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 PRAMEF1 65121 broad.mit.edu 37 1 12853573 12853573 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:12853573T>A uc001auj.1 + 2 300 c.197T>A c.(196-198)CTG>CAG p.L66Q NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 66 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTCCCTCTGGGATCACTG 0.542 11 209 --- --- --- --- PASS UROD 7389 broad.mit.edu 37 1 45479354 45479354 + Missense_Mutation SNP G A A rs111369324 byFrequency TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:45479354G>A uc001cna.1 + 5 473 c.365G>A c.(364-366)CGG>CAG p.R122Q HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc010oli.1_3'UTR|UROD_uc001cnb.1_Missense_Mutation_p.R87Q|UROD_uc010olj.1_Missense_Mutation_p.R66Q|UROD_uc001cnc.1_Missense_Mutation_p.R27Q NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 122 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) GAACGCCTACGGGATCCAGAA 0.577 Porphyria_Cutanea_Tarda_Type_II 7 83 --- --- --- --- PASS UBE2U 148581 broad.mit.edu 37 1 64669744 64669744 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:64669744G>A uc001dbn.1 + 1 255 c.11G>A c.(10-12)AGA>AAA p.R4K NM_152489 NP_689702 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 4 ATP binding|protein binding|ubiquitin-protein ligase activity 0 ATGCACGGCAGAGCTTACCTC 0.473 43 63 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70587550 70587550 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:70587550C>G uc001dep.2 + 25 4624 c.4594C>G c.(4594-4596)CAA>GAA p.Q1532E LRRC7_uc009wbg.2_Missense_Mutation_p.Q816E|LRRC7_uc001deq.2_Missense_Mutation_p.Q726E NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1532 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCTAGTTATTCAACGTGAGCT 0.313 25 164 --- --- --- --- PASS MAGI3 260425 broad.mit.edu 37 1 114184638 114184638 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:114184638C>T uc001edk.2 + 10 1647 c.1466C>T c.(1465-1467)ACT>ATT p.T489I MAGI3_uc001edh.3_Missense_Mutation_p.T514I|MAGI3_uc001edi.3_Missense_Mutation_p.T489I|MAGI3_uc010owm.1_Missense_Mutation_p.T514I|MAGI3_uc001edj.2_Missense_Mutation_p.T210I NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 514 Interaction with PTEN.|PDZ 2. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTAAACCTCACTTTATGTCGT 0.438 7 159 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145473733 145473733 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:145473733G>C uc001enq.1 + 4 1698 c.405G>C c.(403-405)AAG>AAC p.K135N NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 135 ANK 4. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACGCCTGCAAGGCCAAGGGTA 0.647 53 34 --- --- --- --- PASS FAM63A 55793 broad.mit.edu 37 1 150970185 150970185 + Missense_Mutation SNP A T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:150970185A>T uc001ewf.2 - 10 2928 c.1244T>A c.(1243-1245)CTG>CAG p.L415Q FAM63A_uc001ewc.2_Missense_Mutation_p.L273Q|FAM63A_uc010pcm.1_Missense_Mutation_p.L320Q|FAM63A_uc001ewd.2_Missense_Mutation_p.L273Q|FAM63A_uc001ewe.2_Missense_Mutation_p.L249Q|FAM63A_uc010pcn.1_Missense_Mutation_p.L463Q|FAM63A_uc001ewg.2_Missense_Mutation_p.L415Q NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 415 Gln-rich. protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGCTGGGCCAGCTCCAAGTC 0.632 32 32 --- --- --- --- PASS GBA 2629 broad.mit.edu 37 1 155206051 155206051 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:155206051G>C uc001fjh.2 - 8 1359 c.1209C>G c.(1207-1209)AGC>AGG p.S403R RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.S290R|GBA_uc010pfx.1_Missense_Mutation_p.S354R|GBA_uc001fji.2_Missense_Mutation_p.S403R|GBA_uc001fjj.2_Missense_Mutation_p.S403R|GBA_uc001fjk.2_Missense_Mutation_p.S403R|GBA_uc001fjl.2_Missense_Mutation_p.S403R|GBA_uc010pfy.1_Missense_Mutation_p.S316R NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 403 S -> T (in GD; mild). carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) TGATGCTGTGGCTGTACTGCA 0.562 Gaucher_disease_type_I 36 48 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156845973 156845973 + Nonsense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:156845973G>T uc001fqh.1 + 13 1659 c.1603G>T c.(1603-1605)GAG>TAG p.E535* NTRK1_uc001fqf.1_Nonsense_Mutation_p.E499*|NTRK1_uc009wsi.1_Nonsense_Mutation_p.E234*|NTRK1_uc001fqi.1_Nonsense_Mutation_p.E529*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.E532* NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 535 Cytoplasmic (Potential).|Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCTCCTGCCTGAGCAGGACAA 0.627 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 40 69 --- --- --- --- PASS FCRL4 83417 broad.mit.edu 37 1 157555965 157555965 + Silent SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:157555965A>C uc001fqw.2 - 6 1264 c.1128T>G c.(1126-1128)ACT>ACG p.T376T FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 376 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CACCTCTCACAGTGACATTCA 0.383 91 155 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159175595 159175595 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:159175595C>A uc001fto.2 + 2 606 c.366C>A c.(364-366)AGC>AGA p.S122R DARC_uc001ftp.3_Missense_Mutation_p.S124R NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 122 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GGCTAGGTAGCACTCGCAGCT 0.647 55 85 --- --- --- --- PASS NR1I3 9970 broad.mit.edu 37 1 161201164 161201164 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:161201164A>G uc001fzx.2 - 6 852 c.649T>C c.(649-651)TTC>CTC p.F217L TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.F217L|NR1I3_uc001fzg.2_Missense_Mutation_p.F188L|NR1I3_uc001fzh.2_Missense_Mutation_p.F188L|NR1I3_uc001fzi.2_Missense_Mutation_p.F188L|NR1I3_uc001fzj.2_Missense_Mutation_p.F188L|NR1I3_uc001fzk.2_Missense_Mutation_p.F188L|NR1I3_uc001fzl.2_Missense_Mutation_p.F188L|NR1I3_uc001fzm.2_Missense_Mutation_p.F142L|NR1I3_uc001fzn.2_Missense_Mutation_p.F50L|NR1I3_uc009wug.2_Missense_Mutation_p.F50L|NR1I3_uc001fzp.2_Missense_Mutation_p.F217L|NR1I3_uc001fzo.2_Missense_Mutation_p.F50L|NR1I3_uc001fzq.2_Silent_p.T113T|NR1I3_uc001fzr.2_Silent_p.T113T|NR1I3_uc001fzs.2_Missense_Mutation_p.F50L|NR1I3_uc001fzt.2_Missense_Mutation_p.F50L|NR1I3_uc001fzu.2_Silent_p.T84T|NR1I3_uc001fzv.2_Silent_p.T84T|NR1I3_uc001fzw.2_Missense_Mutation_p.F217L|NR1I3_uc001fzy.2_Missense_Mutation_p.F217L|NR1I3_uc001fzz.2_Missense_Mutation_p.F217L|NR1I3_uc001gaa.2_Missense_Mutation_p.F217L|NR1I3_uc001gab.2_Missense_Mutation_p.F217L|NR1I3_uc001gac.2_Missense_Mutation_p.F188L|NR1I3_uc010pkm.1_Missense_Mutation_p.F188L|NR1I3_uc010pkn.1_Missense_Mutation_p.F217L NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 217 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCGCAGAGGAAGTTTTGTGTT 0.507 78 141 --- --- --- --- PASS ATF6 22926 broad.mit.edu 37 1 161928428 161928428 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:161928428C>A uc001gbr.2 + 16 2064 c.1997C>A c.(1996-1998)CCT>CAT p.P666H ATF6_uc001gbs.2_RNA NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 666 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AGCACCATCCCTGAGTCATTA 0.547 7 215 --- --- --- --- PASS RFWD2 64326 broad.mit.edu 37 1 175956108 175956108 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:175956108C>G uc001gku.1 - 18 2360 c.2104G>C c.(2104-2106)GCT>CCT p.A702P RFWD2_uc001gkv.1_Missense_Mutation_p.A678P|RFWD2_uc001gkw.1_Missense_Mutation_p.A462P|RFWD2_uc009wwv.2_Missense_Mutation_p.A501P|RFWD2_uc001gkt.1_Missense_Mutation_p.A541P NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 702 WD 7. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 CAGCACACAGCACTAACAAAT 0.358 14 209 --- --- --- --- PASS XPR1 9213 broad.mit.edu 37 1 180832869 180832869 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:180832869G>T uc001goi.2 + 12 1719 c.1527G>T c.(1525-1527)GTG>GTT p.V509V XPR1_uc009wxn.2_Silent_p.V444V NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 509 EXS.|Helical; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 ACACTATGGTGTTCTTTTACC 0.373 120 237 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238050087 238050087 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:238050087G>C uc001hym.2 - 6 823 c.823C>G c.(823-825)CGT>GGT p.R275G LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 275 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATGCTGTCACGAGTGACAGAG 0.488 95 44 --- --- --- --- PASS OR13G1 441933 broad.mit.edu 37 1 247836257 247836257 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr1:247836257G>T uc001idi.1 - 1 87 c.87C>A c.(85-87)CTC>CTA p.L29L NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GATAGACAATGAGAAAAAAGA 0.423 65 20 --- --- --- --- PASS RSAD2 91543 broad.mit.edu 37 2 7027089 7027089 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:7027089A>G uc002qyp.1 + 3 668 c.532A>G c.(532-534)ATC>GTC p.I178V NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 178 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) CATTCTCGCTATCTCCTGTGA 0.443 33 19 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25095475 25095475 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:25095475C>T uc002rfs.3 - 2 988 c.789G>A c.(787-789)GAG>GAA p.E263E ADCY3_uc010ykm.1_Silent_p.E263E NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 263 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TCATCTTCACCTCCAGCGACT 0.632 84 127 --- --- --- --- PASS GPN1 11321 broad.mit.edu 37 2 27854712 27854712 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:27854712G>C uc010ymc.1 + 4 320 c.299G>C c.(298-300)GGA>GCA p.G100A ZNF512_uc010yly.1_RNA|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Missense_Mutation_p.G74A|GPN1_uc010yma.1_Missense_Mutation_p.G7A|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_Intron|GPN1_uc010yme.1_Missense_Mutation_p.G100A|GPN1_uc010ezg.1_Intron NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 86 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 TATGGACTTGGACCCAATGGC 0.368 6 287 --- --- --- --- PASS GPN1 11321 broad.mit.edu 37 2 27854762 27854762 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:27854762G>C uc010ymc.1 + 4 370 c.349G>C c.(349-351)GAT>CAT p.D117H ZNF512_uc010yly.1_RNA|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Missense_Mutation_p.D91H|GPN1_uc010yma.1_Missense_Mutation_p.D24H|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_Intron|GPN1_uc010yme.1_Missense_Mutation_p.D117H|GPN1_uc010ezg.1_Intron NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 103 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 TACCAGATTTGATCAGGTATA 0.378 5 304 --- --- --- --- PASS GPN1 11321 broad.mit.edu 37 2 27855502 27855502 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:27855502G>A uc010ymc.1 + 5 378 c.357G>A c.(355-357)GTG>GTA p.V119V ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.V93V|GPN1_uc010yma.1_Silent_p.V26V|GPN1_uc010ymb.1_Silent_p.V10V|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Silent_p.V119V|GPN1_uc010ezg.1_5'UTR NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 105 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 TCTTTTAGGTGATGAAATTTA 0.413 8 258 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58313518 58313518 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:58313518C>G uc002rzo.2 + 8 1046 c.301C>G c.(301-303)CCT>GCT p.P101A VRK2_uc010fcb.2_Missense_Mutation_p.P101A|VRK2_uc002rzs.2_Missense_Mutation_p.P101A|VRK2_uc002rzr.2_Missense_Mutation_p.P101A|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Missense_Mutation_p.P101A|VRK2_uc010fcd.2_Missense_Mutation_p.P78A|VRK2_uc002rzp.2_Missense_Mutation_p.P101A|VRK2_uc010ypg.1_Missense_Mutation_p.P101A|VRK2_uc002rzq.2_Missense_Mutation_p.P101A|VRK2_uc002rzu.2_Missense_Mutation_p.P101A|VRK2_uc002rzt.2_5'UTR|VRK2_uc010yph.1_5'UTR NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 101 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TTTAGGAATTCCTCTGTTTTA 0.279 5 351 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80646650 80646650 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:80646650C>A uc010ysh.1 + 8 1219 c.1214C>A c.(1213-1215)GCT>GAT p.A405D CTNNA2_uc010yse.1_Missense_Mutation_p.A405D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A405D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A405D|CTNNA2_uc010ysi.1_Missense_Mutation_p.A37D NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 405 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CTCATTGAGGCTGCAAAGAGC 0.433 62 32 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96958793 96958793 + Missense_Mutation SNP T G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:96958793T>G uc002svu.2 - 16 2163 c.2077A>C c.(2077-2079)ACA>CCA p.T693P NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 693 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TTTTTCTCTGTGATACCCACA 0.403 45 59 --- --- --- --- PASS IL1F9 56300 broad.mit.edu 37 2 113737695 113737695 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:113737695G>A uc002tio.1 + 4 339 c.270G>A c.