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 MACF1 23499 broad.mit.edu 37 1 39798958 39798958 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:39798958C>T uc010oiu.1 + 1 2149 c.2018C>T c.(2017-2019)ACA>ATA p.T673I MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2238 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTAAAGAAAACATTTCTGGCT 0.383 4 42 --- --- --- --- PASS ZMYND12 84217 broad.mit.edu 37 1 42898960 42898960 + Splice_Site SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:42898960C>A uc001chj.2 - 7 1100 c.830_splice c.e7-1 p.D277_splice ZMYND12_uc010ojt.1_Splice_Site_p.D167_splice NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGGCTTCATCTGCATTGGAA 0.463 6 107 --- --- --- --- PASS C1orf168 199920 broad.mit.edu 37 1 57257917 57257917 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:57257917C>T uc001cym.3 - 2 975 c.569G>A c.(568-570)GGA>GAA p.G190E C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.G190E NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 190 ovary(3)|skin(2) 5 AGTCTGGGCTCCTTTTGTTTC 0.463 7 96 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86252091 86252091 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:86252091T>C uc001dlj.2 - 48 4047 c.4005A>G c.(4003-4005)CCA>CCG p.P1335P COL24A1_uc001dli.2_Silent_p.P471P|COL24A1_uc010osd.1_Silent_p.P635P|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1335 Collagen-like 15. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTTTACTCCTGGAGGACCTG 0.468 15 80 --- --- --- --- PASS REG4 83998 broad.mit.edu 37 1 120342441 120342441 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:120342441G>T uc001eig.2 - 5 650 c.210C>A c.(208-210)ATC>ATA p.I70I REG4_uc001eif.2_Silent_p.I70I NM_001159352 NP_001152824 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 70 C-type lectin. extracellular region sugar binding ovary(1) 1 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTAAACTCAGGATAGATGCCA 0.498 12 130 --- --- --- --- PASS ADAM30 11085 broad.mit.edu 37 1 120437090 120437090 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:120437090C>T uc001eij.2 - 1 2024 c.1870G>A c.(1870-1872)GTC>ATC p.V624I NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 624 Cys-rich.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GAGCTATTGACGCAATTTTTT 0.453 5 58 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181686390 181686390 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:181686390G>A uc001gow.2 + 11 1642 c.1477G>A c.(1477-1479)GTG>ATG p.V493M CACNA1E_uc009wxs.2_Missense_Mutation_p.V400M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 493 Helical; Name=S1 of repeat II.|II. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CACTGCCTGTGTGGCCATTGT 0.547 11 60 --- --- --- --- PASS CFHR3 10878 broad.mit.edu 37 1 196748418 196748418 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:196748418C>A uc001gtl.2 + 2 272 c.185C>A c.(184-186)CCT>CAT p.P62H CFHR3_uc001gtk.2_Missense_Mutation_p.P62H|CFHR3_uc010poy.1_Missense_Mutation_p.P62H|CFHR1_uc001gtm.2_Missense_Mutation_p.P25H NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 62 Sushi 1. extracellular space 0 TTTGAGACTCCTTCAGGAAGT 0.393 6 36 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197024916 197024916 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:197024916T>A uc001gtt.1 - 8 1327 c.1283A>T c.(1282-1284)TAT>TTT p.Y428F NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 428 Sushi 7. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CAGTAAGTAATATTCATTGCA 0.423 4 61 --- --- --- --- PASS C1orf53 388722 broad.mit.edu 37 1 197874996 197874996 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:197874996G>A uc001guh.2 + 2 433 c.335G>A c.(334-336)AGA>AAA p.R112K NM_001024594 NP_001019765 Q5VUE5 CA053_HUMAN hypothetical protein LOC388722 112 0 CACTTGCAAAGAGGTGAATGT 0.438 9 93 --- --- --- --- PASS PIGR 5284 broad.mit.edu 37 1 207104843 207104843 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:207104843C>G uc001hez.2 - 10 2382 c.2198G>C c.(2197-2199)AGG>ACG p.R733T PIGR_uc009xbz.2_Missense_Mutation_p.R733T NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 733 Cytoplasmic (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCTCCTCACCCTTTTTGCCTT 0.343 5 74 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216166446 216166446 + Missense_Mutation SNP G T T rs111033412 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:216166446G>T uc001hku.1 - 35 7108 c.6721C>A c.(6721-6723)CCC>ACC p.P2241T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2241 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACGCCTTCGGGTATGTCCTCG 0.507 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 104 --- --- --- --- PASS TGFB2 7042 broad.mit.edu 37 1 218610736 218610736 + Missense_Mutation SNP G T T rs147678881 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:218610736G>T uc001hlm.2 + 6 1637 c.984G>T c.(982-984)AGG>AGT p.R328S TGFB2_uc001hln.2_Missense_Mutation_p.R356S|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 328 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) ATTTCAAGAGGGATCTAGGGT 0.408 4 80 --- --- --- --- PASS COG2 22796 broad.mit.edu 37 1 230798897 230798897 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:230798897C>T uc001htw.2 + 4 462 c.311C>T c.(310-312)TCG>TTG p.S104L COG2_uc001htx.2_Missense_Mutation_p.S104L|COG2_uc010pwc.1_5'UTR NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 104 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AGCCTTAGATCGTCTGTCAGT 0.308 4 27 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112224 248112224 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:248112224T>A uc001idt.1 + 1 65 c.65T>A c.(64-66)ATT>AAT p.I22N OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCATCAAGAATTGACCTTTTC 0.398 11 144 --- --- --- --- PASS PGBD2 267002 broad.mit.edu 37 1 249212547 249212547 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr1:249212547G>T uc001ifh.2 + 3 1911 c.1764G>T c.(1762-1764)GAG>GAT p.E588D PGBD2_uc001ifg.2_Missense_Mutation_p.E337D|PGBD2_uc009xhd.2_Missense_Mutation_p.E585D NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 588 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCTTCAGGGAGTACCACATCC 0.488 8 65 --- --- --- --- PASS SH3YL1 26751 broad.mit.edu 37 2 233210 233210 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:233210C>A uc002qvx.2 - 6 508 c.424G>T c.(424-426)GCC>TCC p.A142S SH3YL1_uc002qvy.2_Missense_Mutation_p.A142S|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.A46S|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.A46S|SH3YL1_uc002qvw.2_RNA NM_015677 NP_056492 Q96HL8 SH3Y1_HUMAN SH3 domain containing, Ysc84-like 1 isoform 1 142 ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) CTTCTCAGGGCCACGTTTCCT 0.483 3 12 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25045432 25045432 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:25045432G>A uc002rfs.3 - 18 3150 c.2951C>T c.(2950-2952)GCT>GTT p.A984V ADCY3_uc002rfr.3_Missense_Mutation_p.A571V|ADCY3_uc010ykm.1_Missense_Mutation_p.A985V NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 984 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|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) GACTCCTGAAGCCGCCATATA 0.537 9 64 --- --- --- --- PASS FAM179A 165186 broad.mit.edu 37 2 29245097 29245097 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:29245097C>A uc010ezl.2 + 11 1785 c.1434C>A c.(1432-1434)GCC>GCA p.A478A FAM179A_uc010ymm.1_Silent_p.A423A|FAM179A_uc002rmr.3_Silent_p.A5A NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 478 binding ovary(3)|skin(1) 4 ATCTTAGAGCCTGTAAGGAGT 0.542 4 62 --- --- --- --- PASS GALNT14 79623 broad.mit.edu 37 2 31178795 31178795 + Missense_Mutation SNP C T T rs150208592 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:31178795C>T uc002rnr.2 - 5 1134 c.515G>A c.(514-516)CGC>CAC p.R172H GALNT14_uc002rnq.2_Missense_Mutation_p.R152H|GALNT14_uc002rns.2_Missense_Mutation_p.R177H|GALNT14_uc010ymr.1_Missense_Mutation_p.R137H|GALNT14_uc010ezo.1_Missense_Mutation_p.R139H|GALNT14_uc010ezp.1_Missense_Mutation_p.R143H NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 172 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TTCATTATTGCGCAAGCATTT 0.527 6 185 --- --- --- --- PASS POLE4 56655 broad.mit.edu 37 2 75187240 75187240 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:75187240A>G uc002snf.2 + 3 339 c.307A>G c.(307-309)ATA>GTA p.I103V NM_019896 NP_063949 Q9NR33 DPOE4_HUMAN DNA-directed DNA polymerase epsilon 4 103 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding 0 AGATAATGCAATAGAAGCTGT 0.438 11 92 --- --- --- --- PASS CNGA3 1261 broad.mit.edu 37 2 99013218 99013218 + Missense_Mutation SNP G T T rs104893619 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:99013218G>T uc002syt.2 + 8 2002 c.1585G>T c.(1585-1587)GTG>TTG p.V529L CNGA3_uc002syu.2_Missense_Mutation_p.V511L|CNGA3_uc010fij.2_Missense_Mutation_p.V533L NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 529 cGMP. V -> M (in ACHM2). signal transduction|visual perception integral to membrane cGMP binding p.V529M(1) ovary(5)|upper_aerodigestive_tract(1) 6 CAAGCTGGCCGTGGTGGCTGA 0.552 9 75 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130918802 130918802 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:130918802T>C uc002tqq.1 - 11 1545 c.1025A>G c.(1024-1026)TAC>TGC p.Y342C SMPD4_uc002tqp.1_Missense_Mutation_p.Y35C|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.Y210C|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Missense_Mutation_p.T56A|SMPD4_uc010zad.1_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 303 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GGCGGGGCTGTAGAGGGCGCT 0.582 6 73 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168104927 168104927 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:168104927C>A uc002udx.2 + 8 7043 c.7025C>A c.(7024-7026)CCA>CAA p.P2342Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2167Q|XIRP2_uc010fpq.2_Missense_Mutation_p.P2120Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2167 Pro-rich. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAAAGTTTTCCAGGCCTCCCT 0.463 10 113 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179480100 179480100 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:179480100A>G uc010zfg.1 - 208 41092 c.40868T>C c.(40867-40869)ATA>ACA p.I13623T uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.I7318T|TTN_uc010zfi.1_Missense_Mutation_p.I7251T|TTN_uc010zfj.1_Missense_Mutation_p.I7126T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14550 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) TCTTTCAACTATATATCCTTT 0.403 14 95 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179586757 179586757 + Nonsense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:179586757G>A uc010zfg.1 - 75 19125 c.18901C>T c.(18901-18903)CGA>TGA p.R6301* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R2962* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7228 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) CAAGTGATTCGCATCGGTTGA 0.408 8 148 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189904261 189904261 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:189904261C>G uc002uqk.2 - 51 3937 c.3662G>C c.