1_Missense_Mutation_p.M158T|RNF145_uc010jiq.1_Missense_Mutation_p.M171T|RNF145_uc011dea.1_Missense_Mutation_p.M157T NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 141 Helical; (Potential). integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTGTTTTCATGACACAGGA 0.363 3 28 --- --- --- --- PASS FOXI1 2299 broad.mit.edu 37 5 169533492 169533492 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:169533492C>T uc003mai.3 + 1 576 c.531C>T c.(529-531)CTC>CTT p.L177L FOXI1_uc003maj.3_Silent_p.L177L NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 177 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCTGTCGCTCAACGACTGCT 0.592 Pendred_syndrome 15 13 --- --- --- --- PASS TRIM38 10475 broad.mit.edu 37 6 25983831 25983831 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr6:25983831G>T uc003nfm.2 + 8 1749 c.1314G>T c.(1312-1314)CCG>CCT p.P438P TRIM38_uc003nfn.2_Silent_p.P420P|TRIM38_uc010jqd.2_Silent_p.P74P NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 438 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 TTACTTTCCCGAAGGCTTCCT 0.478 47 36 --- --- --- --- PASS MOCS1 4337 broad.mit.edu 37 6 39874178 39874178 + Silent SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr6:39874178G>C uc003opb.2 - 10 2004 c.1866C>G c.(1864-1866)CTC>CTG p.L622L MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Silent_p.L606L|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Silent_p.L519L NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 622 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TCTTGCTAATGAGCTTGATCT 0.602 103 59 --- --- --- --- PASS GPR110 266977 broad.mit.edu 37 6 46977155 46977155 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr6:46977155G>A uc003oyt.2 - 11 2215 c.2016C>T c.(2014-2016)TTC>TTT p.F672F GPR110_uc011dwl.1_Silent_p.F360F NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 672 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GCATCCAGAAGAACAAAGAGA 0.502 18 9 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70970387 70970387 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr6:70970387G>T uc003pfg.3 - 20 1581 c.1422C>A c.(1420-1422)ACC>ACA p.T474T COL9A1_uc003pfe.3_Silent_p.T47T|COL9A1_uc003pff.3_Silent_p.T231T NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 474 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CAACTATGCCGGTGATGCCTC 0.348 31 18 --- --- --- --- PASS BEND3 57673 broad.mit.edu 37 6 107391717 107391717 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr6:107391717G>A uc003prs.2 - 5 1328 c.678C>T c.(676-678)CGC>CGT p.R226R NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 226 ovary(3) 3 GCTTCTTGATGCGGCTCACCT 0.572 46 24 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18674283 18674283 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:18674283G>T uc003suh.2 + 7 862 c.821G>T c.(820-822)GGT>GTT p.G274V HDAC9_uc003sue.2_Missense_Mutation_p.G274V|HDAC9_uc011jyd.1_Missense_Mutation_p.G274V|HDAC9_uc003sui.2_Missense_Mutation_p.G277V|HDAC9_uc003suj.2_Missense_Mutation_p.G233V|HDAC9_uc011jya.1_Missense_Mutation_p.G271V|HDAC9_uc003sua.1_Missense_Mutation_p.G252V|HDAC9_uc011jyb.1_Missense_Mutation_p.G230V|HDAC9_uc003sud.1_Missense_Mutation_p.G274V|HDAC9_uc011jyc.1_Missense_Mutation_p.G233V|HDAC9_uc003suf.1_Missense_Mutation_p.G305V|HDAC9_uc010kud.1_Missense_Mutation_p.G277V|HDAC9_uc011jye.1_Missense_Mutation_p.G246V|HDAC9_uc011jyf.1_Missense_Mutation_p.G197V|HDAC9_uc010kue.1_Missense_Mutation_p.G17V NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 274 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CCAGGCTCTGGTCCCAGTTCA 0.423 10 10 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21639577 21639577 + Missense_Mutation SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:21639577A>T uc003svc.2 + 15 2871 c.2840A>T c.(2839-2841)CAA>CTA p.Q947L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 947 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTTCAAGCACAAATGATCTTG 0.403 Kartagener_syndrome 15 53 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378049 31378049 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:31378049G>T uc003tch.2 - 2 1187 c.834C>A c.(832-834)ACC>ACA p.T278T NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 278 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 CATAGTCCAAGGTTTCTTCTT 0.493 66 66 --- --- --- --- PASS TBL2 26608 broad.mit.edu 37 7 72985210 72985210 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:72985210C>A uc003tyh.2 - 7 1105 c.971G>T c.(970-972)GGC>GTC p.G324V TBL2_uc011kex.1_Missense_Mutation_p.G288V|TBL2_uc010lbg.2_Missense_Mutation_p.G229V|TBL2_uc003tyi.2_Missense_Mutation_p.G159V|TBL2_uc011key.1_Missense_Mutation_p.G195V|TBL2_uc010lbh.2_Missense_Mutation_p.G229V NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 324 0 Lung NSC(55;0.0659)|all_lung(88;0.152) TTCAAAGCGGCCTGTCTTCAG 0.582 27 83 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86415870 86415870 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:86415870G>T uc003uid.2 + 3 1861 c.762G>T c.(760-762)AAG>AAT p.K254N GRM3_uc010lef.2_Missense_Mutation_p.K252N|GRM3_uc010leg.2_Missense_Mutation_p.K126N|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 254 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACATCCGCAAGTCCTACGACA 0.632 27 41 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964707 88964707 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:88964707G>T uc011khi.1 + 4 2949 c.2411G>T c.(2410-2412)TGC>TTC p.C804F NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 804 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TATTGTCACTGCAGAGAAAGA 0.358 HNSCC(36;0.09) 34 50 --- --- --- --- PASS HEPACAM2 253012 broad.mit.edu 37 7 92844914 92844914 + Missense_Mutation SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:92844914A>G uc003umm.2 - 3 538 c.515T>C c.(514-516)GTG>GCG p.V172A HEPACAM2_uc003uml.2_Missense_Mutation_p.V160A|HEPACAM2_uc010lff.2_Missense_Mutation_p.V160A|HEPACAM2_uc011khy.1_Missense_Mutation_p.V195A NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 172 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 GCCCCCTTCCACATGGCATGT 0.507 48 48 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98546248 98546248 + Silent SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:98546248A>G uc003upp.2 + 34 4916 c.4707A>G c.(4705-4707)ACA>ACG p.T1569T TRRAP_uc011kis.1_Silent_p.T1551T|TRRAP_uc003upr.2_Silent_p.T1268T NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1569 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCTCGCAGACAGTGGAGCTGT 0.532 41 119 --- --- --- --- PASS CCDC136 64753 broad.mit.edu 37 7 128446399 128446399 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:128446399C>T uc003vnv.1 + 8 1565 c.1198C>T c.(1198-1200)CGG>TGG p.R400W CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R216W|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.R10W NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 400 integral to membrane protein binding ovary(2) 2 GACTGAGCTCCGGCAGCTCAA 0.483 10 11 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137237168 137237168 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:137237168C>A uc003vtt.2 - 20 2095 c.2094G>T c.(2092-2094)CAG>CAT p.Q698H DGKI_uc003vtu.2_Missense_Mutation_p.Q398H NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 698 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CCATGTTGGCCTGATTCCTCA 0.493 90 97 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137266637 137266637 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:137266637C>G uc003vtt.2 - 15 1602 c.1601G>C c.