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 PLA2G2F 64600 broad.mit.edu 37 1 20474835 20474835 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:20474835C>G uc009vpp.1 + 5 675 c.577C>G c.(577-579)CCG>GCG p.P193A NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 150 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CATCTATGAACCGCCCCCTGA 0.622 31 41 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32201435 32201435 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:32201435A>G uc001btn.2 - 23 3614 c.3260T>C c.(3259-3261)ATT>ACT p.I1087T BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'UTR|BAI2_uc010ogn.1_Missense_Mutation_p.I90T|BAI2_uc010ogo.1_Missense_Mutation_p.I729T|BAI2_uc010ogp.1_Missense_Mutation_p.I1020T|BAI2_uc010ogq.1_Missense_Mutation_p.I1087T|BAI2_uc001bto.2_Missense_Mutation_p.I1087T NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1087 Helical; Name=5; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TACCAGGACAATGACGGCTGC 0.637 6 5 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45501739 45501739 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:45501739C>T uc001cnd.2 - 9 2355 c.2127G>A c.(2125-2127)CTG>CTA p.L709L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 709 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) ATTGTTTTTGCAGTGTTTGCA 0.512 39 49 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66102055 66102055 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:66102055C>G uc001dci.2 + 20 3057 c.2855C>G c.(2854-2856)TCT>TGT p.S952C LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 952 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAAAAGGGTTCTGTTTGTATT 0.398 53 71 --- --- --- --- PASS MCOLN3 55283 broad.mit.edu 37 1 85510898 85510898 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:85510898G>T uc001dkp.2 - 2 239 c.146C>A c.(145-147)CCC>CAC p.P49H MCOLN3_uc001dkq.2_Missense_Mutation_p.P49H|MCOLN3_uc001dkr.2_Missense_Mutation_p.P49H|MCOLN3_uc001dks.3_5'UTR NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 49 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) CTTCTCACAGGGATTCATGAA 0.398 30 46 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103364528 103364528 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:103364528G>T uc001dul.2 - 55 4427 c.4109C>A c.(4108-4110)GCA>GAA p.A1370E COL11A1_uc001duk.2_Missense_Mutation_p.A566E|COL11A1_uc001dum.2_Missense_Mutation_p.A1382E|COL11A1_uc001dun.2_Missense_Mutation_p.A1331E|COL11A1_uc009weh.2_Missense_Mutation_p.A1254E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1370 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCTTCCCTCTGCACCTGCAGC 0.264 34 65 --- --- --- --- PASS AKNAD1 254268 broad.mit.edu 37 1 109380322 109380322 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:109380322C>A uc001dwa.2 - 7 1655 c.1386G>T c.(1384-1386)GTG>GTT p.V462V AKNAD1_uc010ovb.1_Silent_p.V169V|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 462 Potential. ovary(3) 3 TTTCACCTTCCACTTTTCTAA 0.358 50 65 --- --- --- --- PASS PEX11B 8799 broad.mit.edu 37 1 145522773 145522773 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:145522773G>C uc001eny.1 + 4 652 c.634G>C c.(634-636)GTC>CTC p.V212L NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.V198L|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank NM_003846 NP_003837 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 212 Interaction with PEX19 and peroxisome targeting. peroxisome fission|signal transduction integral to peroxisomal membrane protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGACGTGGTCAGAAATGC 0.577 46 140 --- --- --- --- PASS NBPF14 25832 broad.mit.edu 37 1 148004764 148004764 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:148004764T>C uc001eqq.2 - 22 2567 c.2550A>G c.(2548-2550)GAA>GAG p.E850E LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Silent_p.E198E|NBPF14_uc010pac.1_Silent_p.E423E NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 850 NBPF 10. cytoplasm ovary(1) 1 all_hematologic(923;0.032) CTTCAGGCTCTTCCACTTCCA 0.453 78 71 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152284056 152284056 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:152284056G>A uc001ezu.1 - 3 3342 c.3306C>T c.(3304-3306)TCC>TCT p.S1102S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1102 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTCACGTGCGGACTCTTGGT 0.577 Ichthyosis 275 395 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154090312 154090312 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:154090312T>A uc001fdw.2 - 12 1581 c.1509A>T c.(1507-1509)GAA>GAT p.E503D NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.E503D NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 503 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGACCACTGTTTCATTAGAAG 0.413 47 139 --- --- --- --- PASS AQP10 89872 broad.mit.edu 37 1 154295502 154295502 + Nonsense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:154295502G>T uc001feu.2 + 3 317 c.277G>T c.(277-279)GGA>TGA p.G93* AQP10_uc001fev.2_Nonsense_Mutation_p.G93*|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 93 Cytoplasmic (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGCATCGTTGGACGCCTCCC 0.458 109 152 --- --- --- --- PASS DCST2 127579 broad.mit.edu 37 1 154999173 154999173 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:154999173A>T uc001fgm.2 - 9 1441 c.1361T>A c.(1360-1362)CTA>CAA p.L454Q DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 454 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTCCACGGTTAGAGACACCAA 0.502 30 44 --- --- --- --- PASS OR10R2 343406 broad.mit.edu 37 1 158450135 158450135 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:158450135G>A uc010pik.1 + 1 468 c.468G>A c.(466-468)ATG>ATA p.M156I uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 156 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) CCACTCTTATGAGCTGGCAGG 0.473 8 261 --- --- --- --- PASS FCRL6 343413 broad.mit.edu 37 1 159785346 159785346 + Silent SNP G A A rs146819836 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:159785346G>A uc001fud.3 + 10 1242 c.1200G>A c.(1198-1200)GCG>GCA p.A400A FCRL6_uc001fuc.2_Missense_Mutation_p.G406R|FCRL6_uc009wsz.1_Missense_Mutation_p.G304R|FCRL6_uc009wta.2_Missense_Mutation_p.G390R NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 400 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) TCATCTGTGCGGAGGTGAGAT 0.522 78 97 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160093036 160093036 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:160093036G>T uc001fvc.2 + 4 343 c.211G>T c.(211-213)GCT>TCT p.A71S ATP1A2_uc001fvb.2_Missense_Mutation_p.A71S|ATP1A2_uc010piz.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 71 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGACGTTCTGGCTCGAGATGG 0.637 101 105 --- --- --- --- PASS C1orf111 284680 broad.mit.edu 37 1 162344289 162344289 + Missense_Mutation SNP T G G rs151080283 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:162344289T>G uc001gbx.2 - 3 399 c.335A>C c.(334-336)GAG>GCG p.E112A NM_182581 NP_872387 Q5T0L3 CA111_HUMAN hypothetical protein LOC284680 112 ovary(1) 1 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) GTCATAGGCCTCCAGCTGGCT 0.572 179 218 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169511813 169511813 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:169511813G>T uc001ggg.1 - 13 2660 c.2515C>A c.(2515-2517)CCT>ACT p.P839T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 839 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGCTGTAGAGGATCCTCTATA 0.468 143 211 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175348687 175348687 + Splice_Site SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:175348687C>A uc001gkp.1 - 7 2044 c.1963_splice c.e7+1 p.D655_splice TNR_uc009wwu.1_Splice_Site_p.D655_splice NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GTCTTACTCACCTGTCAGGGT 0.537 51 62 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176640161 176640161 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:176640161T>A uc001gkz.2 + 4 3211 c.2047T>A c.(2047-2049)TTC>ATC p.F683I PAPPA2_uc001gky.1_Missense_Mutation_p.F683I|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 683 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CAGTACTCACTTCCTCAACAT 0.512 165 232 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176927505 176927505 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:176927505A>T uc001glc.2 - 10 1924 c.1712T>A c.(1711-1713)GTG>GAG p.V571E ASTN1_uc001glb.1_Missense_Mutation_p.V571E|ASTN1_uc001gld.1_Missense_Mutation_p.V571E|ASTN1_uc009wwx.1_Missense_Mutation_p.V571E NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 579 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 ATCCTCCATCACAGTCATGTC 0.532 35 51 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 177001749 177001749 + Silent SNP T G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:177001749T>G uc001glc.2 - 3 920 c.708A>C c.(706-708)ACA>ACC p.T236T ASTN1_uc001glb.1_Silent_p.T236T|ASTN1_uc001gld.1_Silent_p.T236T|ASTN1_uc009wwx.1_Silent_p.T236T|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 236 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCAGGATAGGTGTCTCCCGGA 0.617 33 115 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177225213 177225213 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:177225213G>T uc001glf.2 + 3 740 c.428G>T c.(427-429)GGC>GTC p.G143V FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 143 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 AAAAAGTACGGCACTCATTTC 0.448 OREG0014006 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 71 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196434448 196434448 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:196434448T>C uc001gtd.1 - 8 673 c.613A>G c.(613-615)ACA>GCA p.T205A KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T205A|KCNT2_uc001gtf.1_Missense_Mutation_p.T205A|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T205A|KCNT2_uc009wyv.1_Missense_Mutation_p.T180A NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 205 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CATAGTAATGTAGATATTAAA 0.264 43 157 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197403908 197403908 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:197403908A>G uc001gtz.2 + 9 3050 c.2915A>G c.(2914-2916)GAA>GGA p.E972G CRB1_uc010poz.1_Missense_Mutation_p.E948G|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E860G|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.E453G|CRB1_uc001gub.1_Missense_Mutation_p.E621G NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 972 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ATTACCAGAGAACTCACCAAT 0.323 74 131 --- --- --- --- PASS LHX9 56956 broad.mit.edu 37 1 197898178 197898178 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:197898178G>T uc001guk.1 + 5 1420 c.983G>T c.(982-984)CGG>CTG p.R328L LHX9_uc001gui.1_Missense_Mutation_p.R319L|LHX9_uc001guj.1_Intron NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 328 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AACCTTTTGCGGCAGGAGAAT 0.507 49 48 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216465515 216465515 + Splice_Site SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:216465515A>T uc001hku.1 - 10 2227 c.1840_splice c.e10+1 p.G614_splice USH2A_uc001hkv.2_Splice_Site_p.G614_splice NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTGCTACTTACCTGTAGTGT 0.383 HNSCC(13;0.011) 53 182 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850647 216850647 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:216850647C>A uc001hkw.1 - 2 409 c.243G>T c.(241-243)TCG>TCT p.S81S ESRRG_uc001hky.1_Silent_p.S58S|ESRRG_uc009xdp.1_Silent_p.S58S|ESRRG_uc001hkz.1_Silent_p.S58S|ESRRG_uc010puc.1_Silent_p.S58S|ESRRG_uc001hla.1_Silent_p.S58S|ESRRG_uc001hlb.1_Silent_p.S58S|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.S58S|ESRRG_uc001hld.1_Silent_p.S58S|ESRRG_uc001hkx.1_Silent_p.S86S|ESRRG_uc009xdo.1_Silent_p.S58S|ESRRG_uc001hle.1_Silent_p.S58S NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 81 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.S81L(1) ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AGAGAGGTGGCGAGTCAAGTC 0.562 66 105 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234563324 234563324 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:234563324T>C uc001hwd.2 - 18 3249 c.3249A>G c.(3247-3249)CAA>CAG p.Q1083Q NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1083 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCTTTTACCTTTGATCACGCC 0.338 13 54 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237617780 237617780 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:237617780G>T uc001hyl.1 + 15 1502 c.1382G>T c.(1381-1383)GGC>GTC p.G461V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 461 Cytoplasmic (By similarity). 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) GATCTCATTGGCTACTTCCAC 0.483 29 90 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237632428 237632428 + Missense_Mutation SNP A C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:237632428A>C uc001hyl.1 + 17 1769 c.1649A>C c.(1648-1650)CAA>CCA p.Q550P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 550 Cytoplasmic (By similarity). 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) AACTGTGCTCAATTTTCTGGC 0.383 33 90 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237753131 237753131 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:237753131G>T uc001hyl.1 + 30 3757 c.3637G>T c.(3637-3639)GGT>TGT p.G1213C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1213 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. 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) GGCTCAAGTGGGTAGGATGAA 0.393 15 54 --- --- --- --- PASS CHRM3 1131 broad.mit.edu 37 1 240071955 240071955 + Nonsense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:240071955G>T uc001hyp.2 + 5 1983 c.1204G>T c.(1204-1206)GAG>TAG p.E402* NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 402 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GGTGGACTTGGAGAGGAAAGC 0.572 11 23 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240256749 240256749 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:240256749C>A uc010pyd.1 + 1 1565 c.1340C>A c.(1339-1341)CCG>CAG p.P447Q FMN2_uc010pye.1_Missense_Mutation_p.P447Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 447 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGAGGCGGCCGGAACCCTCC 0.687 38 65 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241099906 241099906 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:241099906C>G uc001hyv.2 - 5 657 c.327G>C c.(325-327)CGG>CGC p.R109R RGS7_uc010pyh.1_Silent_p.R83R|RGS7_uc010pyj.1_Silent_p.R25R|RGS7_uc001hyu.2_Silent_p.R109R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.R109R NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 109 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTACTTGAAACCGGTAAAAGG 0.393 20 129 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247582221 247582221 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:247582221C>A uc001icr.2 + 3 263 c.125C>A c.(124-126)CCG>CAG p.P42Q NLRP3_uc001ics.2_Missense_Mutation_p.P42Q|NLRP3_uc001icu.2_Missense_Mutation_p.P42Q|NLRP3_uc001icw.2_Missense_Mutation_p.P42Q|NLRP3_uc001icv.2_Missense_Mutation_p.P42Q|NLRP3_uc010pyw.1_Missense_Mutation_p.P40Q|NLRP3_uc001ict.1_Missense_Mutation_p.P40Q NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 42 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATCCCCCTCCCGAGGGGTCAG 0.557 28 29 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655125 247655125 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:247655125C>A uc001icz.1 + 1 696 c.696C>A c.