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 PODN 127435 broad.mit.edu 37 1 53544621 53544621 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:53544621T>A uc001cuv.2 + 8 1590 c.1583T>A c.(1582-1584)CTG>CAG p.L528Q PODN_uc001cuw.2_Missense_Mutation_p.L509Q|PODN_uc010onr.1_Missense_Mutation_p.L509Q|PODN_uc010ons.1_Missense_Mutation_p.L386Q NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 480 LRR 16. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 CTGCGTGAGCTGTACCTCACC 0.667 6 5 --- --- --- --- PASS LRRC42 115353 broad.mit.edu 37 1 54428065 54428065 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:54428065G>C uc001cwj.1 + 6 1110 c.910G>C c.(910-912)GAG>CAG p.E304Q LRRC42_uc001cwl.1_Missense_Mutation_p.E304Q|LRRC42_uc001cwk.1_Missense_Mutation_p.E304Q|LRRC42_uc009vzm.1_Missense_Mutation_p.E304Q NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 304 0 CTGCAAGACAGAGGGCTGGGC 0.443 11 37 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57610988 57610988 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:57610988C>A uc001cys.1 - 5 856 c.182G>T c.(181-183)TGT>TTT p.C61F DAB1_uc001cyt.1_Missense_Mutation_p.C61F|DAB1_uc001cyq.1_Missense_Mutation_p.C61F|DAB1_uc001cyr.1_Missense_Mutation_p.C61F|DAB1_uc009vzw.1_Missense_Mutation_p.C61F|DAB1_uc009vzx.1_Missense_Mutation_p.C61F NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 61 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 GGAATCTTGACATAACTTGTC 0.393 84 50 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70257828 70257828 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:70257828G>C uc001dep.2 + 2 322 c.292G>C c.(292-294)GAC>CAC p.D98H LRRC7_uc001deo.1_Missense_Mutation_p.D136H|LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 98 LRR 4. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TAAAGAACTCGACATCAGTAA 0.299 78 70 --- --- --- --- PASS HHLA3 11147 broad.mit.edu 37 1 70820859 70820859 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:70820859G>A uc001dfa.2 + 1 367 c.225G>A c.(223-225)ATG>ATA p.M75I ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_Intron|HHLA3_uc001dfb.2_Intron|HHLA3_uc001dfc.2_Intron NM_001036645 NP_001031722 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 isoform 2 75 protein binding 0 gaagaggaatgaaggccaaac 0.204 9 15 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74649223 74649223 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:74649223C>A uc001dfy.3 - 2 338 c.146G>T c.(145-147)TGC>TTC p.C49F LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 49 ovary(2) 2 aagagagatgcaagactgcaa 0.149 57 40 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144863397 144863397 + Silent SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:144863397T>C uc001elw.3 - 37 6297 c.6006A>G c.(6004-6006)AAA>AAG p.K2002K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.K1896K|PDE4DIP_uc001elv.3_Silent_p.K1009K|PDE4DIP_uc001ema.2_3'UTR NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2002 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGAGCTGCTGTTTCTCTTCAC 0.527 T PDGFRB MPD 81 288 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152191550 152191550 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:152191550G>A uc001ezt.1 - 3 2631 c.2555C>T c.(2554-2556)TCA>TTA p.S852L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 852 9. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGGAGCTTGATGACTGCCC 0.572 21 71 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156618424 156618424 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:156618424G>A uc001fpp.2 + 6 1170 c.834G>A c.(832-834)CAG>CAA p.Q278Q BCAN_uc001fpo.2_Silent_p.Q278Q NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 278 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGTACTGCCAGGAGCGGGGTG 0.527 46 173 --- --- --- --- PASS VANGL2 57216 broad.mit.edu 37 1 160389286 160389286 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:160389286G>A uc001fwb.1 + 5 986 c.687G>A c.(685-687)GTG>GTA p.V229V VANGL2_uc001fwc.1_Silent_p.V229V NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 229 Helical; Name=4; (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTCTTTTCGTGCACTACCTGG 0.647 24 97 --- --- --- --- PASS HSPA6 3310 broad.mit.edu 37 1 161495444 161495444 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:161495444G>C uc001gap.2 + 2 1656 c.996G>C c.(994-996)CAG>CAC p.Q332H HSPA6_uc001gaq.2_Missense_Mutation_p.Q332H NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 332 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACAAGGCCCAGATTCATGACG 0.602 6 50 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067570 190067570 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:190067570T>A uc001gse.1 - 8 2111 c.1879A>T c.(1879-1881)ATC>TTC p.I627F FAM5C_uc010pot.1_Missense_Mutation_p.I525F NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 627 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CTCAGGTAGATGTGTACTGTC 0.463 125 414 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201030449 201030449 + Silent SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:201030449G>C uc001gvv.2 - 25 3428 c.3201C>G c.(3199-3201)ACC>ACG p.T1067T NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1067 Cytoplasmic (Potential).|Dihydropyridine binding (By similarity).|III. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCTCCTGGAAGGTGACAATGA 0.527 22 81 --- --- --- --- PASS ZC3H11A 9877 broad.mit.edu 37 1 203816789 203816789 + Missense_Mutation SNP G C C rs142558234 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:203816789G>C uc001hac.2 + 15 2136 c.1520G>C c.(1519-1521)CGG>CCG p.R507P ZC3H11A_uc001had.2_Missense_Mutation_p.R507P|ZC3H11A_uc001hae.2_Missense_Mutation_p.R507P|ZC3H11A_uc001haf.2_Missense_Mutation_p.R507P|ZC3H11A_uc010pqm.1_Missense_Mutation_p.R453P|ZC3H11A_uc001hag.1_Missense_Mutation_p.R507P NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 507 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GGGGCAAGGCGGCTGCTGCGA 0.537 24 137 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204438582 204438582 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:204438582G>C uc001haw.2 - 3 828 c.349C>G c.(349-351)CCC>GCC p.P117A PIK3C2B_uc010pqv.1_Missense_Mutation_p.P117A|PIK3C2B_uc001hax.1_Missense_Mutation_p.P117A|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 117 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTGGGCCAGGGATCTGAGCCA 0.572 48 58 --- --- --- --- PASS NUCKS1 64710 broad.mit.edu 37 1 205687487 205687487 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:205687487T>C uc001hdb.2 - 7 913 c.653A>G c.(652-654)AAG>AGG p.K218R NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent 218 nucleus 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGATGTTTTCTTTTCTGGCGG 0.517 236 316 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214826228 214826228 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:214826228A>T uc001hkm.2 + 16 8392 c.8218A>T c.(8218-8220)AGT>TGT p.S2740C NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2836 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGAATGTCTCAGTTCACAGAA 0.333 133 148 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226829751 226829751 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:226829751G>C uc010pvo.1 - 5 2662 c.2322C>G c.(2320-2322)ATC>ATG p.I774M NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 774 Calmodulin-binding (By similarity). ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GGTCCACCTCGATCATCTTCT 0.627 136 163 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237604779 237604779 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:237604779G>A uc001hyl.1 + 13 1286 c.1166G>A c.(1165-1167)CGT>CAT p.R389H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 389 Cytoplasmic (By similarity).|MIR 5. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTATACAACGTAAGGTAAGG 0.358 38 103 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419831 247419831 + Nonsense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:247419831T>A uc010pyu.1 + 2 458 c.458T>A c.(457-459)TTG>TAG p.L153* NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 153 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) ATCTTCTCCTTGGCAAAGCTC 0.488 79 239 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769642 247769642 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:247769642A>T uc010pyz.1 + 1 755 c.755A>T c.(754-756)TAT>TTT p.Y252F NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATTATATTCTATGGCACCATA 0.488 68 78 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248039548 248039548 + Missense_Mutation SNP A C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:248039548A>C uc001ido.2 + 6 1266 c.1218A>C c.(1216-1218)GAA>GAC p.E406D OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 406 B30.2/SPRY. intracellular zinc ion binding p.E406*(1) skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCAACTGGAAAGTCCTCGCT 0.488 103 362 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248570350 248570350 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:248570350A>G uc010pzm.1 + 1 1055 c.1055A>G c.(1054-1056)AAG>AGG p.K352R NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 352 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAGCTCTGAAGAGGGCCTTG 0.522 69 375 --- --- --- --- PASS DYNC2LI1 51626 broad.mit.edu 37 2 44032358 44032358 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:44032358C>T uc002rtk.2 + 12 1062 c.966C>T c.(964-966)GTC>GTT p.V322V DYNC2LI1_uc002rtj.2_Silent_p.V322V|DYNC2LI1_uc002rtl.2_Silent_p.V323V|DYNC2LI1_uc010ynz.1_Silent_p.V196V NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 322 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AAAATGAAGTCGATGAGATGA 0.378 64 79 --- --- --- --- PASS ETAA1 54465 broad.mit.edu 37 2 67630366 67630366 + Silent SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:67630366A>T uc002sdz.1 + 5 691 c.552A>T c.(550-552)ACA>ACT p.T184T NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 184 Potential. cytoplasm|nucleus ovary(3)|large_intestine(1) 4 GGTTAAAAACACAAAGTCAAG 0.259 29 51 --- --- --- --- PASS DUSP11 8446 broad.mit.edu 37 2 73993667 73993667 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:73993667G>A uc002sjp.2 - 8 855 c.813C>T c.(811-813)CTC>CTT p.L271L NM_003584 NP_003575 O75319 DUS11_HUMAN dual specificity phosphatase 11 224 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding skin(1) 1 CTGGTTGCATGAGATGTGCTG 0.418 76 215 --- --- --- --- PASS VPS24 51652 broad.mit.edu 37 2 86769390 86769390 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:86769390C>G uc002srj.2 - 2 220 c.91G>C c.(91-93)GAC>CAC p.D31H VPS24_uc002srk.2_Intron|VPS24_uc002srl.2_Missense_Mutation_p.D31H|VPS24_uc010ytl.1_Missense_Mutation_p.D60H NM_016079 NP_057163 Q9Y3E7 CHMP3_HUMAN vacuolar protein sorting 24 isoform 1 31 Potential.|Intramolecular interaction with C- terminus. cell cycle|cell division|cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1) 1 ATTTGCCTGTCAACAACTCTC 0.328 21 137 --- --- --- --- PASS CNGA3 1261 broad.mit.edu 37 2 99013489 99013489 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:99013489C>T uc002syt.2 + 8 2273 c.1856C>T c.(1855-1857)GCG>GTG p.A619V CNGA3_uc002syu.2_Missense_Mutation_p.A601V|CNGA3_uc010fij.2_Missense_Mutation_p.A623V NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 619 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CTGGCCAGGGCGGGCGCGGAC 0.622 9 31 --- --- --- --- PASS SPOPL 339745 broad.mit.edu 37 2 139326626 139326626 + Silent SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:139326626A>T uc002tvh.2 + 11 1555 c.1155A>T c.(1153-1155)CCA>CCT p.P385P NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 385 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) TTGGCATTCCACGCAAACGGC 0.443 288 301 --- --- --- --- PASS STK39 27347 broad.mit.edu 37 2 169023809 169023809 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:169023809C>A uc002uea.2 - 3 590 c.430G>T c.(430-432)GGT>TGT p.G144C NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 144 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 ATCCACTTACCTCCACTTAGT 0.398 50 41 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179399114 179399114 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:179399114C>T uc010zfg.1 - 307 94748 c.94524G>A c.(94522-94524)AAG>AAA p.K31508K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K25203K|TTN_uc010zfi.1_Silent_p.K25136K|TTN_uc010zfj.1_Silent_p.K25011K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32435 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) CTCTTTCTATCTTCTGCTTCA 0.458 35 145 --- --- --- --- PASS STAT1 6772 broad.mit.edu 37 2 191845378 191845378 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:191845378C>T uc002usj.2 - 19 1988 c.1600G>A c.