(3661-3663)GGC>GCC p.G1221A COL5A2_uc010frx.2_Missense_Mutation_p.G797A NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1221 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACCCGGAGGGCCAGGTGGGCC 0.478 3 16 --- --- --- --- PASS MYO1B 4430 broad.mit.edu 37 2 192206227 192206227 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:192206227T>C uc010fsg.2 + 5 642 c.387T>C c.(385-387)TGT>TGC p.C129C MYO1B_uc002usq.2_Silent_p.C129C|MYO1B_uc002usr.2_Silent_p.C129C|MYO1B_uc002uss.1_Silent_p.C129C NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 129 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) CAGCTGTTTGTGGAAAAGGAG 0.393 7 61 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209217385 209217385 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:209217385C>T uc002vcz.2 + 39 5881 c.5723C>T c.(5722-5724)ACG>ATG p.T1908M NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1908 Catalytic.|PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TAGAGGCCCACGGCGTTGGCC 0.328 8 47 --- --- --- --- PASS UNC80 285175 broad.mit.edu 37 2 210642091 210642091 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:210642091C>G uc010zjc.1 + 4 488 c.408C>G c.(406-408)GAC>GAG p.D136E UNC80_uc002vdj.1_Missense_Mutation_p.D136E NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 136 integral to membrane 0 GGGGTACAGACCGAGGCTCCA 0.547 6 53 --- --- --- --- PASS KCNE4 23704 broad.mit.edu 37 2 223917594 223917594 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:223917594G>T uc002vnl.3 + 2 200 c.46G>T c.(46-48)GCC>TCC p.A16S NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 16 integral to membrane voltage-gated potassium channel activity ovary(1) 1 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CGGCACCGCCGCCTCCAGCAG 0.617 8 53 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 234102535 234102535 + Nonsense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr2:234102535G>T uc010zmo.1 + 22 2677 c.2524G>T c.(2524-2526)GAG>TAG p.E842* INPP5D_uc010zmp.1_Nonsense_Mutation_p.E841* NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 842 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCACCATGGGGAGTTGACAGG 0.617 5 42 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1269556 1269556 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:1269556G>A uc003boz.2 + 4 504 c.237G>A c.(235-237)TTG>TTA p.L79L CNTN6_uc010hbo.2_Silent_p.L74L|CNTN6_uc011asj.1_Silent_p.L7L|CNTN6_uc003bpa.2_Silent_p.L79L NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 79 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ACTACAGGTTGGATGGAGGCA 0.413 7 70 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 2942484 2942484 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:2942484T>A uc003bpc.2 + 10 1277 c.1056T>A c.(1054-1056)AAT>AAA p.N352K CNTN4_uc003bpb.1_Missense_Mutation_p.N24K|CNTN4_uc003bpd.1_Missense_Mutation_p.N352K|CNTN4_uc003bpe.2_Missense_Mutation_p.N24K|CNTN4_uc003bpf.2_Missense_Mutation_p.N24K NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 352 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GGCTAAAAAATGGCGAACCTC 0.393 3 51 --- --- --- --- PASS ITPR1 3708 broad.mit.edu 37 3 4725142 4725142 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:4725142G>T uc003bqa.2 + 27 3555 c.3207G>T c.(3205-3207)ACG>ACT p.T1069T ITPR1_uc010hca.1_Silent_p.T1054T|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_5'UTR NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 1078 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCCACTTGACGATGCATGACT 0.602 15 73 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049432 109049432 + Nonsense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:109049432C>T uc003dxq.3 - 5 673 c.618G>A c.(616-618)TGG>TGA p.W206* DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W206* NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 206 nucleus protein binding upper_aerodigestive_tract(1) 1 AAATTCTCGCCCAGGAGGCCA 0.562 4 66 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141535837 141535837 + Missense_Mutation SNP C A A rs67254707 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:141535837C>A uc011bnd.1 + 4 1691 c.1607C>A c.(1606-1608)CCT>CAT p.P536H NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 536 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CCCAACAGACCTACGGGTTGT 0.458 8 96 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164716462 164716462 + Splice_Site SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:164716462C>T uc003fei.2 - 38 4469 c.4407_splice c.e38-1 p.D1469_splice NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTGCAATGCACTAATATAGTA 0.338 HNSCC(35;0.089) 4 44 --- --- --- --- PASS SERPINI1 5274 broad.mit.edu 37 3 167508224 167508224 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:167508224G>T uc003ffa.3 + 3 513 c.315G>T c.(313-315)GTG>GTT p.V105V SERPINI1_uc003ffb.3_Silent_p.V105V NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 105 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 GCCAATATGTGATGAAAATTG 0.318 4 68 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173996989 173996989 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:173996989G>T uc003fio.1 + 6 1621 c.1198G>T c.(1198-1200)GTA>TTA p.V400L NLGN1_uc010hww.1_Missense_Mutation_p.V440L|NLGN1_uc003fip.1_Missense_Mutation_p.V400L NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 417 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGAAAATATAGTAGATAGCGA 0.353 15 73 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182933804 182933804 + Nonsense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:182933804T>A uc003fli.1 - 22 2539 c.2449A>T c.(2449-2451)AAG>TAG p.K817* NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 817 DH. 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) TCACAGGACTTGATCAAATCC 0.448 21 74 --- --- --- --- PASS DVL3 1857 broad.mit.edu 37 3 183884310 183884310 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:183884310G>T uc003fms.2 + 9 1120 c.980G>T c.(979-981)GGG>GTG p.G327V DVL3_uc011bqw.1_Missense_Mutation_p.G327V|DVL3_uc003fmt.2_Intron|DVL3_uc003fmu.2_Missense_Mutation_p.G159V NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 327 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CACAAACCGGGGTATGGATGG 0.542 12 64 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184298229 184298229 + Missense_Mutation SNP A T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr3:184298229A>T uc003foz.2 + 12 2649 c.2212A>T c.(2212-2214)ATG>TTG p.M738L NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 738 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCTGGTGGGCATGTTGCGGGG 0.597 13 65 --- --- --- --- PASS HTRA3 94031 broad.mit.edu 37 4 8307739 8307739 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:8307739G>A uc003gla.2 + 9 1442 c.1238G>A c.(1237-1239)GGG>GAG p.G413E NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 413 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 AAGGTCAACGGGCGTCCTCTA 0.642 4 60 --- --- --- --- PASS LGI2 55203 broad.mit.edu 37 4 25005391 25005391 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:25005391G>T uc003grf.2 - 8 1419 c.1320C>A c.(1318-1320)ATC>ATA p.I440I NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 440 EAR 5. extracellular region 0 Breast(46;0.173) GGGAGTCCCCGATGAAGCGGG 0.537 14 155 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42965125 42965125 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:42965125G>T uc003gwt.2 + 2 601 c.601G>T c.(601-603)GTG>TTG p.V201L NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 201 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 CCTCCCTGTTGTGTTCATTGA 0.428 30 239 --- --- --- --- PASS SMR3A 26952 broad.mit.edu 37 4 71232480 71232480 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:71232480T>C uc003hfg.1 + 3 255 c.174T>C c.(172-174)TAT>TAC p.Y58Y SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 58 Pro-rich. extracellular region 0 all_hematologic(202;0.196) CTCCACCCTATGGTCCAGGGA 0.567 4 82 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123283401 123283401 + Silent SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:123283401A>G uc003ieh.2 + 84 15062 c.15017A>G c.(15016-15018)TAA>TGA p.*5006* KIAA1109_uc003iem.2_Silent_p.*1362* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 5006 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GAAGAACACTAAAAAAGTAAT 0.289 4 44 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126372912 126372912 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:126372912T>A uc003ifj.3 + 9 10741 c.10741T>A c.(10741-10743)TAT>AAT p.Y3581N FAT4_uc011cgp.1_Missense_Mutation_p.Y1879N|FAT4_uc003ifi.1_Missense_Mutation_p.Y1059N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3581 Cadherin 34.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGCAGACTTCTATCTGTCTGT 0.463 15 80 --- --- --- --- PASS GAB1 2549 broad.mit.edu 37 4 144381636 144381636 + Missense_Mutation SNP A T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:144381636A>T uc003ije.2 + 8 2158 c.1799A>T c.(1798-1800)GAC>GTC p.D600V GAB1_uc003ijd.2_Missense_Mutation_p.D630V|GAB1_uc011chq.1_Missense_Mutation_p.D497V NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 600 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) TCCAGTGAAGACCCAGTATGT 0.418 15 95 --- --- --- --- PASS ARFIP1 27236 broad.mit.edu 37 4 153784805 153784805 + Silent SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:153784805A>G uc003imz.2 + 3 417 c.141A>G c.(139-141)CAA>CAG p.Q47Q ARFIP1_uc003inb.2_Silent_p.Q47Q|ARFIP1_uc003ina.2_Silent_p.Q47Q|ARFIP1_uc003inc.2_Silent_p.Q47Q|ARFIP1_uc011cij.1_Intron NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 47 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) CAGAAACCCAAATTACATCTC 0.368 10 44 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187541112 187541112 + Nonsense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr4:187541112C>A uc003izf.2 - 10 6816 c.6628G>T c.(6628-6630)GAA>TAA p.E2210* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2210 Extracellular (Potential).|Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTCAGGCCTTCCGGGCTGTTA 0.488 HNSCC(5;0.00058) 14 88 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32091056 32091056 + Missense_Mutation SNP A C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:32091056A>C uc003jhl.2 + 20 7890 c.7502A>C c.(7501-7503)TAC>TCC p.Y2501S PDZD2_uc003jhm.2_Missense_Mutation_p.Y2501S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2501 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGCGAGGATTACTCAGCAGGG 0.632 8 48 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33648940 33648940 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:33648940C>A uc003jia.1 - 9 1629 c.1466G>T c.(1465-1467)TGC>TTC p.C489F ADAMTS12_uc010iuq.1_Missense_Mutation_p.C489F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 489 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TACTTCCTGGCAGAAGGTAGC 0.478 HNSCC(64;0.19) 13 55 --- --- --- --- PASS TTC23L 153657 broad.mit.edu 37 5 34864559 34864559 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:34864559T>C uc003jiu.2 + 6 657 c.554T>C c.(553-555)TTC>TCC p.F185S TTC23L_uc003jiv.2_5'UTR|TTC23L_uc010iut.1_5'UTR NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 185 Potential. binding central_nervous_system(1) 1 GAAGCCTATTTCAACCTGCAG 0.433 5 57 --- --- --- --- PASS LIFR 3977 broad.mit.edu 37 5 38510628 38510628 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:38510628C>G uc010ive.1 - 7 1261 c.929G>C c.