(268-270)AAG>AAA p.K90K IL1F9_uc010fkr.1_Silent_p.K55K NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 90 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 ATTGTGAGAAGGTTGGAGAAC 0.388 33 44 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168102982 168102982 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:168102982C>T uc002udx.2 + 8 5098 c.5080C>T c.(5080-5082)CTT>TTT p.L1694F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1519F|XIRP2_uc010fpq.2_Missense_Mutation_p.L1472F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1519 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TATCTATTGTCTTCTTCATGA 0.338 35 80 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170055374 170055374 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:170055374T>C uc002ues.2 - 45 8713 c.8500A>G c.(8500-8502)ATT>GTT p.I2834V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2834 LDL-receptor class A 19.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGAATACAAATATTTGAATTA 0.348 33 70 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611917 179611917 + Silent SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:179611917T>C uc002unb.2 - 46 15434 c.15210A>G c.(15208-15210)CTA>CTG p.L5070L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AGTATCTCTCTAGAGTCTCTC 0.522 51 141 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179615771 179615771 + Missense_Mutation SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:179615771A>C uc002unb.2 - 46 11580 c.11356T>G c.(11356-11358)TCT>GCT p.S3786A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AGTTCCTCAGATTCTATATTT 0.363 5 483 --- --- --- --- PASS DES 1674 broad.mit.edu 37 2 220290422 220290422 + Silent SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:220290422C>G uc002vll.2 + 8 1412 c.1326C>G c.(1324-1326)ACC>ACG p.T442T NM_001927 NP_001918 P17661 DESM_HUMAN desmin 442 Tail. T -> I (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments). cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGTCCATACCAAGAAGACGG 0.572 4 3 --- --- --- --- PASS STK11IP 114790 broad.mit.edu 37 2 220473376 220473376 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:220473376C>G uc002vml.2 + 15 1751 c.1708C>G c.(1708-1710)CTC>GTC p.L570V STK11IP_uc010zll.1_Missense_Mutation_p.L527V|STK11IP_uc002vmm.1_Missense_Mutation_p.L559V NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 570 Glu-rich. protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAATGCTTTCTCAGGGTCAC 0.607 26 20 --- --- --- --- PASS SP140 11262 broad.mit.edu 37 2 231106201 231106201 + Missense_Mutation SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr2:231106201A>C uc002vql.2 + 4 604 c.489A>C c.(487-489)CAA>CAC p.Q163H SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.Q163H|SP140_uc002vqn.2_Missense_Mutation_p.Q163H|SP140_uc002vqm.2_Missense_Mutation_p.Q163H|SP140_uc010fxl.2_Missense_Mutation_p.Q163H NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 163 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATGGTAAACAAGGTAACTATC 0.378 37 16 --- --- --- --- PASS EFHB 151651 broad.mit.edu 37 3 19961433 19961433 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:19961433G>T uc003cbl.3 - 3 1084 c.888C>A c.(886-888)AAC>AAA p.N296K EFHB_uc003cbm.2_Missense_Mutation_p.N166K NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 296 signal transduction proteinaceous extracellular matrix calcium ion binding 0 GATATCTGAAGTTGAAATACT 0.343 60 47 --- --- --- --- PASS STAC 6769 broad.mit.edu 37 3 36570437 36570437 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:36570437G>T uc003cgh.1 + 10 1109 c.1070G>T c.(1069-1071)GGG>GTG p.G357V STAC_uc011aya.1_Missense_Mutation_p.G296V NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 357 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 ACCTTCATTGGGTGTAAGGAA 0.383 21 14 --- --- --- --- PASS HYAL1 3373 broad.mit.edu 37 3 50340387 50340387 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:50340387T>C uc003czp.2 - 2 133 c.1A>G c.(1-3)ATG>GTG p.M1V HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.M1V|HYAL1_uc003czr.2_Missense_Mutation_p.M1V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.M1V|HYAL1_uc003czt.2_Missense_Mutation_p.M1V NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 1 extracellular space|lysosome hyalurononglucosaminidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) TGGGCTGCCATGGCACGGGAC 0.632 31 4 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62451077 62451077 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:62451077C>T uc003dll.2 - 26 3961 c.3601G>A c.(3601-3603)GAA>AAA p.E1201K CADPS_uc003dlj.1_Missense_Mutation_p.E156K|CADPS_uc003dlk.1_Missense_Mutation_p.E649K|CADPS_uc003dlm.2_Missense_Mutation_p.E1162K|CADPS_uc003dln.2_Missense_Mutation_p.E1122K NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1201 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AAAGTCCCTTCGTCATATCTG 0.333 5 133 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89391048 89391048 + Nonsense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:89391048C>T uc003dqy.2 + 5 1339 c.1114C>T c.(1114-1116)CAG>TAG p.Q372* EPHA3_uc003dqx.1_Nonsense_Mutation_p.Q372*|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 372 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAATATAAAACAGTGTGAGCC 0.493 TSP Lung(6;0.00050) 55 23 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111286386 111286386 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:111286386G>T uc003dxw.2 + 3 605 c.435G>T c.(433-435)TGG>TGT p.W145C CD96_uc003dxv.2_Missense_Mutation_p.W145C|CD96_uc003dxx.2_Missense_Mutation_p.W145C|CD96_uc010hpy.1_Missense_Mutation_p.W145C NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 145 Extracellular (Potential). cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 CAGATGAATGGAACAGCAACC 0.328 Opitz_Trigonocephaly_syndrome 4 199 --- --- --- --- PASS CCDC52 152185 broad.mit.edu 37 3 113169255 113169255 + Nonsense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:113169255G>A uc003eag.3 - 15 2542 c.2251C>T c.(2251-2253)CAG>TAG p.Q751* CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Nonsense_Mutation_p.Q647* NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 751 Potential. cell division|mitosis centriole|spindle protein binding 0 AGTTTCTGCTGCTCTATCAAC 0.428 259 79 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 172096201 172096201 + Silent SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:172096201C>G uc003fhy.2 + 24 3322 c.3150C>G c.(3148-3150)ACC>ACG p.T1050T FNDC3B_uc003fhz.3_Silent_p.T1050T NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1050 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TCAGCACAACCAAAAGTGTCC 0.478 6 270 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183056620 183056620 + Missense_Mutation SNP A T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:183056620A>T uc003fli.1 - 5 544 c.454T>A c.(454-456)TAC>AAC p.Y152N MCF2L2_uc003flj.1_Missense_Mutation_p.Y152N|MCF2L2_uc003flp.1_Missense_Mutation_p.Y187N NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 152 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTTCGATAGTATTTAATGCCA 0.343 12 340 --- --- --- --- PASS RFC4 5984 broad.mit.edu 37 3 186510376 186510376 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr3:186510376C>A uc003fqz.2 - 7 801 c.578G>T c.(577-579)AGA>ATA p.R193I RFC4_uc011bsc.1_Missense_Mutation_p.R193I|RFC4_uc011bsd.1_Missense_Mutation_p.R193I NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 193 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TTTTGAACATCTAGAGGTCAG 0.363 63 153 --- --- --- --- PASS CRMP1 1400 broad.mit.edu 37 4 5853143 5853143 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr4:5853143C>T uc003gip.2 - 6 633 c.532G>A c.(532-534)GAC>AAC p.D178N CRMP1_uc003gin.1_Missense_Mutation_p.D90N|CRMP1_uc003giq.2_Missense_Mutation_p.D178N|CRMP1_uc003gir.2_Missense_Mutation_p.D173N|CRMP1_uc003gis.2_Missense_Mutation_p.D292N NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 178 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) ACCTGGCTGTCGGACATTTGG 0.408 10 261 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62679560 62679560 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr4:62679560C>T uc010ihh.2 + 6 1402 c.1229C>T c.(1228-1230)TCT>TTT p.S410F LPHN3_uc003hcq.3_Missense_Mutation_p.S410F|LPHN3_uc003hcs.1_Missense_Mutation_p.S239F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 410 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 tcatacatttctccgccaatt 0.124 3 61 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114276009 114276009 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr4:114276009G>T uc003ibe.3 + 38 6335 c.6235G>T c.(6235-6237)GAT>TAT p.D2079Y ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.D2094Y NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2046 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TAAGAAAGAAGATGCAGCTGG 0.483 6 184 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169195106 169195106 + Silent SNP G A A rs138638907 TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr4:169195106G>A uc003irp.2 - 17 2725 c.2433C>T c.(2431-2433)GTC>GTT p.V811V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 811 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CAACGTACACGACCACCCCGT 0.453 13 146 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183676285 183676285 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr4:183676285A>G uc003ivd.1 + 21 4802 c.4765A>G c.(4765-4767)ATA>GTA p.I1589V ODZ3_uc003ive.1_Missense_Mutation_p.I1002V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1589 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ATGGTTGACAATAGGAACAAA 0.428 28 42 --- --- --- --- PASS IRX2 153572 broad.mit.edu 37 5 2749025 2749025 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:2749025T>A uc003jda.2 - 3 1039 c.797A>T c.(796-798)GAC>GTC p.D266V IRX2_uc003jdb.2_Missense_Mutation_p.D266V NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 266 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GTCGTCCTCGTCGTCCTCCAG 0.682 9 30 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35955751 35955751 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:35955751T>C uc003jjv.1 - 6 1448 c.1291A>G c.(1291-1293)AAG>GAG p.K431E UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.K431E|UGT3A1_uc011cor.1_Missense_Mutation_p.K397E NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 431 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACATACCTCTTGTCTTCTATG 0.408 34 79 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35966003 35966003 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:35966003G>A uc003jjv.1 - 4 485 c.328C>T c.(328-330)CTT>TTT p.L110F UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L110F|UGT3A1_uc011cor.1_Missense_Mutation_p.L76F|UGT3A1_uc003jjy.1_Missense_Mutation_p.L56F NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 110 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCTTTACAAGGGCTTCAGAT 0.274 33 58 --- --- --- --- PASS FBXO4 26272 broad.mit.edu 37 5 41941379 41941379 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:41941379G>A uc003jmq.2 + 7 1216 c.1160G>A c.(1159-1161)AGA>AAA p.R387K FBXO4_uc003jmr.2_3'UTR NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 387 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AAGCGTGCAAGATGATTCTCT 0.413 6 104 --- --- --- --- PASS PDE4D 5144 broad.mit.edu 37 5 59284455 59284455 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:59284455G>A uc003jsb.2 - 3 345 c.132C>T c.(130-132)CGC>CGT p.R44R PDE4D_uc010iwj.1_Silent_p.R44R|PDE4D_uc003jse.1_Silent_p.R56R NM_006203 NP_006194 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 2 Error:Variant_position_missing_in_Q08499_after_alignment signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GCTGAATATTGCGACATGAAA 0.483 87 36 --- --- --- --- PASS RHOBTB3 22836 broad.mit.edu 37 5 95087983 95087983 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:95087983G>A uc003klm.2 + 5 1148 c.611G>A c.(610-612)AGT>AAT p.S204N RHOBTB3_uc003klk.1_Translation_Start_Site NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 204 retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CAGAAGACAAGTGAAAAAATG 0.318 59 27 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140572692 140572692 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:140572692G>A uc003lix.2 + 1 741 c.567G>A c.(565-567)ATG>ATA p.M189I NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 189 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGAAGGCATGATATATCCAG 0.502 15 178 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140710767 140710767 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:140710767C>A uc003lji.1 + 1 516 c.516C>A c.