(694-696)AGC>AGA p.S232R NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-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) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAGTCAGCAGCAGGGCGAAAG 0.582 99 148 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875325 247875325 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:247875325G>T uc001idj.1 - 1 733 c.733C>A c.(733-735)CTC>ATC p.L245I NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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;0.0168) ACCACGGTGAGATGCGAGGAG 0.532 92 105 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129572 248129572 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:248129572G>T uc010pzd.1 + 1 939 c.939G>T c.(937-939)ACG>ACT p.T313T OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGGAAGTGACGGGGGCAGTGA 0.433 53 90 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248202388 248202388 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:248202388G>T uc001idw.2 + 1 915 c.819G>T c.(817-819)CTG>CTT p.L273L OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ACAAGATTCTGGCTGTTTTCT 0.493 78 99 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525408 248525408 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:248525408C>A uc001ieh.1 + 1 526 c.526C>A c.(526-528)CTG>ATG p.L176M NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 176 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(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) GTGTCTCTTCCTGTCATCAGG 0.532 85 294 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525824 248525824 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:248525824T>A uc001ieh.1 + 1 942 c.942T>A c.(940-942)ACT>ACA p.T314T NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 314 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(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) CCATCCTCACTCCAGTGGTGA 0.468 75 230 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737519 248737519 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr1:248737519C>A uc001iep.1 - 1 540 c.540G>T c.(538-540)CTG>CTT p.L180L NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 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) AGAAAAAACTCAGGATTTTCC 0.512 31 160 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11767094 11767094 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:11767094G>A uc002rbk.1 + 25 4613 c.4313G>A c.(4312-4314)GGG>GAG p.G1438E GREB1_uc002rbp.1_Missense_Mutation_p.G436E NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1438 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCAGACAGAGGGATGTCCCGG 0.517 24 54 --- --- --- --- PASS LPIN1 23175 broad.mit.edu 37 2 11927241 11927241 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:11927241G>A uc010yjn.1 + 11 1757 c.1483G>A c.(1483-1485)GAC>AAC p.D495N LPIN1_uc010yjm.1_Missense_Mutation_p.D580N|LPIN1_uc002rbt.2_Missense_Mutation_p.D495N|LPIN1_uc010yjo.1_5'UTR NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 495 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACAGTTTGTGGACAACCCCGC 0.408 47 108 --- --- --- --- PASS PREB 10113 broad.mit.edu 37 2 27355472 27355472 + Silent SNP T G G rs142871408 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:27355472T>G uc002rix.1 - 5 1004 c.751A>C c.(751-753)AGG>CGG p.R251R PREB_uc002riy.1_Silent_p.R179R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.S251R NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 251 Cytoplasmic (Potential). COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTCACACCTGCAGGCCTGG 0.567 8 51 --- --- --- --- PASS UCN 7349 broad.mit.edu 37 2 27530406 27530406 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:27530406C>A uc002rjp.1 - 2 474 c.358G>T c.(358-360)GAC>TAC p.D120Y NM_003353 NP_003344 P55089 UCN1_HUMAN urocortin preproprotein 120 extracellular region neuropeptide hormone activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCACCGAGTCGAATATGATG 0.647 13 46 --- --- --- --- PASS STRN 6801 broad.mit.edu 37 2 37121150 37121150 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:37121150G>C uc002rpn.2 - 7 831 c.822C>G c.(820-822)GAC>GAG p.D274E STRN_uc010ezx.2_Missense_Mutation_p.D274E NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 274 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTTCACCGCTGTCAGGCAATG 0.353 30 143 --- --- --- --- PASS SIX3 6496 broad.mit.edu 37 2 45169617 45169617 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:45169617T>C uc002run.1 + 1 581 c.374T>C c.(373-375)ATC>ACC p.I125T NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 125 visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCGAGGCCATCAACAAACAC 0.672 8 15 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873622 48873622 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:48873622T>C uc010yol.1 + 5 2437 c.2390T>C c.(2389-2391)ATG>ACG p.M797T STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.M844T|GTF2A1L_uc002rws.1_Missense_Mutation_p.M140T|GTF2A1L_uc010yom.1_Missense_Mutation_p.M106T|GTF2A1L_uc002rwt.2_Missense_Mutation_p.M140T NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 797 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTACCAATTATGGTGACAGAG 0.353 27 90 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63631375 63631375 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:63631375G>A uc002sch.2 - 10 1689 c.1243C>T c.(1243-1245)CTG>TTG p.L415L C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.L256L|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.L223L|C2orf86_uc002sci.1_Silent_p.L391L|C2orf86_uc010fcr.1_Silent_p.L305L NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 415 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 TCAGCCAACAGTTGGATGTTA 0.453 18 99 --- --- --- --- PASS TACR1 6869 broad.mit.edu 37 2 75276594 75276594 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:75276594C>A uc002sng.2 - 5 1774 c.1189G>T c.(1189-1191)GAG>TAG p.E397* NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 397 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) CTGAAGCTCTCTGTCATGGTC 0.607 10 82 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385494 79385494 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:79385494G>C uc002sod.1 - 3 546 c.291C>G c.(289-291)AAC>AAG p.N97K REG3A_uc002soe.1_Missense_Mutation_p.N97K|REG3A_uc002sof.1_Missense_Mutation_p.N97K NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 97 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ATGAGTAGCTGTTACCAATGC 0.572 15 62 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385570 79385570 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:79385570G>T uc002sod.1 - 3 470 c.215C>A c.(214-216)CCC>CAC p.P72H REG3A_uc002soe.1_Missense_Mutation_p.P72H|REG3A_uc002sof.1_Missense_Mutation_p.P72H NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 72 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GTTTCCAGAGGGCCGCTTCTG 0.582 11 64 --- --- --- --- PASS RMND5A 64795 broad.mit.edu 37 2 86947815 86947815 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:86947815C>T uc010ytm.1 + 1 402 c.25C>T c.(25-27)CGC>TGC p.R9C RMND5A_uc002srs.3_5'UTR|VPS24_uc010ytl.1_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R9C NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 9 ovary(1)|skin(1) 2 GACGGTGGAGCGCGAGCTGGA 0.716 4 4 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89266205 89266205 + RNA SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:89266205G>A uc010ytr.1 - 94 c.7487C>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. ATCCTTACCTGGGAGCCAGAG 0.557 35 175 --- --- --- --- PASS ZNF514 84874 broad.mit.edu 37 2 95815218 95815218 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:95815218G>A uc002sue.1 - 5 1386 c.1012C>T c.(1012-1014)CAT>TAT p.H338Y ZNF514_uc002sud.1_Missense_Mutation_p.H411Y NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 338 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCCAGTATGAAATCTGTAA 0.438 32 53 --- --- --- --- PASS LOC285033 285033 broad.mit.edu 37 2 96906157 96906157 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:96906157G>T uc002svp.1 + 1 181 c.96G>T c.(94-96)ATG>ATT p.M32I LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron NM_001037228 NP_001032305 Q3KRF4 Q3KRF4_HUMAN hypothetical protein LOC285033 32 0 AACTCCTCATGGAAGCATCTG 0.443 28 65 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96961333 96961333 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:96961333C>T uc002svu.2 - 14 1821 c.1735G>A c.(1735-1737)GAG>AAG p.E579K NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 579 Helicase ATP-binding 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 GCACTGATCTCTTCTTTGCAC 0.567 33 52 --- --- --- --- PASS ZAP70 7535 broad.mit.edu 37 2 98351892 98351892 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:98351892C>A uc002syd.1 + 10 1469 c.1262C>A c.(1261-1263)CCG>CAG p.P421Q ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.P311Q|ZAP70_uc002syf.1_Missense_Mutation_p.P114Q NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 421 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GGGGGCGGGCCGCTGCACAAG 0.682 35 63 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103142801 103142801 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:103142801C>A uc002tbz.3 + 11 2491 c.2034C>A c.(2032-2034)TTC>TTA p.F678L NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 678 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CTGCTGGGTTCTCAGGTAAGC 0.388 12 139 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132020969 132020969 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:132020969A>T uc002tsn.2 + 15 1993 c.1941A>T c.(1939-1941)GAA>GAT p.E647D PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247D|POTEE_uc002tsl.2_Missense_Mutation_p.E229D|POTEE_uc010fmy.1_Missense_Mutation_p.E111D NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 647 Potential. ATP binding 0 TCTTGCATGAAAATAGTACGT 0.353 14 30 --- --- --- --- PASS ZRANB3 84083 broad.mit.edu 37 2 135988481 135988481 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:135988481T>C uc002tum.2 - 13 1673 c.1556A>G c.(1555-1557)CAG>CGG p.Q519R ZRANB3_uc002tuk.2_Missense_Mutation_p.Q62R|ZRANB3_uc002tul.2_Missense_Mutation_p.Q519R NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 519 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) AATATCATGCTGTTTTTCTTT 0.323 31 33 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138169316 138169316 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:138169316G>A uc002tva.1 + 13 2740 c.2740G>A c.(2740-2742)GAG>AAG p.E914K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.E804K NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGCAGAAGGGAGCCTCACCG 0.478 23 140 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152314451 152314451 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:152314451G>A uc002txm.2 + 24 2959 c.2829G>A c.(2827-2829)ATG>ATA p.M943I RIF1_uc002txl.2_Missense_Mutation_p.M943I|RIF1_uc002txn.2_Missense_Mutation_p.M943I|RIF1_uc002txo.2_Missense_Mutation_p.M943I NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 943 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) CCAAAGTGATGATGTTGGTTT 0.323 18 58 --- --- --- --- PASS RBMS1 5937 broad.mit.edu 37 2 161223842 161223842 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:161223842T>C uc002ubo.2 - 2 580 c.136A>G c.(136-138)AAC>GAC p.N46D RBMS1_uc002ubj.2_Missense_Mutation_p.N13D|RBMS1_uc002ubk.2_Missense_Mutation_p.N13D|RBMS1_uc002ubl.2_Missense_Mutation_p.N44D|RBMS1_uc002ubn.2_Missense_Mutation_p.N46D|RBMS1_uc002ubi.3_Missense_Mutation_p.N46D|RBMS1_uc002ubm.2_Missense_Mutation_p.N13D|RBMS1_uc002ubp.2_Missense_Mutation_p.N46D|RBMS1_uc010fox.2_Missense_Mutation_p.N46D NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 46 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 ctactgttgttattactgctg 0.443 34 48 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166183402 166183402 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:166183402G>T uc002udc.2 + 13 2347 c.2057G>T c.(2056-2058)AGT>ATT p.S686I SCN2A_uc002udd.2_Missense_Mutation_p.S686I|SCN2A_uc002ude.2_Missense_Mutation_p.S686I NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 686 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGACGGTCCAGTTCTTATCAT 0.378 24 160 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170011089 170011089 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:170011089G>A uc002ues.2 - 66 12389 c.12176C>T c.(12175-12177)CCT>CTT p.P4059L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4059 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GACATTGTCAGGCAGTAGCAA 0.353 38 46 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170022552 170022552 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:170022552C>T uc002ues.2 - 62 11861 c.11648G>A c.(11647-11649)TGT>TAT p.C3883Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3883 LDL-receptor class A 35.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGTGAATTACAGGGAACATC 0.408 48 60 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171509592 171509592 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:171509592T>C uc002ufy.2 + 35 4130 c.3987T>C c.(3985-3987)TTT>TTC p.F1329F MYO3B_uc002ufz.2_Silent_p.F1302F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1329 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 CTTCCTTTTTTTCTTCATCCT 0.418 15 163 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:178098960C>A uc002ulh.3 - 2 640 c.85G>T c.(85-87)GAT>TAT p.D29Y NFE2L2_uc002ulg.3_Missense_Mutation_p.D13Y|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13Y|NFE2L2_uc002uli.3_Missense_Mutation_p.D13Y|NFE2L2_uc010fra.2_Missense_Mutation_p.D13Y|NFE2L2_uc010frb.2_Missense_Mutation_p.D13Y NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363 Mis NSCLC|HNSCC HNSCC(56;0.16) 22 44 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179402140 179402140 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:179402140G>T uc010zfg.1 - 304 92314 c.92090C>A c.(92089-92091)GCT>GAT p.A30697D uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24392D|TTN_uc010zfi.1_Missense_Mutation_p.A24325D|TTN_uc010zfj.1_Missense_Mutation_p.A24200D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31624 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) GTATTTCCCAGCATGAGTCTT 0.353 18 31 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179614327 179614327 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:179614327C>A uc002unb.2 - 46 13024 c.12800G>T c.(12799-12801)GGA>GTA p.G4267V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAATATTTTCCATAAATTTC 0.388 22 98 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179644883 179644883 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:179644883T>C uc010zfg.1 - 22 3797 c.3573A>G c.(3571-3573)ACA>ACG p.T1191T TTN_uc010zfh.1_Silent_p.T1145T|TTN_uc010zfi.1_Silent_p.T1145T|TTN_uc010zfj.1_Silent_p.T1145T|TTN_uc002unb.2_Silent_p.T1191T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1191 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) CAGTCACTTGTGTCTGATAAA 0.303 16 99 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179720202 179720202 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:179720202C>A uc002unf.1 - 9 1264 c.1207G>T c.(1207-1209)GAT>TAT p.D403Y NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 403 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTAACTTTATCACTTGGATAA 0.308 34 60 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180815461 180815461 + Splice_Site SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:180815461T>C uc010frh.1 - 19 2220 c.1920_splice c.e19-1 p.T640_splice CWC22_uc002uno.2_Splice_Site_p.T162_splice|CWC22_uc002unp.2_Splice_Site_p.T640_splice NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog catalytic step 2 spliceosome protein binding|RNA binding 0 AGTTCATCCCTAATTTAAAAT 0.343 17 76 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196851843 196851843 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:196851843A>G uc002utj.3 - 14 1802 c.1701T>C c.