(1600-1602)GGA>GCA p.G534A DGKI_uc003vtu.2_Missense_Mutation_p.G234A NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 534 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GGCATCAAATCCAAGGCTGAA 0.443 38 51 --- --- --- --- PASS EPHB6 2051 broad.mit.edu 37 7 142561730 142561730 + Nonsense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:142561730G>T uc011kst.1 + 7 959 c.172G>T c.(172-174)GAG>TAG p.E58* EPHB6_uc011ksu.1_Nonsense_Mutation_p.E58*|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 58 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GCAGTGGGACGAGGTGAGTGT 0.592 4 299 --- --- --- --- PASS ZNF746 155061 broad.mit.edu 37 7 149172312 149172312 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr7:149172312C>G uc003wfw.2 - 7 1369 c.1098G>C c.(1096-1098)GAG>GAC p.E366D ZNF746_uc010lpi.2_Missense_Mutation_p.E367D NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 366 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CAGGAGGGGTCTCCTCCTGGG 0.701 23 36 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 4494992 4494992 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr8:4494992G>A uc011kwk.1 - 2 564 c.174C>T c.(172-174)TGC>TGT p.C58C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 58 Extracellular (Potential).|CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGATCCAGGTGCAGTTGGCAT 0.478 32 68 --- --- --- --- PASS MYBL1 4603 broad.mit.edu 37 8 67507919 67507919 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr8:67507919C>T uc003xwj.2 - 6 993 c.586G>A c.(586-588)GAT>AAT p.D196N MYBL1_uc003xwl.2_Missense_Mutation_p.D196N|MYBL1_uc003xwk.2_Missense_Mutation_p.D196N NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 196 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TTTATTCCATCTTGTAAATAG 0.343 7 11 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885742 88885742 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr8:88885742G>T uc003ydz.2 - 1 555 c.458C>A c.(457-459)CCA>CAA p.P153Q NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 153 ovary(1) 1 GGCACAGCTTGGAGTATCTGC 0.552 63 37 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124157050 124157050 + Nonsense_Mutation SNP G T T rs147130740 byFrequency TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr8:124157050G>T uc003ypp.1 + 20 3019 c.2929G>T c.(2929-2931)GAG>TAG p.E977* WDR67_uc011lig.1_Nonsense_Mutation_p.E881*|WDR67_uc011lih.1_Nonsense_Mutation_p.E867*|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Nonsense_Mutation_p.E611*|WDR67_uc003ypt.1_Nonsense_Mutation_p.E369*|WDR67_uc003ypu.1_Nonsense_Mutation_p.E369* NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 977 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TTTAAAGCAAGAGATAAATGC 0.388 46 31 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133899340 133899340 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr8:133899340C>T uc003ytw.2 + 9 1764 c.1723C>T c.(1723-1725)CCA>TCA p.P575S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 575 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTGGAGCTTCCAGAATTCCT 0.453 6 100 --- --- --- --- PASS KIAA1539 80256 broad.mit.edu 37 9 35105947 35105947 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr9:35105947G>T uc003zwl.2 - 7 1603 c.1278C>A c.(1276-1278)ACC>ACA p.T426T STOML2_uc003zwh.2_5'Flank|STOML2_uc003zwi.2_5'Flank|STOML2_uc003zwj.2_5'Flank|STOML2_uc011lou.1_5'Flank|STOML2_uc003zwk.2_5'Flank|KIAA1539_uc003zwm.2_Silent_p.T426T|KIAA1539_uc003zwn.2_Silent_p.T121T|KIAA1539_uc003zwo.2_Silent_p.T426T|KIAA1539_uc003zwp.1_Silent_p.T426T|KIAA1539_uc010mkk.1_RNA NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 426 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCACTTGGACGGTGCCCACCT 0.597 25 68 --- --- --- --- PASS PAX5 5079 broad.mit.edu 37 9 36846876 36846876 + Missense_Mutation SNP T A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr9:36846876T>A uc003zzo.1 - 9 1511 c.1063A>T c.(1063-1065)AAC>TAC p.N355Y PAX5_uc011lpt.1_Missense_Mutation_p.N151Y|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.N255Y|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.N312Y|PAX5_uc011lqa.1_Missense_Mutation_p.N247Y|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.N321Y|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Silent_p.T277T NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 355 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(11)|p.N355H(1) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CAGGAGTCGTTGTACGAGGAA 0.597 T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 81 50 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113191430 113191430 + Nonsense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr9:113191430C>A uc010mtz.2 - 35 6137 c.5800G>T c.(5800-5802)GGA>TGA p.G1934* SVEP1_uc010mty.2_Translation_Start_Site NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1934 Sushi 9. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TACCTGTATCCTGTATCGCAT 0.308 11 12 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 120053768 120053768 + Missense_Mutation SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr9:120053768A>G uc004bjs.1 - 2 568 c.467T>C c.(466-468)ATC>ACC p.I156T ASTN2_uc004bjr.1_Missense_Mutation_p.I156T|ASTN2_uc004bjt.1_Missense_Mutation_p.I156T NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 156 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CACCAGCGAGATGTCCGCTGC 0.627 22 11 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7409783 7409783 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr10:7409783C>T uc009xio.1 - 4 355 c.264G>A c.(262-264)CCG>CCA p.P88P SFMBT2_uc001ijn.1_Silent_p.P88P|SFMBT2_uc010qay.1_Silent_p.P88P|SFMBT2_uc001ijo.1_Silent_p.P88P NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 88 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 AGTACGTGTCCGGGTTGTTCT 0.517 31 14 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105830203 105830203 + Silent SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr10:105830203C>G uc001kxr.2 - 9 757 c.588G>C c.(586-588)GTG>GTC p.V196V COL17A1_uc010qqv.1_Silent_p.V180V|COL17A1_uc009xxp.1_Silent_p.V196V NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 196 Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGCTCGCTGTCACAATTTTGG 0.438 42 21 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121671669 121671669 + Silent SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr10:121671669T>C uc001leu.1 + 6 1377 c.1305T>C c.(1303-1305)ATT>ATC p.I435I SEC23IP_uc010qtc.1_Silent_p.I224I NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 435 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TTGATGAAATTCCCGACGGTG 0.428 3 153 --- --- --- --- PASS PSTK 118672 broad.mit.edu 37 10 124746901 124746901 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr10:124746901C>A uc001lgy.1 + 6 1369 c.929C>A c.(928-930)GCG>GAG p.A310E NM_153336 NP_699167 Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 310 ATP binding|kinase activity liver(1) 1 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) tgggtaagagcgaaccatgca 0.000 43 17 --- --- --- --- PASS HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C G G rs104894228 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:534286C>G uc001lpv.2 - 2 225 c.37G>C c.(37-39)GGT>CGT p.G13R HRAS_uc010qvw.1_Missense_Mutation_p.G13R|HRAS_uc010qvx.1_Missense_Mutation_p.G13R|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 16 23 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3039644 3039644 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:3039644G>T uc001lxh.2 - 13 1448 c.1374C>A c.