(1600-1602)GAT>AAT p.D534N STAT1_uc010fse.1_Missense_Mutation_p.D534N|STAT1_uc002usk.2_Missense_Mutation_p.D534N|STAT1_uc002usl.2_Missense_Mutation_p.D536N|STAT1_uc010fsf.1_Missense_Mutation_p.D346N NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 534 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ATGAGACCATCGGGGCTGGCG 0.433 16 64 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950527 198950527 + Silent SNP G A A rs144546582 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:198950527G>A uc010fsp.2 + 2 2577 c.2286G>A c.(2284-2286)TCG>TCA p.S762S PLCL1_uc002uuv.3_Silent_p.S683S NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 762 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CGGATTGTTCGGAACAAAGAA 0.423 56 173 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201515770 201515770 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:201515770T>A uc002uvx.2 + 26 3022 c.2921T>A c.(2920-2922)ATC>AAC p.I974N AOX1_uc010zhf.1_Missense_Mutation_p.I530N|AOX1_uc010fsu.2_Missense_Mutation_p.I340N NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 974 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AAGAACCTAATCCAGTGTTGG 0.393 89 98 --- --- --- --- PASS B3GNT7 93010 broad.mit.edu 37 2 232263482 232263482 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:232263482G>A uc002vrs.2 + 2 1232 c.1052G>A c.(1051-1053)GGC>GAC p.G351D NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 351 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AAGACTTTCGGCATCTCCCGG 0.637 8 44 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 3081782 3081782 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:3081782A>G uc003bpc.2 + 19 2446 c.2225A>G c.(2224-2226)TAC>TGC p.Y742C CNTN4_uc003bpb.1_Missense_Mutation_p.Y413C|CNTN4_uc003bpe.2_Missense_Mutation_p.Y414C|CNTN4_uc003bpf.2_Missense_Mutation_p.Y413C|CNTN4_uc003bpg.2_5'UTR NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 742 Fibronectin type-III 2. 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) TTCCGGCCCTACGGTAAAATG 0.517 44 49 --- --- --- --- PASS VHL 7428 broad.mit.edu 37 3 10183766 10183766 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:10183766C>G uc003bvc.2 + 1 448 c.235C>G c.(235-237)CGC>GGC p.R79G VHL_uc003bvd.2_Missense_Mutation_p.R79G NM_000551 NP_000542 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor isoform 1 79 R -> P (in VHLD). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.F76fs*80(2)|p.R79fs*80(2)|p.S72_V87>L(1)|p.R79R(1)|p.R60fs*35(1)|p.R79P(1)|p.R79_P81>P(1)|p.C77_R79del(1)|p.N78_R79insN(1)|p.R79H(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.F76fs*81(1)|p.R79fs*52(1)|p.R79fs*88(1) kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1) 1346 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) CTTCTGCAATCGCAGTCCGCG 0.711 1 D|Mis|N|F|S renal|hemangioma|pheochromocytoma renal|hemangioma|pheochromocytoma von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial 5 9 --- --- --- --- PASS EPM2AIP1 9852 broad.mit.edu 37 3 37032748 37032748 + Silent SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:37032748T>C uc003cgk.2 - 1 2048 c.1821A>G c.(1819-1821)CCA>CCG p.P607P MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 607 endoplasmic reticulum 0 CAAAGCCTTATGGATTAGATT 0.368 44 65 --- --- --- --- PASS CSRNP1 64651 broad.mit.edu 37 3 39185792 39185792 + Nonsense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:39185792G>A uc003cjg.2 - 4 830 c.616C>T c.(616-618)CGA>TGA p.R206* CSRNP1_uc003cjh.2_Nonsense_Mutation_p.R206* NM_033027 NP_149016 Q96S65 CSRN1_HUMAN AXIN1 up-regulated 1 206 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(4)|skin(1) 5 GCTCGACGTCGCCGGGCTGGG 0.632 58 54 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42729785 42729785 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:42729785A>G uc003clv.1 + 2 1404 c.1304A>G c.(1303-1305)TAC>TGC p.Y435C NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 435 Kelch 2. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) GTCATGTGCTACGACAGGCTG 0.647 15 13 --- --- --- --- PASS KIF15 56992 broad.mit.edu 37 3 44882596 44882596 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:44882596C>A uc003cnx.3 + 29 3600 c.3451C>A c.(3451-3453)CAT>AAT p.H1151N KIF15_uc010hiq.2_Missense_Mutation_p.H1054N|KIF15_uc010hir.2_Missense_Mutation_p.H199N NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 1151 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTTTCAAACACATTTGGCAAA 0.338 20 41 --- --- --- --- PASS BAP1 8314 broad.mit.edu 37 3 52443746 52443746 + Silent SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:52443746C>A uc003ddx.2 - 2 166 c.51G>T c.(49-51)CTG>CTT p.L17L PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 17 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.?(1) pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTTCCACGAGCAGGGTGAAGA 0.692 N|Mis|F|S|O uveal melanoma|breast|NSCLC 3 38 --- --- --- --- PASS CRYBG3 131544 broad.mit.edu 37 3 97660112 97660112 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:97660112C>G uc003drx.2 + 17 2846 c.2782C>G c.(2782-2784)CAG>GAG p.Q928E CRYBG3_uc010hoz.1_RNA NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 AAAGAATACTCAGATCTGGTA 0.433 52 218 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124351436 124351436 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:124351436G>T uc003ehg.2 + 35 5473 c.5346G>T c.(5344-5346)AAG>AAT p.K1782N KALRN_uc003ehi.2_Missense_Mutation_p.K155N|KALRN_uc003ehk.2_Missense_Mutation_p.K85N|KALRN_uc003ehj.2_Missense_Mutation_p.K85N NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1782 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ACAGCGGGAAGGCAGATGGAA 0.557 62 123 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140407277 140407277 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:140407277C>A uc003eto.1 + 3 1944 c.1753C>A c.(1753-1755)CAG>AAG p.Q585K NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 585 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CCAGTCTGTACAGAACAGCAG 0.577 71 123 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179616027 179616027 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr3:179616027C>T uc003fki.1 - 3 231 c.101G>A c.(100-102)GGC>GAC p.G34D PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Missense_Mutation_p.G32D|PEX5L_uc011bqg.1_Missense_Mutation_p.G10D|PEX5L_uc011bqh.1_Intron NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 34 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CGCCCTAGAGCCTTTTCCCTA 0.418 80 160 --- --- --- --- PASS IDUA 3425 broad.mit.edu 37 4 995294 995294 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:995294G>A uc003gby.2 + 5 620 c.532G>A c.(532-534)GAG>AAG p.E178K IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.E131K NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 178 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GTGGAACTTCGAGACGTGGAA 0.597 40 135 --- --- --- --- PASS IDUA 3425 broad.mit.edu 37 4 995327 995327 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:995327G>C uc003gby.2 + 5 653 c.565G>C c.(565-567)GAC>CAC p.D189H IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.D142H NM_000203 NP_000194 P35475 IDUA_HUMAN alpha-L-iduronidase precursor 189 disaccharide metabolic process lysosome cation binding|L-iduronidase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CCACGACTTTGACAACGTCTC 0.602 39 107 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9784478 9784478 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:9784478C>A uc003gmb.3 + 1 1221 c.825C>A c.(823-825)AGC>AGA p.S275R NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 275 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCGGAGCAGCGCAGCCTGCG 0.637 8 65 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65275039 65275039 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:65275039C>T uc003hcv.2 - 1 140 c.31G>A c.(31-33)GAA>AAA p.E11K TECRL_uc003hcw.2_Missense_Mutation_p.E11K NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 11 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CTCTTGCGTTCCGAAGCGAGG 0.418 101 86 --- --- --- --- PASS PDE5A 8654 broad.mit.edu 37 4 120419875 120419875 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:120419875C>T uc003idh.2 - 21 2664 c.2509G>A c.(2509-2511)GAG>AAG p.E837K uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.E795K|PDE5A_uc003idg.2_Missense_Mutation_p.E785K NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 837 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAACAGTCCTCTGACACGTGG 0.502 4 155 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159559192 159559192 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:159559192A>G uc003ipz.2 + 13 1086 c.1004A>G c.(1003-1005)CAA>CGA p.Q335R RXFP1_uc010iqj.1_Missense_Mutation_p.Q164R|RXFP1_uc011cja.1_Missense_Mutation_p.Q230R|RXFP1_uc010iqo.2_Intron|RXFP1_uc011cjb.1_Intron|RXFP1_uc010iqk.2_Missense_Mutation_p.Q203R|RXFP1_uc011cjc.1_Missense_Mutation_p.Q254R|RXFP1_uc011cjd.1_Missense_Mutation_p.Q254R|RXFP1_uc010iql.2_Missense_Mutation_p.Q179R|RXFP1_uc011cje.1_Missense_Mutation_p.Q362R|RXFP1_uc010iqm.2_Missense_Mutation_p.Q302R|RXFP1_uc011cjf.1_Missense_Mutation_p.Q205R|RXFP1_uc010iqn.2_Missense_Mutation_p.Q281R NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 335 Extracellular (Potential).|LRR 8. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CAGAAAATTCAAGCAAACCAA 0.289 18 62 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924632 188924632 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:188924632A>G uc003izg.1 + 3 916 c.671A>G c.(670-672)AAA>AGA p.K224R ZFP42_uc003izh.1_Missense_Mutation_p.K224R|ZFP42_uc003izi.1_Missense_Mutation_p.K224R NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 224 C2H2-type 2. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAATGTGGGAAAGCGTTCGTT 0.507 28 104 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41313840 41313840 + Missense_Mutation SNP G T T rs144321987 byFrequency TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:41313840G>T uc003jmm.1 - 3 947 c.845C>A c.(844-846)ACG>AAG p.T282K NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 282 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TGGCTTCTGCGTGCGGACCCA 0.423 33 25 --- --- --- --- PASS FNIP1 96459 broad.mit.edu 37 5 131008213 131008213 + Nonsense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:131008213C>A uc003kvs.1 - 14 2066 c.1924G>T c.(1924-1926)GGA>TGA p.G642* RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Nonsense_Mutation_p.G614*|FNIP1_uc010jdm.1_Nonsense_Mutation_p.G597* NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 642 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCTGAAATTCCTAGCAGCTCC 0.373 173 159 --- --- --- --- PASS AFF4 27125 broad.mit.edu 37 5 132232283 132232283 + Nonsense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:132232283G>T uc003kyd.2 - 11 2447 c.2039C>A c.(2038-2040)TCA>TAA p.S680* AFF4_uc011cxk.1_Nonsense_Mutation_p.S358*|AFF4_uc003kye.1_Nonsense_Mutation_p.S680* NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 680 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCCTCCACTGAGGAGGGTTT 0.478 90 67 --- --- --- --- PASS PCDHB3 56132 broad.mit.edu 37 5 140481455 140481455 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:140481455G>A uc003lio.2 + 1 1222 c.1222G>A c.(1222-1224)GCG>ACG p.A408T uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 408 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCAGAAGGCGCGCTGGACAG 0.483 37 74 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140573030 140573030 + Missense_Mutation SNP T G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:140573030T>G uc003lix.2 + 1 1079 c.905T>G c.(904-906)TTT>TGT p.F302C NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 302 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGGAAATCTTTCTCAGAGAA 0.373 43 97 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140740522 140740522 + Missense_Mutation SNP A C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:140740522A>C uc003ljs.1 + 1 820 c.820A>C c.(820-822)AAC>CAC p.N274H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.N274H NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 274 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGGCATAAACGCAGAGAT 0.478 14 47 --- --- --- --- PASS PPARGC1B 133522 broad.mit.edu 37 5 149213089 149213089 + Nonsense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:149213089G>T uc003lrc.2 + 5 1495 c.1453G>T c.