(1699-1701)ATT>ATC p.I567I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 567 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GTTTCCCACAAATAATATCTG 0.328 48 72 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950673 198950673 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:198950673A>T uc010fsp.2 + 2 2723 c.2432A>T c.(2431-2433)CAA>CTA p.Q811L PLCL1_uc002uuv.3_Missense_Mutation_p.Q732L 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; 811 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) TTTATAGGGCAATATACGATA 0.438 60 76 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216272842 216272842 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:216272842G>T uc002vfa.2 - 17 2773 c.2507C>A c.(2506-2508)GCT>GAT p.A836D FN1_uc002vfb.2_Missense_Mutation_p.A836D|FN1_uc002vfc.2_Missense_Mutation_p.A836D|FN1_uc002vfd.2_Missense_Mutation_p.A836D|FN1_uc002vfe.2_Missense_Mutation_p.A836D|FN1_uc002vff.2_Missense_Mutation_p.A836D|FN1_uc002vfg.2_Missense_Mutation_p.A836D|FN1_uc002vfh.2_Missense_Mutation_p.A836D|FN1_uc002vfi.2_Missense_Mutation_p.A836D|FN1_uc002vfj.2_Missense_Mutation_p.A836D NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 836 Fibronectin type-III 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTGATGGGAGCCTGGGGTCT 0.532 20 169 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216293051 216293051 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:216293051G>A uc002vfa.2 - 6 962 c.696C>T c.(694-696)AAC>AAT p.N232N FN1_uc002vfb.2_Silent_p.N232N|FN1_uc002vfc.2_Silent_p.N232N|FN1_uc002vfd.2_Silent_p.N232N|FN1_uc002vfe.2_Silent_p.N232N|FN1_uc002vff.2_Silent_p.N232N|FN1_uc002vfg.2_Silent_p.N232N|FN1_uc002vfh.2_Silent_p.N232N|FN1_uc002vfi.2_Silent_p.N232N|FN1_uc002vfj.2_Silent_p.N232N|FN1_uc002vfl.2_Silent_p.N232N NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 232 Fibrin- and heparin-binding 1.|Fibronectin type-I 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTCCTGATCGTTGCATCTAT 0.468 41 45 --- --- --- --- PASS FAM124B 79843 broad.mit.edu 37 2 225266253 225266253 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:225266253C>T uc002vnx.2 - 1 459 c.233G>A c.(232-234)GGA>GAA p.G78E FAM124B_uc002vnw.2_Missense_Mutation_p.G78E NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 78 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CCTATCCTCTCCCGGGCTTTC 0.562 25 40 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227895295 227895295 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:227895295G>T uc010zlt.1 - 41 4491 c.3837C>A c.(3835-3837)GGC>GGA p.G1279G NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1279 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCCCAGGGAGGCCTGGAGGCC 0.552 11 89 --- --- --- --- PASS UGT1A9 54600 broad.mit.edu 37 2 234581152 234581152 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr2:234581152C>T uc002vus.2 + 1 609 c.572C>T c.(571-573)CCC>CTC p.P191L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.P191L NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 191 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) TCCTATGTCCCCAGAATTCTC 0.483 33 243 --- --- --- --- PASS NUP210 23225 broad.mit.edu 37 3 13401854 13401854 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:13401854G>A uc003bxv.1 - 15 2153 c.2070C>T c.(2068-2070)ATC>ATT p.I690I NUP210_uc003bxx.2_Silent_p.I362I NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 690 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GAGCCAGGCCGATGCTGTCAG 0.572 10 33 --- --- --- --- PASS ZNF620 253639 broad.mit.edu 37 3 40552985 40552985 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:40552985G>A uc003ckk.2 + 3 198 c.49G>A c.(49-51)GCT>ACT p.A17T ZNF620_uc003ckl.2_Intron NM_175888 NP_787084 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TGAGGATGTGGCTGTGTACTT 0.517 5 149 --- --- --- --- PASS FYCO1 79443 broad.mit.edu 37 3 46010092 46010092 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:46010092C>A uc003cpb.3 - 8 940 c.734G>T c.(733-735)CGG>CTG p.R245L FYCO1_uc011bal.1_Missense_Mutation_p.R245L NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 245 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CTGCTTCTCCCGCACCTCCAA 0.577 26 37 --- --- --- --- PASS TRAIP 10293 broad.mit.edu 37 3 49881319 49881319 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:49881319C>T uc003cxs.1 - 5 429 c.323G>A c.(322-324)CGG>CAG p.R108Q TRAIP_uc010hla.1_Missense_Mutation_p.R108Q|TRAIP_uc011bcx.1_Missense_Mutation_p.R108Q NM_005879 NP_005870 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 108 Potential. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGCGTATCCCGCAGAGTGTC 0.562 48 75 --- --- --- --- PASS FEZF2 55079 broad.mit.edu 37 3 62357341 62357341 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:62357341A>T uc003dlh.2 - 2 1061 c.854T>A c.(853-855)GTG>GAG p.V285E FEZF2_uc003dli.2_Missense_Mutation_p.V285E NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 285 C2H2-type 1. transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) AGCGTTAAACACCTATGGAAA 0.617 16 41 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62522216 62522216 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:62522216G>C uc003dll.2 - 12 2367 c.2007C>G c.(2005-2007)ATC>ATG p.I669M CADPS_uc003dlk.1_Missense_Mutation_p.I173M|CADPS_uc003dlm.2_Missense_Mutation_p.I669M|CADPS_uc003dln.2_Missense_Mutation_p.I669M NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 669 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GGTTGGAAGAGATAAATTCAT 0.398 66 99 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73673863 73673863 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:73673863G>C uc003dpl.1 - 1 210 c.114C>G c.(112-114)TGC>TGG p.C38W NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 38 RING-type; degenerate. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGCAGCCGGCGCAGAAGACGT 0.716 3 1 --- --- --- --- PASS ZNF654 55279 broad.mit.edu 37 3 88189750 88189750 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:88189750C>T uc003dqv.2 + 1 1489 c.1290C>T c.(1288-1290)GTC>GTT p.V430V CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GTGATATAGTCAATGGACACA 0.348 17 191 --- --- --- --- PASS ZNF654 55279 broad.mit.edu 37 3 88189791 88189791 + Nonsense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:88189791C>G uc003dqv.2 + 1 1530 c.1331C>G c.(1330-1332)TCA>TGA p.S444* CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TTAGTTTCATCAGATCCTGCT 0.373 16 196 --- --- --- --- PASS ZNF654 55279 broad.mit.edu 37 3 88189815 88189815 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:88189815C>G uc003dqv.2 + 1 1554 c.1355C>G c.(1354-1356)ACA>AGA p.T452R CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AAAATTGATACAAACAGAATC 0.378 20 202 --- --- --- --- PASS NSUN3 63899 broad.mit.edu 37 3 93803157 93803157 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:93803157T>A uc003drl.1 + 3 445 c.329T>A c.(328-330)CTG>CAG p.L110Q NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 110 methyltransferase activity skin(1) 1 ATTGGAAACCTGAAAAAATAT 0.458 32 206 --- --- --- --- PASS NSUN3 63899 broad.mit.edu 37 3 93803158 93803158 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:93803158G>A uc003drl.1 + 3 446 c.330G>A c.(328-330)CTG>CTA p.L110L NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 110 methyltransferase activity skin(1) 1 TTGGAAACCTGAAAAAATATT 0.458 32 209 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97887807 97887807 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:97887807G>T uc011bgu.1 + 1 264 c.264G>T c.(262-264)AAG>AAT p.K88N NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCTTAGCTAAGAGTAAGATGA 0.378 61 206 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108391468 108391468 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:108391468C>A uc003dxd.2 + 23 2976 c.2554C>A c.(2554-2556)CTG>ATG p.L852M DZIP3_uc003dxf.1_Missense_Mutation_p.L852M|DZIP3_uc011bhm.1_Missense_Mutation_p.L303M NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 852 Potential. protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGTAAGCAAACTGAACGCAGA 0.398 24 82 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111319669 111319669 + Nonsense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:111319669C>G uc003dxw.2 + 8 1213 c.1043C>G c.(1042-1044)TCA>TGA p.S348* CD96_uc003dxv.2_Nonsense_Mutation_p.S332*|CD96_uc003dxx.2_Nonsense_Mutation_p.S332*|CD96_uc010hpy.1_Nonsense_Mutation_p.S332* NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 348 Extracellular (Potential).|Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 CCAGCCCAATCAGACAACTTG 0.383 Opitz_Trigonocephaly_syndrome 25 145 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122632465 122632465 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:122632465G>T uc003efz.1 - 16 2500 c.2196C>A c.(2194-2196)AGC>AGA p.S732R SEMA5B_uc011bju.1_Missense_Mutation_p.S674R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S732R|SEMA5B_uc010hro.1_Missense_Mutation_p.S674R|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 732 Extracellular (Potential).|TSP type-1 2. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGCTGCACTTGCTCCAGGAGC 0.677 10 31 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123452795 123452795 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:123452795C>G uc003ego.2 - 10 1330 c.1048G>C c.(1048-1050)GCA>CCA p.A350P MYLK_uc011bjw.1_Missense_Mutation_p.A350P|MYLK_uc003egp.2_Missense_Mutation_p.A350P|MYLK_uc003egq.2_Missense_Mutation_p.A350P|MYLK_uc003egr.2_Missense_Mutation_p.A350P|MYLK_uc003egs.2_Missense_Mutation_p.A174P NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 350 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632 59 217 --- --- --- --- PASS SLCO2A1 6578 broad.mit.edu 37 3 133692604 133692604 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:133692604C>A uc003eqa.3 - 3 574 c.300G>T c.(298-300)CTG>CTT p.L100L SLCO2A1_uc003eqb.3_Silent_p.L100L|SLCO2A1_uc011blv.1_Silent_p.L100L|SLCO2A1_uc010htw.1_5'UTR NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 100 Helical; Name=3; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 CGATGCCAATCAGACGTGGAC 0.567 7 39 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140401468 140401468 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:140401468G>A uc003eto.1 + 2 697 c.506G>A c.(505-507)TGC>TAC p.C169Y NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 169 RING-type. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TGCGAGAAGTGCCTGCGGCAG 0.607 28 113 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142188344 142188344 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:142188344A>T uc003eux.3 - 38 6509 c.6387T>A c.(6385-6387)CAT>CAA p.H2129Q ATR_uc003euy.1_Missense_Mutation_p.H15Q NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2129 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 AATAGTTTGTATGCTCTGTGA 0.348 Other_conserved_DNA_damage_response_genes 85 92 --- --- --- --- PASS CPB1 1360 broad.mit.edu 37 3 148562331 148562331 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:148562331C>A uc003ewl.2 + 7 666 c.643C>A c.(643-645)CTG>ATG p.L215M NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 215 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTTTTATGTCCTGCCTGTGCT 0.423 26 94 --- --- --- --- PASS OTOL1 131149 broad.mit.edu 37 3 161220152 161220152 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:161220152C>A uc011bpb.1 + 3 512 c.512C>A c.(511-513)GCA>GAA p.A171E NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 171 Collagen-like 1. collagen 0 AAACCGGGAGCACAAGGTAGA 0.423 27 34 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164712177 164712177 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:164712177G>T uc003fei.2 - 41 4771 c.4709C>A c.(4708-4710)TCC>TAC p.S1570Y NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1570 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCATTCCAGGAAGCGGGATC 0.299 HNSCC(35;0.089) 99 132 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167016230 167016230 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:167016230G>T uc003fep.2 - 18 2065 c.1742C>A c.(1741-1743)GCC>GAC p.A581D ZBBX_uc011bpc.1_Missense_Mutation_p.A581D|ZBBX_uc003feq.2_Missense_Mutation_p.A552D NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 581 intracellular zinc ion binding ovary(2) 2 ACTTCTGCAGGCTATTTCTTG 0.289 43 247 --- --- --- --- PASS TERC 7012 broad.mit.edu 37 3 169482446 169482446 + RNA SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:169482446G>T uc003ffr.1 - 1 c.403C>A NR_001566 Homo sapiens cDNA clone IMAGE:40002477. 0 TCAGGGAATCGCGCCGCGCGC 0.677 Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 14 63 --- --- --- --- PASS ARPM1 84517 broad.mit.edu 37 3 169485281 169485281 + Nonsense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:169485281C>T uc003ffs.1 - 2 1433 c.1058G>A c.(1057-1059)TGG>TAG p.W353* TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 353 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AGCAGTGATCCACATGTCCTG 0.418 9 171 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 171965446 171965446 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:171965446C>T uc003fhy.2 + 5 560 c.388C>T c.(388-390)CAT>TAT p.H130Y FNDC3B_uc003fhz.3_Missense_Mutation_p.H130Y|FNDC3B_uc003fia.2_Missense_Mutation_p.H61Y NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 130 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TCTGACTCACCATCCACATTT 0.542 291 190 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179096548 179096548 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:179096548G>A uc003fjs.2 + 14 1734 c.1608G>A c.(1606-1608)TTG>TTA p.L536L MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L564L|MFN1_uc010hxc.2_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 536 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATCGATTTTTGGGCCCTAGAA 0.363 13 207 --- --- --- --- PASS FETUB 26998 broad.mit.edu 37 3 186370293 186370293 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:186370293T>A uc010hyq.2 + 8 1283 c.1022T>A c.(1021-1023)ATT>AAT p.I341N FETUB_uc011brz.1_Missense_Mutation_p.I193N|FETUB_uc003fqn.2_Missense_Mutation_p.I341N|FETUB_uc003fqo.2_Missense_Mutation_p.I236N|FETUB_uc010hyr.2_Missense_Mutation_p.I304N|FETUB_uc010hys.2_Missense_Mutation_p.I193N|FETUB_uc003fqp.3_Missense_Mutation_p.I276N NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 341 extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) ACCCTGGATATTTCCTTCCTC 0.542 47 268 --- --- --- --- PASS HRG 3273 broad.mit.edu 37 3 186383826 186383826 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:186383826G>T uc003fqq.2 + 1 29 c.6G>T c.(4-6)AAG>AAT p.K2N NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 2 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACAAAATGAAGGCACTCATTG 0.443 14 94 --- --- --- --- PASS UTS2D 257313 broad.mit.edu 37 3 190995924 190995924 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:190995924G>T uc003fsu.2 - 6 926 c.139C>A c.(139-141)CGT>AGT p.R47S NM_198152 NP_937795 Q765I0 UTS2B_HUMAN urotensin 2 domain containing precursor 47 extracellular region hormone activity 0 all_cancers(143;1.77e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000214) AGTTCCTCACGATTTGTATAT 0.284 11 70 --- --- --- --- PASS MUC20 200958 broad.mit.edu 37 3 195453110 195453110 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr3:195453110G>A uc010hzo.2 + 3 1249 c.1123G>A c.(1123-1125)GTC>ATC p.V375I MUC20_uc010hzp.2_Missense_Mutation_p.V340I|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 546 Involved in oligomerization. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TTACGTCAAAGTCTCAGGAGC 0.572 10 80 --- --- --- --- PASS PIGG 54872 broad.mit.edu 37 4 517400 517400 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:517400G>T uc003gak.3 + 9 1903 c.1767G>T c.