(514-516)CTC>CTA p.L172L PCDHGA1_uc011dan.1_Silent_p.L172L NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 172 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACCAACTCAGCTCTAACC 0.483 95 59 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145383666 145383666 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:145383666G>A uc003lnt.2 + 4 932 c.694G>A c.(694-696)GAA>AAA p.E232K SH3RF2_uc011dbl.1_Missense_Mutation_p.E232K NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 232 SH3 2. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAACTGGGCAGAAGGCAAGTT 0.418 7 123 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 159996670 159996670 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:159996670C>T uc003lym.1 - 25 4618 c.3771G>A c.(3769-3771)GTG>GTA p.V1257V ATP10B_uc010jit.1_Silent_p.V507V NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1257 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCCGAGGAGCACGACTCCGT 0.488 47 31 --- --- --- --- PASS GABRB2 2561 broad.mit.edu 37 5 160721318 160721318 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:160721318A>G uc003lys.1 - 11 1527 c.1309T>C c.(1309-1311)TCC>CCC p.S437P GABRB2_uc011deh.1_Missense_Mutation_p.S238P|GABRB2_uc003lyr.1_Missense_Mutation_p.S399P|GABRB2_uc003lyt.1_Missense_Mutation_p.S399P|GABRB2_uc010jiu.1_Missense_Mutation_p.S336P NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 437 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGATGCTGGAGGCATCATAG 0.507 7 66 --- --- --- --- PASS NRN1 51299 broad.mit.edu 37 6 6002585 6002585 + Splice_Site SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:6002585C>G uc003mwu.2 - 2 851 c.200_splice c.e2+1 p.T67_splice NRN1_uc003mwt.2_Splice_Site_p.T93_splice NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN neuritin precursor anchored to membrane|plasma membrane 0 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) AGGACACTTACGTGCACACGG 0.622 64 164 --- --- --- --- PASS OR2J3 442186 broad.mit.edu 37 6 29080597 29080597 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:29080597G>T uc011dll.1 + 1 930 c.930G>T c.(928-930)TGG>TGT p.W310C NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAATGGGGTGGGAATGAGCCT 0.373 17 51 --- --- --- --- PASS OPN5 221391 broad.mit.edu 37 6 47754339 47754339 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:47754339C>T uc003ozc.2 + 2 224 c.219C>T c.(217-219)ATC>ATT p.I73I OPN5_uc003ozd.2_5'Flank NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 73 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TAATGACTATCAATTTAGCAG 0.403 11 152 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70049312 70049312 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:70049312C>T uc003pev.3 + 26 3823 c.3375C>T c.(3373-3375)TCC>TCT p.S1125S BAI3_uc010kak.2_Silent_p.S1125S|BAI3_uc011dxx.1_Silent_p.S331S|BAI3_uc003pex.1_Silent_p.S255S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1125 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATAAACGCTCCATATTGTTTC 0.468 136 201 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87968709 87968709 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:87968709C>G uc003plm.3 + 8 5403 c.5362C>G c.(5362-5364)CAA>GAA p.Q1788E NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1788 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ACAAAATGCTCAAATAAATTA 0.343 3 37 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102247544 102247544 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:102247544G>A uc003pqp.3 + 7 1222 c.973G>A c.(973-975)GAT>AAT p.D325N GRIK2_uc003pqn.2_Missense_Mutation_p.D325N|GRIK2_uc003pqo.3_Missense_Mutation_p.D325N|GRIK2_uc010kcw.2_Missense_Mutation_p.D325N NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 325 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCTAATGTATGATGCTGTGCA 0.463 74 52 --- --- --- --- PASS ARMC2 84071 broad.mit.edu 37 6 109225492 109225492 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:109225492G>A uc003pss.3 + 8 1081 c.907G>A c.(907-909)GGA>AGA p.G303R ARMC2_uc011eao.1_Missense_Mutation_p.G138R NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 303 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TTTAGAGGAAGGAAACATGCT 0.393 114 58 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131222122 131222122 + Silent SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:131222122T>A uc003qch.2 - 7 1310 c.1128A>T c.(1126-1128)GCA>GCT p.A376A EPB41L2_uc003qcg.1_Silent_p.A376A|EPB41L2_uc011eby.1_Silent_p.A376A|EPB41L2_uc003qci.2_Silent_p.A376A|EPB41L2_uc010kfk.2_Silent_p.A376A|EPB41L2_uc010kfl.1_Silent_p.A376A NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 376 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGTGCAGCTCTGCCACCTTCT 0.478 159 69 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138607837 138607837 + Splice_Site SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:138607837G>C uc003qhu.2 + 16 2570 c.2570_splice c.e16-1 p.G857_splice NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCATGTTCCAGGCGTGGCATT 0.478 5 115 --- --- --- --- PASS TMEM196 256130 broad.mit.edu 37 7 19765275 19765275 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:19765275G>T uc011jyg.1 - 3 406 c.321C>A c.(319-321)TCC>TCA p.S107S TMEM196_uc003sur.2_RNA NM_152774 NP_689987 Q5HYL7 TM196_HUMAN transmembrane protein 196 113 Helical; (Potential). integral to membrane 0 CGAGAGACATGGAGGCAAGGT 0.527 36 30 --- --- --- --- PASS CREB5 9586 broad.mit.edu 37 7 28857735 28857735 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:28857735G>A uc003szq.2 + 10 1692 c.1302G>A c.(1300-1302)TTG>TTA p.L434L CREB5_uc003szo.2_Silent_p.L401L|CREB5_uc003szr.2_Silent_p.L427L|CREB5_uc003szs.2_Silent_p.L295L NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 434 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TGAAACAGTTGTTGTTAACAC 0.378 25 82 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55268990 55268990 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:55268990C>T uc003tqk.2 + 25 3302 c.3056C>T c.(3055-3057)CCA>CTA p.P1019L EGFR_uc010kzg.1_Missense_Mutation_p.P974L|EGFR_uc011kco.1_Missense_Mutation_p.P966L NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 1019 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TACCTCATCCCACAGCAGGGC 0.537 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 64 37 --- --- --- --- PASS EPHB4 2050 broad.mit.edu 37 7 100404160 100404160 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:100404160G>A uc003uwn.1 - 14 2857 c.2366C>T c.(2365-2367)CCG>CTG p.P789L EPHB4_uc003uwm.1_Missense_Mutation_p.P696L|EPHB4_uc010lhj.1_Missense_Mutation_p.P789L NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 789 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) AATGGCCTCCGGGGCAGTCCA 0.577 4 128 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103124226 103124226 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:103124226G>A uc003vca.2 - 62 10215 c.10055C>T c.(10054-10056)CCC>CTC p.P3352L RELN_uc010liz.2_Missense_Mutation_p.P3352L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3352 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CACAGCGTGGGGGCCACTCAG 0.507 63 86 --- --- --- --- PASS GPR37 2861 broad.mit.edu 37 7 124386657 124386657 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:124386657G>T uc003vli.2 - 2 2415 c.1764C>A c.(1762-1764)ACC>ACA p.T588T NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 588 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 CGAGTTCCGTGGTGTACTCGT 0.502 4 194 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143771467 143771467 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:143771467C>T uc011ktx.1 + 1 155 c.155C>T c.(154-156)TCC>TTC p.S52F NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TCACTGGACTCCAGACTCCAC 0.572 42 77 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143771729 143771729 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:143771729C>T uc011ktx.1 + 1 417 c.417C>T c.(415-417)GTC>GTT p.V139V NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 139 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CCTGGAAAGTCTGCATCACTT 0.488 67 119 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143771835 143771835 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:143771835C>T uc011ktx.1 + 1 523 c.523C>T c.(523-525)CAC>TAC p.H175Y NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GAAACTTAATCACTTTTTCTG 0.463 56 146 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154595609 154595609 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:154595609C>T uc003wlk.2 + 14 1572 c.1443C>T c.(1441-1443)ACC>ACT p.T481T DPP6_uc003wli.2_Silent_p.T417T|DPP6_uc003wlm.2_Silent_p.T419T|DPP6_uc011kvq.1_Silent_p.T374T NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 481 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGTCCATCACCTCCGGGGACT 0.572 11 9 --- --- --- --- PASS RAB11FIP1 80223 broad.mit.edu 37 8 37729089 37729089 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr8:37729089C>A uc003xkm.1 - 4 3275 c.3231G>T c.(3229-3231)CCG>CCT p.P1077P RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Silent_p.P406P|RAB11FIP1_uc003xko.1_Silent_p.P406P|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1077 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CATTTCCCATCGGTTTTTCTT 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 729 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61707586 61707586 + Missense_Mutation SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr8:61707586A>C uc003xue.2 + 4 2615 c.2138A>C c.(2137-2139)AAG>ACG p.K713T NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 713 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTGAAGAAAAAGGTCAACAAG 0.408 35 66 --- --- --- --- PASS ATP6V1C1 528 broad.mit.edu 37 8 104054576 104054576 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr8:104054576G>T uc003ykz.3 + 3 386 c.141G>T c.(139-141)ACG>ACT p.T47T ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Silent_p.T47T|ATP6V1C1_uc011lhl.1_Intron NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 47 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) AGGTTGGCACGTTGGATGTCT 0.358 47 131 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18826299 18826299 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr9:18826299G>T uc003zne.3 + 22 4079 c.3952G>T c.(3952-3954)GTC>TTC p.V1318F ADAMTSL1_uc003znf.3_Missense_Mutation_p.V19F NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1318 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TGAAGCTGAAGTCACTTGGTT 0.483 15 5 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18826395 18826395 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr9:18826395C>A uc003zne.3 + 22 4175 c.4048C>A c.(4048-4050)CTG>ATG p.L1350M ADAMTSL1_uc003znf.3_Missense_Mutation_p.L51M NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1350 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GGATCAGGGCCTGTACTCCTG 0.557 3 30 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104356829 104356829 + Silent SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr9:104356829C>G uc004bbr.2 - 1 455 c.384G>C c.(382-384)ACG>ACC p.T128T GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 125 calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GCTGCCAGTCCGTCAGGTTGT 0.507 68 37 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475813 120475813 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr9:120475813C>A uc004bjz.2 + 3 1698 c.1407C>A c.(1405-1407)GGC>GGA p.G469G TLR4_uc004bka.2_Silent_p.G429G|TLR4_uc004bkb.2_Silent_p.G269G NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 469 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TCTTCAATGGCTTGTCCAGTC 0.418 61 124 --- --- --- --- PASS TUBAL3 79861 broad.mit.edu 37 10 5435992 5435992 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:5435992T>C uc001ihy.2 - 4 869 c.829A>G c.(829-831)ACA>GCA p.T277A TUBAL3_uc001ihz.2_Missense_Mutation_p.T237A NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 277 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 GCGAAGGCTGTCATGGGGAAA 0.517 84 107 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17130187 17130187 + Missense_Mutation SNP A T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:17130187A>T uc001ioo.2 - 15 1975 c.1923T>A c.(1921-1923)GAT>GAA p.D641E NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 641 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTTGCAGTCATCATGGTGCT 0.418 19 52 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21112199 21112199 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:21112199T>C uc001iqi.2 - 19 2297 c.1900A>G c.(1900-1902)ACA>GCA p.T634A NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 634 Nebulin 17. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 GAAATGGCTGTTGCATGTTTA 0.274 33 45 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25878045 25878045 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:25878045C>A uc001isj.2 + 8 1923 c.1863C>A c.(1861-1863)CTC>CTA p.L621L NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 621 Helical; Name=6; (Potential). ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ACAATGAGCTCATCATCTCTG 0.398 35 55 --- --- --- --- PASS LYZL1 84569 broad.mit.edu 37 10 29581497 29581497 + Silent SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:29581497G>C uc001iul.2 + 3 384 c.327G>C c.(325-327)ACG>ACC p.T109T NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 63 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) CAGCCCAGACGGTCCTGGATG 0.552 10 50 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50725112 50725112 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:50725112C>A uc001jht.2 - 2 304 c.49G>T c.(49-51)GAT>TAT p.D17Y ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.D485Y|PGBD3_uc001jhu.2_Missense_Mutation_p.D485Y NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 17 pancreas(1)|breast(1)|skin(1) 3 ATGCTGTCATCTGTCTCTAAA 0.393 67 129 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61932103 61932103 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:61932103G>A uc001jky.2 - 21 2633 c.2441C>T c.(2440-2442)ACC>ATC p.T814I ANK3_uc001jkx.2_5'UTR|ANK3_uc010qih.1_Missense_Mutation_p.T797I|ANK3_uc001jkz.3_Missense_Mutation_p.T808I|ANK3_uc001jlb.1_Missense_Mutation_p.T343I|ANK3_uc001jlc.1_Missense_Mutation_p.T475I NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 814 ANK 23. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TATCTTCAGGGTGTCCACTAC 0.488 33 54 --- --- --- --- PASS CDK1 983 broad.mit.edu 37 10 62553719 62553719 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:62553719A>G uc001jld.2 + 8 1014 c.880A>G c.(880-882)ATT>GTT p.I294V CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Missense_Mutation_p.I294V|CDK1_uc001jlg.2_Missense_Mutation_p.I237V NM_001786 NP_001777 P06493 CDK1_HUMAN cell division cycle 2 isoform 1 294 activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 GGACAATCAGATTAAGAAGAT 0.294 10 121 --- --- --- --- PASS ANKRD1 27063 broad.mit.edu 37 10 92675931 92675931 + Silent SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:92675931A>G uc001khe.1 - 6 896 c.648T>C c.(646-648)GAT>GAC p.D216D NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 216 cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) GGAATACCTTATCTCGGGCGC 0.294 34 59 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 95987096 95987096 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:95987096G>A uc001kjk.2 + 5 2477 c.1843G>A c.(1843-1845)GCA>ACA p.A615T PLCE1_uc010qnx.1_Missense_Mutation_p.A615T|PLCE1_uc001kjm.2_Missense_Mutation_p.A307T NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 615 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GATCCTCACGGCAGGCTCCAT 0.473 4 70 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118220511 118220511 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:118220511C>A uc001lcl.3 + 6 700 c.599C>A c.(598-600)ACT>AAT p.T200N NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 200 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TTCCACAACACTCCAAAGGAA 0.443 35 104 --- --- --- --- PASS CUZD1 50624 broad.mit.edu 37 10 124596492 124596492 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:124596492C>T uc001lgq.2 - 5 1004 c.672G>A c.(670-672)CTG>CTA p.L224L CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Silent_p.L224L|CUZD1_uc010qtz.1_Silent_p.L224L NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 224 Extracellular (Potential).|CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CTTGTCCAATCAGGCCAGAGT 0.468 4 71 --- --- --- --- PASS CYP2E1 1571 broad.mit.edu 37 10 135345141 135345141 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr10:135345141G>T uc001lnj.1 + 3 423 c.390G>T c.(388-390)CTG>CTT p.L130L CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 130 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GGTTTTCCCTGACCACCCTCC 0.532 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 63 85 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3078590 3078590 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:3078590T>C uc001lxh.2 - 1 82 c.8A>G c.(7-9)GAT>GGT p.D3G CARS_uc001lxe.2_5'UTR|CARS_uc001lxf.2_Missense_Mutation_p.D3G|CARS_uc001lxg.2_Missense_Mutation_p.D3G|CARS_uc010qxo.1_Missense_Mutation_p.D3G|CARS_uc010qxp.1_5'UTR NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 3 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) CCCGGAGGAATCTGCCATGGC 0.726 T ALK ALCL 4 3 --- --- --- --- PASS MRGPRE 116534 broad.mit.edu 37 11 3249739 3249739 + Silent SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:3249739G>C uc001lxq.3 - 2 598 c.288C>G c.(286-288)ACC>ACG p.T96T NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 96 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGCCAGGCTGGTCTGCACGA 0.662 6 31 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5411481 5411481 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:5411481C>G uc010qzc.1 + 1 853 c.853C>G c.(853-855)CAT>GAT p.H285D HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 285 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTGCTATTCATCTTCTTAT 0.493 18 21 --- --- --- --- PASS OR52B6 340980 broad.mit.edu 37 11 5602719 5602719 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:5602719C>A uc010qzi.1 + 1 613 c.613C>A c.(613-615)CAT>AAT p.H205N HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 205 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCATTGCCCATCTGTCCTG 0.443 76 191 --- --- --- --- PASS OR52N1 79473 broad.mit.edu 37 11 5809819 5809819 + Nonsense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:5809819G>T uc010qzo.1 - 1 228 c.228C>A c.(226-228)TGC>TGA p.C76* TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGGTGCTGGTGCACATGAGCA 0.463 34 72 --- --- --- --- PASS OLFML1 283298 broad.mit.edu 37 11 7509427 7509427 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:7509427A>G uc001mfi.2 + 2 551 c.199A>G c.(199-201)ATA>GTA p.I67V uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.I67V|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.I67V NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 67 extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CTCAAAAAATATATCTGTCAT 0.418 32 37 --- --- --- --- PASS OR5P2 120065 broad.mit.edu 37 11 7817568 7817568 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:7817568G>A uc001mfp.1 - 1 922 c.922C>T c.(922-924)CAT>TAT p.H308Y NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAAGCATCATGAGAAAGTATT 0.388 92 111 --- --- --- --- PASS SOX6 55553 broad.mit.edu 37 11 15994598 15994598 + Silent SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:15994598A>C uc001mme.2 - 16 2316 c.2283T>G c.(2281-2283)ACT>ACG p.T761T SOX6_uc001mmd.2_Silent_p.T724T|SOX6_uc001mmf.2_Silent_p.T721T|SOX6_uc001mmg.2_Silent_p.T728T NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 748 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TAGTTGCCATAGTGATAGCAC 0.502 24 56 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579262 55579262 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:55579262G>A uc001nhw.1 + 1 320 c.320G>A c.(319-321)TGT>TAT p.C107Y NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TTTTGCACTTGTGTGGTCACT 0.463 67 138 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58189942 58189942 + Missense_Mutation SNP A T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:58189942A>T uc010rkg.1 - 1 793 c.793T>A c.(793-795)TCC>ACC p.S265T NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGTCCATGGAGTGGCTGGAG 0.498 37 59 --- --- --- --- PASS NAALADL1 10004 broad.mit.edu 37 11 64825641 64825641 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:64825641G>T uc001ocn.2 - 2 283 c.267C>A c.(265-267)GAC>GAA p.D89E NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 89 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CTGACTCTGGGTCCTTCCAGC 0.662 20 21 --- --- --- --- PASS LTBP3 4054 broad.mit.edu 37 11 65325130 65325130 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:65325130C>A uc001oej.2 - 1 570 c.301G>T c.(301-303)GAC>TAC p.D101Y LTBP3_uc010roi.1_5'UTR|LTBP3_uc001oei.2_Missense_Mutation_p.D101Y|LTBP3_uc010roj.1_Missense_Mutation_p.D87Y|LTBP3_uc010rok.1_Missense_Mutation_p.D12Y NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 101 Gly-rich. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 GTGAGCGTGTCTGTGCTGTGG 0.682 25 40 --- --- --- --- PASS KRTAP5-7 440050 broad.mit.edu 37 11 71238460 71238460 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:71238460C>A uc001oqq.1 + 1 148 c.114C>A c.(112-114)CCC>CCA p.P38P NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 38 1.|7 X 4 AA repeats of C-C-X-P. keratin filament 0 GCTGTGTGCCCGTCTGCTGCT 0.687 55 87 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73811639 73811639 + Missense_Mutation SNP C T T rs143196767 by1000genomes TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:73811639C>T uc001ouu.2 - 15 2890 c.2663G>A c.(2662-2664)CGG>CAG p.R888Q NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 888 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCCTGGGCTCCGCACCTTATT 0.438 7 111 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73825470 73825470 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:73825470G>C uc001ouu.2 - 10 1916 c.1689C>G c.(1687-1689)AGC>AGG p.S563R C2CD3_uc001ouv.2_Missense_Mutation_p.S563R NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 563 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GACCAGCATAGCTTTTTTTGC 0.433 30 44 --- --- --- --- PASS KDM4D 55693 broad.mit.edu 37 11 94731717 94731717 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:94731717G>A uc001pfe.2 + 3 2013 c.1181G>A c.(1180-1182)GGG>GAG p.G394E NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 394 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GCCCGCAGTGGGACACGGTGC 0.632 10 41 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105732909 105732909 + Missense_Mutation SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:105732909A>C uc001pix.2 + 5 1093 c.647A>C c.(646-648)GAG>GCG p.E216A GRIA4_uc001piu.1_Missense_Mutation_p.E216A|GRIA4_uc001piw.2_Missense_Mutation_p.E216A|GRIA4_uc001piv.2_Missense_Mutation_p.E216A|GRIA4_uc009yxk.1_Missense_Mutation_p.E216A NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 216 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TGTGAGATAGAGAGACTTCAA 0.333 26 38 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117329603 117329603 + Missense_Mutation SNP G C C rs150002652 TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:117329603G>C uc001prh.1 - 19 3617 c.3615C>G c.(3613-3615)ATC>ATG p.I1205M NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1145 Fibronectin type-III 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCGTGGTGGTGATGTTCTGCA 0.657 48 124 --- --- --- --- PASS FOXM1 2305 broad.mit.edu 37 12 2968732 2968732 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:2968732G>A uc001qlf.2 - 9 1629 c.1364C>T c.(1363-1365)CCA>CTA p.P455L uc001qld.2_RNA|FOXM1_uc001qle.2_Missense_Mutation_p.P493L|FOXM1_uc001qlg.2_Missense_Mutation_p.P440L|FOXM1_uc009zea.2_Missense_Mutation_p.P440L|FOXM1_uc009zeb.2_Missense_Mutation_p.P439L NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 455 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) AGTCTGAACTGGAAGCAAAGG 0.532 16 142 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6182863 6182863 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:6182863G>A uc001qnn.1 - 8 1169 c.919C>T c.(919-921)CCT>TCT p.P307S VWF_uc010set.1_Missense_Mutation_p.P307S NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 307 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTGGCGCAAGGGGACACACAC 0.557 47 78 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7635988 7635988 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:7635988C>T uc001qsz.3 - 12 3191 c.3063G>A c.(3061-3063)AAG>AAA p.K1021K CD163_uc001qta.3_Silent_p.K1021K|CD163_uc009zfw.2_Silent_p.K1054K NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1021 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CAGCGTCTTCCTTGTGCCCAC 0.527 23 30 --- --- --- --- PASS RIMKLB 57494 broad.mit.edu 37 12 8906535 8906535 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:8906535C>A uc001quu.2 + 5 794 c.543C>A c.(541-543)AGC>AGA p.S181R RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.S181R|RIMKLB_uc010sgl.1_Missense_Mutation_p.S181R|RIMKLB_uc001quw.2_Missense_Mutation_p.S181R NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 181 ATP-grasp.|ATP (By similarity). protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CTGATCTAAGCCATCTTATTC 0.433 4 118 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20876025 20876025 + Silent SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:20876025T>C uc001rej.3 + 10 1378 c.1023T>C c.(1021-1023)GAT>GAC p.D341D SLCO1C1_uc010sii.1_Silent_p.D341D|SLCO1C1_uc010sij.1_Silent_p.D292D|SLCO1C1_uc009zip.2_Silent_p.D175D|SLCO1C1_uc001rei.2_Silent_p.D341D|SLCO1C1_uc010sik.1_Silent_p.D223D NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 341 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GTTTTACAGATTTTCTTCCAT 0.413 45 85 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21457502 21457502 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:21457502T>C uc001rer.2 - 5 699 c.448A>G c.