(1453-1455)GAG>TAG p.E485* PPARGC1B_uc003lrb.1_Nonsense_Mutation_p.E485*|PPARGC1B_uc003lrd.2_Nonsense_Mutation_p.E446*|PPARGC1B_uc003lrf.2_Nonsense_Mutation_p.E464*|PPARGC1B_uc003lre.1_Nonsense_Mutation_p.E464* NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 485 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACTGAACCCTGAGCTGGGCCC 0.662 7 1 --- --- --- --- PASS CCNJL 79616 broad.mit.edu 37 5 159680620 159680620 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr5:159680620C>A uc003lyb.1 - 7 1325 c.1073G>T c.(1072-1074)CGG>CTG p.R358L CCNJL_uc011dee.1_Missense_Mutation_p.R310L|CCNJL_uc003lyc.1_RNA NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 358 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAAGGAGTCCCGATAGGCCAA 0.647 52 35 --- --- --- --- PASS PRPF4B 8899 broad.mit.edu 37 6 4032628 4032628 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:4032628A>G uc003mvv.2 + 2 968 c.877A>G c.(877-879)AGA>GGA p.R293G PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 293 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) TAAAAAATCCAGATCCCCAGT 0.338 54 103 --- --- --- --- PASS SLC17A2 10246 broad.mit.edu 37 6 25917239 25917239 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:25917239A>T uc011dkb.1 - 6 809 c.726T>A c.(724-726)AGT>AGA p.S242R SLC17A2_uc011dkc.1_Missense_Mutation_p.S242R|SLC17A2_uc003nfl.2_Missense_Mutation_p.S242R O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 242 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 TTTCCCTAACACTTATGCACG 0.512 29 67 --- --- --- --- PASS HIST1H2BF 8343 broad.mit.edu 37 6 26200140 26200140 + Silent SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:26200140C>A uc003ngx.2 + 1 354 c.354C>A c.(352-354)GCC>GCA p.A118A HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 118 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) GCACCAAGGCCGTCACCAAGT 0.542 27 61 --- --- --- --- PASS NEU1 4758 broad.mit.edu 37 6 31828353 31828353 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:31828353C>A uc003nxq.3 - 4 817 c.661G>T c.(661-663)GGG>TGG p.G221W NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.G52W|NEU1_uc003nxs.3_Missense_Mutation_p.G221W NM_000434 NP_000425 Q99519 NEUR1_HUMAN neuraminidase precursor 221 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding ovary(1) 1 Oseltamivir(DB00198)|Zanamivir(DB00558) TCCAGCGTCCCATGGCCACAC 0.632 38 117 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33408702 33408702 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:33408702C>T uc011dri.1 + 11 2068 c.1873C>T c.(1873-1875)CTC>TTC p.L625F SYNGAP1_uc010juy.2_Missense_Mutation_p.L610F|SYNGAP1_uc010juz.2_Missense_Mutation_p.L337F NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 625 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 AACCCTCACCCTCATTGCCAA 0.438 6 61 --- --- --- --- PASS MAPK13 5603 broad.mit.edu 37 6 36100432 36100432 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:36100432C>T uc003ols.2 + 3 382 c.284C>T c.(283-285)TCC>TTC p.S95F MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 95 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 ACCCCAGCCTCCTCCCTGCGC 0.607 21 214 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43220491 43220491 + Silent SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:43220491G>T uc003ouq.1 + 3 402 c.123G>T c.(121-123)GGG>GGT p.G41G NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 41 ATP (By similarity).|Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AAAAGATCGGGGGCGGGGGCT 0.582 30 56 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87969104 87969104 + Silent SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:87969104A>G uc003plm.3 + 8 5798 c.5757A>G c.(5755-5757)CTA>CTG p.L1919L NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1919 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGGATGCACTATTTAAGCACT 0.308 18 28 --- --- --- --- PASS FHL5 9457 broad.mit.edu 37 6 97053783 97053783 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:97053783C>G uc003pos.1 + 5 745 c.340C>G c.(340-342)CGC>GGC p.R114G FHL5_uc003pot.1_Missense_Mutation_p.R114G NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 114 LIM zinc-binding 2. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TACAGGTTCCCGCAAAATGGA 0.353 27 72 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131276358 131276358 + Nonsense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:131276358G>A uc003qch.2 - 3 774 c.592C>T c.(592-594)CAG>TAG p.Q198* EPB41L2_uc003qcg.1_Nonsense_Mutation_p.Q198*|EPB41L2_uc011eby.1_Nonsense_Mutation_p.Q198*|EPB41L2_uc003qci.2_Nonsense_Mutation_p.Q198*|EPB41L2_uc010kfk.2_Nonsense_Mutation_p.Q198*|EPB41L2_uc010kfl.1_Nonsense_Mutation_p.Q198* NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 198 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCATTGGTCTGCACTTCCTTG 0.438 45 323 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 131995401 131995401 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:131995401G>T uc003qcu.3 + 9 1089 c.742G>T c.(742-744)GCC>TCC p.A248S ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.A214S|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A248S NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 248 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AAATAATCCAGCCTGGTGGCA 0.423 16 77 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138531058 138531058 + Silent SNP G A A rs138636575 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:138531058G>A uc003qhu.2 + 4 231 c.231G>A c.(229-231)TCG>TCA p.S77S NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 77 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGCTTCTGTCGGAAGAGAGGT 0.458 52 139 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146244844 146244844 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:146244844C>T uc003qlf.2 - 18 3879 c.3480G>A c.(3478-3480)CAG>CAA p.Q1160Q SHPRH_uc003qld.2_Silent_p.Q1169Q|SHPRH_uc003qle.2_Silent_p.Q1169Q|SHPRH_uc003qlg.1_Silent_p.Q716Q|SHPRH_uc003qlh.2_Silent_p.Q85Q|SHPRH_uc003qli.1_Silent_p.Q85Q NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1160 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTCGCACTCGCTGAACTAGCT 0.363 73 99 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157522135 157522135 + Silent SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:157522135T>C uc003qqn.2 + 18 4505 c.4353T>C c.(4351-4353)AAT>AAC p.N1451N ARID1B_uc003qqo.2_Silent_p.N1411N|ARID1B_uc003qqp.2_Silent_p.N1398N NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1456 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCACGCAATGATATGCCTT 0.617 23 37 --- --- --- --- PASS SMOC2 64094 broad.mit.edu 37 6 169053815 169053815 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr6:169053815G>A uc003qws.1 + 11 1212 c.1192G>A c.(1192-1194)GTG>ATG p.V398M SMOC2_uc003qwr.1_Missense_Mutation_p.V409M|SMOC2_uc011egu.1_Missense_Mutation_p.V75M NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 398 2 (Potential).|EF-hand 2. signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) ATACTGTGACGTGAATAATGA 0.458 18 76 --- --- --- --- PASS RBAK 57786 broad.mit.edu 37 7 5105028 5105028 + Silent SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:5105028A>G uc010kss.1 + 6 2265 c.1941A>G c.(1939-1941)GGA>GGG p.G647G LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.G647G NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 647 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GCCATTCAGGAGAGAAACCCT 0.398 14 285 --- --- --- --- PASS PLEKHA8 84725 broad.mit.edu 37 7 30092432 30092432 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:30092432A>G uc003tam.1 + 7 837 c.746A>G c.(745-747)GAG>GGG p.E249G PLEKHA8_uc003tao.2_Missense_Mutation_p.E133G|PLEKHA8_uc003tap.1_Missense_Mutation_p.E249G|PLEKHA8_uc003tan.2_Missense_Mutation_p.E249G NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 249 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 AAATCTGCAGAGATAGACTGC 0.294 29 58 --- --- --- --- PASS VPS41 27072 broad.mit.edu 37 7 38768321 38768321 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:38768321C>T uc003tgy.2 - 26 2356 c.2330G>A c.(2329-2331)CGA>CAA p.R777Q VPS41_uc003tgz.2_Missense_Mutation_p.R752Q|VPS41_uc010kxn.2_Missense_Mutation_p.R688Q|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 777 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 CATTTGAGTTCGGTGCATTTT 0.393 42 183 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43484216 43484216 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:43484216C>A uc003tid.1 + 11 2050 c.1445C>A c.(1444-1446)ACC>AAC p.T482N HECW1_uc011kbi.1_Missense_Mutation_p.T482N NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 482 Glu-rich. 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 CCAGCCAGCACCAAGGAGGAG 0.537 11 15 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43546832 43546832 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:43546832T>A uc003tid.1 + 22 4333 c.3728T>A c.(3727-3729)TTT>TAT p.F1243Y HECW1_uc011kbi.1_Missense_Mutation_p.F1209Y NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1243 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 GCCAAAGGATTTGGTCAGGGT 0.488 93 116 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45701693 45701693 + Silent SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:45701693G>T uc003tne.3 + 8 1503 c.1485G>T c.(1483-1485)CCG>CCT p.P495P ADCY1_uc003tnd.2_Silent_p.P270P NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 495 Interaction with calmodulin (By similarity).|Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATATAAAACCGGCCAAAAGGA 0.488 34 62 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48318575 48318575 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:48318575T>C uc003toq.2 + 18 7809 c.7784T>C c.(7783-7785)CTT>CCT p.L2595P ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2595 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GTGCCATTTCTTGACTTGGCC 0.308 95 137 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55241711 55241711 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:55241711C>G uc003tqk.2 + 18 2405 c.2159C>G c.(2158-2160)TCC>TGC p.S720C EGFR_uc010kzg.1_Missense_Mutation_p.S675C|EGFR_uc011kco.1_Missense_Mutation_p.S667C NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 720 Cytoplasmic (Potential).|Protein kinase.|ATP. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S720F(5)|p.S720P(2)|p.S720S(1)|p.S720T(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGCTGGGCTCCGGTGCGTTC 0.572 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 176 --- --- --- --- PASS CRCP 27297 broad.mit.edu 37 7 65617210 65617210 + Nonsense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:65617210G>T uc003tus.2 + 6 458 c.313G>T c.(313-315)GAA>TAA p.E105* CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Nonsense_Mutation_p.E98*|CRCP_uc003tut.2_Nonsense_Mutation_p.E72*|CRCP_uc003tuu.2_Nonsense_Mutation_p.E28* NM_014478 NP_055293 O75575 RPC9_HUMAN calcitonin gene-related peptide-receptor 105 acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter DNA polymerase III complex|nucleus|plasma membrane calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding 0 GGAAGAGAGTGAAGAGCGGCT 0.527 20 81 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 87011274 87011274 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:87011274G>C uc003uit.2 + 11 1272 c.1027G>C c.(1027-1029)GAT>CAT p.D343H CROT_uc003uiu.2_Missense_Mutation_p.D371H NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 343 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TTATTATGTGGATGAGAAAAT 0.274 15 127 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87792411 87792411 + Silent SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:87792411A>G uc003ujn.2 + 23 2071 c.1992A>G c.(1990-1992)TTA>TTG p.L664L ADAM22_uc003ujk.1_Silent_p.L664L|ADAM22_uc003ujl.1_Silent_p.L664L|ADAM22_uc003ujm.2_Silent_p.L664L|ADAM22_uc003ujo.2_Silent_p.L664L|ADAM22_uc003ujp.1_Silent_p.L716L NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 664 Cys-rich.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGATGTGCTTAGAACACAGGT 0.428 121 257 --- --- --- --- PASS LRCH4 4034 broad.mit.edu 37 7 100179992 100179992 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:100179992C>G uc003uvj.2 - 2 364 c.311G>C c.(310-312)AGA>ACA p.R104T LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 104 LRR 3. nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTTCAGGCATCTCAGGCAATT 0.637 17 114 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107621203 107621203 + Nonsense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:107621203C>A uc003vew.2 - 8 1065 c.730G>T c.