(928-930)AGT>ACT p.S310T LIFR_uc003jli.2_Missense_Mutation_p.S310T NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 310 Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) ATTTGTTCCACTACTTGCAGA 0.353 T PLAG1 salivary adenoma 3 60 --- --- --- --- PASS MAN2A1 4124 broad.mit.edu 37 5 109155491 109155491 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:109155491G>C uc003kou.1 + 14 3194 c.2231G>C c.(2230-2232)GGA>GCA p.G744A NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 744 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GAAGATAGCGGAATTTTCACC 0.333 17 103 --- --- --- --- PASS SLC12A2 6558 broad.mit.edu 37 5 127520118 127520118 + Silent SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:127520118A>G uc003kus.2 + 25 3524 c.3360A>G c.(3358-3360)CAA>CAG p.Q1120Q SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.Q1104Q NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 1120 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATAAAGAGCAAGATATTGCAG 0.313 7 54 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127636600 127636600 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:127636600G>T uc003kuu.2 - 48 6514 c.6075C>A c.(6073-6075)GGC>GGA p.G2025G NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2025 EGF-like 34; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAGAGCAAGAGCCGGGAAGGG 0.413 4 48 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127648420 127648420 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:127648420G>A uc003kuu.2 - 37 5224 c.4785C>T c.(4783-4785)ACC>ACT p.T1595T NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1595 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCCCGATCTCGGTGTTGCAAG 0.562 25 153 --- --- --- --- PASS MATR3 9782 broad.mit.edu 37 5 138653312 138653312 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:138653312G>C uc003ldu.2 + 10 1637 c.1210G>C c.(1210-1212)GAT>CAT p.D404H MATR3_uc010jfb.2_Missense_Mutation_p.D404H|MATR3_uc003ldt.2_Missense_Mutation_p.D66H|MATR3_uc003ldw.2_Missense_Mutation_p.D404H|MATR3_uc003ldx.2_Missense_Mutation_p.D404H|MATR3_uc010jfc.2_Missense_Mutation_p.D404H|MATR3_uc003ldy.2_Missense_Mutation_p.D81H|MATR3_uc011czb.1_Missense_Mutation_p.D116H|MATR3_uc003ldz.2_Missense_Mutation_p.D404H|MATR3_uc003lea.2_Missense_Mutation_p.D404H|MATR3_uc003leb.2_Missense_Mutation_p.D66H|MATR3_uc003lec.2_Missense_Mutation_p.D81H NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 404 RRM 1. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCACATCATGGATTTTCAACG 0.348 3 42 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140208977 140208977 + Nonsense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:140208977C>A uc003lho.2 + 1 1328 c.1301C>A c.(1300-1302)TCG>TAG p.S434* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Nonsense_Mutation_p.S434*|PCDHA6_uc011dab.1_Nonsense_Mutation_p.S434* NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 434 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.612 17 66 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153149968 153149968 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:153149968G>C uc003lva.3 + 13 2628 c.2263G>C c.(2263-2265)GCC>CCC p.A755P GRIA1_uc003luy.3_Missense_Mutation_p.A755P|GRIA1_uc003luz.3_Missense_Mutation_p.A660P|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A675P|GRIA1_uc011dcx.1_Missense_Mutation_p.A686P|GRIA1_uc011dcy.1_Missense_Mutation_p.A765P|GRIA1_uc011dcz.1_Missense_Mutation_p.A765P NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 755 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAAGGGGTCTGCCCTGAGGTA 0.512 3 21 --- --- --- --- PASS GABRP 2568 broad.mit.edu 37 5 170222260 170222260 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:170222260C>A uc003mau.2 + 5 487 c.289C>A c.(289-291)CTG>ATG p.L97M GABRP_uc011dev.1_Missense_Mutation_p.L97M NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 97 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGACCAGCGGCTGGTGTTTGA 0.557 5 104 --- --- --- --- PASS ATP6V0E1 8992 broad.mit.edu 37 5 172410956 172410956 + Silent SNP T G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr5:172410956T>G uc003mcd.1 + 1 194 c.93T>G c.(91-93)GGT>GGG p.G31G NM_003945 NP_003936 O15342 VA0E1_HUMAN ATPase, H+ transporting, lysosomal 9kDa, V0 31 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole proton-transporting ATPase activity, rotational mechanism 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCCCTAAGGGTCCTAACCGGG 0.647 12 98 --- --- --- --- PASS TRIM10 10107 broad.mit.edu 37 6 30128523 30128523 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr6:30128523G>T uc003npo.3 - 1 189 c.113C>A c.(112-114)GCC>GAC p.A38D TRIM10_uc003npn.2_Missense_Mutation_p.A38D|TRIM15_uc010jrx.2_5'Flank NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 38 RING-type. cytoplasm zinc ion binding 0 GGTAAGGCAGGCCCGGCAGAA 0.622 9 73 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106999847 106999847 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr6:106999847A>G uc003prh.2 + 12 4696 c.4209A>G c.(4207-4209)ATA>ATG p.I1403M AIM1_uc003pri.2_Missense_Mutation_p.I207M NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1403 Beta/gamma crystallin 'Greek key' 8. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TTCAACCTATATGTTTGGTAA 0.338 14 87 --- --- --- --- PASS FAM184A 79632 broad.mit.edu 37 6 119324136 119324136 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr6:119324136C>A uc003pyj.2 - 9 2364 c.2016G>T c.(2014-2016)TTG>TTT p.L672F FAM184A_uc003pyk.3_Missense_Mutation_p.L552F|FAM184A_uc003pyl.3_Missense_Mutation_p.L552F NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 672 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 CTTTCAACTGCAAAAGTTGAG 0.348 13 82 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136913588 136913588 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr6:136913588T>C uc003qhc.2 - 22 3404 c.3043A>G c.(3043-3045)ACA>GCA p.T1015A MAP3K5_uc011edj.1_Missense_Mutation_p.T262A|MAP3K5_uc011edk.1_Missense_Mutation_p.T861A NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1015 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AAAAAGAGTGTCCGAATTCCC 0.443 14 132 --- --- --- --- PASS C6orf72 116254 broad.mit.edu 37 6 149893447 149893447 + Silent SNP A C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr6:149893447A>C uc003qmq.1 + 2 174 c.147A>C c.(145-147)ACA>ACC p.T49T C6orf72_uc010kie.1_Intron NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 49 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) ATGTAACTACACTGAAAGATG 0.353 3 40 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169641988 169641988 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr6:169641988A>G uc003qwt.2 - 6 1008 c.760T>C c.(760-762)TAC>CAC p.Y254H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 254 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGGCCCACGTACTCGGTGGTG 0.637 6 50 --- --- --- --- PASS SNX13 23161 broad.mit.edu 37 7 17861181 17861181 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:17861181T>C uc003stw.1 - 18 2042 c.1829A>G c.(1828-1830)TAT>TGT p.Y610C SNX13_uc003stv.2_Missense_Mutation_p.Y599C|SNX13_uc010kuc.2_Missense_Mutation_p.Y396C|SNX13_uc010kub.2_Missense_Mutation_p.Y5C Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 610 PX. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATAACGACGATAGGTTTTCCA 0.398 7 79 --- --- --- --- PASS CDCA7L 55536 broad.mit.edu 37 7 21948030 21948030 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:21948030G>A uc010kuk.2 - 4 519 c.399C>T c.(397-399)AGC>AGT p.S133S CDCA7L_uc003sve.3_Silent_p.S99S|CDCA7L_uc010kul.2_Silent_p.S87S|CDCA7L_uc003svf.3_Silent_p.S132S|CDCA7L_uc011jyk.1_Silent_p.S133S NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 133 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 TTCTAGACCTGCTTCTTCTAG 0.453 4 44 --- --- --- --- PASS VPS41 27072 broad.mit.edu 37 7 38937702 38937702 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:38937702C>G uc003tgy.2 - 2 75 c.49G>C c.(49-51)GAT>CAT p.D17H VPS41_uc003tgz.2_Missense_Mutation_p.D17H|VPS41_uc010kxn.2_Missense_Mutation_p.D17H NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 17 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TCAGACTCATCTGTAGATTCT 0.428 3 39 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43506139 43506139 + Missense_Mutation SNP A C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:43506139A>C uc003tid.1 + 15 3490 c.2885A>C c.(2884-2886)GAG>GCG p.E962A HECW1_uc011kbi.1_Missense_Mutation_p.E928A NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 962 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 ACCAACCCCGAGTTCTTCACT 0.493 7 72 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44579469 44579469 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:44579469C>A uc003tlb.2 - 2 583 c.527G>T c.(526-528)CGC>CTC p.R176L NPC1L1_uc003tlc.2_Missense_Mutation_p.R176L|NPC1L1_uc011kbw.1_Missense_Mutation_p.R176L|NPC1L1_uc003tld.2_Missense_Mutation_p.R176L NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 176 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) TGCAGGGACGCGCACACGGCT 0.622 4 49 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47988034 47988034 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:47988034C>A uc003tny.1 - 1 4 c.4G>T c.(4-6)GCC>TCC p.A2S NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GCCTCCTCGGCCATGTCCTGT 0.453 10 31 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72865253 72865253 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:72865253C>A uc003tyc.2 - 14 3849 c.3504G>T c.(3502-3504)CTG>CTT p.L1168L NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1168 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) GCATCCCAAGCAGCACGTGCA 0.448 5 51 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72891444 72891444 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:72891444C>A uc003tyc.2 - 7 2692 c.2347G>T c.(2347-2349)GTG>TTG p.V783L NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 783 Potential. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) tccttCAACACAGCAAGCCGT 0.318 6 54 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77973166 77973166 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:77973166G>T uc003ugx.2 - 9 1591 c.1337C>A c.(1336-1338)CCT>CAT p.P446H MAGI2_uc003ugy.2_Missense_Mutation_p.P446H|MAGI2_uc010ldx.1_Missense_Mutation_p.P55H|MAGI2_uc010ldy.1_Missense_Mutation_p.P55H|MAGI2_uc011kgr.1_Missense_Mutation_p.P278H|MAGI2_uc011kgs.1_Missense_Mutation_p.P283H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 446 PDZ 2. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AAACTCATCAGGCTCGTCTCC 0.473 3 47 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81350120 81350120 + Silent SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:81350120G>C uc003uhl.2 - 10 1377 c.1212C>G c.(1210-1212)TCC>TCG p.S404S HGF_uc003uhm.2_Silent_p.S399S NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 404 Kringle 4. 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 ATCTTGTTTGGGATAAGTTGC 0.328 3 39 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 96251955 96251955 + RNA SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:96251955C>A uc010lfm.1 - 5 c.591G>T Homo sapiens cDNA, FLJ17342. TGTATCCAGCCCTGGAAAAAT 0.413 5 23 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97823671 97823671 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:97823671G>T uc003upd.1 + 11 4187 c.3894G>T c.