(1765-1767)CTG>CTT p.L589L PIGG_uc003gaj.3_Silent_p.L581L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L456L|PIGG_uc003gal.3_Silent_p.L500L NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 589 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GTCTAGCTCTGAGCCAAGAAA 0.607 62 61 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20541128 20541128 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:20541128C>T uc003gpr.1 + 19 2101 c.1897C>T c.(1897-1899)CGT>TGT p.R633C SLIT2_uc003gps.1_Missense_Mutation_p.R625C NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 633 LRR 16. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CAGTTCTGTGCGTTTGCTTTC 0.388 23 93 --- --- --- --- PASS KCNIP4 80333 broad.mit.edu 37 4 21305467 21305467 + Missense_Mutation SNP T G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:21305467T>G uc003gqf.1 - 1 63 c.63A>C c.(61-63)TTA>TTC p.L21F KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron NM_147183 NP_671712 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 4 Error:Variant_position_missing_in_Q6PIL6_after_alignment plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) ACTGTTCCAATAATTTAACAA 0.403 33 38 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46099312 46099312 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:46099312C>A uc003gxb.2 - 2 311 c.159G>T c.(157-159)TGG>TGT p.W53C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 53 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GGGCCAAGACCCAGGTTTTGT 0.363 80 126 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55141131 55141131 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:55141131C>A uc003han.3 + 12 2108 c.1777C>A c.(1777-1779)CTA>ATA p.L593I PDGFRA_uc003haa.2_Missense_Mutation_p.L353I|PDGFRA_uc010igq.1_Missense_Mutation_p.L487I|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 593 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.L593L(1) soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AAGAGATGGACTAGTGCTTGG 0.453 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 34 41 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56820422 56820422 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:56820422T>A uc003hbi.2 + 4 579 c.345T>A c.(343-345)GCT>GCA p.A115A CEP135_uc003hbh.1_Silent_p.A115A|CEP135_uc010igz.1_5'UTR NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 115 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) GTGAAACAGCTGATCTGAAAT 0.313 36 53 --- --- --- --- PASS SMR3A 26952 broad.mit.edu 37 4 71232593 71232593 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:71232593C>T uc003hfg.1 + 3 368 c.287C>T c.(286-288)CCT>CTT p.P96L SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 96 Pro-rich. extracellular region 0 all_hematologic(202;0.196) TCTCTTCCTCCTCCTTATGGC 0.537 4 100 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77660963 77660963 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:77660963C>T uc011cbx.1 + 5 2590 c.1637C>T c.(1636-1638)CCA>CTA p.P546L SHROOM3_uc011cbz.1_Missense_Mutation_p.P370L|SHROOM3_uc003hkf.1_Missense_Mutation_p.P421L|SHROOM3_uc003hkg.2_Missense_Mutation_p.P324L NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 546 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GAGAAGAAACCAGAAGCTACA 0.512 53 102 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96166286 96166286 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:96166286C>A uc003htp.1 - 6 939 c.785G>T c.(784-786)GGC>GTC p.G262V UNC5C_uc010ilc.1_Missense_Mutation_p.G262V|UNC5C_uc003htq.2_Missense_Mutation_p.G262V NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 262 Extracellular (Potential).|TSP type-1 1. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GGTGGACCAGCCACCGTTGAC 0.483 15 12 --- --- --- --- PASS CISD2 493856 broad.mit.edu 37 4 103790340 103790340 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:103790340C>G uc003hwt.3 + 1 206 c.99C>G c.(97-99)CTC>CTG p.L33L UBE2D3_uc003hwq.2_5'Flank|UBE2D3_uc003hwr.2_5'Flank NM_001008388 NP_001008389 Q8N5K1 CISD2_HUMAN CDGSH iron sulfur domain 2 33 Lumenal (Potential). multicellular organismal aging|regulation of autophagy endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|protein complex 2 iron, 2 sulfur cluster binding|metal ion binding|protein homodimerization activity 0 OV - Ovarian serous cystadenocarcinoma(123;1.97e-08) TCGCTAGGCTCACAGGTAATC 0.612 9 9 --- --- --- --- PASS MAD2L1 4085 broad.mit.edu 37 4 120982076 120982076 + Missense_Mutation SNP C T T rs78047690 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:120982076C>T uc003idl.2 - 4 522 c.398G>A c.(397-399)AGA>AAA p.R133K MAD2L1_uc003idm.2_3'UTR NM_002358 NP_002349 Q13257 MD2L1_HUMAN MAD2-like 1 133 HORMA. R->A: Prevents aggregation and promotes formation of monomeric protein that slowly interconverts between the open and closed conformation. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity 0 TGTGATCTGTCTGATCACTGA 0.353 3 57 --- --- --- --- PASS PRDM5 11107 broad.mit.edu 37 4 121738064 121738064 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:121738064T>A uc003idn.2 - 6 916 c.666A>T c.(664-666)ACA>ACT p.T222T PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 222 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 TGCTTTTCGCTGTGCACTGAA 0.368 73 94 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123268745 123268745 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:123268745A>G uc003ieh.2 + 74 12985 c.12940A>G c.(12940-12942)AAA>GAA p.K4314E KIAA1109_uc003iem.2_Missense_Mutation_p.K670E NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4314 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ATCATCAAGAAAAGCTTACTG 0.458 6 51 --- --- --- --- PASS IL2 3558 broad.mit.edu 37 4 123374898 123374898 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:123374898G>T uc003ier.2 - 3 373 c.318C>A c.(316-318)ATC>ATA p.I106I NM_000586 NP_000577 P60568 IL2_HUMAN interleukin 2 precursor 106 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity skin(1) 1 LUSC - Lung squamous cell carcinoma(721;0.185) TGATATTGCTGATTAAGTCCC 0.358 T TNFRSF17 intestinal T-cell lymphoma 44 87 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134076121 134076121 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:134076121G>C uc003iha.2 + 3 3566 c.2740G>C c.(2740-2742)GGA>CGA p.G914R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 914 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CAGTGGTCATGGAGACAGTGA 0.413 27 43 --- --- --- --- PASS NR3C2 4306 broad.mit.edu 37 4 149356359 149356359 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:149356359G>C uc003ilj.3 - 2 1988 c.1654C>G c.(1654-1656)CCT>GCT p.P552A NR3C2_uc003ilk.3_Missense_Mutation_p.P552A|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 552 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GTATTGACAGGAGGAAAGGAA 0.448 8 89 --- --- --- --- PASS LRAT 9227 broad.mit.edu 37 4 155670218 155670218 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:155670218G>T uc003iom.1 + 2 950 c.623G>T c.(622-624)TGT>TTT p.C208F LRAT_uc003ion.1_Missense_Mutation_p.C208F NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 208 Helical; (Potential). C->A: Does not affect activity. response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) TCTATAGTCTGTACGGGCTTG 0.408 70 104 --- --- --- --- PASS GALNT7 51809 broad.mit.edu 37 4 174090001 174090001 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr4:174090001T>A uc003isz.3 + 1 98 c.15T>A c.(13-15)ATT>ATA p.I5I uc003isy.1_Intron NM_017423 NP_059119 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 5 Cytoplasmic (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1) 1 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) GGCTGAAGATTGGGTTCATCT 0.438 7 14 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13759076 13759076 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:13759076T>A uc003jfd.2 - 61 10340 c.10298A>T c.(10297-10299)CAA>CTA p.Q3433L DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3433 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GCGATTCTCTTGCACCACCAA 0.542 Kartagener_syndrome 33 254 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26881271 26881271 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:26881271C>G uc003jgs.1 - 12 2513 c.2344G>C c.(2344-2346)GGG>CGG p.G782R CDH9_uc011cnv.1_Missense_Mutation_p.G375R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 782 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCATCACCCCCATACATATCG 0.408 44 217 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937196 33937196 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:33937196C>A uc003jic.1 + 1 708 c.351C>A c.(349-351)ATC>ATA p.I117I NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 117 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 AGTCCTCTATCAACCTCTTCG 0.592 21 133 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38407059 38407059 + Missense_Mutation SNP A C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:38407059A>C uc003jlc.1 + 8 1282 c.958A>C c.(958-960)ACG>CCG p.T320P EGFLAM_uc003jlb.1_Missense_Mutation_p.T320P|EGFLAM_uc003jle.1_Missense_Mutation_p.T86P|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 320 cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CCCTGTGACCACGGTGGCTCC 0.478 13 199 --- --- --- --- PASS ZNF131 7690 broad.mit.edu 37 5 43139363 43139363 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:43139363C>T uc011cpw.1 + 4 359 c.323C>T c.(322-324)GCA>GTA p.A108V ZNF131_uc010ivl.1_Missense_Mutation_p.A108V|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.A108V|ZNF131_uc003jnn.3_Intron|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_RNA NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 108 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GTATGGAAAGCAGCAGAGTTT 0.358 31 145 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262584 45262584 + Nonsense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:45262584G>T uc003jok.2 - 8 2137 c.2112C>A c.(2110-2112)TGC>TGA p.C704* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 704 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAGGAGGGCTGCAGACCGCGG 0.567 14 33 --- --- --- --- PASS MAP3K1 4214 broad.mit.edu 37 5 56168787 56168787 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:56168787G>T uc003jqw.3 + 9 2142 c.1641G>T c.(1639-1641)CAG>CAT p.Q547H NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 547 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ATGGAACTCAGCAAATCCCTC 0.403 21 31 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101724397 101724397 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:101724397C>G uc003knn.2 - 12 2184 c.2012G>C c.(2011-2013)GGA>GCA p.G671A SLCO6A1_uc003kno.2_Missense_Mutation_p.G418A|SLCO6A1_uc003knp.2_Missense_Mutation_p.G671A|SLCO6A1_uc003knq.2_Missense_Mutation_p.G609A NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 671 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CTTACATATTCCTACCAATAA 0.269 21 41 --- --- --- --- PASS FAM170A 340069 broad.mit.edu 37 5 118970249 118970249 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:118970249G>T uc003ksm.2 + 3 1016 c.806G>T c.(805-807)GGC>GTC p.G269V FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.G269V|FAM170A_uc003kso.2_Missense_Mutation_p.G222V NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 269 intracellular zinc ion binding skin(1) 1 CAGCTGACAGGCAACATGGAA 0.343 83 89 --- --- --- --- PASS SNCAIP 9627 broad.mit.edu 37 5 121759012 121759012 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:121759012A>G uc003ksw.1 + 4 786 c.580A>G c.(580-582)ACA>GCA p.T194A SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.T194A|SNCAIP_uc003ksx.1_Missense_Mutation_p.T241A|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.T194A NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 194 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGCCTGCTCTACAGGAAGTTC 0.458 30 140 --- --- --- --- PASS MYOT 9499 broad.mit.edu 37 5 137206399 137206399 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:137206399G>T uc011cye.1 + 2 76 c.59G>T c.(58-60)AGA>ATA p.R20I MYOT_uc003lbv.2_Missense_Mutation_p.R20I|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 20 muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGTGGCTCCAGATTGCAGCCT 0.448 65 100 --- --- --- --- PASS PCDHGA9 56107 broad.mit.edu 37 5 140783125 140783125 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:140783125G>T uc003lkh.1 + 1 606 c.606G>T c.(604-606)AGG>AGT p.R202S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R202S NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 202 Extracellular (Potential).|Cadherin 2. 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) CCCTGGACAGGGAGGAGGCAA 0.622 7 10 --- --- --- --- PASS HDAC3 8841 broad.mit.edu 37 5 141005610 141005610 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:141005610C>A uc003llf.2 - 12 1015 c.949G>T c.(949-951)GAG>TAG p.E317* HDAC3_uc003lle.1_Nonsense_Mutation_p.E260* NM_003883 NP_003874 O15379 HDAC3_HUMAN histone deacetylase 3 317 anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) CTAATGGCCTCTTCTACCAGC 0.532 10 83 --- --- --- --- PASS HTR4 3360 broad.mit.edu 37 5 147902862 147902862 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:147902862G>T uc003lpn.2 - 5 565 c.401C>A c.(400-402)ACC>AAC p.T134N HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.T134N|HTR4_uc003lpj.1_Missense_Mutation_p.T134N|HTR4_uc003lpk.2_Missense_Mutation_p.T134N|HTR4_uc011dby.1_Missense_Mutation_p.T134N|HTR4_uc003lpl.2_Missense_Mutation_p.T134N|HTR4_uc003lpm.2_Missense_Mutation_p.T134N|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.T134N NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 134 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GCGCAGAGGGGTCATCTTGTT 0.498 19 30 --- --- --- --- PASS ITK 3702 broad.mit.edu 37 5 156607999 156607999 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:156607999T>C uc003lwo.1 + 1 93 c.11T>C c.(10-12)TTT>TCT p.F4S NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 4 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGAACAACTTTATCCTCCTG 0.443 T SYK peripheral T-cell lymphoma 31 48 --- --- --- --- PASS SCGN 10590 broad.mit.edu 37 6 25669792 25669792 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:25669792C>A uc003nfb.2 + 5 593 c.390C>A c.(388-390)CTC>CTA p.L130L SCGN_uc010jpz.2_Missense_Mutation_p.S40Y NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 130 EF-hand 3. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 CTGCTGAGCTCCGCGTGAGTG 0.413 23 101 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25778227 25778227 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:25778227G>A uc003nfe.2 + 11 1461 c.1342G>A c.(1342-1344)GGA>AGA p.G448R SLC17A4_uc011djx.1_Missense_Mutation_p.G218R|SLC17A4_uc003nfg.2_Missense_Mutation_p.G385R|SLC17A4_uc010jqa.2_Nonsense_Mutation_p.W67* NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 448 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TACTGCTGCTGGATTTTTCAT 0.418 18 86 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25778228 25778228 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:25778228G>T uc003nfe.2 + 11 1462 c.1343G>T c.(1342-1344)GGA>GTA p.G448V SLC17A4_uc011djx.1_Missense_Mutation_p.G218V|SLC17A4_uc003nfg.2_Missense_Mutation_p.G385V|SLC17A4_uc010jqa.2_Missense_Mutation_p.W67C NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 448 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 ACTGCTGCTGGATTTTTCATC 0.418 18 86 --- --- --- --- PASS TRIM38 10475 broad.mit.edu 37 6 25983845 25983845 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:25983845C>G uc003nfm.2 + 8 1763 c.1328C>G c.(1327-1329)TCT>TGT p.S443C TRIM38_uc003nfn.2_Missense_Mutation_p.S425C|TRIM38_uc010jqd.2_Missense_Mutation_p.S79C NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 443 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 GCTTCCTTCTCTGATACTCTC 0.463 32 65 --- --- --- --- PASS HFE 3077 broad.mit.edu 37 6 26093020 26093020 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:26093020G>T uc003nfx.1 + 4 884 c.724G>T c.