(730-732)GGA>TGA p.G244* LAMB1_uc003vev.2_Nonsense_Mutation_p.G268*|LAMB1_uc003vex.2_Nonsense_Mutation_p.G244*|LAMB1_uc010ljn.1_Nonsense_Mutation_p.G330* NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 244 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGTTATCTCCCAAAGTATGC 0.363 70 123 --- --- --- --- PASS LUZP6 767558 broad.mit.edu 37 7 135661836 135661836 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:135661836C>G uc003vte.3 - 1 369 c.13G>C c.(13-15)GAG>CAG p.E5Q LUZP6_uc010lmv.2_RNA NM_145808 NP_665807 Q538Z0 LUZP6_HUMAN myotrophin Error:Variant_position_missing_in_Q538Z0_after_alignment 0 CACATGAACTCCTTGTCGCAC 0.617 55 146 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657910 143657910 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:143657910C>A uc003wds.1 + 1 891 c.847C>A c.(847-849)CCA>ACA p.P283T NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) CATTTTAACACCAATGCTGAA 0.463 84 125 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149510823 149510823 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:149510823C>A uc010lpk.2 + 72 10108 c.10108C>A c.(10108-10110)CTG>ATG p.L3370M NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3370 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCCTGGACCTGCTGACCGG 0.697 16 36 --- --- --- --- PASS CDK5 1020 broad.mit.edu 37 7 150754047 150754047 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:150754047C>T uc003wir.1 - 3 203 c.142G>A c.(142-144)GCC>ACC p.A48T CDK5_uc003wis.1_Missense_Mutation_p.A48T|SLC4A2_uc003wit.3_5'Flank NM_004935 NP_004926 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 isoform 1 48 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity lung(1)|central_nervous_system(1) 2 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) TCCCGGAGGGCGGAACTCGGC 0.662 26 40 --- --- --- --- PASS CYP7B1 9420 broad.mit.edu 37 8 65527680 65527680 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:65527680G>A uc003xvj.2 - 4 1164 c.960C>T c.(958-960)GAC>GAT p.D320D NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 320 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GGTCAATTTCGTCACGCACTG 0.488 19 103 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77617343 77617343 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:77617343A>T uc003yav.2 + 2 1407 c.1020A>T c.(1018-1020)AAA>AAT p.K340N ZFHX4_uc003yat.1_Missense_Mutation_p.K340N|ZFHX4_uc003yau.1_Missense_Mutation_p.K340N|ZFHX4_uc003yaw.1_Missense_Mutation_p.K340N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 340 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) AACCAAAAAAATCCACTTCTG 0.433 HNSCC(33;0.089) 100 132 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86037118 86037118 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:86037118C>T uc003ycw.2 + 8 1370 c.1216C>T c.(1216-1218)CCA>TCA p.P406S LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.P107S|LRRCC1_uc003ycx.2_Missense_Mutation_p.P313S|LRRCC1_uc003ycy.2_Missense_Mutation_p.P386S NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 406 cell division|mitosis centriole|nucleus 0 ATCAGAAAAGCCAAAGACTGA 0.299 54 159 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87683247 87683247 + Missense_Mutation SNP G A A rs146488853 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:87683247G>A uc003ydx.2 - 4 464 c.418C>T c.(418-420)CGT>TGT p.R140C CNGB3_uc010maj.2_Missense_Mutation_p.R2C NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 140 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 GTTCTTTGACGCATTCTTTTC 0.473 214 540 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361153 105361153 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:105361153A>T uc003ylx.1 + 2 422 c.373A>T c.(373-375)ATG>TTG p.M125L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 125 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCTAGATGGTATGACTTGCAA 0.418 77 157 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 132052079 132052079 + Silent SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:132052079T>C uc003ytd.3 - 1 757 c.501A>G c.(499-501)GAA>GAG p.E167E ADCY8_uc010mds.2_Silent_p.E167E NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 167 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGTAGAGGCGTTCCAAATCCC 0.527 HNSCC(32;0.087) 23 140 --- --- --- --- PASS DENND3 22898 broad.mit.edu 37 8 142154342 142154342 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr8:142154342C>G uc003yvy.2 + 5 757 c.479C>G c.(478-480)CCT>CGT p.P160R DENND3_uc010mep.2_Missense_Mutation_p.P173R NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 160 DENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCCGCCACCTGGACCGCTC 0.363 114 105 --- --- --- --- PASS SMARCA2 6595 broad.mit.edu 37 9 2081948 2081948 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:2081948G>A uc003zhc.2 + 15 2400 c.2301G>A c.(2299-2301)ATG>ATA p.M767I SMARCA2_uc003zhd.2_Missense_Mutation_p.M767I|SMARCA2_uc010mha.2_Missense_Mutation_p.M758I NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 767 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CTTATCTGATGGAGCACAAAA 0.428 199 120 --- --- --- --- PASS RFX3 5991 broad.mit.edu 37 9 3225139 3225139 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:3225139G>C uc003zhr.2 - 18 2465 c.2153C>G c.(2152-2154)CCA>CGA p.P718R RFX3_uc010mhd.2_Missense_Mutation_p.P718R NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 718 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CAGGAGGCTTGGTTGCACGCC 0.502 22 57 --- --- --- --- PASS MAMDC2 256691 broad.mit.edu 37 9 72741227 72741227 + Silent SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:72741227C>A uc004ahm.2 + 6 1413 c.796C>A c.(796-798)CGG>AGG p.R266R MAMDC2_uc004ahn.2_RNA NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 266 MAM 2. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 CCTTTACACTCGGGATGTGGC 0.547 7 21 --- --- --- --- PASS MAMDC2 256691 broad.mit.edu 37 9 72741230 72741230 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:72741230G>A uc004ahm.2 + 6 1416 c.799G>A c.(799-801)GAT>AAT p.D267N MAMDC2_uc004ahn.2_RNA NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 267 MAM 2. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 TTACACTCGGGATGTGGCTGG 0.552 10 22 --- --- --- --- PASS TLE1 7088 broad.mit.edu 37 9 84202721 84202721 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:84202721C>G uc004aly.2 - 17 2293 c.1852G>C c.(1852-1854)GGA>CGA p.G618R TLE1_uc004alz.2_Missense_Mutation_p.G628R|TLE1_uc011lsr.1_Missense_Mutation_p.G603R NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 618 WD 4. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 CAGCTGGCTCCGTCTGTGTGG 0.502 44 23 --- --- --- --- PASS FRMD3 257019 broad.mit.edu 37 9 85863243 85863243 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:85863243C>G uc004ams.1 - 14 1586 c.1384G>C c.(1384-1386)GAG>CAG p.E462Q FRMD3_uc004amr.1_Missense_Mutation_p.E448Q|FRMD3_uc004amq.1_Missense_Mutation_p.E119Q NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 462 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 ATGTCAATCTCATCGTCATCC 0.433 58 179 --- --- --- --- PASS ZNF883 169834 broad.mit.edu 37 9 115760453 115760453 + Silent SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:115760453G>T uc011lwy.1 - 5 1326 c.87C>A c.(85-87)ACC>ACA p.T29T NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 29 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTGATGCTGGGTCAGGGATG 0.383 124 59 --- --- --- --- PASS FAM102A 399665 broad.mit.edu 37 9 130710472 130710472 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:130710472G>A uc004bsx.1 - 6 573 c.494C>T c.(493-495)CCA>CTA p.P165L FAM102A_uc004bsw.1_Missense_Mutation_p.P23L|FAM102A_uc004bsy.1_5'UTR NM_001035254 NP_001030331 Q5T9C2 F102A_HUMAN early estrogen-induced gene 1 protein isoform a 165 Ser-rich. ovary(1) 1 ATCCTGGCCTGGGATGGAGAT 0.617 39 34 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135203765 135203765 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:135203765C>T uc004cbk.2 - 10 3403 c.3220G>A c.(3220-3222)GAG>AAG p.E1074K SETX_uc004cbj.2_Missense_Mutation_p.E693K|SETX_uc010mzt.2_Missense_Mutation_p.E693K NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1074 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCAGATTCCTCAAACTGAAAA 0.383 128 92 --- --- --- --- PASS KIAA0649 9858 broad.mit.edu 37 9 138378032 138378032 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr9:138378032C>T uc004cfr.1 + 4 2225 c.1676C>T c.(1675-1677)CCG>CTG p.P559L NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 559 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) GAGAGCTGCCCGCAGGCTGCC 0.617 105 95 --- --- --- --- PASS FAM107B 83641 broad.mit.edu 37 10 14816587 14816587 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr10:14816587C>G uc001ina.1 - 1 310 c.76G>C c.(76-78)GCT>CCT p.A26P FAM107B_uc010qbu.1_RNA NM_031453 NP_113641 Q9H098 F107B_HUMAN hypothetical protein LOC83641 Error:Variant_position_missing_in_Q9H098_after_alignment breast(4) 4 GCGAGCAGAGCTGAGCACGGA 0.517 24 64 --- --- --- --- PASS PTER 9317 broad.mit.edu 37 10 16526710 16526710 + Silent SNP G T T rs147446984 byFrequency TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr10:16526710G>T uc001iog.1 + 3 534 c.327G>T c.(325-327)ACG>ACT p.T109T PTER_uc001ioh.1_Silent_p.T109T|PTER_uc001ioi.1_Silent_p.T109T|PTER_uc009xjp.1_Silent_p.T109T NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 109 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 ACACACAGACGTTGAAGAGGC 0.488 48 31 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26855898 26855898 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr10:26855898G>C uc001iss.2 + 15 1803 c.1482G>C c.(1480-1482)AAG>AAC p.K494N NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 494 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 AGGATAAGAAGCCAGCCCTCG 0.478 18 14 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29770543 29770543 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr10:29770543C>G uc001iut.1 - 28 5823 c.5070G>C c.(5068-5070)GAG>GAC p.E1690D LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E604D|SVIL_uc001iuu.1_Missense_Mutation_p.E1264D|SVIL_uc009xlc.2_Missense_Mutation_p.E482D NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1690 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CGGGGTTCTTCTCATTCGATC 0.493 14 621 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43127419 43127419 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr10:43127419G>C uc001jaf.1 - 4 323 c.208C>G c.(208-210)CCA>GCA p.P70A ZNF33B_uc009xmg.1_Missense_Mutation_p.P70A|ZNF33B_uc001jae.1_RNA|ZNF33B_uc001jag.1_5'UTR NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 70 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGTCTCCATGGTTCTTCTCCT 0.443 15 515 --- --- --- --- PASS GDF10 2662 broad.mit.edu 37 10 48429014 48429014 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr10:48429014G>T uc001jfb.2 - 2 1328 c.872C>A c.(871-873)GCC>GAC p.A291D GDF10_uc009xnp.2_Missense_Mutation_p.A290D|GDF10_uc009xnq.1_Missense_Mutation_p.A291D NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 291 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GGCCTGCGCGGCTCGGCGCAC 0.721 7 3 --- --- --- --- PASS NLRP6 171389 broad.mit.edu 37 11 281741 281741 + Silent SNP A C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:281741A>C uc010qvs.1 + 4 2007 c.2007A>C c.(2005-2007)GGA>GGC p.G669G NLRP6_uc010qvt.1_Silent_p.G669G NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 669 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GCCCTGCTGGACAGGCACTGC 0.652 28 79 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1093584 1093584 + Silent SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:1093584A>T uc001lsx.1 + 31 12516 c.12489A>T c.(12487-12489)CCA>CCT p.P4163P NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4163 P -> A (in Ref. 4). inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) cGGTGACCGCAACCCCAACAC 0.348 15 28 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5462167 5462167 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:5462167T>C uc010qze.1 - 1 578 c.578A>G c.(577-579)GAC>GGC p.D193G HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACATGGATGTCTCCACATGC 0.443 16 48 --- --- --- --- PASS OR51I2 390064 broad.mit.edu 37 11 5474866 5474866 + Silent SNP C A A rs145725236 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:5474866C>A uc010qzf.1 + 1 148 c.148C>A c.(148-150)CGA>AGA p.R50R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGGCTGTGCGAGTGGAGCC 0.577 25 62 --- --- --- --- PASS EIF4G2 1982 broad.mit.edu 37 11 10825569 10825569 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:10825569G>A uc001mjc.2 - 8 996 c.579C>T c.