(3892-3894)CTG>CTT p.L1298L NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1298 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ACGAGGACCTGCGGGCCTTCA 0.632 3 46 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97823674 97823674 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:97823674G>A uc003upd.1 + 11 4190 c.3897G>A c.(3895-3897)CGG>CGA p.R1299R NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1299 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGGACCTGCGGGCCTTCAACC 0.632 4 45 --- --- --- --- PASS ZNF3 7551 broad.mit.edu 37 7 99669446 99669446 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:99669446T>C uc003usq.2 - 6 968 c.661A>G c.(661-663)ATC>GTC p.I221V ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.I221V|ZNF3_uc010lgj.2_Missense_Mutation_p.I185V|ZNF3_uc003uss.2_Missense_Mutation_p.I228V|ZNF3_uc003ust.3_Missense_Mutation_p.I221V NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 221 C2H2-type 1. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) CCAGTGTGGATTCTCTGATGT 0.463 10 65 --- --- --- --- PASS DNAJB9 4189 broad.mit.edu 37 7 108212208 108212208 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:108212208G>T uc003vfn.2 + 2 240 c.38G>T c.(37-39)TGC>TTC p.C13F THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank NM_012328 NP_036460 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 13 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding 0 TTTGCAATCTGCATTTTAATG 0.348 9 70 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117171036 117171036 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:117171036C>G uc003vjd.2 + 4 489 c.357C>G c.(355-357)ATC>ATG p.I119M CFTR_uc011knq.1_Translation_Start_Site NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 119 Helical; Name=2; (Potential).|ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AACGCTCTATCGCGATTTATC 0.453 Cystic_Fibrosis 3 33 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149502592 149502592 + Missense_Mutation SNP G T T rs111879522 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:149502592G>T uc010lpk.2 + 58 8405 c.8405G>T c.(8404-8406)CGA>CTA p.R2802L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2802 TSP type-1 7. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGTCGTTCCCGACTCTGCCCC 0.677 5 34 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149520539 149520539 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:149520539C>A uc010lpk.2 + 93 13357 c.13357C>A c.(13357-13359)CCA>ACA p.P4453T SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4453 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAGGACCTGCCACCCTGCCA 0.642 5 29 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151879119 151879119 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr7:151879119T>C uc003wla.2 - 36 6045 c.5826A>G c.(5824-5826)ACA>ACG p.T1942T MLL3_uc003wkz.2_Silent_p.T1003T NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1942 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCCTATTTGCTGTTGTCTCAT 0.453 N medulloblastoma 9 100 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3216711 3216711 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:3216711G>T uc011kwk.1 - 21 3660 c.3270C>A c.(3268-3270)GGC>GGA p.G1090G CSMD1_uc011kwj.1_Silent_p.G482G|CSMD1_uc003wqe.2_Silent_p.G246G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1090 Sushi 6.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACACACGGCGGCCCCCACCCA 0.552 5 41 --- --- --- --- PASS NEFM 4741 broad.mit.edu 37 8 24775515 24775515 + Missense_Mutation SNP A T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:24775515A>T uc003xed.3 + 3 2180 c.2147A>T c.(2146-2148)GAG>GTG p.E716V NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.E340V NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 716 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) cccaaggaagagaaggtagag 0.174 5 7 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77761753 77761753 + Nonsense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:77761753T>A uc003yav.2 + 8 3903 c.3516T>A c.(3514-3516)TAT>TAA p.Y1172* ZFHX4_uc003yau.1_Nonsense_Mutation_p.Y1217*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Y1172* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1172 C2H2-type 8. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCAGTTCTATCAATGTCCTT 0.313 HNSCC(33;0.089) 5 54 --- --- --- --- PASS FABP5 2171 broad.mit.edu 37 8 82196796 82196796 + Silent SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:82196796A>G uc003yca.1 + 4 450 c.402A>G c.(400-402)GTA>GTG p.V134V NM_001444 NP_001435 Q01469 FABP5_HUMAN fatty acid binding protein 5 134 epidermis development cytoplasm fatty acid binding|protein binding|transporter activity 0 Lung NSC(7;3.57e-05)|all_lung(9;0.00011) Epithelial(68;0.102) ATGAAAAAGTAGAATAAAAAT 0.348 5 28 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 93029532 93029532 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:93029532T>C uc003yfd.2 - 2 232 c.148A>G c.(148-150)AGG>GGG p.R50G RUNX1T1_uc003yfc.1_Missense_Mutation_p.R23G|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R13G|RUNX1T1_uc010mao.2_Missense_Mutation_p.R23G|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R61G|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R13G|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R13G|RUNX1T1_uc003yff.1_Missense_Mutation_p.R13G|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R13G NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 50 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGAGTCAGCCTAGATTGCGTC 0.473 4 49 --- --- --- --- PASS MTDH 92140 broad.mit.edu 37 8 98703374 98703374 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:98703374T>A uc003yhz.2 + 6 1334 c.1006T>A c.(1006-1008)TGG>AGG p.W336R MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 336 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TGGAAAAGACTGGGGAAGGAG 0.383 4 51 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144894454 144894454 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr8:144894454G>A uc003yzp.1 - 9 895 c.888C>T c.(886-888)CTC>CTT p.L296L SCRIB_uc003yzo.1_Silent_p.L296L NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 296 LRR 12.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGTTCTCCGTGAGGATCAGCT 0.592 14 65 --- --- --- --- PASS KANK1 23189 broad.mit.edu 37 9 713340 713340 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:713340G>T uc003zgl.1 + 7 3223 c.2574G>T c.(2572-2574)CAG>CAT p.Q858H KANK1_uc003zgm.2_Missense_Mutation_p.Q858H|KANK1_uc003zgn.1_Missense_Mutation_p.Q858H|KANK1_uc003zgo.1_Missense_Mutation_p.Q858H|KANK1_uc003zgp.1_Missense_Mutation_p.Q858H|KANK1_uc003zgq.2_Missense_Mutation_p.Q700H|KANK1_uc003zgr.1_Missense_Mutation_p.Q700H|KANK1_uc003zgs.1_Missense_Mutation_p.Q700H NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 858 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTCACTCACAGATGGGCTCCC 0.517 10 62 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:20414340G>A uc003zoe.2 - 5 763 c.504C>T c.(502-504)AGC>AGT p.S168S MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.144 T MLL ALL 3 39 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32633524 32633524 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:32633524C>A uc003zrg.1 - 1 2144 c.2054G>T c.(2053-2055)CGC>CTC p.R685L uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 685 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGAGGTGTGCGCATAAAAAA 0.453 19 86 --- --- --- --- PASS TMEM8B 51754 broad.mit.edu 37 9 35853663 35853663 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:35853663G>T uc003zym.2 + 14 2260 c.1245G>T c.(1243-1245)ATG>ATT p.M415I TMEM8B_uc003zyo.2_Missense_Mutation_p.M415I NM_001042589 NP_001036054 A6NDV4 TMM8B_HUMAN transmembrane protein 8B isoform a 415 Helical; (Potential). cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding ovary(1) 1 TTTGGCATATGCTCATTGCGG 0.587 12 64 --- --- --- --- PASS CTSL1 1514 broad.mit.edu 37 9 90345351 90345351 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:90345351G>T uc004aph.2 + 7 1190 c.840G>T c.(838-840)GTG>GTT p.V280V CTSL1_uc004api.2_Silent_p.V280V|CTSL1_uc004apj.2_Silent_p.V225V|CTSL1_uc010mqh.2_Silent_p.V98V|CTSL1_uc004apk.2_Silent_p.V280V|CTSL1_uc004apl.2_Silent_p.V280V NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 280 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) GTGTGCTGGTGGTTGGCTACG 0.418 6 55 --- --- --- --- PASS IPPK 64768 broad.mit.edu 37 9 95411767 95411767 + Nonsense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:95411767C>A uc004asl.1 - 5 659 c.382G>T c.(382-384)GAG>TAG p.E128* NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 128 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 GGCCGGTGCTCTGCAAAGCGG 0.507 6 37 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109692032 109692032 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr9:109692032C>G uc004bcz.2 + 3 6128 c.5839C>G c.(5839-5841)CAA>GAA p.Q1947E ZNF462_uc010mto.2_Missense_Mutation_p.Q1795E|ZNF462_uc004bda.2_Missense_Mutation_p.Q1795E|ZNF462_uc011lvz.1_5'Flank NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1947 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 AGATTTCAAACAAGAGAGGGT 0.488 4 27 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 83635583 83635583 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr10:83635583C>T uc001kco.2 + 1 514 c.487C>T c.(487-489)CGG>TGG p.R163W NRG3_uc010qlz.1_Missense_Mutation_p.R163W|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 163 Ser/Thr-rich.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CACCATCACGCGGGCGCCCAC 0.592 3 24 --- --- --- --- PASS C10orf26 54838 broad.mit.edu 37 10 104572554 104572554 + Silent SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr10:104572554C>T uc001kwe.3 + 4 755 c.495C>T c.(493-495)AGC>AGT p.S165S C10orf26_uc001kwf.3_Silent_p.S186S|C10orf26_uc009xxg.1_Intron NM_017787 NP_060257 Q9NX94 OPA1L_HUMAN hypothetical protein LOC54838 isoform 2 165 Pro-rich. integral to membrane central_nervous_system(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224) CTGAGCCCAGCAGAAGCAGCA 0.652 4 26 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 132944776 132944776 + Silent SNP T G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr10:132944776T>G uc001lkp.2 - 7 1268 c.1182A>C c.(1180-1182)GCA>GCC p.A394A TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 394 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TACTTGCTGGTGCCTCCAGCT 0.493 11 35 --- --- --- --- PASS EFCAB4A 283229 broad.mit.edu 37 11 828686 828686 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:828686C>G uc001lrv.2 + 1 457 c.79C>G c.(79-81)CGG>GGG p.R27G EFCAB4A_uc010qwt.1_Missense_Mutation_p.R27G|EFCAB4A_uc009ycm.1_Missense_Mutation_p.R27G|EFCAB4A_uc001lrw.2_5'Flank Q8N4Y2 EFC4A_HUMAN RecName: Full=EF-hand calcium-binding domain-containing protein 4A; 27 store-operated calcium entry calcium ion binding 0 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCAGGGCCGCGGGCTGCAAT 0.652 5 51 --- --- --- --- PASS STK33 65975 broad.mit.edu 37 11 8435164 8435164 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:8435164C>G uc001mgi.1 - 11 2141 c.1222G>C c.