(1372-1374)TTC>TTA p.F458L CARS_uc001lxe.2_Missense_Mutation_p.F448L|CARS_uc001lxf.2_Missense_Mutation_p.F541L|CARS_uc001lxg.2_Missense_Mutation_p.F458L|CARS_uc010qxo.1_Missense_Mutation_p.F541L|CARS_uc010qxp.1_Missense_Mutation_p.F471L NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 458 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TCACATTCAAGAACTTCTCAT 0.592 T ALK ALCL 3 19 --- --- --- --- PASS OR51S1 119692 broad.mit.edu 37 11 4869883 4869883 + Missense_Mutation SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:4869883A>T uc010qyo.1 - 1 556 c.556T>A c.(556-558)TAT>AAT p.Y186N NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCAAGCAATAAGAATGGGTT 0.562 71 36 --- --- --- --- PASS PPFIBP2 8495 broad.mit.edu 37 11 7673013 7673013 + Missense_Mutation SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:7673013G>C uc001mfj.3 + 23 2762 c.2374G>C c.(2374-2376)GAG>CAG p.E792Q PPFIBP2_uc010rbb.1_Missense_Mutation_p.E715Q|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.E726Q|PPFIBP2_uc010rbe.1_Missense_Mutation_p.E680Q|PPFIBP2_uc001mfl.3_Missense_Mutation_p.E649Q|PPFIBP2_uc009yfj.1_Missense_Mutation_p.E436Q NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 792 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GGCTGAACAGGAGAAGCGAGA 0.582 60 24 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17518319 17518319 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:17518319C>A uc001mnf.2 - 20 1741 c.1632G>T c.(1630-1632)GAG>GAT p.E544D USH1C_uc001mne.2_Missense_Mutation_p.E844D|USH1C_uc009yhb.2_Missense_Mutation_p.E525D|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.E508D NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 544 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CATCGTCATACTCCTTTGGGG 0.577 42 22 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136333 55136333 + Missense_Mutation SNP C A A rs149238692 byFrequency TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:55136333C>A uc010rif.1 + 1 974 c.974C>A c.(973-975)GCC>GAC p.A325D NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 325 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATGAAAAGTGCCATGAGGAAA 0.373 82 68 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136334 55136334 + Silent SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:55136334C>A uc010rif.1 + 1 975 c.975C>A c.(973-975)GCC>GCA p.A325A NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 325 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGAAAAGTGCCATGAGGAAAC 0.373 81 68 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100933389 100933389 + Silent SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:100933389T>C uc001pgh.2 - 4 2744 c.2001A>G c.(1999-2001)CAA>CAG p.Q667Q PGR_uc001pgg.2_Silent_p.Q48Q|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 667 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GGCTTAGGGCTTGGCTTTCAT 0.438 6 156 --- --- --- --- PASS OR8B3 390271 broad.mit.edu 37 11 124266547 124266547 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:124266547C>A uc010saj.1 - 1 701 c.701G>T c.(700-702)AGA>ATA p.R234I OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGCTTTTGATCTTCCTTGAGT 0.368 67 39 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132180043 132180043 + Silent SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr11:132180043C>A uc001qgp.2 + 5 1363 c.699C>A c.(697-699)GTC>GTA p.V233V NTM_uc001qgm.2_Silent_p.V233V|NTM_uc010sch.1_Silent_p.V224V|NTM_uc010sci.1_Silent_p.V233V|NTM_uc010scj.1_Silent_p.V192V|NTM_uc001qgo.2_Silent_p.V233V|NTM_uc001qgq.2_Silent_p.V233V|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 233 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GTACAGGTGTCCCCGTGGGAC 0.448 94 53 --- --- --- --- PASS CLEC4D 338339 broad.mit.edu 37 12 8673755 8673755 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:8673755G>A uc001qun.2 + 6 729 c.536G>A c.(535-537)GGA>GAA p.G179E NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 179 C-type lectin.|Extracellular (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) AACTCTCAGGGAGAAAACTGT 0.348 30 91 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9307276 9307276 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:9307276G>T uc001qvl.2 - 29 3739 c.3710C>A c.(3709-3711)GCA>GAA p.A1237E PZP_uc009zgl.2_Missense_Mutation_p.A1023E NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AATGTTAGTTGCAGAGGTCAG 0.567 46 59 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20806880 20806880 + Splice_Site SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:20806880G>T uc001reh.1 + 15 2948 c.2926_splice c.e15-1 p.G976_splice NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTTATTTCTAGGGTGATGAAG 0.428 43 68 --- --- --- --- PASS PPFIBP1 8496 broad.mit.edu 37 12 27820098 27820098 + Splice_Site SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:27820098G>T uc001ric.1 + 13 1420 c.1043_splice c.e13-1 p.G348_splice PPFIBP1_uc010sjr.1_Splice_Site_p.G179_splice|PPFIBP1_uc001rib.1_Splice_Site_p.G331_splice|PPFIBP1_uc001ria.2_Splice_Site_p.G317_splice|PPFIBP1_uc001rid.1_Splice_Site_p.G195_splice NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) TCTTTTCCTAGGCAAAGATGG 0.363 39 39 --- --- --- --- PASS COPZ1 22818 broad.mit.edu 37 12 54741805 54741805 + Silent SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:54741805C>A uc001sfs.1 + 7 454 c.417C>A c.(415-417)CCC>CCA p.P139P COPZ1_uc001sft.2_Silent_p.P88P|COPZ1_uc009znm.1_Silent_p.P147P|COPZ1_uc010sot.1_Silent_p.P116P NM_016057 NP_057141 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 139 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol 0 AGAGTGATCCCCAGCAGGTGG 0.527 61 71 --- --- --- --- PASS MMP19 4327 broad.mit.edu 37 12 56232466 56232466 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:56232466G>T uc001sib.2 - 6 940 c.819C>A c.(817-819)CCC>CCA p.P273P MMP19_uc001sia.2_5'UTR|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Silent_p.P191P NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 273 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 GGGGCACAGTGGGCAGCTCTG 0.552 54 31 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57963425 57963425 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:57963425C>T uc001sor.1 + 11 1284 c.1076C>T c.(1075-1077)ACG>ATG p.T359M KIF5A_uc010srr.1_Missense_Mutation_p.T270M NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 359 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 cagaaggagaCGATTGCGAAG 0.413 48 22 --- --- --- --- PASS GRIP1 23426 broad.mit.edu 37 12 66786489 66786489 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:66786489G>T uc001stk.2 - 17 2322 c.2081C>A c.(2080-2082)ACT>AAT p.T694N GRIP1_uc010sta.1_Missense_Mutation_p.T638N|GRIP1_uc001stj.2_Missense_Mutation_p.T476N|GRIP1_uc001stl.1_Missense_Mutation_p.T586N|GRIP1_uc001stm.2_Missense_Mutation_p.T694N NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 746 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CAAGGTGACAGTCTCTCCTGC 0.428 107 57 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88420378 88420378 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:88420378C>A uc001tam.1 - 3 188 c.20G>T c.(19-21)TGC>TTC p.C7F C12orf50_uc001tan.2_Missense_Mutation_p.C61F NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 7 skin(2)|ovary(1) 3 TGAAATGCTGCAGTTTTGCTA 0.368 4 52 --- --- --- --- PASS GPR133 283383 broad.mit.edu 37 12 131488796 131488796 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr12:131488796G>T uc001uit.3 + 11 1769 c.1210G>T c.