(577-579)CTC>CTT p.L193L EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Silent_p.L193L|EIF4G2_uc001mjf.1_5'UTR|SNORD97_uc009yge.2_5'Flank NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 193 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CCTCCTCGGGGAGGAGGGGAT 0.388 35 104 --- --- --- --- PASS DGKZ 8525 broad.mit.edu 37 11 46397475 46397475 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:46397475A>G uc001ncn.1 + 22 2674 c.2549A>G c.(2548-2550)TAC>TGC p.Y850C DGKZ_uc001nch.1_Missense_Mutation_p.Y678C|DGKZ_uc010rgq.1_Missense_Mutation_p.Y605C|DGKZ_uc001ncj.1_Missense_Mutation_p.Y628C|DGKZ_uc010rgr.1_Missense_Mutation_p.Y627C|DGKZ_uc001nck.1_Missense_Mutation_p.Y440C|DGKZ_uc001ncl.2_Missense_Mutation_p.Y662C|DGKZ_uc001ncm.2_Missense_Mutation_p.Y661C|DGKZ_uc009yky.1_Missense_Mutation_p.Y662C|DGKZ_uc010rgs.1_Missense_Mutation_p.Y639C NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 850 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) GCCCTGCACTACGACAAGGAG 0.701 11 9 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681828 55681828 + Silent SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:55681828A>T uc010rir.1 - 1 231 c.231T>A c.(229-231)ACT>ACA p.T77T NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCTTGGGCCCAGTTGCAGTAG 0.413 44 86 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56057972 56057972 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:56057972C>A uc010rje.1 - 1 567 c.567G>T c.(565-567)ATG>ATT p.M189I NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) CGTATGTGTCCATGCAGGACA 0.428 60 131 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56309961 56309961 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:56309961T>C uc010rjl.1 - 1 773 c.773A>G c.(772-774)TAT>TGT p.Y258C NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGTCTTATATACATGCAAAA 0.433 52 88 --- --- --- --- PASS OR4D11 219986 broad.mit.edu 37 11 59271632 59271632 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:59271632T>A uc001noa.1 + 1 584 c.584T>A c.(583-585)CTT>CAT p.L195H NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACTTTTGCTCTTGAGTTCTTG 0.488 79 212 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66468296 66468296 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:66468296C>T uc001ojd.2 - 16 3346 c.3274G>A c.(3274-3276)GAA>AAA p.E1092K NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1092 Spectrin 8. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GCCGGCCCTTCTTCAGAGGCC 0.687 11 28 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82880157 82880157 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:82880157C>T uc001ozx.3 + 8 3125 c.2780C>T c.(2779-2781)GCG>GTG p.A927V PCF11_uc010rsu.1_Missense_Mutation_p.A1058V NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 927 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 TCAGGGGCTGCGATTAGGTTT 0.542 24 43 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105789538 105789538 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:105789538A>G uc001pix.2 + 11 1816 c.1370A>G c.(1369-1371)CAT>CGT p.H457R GRIA4_uc001piw.2_Missense_Mutation_p.H457R NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 457 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATTGCAAAACATATTGGTATC 0.358 26 63 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108398896 108398896 + Silent SNP T G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:108398896T>G uc001pkk.2 - 4 570 c.459A>C c.(457-459)GCA>GCC p.A153A EXPH5_uc010rvy.1_Intron|EXPH5_uc010rvz.1_5'UTR|EXPH5_uc010rwa.1_Silent_p.A77A NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 153 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TAGGAGGTCCTGCATGGCCAT 0.418 46 82 --- --- --- --- PASS OR10S1 219873 broad.mit.edu 37 11 123847651 123847651 + Silent SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:123847651G>T uc001pzm.1 - 1 748 c.748C>A c.(748-750)CGG>AGG p.R250R NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 250 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 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;0.0399) GAGAAGGCCCGCTGCCGGCCC 0.617 45 69 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900704 123900704 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr11:123900704C>G uc001pzp.1 + 1 375 c.375C>G c.(373-375)ATC>ATG p.I125M NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 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) ACCTGGCCATCAGTTACCCGC 0.567 67 131 --- --- --- --- PASS C1R 715 broad.mit.edu 37 12 7241522 7241522 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:7241522C>T uc010sfy.1 - 6 888 c.829G>A c.(829-831)GAC>AAC p.D277N C1R_uc010sfz.1_Missense_Mutation_p.D291N|C1R_uc010sga.1_Missense_Mutation_p.D243N NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 277 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTGCTGGTGTCGAGGTCGGGG 0.562 15 22 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26709222 26709222 + Silent SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:26709222T>C uc001rhg.2 - 36 5325 c.4908A>G c.(4906-4908)GAA>GAG p.E1636E NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1636 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GGAACAGCAGTTCTGGACTGT 0.473 90 159 --- --- --- --- PASS SYT10 341359 broad.mit.edu 37 12 33579079 33579079 + Nonsense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:33579079G>T uc001rll.1 - 2 800 c.503C>A c.(502-504)TCA>TAA p.S168* SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 168 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTACCGGGTTGATGACGTAGG 0.279 149 333 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43925955 43925955 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:43925955G>C uc010skx.1 - 3 497 c.497C>G c.(496-498)CCT>CGT p.P166R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 166 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTCATTATAGGTTCTAAGAA 0.348 21 151 --- --- --- --- PASS TROAP 10024 broad.mit.edu 37 12 49719645 49719645 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:49719645G>T uc001rtx.3 + 5 778 c.611G>T c.(610-612)TGC>TTC p.C204F TROAP_uc009zlh.2_Missense_Mutation_p.C204F|TROAP_uc001rty.2_5'Flank NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 204 cell adhesion cytoplasm ovary(1) 1 CGGACATTGTGCCCCCAGAGG 0.632 24 60 --- --- --- --- PASS FAIM2 23017 broad.mit.edu 37 12 50264382 50264382 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:50264382G>T uc001rvj.1 - 12 1001 c.856C>A c.(856-858)CCT>ACT p.P286T FAIM2_uc001rvi.1_Missense_Mutation_p.P240T|FAIM2_uc001rvk.1_RNA NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 286 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|ovary(1)|skin(1) 3 TACTCCTCAGGGCTCAGCGAG 0.517 54 84 --- --- --- --- PASS KRT6A 3853 broad.mit.edu 37 12 52884946 52884946 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:52884946C>T uc001sam.2 - 3 975 c.766G>A c.(766-768)GAA>AAA p.E256K NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 256 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGTTGATTTCATCCTCATAT 0.453 88 170 --- --- --- --- PASS HOXC12 3228 broad.mit.edu 37 12 54350155 54350155 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:54350155C>T uc010soq.1 + 2 654 c.654C>T c.(652-654)CGC>CGT p.R218R NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 218 Homeobox. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 GGAAGAAGCGCAAGCCCTATT 0.592 88 149 --- --- --- --- PASS HOXC11 3227 broad.mit.edu 37 12 54367289 54367289 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:54367289C>G uc001sem.2 + 1 380 c.264C>G c.(262-264)AGC>AGG p.S88R NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 88 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ATCGGAACAGCTACTCCTCCT 0.627 T NUP98 AML 82 145 --- --- --- --- PASS DNAJC14 85406 broad.mit.edu 37 12 56221155 56221155 + Nonsense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:56221155G>A uc001shx.1 - 2 1492 c.1288C>T c.(1288-1290)CGA>TGA p.R430* DNAJC14_uc001shu.1_Nonsense_Mutation_p.R430*|DNAJC14_uc009zob.1_Nonsense_Mutation_p.R430*|DNAJC14_uc001shy.1_Nonsense_Mutation_p.R430* NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 430 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 GTCAAGAGTCGAGCCACTTCC 0.542 82 153 --- --- --- --- PASS GAS2L3 283431 broad.mit.edu 37 12 101012343 101012343 + Missense_Mutation SNP G A A rs147048300 by1000genomes TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:101012343G>A uc001thu.2 + 8 852 c.626G>A c.(625-627)CGG>CAG p.R209Q GAS2L3_uc009zty.2_Missense_Mutation_p.R209Q|GAS2L3_uc001thv.2_Missense_Mutation_p.R105Q NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 209 GAR. cell cycle arrest skin(1) 1 TCATGCTGTCGGCATGAAGAG 0.398 8 232 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119583288 119583288 + Missense_Mutation SNP T G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:119583288T>G uc001txa.1 + 9 1166 c.874T>G c.(874-876)TCC>GCC p.S292A NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 292 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 AAATGACACGTCCTCGCCACC 0.637 6 17 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132508341 132508341 + Silent SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:132508341A>T uc001ujn.2 + 23 4745 c.4710A>T c.(4708-4710)ATA>ATT p.I1570I EP400_uc001ujl.2_Silent_p.I1569I|EP400_uc001ujm.2_Silent_p.I1489I NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1606 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TAGTGAAAATAGCTCAGCTGG 0.493 53 82 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133350809 133350809 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr12:133350809A>T uc001ukz.1 - 23 4800 c.4241T>A c.(4240-4242)CTG>CAG p.L1414Q NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1414 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CGGTGGTCTCAGCAGCTCCTC 0.622 20 44 --- --- --- --- PASS HTR2A 3356 broad.mit.edu 37 13 47409668 47409668 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr13:47409668A>T uc001vbq.2 - 3 854 c.720T>A c.(718-720)TTT>TTA p.F240L HTR2A_uc001vbr.2_Missense_Mutation_p.F140L|HTR2A_uc010acr.2_Missense_Mutation_p.F240L NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 240 Helical; Name=5; (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AAAATGACACAAAAGAGCCGA 0.438 34 33 --- --- --- --- PASS ATP7B 540 broad.mit.edu 37 13 52520501 52520501 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr13:52520501C>T uc001vfw.2 - 13 3136 c.2979G>A c.(2977-2979)ACG>ACA p.T993T ATP7B_uc010adv.2_Silent_p.T563T|ATP7B_uc001vfx.2_Silent_p.T786T|ATP7B_uc001vfy.2_Silent_p.T882T|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Silent_p.T945T|ATP7B_uc010tgv.1_Silent_p.T915T|ATP7B_uc001vfv.2_Silent_p.T265T|ATP7B_uc010tgs.1_Silent_p.T265T NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 993 Helical; (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCATGACAGCCGTGGGCGTGG 0.642 Wilson_disease 16 5 --- --- --- --- PASS OR11H12 440153 broad.mit.edu 37 14 19377759 19377759 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:19377759G>T uc010tkp.1 + 1 166 c.166G>T c.(166-168)GGG>TGG p.G56W NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 56 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTATAACAGGGAATGGAGC 0.398 367 110 --- --- --- --- PASS SALL2 6297 broad.mit.edu 37 14 21991560 21991560 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:21991560C>G uc001wbe.2 - 2 2584 c.2302G>C c.(2302-2304)GAG>CAG p.E768Q SALL2_uc010tly.1_Missense_Mutation_p.E766Q|SALL2_uc010tlz.1_Missense_Mutation_p.E631Q|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.E633Q|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 768 Poly-Glu. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) tcatcctcctcttcctcctcc 0.458 40 107 --- --- --- --- PASS JUB 84962 broad.mit.edu 37 14 23444075 23444075 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:23444075G>A uc001whz.2 - 6 1771 c.1395C>T c.(1393-1395)GCC>GCT p.A465A JUB_uc001why.2_Silent_p.A48A NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 465 LIM zinc-binding 3. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) GTTGGCCACAGGCTGCACACT 0.577 177 47 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52534597 52534597 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:52534597G>A uc001wzo.2 - 2 747 c.513C>T c.(511-513)CGC>CGT p.R171R NID2_uc010tqs.1_Silent_p.R171R|NID2_uc010tqt.1_Silent_p.R171R|NID2_uc001wzp.2_Silent_p.R171R NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 171 NIDO. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GCAGCGCCCCGCGCTTGACCT 0.632 24 432 --- --- --- --- PASS ADAM21 8747 broad.mit.edu 37 14 70925402 70925402 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:70925402A>T uc001xmd.2 + 1 1186 c.1186A>T c.