(1222-1224)GTT>CTT p.V408L STK33_uc001mgj.1_Missense_Mutation_p.V408L|STK33_uc001mgk.1_Missense_Mutation_p.V408L|STK33_uc010rbn.1_Missense_Mutation_p.V367L|STK33_uc001mgl.3_Missense_Mutation_p.V221L NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 408 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTTTCCTCAACACTTTCTGGG 0.378 11 113 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55594722 55594722 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:55594722G>T uc001nhy.1 + 1 28 c.28G>T c.(28-30)GCT>TCT p.A10S NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CACCACTGTGGCTGAGTTCAT 0.413 HNSCC(27;0.073) 16 153 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681406 55681406 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:55681406T>A uc010rir.1 - 1 653 c.653A>T c.(652-654)TAT>TTT p.Y218F NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 218 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GATATAACAATAAGAAATGAA 0.398 5 46 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958868 57958868 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:57958868G>C uc010rka.1 + 1 906 c.906G>C c.(904-906)AGG>AGC p.R302S NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) AGGCCACTAGGAAAGCCCTGA 0.403 8 36 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61026208 61026208 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:61026208G>T uc001nra.2 - 20 3086 c.2807C>A c.(2806-2808)ACC>AAC p.T936N VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 936 extracellular region calcium ion binding ovary(1) 1 GCCAGGGTGGGTGGTGGCTGC 0.652 9 51 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62297927 62297927 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:62297927G>A uc001ntl.2 - 5 4262 c.3962C>T c.(3961-3963)CCC>CTC p.P1321L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1321 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGAGATCTTGGGGGCCTTGAA 0.517 9 163 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62298339 62298339 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:62298339T>C uc001ntl.2 - 5 3850 c.3550A>G c.(3550-3552)AAG>GAG p.K1184E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1184 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCAGGCATCTTAAACTTGGGA 0.522 13 181 --- --- --- --- PASS CCDC87 55231 broad.mit.edu 37 11 66358540 66358540 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:66358540C>A uc001oiq.3 - 1 2015 c.1947G>T c.(1945-1947)GTG>GTT p.V649V CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 649 ovary(1)|skin(1) 2 ACTCTCCTGGCACAAAGTCTG 0.542 5 56 --- --- --- --- PASS KRTAP5-10 387273 broad.mit.edu 37 11 71276767 71276767 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:71276767C>T uc001oqt.1 + 1 159 c.134C>T c.(133-135)CCC>CTC p.P45L NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 45 keratin filament skin(1) 1 TGCTGTGTGCCCGTCTGCTGC 0.687 12 72 --- --- --- --- PASS CCDC83 220047 broad.mit.edu 37 11 85610060 85610060 + Splice_Site SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:85610060T>C uc001pbh.1 + 7 1184 c.672_splice c.e7+2 p.E224_splice CCDC83_uc001pbg.1_Splice_Site_p.E224_splice|CCDC83_uc001pbi.1_Splice_Site|CCDC83_uc001pbj.1_Splice_Site_p.E125_splice NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AAAAAAGAGGTAAGTGGAATT 0.348 5 52 --- --- --- --- PASS MMP13 4322 broad.mit.edu 37 11 102822866 102822866 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:102822866C>A uc001phl.2 - 5 702 c.674G>T c.(673-675)GGC>GTC p.G225V NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 225 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TAAGGAGTGGCCGAACTCATG 0.443 10 112 --- --- --- --- PASS VPS11 55823 broad.mit.edu 37 11 118939986 118939986 + Silent SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:118939986C>T uc010ryx.1 + 3 310 c.268C>T c.(268-270)CTG>TTG p.L90L VPS11_uc010ryy.1_5'UTR NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 90 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GGTGACACACCTGTACCAACT 0.512 8 71 --- --- --- --- PASS OR10G7 390265 broad.mit.edu 37 11 123909270 123909270 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:123909270T>A uc001pzq.1 - 1 439 c.439A>T c.(439-441)ACT>TCT p.T147S NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTGAGCCAAGTGCCGGTGGCC 0.557 9 158 --- --- --- --- PASS CCDC15 80071 broad.mit.edu 37 11 124857428 124857428 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:124857428A>G uc001qbm.3 + 8 1565 c.1306A>G c.(1306-1308)AAA>GAA p.K436E NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 436 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) TGTTCTCCCTAAAGACCAGAG 0.423 8 66 --- --- --- --- PASS KCNJ5 3762 broad.mit.edu 37 11 128781411 128781411 + Silent SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:128781411G>T uc001qet.2 + 2 557 c.243G>T c.(241-243)CTG>CTT p.L81L KCNJ5_uc009zck.2_Silent_p.L81L|KCNJ5_uc001qew.2_Silent_p.L81L NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 81 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCACCACCCTGGTGGACCTCA 0.552 8 84 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 131781454 131781454 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr11:131781454A>G uc001qgp.2 + 1 743 c.79A>G c.(79-81)ACA>GCA p.T27A NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron|NTM_uc010sci.1_Intron|NTM_uc010scj.1_Intron|NTM_uc001qgo.2_Missense_Mutation_p.T27A|NTM_uc001qgq.2_Missense_Mutation_p.T27A NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 27 cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 CCTTGTACCCACAGGAGTGCC 0.627 OREG0021537 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 45 --- --- --- --- PASS PLBD1 79887 broad.mit.edu 37 12 14689564 14689564 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:14689564T>A uc001rcc.1 - 5 800 c.639A>T c.(637-639)AAA>AAT p.K213N NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 213 lipid catabolic process extracellular region hydrolase activity 0 GGCTGCCGTTTTTTGTGGGAG 0.448 12 76 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22678621 22678621 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:22678621T>C uc001rfq.2 - 5 596 c.368A>G c.(367-369)AAT>AGT p.N123S KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.N123S|KIAA0528_uc010sit.1_Missense_Mutation_p.N123S|KIAA0528_uc010siu.1_Missense_Mutation_p.N123S|KIAA0528_uc001rfr.2_Missense_Mutation_p.N123S|KIAA0528_uc009ziy.1_Missense_Mutation_p.N123S NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 123 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GACAACTACATTGATTTCCCC 0.284 14 134 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40748141 40748141 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:40748141A>G uc001rmg.3 + 45 6738 c.6617A>G c.(6616-6618)CAT>CGT p.H2206R LRRK2_uc009zjw.2_Missense_Mutation_p.H1044R|LRRK2_uc001rmi.2_Missense_Mutation_p.H1039R NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2206 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GCCTTGGTGCATCTTCCTGTT 0.393 9 48 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45168619 45168619 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:45168619T>C uc001rog.2 - 9 1500 c.905A>G c.(904-906)CAG>CGG p.Q302R NELL2_uc001rof.3_Missense_Mutation_p.Q301R|NELL2_uc001roh.2_Missense_Mutation_p.Q302R|NELL2_uc009zkd.2_Missense_Mutation_p.Q301R|NELL2_uc010skz.1_Missense_Mutation_p.Q352R|NELL2_uc010sla.1_Missense_Mutation_p.Q325R|NELL2_uc001roi.1_Missense_Mutation_p.Q302R|NELL2_uc010slb.1_Missense_Mutation_p.Q301R|NELL2_uc001roj.2_Missense_Mutation_p.Q302R NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 302 VWFC 1. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AGTTTCACACTGGATGGTTCC 0.358 OREG0021741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 --- --- --- --- PASS PDE1B 5153 broad.mit.edu 37 12 54966472 54966472 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:54966472G>T uc001sgd.1 + 7 848 c.682G>T c.(682-684)GCA>TCA p.A228S PDE1B_uc010soz.1_Missense_Mutation_p.A91S|PDE1B_uc010spa.1_Missense_Mutation_p.A187S|PDE1B_uc001sgf.2_Missense_Mutation_p.A91S|PDE1B_uc001sge.2_Missense_Mutation_p.A208S|PDE1B_uc009znq.2_Missense_Mutation_p.A24S NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 228 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CCAGATCCACGCAGCCGATGT 0.512 22 274 --- --- --- --- PASS GRIP1 23426 broad.mit.edu 37 12 66765701 66765701 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:66765701T>C uc001stk.2 - 22 2870 c.2629A>G c.(2629-2631)ATC>GTC p.I877V GRIP1_uc010sta.1_Missense_Mutation_p.I821V|GRIP1_uc001stj.2_Missense_Mutation_p.I644V|GRIP1_uc001stl.1_Missense_Mutation_p.I754V|GRIP1_uc001stm.2_Missense_Mutation_p.I862V NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 929 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CCCGACATGATTGTTGCCTGT 0.517 4 46 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444382 75444382 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:75444382G>A uc001sxg.1 - 3 1947 c.1403C>T c.(1402-1404)CCA>CTA p.P468L KCNC2_uc009zry.2_Missense_Mutation_p.P468L|KCNC2_uc001sxe.2_Missense_Mutation_p.P468L|KCNC2_uc001sxf.2_Missense_Mutation_p.P468L|KCNC2_uc010stw.1_Missense_Mutation_p.P468L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 468 Helical; Name=Segment S6; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 GACAGGCACTGGCATGGCTAT 0.498 4 40 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94641745 94641745 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr12:94641745C>G uc001tdc.2 + 13 2704 c.2455C>G c.(2455-2457)CGC>GGC p.R819G NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 819 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TTCAAAAGTGCGCACGAATGT 0.463 5 79 --- --- --- --- PASS MTMR6 9107 broad.mit.edu 37 13 25823431 25823431 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr13:25823431A>G uc001uqf.3 - 14 2124 c.1805T>C c.(1804-1806)TTT>TCT p.F602S MTMR6_uc001uqe.1_Intron NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 602 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TGATTTAGAAAACTCTTCTGC 0.413 4 66 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109644761 109644761 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr13:109644761G>T uc001vqt.1 + 21 2467 c.2341G>T c.(2341-2343)GGT>TGT p.G781C MYO16_uc010agk.1_Missense_Mutation_p.G803C|MYO16_uc001vqu.1_Missense_Mutation_p.G581C|MYO16_uc010tjh.1_Missense_Mutation_p.G293C NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 781 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GGACATTTTTGGTTTTGAAGA 0.313 11 43 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20403871 20403871 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:20403871G>C uc001vwj.1 + 1 46 c.46G>C c.(46-48)GGA>CGA p.G16R NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGTACTTTTGGGACTCTCTAA 0.343 20 211 --- --- --- --- PASS PCK2 5106 broad.mit.edu 37 14 24573040 24573040 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:24573040C>T uc001wlt.2 + 10 1922 c.1790C>T c.(1789-1791)TCC>TTC p.S597F NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Missense_Mutation_p.S463F|PCK2_uc010tnx.1_Missense_Mutation_p.S463F|PCK2_uc001wlu.3_Missense_Mutation_p.S431F NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 597 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) CAGCTGTTCTCCCTCCCCAAG 0.577 8 50 --- --- --- --- PASS POLE2 5427 broad.mit.edu 37 14 50130032 50130032 + Splice_Site SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:50130032C>G uc001wwu.2 - 10 769 c.755_splice c.e10+1 p.R252_splice SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Splice_Site|POLE2_uc001wwv.2_Splice_Site|POLE2_uc010ano.2_Splice_Site NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) CATTTTAATACCTAGTAGTAC 0.378 6 40 --- --- --- --- PASS SLC39A9 55334 broad.mit.edu 37 14 69922539 69922539 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:69922539G>T uc001xle.2 + 6 1329 c.649G>T c.