(448-450)ACA>GCA p.T150A SLCO1A2_uc001res.2_Missense_Mutation_p.T150A|SLCO1A2_uc010siq.1_Missense_Mutation_p.T18A|SLCO1A2_uc010sio.1_Missense_Mutation_p.T18A|SLCO1A2_uc010sip.1_Missense_Mutation_p.T18A|SLCO1A2_uc001ret.2_Missense_Mutation_p.T148A|SLCO1A2_uc001reu.2_Missense_Mutation_p.T130A NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 150 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 ACTTCCTTTGTACACTCTGCA 0.348 55 93 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40422284 40422284 + Silent SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:40422284C>G uc010skm.1 - 3 795 c.744G>C c.(742-744)CCG>CCC p.P248P SLC2A13_uc001rmf.2_Silent_p.P248P NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 248 Helical; Name=6; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) GTATAACCGCCGGAACTGCTG 0.413 HNSCC(50;0.14) 6 117 --- --- --- --- PASS KRT76 51350 broad.mit.edu 37 12 53170493 53170493 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:53170493C>A uc001sax.2 - 1 637 c.583G>T c.(583-585)GCC>TCC p.A195S NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 195 Coil 1A.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 ATGAAGGAGGCAAACTTGTTG 0.502 34 81 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57573260 57573260 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:57573260G>A uc001snd.2 + 29 5353 c.4887G>A c.(4885-4887)GTG>GTA p.V1629V NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1629 LDL-receptor class B 13.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGCAGCGTGTGTACTGGTCTG 0.587 22 43 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62960174 62960174 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:62960174A>G uc001sre.2 + 29 4658 c.4267A>G c.(4267-4269)AAA>GAA p.K1423E MON2_uc009zqj.2_Missense_Mutation_p.K1423E|MON2_uc010ssl.1_Missense_Mutation_p.K1351E|MON2_uc010ssm.1_Missense_Mutation_p.K1394E|MON2_uc010ssn.1_Missense_Mutation_p.K1417E|MON2_uc001srf.2_Missense_Mutation_p.K1186E|MON2_uc001srg.2_Missense_Mutation_p.K292E NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1424 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTATACCAAAAAACAGCGTG 0.363 83 112 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 100166842 100166842 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:100166842G>A uc001tge.1 - 8 1403 c.986C>T c.(985-987)TCA>TTA p.S329L ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.S295L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 329 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CAAGAGTTTTGATAATTCTCC 0.313 5 116 --- --- --- --- PASS TCHP 84260 broad.mit.edu 37 12 110342594 110342594 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:110342594G>T uc001tpn.2 + 4 605 c.452G>T c.(451-453)CGA>CTA p.R151L TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.R151L NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 151 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 CCGAAACTTCGAGAGGTGAAA 0.353 32 71 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112687950 112687950 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:112687950T>C uc009zwc.2 - 18 2700 c.2682A>G c.(2680-2682)ATA>ATG p.I894M C12orf51_uc010syk.1_Missense_Mutation_p.I716M|C12orf51_uc001tts.2_Missense_Mutation_p.I707M|C12orf51_uc001ttt.3_Missense_Mutation_p.I705M NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CAACATACTTTATACTTGGTC 0.373 23 20 --- --- --- --- PASS KDM2B 84678 broad.mit.edu 37 12 121958790 121958790 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr12:121958790G>T uc001uat.2 - 9 1149 c.1045C>A c.(1045-1047)CGG>AGG p.R349R KDM2B_uc001uas.2_Silent_p.R318R|KDM2B_uc001uau.2_Silent_p.R232R|KDM2B_uc001uav.3_Intron NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 349 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CTCCTTACCCGCGTCCTGTCC 0.597 3 73 --- --- --- --- PASS CCDC122 160857 broad.mit.edu 37 13 44433997 44433997 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr13:44433997C>A uc010acf.2 - 5 625 c.366G>T c.(364-366)ATG>ATT p.M122I CCDC122_uc010tfn.1_Missense_Mutation_p.M122I NM_144974 NP_659411 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 122 0 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) TATATTTTATCATGTGTTCCT 0.318 81 34 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58208864 58208864 + Silent SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr13:58208864C>G uc001vhq.1 + 1 3076 c.2184C>G c.(2182-2184)GTC>GTG p.V728V PCDH17_uc010aec.1_Silent_p.V728V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 728 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCATCGCCGTCAAGTGCAAGC 0.587 42 25 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42357009 42357009 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:42357009C>T uc001wvm.2 + 3 2379 c.1181C>T c.(1180-1182)TCT>TTT p.S394F LRFN5_uc010ana.2_Missense_Mutation_p.S394F NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 394 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATCCTGGTTCTTCAGATATC 0.383 HNSCC(30;0.082) 43 26 --- --- --- --- PASS GALNTL1 57452 broad.mit.edu 37 14 69787482 69787482 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:69787482C>G uc010aqu.1 + 2 325 c.232C>G c.(232-234)CAG>GAG p.Q78E GALNTL1_uc001xla.1_Missense_Mutation_p.Q78E|GALNTL1_uc001xlb.1_Missense_Mutation_p.Q78E NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 78 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GTCGGCCAAGCAGCTGAAGGC 0.597 50 28 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71444635 71444635 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:71444635C>T uc001xmo.2 + 6 2027 c.1581C>T c.(1579-1581)TCC>TCT p.S527S PCNX_uc001xmn.3_Silent_p.S527S|PCNX_uc010are.1_Silent_p.S527S NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 527 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTGTGGATTCCAAAGTGCGTA 0.463 9 142 --- --- --- --- PASS ISM2 145501 broad.mit.edu 37 14 77948969 77948969 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:77948969C>T uc001xtz.2 - 4 743 c.669G>A c.(667-669)TCG>TCA p.S223S ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Silent_p.S135S|ISM2_uc010tvl.1_Silent_p.S142S NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 223 extracellular region skin(1) 1 ACAGGTCTATCGACACCTCGG 0.622 44 143 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96779474 96779474 + Missense_Mutation SNP C A A rs149230704 by1000genomes TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:96779474C>A uc001yfi.2 - 25 4135 c.3770G>T c.(3769-3771)CGA>CTA p.R1257L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1257 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAGAAGAGATCGGATTGGCAA 0.348 4 112 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31329971 31329971 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:31329971G>T uc001zfm.2 - 19 2576 c.2448C>A c.(2446-2448)ATC>ATA p.I816I TRPM1_uc010azy.2_Silent_p.I723I|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 816 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCTTTGTTCCGATGGGAATAC 0.438 44 69 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35166938 35166938 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:35166938C>T uc001ziv.2 - 29 3546 c.3365G>A c.(3364-3366)CGC>CAC p.R1122H NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1122 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GCGAACAAAGCGAGTGAAGAG 0.433 5 146 --- --- --- --- PASS C15orf21 283651 broad.mit.edu 37 15 45848168 45848168 + RNA SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:45848168G>C uc010beg.1 + 6 c.1163G>C C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA Homo sapiens cDNA FLJ39426 fis, clone PROST2000505. 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;3.03e-17)|GBM - Glioblastoma multiforme(94;7.36e-07) TACTTCTGGTGACTGTACAGT 0.323 T ETV1 prostate 26 58 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50212548 50212548 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:50212548C>A uc001zxu.2 - 18 1960 c.1818G>T c.(1816-1818)AAG>AAT p.K606N ATP8B4_uc010ber.2_Missense_Mutation_p.K479N|ATP8B4_uc010ufd.1_Missense_Mutation_p.K416N|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 606 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTTTAAAGTACTTGTCATCCA 0.448 38 75 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50549709 50549709 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:50549709G>A uc001zxz.2 - 4 460 c.354C>T c.(352-354)AAC>AAT p.N118N HDC_uc010uff.1_Silent_p.N118N|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Silent_p.N118N NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 118 N -> M (in Ref. 3; no nucleotide entry). catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AGTCCATGACGTTCATCTCCA 0.597 45 81 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52718104 52718104 + Silent SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:52718104T>A uc002aby.2 - 4 622 c.378A>T c.(376-378)GCA>GCT p.A126A MYO5A_uc002abx.3_Silent_p.A126A|MYO5A_uc010uge.1_5'UTR NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 126 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GACCACTGTATGCATTAATAA 0.398 38 82 --- --- --- --- PASS PPIB 5479 broad.mit.edu 37 15 64449012 64449012 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:64449012G>C uc002and.2 - 4 609 c.440C>G c.(439-441)ACC>AGC p.T147S SNX22_uc002anc.1_3'UTR NM_000942 NP_000933 P23284 PPIB_HUMAN peptidylprolyl isomerase B precursor 147 PPIase cyclophilin-type. protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding 0 L-Proline(DB00172) GGAGCCGTTGGTGTCTTTGCC 0.547 5 140 --- --- --- --- PASS TLE3 7090 broad.mit.edu 37 15 70351006 70351006 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:70351006C>G uc002asm.2 - 11 2033 c.914G>C c.(913-915)GGT>GCT p.G305A TLE3_uc002ask.2_Missense_Mutation_p.G249A|TLE3_uc002asl.2_Missense_Mutation_p.G310A|TLE3_uc010ukd.1_Missense_Mutation_p.G298A|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.G305A|TLE3_uc002asn.2_Missense_Mutation_p.G305A|TLE3_uc002asp.2_Missense_Mutation_p.G305A|TLE3_uc002aso.2_Missense_Mutation_p.G305A NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 305 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 ACATACATGACCAAGGTCTTT 0.498 3 7 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 90996157 90996157 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr15:90996157G>A uc002bpl.1 + 12 1414 c.1313G>A c.(1312-1314)CGA>CAA p.R438Q NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 438 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) ACCCTGCAGCGACAAAGTCCT 0.502 3 47 --- --- --- --- PASS ZNF200 7752 broad.mit.edu 37 16 3274470 3274470 + Nonsense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr16:3274470G>A uc002cuj.2 - 5 1242 c.610C>T c.(610-612)CGA>TGA p.R204* ZNF200_uc002cum.3_Nonsense_Mutation_p.R203*|ZNF200_uc010bti.2_Nonsense_Mutation_p.R203*|ZNF200_uc002cuk.2_Nonsense_Mutation_p.R204*|ZNF200_uc002cui.2_Nonsense_Mutation_p.R203*|ZNF200_uc002cul.3_Nonsense_Mutation_p.R203* NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 GTATTTAGTCGTTCCTTTTCC 0.368 72 107 --- --- --- --- PASS SYT17 51760 broad.mit.edu 37 16 19236095 19236095 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr16:19236095A>G uc002dfw.2 + 7 1494 c.1163A>G c.(1162-1164)TAC>TGC p.Y388C SYT17_uc002dfx.2_Missense_Mutation_p.Y327C|SYT17_uc002dfy.2_Missense_Mutation_p.Y384C|SYT17_uc002dfv.1_Missense_Mutation_p.Y327C NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN B/K protein 388 C2 2. membrane|synaptic vesicle transporter activity ovary(1) 1 GATCCTTTCTACAATGAATCC 0.433 74 100 --- --- --- --- PASS RPGRIP1L 23322 broad.mit.edu 37 16 53636053 53636053 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr16:53636053T>C uc002ehp.2 - 27 3947 c.3883A>G c.(3883-3885)ACA>GCA p.T1295A RPGRIP1L_uc002eho.3_Missense_Mutation_p.T1215A|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.T1249A|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.T1261A NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 1295 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GCTTCGACTGTTACCCTGAGC 0.453 41 76 --- --- --- --- PASS CMTM2 146225 broad.mit.edu 37 16 66620911 66620911 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr16:66620911C>T uc002ept.2 + 3 616 c.456C>T c.(454-456)AAC>AAT p.N152N CMTM2_uc010cdu.2_Silent_p.N99N NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 152 MARVEL.|Helical; (Potential). chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) ACCTCTTCAACGACCTGATTG 0.527 51 74 --- --- --- --- PASS PDP2 57546 broad.mit.edu 37 16 66918558 66918558 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr16:66918558G>C uc002eqk.1 + 2 533 c.371G>C c.