(1186-1188)AAT>TAT p.N396Y NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 396 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATGTCTGCATAATCCTCCAAG 0.438 185 79 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72200451 72200451 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:72200451C>T uc001xms.2 + 19 5341 c.4993C>T c.(4993-4995)CCT>TCT p.P1665S SIPA1L1_uc001xmt.2_Missense_Mutation_p.P1644S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.P1644S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.P1665S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.P1119S|SIPA1L1_uc001xmw.2_Missense_Mutation_p.P430S NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1665 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TATGCCCGACCCTGGCCTGAT 0.587 36 52 --- --- --- --- PASS ABCD4 5826 broad.mit.edu 37 14 74753465 74753465 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:74753465C>T uc001xpr.2 - 18 1843 c.1691G>A c.(1690-1692)CGC>CAC p.R564H ABCD4_uc001xps.2_Missense_Mutation_p.R405H|ABCD4_uc001xpt.2_Missense_Mutation_p.R405H|ABCD4_uc010tur.1_Missense_Mutation_p.R460H NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 564 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) CTGGCCGATGCGATAGAGCTC 0.582 11 102 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088921 86088921 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:86088921A>G uc001xvr.2 + 2 1830 c.1063A>G c.(1063-1065)ATG>GTG p.M355V FLRT2_uc010atd.2_Missense_Mutation_p.M355V NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 355 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGAATTAAATATGAATCTTTT 0.547 269 94 --- --- --- --- PASS HSP90AA1 3320 broad.mit.edu 37 14 102605647 102605647 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr14:102605647T>C uc001ykv.3 - 1 440 c.95A>G c.(94-96)GAC>GGC p.D32G WDR20_uc001yky.1_5'Flank|WDR20_uc001yla.2_5'Flank|WDR20_uc001ykz.2_5'Flank|WDR20_uc001ylb.2_5'Flank|WDR20_uc010txu.1_5'Flank|WDR20_uc001ylc.2_5'Flank|WDR20_uc001yld.2_5'Flank|WDR20_uc001yle.2_5'Flank|WDR20_uc001ylf.2_5'Flank NM_001017963 NP_001017963 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 1 Error:Variant_position_missing_in_P07900_after_alignment axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) ATCCAGACGGTCGCGCGGGTA 0.642 21 34 --- --- --- --- PASS CYFIP1 23191 broad.mit.edu 37 15 22962496 22962496 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr15:22962496A>T uc001yus.2 + 20 2320 c.2216A>T c.(2215-2217)CAC>CTC p.H739L CYFIP1_uc001yut.2_Missense_Mutation_p.H739L|CYFIP1_uc010aya.1_Missense_Mutation_p.H767L|CYFIP1_uc001yuu.2_Missense_Mutation_p.H308L NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 739 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GCCACGATCCACCTCCCGCCG 0.507 21 23 --- --- --- --- PASS SHF 90525 broad.mit.edu 37 15 45491044 45491044 + Nonsense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr15:45491044T>A uc001zuy.2 - 2 724 c.229A>T c.(229-231)AAG>TAG p.K77* NM_138356 NP_612365 Q7M4L6 SHF_HUMAN Src homology 2 domain containing F 77 ovary(1) 1 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) CTTTTCTTCTTCTGTTTTGGC 0.572 OREG0023105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 123 84 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77471208 77471208 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr15:77471208C>G uc002bcm.2 - 3 3369 c.3061G>C c.(3061-3063)GAG>CAG p.E1021Q SGK269_uc002bcn.2_Missense_Mutation_p.E1021Q NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1021 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) AATGCATTCTCTGCTCTACCC 0.468 36 110 --- --- --- --- PASS EFTUD1 79631 broad.mit.edu 37 15 82523274 82523274 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr15:82523274C>G uc002bgt.1 - 8 939 c.770G>C c.(769-771)GGC>GCC p.G257A EFTUD1_uc002bgu.1_Missense_Mutation_p.G206A NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 257 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 CTTTTTGATGCCAATTTTTTG 0.289 17 140 --- --- --- --- PASS PARN 5073 broad.mit.edu 37 16 14720998 14720998 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr16:14720998T>C uc010uzd.1 - 5 434 c.292A>G c.(292-294)AAT>GAT p.N98D PARN_uc010uzc.1_Missense_Mutation_p.N37D|PARN_uc010uze.1_Intron|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_Intron NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 98 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 GAGGATCTATTGAAGGGTTTC 0.368 16 11 --- --- --- --- PASS TRADD 8717 broad.mit.edu 37 16 67189189 67189189 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr16:67189189C>T uc002eri.1 - 4 518 c.438G>A c.(436-438)CGG>CGA p.R146R TRADD_uc002erh.1_Silent_p.R86R NM_003789 NP_003780 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 146 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity lung(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CATCCCGGAGCCGGTCGGGCT 0.697 5 20 --- --- --- --- PASS CENPT 80152 broad.mit.edu 37 16 67866358 67866358 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr16:67866358C>A uc002eun.3 - 5 750 c.201G>T c.(199-201)AGG>AGT p.R67S CENPT_uc002eum.3_Missense_Mutation_p.R67S|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_5'UTR NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 67 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GGGTACTTACCCTGGCTCCAT 0.607 31 63 --- --- --- --- PASS COX10 1352 broad.mit.edu 37 17 13980210 13980210 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:13980210G>A uc002gof.3 + 3 540 c.336G>A c.(334-336)AAG>AAA p.K112K COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 112 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TGTCCAGAAAGCCAAATGAAA 0.413 53 42 --- --- --- --- PASS FAM27L 284123 broad.mit.edu 37 17 21825572 21825572 + RNA SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:21825572C>T uc002gyz.2 + 1 c.203C>T NR_028336 Homo sapiens family with sequence similarity 27-like, mRNA (cDNA clone MGC:35151 IMAGE:5169482), complete cds. 0 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) ggagggtgttcgggtgagtct 0.000 29 104 --- --- --- --- PASS MYO18A 399687 broad.mit.edu 37 17 27437117 27437117 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:27437117G>A uc002hdt.1 - 19 3248 c.3090C>T c.(3088-3090)GAC>GAT p.D1030D MYO18A_uc010wbc.1_Silent_p.D572D|MYO18A_uc002hds.2_Silent_p.D572D|MYO18A_uc010csa.1_Silent_p.D1030D|MYO18A_uc002hdu.1_Silent_p.D1030D|MYO18A_uc010wbd.1_Silent_p.D699D NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1030 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CGATGAGGGCGTCCTGCCGAG 0.622 10 30 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29701119 29701119 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:29701119G>C uc002hgg.2 + 58 8799 c.8466G>C c.(8464-8466)CAG>CAC p.Q2822H NF1_uc002hgh.2_Missense_Mutation_p.Q2801H|NF1_uc010cso.2_Missense_Mutation_p.Q1028H|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2822 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCCAAGTGCAGAAGCAAAGAA 0.463 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 75 --- --- --- --- PASS KRT37 8688 broad.mit.edu 37 17 39580033 39580033 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:39580033C>A uc002hwp.1 - 2 603 c.556G>T c.(556-558)GCT>TCT p.A186S uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 186 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) AAGTCATCAGCAGCCAGCTTC 0.313 13 68 --- --- --- --- PASS SKAP1 8631 broad.mit.edu 37 17 46257527 46257527 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:46257527C>T uc002ini.1 - 9 827 c.715G>A c.(715-717)GAC>AAC p.D239N SKAP1_uc002inj.1_Missense_Mutation_p.D239N|SKAP1_uc010dbd.1_Missense_Mutation_p.D145N|SKAP1_uc010dbe.1_Missense_Mutation_p.D239N NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 239 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 CTTGGGGAGTCAAAACCATCA 0.358 34 86 --- --- --- --- PASS APPBP2 10513 broad.mit.edu 37 17 58543698 58543698 + Missense_Mutation SNP T C C rs140223877 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:58543698T>C uc002iys.1 - 5 914 c.626A>G c.(625-627)TAT>TGT p.Y209C APPBP2_uc010ddl.1_Missense_Mutation_p.Y138C NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 209 TPR 3. intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) CAGTTCTCCATAGAGTGCAGC 0.348 102 124 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43531083 43531083 + Silent SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr18:43531083G>C uc002lbm.2 - 4 1474 c.1374C>G c.(1372-1374)CTC>CTG p.L458L KIAA1632_uc002lbo.1_Silent_p.L458L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 458 autophagy 0 TCTGCAGCCAGAGAAGAATAT 0.348 20 71 --- --- --- --- PASS SMAD7 4092 broad.mit.edu 37 18 46474754 46474754 + Missense_Mutation SNP C A A rs34000389 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr18:46474754C>A uc002ldg.2 - 2 954 c.667G>T c.(667-669)GCA>TCA p.A223S SMAD7_uc010xde.1_Missense_Mutation_p.A8S NM_005904 NP_005895 O15105 SMAD7_HUMAN SMAD family member 7 223 adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding 0 Colorectal(1;0.0518) ATCTACTCACCAGTTGGTTTG 0.423 3 59 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9038137 9038137 + Splice_Site SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:9038137C>A uc002mkp.2 - 8 36344 c.36140_splice c.e8-1 p.T12047_splice NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 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 GTCACTGGAGCTGAGAAAAAA 0.453 3 7 --- --- --- --- PASS ZGLP1 100125288 broad.mit.edu 37 19 10419279 10419279 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:10419279C>T uc002mnw.3 - 1 955 c.79G>A c.(79-81)GCT>ACT p.A27T FDX1L_uc002mnx.1_Intron NM_001103167 NP_001096637 P0C6A0 ZGLP1_HUMAN GATA like protein-1 27 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CTGGGTTTAGCCGGCCAGGGG 0.597 3 44 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13356036 13356036 + Missense_Mutation SNP A C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:13356036A>C uc010dze.2 - 31 5149 c.4913T>G c.(4912-4914)GTT>GGT p.V1638G CACNA1A_uc010xnd.1_Missense_Mutation_p.V343G|CACNA1A_uc002mwx.3_Missense_Mutation_p.V343G|CACNA1A_uc010dzc.2_Missense_Mutation_p.V1163G|CACNA1A_uc002mwy.3_Missense_Mutation_p.V1637G|CACNA1A_uc010xne.1_Missense_Mutation_p.V1166G|CACNA1A_uc002mwv.3_Missense_Mutation_p.V154G NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1638 Helical; Name=S3 of repeat IV; (Potential).|IV. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCTGCCCAGAACAGTCACAAA 0.572 29 53 --- --- --- --- PASS AKAP8 10270 broad.mit.edu 37 19 15465755 15465755 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:15465755C>G uc002nav.2 - 14 2111 c.2050G>C c.(2050-2052)GAG>CAG p.E684Q AKAP8_uc010dzy.2_Missense_Mutation_p.E233Q NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 684 signal transduction nuclear matrix ovary(1)|breast(1) 2 TCTTTAGACTCTGCATCAGTT 0.532 5 161 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19344641 19344641 + Silent SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:19344641G>C uc002nlz.2 + 9 3162 c.3063G>C c.(3061-3063)GGG>GGC p.G1021G NCAN_uc010ecc.1_Silent_p.G585G NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1021 EGF-like 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TTCATGGAGGGACATGTAATG 0.488 37 193 --- --- --- --- PASS CYP2A13 1553 broad.mit.edu 37 19 41594403 41594403 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:41594403G>A uc002opt.2 + 1 36 c.27G>A c.(25-27)GTG>GTA p.V9V NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 9 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) TGCTTCTGGTGACCTTGCTGG 0.582 13 63 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50796886 50796886 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:50796886A>T uc002prr.1 + 37 5335 c.5288A>T c.(5287-5289)GAG>GTG p.E1763V MYH14_uc010enu.1_Missense_Mutation_p.E1804V|MYH14_uc002prq.1_Missense_Mutation_p.E1771V|MYH14_uc010ycb.1_Missense_Mutation_p.E114V|MYH14_uc002prs.1_Missense_Mutation_p.E114V NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1763 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GAAGAGCTGGAGGAGGAGCAG 0.627 13 31 --- --- --- --- PASS ZNF600 162966 broad.mit.edu 37 19 53269323 53269323 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:53269323G>A uc002qab.3 - 3 1972 c.1686C>T c.(1684-1686)ACC>ACT p.T562T NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 562 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGTGACTGAAGGTCTTGCCAC 0.438 75 420 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56466391 56466391 + Missense_Mutation SNP A C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:56466391A>C uc002qmh.2 + 3 1038 c.967A>C c.