(649-651)GCA>TCA p.A217S SLC39A9_uc010aqx.2_Missense_Mutation_p.A194S|SLC39A9_uc001xlf.3_Missense_Mutation_p.A217S|SLC39A9_uc001xlg.3_RNA NM_018375 NP_060845 Q9NUM3 S39A9_HUMAN solute carrier family 39 (zinc transporter), 217 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) CTTTGCATTGGCAGCACCAGT 0.438 4 87 --- --- --- --- PASS NEK9 91754 broad.mit.edu 37 14 75558095 75558095 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:75558095G>A uc001xrl.2 - 19 2474 c.2320C>T c.(2320-2322)CCA>TCA p.P774S NEK9_uc001xrj.2_5'UTR|NEK9_uc001xrk.2_Missense_Mutation_p.P274S NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 774 Pro/Ser/Thr-rich.|Interaction with NEK6. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) CCTCCACTTGGGTCAGGAGTT 0.567 5 44 --- --- --- --- PASS C14orf143 90141 broad.mit.edu 37 14 90263621 90263621 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:90263621T>C uc001xxt.2 - 6 543 c.458A>G c.(457-459)GAA>GGA p.E153G C14orf143_uc001xxs.2_Missense_Mutation_p.E129G NM_145231 NP_660274 Q9BUY7 EFC11_HUMAN hypothetical protein LOC90141 153 EF-hand 3. calcium ion binding 0 all_cancers(154;0.136) Epithelial(152;0.194) CAGGGCATATTCAAAGTCTCT 0.398 5 46 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96783592 96783592 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:96783592G>T uc001yfi.2 - 20 3465 c.3100C>A c.(3100-3102)CGT>AGT p.R1034S NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1034 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) CTGCGAGAACGATAGTTGGGA 0.358 6 48 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106208314 106208314 + RNA SNP A T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr14:106208314A>T uc010tyt.1 - 3627 c.58900T>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Missense_Mutation_p.W62R|uc001ysf.2_Missense_Mutation_p.W62R Parts of antibodies, mostly variable regions. 0 CCATTCAGCCAGTCCTGGTGC 0.592 6 166 --- --- --- --- PASS SNORD116-1 100033413 broad.mit.edu 37 15 25296707 25296707 + RNA SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr15:25296707G>C uc001yxg.2 + 1 c.85G>C NR_003316 Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), non-coding RNA. 0 ATTCTCATCGGAACTGAGGTC 0.478 11 68 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28492038 28492038 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr15:28492038C>G uc001zbj.2 - 22 3347 c.3241G>C c.(3241-3243)GAG>CAG p.E1081Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1081 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCCATTAGCTCTGGACCTTGA 0.428 3 38 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20563569 20563569 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr16:20563569C>A uc002dhj.3 - 7 1001 c.791G>T c.(790-792)GGT>GTT p.G264V ACSM2B_uc002dhk.3_Missense_Mutation_p.G264V|ACSM2B_uc010bwf.1_Missense_Mutation_p.G264V NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 264 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CAGTATCCAACCTGTGTCTGA 0.433 12 128 --- --- --- --- PASS SCNN1G 6340 broad.mit.edu 37 16 23197812 23197812 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr16:23197812C>T uc002dlm.1 + 2 359 c.220C>T c.(220-222)CTC>TTC p.L74F NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 74 Helical; (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GTGCGCCCTCCTCGTCTTCTC 0.582 3 49 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31382999 31382999 + Missense_Mutation SNP G A A rs146647978 byFrequency TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr16:31382999G>A uc002ebu.1 + 17 2121 c.2054G>A c.(2053-2055)CGC>CAC p.R685H ITGAX_uc002ebt.2_Missense_Mutation_p.R685H NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 685 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GACCCTGGCCGCCTGAGTCCC 0.607 4 45 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50756589 50756589 + Missense_Mutation SNP G T T rs104895453 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr16:50756589G>T uc002egm.1 + 8 2876 c.2771G>T c.(2770-2772)GGT>GTT p.G924V NOD2_uc010cbl.1_Missense_Mutation_p.G674V|NOD2_uc010cbm.1_Missense_Mutation_p.G674V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_Missense_Mutation_p.G62V|NOD2_uc010cbr.1_RNA|NOD2_uc010vgq.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 924 G -> D (associated with Crohn disease). activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) GAAGCCTTGGGTGATCACCAG 0.557 26 231 --- --- --- --- PASS RPGRIP1L 23322 broad.mit.edu 37 16 53730170 53730170 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr16:53730170T>C uc002ehp.2 - 3 187 c.123A>G c.(121-123)GCA>GCG p.A41A RPGRIP1L_uc002eho.3_Silent_p.A41A|RPGRIP1L_uc010vgy.1_Silent_p.A41A|RPGRIP1L_uc010cbx.2_Silent_p.A41A|RPGRIP1L_uc010vgz.1_Silent_p.A41A|RPGRIP1L_uc002ehq.1_Silent_p.A41A|RPGRIP1L_uc010cby.1_Silent_p.A41A NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 41 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) CACGTGACACTGCCTGGCGAG 0.403 8 141 --- --- --- --- PASS CPNE7 27132 broad.mit.edu 37 16 89650453 89650453 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr16:89650453C>A uc002fnp.2 + 6 805 c.675C>A c.(673-675)ATC>ATA p.I225I CPNE7_uc002fnq.2_Silent_p.I150I NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 225 lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCGAGGACATCTCGGGGAACA 0.706 4 39 --- --- --- --- PASS OR1D2 4991 broad.mit.edu 37 17 2996153 2996153 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr17:2996153G>A uc010vrb.1 - 1 138 c.138C>T c.(136-138)ATC>ATT p.I46I NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 46 Helical; Name=1; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 TGATGGCCAGGATGATGAGCA 0.547 8 63 --- --- --- --- PASS NEURL4 84461 broad.mit.edu 37 17 7230235 7230235 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr17:7230235G>A uc002gga.1 - 4 894 c.887C>T c.(886-888)CCG>CTG p.P296L NEURL4_uc002ggb.1_Missense_Mutation_p.P296L|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 296 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 TTCCCCTGCCGGTGGGGAGCT 0.562 3 36 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10450814 10450814 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr17:10450814C>G uc010coi.2 - 4 454 c.326G>C c.(325-327)CGT>CCT p.R109P uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R109P|MYH2_uc010coj.2_Missense_Mutation_p.R109P NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 109 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 GGCTGCATAACGTTCTTTGAG 0.483 13 97 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11642197 11642197 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr17:11642197G>T uc002gne.2 + 29 5883 c.5815G>T c.(5815-5817)GTA>TTA p.V1939L DNAH9_uc010coo.2_Missense_Mutation_p.V1233L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1939 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGTTCACCAGGTAAAAAGCAT 0.448 5 51 --- --- --- --- PASS TTLL6 284076 broad.mit.edu 37 17 46847213 46847213 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr17:46847213G>T uc010wlo.1 - 15 2322 c.2287C>A c.(2287-2289)CTA>ATA p.L763I TTLL6_uc002iob.2_Missense_Mutation_p.L456I|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.L516I|TTLL6_uc002iod.2_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 715 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 TCACTCTTTAGCAAAGTCCAG 0.463 4 48 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51900915 51900915 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr17:51900915G>A uc002iua.2 + 1 677 c.521G>A c.(520-522)CGC>CAC p.R174H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 174 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CGAGCTAGACGCGCCCTCGAT 0.547 7 64 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54605772 54605772 + Missense_Mutation SNP A C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr18:54605772A>C uc002lgk.1 + 24 4051 c.3840A>C c.(3838-3840)AGA>AGC p.R1280S WDR7_uc002lgl.1_Missense_Mutation_p.R1247S NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1280 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) AGGTACACAGACATACGGCTC 0.348 5 41 --- --- --- --- PASS ATP8B1 5205 broad.mit.edu 37 18 55317699 55317699 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr18:55317699T>A uc002lgw.2 - 26 3431 c.3431A>T c.(3430-3432)TAC>TTC p.Y1144F uc002lgu.1_Intron|uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 1144 Helical; (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) TAACCAAATGTATGGCTGTCT 0.413 Byler_disease 3 32 --- --- --- --- PASS ZCCHC2 54877 broad.mit.edu 37 18 60241357 60241357 + Silent SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr18:60241357C>G uc002lip.3 + 13 2043 c.2043C>G c.(2041-2043)GTC>GTG p.V681V ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.V151V NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 681 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 ACGGTTCTGTCAACCAGACTG 0.398 4 76 --- --- --- --- PASS TMPRSS9 360200 broad.mit.edu 37 19 2413785 2413785 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:2413785G>A uc010xgx.1 + 9 1240 c.1240G>A c.(1240-1242)GAA>AAA p.E414K TMPRSS9_uc002lvv.1_Missense_Mutation_p.E448K NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 414 Extracellular (Potential).|Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGTGTGCGGAAGCCCGGCG 0.647 6 57 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9060192 9060192 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:9060192G>C uc002mkp.2 - 3 27458 c.27254C>G c.(27253-27255)TCT>TGT p.S9085C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9087 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCCCCAGGAGAACCTGTTTG 0.468 3 67 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9577721 9577721 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:9577721C>A uc002mlp.1 - 10 2112 c.1902G>T c.(1900-1902)GGG>GGT p.G634G ZNF560_uc010dwr.1_Silent_p.G528G NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 634 C2H2-type 11; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CAAAGGCTTTCCCACAGTCCT 0.378 6 92 --- --- --- --- PASS ZNF563 147837 broad.mit.edu 37 19 12429653 12429653 + Nonsense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:12429653T>A uc002mtp.2 - 4 1424 c.1186A>T c.(1186-1188)AAG>TAG p.K396* NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 396 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCACATATCTTGCATTTATGA 0.428 10 146 --- --- --- --- PASS CD97 976 broad.mit.edu 37 19 14517527 14517527 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:14517527T>C uc002myl.2 + 16 2187 c.2064T>C c.(2062-2064)TTT>TTC p.F688F CD97_uc002mym.2_Silent_p.F639F|CD97_uc002myn.2_Silent_p.F595F NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 688 Extracellular (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 GGTTGGACTTTGAGCAGGGCT 0.622 OREG0025312 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 117 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19654982 19654982 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:19654982G>T uc002nmv.3 + 8 1713 c.1628G>T c.