(1210-1212)GGG>TGG p.G404W GPR133_uc010tbm.1_Missense_Mutation_p.G436W NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 404 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCCGGCCCACGGGCAGAGCTT 0.622 28 15 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48916852 48916852 + Splice_Site SNP T G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr13:48916852T>G uc001vcb.2 + 3 546 c.380_splice c.e3+2 p.S127_splice RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(4) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGAAATCAGGTAAAGTTTCTT 0.343 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 49 26 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103514619 103514619 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr13:103514619G>A uc001vpw.2 + 8 1563 c.1120G>A c.(1120-1122)GCA>ACA p.A374T ERCC5_uc001vpu.1_Missense_Mutation_p.A828T|ERCC5_uc010tjb.1_Missense_Mutation_p.A374T|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A206T NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 374 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGGGAGGAACGCACCTGCTGC 0.522 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 25 56 --- --- --- --- PASS SHC4 399694 broad.mit.edu 37 15 49254968 49254968 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr15:49254968G>A uc001zxb.1 - 1 674 c.245C>T c.(244-246)CCA>CTA p.P82L NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 82 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GGTGCACAGTGGGGTGGGGCT 0.632 25 112 --- --- --- --- PASS ETFA 2108 broad.mit.edu 37 15 76588074 76588074 + Nonsense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr15:76588074G>T uc002bbt.2 - 2 125 c.44C>A c.(43-45)TCA>TAA p.S15* ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Nonsense_Mutation_p.S15* NM_000126 NP_000117 P13804 ETFA_HUMAN electron transfer flavoprotein, alpha 15 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity 0 TCGTAGCAATGAGGCCTAAAA 0.358 48 46 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88472482 88472482 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr15:88472482C>T uc002bme.1 - 16 2235 c.2073G>A c.(2071-2073)CTG>CTA p.L691L NTRK3_uc002bmh.2_Silent_p.L683L|NTRK3_uc002bmf.1_Silent_p.L691L|NTRK3_uc010upl.1_Silent_p.L593L|NTRK3_uc010bnh.1_Silent_p.L683L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 691 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TCTTCACTAGCAGATTCGCTC 0.552 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 102 64 --- --- --- --- PASS ZNF710 374655 broad.mit.edu 37 15 90623046 90623046 + Nonsense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr15:90623046C>A uc002bov.1 + 5 2103 c.1980C>A c.(1978-1980)TAC>TAA p.Y660* NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) AGATGGCCTACTACAATGTGC 0.632 3 99 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101586211 101586211 + Missense_Mutation SNP T G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr15:101586211T>G uc002bwr.2 + 21 3308 c.2989T>G c.(2989-2991)TCT>GCT p.S997A LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 997 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCTCCTTCCATCTAAACCTGG 0.587 47 223 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 712030 712030 + Missense_Mutation SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:712030T>C uc002cii.1 + 32 4058 c.4004T>C c.(4003-4005)TTG>TCG p.L1335S WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.L862S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.L509S|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1335 WD 16. ovary(1) 1 Hepatocellular(780;0.0218) CGCTGCTTCTTGTCCTGGGAG 0.662 24 43 --- --- --- --- PASS FAM86A 196483 broad.mit.edu 37 16 5141863 5141863 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:5141863G>T uc002cyo.2 - 4 323 c.274C>A c.(274-276)CTG>ATG p.L92M FAM86A_uc002cyp.2_Intron NM_201400 NP_958802 Q96G04 FA86A_HUMAN hypothetical protein LOC196483 isoform 1 92 0 GCTTCATACAGCTCGTCCAAA 0.527 7 112 --- --- --- --- PASS C16orf82 162083 broad.mit.edu 37 16 27078353 27078353 + Missense_Mutation SNP G C C rs143151440 by1000genomes TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:27078353G>C uc010vcm.1 + 1 135 c.37G>C c.(37-39)GAG>CAG p.E13Q NM_001145545 NP_001139017 Q7Z2V1 TNT_HUMAN hypothetical protein LOC162083 76 0 CATTTTTCTCGAGGGAGAAAA 0.592 25 27 --- --- --- --- PASS C16orf54 283897 broad.mit.edu 37 16 29755978 29755978 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:29755978C>G uc002dtp.2 - 2 404 c.295G>C c.(295-297)GCG>CCG p.A99P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank NM_175900 NP_787096 Q6UWD8 CP054_HUMAN hypothetical protein LOC283897 99 integral to membrane 0 AGGGGGACCGCAGAGCCATAC 0.682 3 4 --- --- --- --- PASS ZNF48 197407 broad.mit.edu 37 16 30409782 30409782 + Missense_Mutation SNP C T T rs144019727 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:30409782C>T uc002dya.1 + 2 1270 c.1211C>T c.(1210-1212)CCT>CTT p.P404L ZNF48_uc002dxz.1_Missense_Mutation_p.P281L NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 404 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCACCCCCACCTCCTCTGGGC 0.667 12 40 --- --- --- --- PASS CDH15 1013 broad.mit.edu 37 16 89256738 89256738 + Missense_Mutation SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:89256738G>C uc002fmt.2 + 8 1143 c.1066G>C c.(1066-1068)GAG>CAG p.E356Q NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 356 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCTTAGGGCTGAGCGGGGCCA 0.637 10 26 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C T T rs28934575 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 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) 32 25 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr17:33520323C>T uc002hjd.2 - 1 1090 c.1004G>A c.(1003-1005)AGG>AAG p.R335K NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 335 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CTCCTCCACCCTCCCTGTCCT 0.557 4 72 --- --- --- --- PASS CYB561 1534 broad.mit.edu 37 17 61513431 61513431 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr17:61513431G>A uc002jap.2 - 2 687 c.285C>T c.(283-285)CTC>CTT p.L95L CYB561_uc002jaq.2_Silent_p.L141L|CYB561_uc002jar.2_Silent_p.L95L|CYB561_uc002jas.2_Silent_p.L95L|CYB561_uc010ddt.2_Silent_p.L95L|CYB561_uc002jat.2_Silent_p.L95L|CYB561_uc010wpf.1_Silent_p.L95L|CYB561_uc010wpg.1_Silent_p.L66L NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 95 Helical; (Potential).|Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) GGGCGATGACGAGCGCAAAGA 0.617 68 15 --- --- --- --- PASS CD300LB 124599 broad.mit.edu 37 17 72522134 72522134 + Silent SNP T A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr17:72522134T>A uc002jkx.2 - 2 247 c.234A>T c.(232-234)GGA>GGT p.G78G CD300LB_uc010wqz.1_Silent_p.G78G NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 41 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 AGGTCTCCCATCCTTGCTTAT 0.547 268 204 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50683760 50683760 + Silent SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr18:50683760C>A uc002lfe.1 + 8 1883 c.1296C>A c.(1294-1296)CCC>CCA p.P432P DCC_uc010xdr.1_Silent_p.P280P|DCC_uc010dpf.1_Silent_p.P87P NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 432 Extracellular (Potential).|Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTTCGGCTCCCAGAGATGTGG 0.532 116 60 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72343085 72343085 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr18:72343085C>T uc002llw.2 + 1 167 c.110C>T c.(109-111)TCT>TTT p.S37F ZNF407_uc010xfc.1_Missense_Mutation_p.S37F|ZNF407_uc010dqu.1_Missense_Mutation_p.S37F|ZNF407_uc002llu.2_Missense_Mutation_p.S36F NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGGCCTGTATCTGATGTGATA 0.378 13 33 --- --- --- --- PASS MED16 10025 broad.mit.edu 37 19 875420 875420 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:875420G>A uc002lqd.1 - 10 1746 c.1595C>T c.(1594-1596)TCG>TTG p.S532L MED16_uc010drw.1_Missense_Mutation_p.S357L|MED16_uc002lqe.2_Missense_Mutation_p.S521L|MED16_uc002lqf.2_Missense_Mutation_p.S521L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S452L|MED16_uc010xfx.1_Missense_Mutation_p.S377L|MED16_uc010xfy.1_Intron|MED16_uc010xfz.1_5'Flank NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 532 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGCAGAGCGAGGCCTTCAT 0.667 3 54 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8996458 8996458 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:8996458G>T uc002mkp.2 - 61 41318 c.41114C>A c.(41113-41115)GCC>GAC p.A13705D MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A522D|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGCAGATGGCATCCACTCC 0.552 9 73 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8996459 8996459 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:8996459C>T uc002mkp.2 - 61 41317 c.41113G>A c.(41113-41115)GCC>ACC p.A13705T MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A522T|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGCAGATGGCATCCACTCCA 0.547 37 57 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9062192 9062192 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:9062192C>T uc002mkp.2 - 3 25458 c.25254G>A c.(25252-25254)TTG>TTA p.L8418L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8420 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGTCTCCCTCAATCCAGAAG 0.522 29 137 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10088094 10088094 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:10088094C>T uc002mmq.1 - 43 3267 c.3181G>A c.(3181-3183)GGG>AGG p.G1061R NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1061 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCCAGAGGCCCCAGGGGCCCT 0.652 28 228 --- --- --- --- PASS KANK2 25959 broad.mit.edu 37 19 11304017 11304017 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:11304017C>T uc010dxv.2 - 6 1297 c.739G>A c.(739-741)GAG>AAG p.E247K KANK2_uc002mqm.2_Missense_Mutation_p.E247K|KANK2_uc002mqo.3_Missense_Mutation_p.E247K|KANK2_uc002mqp.1_Missense_Mutation_p.E56K|KANK2_uc002mqq.2_Missense_Mutation_p.E247K NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 247 0 AGGCAGAGCTCGCTGCGACCC 0.647 34 43 --- --- --- --- PASS ZNF439 90594 broad.mit.edu 37 19 11978607 11978607 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:11978607G>A uc002mss.2 + 3 851 c.723G>A c.(721-723)CCG>CCA p.P241P ZNF439_uc002msr.2_Silent_p.P105P NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GAGAGAAACCGTATGAATGTA 0.363 97 107 --- --- --- --- PASS CCDC105 126402 broad.mit.edu 37 19 15131373 15131373 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:15131373C>T uc002nae.2 + 3 875 c.776C>T c.(775-777)GCC>GTC p.A259V NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 259 microtubule cytoskeleton organization microtubule ovary(1) 1 CTGGAGCAGGCCAGACGCCAC 0.612 24 37 --- --- --- --- PASS FAM129C 199786 broad.mit.edu 37 19 17644478 17644478 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:17644478G>T uc010xpr.1 + 5 626 c.488G>T c.(487-489)CGC>CTC p.R163L FAM129C_uc010xpq.1_Missense_Mutation_p.R163L|FAM129C_uc010xps.1_Missense_Mutation_p.R132L|FAM129C_uc010xpt.1_RNA NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 163 0 GAATATCTCCGCCTTTTGGAT 0.438 37 86 --- --- --- --- PASS ZNF708 7562 broad.mit.edu 37 19 21476637 21476637 + Silent SNP T A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:21476637T>A uc002npq.1 - 4 1329 c.1131A>T c.(1129-1131)TCA>TCT p.S377S ZNF708_uc002npr.1_Silent_p.S313S|ZNF708_uc010ecs.1_Silent_p.S313S NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 377 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 TAGTAAGGTGTGAGGACCGGT 0.353 44 109 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363358 22363358 + Silent SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:22363358A>G uc002nqs.1 - 3 1479 c.1161T>C c.(1159-1161)CAT>CAC p.H387H NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 387 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTCTTCAGCATGAATTGCCT 0.398 71 112 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22364229 22364229 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:22364229C>A uc002nqs.1 - 3 608 c.290G>T c.(289-291)GGT>GTT p.G97V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTTATTATAACCTTCTTTGTG 0.308 65 138 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36351849 36351849 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:36351849G>A uc002ocb.3 + 8 1179 c.967G>A c.(967-969)GTG>ATG p.V323M KIRREL2_uc002obz.3_Missense_Mutation_p.V323M|KIRREL2_uc002oca.3_Missense_Mutation_p.V273M|KIRREL2_uc002occ.3_Missense_Mutation_p.V270M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V320M NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 323 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCCGTGTCCGTGGACGTGGG 0.667 17 48 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38591796 38591796 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:38591796C>T uc002ohk.2 + 6 2468 c.1959C>T c.(1957-1959)TTC>TTT p.F653F NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 653 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TTGAGGAGTTCCTCTCCCTCA 0.478 5 9 --- --- --- --- PASS CYP2A6 1548 broad.mit.edu 37 19 41351257 41351257 + Missense_Mutation SNP A G G rs144689858 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:41351257A>G uc002opl.3 - 7 1124 c.1103T>C c.(1102-1104)ATG>ACG p.M368T CYP2A6_uc010ehe.1_Missense_Mutation_p.M164T NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 368 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGCCAAACTCATGGGGATCAC 0.567 6 244 --- --- --- --- PASS AXL 558 broad.mit.edu 37 19 41726677 41726677 + Silent SNP G A A rs55690306 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:41726677G>A uc010ehj.2 + 2 412 c.222G>A c.(220-222)CAG>CAA p.Q74Q CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.Q74Q|AXL_uc010ehk.2_Silent_p.Q74Q NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 74 Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 GGGATGGACAGATCCTGGAGC 0.622 22 69 --- --- --- --- PASS MIR517C 574492 broad.mit.edu 37 19 54244601 54244601 + RNA SNP A C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:54244601A>C hsa-mir-517c|MI0003174 + c.35A>C MIR520H_hsa-mir-520h|MI0003175_5'Flank|uc010yeb.1_5'Flank 0 AGATGGAAGCACTGTCTGTTG 0.333 24 55 --- --- --- --- PASS MIR517C 574492 broad.mit.edu 37 19 54244630 54244630 + RNA SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:54244630A>T hsa-mir-517c|MI0003174 + c.64A>T MIR520H_hsa-mir-520h|MI0003175_5'Flank|uc010yeb.1_5'Flank 0 AAGATCGTGCATCCTTTTAGA 0.403 24 36 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56539488 56539488 + Nonsense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr19:56539488C>A uc002qmj.2 + 7 1889 c.1889C>A c.