(967-969)ACG>CCG p.T323P NLRP8_uc010etg.2_Missense_Mutation_p.T323P NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 323 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCTGAGCAAAACGATGCTTCC 0.517 102 153 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57641900 57641900 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr19:57641900G>C uc002qny.2 + 4 2213 c.1857G>C c.(1855-1857)CAG>CAC p.Q619H NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 619 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCAGCATCAGAGAGACCTGG 0.493 21 91 --- --- --- --- PASS TMC2 117532 broad.mit.edu 37 20 2577827 2577827 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:2577827C>T uc002wgf.1 + 10 1122 c.1107C>T c.(1105-1107)GGC>GGT p.G369G TMC2_uc002wgg.1_Silent_p.G353G|TMC2_uc010zpw.1_Silent_p.G201G|TMC2_uc010zpx.1_Silent_p.G200G NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 369 Cytoplasmic (Potential). integral to membrane ovary(3) 3 GAAGCACAGGCGAAGGGGAGA 0.527 29 63 --- --- --- --- PASS ADAM33 80332 broad.mit.edu 37 20 3660177 3660177 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:3660177C>A uc002wit.2 - 2 226 c.139G>T c.(139-141)GAT>TAT p.D47Y ADAM33_uc002wir.1_Missense_Mutation_p.D47Y|ADAM33_uc002wiu.2_Missense_Mutation_p.D47Y|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Missense_Mutation_p.D47Y|ADAM33_uc010gbb.1_Missense_Mutation_p.D47Y|ADAM33_uc002wix.1_Missense_Mutation_p.D47Y|ADAM33_uc010zqg.1_Missense_Mutation_p.D47Y|ADAM33_uc010zqh.1_Missense_Mutation_p.D47Y|ADAM33_uc002wiy.2_Missense_Mutation_p.D47Y NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 47 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GGTTGTCCATCCAGGACCCAG 0.642 6 25 --- --- --- --- PASS RBBP9 10741 broad.mit.edu 37 20 18470558 18470558 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:18470558G>A uc002wqy.2 - 5 487 c.411C>T c.(409-411)GAC>GAT p.D137D NM_006606 NP_006597 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 137 cytoplasm|nucleus hydrolase activity haematopoietic_and_lymphoid_tissue(1) 1 GGAACGGGTCGTCAGTAGAGC 0.483 92 80 --- --- --- --- PASS REM1 28954 broad.mit.edu 37 20 30071999 30071999 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:30071999C>T uc002wwa.2 + 5 947 c.663C>T c.(661-663)TTC>TTT p.F221F NCRNA00028_uc010ztn.1_5'Flank NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 221 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ACTGTAAATTCATCGAGACAT 0.657 5 43 --- --- --- --- PASS HCK 3055 broad.mit.edu 37 20 30689285 30689285 + Missense_Mutation SNP A G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:30689285A>G uc002wxh.2 + 13 1715 c.1544A>G c.(1543-1545)TAC>TGC p.Y515C HCK_uc010gdy.2_Missense_Mutation_p.Y494C|HCK_uc002wxi.2_Missense_Mutation_p.Y493C NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 515 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GATGACTTCTACACGGCCACA 0.607 14 40 --- --- --- --- PASS CHMP4B 128866 broad.mit.edu 37 20 32438759 32438759 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:32438759G>C uc002xaa.2 + 3 526 c.370G>C c.(370-372)GAC>CAC p.D124H NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 124 Potential. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 CATTTGAAGGGACATCGATAA 0.473 12 164 --- --- --- --- PASS CHMP4B 128866 broad.mit.edu 37 20 32438855 32438855 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:32438855G>C uc002xaa.2 + 3 622 c.466G>C c.(466-468)GGA>CGA p.G156R NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 156 Potential. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 TGTAGGGTTTGGAGAAGAGTT 0.448 11 197 --- --- --- --- PASS DDX27 55661 broad.mit.edu 37 20 47835940 47835940 + Silent SNP C T T rs150992243 by1000genomes TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:47835940C>T uc002xuh.2 + 1 109 c.48C>T c.(46-48)GCC>GCT p.A16A NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 16 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGTTAAGGGCCGGACCGCAGG 0.607 14 24 --- --- --- --- PASS KCNB1 3745 broad.mit.edu 37 20 48098748 48098748 + Silent SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:48098748G>T uc002xur.1 - 1 434 c.270C>A c.(268-270)GGC>GGA p.G90G KCNB1_uc002xus.1_Silent_p.G90G NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 90 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGGTGAAGGCGCCCGGGTGGC 0.607 8 60 --- --- --- --- PASS SPATA2 9825 broad.mit.edu 37 20 48523016 48523016 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:48523016T>A uc010gie.2 - 3 1053 c.703A>T c.(703-705)AGC>TGC p.S235C SPATA2_uc002xuw.2_Missense_Mutation_p.S235C|SPATA2_uc010zyn.1_Missense_Mutation_p.S98C NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 235 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GCCCGCTCGCTGGCCGACTTC 0.682 16 77 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027781 55027781 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:55027781C>T uc002xxp.2 + 6 1774 c.1549C>T c.(1549-1551)CGG>TGG p.R517W CASS4_uc002xxq.3_Missense_Mutation_p.R517W|CASS4_uc002xxr.2_Missense_Mutation_p.R517W|CASS4_uc010zze.1_Missense_Mutation_p.R463W|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 517 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GAACAGAATTCGGGACCAGAT 0.463 36 80 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027782 55027782 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:55027782G>T uc002xxp.2 + 6 1775 c.1550G>T c.(1549-1551)CGG>CTG p.R517L CASS4_uc002xxq.3_Missense_Mutation_p.R517L|CASS4_uc002xxr.2_Missense_Mutation_p.R517L|CASS4_uc010zze.1_Missense_Mutation_p.R463L|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 517 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 AACAGAATTCGGGACCAGATG 0.468 36 79 --- --- --- --- PASS NPEPL1 79716 broad.mit.edu 37 20 57289620 57289620 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:57289620G>A uc010zzs.1 + 11 1402 c.1307G>A c.(1306-1308)CGA>CAA p.R436Q NPEPL1_uc010zzr.1_Missense_Mutation_p.R388Q|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R408Q|NPEPL1_uc002xzp.2_3'UTR NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 436 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CCCTAGGACCGAGACAACAGC 0.647 3 6 --- --- --- --- PASS CHRNA4 1137 broad.mit.edu 37 20 61982049 61982049 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr20:61982049G>A uc002yes.2 - 5 892 c.714C>T c.(712-714)GTC>GTT p.V238V CHRNA4_uc002yet.1_Silent_p.V62V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.V167V|CHRNA4_uc002yev.1_Silent_p.V62V|CHRNA4_uc010gkf.1_Silent_p.V62V NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 238 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GCCGCCGGATGACGAAGGCAT 0.597 29 49 --- --- --- --- PASS GRIK1 2897 broad.mit.edu 37 21 31062214 31062214 + Silent SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr21:31062214G>C uc002yno.1 - 3 842 c.378C>G c.(376-378)CTC>CTG p.L126L GRIK1_uc002ynn.2_Silent_p.L126L|GRIK1_uc011acs.1_Silent_p.L126L|GRIK1_uc011act.1_Silent_p.L70L|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.L126L NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 126 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GTGGAACTTCGAGAGCATTGC 0.517 11 296 --- --- --- --- PASS SUSD2 56241 broad.mit.edu 37 22 24584086 24584086 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr22:24584086C>T uc002zzn.1 + 13 2368 c.2324C>T c.(2323-2325)ACC>ATC p.T775I NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 775 Sushi.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TCCTCACCCACCCCGAAGTGC 0.647 15 203 --- --- --- --- PASS CACNG2 10369 broad.mit.edu 37 22 36960438 36960438 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr22:36960438A>T uc003aps.1 - 4 1214 c.932T>A c.(931-933)CTC>CAC p.L311H NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 311 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 GTTGGAGTGGAGAGAGTCCTT 0.532 29 73 --- --- --- --- PASS IL17REL 400935 broad.mit.edu 37 22 50439241 50439241 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr22:50439241G>A uc003bje.1 - 5 393 c.161C>T c.(160-162)ACG>ATG p.T54M NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 54 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CTGACACTGCGTCTCCTGGGT 0.706 17 35 --- --- --- --- PASS CLCN4 1183 broad.mit.edu 37 X 10176330 10176330 + Silent SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:10176330C>A uc004csy.3 + 9 1519 c.1089C>A c.(1087-1089)ACC>ACA p.T363T CLCN4_uc011mid.1_Silent_p.T269T NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 363 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GCAAGACCACCAGGCTGGGGA 0.607 56 260 --- --- --- --- PASS ARHGAP6 395 broad.mit.edu 37 X 11682535 11682535 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:11682535G>A uc004cup.1 - 1 1287 c.414C>T c.(412-414)GAC>GAT p.D138D ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.D138D NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 138 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CAGAAGGCAGGTCCCAGGCCA 0.627 19 38 --- --- --- --- PASS TAB3 257397 broad.mit.edu 37 X 30873081 30873081 + Missense_Mutation SNP T C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:30873081T>C uc004dcj.2 - 6 1364 c.701A>G c.(700-702)CAG>CGG p.Q234R TAB3_uc004dck.2_Missense_Mutation_p.Q234R|TAB3_uc010ngl.2_Missense_Mutation_p.Q234R NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 234 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 CTGAGATGTCTGTCTAATATA 0.478 32 27 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34150182 34150182 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:34150182G>A uc004ddg.2 - 1 247 c.214C>T c.(214-216)CGC>TGC p.R72C NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 72 p.R72H(1) ovary(4)|central_nervous_system(1) 5 TCGTCACGGCGACAAACGAGA 0.537 40 141 --- --- --- --- PASS PHF16 9767 broad.mit.edu 37 X 46893118 46893118 + Missense_Mutation SNP A T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:46893118A>T uc004dgx.2 + 7 834 c.783A>T c.(781-783)AAA>AAT p.K261N PHF16_uc004dgy.2_Missense_Mutation_p.K261N NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 261 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 GTCCAAAGAAAGGTGGAGCCC 0.552 10 29 --- --- --- --- PASS PHF16 9767 broad.mit.edu 37 X 46917581 46917581 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:46917581C>A uc004dgx.2 + 11 1625 c.1574C>A c.(1573-1575)ACA>AAA p.T525K PHF16_uc004dgy.2_Missense_Mutation_p.T525K NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 525 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 CTTCCTTTGACAAATGCACTT 0.388 25 160 --- --- --- --- PASS ZNF41 7592 broad.mit.edu 37 X 47308234 47308234 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:47308234G>A uc004dhs.3 - 4 1128 c.1061C>T c.(1060-1062)CCC>CTC p.P354L ZNF41_uc004dhu.3_Missense_Mutation_p.P346L|ZNF41_uc004dht.3_Missense_Mutation_p.P226L|ZNF41_uc004dhv.3_Missense_Mutation_p.P322L|ZNF41_uc004dhw.3_Missense_Mutation_p.P314L|ZNF41_uc004dhy.3_Missense_Mutation_p.P312L|ZNF41_uc004dhx.3_Missense_Mutation_p.P312L|ZNF41_uc011mlm.1_Missense_Mutation_p.P226L NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 354 C2H2-type 2; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) ATCAACCTGGGGTTTCTGGGG 0.423 68 239 --- --- --- --- PASS SLC35A2 7355 broad.mit.edu 37 X 48767184 48767184 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:48767184G>T uc004dlo.1 - 2 185 c.181C>A c.(181-183)CCA>ACA p.P61T SLC35A2_uc011mml.1_Missense_Mutation_p.P74T|SLC35A2_uc004dlp.1_Missense_Mutation_p.P61T|SLC35A2_uc011mmm.1_Missense_Mutation_p.P89T|SLC35A2_uc011mmn.1_Intron|SLC35A2_uc004dlr.1_5'UTR|SLC35A2_uc004dlq.2_Missense_Mutation_p.P61T|SLC35A2_uc011mmo.1_Missense_Mutation_p.P74T NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 61 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 CGGTCCCCTGGCAACGTGCGG 0.597 5 19 --- --- --- --- PASS WDR45 11152 broad.mit.edu 37 X 48933067 48933067 + Silent SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:48933067G>T uc004dmk.1 - 9 955 c.783C>A c.(781-783)GTC>GTA p.V261V PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Silent_p.V159V|WDR45_uc004dmj.1_Silent_p.V222V|WDR45_uc004dml.1_Silent_p.V262V|WDR45_uc004dmm.1_Silent_p.V226V|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Silent_p.V152V|WDR45_uc004dmo.1_Silent_p.V284V|WDR45_uc004dmp.1_Silent_p.V262V NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 261 WD 3. autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 CAAAGATATGGACAGTACCCT 0.552 6 19 --- --- --- --- PASS IQSEC2 23096 broad.mit.edu 37 X 53284070 53284070 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:53284070C>T uc004dsd.2 - 4 1244 c.1043G>A c.