(1627-1629)CGA>CTA p.R543L CILP2_uc002nmw.3_Missense_Mutation_p.R549L NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 543 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 TTTGATCCTCGAGGTGCCGGC 0.607 3 44 --- --- --- --- PASS RASGRP4 115727 broad.mit.edu 37 19 38911761 38911761 + Silent SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:38911761G>C uc002oir.2 - 3 502 c.288C>G c.(286-288)GCC>GCG p.A96A RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Silent_p.A96A|RASGRP4_uc010xub.1_Silent_p.A96A|RASGRP4_uc010xuc.1_Silent_p.A96A|RASGRP4_uc010xud.1_Silent_p.A96A|RASGRP4_uc010xue.1_Silent_p.A96A|RASGRP4_uc010egb.2_Silent_p.A96A NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 96 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGCCAGGTCGGCGGACGGCA 0.632 11 49 --- --- --- --- PASS ZNF230 7773 broad.mit.edu 37 19 44515309 44515309 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:44515309A>G uc002oyb.1 + 5 1369 c.1118A>G c.(1117-1119)TAC>TGC p.Y373C NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 373 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) GGGAAGGGCTACATTAGTAAG 0.458 10 45 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52001375 52001375 + Silent SNP A T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:52001375A>T uc002pwx.1 - 5 1358 c.1302T>A c.(1300-1302)CCT>CCA p.P434P SIGLEC12_uc002pww.1_Silent_p.P316P|SIGLEC12_uc010eoy.1_Silent_p.P161P NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 434 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CATGCACTCGAGGCAGCTCCA 0.607 3 25 --- --- --- --- PASS LENG8 114823 broad.mit.edu 37 19 54963896 54963896 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:54963896A>G uc002qfv.1 + 4 424 c.280A>G c.(280-282)AAC>GAC p.N94D LENG8_uc002qfw.2_Missense_Mutation_p.N94D Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 94 Tyr-rich. protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CCAGCAGTACAACTATGCCTA 0.418 9 59 --- --- --- --- PASS ZNF584 201514 broad.mit.edu 37 19 58926981 58926981 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr19:58926981G>T uc002qsp.2 + 3 712 c.260G>T c.(259-261)AGC>ATC p.S87I ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.S42I|ZNF584_uc010yib.1_Missense_Mutation_p.S79I NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN zinc finger protein 584 87 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) ACTCCAGTCAGCAGAGCAGAA 0.552 3 38 --- --- --- --- PASS TRIB3 57761 broad.mit.edu 37 20 368895 368895 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr20:368895C>T uc002wdm.2 + 2 747 c.241C>T c.(241-243)CGG>TGG p.R81W TRIB3_uc002wdn.2_Missense_Mutation_p.R108W NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 81 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GGAGGGCGGGCGGGCCTACCA 0.667 4 55 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20592039 20592039 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr20:20592039T>C uc002wrz.2 - 14 1863 c.1720A>G c.(1720-1722)ACA>GCA p.T574A RALGAPA2_uc010gcx.2_Missense_Mutation_p.T278A|RALGAPA2_uc010zsg.1_Intron NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 574 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 ACAGCTTCTGTTATCCTGAGT 0.378 20 178 --- --- --- --- PASS CTSZ 1522 broad.mit.edu 37 20 57581519 57581519 + Silent SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr20:57581519C>T uc002yai.2 - 2 291 c.165G>A c.(163-165)GAG>GAA p.E55E CTSZ_uc002yaj.3_Silent_p.E55E NM_001336 NP_001327 Q9UBR2 CATZ_HUMAN cathepsin Z preproprotein 55 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity kidney(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) GGGACAGGTACTCATGAGGCC 0.637 3 38 --- --- --- --- PASS KRTAP22-1 337979 broad.mit.edu 37 21 31973550 31973550 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr21:31973550G>T uc011add.1 + 1 111 c.111G>T c.(109-111)TGG>TGT p.W37C KRTAP6-2_uc011adc.1_5'Flank NM_181620 NP_853651 Q3MIV0 KR221_HUMAN keratin associated protein 22-1 37 intermediate filament 0 ACTGCCCATGGTGTTATGAAA 0.478 12 139 --- --- --- --- PASS KRTAP10-6 386674 broad.mit.edu 37 21 46011355 46011355 + Silent SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr21:46011355C>T uc002zfm.2 - 1 1032 c.1011G>A c.(1009-1011)ACG>ACA p.T337T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 337 29.|29 X 5 AA repeats of C-C-X(3). keratin filament 0 CACAGGAGGCCGTGCGGCAGC 0.672 5 48 --- --- --- --- PASS RAC2 5880 broad.mit.edu 37 22 37627422 37627422 + Silent SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr22:37627422T>C uc003arc.2 - 5 414 c.297A>G c.(295-297)CCA>CCG p.P99P NM_002872 NP_002863 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 99 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|central_nervous_system(1)|skin(1) 4 GCCGCACTTCTGGGAACCACT 0.622 6 35 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 39966962 39966962 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr22:39966962C>T uc003ayc.2 + 1 205 c.205C>T c.(205-207)CGG>TGG p.R69W CACNA1I_uc003ayd.2_Missense_Mutation_p.R69W NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 69 Cytoplasmic (Potential).|I. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CACCAGCCCCCGGAACTGGTG 0.637 7 61 --- --- --- --- PASS ENTHD1 150350 broad.mit.edu 37 22 40283671 40283671 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr22:40283671C>T uc003ayg.2 - 2 333 c.82G>A c.(82-84)GAC>AAC p.D28N NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 28 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) CCCCAAGGGTCGTTAGAAGTT 0.393 11 73 --- --- --- --- PASS WBP2NL 164684 broad.mit.edu 37 22 42423062 42423062 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chr22:42423062G>A uc011ape.1 + 7 823 c.807G>A c.(805-807)CCG>CCA p.P269P WBP2NL_uc003bbt.2_Silent_p.P269P|WBP2NL_uc011apk.1_Silent_p.P141P|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 269 Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 ATGAAGGCCCGCCTGCGGGAT 0.592 13 107 --- --- --- --- PASS ARSH 347527 broad.mit.edu 37 X 2951310 2951310 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:2951310C>A uc011mhj.1 + 9 1573 c.1573C>A c.(1573-1575)CCA>ACA p.P525T NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 525 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AACACCTGTCCCACAGCAGTT 0.498 5 24 --- --- --- --- PASS WWC3 55841 broad.mit.edu 37 X 10085324 10085324 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:10085324C>A uc004csx.3 + 11 1423 c.1225C>A c.(1225-1227)CAG>AAG p.Q409K WWC3_uc010nds.2_Missense_Mutation_p.Q73K|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 409 Ser-rich. ovary(4) 4 TGAGGGCAGCCAGCTTCTACG 0.657 6 89 --- --- --- --- PASS WWC3 55841 broad.mit.edu 37 X 10085325 10085325 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:10085325A>G uc004csx.3 + 11 1424 c.1226A>G c.(1225-1227)CAG>CGG p.Q409R WWC3_uc010nds.2_Missense_Mutation_p.Q73R|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 409 Ser-rich. ovary(4) 4 GAGGGCAGCCAGCTTCTACGC 0.657 6 88 --- --- --- --- PASS TLR8 51311 broad.mit.edu 37 X 12939468 12939468 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:12939468A>G uc004cve.2 + 2 2377 c.2309A>G c.(2308-2310)CAC>CGC p.H770R TLR8_uc004cvd.2_Missense_Mutation_p.H788R NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 770 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TTGGAACTACACGGAAACCCC 0.403 14 75 --- --- --- --- PASS CDKL5 6792 broad.mit.edu 37 X 18631345 18631345 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:18631345G>A uc004cym.2 + 15 2479 c.2226G>A c.(2224-2226)GAG>GAA p.E742E CDKL5_uc004cyn.2_Silent_p.E742E NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 742 Missing (in Ref. 4; CAA61445). neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) TACCATCAGAGAGCAGTTCTG 0.368 12 96 --- --- --- --- PASS PDHA1 5160 broad.mit.edu 37 X 19368197 19368197 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:19368197T>C uc004czg.3 + 3 405 c.260T>C c.(259-261)ATT>ACT p.I87T PDHA1_uc004czh.3_Missense_Mutation_p.I122T|PDHA1_uc011mjc.1_Missense_Mutation_p.I84T|PDHA1_uc011mjd.1_Missense_Mutation_p.I84T|PDHA1_uc010nfk.2_Missense_Mutation_p.I84T NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 87 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) CAGAAAATTATTCGTGGTTTC 0.443 12 113 --- --- --- --- PASS FTHL17 53940 broad.mit.edu 37 X 31090069 31090069 + Missense_Mutation SNP A G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:31090069A>G uc004dcl.1 - 1 105 c.2T>C c.(1-3)ATG>ACG p.M1T NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 1 cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 GGCGGTGGCCATGGCGGGCAG 0.647 4 33 --- --- --- --- PASS CYBB 1536 broad.mit.edu 37 X 37670075 37670075 + Nonsense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:37670075G>T uc004ddr.2 + 13 1679 c.1618G>T c.(1618-1620)GAA>TAA p.E540* CYBB_uc011mkf.1_Nonsense_Mutation_p.E508*|CYBB_uc011mkg.1_Nonsense_Mutation_p.E273* NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 540 Cytoplasmic (Potential). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CTGTGGACCTGAAGCCTTGGC 0.423 4 55 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39933922 39933922 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:39933922G>A uc004den.3 - 4 969 c.677C>T c.(676-678)TCC>TTC p.S226F BCOR_uc004dep.3_Missense_Mutation_p.S226F|BCOR_uc004deo.3_Missense_Mutation_p.S226F|BCOR_uc004dem.3_Missense_Mutation_p.S226F|BCOR_uc004deq.3_Missense_Mutation_p.S226F NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 226 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CAAGCTGTAGGACTGCTGAGG 0.557 6 56 --- --- --- --- PASS PFKFB1 5207 broad.mit.edu 37 X 54975507 54975507 + Splice_Site SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:54975507C>A uc004dty.1 - 9 1064 c.993_splice c.e9+1 p.A331_splice PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Splice_Site_p.A266_splice NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 ATGCATCTCACCGCATCAATC 0.562 6 44 --- --- --- --- PASS PAGE5 90737 broad.mit.edu 37 X 55249059 55249059 + Missense_Mutation SNP G C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:55249059G>C uc004duj.2 + 4 498 c.256G>C c.(256-258)GAT>CAT p.D86H PAGE5_uc004duk.2_Missense_Mutation_p.D66H NM_130467 NP_569734 Q96GU1 GGEE1_HUMAN P antigen family, member 5 isoform 1 86 0 TTAAGGGACTGATGTGGAAGC 0.398 10 100 --- --- --- --- PASS MAGEH1 28986 broad.mit.edu 37 X 55479403 55479403 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:55479403C>G uc004dum.2 + 1 866 c.596C>G c.(595-597)TCG>TGG p.S199W NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 199 apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GACTGGGATTCGGACGATGAT 0.493 14 56 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70674030 70674030 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:70674030T>A uc004dzu.3 + 33 4812 c.4761T>A c.(4759-4761)AGT>AGA p.S1587R BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.S1608R|TAF1_uc004dzv.3_Missense_Mutation_p.S761R|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.S12R|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1587 Interaction with ASF1A and ASF1B.|Bromo 2.