(1888-1890)TCG>TAG p.S630* NLRP5_uc002qmi.2_Nonsense_Mutation_p.S611* NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 630 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CATATCCACTCGCTTTGGATG 0.562 47 34 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3670823 3670823 + Silent SNP C T T rs145129138 by1000genomes TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:3670823C>T uc002wja.2 - 18 4680 c.4680G>A c.(4678-4680)CCG>CCA p.P1560P SIGLEC1_uc002wjb.1_Silent_p.P199P|SIGLEC1_uc002wiz.3_Silent_p.P1560P NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1560 Ig-like C2-type 16.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GGCTGGCGAGCGGCTCGCTGT 0.657 4 4 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36854088 36854088 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:36854088G>T uc002xhy.1 - 8 2420 c.2148C>A c.(2146-2148)ACC>ACA p.T716T KIAA1755_uc002xhx.1_5'Flank|KIAA1755_uc002xhz.1_Silent_p.T716T NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 716 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GAACCCACTCGGTGTGGCAGT 0.582 27 39 --- --- --- --- PASS SEMG2 6407 broad.mit.edu 37 20 43851856 43851856 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:43851856G>T uc010ggz.2 + 2 1640 c.1583G>T c.(1582-1584)GGT>GTT p.G528V SEMG2_uc002xnk.2_Missense_Mutation_p.G528V|SEMG2_uc002xnl.2_Missense_Mutation_p.G408V NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 528 Repeat-rich region.|3-2. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) GGAAAGTCTGGTCAATCTGCA 0.383 35 46 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51872569 51872569 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:51872569G>T uc002xwo.2 + 2 3528 c.2572G>T c.(2572-2574)GCC>TCC p.A858S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 858 Homeobox; atypical. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GATTCTACAAGCCCAGTTTGC 0.493 38 72 --- --- --- --- PASS DOK5 55816 broad.mit.edu 37 20 53205081 53205081 + Silent SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:53205081T>C uc002xwy.2 + 3 454 c.234T>C c.(232-234)CAT>CAC p.H78H DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 78 PH. insulin receptor binding ovary(1) 1 Colorectal(105;0.202) CCAAGAAACATGCCATAGGGA 0.418 10 252 --- --- --- --- PASS MIR1-1 406904 broad.mit.edu 37 20 61151580 61151580 + RNA SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:61151580C>T hsa-mir-1-1|MI0000651 + c.68C>T C20orf200_uc002ycy.2_5'Flank|C20orf200_uc002ycz.1_5'Flank|C20orf166_uc011aaj.1_Intron|uc011aak.1_RNA 0 AAGTATGTATCTCAGGCCGGG 0.602 65 119 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62038507 62038507 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:62038507C>T uc002yey.1 - 17 2286 c.2109G>A c.(2107-2109)GCG>GCA p.A703A KCNQ2_uc002yez.1_Silent_p.A672A|KCNQ2_uc002yfa.1_Silent_p.A685A|KCNQ2_uc002yfb.1_Silent_p.A675A NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 703 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) cggccgggggcgccgAGAAGT 0.602 3 4 --- --- --- --- PASS KRTAP21-1 337977 broad.mit.edu 37 21 32127623 32127623 + Missense_Mutation SNP C G G rs147233060 byFrequency TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr21:32127623C>G uc011adi.1 - 1 74 c.74G>C c.(73-75)GGC>GCC p.G25A NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 25 intermediate filament breast(1) 1 acagccacagccagagccaga 0.119 49 63 --- --- --- --- PASS BACE2 25825 broad.mit.edu 37 21 42613849 42613849 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr21:42613849G>T uc002yyw.2 + 4 1185 c.722G>T c.(721-723)GGA>GTA p.G241V BACE2_uc002yyx.2_Missense_Mutation_p.G241V|BACE2_uc002yyy.2_Missense_Mutation_p.G241V NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 isoform A 241 Extracellular (Potential). membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CCCGTTGCTGGATCTGGGACC 0.478 172 254 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34046524 34046524 + Silent SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr22:34046524G>A uc003and.3 - 4 816 c.237C>T c.(235-237)CTC>CTT p.L79L LARGE_uc003ane.3_Silent_p.L79L|LARGE_uc010gwp.2_Silent_p.L79L|LARGE_uc011ame.1_Silent_p.L11L|LARGE_uc011amf.1_Silent_p.L79L NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 79 Lumenal (Potential).|Potential. glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GCTGCCTGCGGAGGGCGCGGT 0.692 65 113 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38121247 38121247 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr22:38121247C>T uc003atr.2 + 7 2955 c.2684C>T c.(2683-2685)TCA>TTA p.S895L TRIOBP_uc003atu.2_Missense_Mutation_p.S723L|TRIOBP_uc003atq.1_Missense_Mutation_p.S895L|TRIOBP_uc003ats.1_Missense_Mutation_p.S723L NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 895 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCCAGGAATTCATCTCCCCAT 0.547 133 344 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40816474 40816474 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr22:40816474G>A uc003ayv.1 - 8 1195 c.988C>T c.(988-990)CGT>TGT p.R330C MKL1_uc003ayw.1_Missense_Mutation_p.R330C|MKL1_uc010gye.1_Missense_Mutation_p.R330C|MKL1_uc010gyf.1_Missense_Mutation_p.R280C NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 330 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CTGTTCTGACGTGCCAGCCCA 0.657 T RBM15 acute megakaryocytic leukemia 117 84 --- --- --- --- PASS TTLL12 23170 broad.mit.edu 37 22 43564146 43564146 + Silent SNP C T T rs142420296 by1000genomes TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr22:43564146C>T uc003bdq.2 - 14 1835 c.1803G>A c.(1801-1803)CCG>CCA p.P601P TTLL12_uc003bdp.2_3'UTR|TTLL12_uc003bdr.1_Silent_p.P601P NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 601 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) CCAGGATCTGCGGCTGCATCA 0.597 51 83 --- --- --- --- PASS CLCN4 1183 broad.mit.edu 37 X 10163115 10163115 + Nonsense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:10163115G>T uc004csy.3 + 5 839 c.409G>T c.(409-411)GAG>TAG p.E137* CLCN4_uc011mid.1_Nonsense_Mutation_p.E43* NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 137 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GAAATGGTCGGAGCTGCTGGT 0.557 23 123 --- --- --- --- PASS TLR7 51284 broad.mit.edu 37 X 12906213 12906213 + Silent SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:12906213C>G uc004cvc.2 + 3 2725 c.2586C>G c.(2584-2586)CTC>CTG p.L862L NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 862 Cytoplasmic (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) CAAGTCACCTCTATTTCTGGG 0.398 69 264 --- --- --- --- PASS ATXN3L 92552 broad.mit.edu 37 X 13337087 13337087 + Missense_Mutation SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:13337087T>C uc010ned.2 - 1 1432 c.967A>G c.(967-969)AGT>GGT p.S323G NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 323 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 CTGAGATCACTCTCAATTGCT 0.448 51 198 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37984550 37984550 + Splice_Site SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:37984550G>T uc004ddu.2 + 17 2376 c.1842_splice c.e17-1 p.G614_splice SYTL5_uc004ddv.2_Splice_Site_p.G614_splice|SYTL5_uc004ddx.2_Splice_Site_p.G636_splice NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 TTCTCATGCAGCTACCTGCTC 0.408 25 24 --- --- --- --- PASS GPR82 27197 broad.mit.edu 37 X 41586456 41586456 + Silent SNP T C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:41586456T>C uc004dfs.1 + 3 417 c.177T>C c.