(370-372)CGA>CCA p.R124P NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 124 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GAGGACCGGCGAGGTGTAGCC 0.537 20 57 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84271000 84271000 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr16:84271000A>G uc010voc.1 - 2 213 c.92T>C c.(91-93)ATG>ACG p.M31T KCNG4_uc002fhu.1_Missense_Mutation_p.M31T NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 31 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CGGCGTCTCCATGGGGCTGGA 0.612 36 60 --- --- --- --- PASS ABR 29 broad.mit.edu 37 17 910478 910478 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:910478C>A uc002fsd.2 - 22 2527 c.2417G>T c.(2416-2418)AGA>ATA p.R806I ABR_uc002fse.2_Missense_Mutation_p.R760I|ABR_uc010vqf.1_Missense_Mutation_p.R257I|ABR_uc010vqg.1_Missense_Mutation_p.R588I|ABR_uc002fsg.2_Missense_Mutation_p.R769I|ABR_uc002fsf.2_Missense_Mutation_p.R343I NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 806 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TTCTGAGGGTCTCAGTAACGT 0.582 4 94 --- --- --- --- PASS NLRP1 22861 broad.mit.edu 37 17 5433898 5433898 + Silent SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:5433898T>C uc002gci.2 - 12 3978 c.3423A>G c.(3421-3423)CCA>CCG p.P1141P NLRP1_uc002gcg.1_Silent_p.P1145P|NLRP1_uc002gck.2_Silent_p.P1141P|NLRP1_uc002gcj.2_Silent_p.P1111P|NLRP1_uc002gcl.2_Silent_p.P1111P|NLRP1_uc002gch.3_Silent_p.P1141P|NLRP1_uc010clh.2_Silent_p.P1141P NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1141 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) AGCTGTGCTGTGGGTTGATCT 0.572 33 76 --- --- --- --- PASS ZBTB4 57659 broad.mit.edu 37 17 7367112 7367112 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:7367112T>A uc002ghc.3 - 4 1439 c.1189A>T c.(1189-1191)AGT>TGT p.S397C ZBTB4_uc002ghd.3_Missense_Mutation_p.S397C NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GTCTTCTCACTGGCAAGGAGG 0.567 143 57 --- --- --- --- PASS ZBTB4 57659 broad.mit.edu 37 17 7367123 7367123 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:7367123C>A uc002ghc.3 - 4 1428 c.1178G>T c.(1177-1179)GGC>GTC p.G393V ZBTB4_uc002ghd.3_Missense_Mutation_p.G393V NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GGCAAGGAGGCCCGGGCTAAT 0.582 142 55 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G A A rs121913343 TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 45 16 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7667312 7667312 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:7667312C>T uc002giu.1 + 18 3156 c.3142C>T c.(3142-3144)CTG>TTG p.L1048L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1048 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGGCGCCTCCTGGAGCTGCA 0.627 36 61 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9923208 9923208 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:9923208C>T uc002gmg.1 - 2 351 c.190G>A c.(190-192)GGA>AGA p.G64R GAS7_uc010vvd.1_Missense_Mutation_p.G16R|GAS7_uc002gmi.2_5'UTR|GAS7_uc002gmj.1_Missense_Mutation_p.G4R|GAS7_uc010coh.1_Missense_Mutation_p.G4R NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 64 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 GGGACCATTCCAGGCTTCTGT 0.527 T MLL AML* 39 59 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10441034 10441034 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:10441034G>T uc010coi.2 - 15 1663 c.1535C>A c.(1534-1536)ACG>AAG p.T512K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T512K|MYH2_uc010coj.2_Missense_Mutation_p.T512K NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 512 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GTCGATGAACGTCCACTCGAT 0.473 86 177 --- --- --- --- PASS COPS3 8533 broad.mit.edu 37 17 17168116 17168116 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:17168116C>A uc002grd.2 - 6 712 c.621G>T c.(619-621)CAG>CAT p.Q207H COPS3_uc010vwv.1_Missense_Mutation_p.Q187H|COPS3_uc010vww.1_Missense_Mutation_p.Q77H NM_003653 NP_003644 Q9UNS2 CSN3_HUMAN COP9 constitutive photomorphogenic homolog 207 PCI. cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding skin(1) 1 GAGAGATTACCTGTTCATAAA 0.403 4 133 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21318885 21318885 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:21318885C>G uc002gyv.1 + 3 936 c.231C>G c.(229-231)GAC>GAG p.D77E NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 77 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCTGTGTGGACATCCGCTGGC 0.572 Prostate(3;0.18) 3 69 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319631 21319631 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:21319631G>T uc002gyv.1 + 3 1682 c.977G>T c.(976-978)CGC>CTC p.R326L NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 326 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TGGGGTCACCGCTTTGAGCCC 0.587 Prostate(3;0.18) 23 212 --- --- --- --- PASS MYO18A 399687 broad.mit.edu 37 17 27447713 27447713 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:27447713T>C uc002hdt.1 - 7 1807 c.1649A>G c.(1648-1650)AAT>AGT p.N550S MYO18A_uc010wbc.1_Missense_Mutation_p.N92S|MYO18A_uc002hds.2_Missense_Mutation_p.N92S|MYO18A_uc010csa.1_Missense_Mutation_p.N550S|MYO18A_uc002hdu.1_Missense_Mutation_p.N550S|MYO18A_uc010wbd.1_Missense_Mutation_p.N219S NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 550 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGCATTGCCATTAATGATGGT 0.577 6 85 --- --- --- --- PASS SSH2 85464 broad.mit.edu 37 17 27958425 27958425 + Missense_Mutation SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:27958425T>C uc002heo.1 - 15 3706 c.3706A>G c.(3706-3708)AAA>GAA p.K1236E SSH2_uc010wbh.1_Missense_Mutation_p.K1263E NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1236 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TCGATTTCTTTAGCACGCTCC 0.517 43 79 --- --- --- --- PASS SLFN11 91607 broad.mit.edu 37 17 33679610 33679610 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:33679610T>A uc010ctp.2 - 7 2913 c.2471A>T c.(2470-2472)TAT>TTT p.Y824F SLFN11_uc010ctq.2_Missense_Mutation_p.Y824F|SLFN11_uc002hjh.3_Missense_Mutation_p.Y824F|SLFN11_uc002hjg.3_Missense_Mutation_p.Y824F|SLFN11_uc010ctr.2_Missense_Mutation_p.Y824F NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 824 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAAGAGCTCATACTTATAGTG 0.483 39 79 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42478442 42478442 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:42478442C>A uc002igw.1 - 8 1067 c.1003G>T c.(1003-1005)GAT>TAT p.D335Y GPATCH8_uc002igv.1_Missense_Mutation_p.D257Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.D257Y NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 335 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CTCTTCTCATCGGGTTTTGTT 0.458 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 100 155 --- --- --- --- PASS FZD2 2535 broad.mit.edu 37 17 42635963 42635963 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:42635963C>T uc002igx.1 + 1 1039 c.907C>T c.(907-909)CGC>TGC p.R303C NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 303 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCTCCAGGAGCGCGTGGTGTG 0.607 25 47 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57724840 57724840 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:57724840G>T uc002ixq.1 + 3 775 c.332G>T c.(331-333)TGG>TTG p.W111L CLTC_uc002ixp.2_Missense_Mutation_p.W111L|CLTC_uc002ixr.1_Missense_Mutation_p.W115L NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 111 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GTCACCTTTTGGAAATGGATC 0.368 T ALK|TFE3 ALCL|renal 4 187 --- --- --- --- PASS NACA2 342538 broad.mit.edu 37 17 59668102 59668102 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:59668102C>G uc002izj.2 - 1 466 c.440G>C c.(439-441)GGT>GCT p.G147A NM_199290 NP_954984 Q9H009 NACA2_HUMAN nascent-polypeptide-associated complex alpha 147 protein transport cytoplasm|nucleus ovary(1) 1 all_epithelial(1;3.12e-14) GACAGCTTCACCTTGAACTCT 0.453 142 224 --- --- --- --- PASS CCDC57 284001 broad.mit.edu 37 17 80059581 80059581 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr17:80059581G>C uc002kdx.1 - 17 2762 c.2725C>G c.(2725-2727)CGT>GGT p.R909G NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 910 ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TTGTAGTTACGGATCTTGGGG 0.602 70 152 --- --- --- --- PASS MYO1F 4542 broad.mit.edu 37 19 8601932 8601932 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:8601932G>T uc002mkg.2 - 17 1814 c.1700C>A c.(1699-1701)GCC>GAC p.A567D NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 567 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 caggtcgttggcttgtttctg 0.244 16 6 --- --- --- --- PASS OLFM2 93145 broad.mit.edu 37 19 9968059 9968059 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:9968059T>A uc002mmp.2 - 4 488 c.460A>T c.(460-462)AGG>TGG p.R154W OLFM2_uc002mmo.2_Missense_Mutation_p.R76W NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 154 Potential. extracellular region large_intestine(1)|skin(1) 2 GAGAGATTCCTCACCTCCTCC 0.627 49 18 --- --- --- --- PASS ZNF490 57474 broad.mit.edu 37 19 12691342 12691342 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:12691342G>A uc002mtz.2 - 5 1676 c.1547C>T c.(1546-1548)TCT>TTT p.S516F NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 516 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACGTGCAAAGACTTTGAGTA 0.388 124 54 --- --- --- --- PASS SLC1A6 6511 broad.mit.edu 37 19 15061013 15061013 + Silent SNP A T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:15061013A>T uc002naa.1 - 9 1697 c.1689T>A c.(1687-1689)GCT>GCA p.A563A SLC1A6_uc010dzu.1_Silent_p.A485A|SLC1A6_uc010xod.1_Silent_p.A499A NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 563 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CCCCTCACATAGCACTCTCGT 0.647 19 9 --- --- --- --- PASS EIF3K 27335 broad.mit.edu 37 19 39114783 39114783 + Silent SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:39114783C>T uc002oiz.1 + 3 412 c.225C>T c.(223-225)ACC>ACT p.T75T EIF3K_uc010xuh.1_Silent_p.T75T|EIF3K_uc010xui.1_5'UTR NM_013234 NP_037366 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, 75 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGCCCTCACCAACTTGCCGC 0.577 58 63 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48643270 48643270 + Missense_Mutation SNP C G G rs3730947 byFrequency TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:48643270C>G uc002pia.1 - 12 1165 c.1045G>C c.(1045-1047)GTG>CTG p.V349L LIG1_uc010xze.1_Missense_Mutation_p.V42L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V281L|LIG1_uc010xzg.1_Missense_Mutation_p.V318L|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 349 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCATCACCCACGCCAAGCTCC 0.642 NER 57 132 --- --- --- --- PASS KLK6 5653 broad.mit.edu 37 19 51471320 51471320 + Splice_Site SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:51471320C>A uc002pui.2 - 3 300 c.40_splice c.e3+1 p.A14_splice KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Intron|KLK6_uc002puj.2_Intron|KLK6_uc010ycn.1_Splice_Site|KLK6_uc002pul.2_Splice_Site_p.A14_splice|KLK6_uc002pum.2_Splice_Site NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) CCTTTCCCCACCTGCAGCAAT 0.423 37 90 --- --- --- --- PASS ZNF528 84436 broad.mit.edu 37 19 52919741 52919741 + Nonsense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:52919741G>T uc002pzh.2 + 7 2062 c.1636G>T c.(1636-1638)GAG>TAG p.E546* ZNF528_uc002pzi.2_Nonsense_Mutation_p.E313* NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCATACTGGAGAGAGGCCTTA 0.388 32 60 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53959562 53959562 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:53959562A>G uc010eqp.2 + 7 2259 c.1801A>G c.(1801-1803)ACT>GCT p.T601A ZNF761_uc010ydy.1_Missense_Mutation_p.T547A|ZNF761_uc002qbt.1_Missense_Mutation_p.T547A NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) GAAAATTCATACTGAAGAGAA 0.403 76 90 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701255 56701255 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr19:56701255G>T uc010ygh.1 - 4 1429 c.1429C>A c.(1429-1431)CGT>AGT p.R477S NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 477 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CCCAGCTGACGGAAGGCCTTT 0.557 30 47 --- --- --- --- PASS CDC25B 994 broad.mit.edu 37 20 3778334 3778334 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:3778334C>A uc002wjn.2 + 2 1044 c.266C>A c.(265-267)TCC>TAC p.S89Y CDC25B_uc010zqk.1_Missense_Mutation_p.S25Y|CDC25B_uc010zql.1_Missense_Mutation_p.S11Y|CDC25B_uc010zqm.1_Missense_Mutation_p.S25Y|CDC25B_uc002wjl.2_5'UTR|CDC25B_uc002wjm.2_5'UTR|CDC25B_uc002wjo.2_Missense_Mutation_p.S75Y|CDC25B_uc002wjp.2_Missense_Mutation_p.S89Y|CDC25B_uc002wjq.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 89 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 ACGCACCTATCCCTGTCTCGA 0.617 23 106 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21689252 21689252 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:21689252G>A uc002wsj.2 + 3 1027 c.973G>A c.