(724-726)GAT>TAT p.D242Y HFE_uc003nfy.1_Missense_Mutation_p.D219Y|HFE_uc010jqe.1_Missense_Mutation_p.D239Y|HFE_uc003nfz.1_Missense_Mutation_p.D154Y|HFE_uc003ngd.1_Missense_Mutation_p.D140Y|HFE_uc003nga.1_Missense_Mutation_p.D228Y|HFE_uc003ngb.1_Missense_Mutation_p.D136Y|HFE_uc003ngc.1_Missense_Mutation_p.D150Y|HFE_uc003nge.1_Missense_Mutation_p.D62Y|HFE_uc003ngf.1_Intron NM_000410 NP_000401 Q30201 HFE_HUMAN hemochromatosis protein isoform 1 precursor 242 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding 0 GTGGCTGAAGGATAAGCAGCC 0.527 Hemochromatosis 25 59 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28542454 28542454 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:28542454C>A uc003nlo.2 - 3 2646 c.2028G>T c.(2026-2028)GGG>GGT p.G676G NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 676 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 AAAATGGTGTCCCTGATGGCT 0.408 79 173 --- --- --- --- PASS ZFP57 346171 broad.mit.edu 37 6 29640952 29640952 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:29640952C>T uc011dlw.1 - 4 1087 c.936G>A c.(934-936)CAG>CAA p.Q312Q ZFP57_uc003nnl.3_Silent_p.Q292Q NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 228 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 GGATGGACCTCTGGCTTCTGG 0.542 23 151 --- --- --- --- PASS TRIM39 56658 broad.mit.edu 37 6 30309598 30309598 + Silent SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:30309598A>T uc010jrz.2 + 9 1431 c.1119A>T c.(1117-1119)CCA>CCT p.P373P TRIM39_uc003npz.2_Silent_p.P343P|TRIM39_uc003nqb.2_Silent_p.P343P|TRIM39_uc003nqc.2_Silent_p.P343P|TRIM39_uc010jsa.1_Silent_p.P343P NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 373 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 CTGACACACCAAGGCGTTTCA 0.577 18 29 --- --- --- --- PASS HLA-DOA 3111 broad.mit.edu 37 6 32975108 32975108 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:32975108G>T uc003ocr.2 - 3 669 c.593C>A c.(592-594)GCG>GAG p.A198E HLA-DOA_uc010juj.2_Missense_Mutation_p.A168E|HLA-DOA_uc010jui.2_Missense_Mutation_p.A198E NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 198 Extracellular (Potential).|Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 GAGGAGTGGCGCATCCAGGCC 0.592 52 97 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33135240 33135240 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:33135240G>T uc003ocx.1 - 56 4313 c.4085C>A c.(4084-4086)CCT>CAT p.P1362H COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1276H|COL11A2_uc003ocz.1_Missense_Mutation_p.P1255H NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1362 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 ATCAGGGCCAGGTTTCCCTGC 0.647 13 42 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38818172 38818172 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:38818172G>A uc003ooe.1 + 36 5294 c.4694G>A c.(4693-4695)TGT>TAT p.C1565Y NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTGGAAGTATGTCAGAAGTCA 0.363 14 89 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43400087 43400087 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:43400087A>G uc003ouy.1 + 3 584 c.369A>G c.(367-369)GCA>GCG p.A123A ABCC10_uc003ouz.1_Silent_p.A80A NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 123 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGGTGTTGGCACATTCCCCTC 0.662 11 45 --- --- --- --- PASS MUT 4594 broad.mit.edu 37 6 49403260 49403260 + Missense_Mutation SNP T C C rs147094927 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:49403260T>C uc003ozg.3 - 12 2288 c.2033A>G c.(2032-2034)CAT>CGT p.H678R NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 678 B12-binding. H -> R (in MMAM; mut-). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TAGGGTTTTATGACCAGCAGC 0.483 11 53 --- --- --- --- PASS CRISP1 167 broad.mit.edu 37 6 49806193 49806193 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:49806193G>A uc003ozw.2 - 7 658 c.579C>T c.(577-579)GTC>GTT p.V193V CRISP1_uc003ozx.2_Intron NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 193 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) CTTCACATGGGACGCCTGTCT 0.363 59 104 --- --- --- --- PASS GSTA5 221357 broad.mit.edu 37 6 52701091 52701091 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:52701091A>G uc003pba.1 - 4 285 c.215T>C c.(214-216)CTT>CCT p.L72P NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 72 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) AATGTAGTTAAGAATGGCTCT 0.428 99 154 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55216328 55216328 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:55216328A>G uc003pcm.1 + 5 734 c.648A>G c.(646-648)CCA>CCG p.P216P NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 216 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACATGGTTCCACCCCCTACTT 0.438 11 69 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76712684 76712684 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:76712684A>G uc003pik.1 - 12 1372 c.1242T>C c.(1240-1242)CCT>CCC p.P414P NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 414 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GGGGTTCAACAGGAGGAAGTT 0.438 12 36 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112508764 112508764 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:112508764C>T uc003pvu.2 - 8 1163 c.854G>A c.(853-855)CGG>CAG p.R285Q LAMA4_uc003pvv.2_Missense_Mutation_p.R278Q|LAMA4_uc003pvt.2_Missense_Mutation_p.R278Q NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 285 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CGCTGCTAACCGCAGTGCATC 0.537 6 35 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117237460 117237460 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:117237460G>T uc003pxm.2 + 9 1018 c.955G>T c.(955-957)GAC>TAC p.D319Y NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 319 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 CTGTGTTTGTGACTCAATTCT 0.348 52 97 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117710802 117710802 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:117710802G>A uc003pxp.1 - 12 1669 c.1470C>T c.(1468-1470)ATC>ATT p.I490I ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 490 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGCGAGGTAGGATGAGATGGG 0.433 T GOPC|ROS1 glioblastoma|NSCLC 5 58 --- --- --- --- PASS MAN1A1 4121 broad.mit.edu 37 6 119669750 119669750 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:119669750G>T uc003pym.1 - 2 923 c.481C>A c.(481-483)CAG>AAG p.Q161K MAN1A1_uc010kei.1_Missense_Mutation_p.Q161K NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 161 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TCACGCAGCTGGTCCTGGGCC 0.667 34 81 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128176332 128176332 + Silent SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:128176332G>C uc003qbi.2 - 3 412 c.93C>G c.(91-93)GGC>GGG p.G31G THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Silent_p.G31G|THEMIS_uc010kfb.2_5'UTR NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 31 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CATAAATAGAGCCTAAAAGGA 0.284 21 33 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129777610 129777610 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:129777610T>C uc003qbn.2 + 47 6943 c.6838T>C c.(6838-6840)TTT>CTT p.F2280L LAMA2_uc003qbo.2_Missense_Mutation_p.F2280L NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2280 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGCAATGCTGTTTGTTGGTGG 0.463 103 179 --- --- --- --- PASS TAAR9 134860 broad.mit.edu 37 6 132859838 132859838 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:132859838C>T uc011eci.1 + 2 412 c.410C>T c.(409-411)CCT>CTT p.P137L NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 137 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GTTACTGATCCTCTGACCTAT 0.363 35 58 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138655785 138655785 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:138655785C>T uc003qhu.2 + 33 5802 c.5802C>T c.(5800-5802)GGC>GGT p.G1934G NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1934 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) TCTTCAAGGGCGACCCGTTCT 0.562 4 46 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155504519 155504519 + Silent SNP A C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:155504519A>C uc003qqb.2 + 16 4222 c.2949A>C c.(2947-2949)ACA>ACC p.T983T TIAM2_uc003qqe.2_Silent_p.T983T|TIAM2_uc010kjj.2_Silent_p.T516T|TIAM2_uc003qqf.2_Silent_p.T359T|TIAM2_uc011efl.1_Silent_p.T319T|TIAM2_uc003qqg.2_Silent_p.T295T NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 983 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCCTGTGTACATCCTGGTCAG 0.527 35 67 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165715433 165715433 + Silent SNP G T T rs34717417 byFrequency TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:165715433G>T uc003qum.3 - 2 414 c.378C>A c.(376-378)ACC>ACA p.T126T C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 126 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TGAACAGCGGGGTGTCCTGGG 0.622 16 125 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169641892 169641892 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr6:169641892G>A uc003qwt.2 - 6 1104 c.856C>T c.(856-858)CTC>TTC p.L286F NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 286 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TGGTTCACGAGGACGTGGAGC 0.672 29 77 --- --- --- --- PASS ZFAND2A 90637 broad.mit.edu 37 7 1195151 1195151 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:1195151C>G uc003skc.2 - 4 521 c.220G>C c.(220-222)GTG>CTG p.V74L ZFAND2A_uc003skd.3_Missense_Mutation_p.V74L NM_182491 NP_872297 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 74 cytoplasm|nucleus zinc ion binding ovary(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) CCAACCACCACGTCTGGTATC 0.483 52 91 --- --- --- --- PASS CRHR2 1395 broad.mit.edu 37 7 30706895 30706895 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:30706895C>G uc003tbn.2 - 3 508 c.264G>C c.(262-264)ACG>ACC p.T88T CRHR2_uc010kvw.1_Silent_p.T88T|CRHR2_uc010kvx.1_Silent_p.T88T|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Silent_p.T74T|CRHR2_uc003tbp.2_Silent_p.T115T NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 88 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 TTGAGGCCCACGTCCCATTCT 0.537 36 84 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31618018 31618018 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:31618018C>A uc003tcj.1 + 8 2133 c.1140C>A c.(1138-1140)GGC>GGA p.G380G CCDC129_uc011kad.1_Silent_p.G390G|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.G406G|CCDC129_uc003tck.1_Silent_p.G288G NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 380 0 ATCTTGCAGGCAAAGGACCAG 0.483 14 35 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31682532 31682532 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:31682532G>T uc003tcj.1 + 11 2541 c.1548G>T c.(1546-1548)GAG>GAT p.E516D CCDC129_uc011kad.1_Missense_Mutation_p.E526D|CCDC129_uc003tci.1_Missense_Mutation_p.E367D|CCDC129_uc011kae.1_Missense_Mutation_p.E542D|CCDC129_uc003tck.1_Missense_Mutation_p.E424D NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 516 0 GGCCACCAGAGCTGTATATCC 0.542 6 126 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31683037 31683037 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:31683037G>A uc003tcj.1 + 11 3046 c.2053G>A c.(2053-2055)GGT>AGT p.G685S CCDC129_uc011kad.1_Missense_Mutation_p.G695S|CCDC129_uc003tci.1_Missense_Mutation_p.G536S|CCDC129_uc011kae.1_Missense_Mutation_p.G711S|CCDC129_uc003tck.1_Missense_Mutation_p.G593S NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 685 0 TGGTACTTTGGGTCAGATACT 0.498 27 50 --- --- --- --- PASS KBTBD2 25948 broad.mit.edu 37 7 32909082 32909082 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:32909082C>A uc003tdb.2 - 4 2406 c.1747G>T c.(1747-1749)GTG>TTG p.V583L AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 583 0 GBM - Glioblastoma multiforme(11;0.0499) AGTTTCCCCACAGTGCATCGA 0.483 26 110 --- --- --- --- PASS DPY19L1 23333 broad.mit.edu 37 7 35009140 35009140 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:35009140T>C uc003tem.3 - 9 845 c.700A>G c.(700-702)ACA>GCA p.T234A NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 234 integral to membrane 0 TAAAGTTTTGTAGCCCTTGAA 0.353 24 22 --- --- --- --- PASS PGAM2 5224 broad.mit.edu 37 7 44104495 44104495 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:44104495G>A uc003tjs.2 - 2 566 c.531C>T c.(529-531)GCC>GCT p.A177A NM_000290 NP_000281 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 177 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity 0 CTCGCTTGCCGGCCTTGATCT 0.647 12 22 --- --- --- --- PASS MYO1G 64005 broad.mit.edu 37 7 45004657 45004657 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:45004657G>A uc003tmh.2 - 18 2557 c.2413C>T c.(2413-2415)CCC>TCC p.P805S MYO1G_uc003tmf.2_Missense_Mutation_p.P248S|MYO1G_uc003tmg.2_Missense_Mutation_p.P567S|MYO1G_uc010kym.2_Missense_Mutation_p.P690S NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 805 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 TCTGAAGGGGGGATGTTCTTC 0.662 26 82 --- --- --- --- PASS CCM2 83605 broad.mit.edu 37 7 45113071 45113071 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:45113071A>G uc003tmo.2 + 8 962 c.816A>G c.(814-816)GAA>GAG p.E272E CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.E214E|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.E181E|CCM2_uc003tms.2_Silent_p.E293E NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 272 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 GCTTCCCTGAATCTGTGGATG 0.587 Familial_Cerebral_Cavernous_Angioma 5 37 --- --- --- --- PASS IKZF1 10320 broad.mit.edu 37 7 50467916 50467916 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:50467916C>A uc003tow.3 + 9 1319 c.1151C>A c.(1150-1152)TCG>TAG p.S384* IKZF1_uc003tox.3_Nonsense_Mutation_p.S342*|IKZF1_uc003toy.3_Nonsense_Mutation_p.S342*|IKZF1_uc011kck.1_Nonsense_Mutation_p.S297*|IKZF1_uc003toz.3_Nonsense_Mutation_p.S354*|IKZF1_uc010kyx.2_Nonsense_Mutation_p.S124*|IKZF1_uc003tpa.3_Nonsense_Mutation_p.S126* NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 384 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TTGGTGCCCTCGGAGCGCGAG 0.667 D ALL 6 5 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66703398 66703398 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:66703398A>G uc003tvn.2 + 16 2230 c.2081A>G c.(2080-2082)AAG>AGG p.K694R TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.K308R|PMS2L4_uc003tvo.2_Intron NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 694 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) TTCAGCGCAAAGGATTATATG 0.438 22 61 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86394893 86394893 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:86394893G>T uc003uid.2 + 2 1531 c.432G>T c.(430-432)GGG>GGT p.G144G GRM3_uc010lef.2_Silent_p.G142G|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 144 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCATTGCAGGGGTCATTGGTG 0.423 13 103 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87069537 87069537 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:87069537T>A uc003uiv.1 - 13 1614 c.1538A>T c.(1537-1539)GAG>GTG p.E513V ABCB4_uc003uiw.1_Missense_Mutation_p.E513V|ABCB4_uc003uix.1_Missense_Mutation_p.E513V NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 513 ABC transporter 1.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CATGATAAACTCATAGGCGTT 0.373 35 88 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100682917 100682917 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:100682917C>T uc003uxp.1 + 3 8273 c.8220C>T c.