|Protein kinase 2. PESQYTK -> YMCTTCR (in Ref. 6; CAD87528). G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) GACCTGAGAGTCAGTATACTA 0.373 4 37 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77254002 77254002 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:77254002C>A uc004ecx.3 + 5 1524 c.1364C>A c.(1363-1365)GCT>GAT p.A455D ATP7A_uc004ecw.2_Missense_Mutation_p.A455D NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 455 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 GTAGTAATAGCTCAGCCTTCA 0.393 11 98 --- --- --- --- PASS PGK1 5230 broad.mit.edu 37 X 77359903 77359903 + Splice_Site SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:77359903G>T uc004ecz.3 + 1 237 c.65_splice c.e1+1 p.R22_splice PGK1_uc010nlz.2_Splice_Site|PGK1_uc011mqq.1_5'Flank NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 TCGTTATGAGGTAATTCTGCA 0.507 4 24 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133650 91133650 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:91133650C>A uc004efk.1 + 2 3256 c.2411C>A c.(2410-2412)TCC>TAC p.S804Y PCDH11X_uc004efl.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efo.1_Missense_Mutation_p.S804Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efm.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efn.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efh.1_Missense_Mutation_p.S804Y|PCDH11X_uc004efj.1_Missense_Mutation_p.S804Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 804 Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GCTGATGTATCCTCACCAACT 0.453 9 69 --- --- --- --- PASS DIAPH2 1730 broad.mit.edu 37 X 95993591 95993591 + Nonsense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:95993591C>T uc004efu.3 + 3 568 c.172C>T c.(172-174)CGA>TGA p.R58* DIAPH2_uc004eft.3_Nonsense_Mutation_p.R58*|DIAPH2_uc004efs.2_Nonsense_Mutation_p.R58* NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 58 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 GCAGCGTGACCGAATTACAAG 0.333 3 48 --- --- --- --- PASS SRPX2 27286 broad.mit.edu 37 X 99920283 99920283 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:99920283G>T uc004egb.2 + 6 1056 c.576G>T c.(574-576)AAG>AAT p.K192N NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 192 HYR. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 CACGTGAGAAGATGGCAGAGC 0.527 3 13 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105280989 105280989 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:105280989C>A uc004eme.1 - 1 77 c.61G>T c.(61-63)GCA>TCA p.A21S SERPINA7_uc010npd.2_Missense_Mutation_p.A21S|SERPINA7_uc010npe.1_Missense_Mutation_p.A21S NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 21 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) TCAGGTGATGCACAGTGGATT 0.418 16 88 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106108822 106108822 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:106108822C>T uc004emo.2 + 15 2551 c.2386C>T c.(2386-2388)CTT>TTT p.L796F MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 796 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 GAAATTGAGCCTTCAAGAATT 0.289 7 61 --- --- --- --- PASS PRPS1 5631 broad.mit.edu 37 X 106890869 106890869 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:106890869C>A uc004ene.3 + 6 943 c.738C>A c.(736-738)GCC>GCA p.A246A PRPS1_uc010npg.2_Silent_p.A213A|PRPS1_uc011msj.1_Silent_p.A42A NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 246 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 GAGTTTATGCCATCTTGACTC 0.453 8 107 --- --- --- --- PASS PRPS1 5631 broad.mit.edu 37 X 106890870 106890870 + Missense_Mutation SNP A T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:106890870A>T uc004ene.3 + 6 944 c.739A>T c.(739-741)ATC>TTC p.I247F PRPS1_uc010npg.2_Missense_Mutation_p.I214F|PRPS1_uc011msj.1_Missense_Mutation_p.I43F NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 247 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 AGTTTATGCCATCTTGACTCA 0.448 8 107 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109696544 109696544 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:109696544C>A uc004eor.1 + 3 2945 c.2699C>A c.(2698-2700)CCA>CAA p.P900Q RGAG1_uc011msr.1_Missense_Mutation_p.P900Q NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 900 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GTGTCCTCACCACTAGTAAGA 0.537 10 114 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120181847 120181847 + Silent SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:120181847C>A uc004eto.2 + 1 386 c.309C>A c.(307-309)CGC>CGA p.R103R NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 103 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) ACCGGGTGCGCGGCATCCTGC 0.637 4 47 --- --- --- --- PASS SH2D1A 4068 broad.mit.edu 37 X 123499665 123499665 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:123499665G>T uc004euf.3 + 2 537 c.192G>T c.(190-192)TGG>TGT p.W64C SH2D1A_uc004euh.3_Missense_Mutation_p.W64C|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_Intron|SH2D1A_uc010nqx.2_Intron NM_002351 NP_002342 O60880 SH21A_HUMAN SH2 domain protein 1A isoform 1 64 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity 0 CAGGTTCTTGGAGTGCTGAGG 0.348 X-linked_Lymphoproliferative_syndrome 16 129 --- --- --- --- PASS AIFM1 9131 broad.mit.edu 37 X 129270690 129270690 + Missense_Mutation SNP C T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:129270690C>T uc004evg.2 - 11 1270 c.1092G>A c.(1090-1092)ATG>ATA p.M364I AIFM1_uc011mur.1_Missense_Mutation_p.M12I|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.M360I|AIFM1_uc004evi.2_Missense_Mutation_p.M77I|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 364 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 TAGCATTGGGCATCACCTTAA 0.488 4 44 --- --- --- --- PASS DDX26B 203522 broad.mit.edu 37 X 134681116 134681116 + Missense_Mutation SNP T C C TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:134681116T>C uc004eyw.3 + 6 1031 c.668T>C c.(667-669)CTA>CCA p.L223P NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 223 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) TTAGAATCTCTAGTTCAAAAA 0.333 20 180 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135313040 135313040 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:135313040G>T uc004ezt.2 - 9 1590 c.1499C>A c.(1498-1500)TCT>TAT p.S500Y MAP7D3_uc004ezs.2_Missense_Mutation_p.S464Y|MAP7D3_uc011mwc.1_Missense_Mutation_p.S482Y|MAP7D3_uc010nsa.1_Missense_Mutation_p.S458Y NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 500 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) ATTTTCAGGAGATGATGACCA 0.408 9 77 --- --- --- --- PASS ZIC3 7547 broad.mit.edu 37 X 136649363 136649363 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:136649363G>A uc004fak.2 + 1 1018 c.513G>A c.(511-513)GGG>GGA p.G171G NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 171 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGGGCGCTGGGCACCCGTCGC 0.697 7 55 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140994572 140994572 + Missense_Mutation SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:140994572G>A uc004fbt.2 + 4 1668 c.1382G>A c.(1381-1383)AGT>AAT p.S461N MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 461 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTTTTCCAGAGTTCCCCTGAG 0.488 HNSCC(15;0.026) 20 176 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142717525 142717525 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:142717525C>A uc004fbx.2 - 2 1776 c.1400G>T c.(1399-1401)GGC>GTC p.G467V SLITRK4_uc004fby.2_Missense_Mutation_p.G467V NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 467 Extracellular (Potential).|LRR 10. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GTCAAAGGTGCCTGCTGAGAT 0.388 10 80 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144905921 144905921 + Missense_Mutation SNP T A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:144905921T>A uc004fcd.2 + 5 2968 c.1978T>A c.(1978-1980)TTA>ATA p.L660I SLITRK2_uc010nsp.2_Missense_Mutation_p.L660I|SLITRK2_uc010nso.2_Missense_Mutation_p.L660I|SLITRK2_uc011mwq.1_Missense_Mutation_p.L660I|SLITRK2_uc011mwr.1_Missense_Mutation_p.L660I|SLITRK2_uc011mws.1_Missense_Mutation_p.L660I|SLITRK2_uc004fcg.2_Missense_Mutation_p.L660I|SLITRK2_uc011mwt.1_Missense_Mutation_p.L660I NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 660 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TACCAACAACTTAGACGTAAG 0.458 11 74 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 148035201 148035201 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:148035201G>T uc004fcp.2 + 10 1968 c.1489G>T c.(1489-1491)GAT>TAT p.D497Y AFF2_uc004fcq.2_Missense_Mutation_p.D487Y|AFF2_uc004fcr.2_Missense_Mutation_p.D458Y|AFF2_uc011mxb.1_Missense_Mutation_p.D462Y|AFF2_uc004fcs.2_Missense_Mutation_p.D464Y|AFF2_uc011mxc.1_Missense_Mutation_p.D138Y NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 497 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGAGTCGGATTCAGACAC 0.587 11 97 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151869553 151869553 + Missense_Mutation SNP C A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:151869553C>A uc004ffq.1 + 3 437 c.243C>A c.(241-243)AGC>AGA p.S81R MAGEA6_uc004ffr.1_Missense_Mutation_p.S81R|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 81 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CTCTCTGGAGCCAATCCTATG 0.602 8 42 --- --- --- --- PASS MAGEA12 4111 broad.mit.edu 37 X 151900645 151900645 + Missense_Mutation SNP C G G TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:151900645C>G uc010ntp.2 - 3 510 c.156G>C c.(154-156)GAG>GAC p.E52D MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.E52D|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 52 skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CAGCAGGCACCTCCCGCAGGG 0.612 6 72 --- --- --- --- PASS FAM50A 9130 broad.mit.edu 37 X 153678436 153678436 + Nonsense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:153678436G>T uc004fll.3 + 11 987 c.889G>T c.(889-891)GAG>TAG p.E297* NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 297 spermatogenesis nucleus ovary(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCACTGTGGAGAAGGATGA 0.612 8 89 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154182256 154182256 + Missense_Mutation SNP T A A rs137852427 TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:154182256T>A uc004fmt.2 - 12 1985 c.1814A>T c.(1813-1815)TAC>TTC p.Y605F NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 605 F5/8 type A 2.|Plastocyanin-like 4. Y -> H (in HEMA).|Y -> S (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTCTGTGAGGTACCAGCTTCG 0.423 19 161 --- --- --- --- PASS FUNDC2 65991 broad.mit.edu 37 X 154261815 154261815 + Missense_Mutation SNP G T T TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:154261815G>T uc004fmw.2 + 2 421 c.271G>T c.(271-273)GGT>TGT p.G91C NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 91 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTTCATTGGAGGTGTCACTGG 0.453 9 75 --- --- --- --- PASS SPRY3 10251 broad.mit.edu 37 X 155003644 155003644 + Silent SNP G A A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 7b19ae84-2cab-47e7-87df-46c497da17e0 be106855-927a-4cdd-b779-214d377fb068 g.chrX:155003644G>A uc004fnq.1 + 2 565 c.111G>A c.(109-111)CAG>CAA p.Q37Q SPRY3_uc010nvl.1_Silent_p.Q37Q NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 37 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTGTAAACAGGCCCTCTCCA 0.532 12 95 --- --- --- --- PASS