(1042-1044)CGC>CAC p.R348H IQSEC2_uc004dsc.2_Missense_Mutation_p.R143H NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 338 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 GGCAGCCCTGCGGCTCAGGAA 0.602 5 22 --- --- --- --- PASS ZXDA 7789 broad.mit.edu 37 X 57936554 57936554 + Nonsense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:57936554C>A uc004dve.2 - 1 514 c.301G>T c.(301-303)GAG>TAG p.E101* NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 101 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CCCGCGGTCTCCACGTCGCCA 0.746 4 21 --- --- --- --- PASS VSIG4 11326 broad.mit.edu 37 X 65242194 65242194 + Missense_Mutation SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:65242194C>T uc004dwh.2 - 8 1238 c.1111G>A c.(1111-1113)GCC>ACC p.A371T VSIG4_uc004dwi.2_Missense_Mutation_p.A277T|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 371 Cytoplasmic (Potential). complement activation, alternative pathway integral to membrane protein binding 0 TTGATCTGGGCGATGATCTGG 0.517 25 83 --- --- --- --- PASS OPHN1 4983 broad.mit.edu 37 X 67454367 67454367 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:67454367G>T uc004dww.3 - 6 742 c.448C>A c.(448-450)CAC>AAC p.H150N OPHN1_uc011mpg.1_Missense_Mutation_p.H150N|OPHN1_uc004dwx.2_Missense_Mutation_p.H150N NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 150 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GAAGACAGGTGTAAGTGCCGA 0.408 34 129 --- --- --- --- PASS IGBP1 3476 broad.mit.edu 37 X 69354654 69354654 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:69354654C>A uc004dxv.2 + 2 969 c.470C>A c.(469-471)GCT>GAT p.A157D IGBP1_uc004dxw.2_Missense_Mutation_p.A157D NM_001551 NP_001542 P78318 IGBP1_HUMAN immunoglobulin binding protein 1 157 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(1)|pancreas(1) 2 CAAAGACAGGCTAAAATACAG 0.498 11 105 --- --- --- --- PASS NLGN3 54413 broad.mit.edu 37 X 70389551 70389551 + Silent SNP C T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:70389551C>T uc004dzb.2 + 7 2395 c.2091C>T c.(2089-2091)TCC>TCT p.S697S NLGN3_uc004dzc.2_Silent_p.S580S|NLGN3_uc011mps.1_Silent_p.S677S|NLGN3_uc004dze.2_Silent_p.S515S NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 717 Helical; (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) TGGGGGCCTCCCTCCTGTTCC 0.637 29 34 --- --- --- --- PASS PHKA1 5255 broad.mit.edu 37 X 71872438 71872438 + Missense_Mutation SNP T A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:71872438T>A uc004eax.3 - 12 1502 c.1201A>T c.(1201-1203)ATG>TTG p.M401L PHKA1_uc004eay.3_Missense_Mutation_p.M401L|PHKA1_uc011mqi.1_Missense_Mutation_p.M401L NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 401 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) TGACCCCACATGTGAGGCAAT 0.433 28 42 --- --- --- --- PASS CDX4 1046 broad.mit.edu 37 X 72674404 72674404 + Missense_Mutation SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:72674404G>A uc011mqk.1 + 3 838 c.838G>A c.(838-840)GTT>ATT p.V280I NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 280 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) GATACAGCAGGTTATAGTCTC 0.428 16 55 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128919 83128919 + Missense_Mutation SNP G C C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:83128919G>C uc004eei.1 + 4 1224 c.1203G>C c.(1201-1203)AAG>AAC p.K401N CYLC1_uc004eeh.1_Missense_Mutation_p.K400N NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 401 4. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AGGATGCAAAGAAAATTACAT 0.318 6 31 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83724375 83724375 + Missense_Mutation SNP C T T rs141784700 byFrequency TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:83724375C>T uc004eek.1 - 3 465 c.356G>A c.(355-357)AGG>AAG p.R119K HDX_uc011mqv.1_Missense_Mutation_p.R119K|HDX_uc004eel.1_Missense_Mutation_p.R61K NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 119 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGTTCCTTGCCTACTTGATGA 0.388 118 192 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99551818 99551818 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:99551818G>T uc010nmz.2 - 6 4580 c.2904C>A c.(2902-2904)GAC>GAA p.D968E PCDH19_uc004efw.3_Missense_Mutation_p.D920E|PCDH19_uc004efx.3_Missense_Mutation_p.D921E NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 968 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 TCCAGCACCTGTCAGAGTGGC 0.493 43 144 --- --- --- --- PASS HNRNPH2 3188 broad.mit.edu 37 X 100668298 100668298 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:100668298C>A uc004ehm.2 + 2 1492 c.1322C>A c.(1321-1323)TCC>TAC p.S441Y HNRNPH2_uc004ehn.2_Missense_Mutation_p.S441Y NM_019597 NP_062543 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 441 nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding 0 CAGGAAAACTCCAGTGACTAT 0.453 93 374 --- --- --- --- PASS ARMCX2 9823 broad.mit.edu 37 X 100911569 100911569 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:100911569G>T uc004eid.2 - 3 1361 c.1006C>A c.(1006-1008)CCT>ACT p.P336T ARMCX2_uc004eie.3_Missense_Mutation_p.P336T|ARMCX2_uc004eif.3_Missense_Mutation_p.P336T|ARMCX2_uc004eig.3_Missense_Mutation_p.P336T|ARMCX2_uc010nnt.2_Missense_Mutation_p.P336T NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 336 integral to membrane binding ovary(6) 6 TCAGAATCAGGGACCTCTGCC 0.607 23 111 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105152981 105152981 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:105152981C>A uc004emd.2 + 13 1651 c.1348C>A c.(1348-1350)CAG>AAG p.Q450K NRK_uc010npc.1_Missense_Mutation_p.Q118K NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 450 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CATGCCACTACAGGCTCAGGT 0.572 HNSCC(51;0.14) 11 44 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129059031 129059031 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:129059031C>A uc004euz.2 + 12 1637 c.1609C>A c.(1609-1611)CAG>AAG p.Q537K UTP14A_uc011mup.1_Missense_Mutation_p.Q485K|UTP14A_uc011muq.1_Missense_Mutation_p.Q483K NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 537 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AGAAGGGCAGCAGTCAGAGAG 0.478 44 208 --- --- --- --- PASS TFDP3 51270 broad.mit.edu 37 X 132351916 132351916 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:132351916C>A uc004exb.1 - 1 461 c.372G>T c.(370-372)AGG>AGT p.R124S NM_016521 NP_057605 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 124 Potential. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TGGTCCCTTTCCTCTGCACCG 0.587 35 124 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135405392 135405392 + Missense_Mutation SNP C A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:135405392C>A uc004ezu.1 + 5 817 c.526C>A c.(526-528)CGT>AGT p.R176S GPR112_uc010nsb.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 176 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AAGCATGATGCGTAGCTTTCC 0.448 118 185 --- --- --- --- PASS LDOC1 23641 broad.mit.edu 37 X 140271150 140271150 + Silent SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:140271150C>G uc004fbj.2 - 1 161 c.57G>C c.(55-57)CTG>CTC p.L19L NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 19 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) TCTCGATGCTCAGGGCGCGGT 0.677 4 35 --- --- --- --- PASS MAGEA11 4110 broad.mit.edu 37 X 148797511 148797511 + Missense_Mutation SNP C T T rs141055931 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:148797511C>T uc004fdq.2 + 5 467 c.365C>T c.(364-366)CCT>CTT p.P122L HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P93L NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 122 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CACTGCAAGCCTGAGGAAGGC 0.577 13 125 --- --- --- --- PASS MAGEA3 4102 broad.mit.edu 37 X 151935780 151935780 + Silent SNP C T T rs150153047 TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:151935780C>T uc004fgp.2 - 3 596 c.387G>A c.(385-387)CCG>CCA p.P129P NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 129 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) CCTTTGTGACCGGCTCCCTGG 0.527 96 167 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153594739 153594739 + Missense_Mutation SNP G T T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:153594739G>T uc004fkk.2 - 8 1414 c.1165C>A c.(1165-1167)CCC>ACC p.P389T FLNA_uc010nuu.1_Missense_Mutation_p.P389T NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 389 Filamin 2. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) TCCAGGCCGGGACCTTGGGCT 0.597 18 98 --- --- --- --- PASS PLXNA3 55558 broad.mit.edu 37 X 153692007 153692007 + Missense_Mutation SNP C G G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:153692007C>G uc004flm.2 + 6 1694 c.1521C>G c.(1519-1521)CAC>CAG p.H507Q NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 507 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 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) GGGACCCGCACTGTGGTTGGT 0.706 6 15 --- --- --- --- PASS CTAG2 30848 broad.mit.edu 37 X 153880851 153880851 + Silent SNP G A A TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chrX:153880851G>A uc004fmi.1 - 2 377 c.324C>T c.(322-324)ATC>ATT p.I108I CTAG2_uc004fmh.1_Silent_p.I108I NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 108 centrosome pancreas(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) CCCGGGACAGGATCCTGCGGA 0.612 25 104 --- --- --- --- PASS RBM15 64783 broad.mit.edu 37 1 110882542 110882543 + Frame_Shift_Del DEL TG - - TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr1:110882542_110882543delTG uc001dzl.1 + 1 598_599 c.515_516delTG c.(514-516)CTGfs p.L172fs RBM15_uc001dzm.1_Frame_Shift_Del_p.L172fs|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 172 RRM 1. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TACAAGACTCTGAAGATAAGCG 0.609 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 31 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179393337 179393343 + Frame_Shift_Del DEL TTAATAT - - TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr2:179393337_179393343delTTAATAT uc010zfg.1 - 309 99655_99661 c.99431_99437delATATTAA c.(99430-99438)AATATTAATfs p.N33144fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.N26839fs|TTN_uc010zfi.1_Frame_Shift_Del_p.N26772fs|TTN_uc010zfj.1_Frame_Shift_Del_p.N26647fs|TTN_uc002umq.2_Frame_Shift_Del_p.N161fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34071_34073 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) TTGTCCTTCATTAATATTTTGAGATCT 0.391 29 27 --- --- --- --- PCDH7 5099 broad.mit.edu 37 4 30723874 30723874 + Frame_Shift_Del DEL C - - TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr4:30723874delC uc003gsk.1 + 1 1838 c.830delC c.(829-831)ACCfs p.T277fs PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Frame_Shift_Del_p.T277fs NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 277 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TACGAGCTGACCCTGCGAGTG 0.692 2 6 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135048672 135048674 + In_Frame_Del DEL TGT - - TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr7:135048672_135048674delTGT uc011kpy.1 - 10 1864_1866 c.1772_1774delACA c.(1771-1776)AACACT>ACT p.N591del CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_In_Frame_Del_p.N588del|CNOT4_uc003vst.2_Intron NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GTGGTGGCAGTGTTGGACGTTGG 0.552 225 118 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Frame_Shift_Del DEL C - - TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx a371189b-5808-4408-824e-8dacec925cc5 8932f808-9727-47e3-b7d5-d19f0e577fe9 g.chr17:7578469delC uc002gim.2 - 5 655 c.461delG c.(460-462)GGCfs p.G154fs TP53_uc002gig.1_Frame_Shift_Del_p.G154fs|TP53_uc002gih.2_Frame_Shift_Del_p.G154fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G22fs|TP53_uc010cng.1_Frame_Shift_Del_p.G22fs|TP53_uc002gii.1_Frame_Shift_Del_p.G22fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G154fs|TP53_uc010cni.1_Frame_Shift_Del_p.G154fs|TP53_uc002gij.2_Frame_Shift_Del_p.G154fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G61fs|TP53_uc002gio.2_Frame_Shift_Del_p.G22fs|TP53_uc010vug.1_Frame_Shift_Del_p.G115fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 154 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G154V(36)|p.G154G(12)|p.G154S(9)|p.0?(7)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.G154fs*16(2)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.G154C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.D148fs*23(1)|p.P153_G154insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACGCGGGTGCCGGGCGGGGG 0.607 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 42 48 --- --- --- ---