(8218-8220)AGC>AGT p.S2740S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2740 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AAGGTACCAGCATGCGAATCT 0.498 87 244 --- --- --- --- PASS ARF5 381 broad.mit.edu 37 7 127231092 127231092 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:127231092G>T uc003vmb.1 + 5 442 c.406G>T c.(406-408)GTG>TTG p.V136L FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 136 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 CGCCATGCCCGTGAGCGAGCT 0.612 62 251 --- --- --- --- PASS FAM131B 9715 broad.mit.edu 37 7 143053859 143053859 + Silent SNP C A A rs144329877 by1000genomes TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:143053859C>A uc003wct.2 - 6 2489 c.783G>T c.(781-783)CCG>CCT p.P261P FAM131B_uc010loz.2_Silent_p.P229P|FAM131B_uc003wcu.3_Silent_p.P261P|FAM131B_uc010lpa.2_Silent_p.P289P NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 261 0 Melanoma(164;0.205) CGCCTACCCCCGGAGCCCAGT 0.622 143 123 --- --- --- --- PASS NOBOX 135935 broad.mit.edu 37 7 144098589 144098589 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:144098589G>T uc011kue.1 - 4 394 c.394C>A c.(394-396)CCA>ACA p.P132T NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 132 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) CAGGAGGGTGGCAGTTCCTCA 0.657 18 77 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146818117 146818117 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:146818117A>G uc003weu.1 + 6 1317 c.801A>G c.(799-801)ACA>ACG p.T267T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 267 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGTGATGACAGGAAGTTTGC 0.517 HNSCC(39;0.1) 72 72 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147844663 147844663 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:147844663G>A uc003weu.1 + 17 3151 c.2635G>A c.(2635-2637)GAT>AAT p.D879N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 879 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCCTCTCAACGATGACCAGTG 0.562 HNSCC(39;0.1) 106 123 --- --- --- --- PASS GIMAP1 170575 broad.mit.edu 37 7 150417936 150417936 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:150417936C>T uc003whq.2 + 3 931 c.844C>T c.(844-846)CTG>TTG p.L282L GIMAP1_uc003whp.2_Silent_p.L290L NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 282 Helical; Anchor for type IV membrane protein; (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCCCTGCTGCTGGGGGGCGC 0.697 4 23 --- --- --- --- PASS TMEM176A 55365 broad.mit.edu 37 7 150499388 150499388 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:150499388G>T uc003whx.1 + 3 338 c.260G>T c.(259-261)GGA>GTA p.G87V TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN hepatocellular carcinoma-associated antigen 112 87 Helical; (Potential). integral to membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCACCTCGGGAGCTGCCATC 0.562 41 48 --- --- --- --- PASS MIR595 693180 broad.mit.edu 37 7 158325457 158325457 + RNA SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:158325457T>C hsa-mir-595|MI0003607 - c.49T>C PTPRN2_uc003wno.2_Intron|PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron 0 ACCTGTTCCTTACAAGACTAC 0.507 62 195 --- --- --- --- PASS C8orf79 57604 broad.mit.edu 37 8 12879025 12879025 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:12879025T>C uc010lsq.2 + 5 1329 c.837T>C c.(835-837)AGT>AGC p.S279S C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.S192S|C8orf79_uc010lsr.2_Silent_p.S153S NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 279 methyltransferase activity 0 TTTGGGCCAGTAGCACTGTAA 0.423 27 45 --- --- --- --- PASS STC1 6781 broad.mit.edu 37 8 23709836 23709836 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:23709836C>A uc003xdw.1 - 2 464 c.180G>T c.(178-180)CTG>CTT p.L60L NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 60 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TGGAGTTTTCCAGGCATGCAA 0.478 45 61 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24342837 24342837 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:24342837G>C uc003xeb.2 + 10 1036 c.923G>C c.(922-924)GGT>GCT p.G308A ADAM7_uc003xec.2_Missense_Mutation_p.G80A NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 308 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TATCCAGGGGGTATGTGCCTG 0.353 51 92 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30705226 30705226 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:30705226G>A uc003xil.2 - 1 1308 c.1308C>T c.(1306-1308)AAC>AAT p.N436N NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 436 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCTCTGAATGTTCTCTAATG 0.348 57 129 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 31024623 31024623 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:31024623A>G uc003xio.3 + 34 4856 c.4068A>G c.(4066-4068)AAA>AAG p.K1356K WRN_uc010lvk.2_Silent_p.K823K NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1356 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AGATCCTTAAACATGGTCCTG 0.388 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 20 29 --- --- --- --- PASS KCNU1 157855 broad.mit.edu 37 8 36698064 36698064 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:36698064T>C uc010lvw.2 + 15 1689 c.1602T>C c.(1600-1602)TTT>TTC p.F534F KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 534 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CTGATGACTTTGCTGGAATGA 0.343 14 19 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41834527 41834527 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:41834527T>A uc010lxb.2 - 8 1906 c.1362A>T c.(1360-1362)ACA>ACT p.T454T MYST3_uc010lxc.2_Silent_p.T454T|MYST3_uc003xon.3_Silent_p.T454T|MYST3_uc010lxd.2_Silent_p.T454T NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 454 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) AACTCTTACCTGTGGGCCAAT 0.388 35 92 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53030927 53030927 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:53030927C>T uc003xqz.2 - 19 2986 c.2830G>A c.(2830-2832)GAA>AAA p.E944K ST18_uc011ldq.1_Missense_Mutation_p.E591K|ST18_uc011ldr.1_Missense_Mutation_p.E909K|ST18_uc011lds.1_Missense_Mutation_p.E849K|ST18_uc003xra.2_Missense_Mutation_p.E944K NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 944 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATATCTGCTTCAATTTTAAGG 0.308 29 45 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765162 77765162 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:77765162C>G uc003yav.2 + 10 6257 c.5870C>G c.(5869-5871)ACG>AGG p.T1957R ZFHX4_uc003yau.1_Missense_Mutation_p.T2002R|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1957R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1957 Pro-rich. 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) TCTCCAGAAACGccgcccccg 0.318 HNSCC(33;0.089) 5 8 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885555 88885555 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:88885555C>G uc003ydz.2 - 1 742 c.645G>C c.(643-645)ACG>ACC p.T215T NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 215 ovary(1) 1 GCTGGTGTCCCGTCACCACGT 0.542 54 132 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 93017503 93017503 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:93017503C>A uc003yfd.2 - 5 665 c.581G>T c.(580-582)CGT>CTT p.R194L RUNX1T1_uc003yfc.1_Missense_Mutation_p.R167L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R157L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R167L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R205L|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R157L|RUNX1T1_uc003yff.1_Missense_Mutation_p.R157L NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 194 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GAGGAGCTCACGCTGCAGCAG 0.547 26 55 --- --- --- --- PASS FZD6 8323 broad.mit.edu 37 8 104330981 104330981 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:104330981G>T uc003ylh.2 + 3 625 c.341G>T c.(340-342)GGG>GTG p.G114V FZD6_uc003yli.2_Missense_Mutation_p.G114V|FZD6_uc003ylj.2_Missense_Mutation_p.G114V|FZD6_uc011lhn.1_Missense_Mutation_p.G80V|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.G59V NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 114 FZ.|Extracellular (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GACACTTTTGGGATCCGATGG 0.378 5 124 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110457003 110457003 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:110457003G>T uc003yne.2 + 38 5009 c.4905G>T c.(4903-4905)TTG>TTT p.L1635F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1635 Extracellular (Potential).|IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGTCACTTTGACTGTCTACA 0.423 HNSCC(38;0.096) 133 257 --- --- --- --- PASS MED30 90390 broad.mit.edu 37 8 118533154 118533154 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:118533154C>T uc003yoj.2 + 1 190 c.39C>T c.(37-39)CCC>CCT p.P13P MED30_uc011lib.1_Silent_p.P13P NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 13 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) GGATGGCGCCCGGGCCCTTCG 0.716 8 14 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133142111 133142111 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:133142111C>A uc003ytj.2 - 15 2242 c.2017G>T c.(2017-2019)GAG>TAG p.E673* KCNQ3_uc010mdt.2_Nonsense_Mutation_p.E661* NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 673 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGTTGTCCTCCTTCTTCTCT 0.527 53 136 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139189639 139189639 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:139189639A>T uc003yuy.2 - 11 1225 c.1054T>A c.(1054-1056)TTT>ATT p.F352I FAM135B_uc003yux.2_Missense_Mutation_p.F253I|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 352 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCATGTAAAAGAAGGCCTCA 0.403 HNSCC(54;0.14) 18 41 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139674290 139674290 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:139674290C>A uc003yvd.2 - 43 3670 c.3223G>T c.(3223-3225)GGC>TGC p.G1075C COL22A1_uc011ljo.1_Missense_Mutation_p.G355C NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1075 Pro-rich.|Gly-rich.|Collagen-like 9. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCGGCTGGGCCCTGGGGGCCA 0.552 HNSCC(7;0.00092) 38 104 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144945978 144945978 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:144945978A>G uc003zaa.1 - 1 1457 c.1444T>C c.(1444-1446)TTC>CTC p.F482L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 482 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TACTTGATGAATGGGGGTCCC 0.677 12 35 --- --- --- --- PASS KANK1 23189 broad.mit.edu 37 9 745225 745225 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:745225C>T uc003zgl.1 + 16 4698 c.4049C>T c.(4048-4050)TCA>TTA p.S1350L KANK1_uc003zgn.1_Missense_Mutation_p.S1350L|KANK1_uc003zgs.1_Missense_Mutation_p.S1192L|KANK1_uc010mgx.1_Missense_Mutation_p.S328L|KANK1_uc010mgy.1_Missense_Mutation_p.S262L|KANK1_uc003zgt.1_3'UTR NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 1350 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CACCGAGGTTCATTTGATTGA 0.453 202 119 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8527345 8527345 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:8527345C>A uc003zkk.2 - 15 1261 c.550G>T c.(550-552)GGT>TGT p.G184C PTPRD_uc003zkp.2_Missense_Mutation_p.G184C|PTPRD_uc003zkq.2_Missense_Mutation_p.G184C|PTPRD_uc003zkr.2_Nonsense_Mutation_p.G184*|PTPRD_uc003zks.2_Nonsense_Mutation_p.G184*|PTPRD_uc003zkl.2_Missense_Mutation_p.G184C|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Missense_Mutation_p.G184C|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 184 Extracellular (Potential).|Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAGCACTTACCAATAGATTCT 0.289 TSP Lung(15;0.13) 11 101 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414001 20414001 + Silent SNP A C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:20414001A>C uc003zoe.2 - 5 1102 c.843T>G c.(841-843)CCT>CCG p.P281P MLLT3_uc011lne.1_Silent_p.P249P|MLLT3_uc011lnf.1_Silent_p.P278P|MLLT3_uc003zof.2_Silent_p.P82P NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) GCCTTTTACTAGGAGCCTTCT 0.418 T MLL ALL 205 186 --- --- --- --- PASS ELAVL2 1993 broad.mit.edu 37 9 23762131 23762131 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:23762131T>C uc003zpu.2 - 2 377 c.102A>G c.(100-102)ACA>ACG p.T34T ELAVL2_uc003zps.2_Silent_p.T34T|ELAVL2_uc003zpt.2_Silent_p.T34T|ELAVL2_uc003zpv.2_Silent_p.T34T|ELAVL2_uc003zpw.2_Silent_p.T34T NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 34 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGCTGTCTTCTGTGTTCCCAG 0.443 229 159 --- --- --- --- PASS ELAVL2 1993 broad.mit.edu 37 9 23762132 23762132 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:23762132G>T uc003zpu.2 - 2 376 c.101C>A c.(100-102)ACA>AAA p.T34K ELAVL2_uc003zps.2_Missense_Mutation_p.T34K|ELAVL2_uc003zpt.2_Missense_Mutation_p.T34K|ELAVL2_uc003zpv.2_Missense_Mutation_p.T34K|ELAVL2_uc003zpw.2_Missense_Mutation_p.T34K NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 34 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GCTGTCTTCTGTGTTCCCAGA 0.443 232 159 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90502802 90502802 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:90502802C>A uc004app.3 + 4 3435 c.3400C>A c.(3400-3402)CAC>AAC p.H1134N NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1134 integral to membrane ovary(3) 3 TCCAGGCCGCCACATGGACAT 0.652 18 64 --- --- --- --- PASS RGS3 5998 broad.mit.edu 37 9 116357881 116357881 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:116357881G>T uc004bhq.2 + 25 3456 c.3247G>T c.(3247-3249)GGG>TGG p.G1083W RGS3_uc004bhs.2_Missense_Mutation_p.G973W|RGS3_uc004bht.2_Missense_Mutation_p.G802W|RGS3_uc010muy.2_Missense_Mutation_p.G476W|RGS3_uc004bhv.2_Missense_Mutation_p.G404W|RGS3_uc004bhw.2_Missense_Mutation_p.G53W|RGS3_uc011lxh.1_Missense_Mutation_p.G393W|RGS3_uc004bhx.2_Missense_Mutation_p.G404W|RGS3_uc004bhz.2_Missense_Mutation_p.G425W|RGS3_uc004bia.2_Missense_Mutation_p.G196W NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 1083 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CCTCACAGACGGGTTAGCAGT 0.522 53 45 --- --- --- --- PASS COL27A1 85301 broad.mit.edu 37 9 117051248 117051248 + Splice_Site SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:117051248G>A uc011lxl.1 + 44 4152 c.4152_splice c.e44+1 p.P1384_splice COL27A1_uc004bii.2_Splice_Site NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GGGCCAACCCGTGAGTGGTGC 0.617 23 54 --- --- --- --- PASS ORM1 5004 broad.mit.edu 37 9 117094113 117094113 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:117094113G>T uc011lxo.1 + 5 555 c.444G>T c.(442-444)AAG>AAT p.K148N ORM2_uc004bil.2_Missense_Mutation_p.K148N NM_000607 NP_000598 P02763 A1AG1_HUMAN orosomucoid 1 precursor 148 acute-phase response|regulation of immune system process|transport extracellular space protein binding 0 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) CAGCTGACAAGCCAGAGACGA 0.612 15 44 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117793909 117793909 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:117793909G>T uc004bjj.3 - 23 6205 c.5843C>A c.(5842-5844)TCC>TAC p.S1948Y TNC_uc010mvf.2_Missense_Mutation_p.S1675Y NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1948 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GTAGTGGGTGGATGGGCTCAG 0.512 99 67 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 122004458 122004458 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:122004458C>A uc004bkc.2 - 4 902 c.446G>T c.(445-447)CGC>CTC p.R149L DBC1_uc004bkd.2_Missense_Mutation_p.R149L NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 149 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CCTGTCGAGGCGACTTTTGTC 0.493 35 38 --- --- --- --- PASS MRPL41 64975 broad.mit.edu 37 9 140446840 140446840 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr9:140446840G>T uc004cnh.3 + 2 437 c.307G>T c.