(973-975)GGC>AGC p.G325S PAX1_uc010zsl.1_Missense_Mutation_p.G325S|PAX1_uc010zsm.1_Missense_Mutation_p.G301S NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 325 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 AGACTGGGCCGGCGTGAACCG 0.597 47 65 --- --- --- --- PASS RBL1 5933 broad.mit.edu 37 20 35684596 35684596 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:35684596C>T uc002xgi.2 - 10 1395 c.1316G>A c.(1315-1317)TGT>TAT p.C439Y RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.C439Y|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 439 Domain A.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) ATAGTGTTGACAGAAAGTCTC 0.363 15 62 --- --- --- --- PASS DHX35 60625 broad.mit.edu 37 20 37620141 37620141 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:37620141G>T uc002xjh.2 + 6 506 c.495G>T c.(493-495)CCG>CCT p.P165P DHX35_uc010zwa.1_Silent_p.P10P|DHX35_uc010zwb.1_Silent_p.P10P|DHX35_uc010zwc.1_Silent_p.P134P NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 165 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGGTTGATCCGTTGTTAACAA 0.353 28 67 --- --- --- --- PASS RIMS4 140730 broad.mit.edu 37 20 43386757 43386757 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:43386757G>T uc002xms.2 - 3 305 c.305C>A c.(304-306)CCG>CAG p.P102Q RIMS4_uc010ggu.2_Missense_Mutation_p.P103Q NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 102 exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) AAACTGTGCCGGCCCCATGCT 0.582 25 67 --- --- --- --- PASS EYA2 2139 broad.mit.edu 37 20 45801445 45801445 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:45801445G>T uc002xsm.2 + 12 1502 c.1128G>T c.(1126-1128)TGG>TGT p.W376C EYA2_uc010ghp.2_Missense_Mutation_p.W376C|EYA2_uc002xsn.2_Missense_Mutation_p.W381C|EYA2_uc002xso.2_Missense_Mutation_p.W376C|EYA2_uc002xsp.2_Missense_Mutation_p.W376C|EYA2_uc002xsq.2_Missense_Mutation_p.W346C NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 376 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) GCGTGGACTGGATGAGGAAGC 0.612 41 48 --- --- --- --- PASS KRTAP13-4 284827 broad.mit.edu 37 21 31802908 31802908 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr21:31802908G>T uc011acw.1 + 1 315 c.315G>T c.(313-315)CTG>CTT p.L105L NM_181600 NP_853631 Q3LI77 KR134_HUMAN keratin associated protein 13-4 105 intermediate filament 0 GCTACTCGCTGGGAAATGGAT 0.527 22 31 --- --- --- --- PASS SYNJ1 8867 broad.mit.edu 37 21 34025600 34025600 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr21:34025600C>G uc002yqh.2 - 22 2989 c.2989G>C c.(2989-2991)GAG>CAG p.E997Q SYNJ1_uc011ads.1_Missense_Mutation_p.E953Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.E958Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.E953Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.E997Q NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 958 RRM.|Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TACCTTACCTCTTTACCATTT 0.323 39 81 --- --- --- --- PASS LSS 4047 broad.mit.edu 37 21 47627403 47627403 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr21:47627403T>A uc002zij.2 - 15 1485 c.1406A>T c.(1405-1407)GAG>GTG p.E469V LSS_uc011afv.1_Missense_Mutation_p.E458V|LSS_uc002zil.2_Missense_Mutation_p.E469V|LSS_uc002zik.2_Missense_Mutation_p.E389V NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 469 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) GGGACACTTCTCCTGCAGGAG 0.612 12 16 --- --- --- --- PASS CABIN1 23523 broad.mit.edu 37 22 24573530 24573530 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr22:24573530G>A uc002zzi.1 + 36 6391 c.6264G>A c.(6262-6264)GAG>GAA p.E2088E CABIN1_uc002zzj.1_Silent_p.E2009E|CABIN1_uc002zzl.1_Silent_p.E2088E|CABIN1_uc010gul.1_Silent_p.E26E NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2088 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CTGCGAGTGAGACTCAGCCCC 0.642 19 102 --- --- --- --- PASS CABIN1 23523 broad.mit.edu 37 22 24574123 24574123 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr22:24574123G>A uc002zzi.1 + 37 6749 c.6622G>A c.(6622-6624)GAG>AAG p.E2208K CABIN1_uc002zzj.1_Missense_Mutation_p.E2129K|CABIN1_uc002zzl.1_Missense_Mutation_p.E2208K|CABIN1_uc010gul.1_Missense_Mutation_p.E146K NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2208 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GTCCTCGCTGGAGAGCGAGAC 0.632 10 105 --- --- --- --- PASS CABIN1 23523 broad.mit.edu 37 22 24574135 24574135 + Missense_Mutation SNP G C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr22:24574135G>C uc002zzi.1 + 37 6761 c.6634G>C c.(6634-6636)GAC>CAC p.D2212H CABIN1_uc002zzj.1_Missense_Mutation_p.D2133H|CABIN1_uc002zzl.1_Missense_Mutation_p.D2212H|CABIN1_uc010gul.1_Missense_Mutation_p.D150H NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2212 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GAGCGAGACAGACGAGGACGA 0.602 9 85 --- --- --- --- PASS SUSD2 56241 broad.mit.edu 37 22 24580888 24580888 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr22:24580888C>A uc002zzn.1 + 5 806 c.762C>A c.(760-762)AGC>AGA p.S254R NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 254 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TCATCGACAGCAAAAATTACG 0.592 15 58 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42607579 42607579 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr22:42607579G>T uc003bcj.1 - 1 3867 c.3733C>A c.(3733-3735)CAT>AAT p.H1245N TCF20_uc003bck.1_Missense_Mutation_p.H1245N|TCF20_uc003bnt.2_Missense_Mutation_p.H1245N NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TGAGAAGAATGATCCTCCTGG 0.483 4 126 --- --- --- --- PASS PARVG 64098 broad.mit.edu 37 22 44585083 44585083 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr22:44585083G>A uc011aqe.1 + 6 761 c.337G>A c.(337-339)GTG>ATG p.V113M PARVG_uc003bep.2_Missense_Mutation_p.V113M|PARVG_uc011aqf.1_Missense_Mutation_p.V113M|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 113 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) GCTGGAGGCCGTGAACCGGAG 0.657 22 50 --- --- --- --- PASS SHROOM2 357 broad.mit.edu 37 X 9864198 9864198 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:9864198C>A uc004csu.1 + 4 2340 c.2250C>A c.(2248-2250)GGC>GGA p.G750G NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 750 ASD1. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GCATCGGAGGCCGGAGACGGT 0.637 11 20 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17739652 17739652 + Missense_Mutation SNP A G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:17739652A>G uc004cxx.2 + 4 1282 c.944A>G c.(943-945)CAG>CGG p.Q315R NHS_uc011mix.1_Missense_Mutation_p.Q336R|NHS_uc004cxy.2_Missense_Mutation_p.Q159R|NHS_uc004cxz.2_Missense_Mutation_p.Q138R|NHS_uc004cya.2_Missense_Mutation_p.Q38R NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 315 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CTGGACAAGCAGACCAACTGG 0.473 39 94 --- --- --- --- PASS APOO 79135 broad.mit.edu 37 X 23886727 23886727 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:23886727C>A uc004dax.2 - 5 602 c.371G>T c.(370-372)GGA>GTA p.G124V APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA NM_024122 NP_077027 Q9BUR5 APOO_HUMAN apolipoprotein O precursor 124 Helical; (Potential). lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle 0 CAAAAGGAGTCCAATAAGGCC 0.299 29 54 --- --- --- --- PASS APOO 79135 broad.mit.edu 37 X 23886748 23886748 + Missense_Mutation SNP A C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:23886748A>C uc004dax.2 - 5 581 c.350T>G c.(349-351)ATT>AGT p.I117S APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA NM_024122 NP_077027 Q9BUR5 APOO_HUMAN apolipoprotein O precursor 117 Helical; (Potential). lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle 0 AGCAAAACCAATAACACCAAG 0.333 30 56 --- --- --- --- PASS KLHL15 80311 broad.mit.edu 37 X 24006149 24006149 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:24006149G>T uc004dba.3 - 4 1960 c.1704C>A c.(1702-1704)AAC>AAA p.N568K NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 568 Kelch 5. ovary(1)|breast(1) 2 CCTTCCACTTGTTTTCATCCG 0.458 99 127 --- --- --- --- PASS DYNLT3 6990 broad.mit.edu 37 X 37699873 37699873 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:37699873G>T uc004dds.2 - 5 432 c.306C>A c.(304-306)ACC>ACA p.T102T NM_006520 NP_006511 P51808 DYLT3_HUMAN dynein, light chain, Tctex-type 3 102 cell division|mitosis|regulation of mitotic cell cycle|transport condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane motor activity 0 TACAGTTCATGGTCCGGTTCT 0.328 23 27 --- --- --- --- PASS WAS 7454 broad.mit.edu 37 X 48549500 48549500 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:48549500G>A uc004dkm.3 + 12 1513 c.1456G>A c.(1456-1458)GAA>AAA p.E486K NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 486 Asp/Glu-rich (acidic). blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) CCCTCCAGACGAAGGGGAGGA 0.582 Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 18 61 --- --- --- --- PASS GRIPAP1 56850 broad.mit.edu 37 X 48837632 48837632 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:48837632C>T uc004dly.1 - 21 1960 c.1925G>A c.(1924-1926)CGC>CAC p.R642H GRIPAP1_uc004dlz.2_Missense_Mutation_p.R532H|GRIPAP1_uc004dma.2_Missense_Mutation_p.R563H NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 642 early endosome breast(2)|kidney(1) 3 CTCACCTGAGCGGCTCTTGCT 0.612 10 23 --- --- --- --- PASS TFE3 7030 broad.mit.edu 37 X 48891648 48891648 + Splice_Site SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:48891648C>A uc004dmb.3 - 6 1241 c.1003_splice c.e6+1 p.E335_splice TFE3_uc004dmc.3_Splice_Site_p.E230_splice|TFE3_uc004dme.1_Splice_Site NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 CTATCACCTACCAGAGATCTC 0.562 T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 16 33 --- --- --- --- PASS TFE3 7030 broad.mit.edu 37 X 48891649 48891649 + Missense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:48891649C>T uc004dmb.3 - 6 1241 c.1003G>A c.(1003-1005)GAG>AAG p.E335K TFE3_uc004dmc.3_Missense_Mutation_p.E230K|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 335 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 TATCACCTACCAGAGATCTCC 0.562 T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 16 35 --- --- --- --- PASS PLP2 5355 broad.mit.edu 37 X 49029810 49029810 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:49029810C>A uc004dmx.2 + 3 400 c.325C>A c.(325-327)CAC>AAC p.H109N NM_002668 NP_002659 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic 109 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity 0 GAGAGGAAACCACTCCAAAAT 0.532 39 64 --- --- --- --- PASS KDM5C 8242 broad.mit.edu 37 X 53250047 53250047 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:53250047G>T uc004drz.2 - 2 735 c.202C>A c.(202-204)CGA>AGA p.R68R KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.R68R NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 68 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 CTCTGGATTCGGGGGGTAAAC 0.403 N|F|S clear cell renal carcinoma 3 65 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54956998 54956998 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:54956998G>T uc004dtq.2 + 12 3948 c.3841G>T c.(3841-3843)GGT>TGT p.G1281C TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G812C|TRO_uc004dtw.2_Missense_Mutation_p.G884C|TRO_uc004dtx.2_Missense_Mutation_p.G664C NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1281 62 X 10 AA approximate tandem repeats.|48. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TGGCTTTGGTGGTGGACTGGT 0.602 41 68 --- --- --- --- PASS FAM104B 90736 broad.mit.edu 37 X 55172681 55172681 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:55172681G>T uc004duh.1 - 3 204 c.184C>A c.(184-186)CCA>ACA p.P62T FAM104B_uc004dug.1_Missense_Mutation_p.P63T|FAM104B_uc004dui.3_Missense_Mutation_p.P63T NM_138362 NP_612371 Q5XKR9 F104B_HUMAN hypothetical protein LOC90736 62 0 TTGCCTTCTGGTCCACTTGCT 0.443 60 105 --- --- --- --- PASS ARHGEF9 23229 broad.mit.edu 37 X 62917068 62917068 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:62917068C>A uc004dvl.2 - 4 1337 c.498G>T c.(496-498)CTG>CTT p.L166L ARHGEF9_uc004dvj.1_Silent_p.L55L|ARHGEF9_uc004dvk.1_Silent_p.L28L|ARHGEF9_uc011mos.1_Silent_p.L145L|ARHGEF9_uc004dvm.1_Silent_p.L145L|ARHGEF9_uc011mot.1_Silent_p.L113L|ARHGEF9_uc004dvn.2_Silent_p.L173L NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 166 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 ACTGTTTCTCCAGGTCTCTCA 0.468 28 38 --- --- --- --- PASS ZC3H12B 340554 broad.mit.edu 37 X 64723017 64723017 + Silent SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:64723017G>A uc010nko.2 + 5 2415 c.2406G>A c.(2404-2406)GAG>GAA p.E802E NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 802 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CAGTGATGGAGAAGAATCCCC 0.448 19 45 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65417678 65417678 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:65417678G>A uc011moz.1 + 10 1724 c.1664G>A c.