(175-177)ACT>ACC p.T59T CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Silent_p.T59T|GPR82_uc004dfu.1_RNA NM_080817 NP_543007 Q96P67 GPR82_HUMAN G protein-coupled receptor 82 59 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 ACCTTGTGACTGCAAACTTAC 0.378 27 118 --- --- --- --- PASS GPR82 27197 broad.mit.edu 37 X 41586457 41586457 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:41586457G>T uc004dfs.1 + 3 418 c.178G>T c.(178-180)GCA>TCA p.A60S CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.A60S|GPR82_uc004dfu.1_RNA NM_080817 NP_543007 Q96P67 GPR82_HUMAN G protein-coupled receptor 82 60 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CCTTGTGACTGCAAACTTACT 0.373 25 121 --- --- --- --- PASS TIMM17B 10245 broad.mit.edu 37 X 48752384 48752384 + Missense_Mutation SNP C G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:48752384C>G uc004dlc.1 - 4 276 c.127G>C c.(127-129)GGA>CGA p.G43R PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|TIMM17B_uc004dla.1_Missense_Mutation_p.G93R|TIMM17B_uc004dlb.1_Missense_Mutation_p.G63R NM_005834 NP_005825 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 43 protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 TGCCGAATTCCCTGGGGAAAG 0.542 4 24 --- --- --- --- PASS WDR45 11152 broad.mit.edu 37 X 48935748 48935748 + Nonsense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:48935748G>A uc004dmk.1 - 2 179 c.7C>T c.(7-9)CAA>TAA p.Q3* PRAF2_uc011mmt.1_Nonsense_Mutation_p.Q3*|WDR45_uc004dmj.1_5'Flank|WDR45_uc004dml.1_Nonsense_Mutation_p.Q3*|WDR45_uc004dmm.1_Nonsense_Mutation_p.Q3*|WDR45_uc010nim.1_Nonsense_Mutation_p.Q3*|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmo.1_Nonsense_Mutation_p.Q25*|WDR45_uc004dmp.1_Nonsense_Mutation_p.Q3*|WDR45_uc011mmu.1_Nonsense_Mutation_p.Q3* NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 3 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 AGTGGCTGTTGAGTCATGGTG 0.517 13 47 --- --- --- --- PASS PPP1R3F 89801 broad.mit.edu 37 X 49143513 49143513 + Silent SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:49143513G>T uc004dnh.1 + 4 2377 c.2361G>T c.(2359-2361)CTG>CTT p.L787L PPP1R3F_uc011mnd.1_Silent_p.L458L|PPP1R3F_uc004dni.2_Silent_p.L441L|PPP1R3F_uc004dnj.1_Silent_p.L441L NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 787 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) TGTCCCTCCTGGTGCTTGCGC 0.622 18 69 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50053232 50053232 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:50053232C>A uc004dox.3 + 6 2361 c.2063C>A c.(2062-2064)TCC>TAC p.S688Y CCNB3_uc004doy.2_Missense_Mutation_p.S688Y|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 688 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AAAAGTGGGTCCCTCTTCCAG 0.453 12 25 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50053233 50053233 + Silent SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:50053233C>A uc004dox.3 + 6 2362 c.2064C>A c.(2062-2064)TCC>TCA p.S688S CCNB3_uc004doy.2_Silent_p.S688S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 688 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AAAGTGGGTCCCTCTTCCAGG 0.458 12 25 --- --- --- --- PASS PHF8 23133 broad.mit.edu 37 X 54022203 54022203 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:54022203G>A uc004dsu.2 - 12 1427 c.1354C>T c.(1354-1356)CAT>TAT p.H452Y PHF8_uc004dst.2_Missense_Mutation_p.H416Y|PHF8_uc004dsv.2_Missense_Mutation_p.H282Y|PHF8_uc004dsw.2_Missense_Mutation_p.H416Y|PHF8_uc004dsx.2_Missense_Mutation_p.H180Y|PHF8_uc004dsy.2_Missense_Mutation_p.H416Y NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 452 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 TCATCCTCATGGTCTGGCAGA 0.368 6 30 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65414988 65414988 + Missense_Mutation SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:65414988A>G uc011moz.1 + 9 1487 c.1427A>G c.(1426-1428)TAC>TGC p.Y476C HEPH_uc004dwn.2_Missense_Mutation_p.Y476C|HEPH_uc004dwo.2_Missense_Mutation_p.Y206C|HEPH_uc010nkr.2_Missense_Mutation_p.Y476C|HEPH_uc011mpa.1_Missense_Mutation_p.Y476C NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 473 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GTGGTCTTCTACAACCGTGCC 0.507 35 31 --- --- --- --- PASS NLGN3 54413 broad.mit.edu 37 X 70386935 70386935 + Missense_Mutation SNP T G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:70386935T>G uc004dzd.1 + 6 1188 c.988T>G c.(988-990)TAC>GAC p.Y330D NLGN3_uc010nlb.1_Missense_Mutation_p.Y290D|NLGN3_uc004dzb.2_Missense_Mutation_p.Y310D|NLGN3_uc004dzc.2_Missense_Mutation_p.Y193D|NLGN3_uc011mps.1_Missense_Mutation_p.Y290D|NLGN3_uc004dze.2_Missense_Mutation_p.Y128D NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 330 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) ACCAGTGAAGTACACCAGCCT 0.537 15 38 --- --- --- --- PASS CXCR3 2833 broad.mit.edu 37 X 70836522 70836522 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:70836522C>A uc004eaf.2 - 2 868 c.800G>T c.(799-801)TGC>TTC p.C267F BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.C314F NM_001504 NP_001495 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 isoform A 267 Helical; Name=6; (Potential). cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity ovary(2)|central_nervous_system(1) 3 Renal(35;0.156) GGGGGTCCAGCAGAGGGCAAA 0.662 9 28 --- --- --- --- PASS ZCCHC13 389874 broad.mit.edu 37 X 73524598 73524598 + Missense_Mutation SNP A T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:73524598A>T uc004ebs.3 + 1 574 c.497A>T c.(496-498)CAG>CTG p.Q166L NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 166 nucleic acid binding|zinc ion binding 0 GGAATGTCCCAGTGAGGTTAC 0.517 13 69 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75003752 75003752 + Missense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:75003752G>T uc004ecj.1 - 1 1320 c.1135C>A c.(1135-1137)CTC>ATC p.L379I NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 379 MAGE 2. ovary(1)|skin(1) 2 TGGACAAGGAGGTAGATGTGC 0.438 87 91 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75003753 75003753 + Nonsense_Mutation SNP G T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:75003753G>T uc004ecj.1 - 1 1319 c.1134C>A c.(1132-1134)TAC>TAA p.Y378* NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 378 MAGE 2. ovary(1)|skin(1) 2 GGACAAGGAGGTAGATGTGCT 0.438 87 90 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75648895 75648895 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:75648895C>A uc004ecm.1 + 1 779 c.572C>A c.(571-573)ACC>AAC p.T191N NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 191 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GTGGTGCCCACCCCTGATGAG 0.692 9 37 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216995 78216995 + Silent SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:78216995C>T uc004ede.2 + 4 1347 c.978C>T c.(976-978)TCC>TCT p.S326S P2RY10_uc004edf.2_Silent_p.S326S NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 326 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TGACCCGCTCCCGCCTCATGA 0.428 99 101 --- --- --- --- PASS CHM 1121 broad.mit.edu 37 X 85218964 85218964 + Silent SNP A G G TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:85218964A>G uc004eet.2 - 5 438 c.408T>C c.(406-408)TCT>TCC p.S136S CHM_uc011mqz.1_5'UTR NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 136 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) GCAGGAAGGCAGAATCTGCAG 0.453 28 103 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 85994853 85994853 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:85994853C>T uc004eew.2 + 7 1378 c.1208C>T c.