(307-309)GAC>TAC p.D103Y PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 103 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CATCGAAAAGGACTTCAAGGA 0.612 31 21 --- --- --- --- PASS ITIH2 3698 broad.mit.edu 37 10 7762836 7762836 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:7762836C>G uc001ijs.2 + 7 810 c.648C>G c.(646-648)ATC>ATG p.I216M NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 216 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 TGTGGGTTATCGAACCACAGG 0.393 31 56 --- --- --- --- PASS USP6NL 9712 broad.mit.edu 37 10 11505306 11505306 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:11505306C>A uc001ikt.3 - 15 1942 c.1621G>T c.(1621-1623)GAC>TAC p.D541Y USP6NL_uc001iks.1_Missense_Mutation_p.D558Y NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 541 intracellular Rab GTPase activator activity 0 CGCTTCCCGTCCTCAGCATCC 0.667 35 73 --- --- --- --- PASS ZNF239 8187 broad.mit.edu 37 10 44053146 44053146 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:44053146C>A uc001jaw.3 - 2 1035 c.382G>T c.(382-384)GCC>TCC p.A128S ZNF239_uc001jax.3_Missense_Mutation_p.A128S|ZNF239_uc009xmj.2_Missense_Mutation_p.A128S|ZNF239_uc009xmk.2_Missense_Mutation_p.A128S NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 AATGGCGAGGCCAGTTCTTGT 0.418 52 84 --- --- --- --- PASS GPRIN2 9721 broad.mit.edu 37 10 46999982 46999982 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:46999982C>G uc001jec.2 + 3 1237 c.1102C>G c.(1102-1104)CTG>GTG p.L368V GPRIN2_uc010qfq.1_Missense_Mutation_p.L131V NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 368 0 AGAGGTAACTCTGGGGTCCAG 0.667 23 46 --- --- --- --- PASS DUPD1 338599 broad.mit.edu 37 10 76797658 76797658 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:76797658A>T uc001jwq.1 - 3 599 c.599T>A c.(598-600)CTG>CAG p.L200Q NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 200 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTGCTGCACCAGCTGCTTGTC 0.657 43 47 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87489309 87489309 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:87489309G>A uc001kdl.1 - 9 1397 c.1296C>T c.(1294-1296)AGC>AGT p.S432S GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.S3S NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 432 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CTTGGAGGCGGCTGCCCATGG 0.517 Multiple Myeloma(13;0.14) 3 42 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118434309 118434309 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:118434309C>T uc001lct.2 - 12 2116 c.2011G>A c.(2011-2013)GAC>AAC p.D671N HSPA12A_uc001lcu.2_Missense_Mutation_p.D588N NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 671 ATP binding ovary(1) 1 all cancers(201;0.0158) TTTAAGAAGTCGATCCCAACT 0.522 28 43 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124358454 124358454 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:124358454T>A uc001lgk.1 + 26 3227 c.3121T>A c.(3121-3123)TCA>ACA p.S1041T DMBT1_uc001lgl.1_Missense_Mutation_p.S1031T|DMBT1_uc001lgm.1_Missense_Mutation_p.S542T|DMBT1_uc009xzz.1_Missense_Mutation_p.S1041T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S2T NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1041 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTGGGCCATGTCAGCCCCAGG 0.607 93 139 --- --- --- --- PASS IKZF5 64376 broad.mit.edu 37 10 124754084 124754084 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:124754084T>C uc001lha.2 - 5 771 c.472A>G c.(472-474)AGG>GGG p.R158G IKZF5_uc001lgz.2_5'UTR NM_022466 NP_071911 Q9H5V7 IKZF5_HUMAN zinc finger protein, subfamily 1A, 5 158 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TGCTTGCGCCTTCGATGATGG 0.423 46 52 --- --- --- --- PASS FAM53B 9679 broad.mit.edu 37 10 126370538 126370538 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:126370538C>A uc001lhv.1 - 4 1067 c.544G>T c.(544-546)GAC>TAC p.D182Y FAM53B_uc001lhu.1_Missense_Mutation_p.D182Y|FAM53B_uc001lhw.2_Missense_Mutation_p.D182Y NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 182 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) CCTGCCTGGTCGCAGGGTGAG 0.662 25 33 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6655498 6655498 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:6655498G>T uc001mem.1 - 3 2247 c.1837C>A c.(1837-1839)CTC>ATC p.L613I NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 613 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATAGGAGAGGAGGCCAAAT 0.602 18 81 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898035 6898035 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:6898035G>T uc010rat.1 + 1 157 c.157G>T c.(157-159)GAC>TAC p.D53Y NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACTATAGCTGACTCTGCACT 0.458 77 173 --- --- --- --- PASS INSC 387755 broad.mit.edu 37 11 15197542 15197542 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:15197542C>T uc001mly.2 + 3 499 c.453C>T c.(451-453)CAC>CAT p.H151H INSC_uc001mlz.2_Silent_p.H104H|INSC_uc001mma.2_Silent_p.H104H|INSC_uc010rcs.1_Silent_p.H104H|INSC_uc001mmb.2_Silent_p.H104H|INSC_uc001mmc.2_Silent_p.H104H NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 151 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CACGGGTGCACAGCATGAGCG 0.632 10 5 --- --- --- --- PASS MYOD1 4654 broad.mit.edu 37 11 17742502 17742502 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:17742502C>T uc001mni.2 + 2 904 c.684C>T c.(682-684)GGC>GGT p.G228G NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 228 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 GCTACGAAGGCGCCTACTACA 0.537 8 10 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20070399 20070399 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:20070399G>C uc010rdm.1 + 16 4458 c.4097G>C c.(4096-4098)GGC>GCC p.G1366A NAV2_uc001mpp.2_Missense_Mutation_p.G1279A|NAV2_uc001mpr.3_Missense_Mutation_p.G1343A|NAV2_uc001mpt.2_Missense_Mutation_p.G429A|NAV2_uc009yhx.2_Missense_Mutation_p.G429A|NAV2_uc009yhy.1_Missense_Mutation_p.G342A|NAV2_uc009yhz.2_Missense_Mutation_p.G25A NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1366 Ser-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TCCCCGTCAGGCAGTGGCGTC 0.567 34 100 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22283735 22283735 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:22283735A>G uc001mqi.2 + 16 2008 c.1691A>G c.(1690-1692)CAG>CGG p.Q564R ANO5_uc001mqj.2_Missense_Mutation_p.Q563R NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 564 Helical; (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTCCTGTTTCAGTTTGTAAAT 0.333 33 139 --- --- --- --- PASS GAS2 2620 broad.mit.edu 37 11 22770670 22770670 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:22770670G>C uc009yie.2 + 6 784 c.478G>C c.(478-480)GGT>CGT p.G160R GAS2_uc001mqm.2_Missense_Mutation_p.G160R|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.G160R NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 160 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TTAAAGGTATGGTGTGGAGCC 0.383 24 57 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30925176 30925176 + RNA SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:30925176A>G uc001mss.1 - 10 c.1466T>C uc009yjk.1_Missense_Mutation_p.Y903H|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. TCTTTGGTATATACTTTGGAG 0.443 8 18 --- --- --- --- PASS MAPK8IP1 9479 broad.mit.edu 37 11 45923535 45923535 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:45923535C>A uc001nbr.2 + 4 697 c.527C>A c.(526-528)ACA>AAA p.T176K NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 176 JNK-binding domain (JBD).|Minimal inhibitory domain (MID). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) GCACAGGACACACTGAATAAT 0.572 54 264 --- --- --- --- PASS CELF1 10658 broad.mit.edu 37 11 47496998 47496998 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:47496998G>C uc001nfl.2 - 10 1089 c.1079C>G c.(1078-1080)ACT>AGT p.T360S CELF1_uc001nfm.2_Missense_Mutation_p.T357S|CELF1_uc001nfn.2_Missense_Mutation_p.T356S|CELF1_uc001nfo.1_Missense_Mutation_p.T386S|CELF1_uc010rhm.1_Missense_Mutation_p.T359S|CELF1_uc001nfp.2_Missense_Mutation_p.T388S|CELF1_uc001nfq.1_Missense_Mutation_p.T360S|CELF1_uc001nfr.1_Missense_Mutation_p.T360S NM_001025596 NP_001020767 Q92879 CELF1_HUMAN CUG triplet repeat, RNA-binding protein 1 360 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|ovary(1) 3 GTAGGCCTGAGTGAGGGCCTC 0.552 27 110 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595083 55595083 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:55595083T>C uc001nhy.1 + 1 389 c.389T>C c.(388-390)CTG>CCG p.L130P NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TGTAACCCCCTGCTGTACATG 0.527 HNSCC(27;0.073) 76 162 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606825 55606825 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:55606825C>T uc010rio.1 + 1 598 c.598C>T c.(598-600)CTT>TTT p.L200F NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) CAGCCAGTTGCTTCTTTTCAC 0.388 41 72 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681359 55681359 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:55681359T>C uc010rir.1 - 1 700 c.700A>G c.(700-702)AGG>GGG p.R234G NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTTTGAACCTCCCCTCAGCA 0.418 24 58 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890198 55890198 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:55890198C>T uc001nii.1 + 1 350 c.350C>T c.(349-351)TCA>TTA p.S117L NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CTTCTCTCCTCAATGGCCTAT 0.473 133 243 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020497 56020497 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:56020497C>A uc010rjd.1 + 1 822 c.822C>A c.(820-822)CAC>CAA p.H274Q NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 274 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) GTGGCTCTCACCTAACTGGAG 0.408 41 192 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56058198 56058198 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:56058198A>T uc010rje.1 - 1 341 c.341T>A c.(340-342)CTC>CAC p.L114H NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 114 Helical; Name=3; (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) CATTGATGAGAGAAGAAAACA 0.458 37 185 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258324 56258324 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:56258324G>C uc001nix.1 - 1 523 c.523C>G c.(523-525)CAC>GAC p.H175D NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CAGTAGAAGTGATTAATTTCA 0.488 41 75 --- --- --- --- PASS OR5B3 441608 broad.mit.edu 37 11 58170159 58170159 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:58170159G>T uc010rkf.1 - 1 724 c.724C>A c.(724-726)CAT>AAT p.H242N NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCAATGAAATGAGAGGCACAG 0.433 27 42 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64453274 64453274 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:64453274C>G uc001oar.2 - 7 1435 c.996G>C c.(994-996)AAG>AAC p.K332N NRXN2_uc001oas.2_Missense_Mutation_p.K308N|NRXN2_uc001oaq.2_Missense_Mutation_p.K6N NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 AGTCGGCCGACTTGCCTGTAT 0.592 38 98 --- --- --- --- PASS PDE2A 5138 broad.mit.edu 37 11 72290644 72290644 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:72290644G>A uc010rrc.1 - 26 2433 c.2190C>T c.(2188-2190)CAC>CAT p.H730H PDE2A_uc001oso.2_Silent_p.H709H|PDE2A_uc010rra.1_Silent_p.H723H|PDE2A_uc001osn.2_Silent_p.H474H|PDE2A_uc010rrb.1_Silent_p.H721H|PDE2A_uc010rrd.1_Silent_p.H615H NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 730 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCTGAGCAAAGTGGTGCCTCT 0.502 6 11 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73789655 73789655 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:73789655T>C uc001ouu.2 - 23 4335 c.4108A>G c.(4108-4110)ACG>GCG p.T1370A C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1370 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CCACGATGCGTGAAGGAAATC 0.507 23 91 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780906 88780906 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:88780906G>T uc001pcq.2 - 1 335 c.135C>A c.(133-135)CAC>CAA p.H45Q GRM5_uc009yvm.2_Missense_Mutation_p.H45Q|GRM5_uc009yvn.1_Missense_Mutation_p.H45Q NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 45 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CAGTAGGCTGGTGATGAACAG 0.527 11 48 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100211382 100211382 + Splice_Site SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:100211382G>A uc001pga.2 + 22 3256 c.2917_splice c.e22+1 p.P973_splice CNTN5_uc001pgb.2_Splice_Site_p.P899_splice|CNTN5_uc010ruk.1_Splice_Site_p.P244_splice NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAGAAATCCCGTAAGTGACCT 0.443 14 19 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100909920 100909920 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:100909920G>A uc001pgh.2 - 8 3472 c.2729C>T c.(2728-2730)TCT>TTT p.S910F PGR_uc001pgg.2_Missense_Mutation_p.S291F|PGR_uc001pgi.2_Missense_Mutation_p.S808F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 910 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AATAACTTCAGACATCATTTC 0.368 10 81 --- --- --- --- PASS SIDT2 51092 broad.mit.edu 37 11 117050006 117050006 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:117050006G>C uc001pqh.1 + 1 68 c.27G>C c.(25-27)TTG>TTC p.L9F SIDT2_uc010rxe.1_Missense_Mutation_p.L9F|SIDT2_uc001pqg.2_Missense_Mutation_p.L9F|SIDT2_uc001pqi.1_Missense_Mutation_p.L9F NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 9 integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TGCCCTTCTTGGTGCTCTTGG 0.522 6 95 --- --- --- --- PASS AMICA1 120425 broad.mit.edu 37 11 118074380 118074380 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:118074380C>A uc001psk.2 - 6 709 c.535G>T c.(535-537)GAG>TAG p.E179* AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Nonsense_Mutation_p.E140*|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Nonsense_Mutation_p.E169*|AMICA1_uc001psj.2_Nonsense_Mutation_p.E168*|AMICA1_uc010rxw.1_Nonsense_Mutation_p.E140*|AMICA1_uc010rxx.1_Nonsense_Mutation_p.E179*|AMICA1_uc001psl.1_Nonsense_Mutation_p.E135* NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 179 Ig-like V-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ACAATCTCCTCCTAGAAGTGA 0.512 32 76 --- --- --- --- PASS ATP5L 10632 broad.mit.edu 37 11 118272382 118272382 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:118272382T>C uc001psx.2 + 1 279 c.2T>C c.(1-3)ATG>ACG p.M1T NM_006476 NP_006467 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial F0 1 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) TCCAGAACCATGGCCCAATTT 0.672 9 35 --- --- --- --- PASS CRTAM 56253 broad.mit.edu 37 11 122720898 122720898 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr11:122720898A>G uc001pyj.2 + 2 169 c.169A>G c.(169-171)ACC>GCC p.T57A NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated 57 Ig-like V-type.|Extracellular (Potential). cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CTCAGGGTTCACCATTTTTTT 0.483 17 71 --- --- --- --- PASS GNB3 2784 broad.mit.edu 37 12 6954923 6954923 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:6954923C>T uc001qrd.2 + 10 1278 c.873C>T c.(871-873)GAC>GAT p.D291D GNB3_uc001qrc.2_Silent_p.D247D|GNB3_uc009zfe.2_Silent_p.D290D|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 291 WD 6. cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 GCTACGACGACTTCAACTGCA 0.607 96 188 --- --- --- --- PASS CLEC4A 50856 broad.mit.edu 37 12 8281903 8281903 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:8281903A>G uc001qtz.1 + 3 490 c.243A>G c.