(1663-1665)GGC>GAC p.G555D HEPH_uc004dwn.2_Missense_Mutation_p.G555D|HEPH_uc004dwo.2_Missense_Mutation_p.G285D|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.G555D NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 552 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 ACAAATTCTGGCCTGGTGGGC 0.577 18 29 --- --- --- --- PASS SLC7A3 84889 broad.mit.edu 37 X 70145715 70145715 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:70145715C>G uc004dyn.2 - 12 1966 c.1808G>C c.(1807-1809)AGA>ACA p.R603T SLC7A3_uc004dyo.2_Missense_Mutation_p.R603T NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 603 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGTTTTGGCTCTAGACTTGCG 0.498 44 83 --- --- --- --- PASS ACRC 93953 broad.mit.edu 37 X 70823555 70823555 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:70823555G>A uc004eae.2 + 8 929 c.428G>A c.(427-429)AGT>AAT p.S143N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 143 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GACGACAACAGTGATGATTCA 0.473 5 349 --- --- --- --- PASS ZDHHC15 158866 broad.mit.edu 37 X 74742797 74742797 + Silent SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:74742797G>T uc004ecg.2 - 1 541 c.63C>A c.(61-63)TCC>TCA p.S21S ZDHHC15_uc004ech.2_Silent_p.S21S|ZDHHC15_uc011mqo.1_RNA|ZDHHC15_uc004eci.2_Silent_p.S21S NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 21 Helical; (Potential). integral to membrane zinc ion binding ovary(2) 2 CTGGCACCCAGGACAGTACCC 0.622 23 48 --- --- --- --- PASS ZDHHC15 158866 broad.mit.edu 37 X 74742798 74742798 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:74742798G>T uc004ecg.2 - 1 540 c.62C>A c.(61-63)TCC>TAC p.S21Y ZDHHC15_uc004ech.2_Missense_Mutation_p.S21Y|ZDHHC15_uc011mqo.1_RNA|ZDHHC15_uc004eci.2_Missense_Mutation_p.S21Y NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 21 Helical; (Potential). integral to membrane zinc ion binding ovary(2) 2 TGGCACCCAGGACAGTACCCG 0.622 22 48 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177357 89177357 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:89177357T>A uc004efe.2 + 2 322 c.273T>A c.(271-273)AAT>AAA p.N91K NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 91 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGAAGACCAATTTGTCTTTGT 0.473 19 282 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177358 89177358 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:89177358T>A uc004efe.2 + 2 323 c.274T>A c.(274-276)TTG>ATG p.L92M NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 92 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GAAGACCAATTTGTCTTTGTT 0.468 18 283 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177376 89177376 + Missense_Mutation SNP T A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:89177376T>A uc004efe.2 + 2 341 c.292T>A c.(292-294)TCT>ACT p.S98T NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 98 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GTTGCAGATTTCTAACTGGTT 0.473 111 209 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105153117 105153117 + Missense_Mutation SNP C G G TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:105153117C>G uc004emd.2 + 13 1787 c.1484C>G c.(1483-1485)TCC>TGC p.S495C NRK_uc010npc.1_Missense_Mutation_p.S163C NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 495 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CAGGTACAGTCCCAGGTATCC 0.542 HNSCC(51;0.14) 32 53 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105178435 105178435 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:105178435C>A uc004emd.2 + 20 3801 c.3498C>A c.(3496-3498)ATC>ATA p.I1166I NRK_uc010npc.1_Silent_p.I834I NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1166 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CCAGTGCCATCTGTGAGTGTG 0.368 HNSCC(51;0.14) 4 138 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107402738 107402738 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:107402738C>A uc004enw.3 - 44 4872 c.4769G>T c.(4768-4770)TGC>TTC p.C1590F COL4A6_uc004env.3_Missense_Mutation_p.C1589F|COL4A6_uc011msn.1_Missense_Mutation_p.C1565F|COL4A6_uc010npk.2_Missense_Mutation_p.C1532F|COL4A6_uc011msm.1_Missense_Mutation_p.C124F|COL4A6_uc010npj.2_Missense_Mutation_p.C69F NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1590 Collagen IV NC1. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GCCCAGGGGGCACTGCGGGAT 0.612 Alport_syndrome_with_Diffuse_Leiomyomatosis 28 65 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107431174 107431174 + Silent SNP T C C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:107431174T>C uc004enw.3 - 22 1777 c.1674A>G c.(1672-1674)GGA>GGG p.G558G COL4A6_uc004env.3_Silent_p.G557G|COL4A6_uc011msn.1_Silent_p.G557G|COL4A6_uc010npk.2_Silent_p.G557G NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 558 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CACCCCGATCTCCTGGCATTC 0.537 Alport_syndrome_with_Diffuse_Leiomyomatosis 77 182 --- --- --- --- PASS ACSL4 2182 broad.mit.edu 37 X 108921307 108921307 + Missense_Mutation SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:108921307C>A uc004eoi.2 - 9 1468 c.963G>T c.(961-963)TTG>TTT p.L321F ACSL4_uc004eoj.2_Missense_Mutation_p.L280F|ACSL4_uc004eok.2_Missense_Mutation_p.L280F|ACSL4_uc010npp.1_Missense_Mutation_p.L321F NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 321 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) GCACATGAGCCAAAGGCAAGT 0.388 36 83 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123787591 123787591 + Missense_Mutation SNP A T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:123787591A>T uc004euj.2 - 7 1275 c.1211T>A c.(1210-1212)ATT>AAT p.I404N ODZ1_uc011muj.1_Missense_Mutation_p.I403N|ODZ1_uc010nqy.2_Missense_Mutation_p.I404N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 404 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 CTGTGCACCAATGTCAACTTC 0.388 69 155 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123839017 123839017 + Silent SNP C A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:123839017C>A uc004euj.2 - 5 925 c.861G>T c.(859-861)GTG>GTT p.V287V ODZ1_uc011muj.1_Silent_p.V287V|ODZ1_uc010nqy.2_Silent_p.V287V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 287 Teneurin N-terminal.|Cytoplasmic (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 GGGGCGAGTACACGGTATTGG 0.507 67 139 --- --- --- --- PASS GPC3 2719 broad.mit.edu 37 X 132888123 132888123 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:132888123G>T uc004exe.1 - 3 608 c.418C>A c.(418-420)CAA>AAA p.Q140K GPC3_uc004exd.1_Missense_Mutation_p.Q12K|GPC3_uc010nrn.1_Missense_Mutation_p.Q140K|GPC3_uc011mvh.1_Missense_Mutation_p.Q124K|GPC3_uc010nro.1_Missense_Mutation_p.Q86K|GPC3_uc010nrp.1_Missense_Mutation_p.Q12K NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 140 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) TCAAAAGCTTGTGGAGTCAGG 0.388 T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 82 161 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135474460 135474460 + Nonsense_Mutation SNP C T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:135474460C>T uc004ezu.1 + 17 8272 c.7981C>T c.(7981-7983)CAA>TAA p.Q2661* GPR112_uc010nsb.1_Nonsense_Mutation_p.Q2456* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2661 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TATGTTCATTCAAAACTTAGC 0.403 49 104 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138630608 138630608 + Missense_Mutation SNP G A A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:138630608G>A uc004fas.1 + 5 507 c.478G>A c.(478-480)GGA>AGA p.G160R F9_uc004fat.1_Missense_Mutation_p.G122R NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 160 EGF-like 2. G -> E (in HEMB; mild). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CTGTACTGAGGGATATCGACT 0.358 17 104 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142716937 142716937 + Missense_Mutation SNP G T T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chrX:142716937G>T uc004fbx.2 - 2 2364 c.1988C>A c.(1987-1989)TCC>TAC p.S663Y SLITRK4_uc004fby.2_Missense_Mutation_p.S663Y NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 663 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAGCTGCATGGAGCCACAGTC 0.458 69 185 --- --- --- --- PASS NEUROG1 4762 broad.mit.edu 37 5 134871202 134871202 + Frame_Shift_Del DEL T - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr5:134871202delT uc003lax.2 - 1 438 c.179delA c.(178-180)GAGfs p.E60fs NM_006161 NP_006152 Q92886 NGN1_HUMAN neurogenin 1 60 positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter nucleus chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCCTGGAACCTCAGACGCCCG 0.582 4 2 --- --- --- --- CNR1 1268 broad.mit.edu 37 6 88854114 88854123 + Frame_Shift_Del DEL ACGCATACAC - - rs35057475 TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr6:88854114_88854123delACGCATACAC uc011dzq.1 - 2 4434_4443 c.871_880delGTGTATGCGT c.(871-882)GTGTATGCGTACfs p.V291fs CNR1_uc010kbz.2_Frame_Shift_Del_p.V291fs|CNR1_uc011dzr.1_Frame_Shift_Del_p.V291fs|CNR1_uc011dzs.1_Frame_Shift_Del_p.V291fs|CNR1_uc003pmq.3_Frame_Shift_Del_p.V291fs|CNR1_uc011dzt.1_Frame_Shift_Del_p.V291fs|CNR1_uc010kca.2_Frame_Shift_Del_p.V258fs NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 291_294 Helical; Name=5; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ATATACATGTACGCATACACGATGAACAGA 0.505 48 26 --- --- --- --- HGF 3082 broad.mit.edu 37 7 81340811 81340811 + Frame_Shift_Del DEL A - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr7:81340811delA uc003uhl.2 - 12 1595 c.1430delT c.(1429-1431)ATAfs p.I477fs HGF_uc003uhm.2_Frame_Shift_Del_p.I472fs NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 477 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TAAATTGACTATTGTAGGTGT 0.264 19 18 --- --- --- --- PTENP1 11191 broad.mit.edu 37 9 33676397 33676398 + Frame_Shift_Del DEL CT - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr9:33676397_33676398delCT uc003zth.3 - 1 1021_1022 c.150_151delAG c.(148-153)AGAGTTfs p.R50fs NR_023917 SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment; 0 TATTGCGCAACTCTGTAATTAG 0.366 30 55 --- --- --- --- EEF1G 1937 broad.mit.edu 37 11 62334908 62334908 + Frame_Shift_Del DEL G - - rs1061093 by1000genomes TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:62334908delG uc001ntm.1 - 6 761 c.615delC c.(613-615)GGCfs p.G205fs EEF1G_uc010rlw.1_Frame_Shift_Del_p.G255fs|EEF1G_uc001ntn.1_Frame_Shift_Del_p.G85fs NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 205 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 GTTTCACTTCGCCCAAGACAG 0.557 27 12 --- --- --- --- KRTAP5-10 387273 broad.mit.edu 37 11 71276657 71276658 + In_Frame_Ins INS - GGCTGTGGCTCCGGCTGTGGG GGCTGTGGCTCCGGCTGTGGG TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG uc001oqt.1 + 1 49_50 c.24_25insGGCTGTGGCTCCGGCTGTGGG c.(22-27)insGGCTGTGGCTCCGGCTGTGGG p.29_30insGCGSGCG NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 29_30 keratin filament skin(1) 1 GCTGCTCCGGAGGCTGTGGCTC 0.668 75 97 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48934227 48934227 + Frame_Shift_Del DEL A - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr13:48934227delA uc001vcb.2 + 7 848 c.682delA c.(682-684)AAAfs p.K228fs RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 228 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.?(5) 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) CTATTTTATTAAACTCTCACC 0.259 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) 33 47 --- --- --- --- SDR39U1 56948 broad.mit.edu 37 14 24909696 24909696 + Frame_Shift_Del DEL C - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:24909696delC uc001wpm.2 - 6 507 c.475delG c.(475-477)GTTfs p.V159fs KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Frame_Shift_Del_p.V51fs|SDR39U1_uc001wpj.2_Frame_Shift_Del_p.V77fs|SDR39U1_uc001wpk.2_Frame_Shift_Del_p.V51fs|SDR39U1_uc001wpl.2_Frame_Shift_Del_p.V104fs|SDR39U1_uc001wpn.2_Frame_Shift_Del_p.V34fs|uc001wpo.1_5'Flank NM_020195 NP_064580 Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, 185 binding pancreas(1) 1 CCCAGCACAACCCCTAGAGCA 0.637 5 5 --- --- --- --- C14orf115 55237 broad.mit.edu 37 14 74824463 74824463 + Frame_Shift_Del DEL G - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr14:74824463delG uc001xpw.3 + 2 1168 c.977delG c.(976-978)CGGfs p.R326fs NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 326 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AGCTTCCACCGGGGGGGCGTC 0.642 44 71 --- --- --- --- TGM3 7053 broad.mit.edu 37 20 2291706 2291706 + Frame_Shift_Del DEL G - - TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 6c05b3f5-65e9-4e7d-9f99-a694006f2ed0 9708f08b-7982-4962-a05e-f82a3b24ac20 g.chr20:2291706delG uc002wfx.3 + 4 568 c.471delG c.(469-471)CAGfs p.Q157fs NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 157 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) AGTATGTTCAGGAAGATGCCG 0.458 70 68 --- --- --- ---