(1207-1209)CCC>CTC p.P403L DACH2_uc004eex.2_Missense_Mutation_p.P390L|DACH2_uc010nmq.2_Missense_Mutation_p.P269L|DACH2_uc011mra.1_Missense_Mutation_p.P236L|DACH2_uc010nmr.2_Missense_Mutation_p.P184L|DACH2_uc004eey.2_Missense_Mutation_p.P86L|DACH2_uc004eez.2_Missense_Mutation_p.P86L NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 TCCAGCTCTCCCTCTCAGATG 0.453 8 29 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 86067939 86067939 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:86067939G>A uc004eew.2 + 8 1491 c.1321G>A c.(1321-1323)GGA>AGA p.G441R DACH2_uc004eex.2_Missense_Mutation_p.G428R|DACH2_uc010nmq.2_Missense_Mutation_p.G307R|DACH2_uc011mra.1_Missense_Mutation_p.G274R|DACH2_uc010nmr.2_Missense_Mutation_p.G222R|DACH2_uc004eey.2_Missense_Mutation_p.G124R|DACH2_uc004eez.2_Missense_Mutation_p.G124R NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ATTGCCCGCTGGATTCCCTGG 0.413 31 21 --- --- --- --- PASS RNF113A 7737 broad.mit.edu 37 X 119005420 119005420 + Missense_Mutation SNP C T T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:119005420C>T uc004esb.2 - 1 372 c.157G>A c.(157-159)GTG>ATG p.V53M NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 53 nucleic acid binding|zinc ion binding breast(2) 2 GGTCGAACCACAGTGCAGCCT 0.602 69 231 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123556176 123556176 + Missense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:123556176C>A uc004euj.2 - 23 4460 c.4396G>T c.(4396-4398)GGT>TGT p.G1466C ODZ1_uc011muj.1_Missense_Mutation_p.G1472C|ODZ1_uc010nqy.2_Missense_Mutation_p.G1473C NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1466 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTGGGGGCACCAGCGATGATG 0.473 37 145 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128649954 128649954 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:128649954G>A uc004eun.3 - 4 559 c.446C>T c.(445-447)ACA>ATA p.T149I SMARCA1_uc004eup.3_Missense_Mutation_p.T149I|SMARCA1_uc011muk.1_Missense_Mutation_p.T149I|SMARCA1_uc011mul.1_Missense_Mutation_p.T149I NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 149 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TTCTTGCTCTGTGCGCCTATG 0.373 118 74 --- --- --- --- PASS MST4 51765 broad.mit.edu 37 X 131188764 131188764 + Missense_Mutation SNP G A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:131188764G>A uc004ewk.1 + 3 449 c.148G>A c.(148-150)GTT>ATT p.V50I MST4_uc004ewl.1_Intron|MST4_uc011mux.1_Missense_Mutation_p.V50I|MST4_uc010nrj.1_Missense_Mutation_p.V50I|MST4_uc004ewm.1_Missense_Mutation_p.V50I NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 50 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) CCAGCAAGTCGTTGCTATTAA 0.398 25 109 --- --- --- --- PASS GPC3 2719 broad.mit.edu 37 X 132887631 132887631 + Nonsense_Mutation SNP C A A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:132887631C>A uc004exe.1 - 3 1100 c.910G>T c.(910-912)GAA>TAA p.E304* GPC3_uc004exd.1_Nonsense_Mutation_p.E176*|GPC3_uc010nrn.1_Nonsense_Mutation_p.E304*|GPC3_uc011mvh.1_Nonsense_Mutation_p.E288*|GPC3_uc010nro.1_Nonsense_Mutation_p.E250*|GPC3_uc010nrp.1_Nonsense_Mutation_p.E176* NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 304 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) ACAAGTTCTTCAAGGGACAGA 0.443 T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 48 181 --- --- --- --- PASS FHL1 2273 broad.mit.edu 37 X 135290627 135290627 + Missense_Mutation SNP G C C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:135290627G>C uc004ezo.2 + 5 615 c.515G>C c.(514-516)GGA>GCA p.G172A FHL1_uc010nrz.2_Missense_Mutation_p.G172A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.G172A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Missense_Mutation_p.G172A|FHL1_uc011mvz.1_Missense_Mutation_p.G172A|FHL1_uc004ezn.2_Missense_Mutation_p.G172A|FHL1_uc011mwa.1_Missense_Mutation_p.G201A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.G188A|FHL1_uc004ezr.2_5'UTR NM_001159702 NP_001153174 Q13642 FHL1_HUMAN four and a half LIM domains 1 isoform 1 172 LIM zinc-binding 3. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) ATCACATCTGGAGGAATCACT 0.408 137 147 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144905394 144905394 + Missense_Mutation SNP G T T rs141011265 TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chrX:144905394G>T uc004fcd.2 + 5 2441 c.1451G>T c.(1450-1452)CGG>CTG p.R484L SLITRK2_uc010nsp.2_Missense_Mutation_p.R484L|SLITRK2_uc010nso.2_Missense_Mutation_p.R484L|SLITRK2_uc011mwq.1_Missense_Mutation_p.R484L|SLITRK2_uc011mwr.1_Missense_Mutation_p.R484L|SLITRK2_uc011mws.1_Missense_Mutation_p.R484L|SLITRK2_uc004fcg.2_Missense_Mutation_p.R484L|SLITRK2_uc011mwt.1_Missense_Mutation_p.R484L NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 484 Extracellular (Potential).|LRR 11. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AACCTTCTTCGGTCCTTACCT 0.418 170 178 --- --- --- --- PASS OTOL1 131149 broad.mit.edu 37 3 161221119 161221119 + Frame_Shift_Del DEL G - - TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr3:161221119delG uc011bpb.1 + 4 823 c.823delG c.(823-825)GGCfs p.G275fs NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 275 collagen 0 TGGAATGGAAGGCAAAAGCGG 0.527 20 20 --- --- --- --- PCDHA11 56138 broad.mit.edu 37 5 140250029 140250029 + Frame_Shift_Del DEL G - - TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr5:140250029delG uc003lia.2 + 1 2199 c.1341delG c.(1339-1341)GTGfs p.V447fs PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Frame_Shift_Del_p.V447fs NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 447 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCGACGTGAACGACAATG 0.637 61 137 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7581127 7581142 + Frame_Shift_Del DEL GCAGAAGCAGAAGGTG - - TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr6:7581127_7581142delGCAGAAGCAGAAGGTG uc003mxp.1 + 23 4983_4998 c.4704_4719delGCAGAAGCAGAAGGTG c.(4702-4719)CTGCAGAAGCAGAAGGTGfs p.L1568fs DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1568_1573 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGC 0.551 34 47 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61689381 61689381 + Frame_Shift_Del DEL C - - TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:61689381delC uc002eog.1 - 11 2151 c.1899delG c.(1897-1899)TTGfs p.L633fs NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 633 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TACCTAACAGCAAAATGATGC 0.428 26 53 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991632 72991636 + Frame_Shift_Del DEL GCCAG - - TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr16:72991632_72991636delGCCAG uc002fck.2 - 2 3082_3086 c.2409_2413delCTGGC c.(2407-2415)ACCTGGCGGfs p.T803fs ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 803_805 C2H2-type 5; atypical. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ACCTCGCACCGCCAGGTGGGTTTGG 0.439 53 54 --- --- --- --- C20orf111 51526 broad.mit.edu 37 20 42831626 42831626 + Frame_Shift_Del DEL A - - TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4c3840df-9824-40db-879e-6d24adc8c155 332ac9eb-64c2-474d-b772-07e504f3655d g.chr20:42831626delA uc002xlk.2 - 3 303 c.166delT c.(166-168)TGTfs p.C56fs NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 56 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) TTAGATGCACATGTGGTTTTA 0.408 60 37 --- --- --- ---