(241-243)ACA>ACG p.T81T CLEC4A_uc009zga.1_Silent_p.T42T|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 81 Extracellular (Potential). cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) AAAAGACTACAAAAGAGCTGG 0.328 20 62 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9313702 9313702 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:9313702C>G uc001qvl.2 - 23 2828 c.2799G>C c.(2797-2799)GTG>GTC p.V933V PZP_uc009zgl.2_Silent_p.V719V|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.C165S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ACTGCTCAGACACATTAGCAC 0.333 27 95 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9313712 9313712 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:9313712C>A uc001qvl.2 - 23 2818 c.2789G>T c.(2788-2790)GGT>GTT p.G930V PZP_uc009zgl.2_Missense_Mutation_p.G716V|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.V162L NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CACATTAGCACCTTTAGAAAC 0.318 25 93 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21196447 21196447 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:21196447G>A uc010sin.1 + 6 766 c.766G>A c.(766-768)GAT>AAT p.D256N SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.D303N NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 256 membrane transporter activity 0 AAAAACTAATGATAAAAGGAA 0.294 6 63 --- --- --- --- PASS CAPRIN2 65981 broad.mit.edu 37 12 30868013 30868013 + Nonsense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:30868013G>A uc001rji.1 - 15 3281 c.2530C>T c.(2530-2532)CAG>TAG p.Q844* CAPRIN2_uc001rjf.1_Nonsense_Mutation_p.Q640*|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q511*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q794*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q510*|CAPRIN2_uc001rjk.3_Nonsense_Mutation_p.Q843*|CAPRIN2_uc001rjl.3_Nonsense_Mutation_p.Q788*|CAPRIN2_uc001rjm.1_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 844 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACATTCGTCTGTGCTGGGTAA 0.423 60 123 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32134684 32134684 + Silent SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:32134684A>G uc001rks.2 + 4 1209 c.795A>G c.(793-795)CCA>CCG p.P265P NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 265 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CAGCTGTACCATCACAGCAGT 0.388 64 118 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41419027 41419027 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:41419027A>G uc001rmm.1 + 21 2712 c.2599A>G c.(2599-2601)AGG>GGG p.R867G CNTN1_uc001rmn.1_Missense_Mutation_p.R856G NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 867 Fibronectin type-III 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GTACTCGGCCAGGCTCGAGAA 0.493 111 270 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41966513 41966513 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:41966513C>T uc010skn.1 + 10 1403 c.1335C>T c.(1333-1335)GAC>GAT p.D445D PDZRN4_uc001rmq.3_Silent_p.D386D|PDZRN4_uc009zjz.2_Silent_p.D384D|PDZRN4_uc001rmr.2_Silent_p.D271D NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 644 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAGAGTATGACCTGTATTACT 0.448 38 77 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43822469 43822469 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:43822469C>G uc010skx.1 - 25 3623 c.3623G>C c.(3622-3624)TGT>TCT p.C1208S ADAMTS20_uc001rno.1_Missense_Mutation_p.C326S|ADAMTS20_uc001rnp.1_Missense_Mutation_p.C362S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1208 TSP type-1 8. 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) CCACTCTCCACAAGGGGTAAA 0.358 19 49 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43944852 43944852 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:43944852T>A uc010skx.1 - 2 313 c.313A>T c.(313-315)ACC>TCC p.T105S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 105 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) TGCACCTCGGTGTAGCCGGCG 0.662 11 27 --- --- --- --- PASS HOXC5 3222 broad.mit.edu 37 12 54427303 54427303 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:54427303C>A uc001sew.2 + 1 472 c.397C>A c.(397-399)CAG>AAG p.Q133K HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 133 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGACTGAGCCAGCCACCGGC 0.632 5 4 --- --- --- --- PASS SLC26A10 65012 broad.mit.edu 37 12 58017644 58017644 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:58017644T>A uc001spe.2 + 8 1390 c.1079T>A c.(1078-1080)GTG>GAG p.V360E SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 360 Helical; (Potential). integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TCCTGCACAGTGGTCCTGTCG 0.567 37 103 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58135772 58135772 + Missense_Mutation SNP C T T rs145881416 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:58135772C>T uc001spr.2 - 1 169 c.83G>A c.(82-84)CGC>CAC p.R28H NM_014770 NP_055585 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-S Error:Variant_position_missing_in_Q99490_after_alignment axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 CTTCCTGAGGCGGTTTAGAGC 0.567 6 172 --- --- --- --- PASS LEMD3 23592 broad.mit.edu 37 12 65632464 65632464 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:65632464C>T uc001ssl.1 + 6 1797 c.1791C>T c.(1789-1791)GGC>GGT p.G597G LEMD3_uc009zqo.1_Silent_p.G596G NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 597 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) TTGGTTTTGGCCCTGAGGAAG 0.368 35 102 --- --- --- --- PASS MDM1 56890 broad.mit.edu 37 12 68716991 68716991 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:68716991T>A uc001stz.2 - 5 799 c.663A>T c.(661-663)CCA>CCT p.P221P MDM1_uc010stc.1_Silent_p.P176P|MDM1_uc009zqv.1_5'UTR NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 221 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CTTTGAATGGTGGAACAAACT 0.299 49 146 --- --- --- --- PASS RAB3IP 117177 broad.mit.edu 37 12 70206564 70206564 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:70206564T>C uc001svp.2 + 9 1632 c.1185T>C c.(1183-1185)TGT>TGC p.C395C RAB3IP_uc001svm.2_Silent_p.C379C|RAB3IP_uc001svn.2_Intron|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Intron|RAB3IP_uc001svr.2_Intron|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_Silent_p.C173C NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 395 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) ACAGAAAATGTGCTCTCACTG 0.318 31 65 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72372760 72372760 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:72372760G>A uc009zrw.1 + 7 975 c.834G>A c.(832-834)GTG>GTA p.V278V TPH2_uc001swy.2_Silent_p.V188V NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 278 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) TGAGGCCGGTGGCTGGATACC 0.532 49 107 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72969167 72969167 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:72969167A>T uc001sxa.2 + 11 2159 c.2129A>T c.(2128-2130)GAG>GTG p.E710V NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 710 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CGGAATCATGAGGTACACTCC 0.353 30 84 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88505121 88505121 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:88505121T>C uc001tar.2 - 22 2569 c.2225A>G c.(2224-2226)CAT>CGT p.H742R CEP290_uc001tat.2_Missense_Mutation_p.H535R|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 742 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TTTTTCAAGATGGTCTATCTG 0.368 6 17 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97112245 97112245 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:97112245G>T uc001tet.1 + 16 2102 c.2024G>T c.(2023-2025)AGT>ATT p.S675I NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 675 skin(6)|ovary(1) 7 GATGATGGAAGTTCATTTTAT 0.269 25 96 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97133762 97133762 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:97133762C>T uc001tet.1 + 18 2347 c.2269C>T c.(2269-2271)CTT>TTT p.L757F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 757 skin(6)|ovary(1) 7 TACACTTACACTTCTCCAGGA 0.308 19 53 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104056738 104056738 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:104056738C>T uc001tjw.2 + 18 2170 c.1984C>T c.(1984-1986)CCC>TCC p.P662S NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 662 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCCGATTCTGCCCCATCGATG 0.453 37 121 --- --- --- --- PASS DAO 1610 broad.mit.edu 37 12 109292474 109292474 + Nonsense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:109292474G>T uc001tnr.3 + 9 868 c.715G>T c.(715-717)GGA>TGA p.G239* DAO_uc001tnq.3_Nonsense_Mutation_p.G173*|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 239 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 AGTTACTCTTGGAGGCATCTT 0.468 29 87 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109650737 109650737 + Nonsense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:109650737C>T uc001tob.2 + 22 3465 c.3346C>T c.(3346-3348)CAG>TAG p.Q1116* ACACB_uc001toc.2_Nonsense_Mutation_p.Q1116* NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1116 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GCAGTTGGTCCAGAGGTGAAT 0.552 30 101 --- --- --- --- PASS KSR2 283455 broad.mit.edu 37 12 117977639 117977639 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:117977639C>G uc001two.2 - 10 1540 c.1485G>C c.(1483-1485)ACG>ACC p.T495T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 524 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGAGGACGTCGTGGAGGAGG 0.642 12 34 --- --- --- --- PASS BRI3BP 140707 broad.mit.edu 37 12 125509875 125509875 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:125509875A>T uc001uha.1 + 3 798 c.655A>T c.(655-657)AGC>TGC p.S219C NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN BRI3-binding protein 219 Potential. integral to membrane|mitochondrial outer membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) cagcaaccccagcGTGGAGGA 0.547 12 28 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 130184571 130184571 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:130184571C>A uc009zyl.1 - 2 1080 c.752G>T c.(751-753)CGG>CTG p.R251L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 251 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGGCCTGTCCGGATCCCATT 0.617 33 97 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132562020 132562020 + Silent SNP C T T rs149254036 byFrequency TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:132562020C>T uc001ujn.2 + 52 9209 c.9174C>T c.(9172-9174)ACC>ACT p.T3058T EP400_uc001ujl.2_Silent_p.T3057T|EP400_uc001ujm.2_Silent_p.T2977T|EP400_uc001ujp.2_Silent_p.T268T|EP400_uc010tbo.1_Missense_Mutation_p.R125C NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 3094 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) CTGCAGTGACCGCGACTGCCC 0.652 33 69 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133201511 133201511 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:133201511C>A uc001uks.1 - 48 6771 c.6727G>T c.(6727-6729)GCC>TCC p.A2243S POLE_uc001ukq.1_Missense_Mutation_p.A453S|POLE_uc001ukr.1_Missense_Mutation_p.A1047S|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2243 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATGGTGAGGGCGAAGTCTCCC 0.657 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 11 38 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32835816 32835816 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr13:32835816T>A uc001utx.2 + 52 7976 c.7480T>A c.(7480-7482)TGT>AGT p.C2494S FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.C49S|FRY_uc001utz.2_Missense_Mutation_p.C19S|FRY_uc010tdx.1_5'Flank NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2494 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTGGATAAGTGTGATATGCA 0.493 36 25 --- --- --- --- PASS N4BP2L2 10443 broad.mit.edu 37 13 33096393 33096393 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr13:33096393C>A uc001uuk.3 - 4 1577 c.1399G>T c.(1399-1401)GAT>TAT p.D467Y N4BP2L2_uc001uuj.2_5'UTR|N4BP2L2_uc010abe.1_Missense_Mutation_p.D38Y|N4BP2L2_uc010tdz.1_Missense_Mutation_p.D23Y NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 467 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CTTCCCTGATCGATAGCTTGT 0.259 59 92 --- --- --- --- PASS TNFSF11 8600 broad.mit.edu 37 13 43180990 43180990 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr13:43180990C>T uc001uyu.2 + 5 1039 c.890C>T c.(889-891)TCC>TTC p.S297F TNFSF11_uc001uyt.2_Missense_Mutation_p.S224F NM_003701 NP_003692 O14788 TNF11_HUMAN tumor necrosis factor ligand superfamily, member 297 Extracellular (Potential). immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding 0 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TCCAACCCCTCCTTACTGGAT 0.423 69 83 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70681734 70681734 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr13:70681734G>T uc001vip.2 - 1 892 c.98C>A c.(97-99)GCG>GAG p.A33E KLHL1_uc010thm.1_Missense_Mutation_p.A33E|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 33 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GCCTCCCCCCGCCGGGCCGCC 0.622 10 15 --- --- --- --- PASS ITGBL1 9358 broad.mit.edu 37 13 102367951 102367951 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr13:102367951G>T uc001vpb.2 + 11 1651 c.1432G>T c.(1432-1434)GAT>TAT p.D478Y ITGBL1_uc010agb.2_Missense_Mutation_p.D429Y|ITGBL1_uc001vpc.3_Missense_Mutation_p.D337Y NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 478 X.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAATGCTGGGATGGATGGAA 0.368 68 102 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389542 20389542 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:20389542G>A uc010tkw.1 + 1 777 c.777G>A c.(775-777)GTG>GTA p.V259V NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCATCTATGTGTGGCCCTTTA 0.413 8 467 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483236 20483236 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:20483236C>A uc010tky.1 - 1 117 c.117G>T c.(115-117)ATG>ATT p.M39I NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GGTTACCCAGCATAATGGCCA 0.433 19 48 --- --- --- --- PASS OR11G2 390439 broad.mit.edu 37 14 20665548 20665548 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:20665548T>C uc010tlb.1 + 1 54 c.54T>C c.(52-54)TGT>TGC p.C18C NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCCATCTATGTTTGCACCGTC 0.353 23 38 --- --- --- --- PASS OR11H6 122748 broad.mit.edu 37 14 20692683 20692683 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:20692683C>A uc010tlc.1 + 1 815 c.815C>A c.(814-816)ACC>AAC p.T272N NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 272 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TTCTATGGAACCCTTATGGTG 0.473 63 105 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23853813 23853813 + Silent SNP C T T rs139597048 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:23853813C>T uc001wjv.2 - 36 5470 c.5403G>A c.(5401-5403)GAG>GAA p.E1801E NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1801 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCTGCTCGGCCTCGTCCAGCC 0.632 4 95 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23884402 23884402 + Silent SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:23884402T>C uc001wjx.2 - 37 5467 c.5361A>G c.(5359-5361)GAA>GAG p.E1787E NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1787 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TAATGGTCTGTTCCATGTTCT 0.622 46 131 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24524987 24524987 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:24524987C>T uc001wlj.2 + 10 916 c.759C>T c.(757-759)GCC>GCT p.A253A NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 253 LRR 1. ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) TGGACAACGCCGGGCTTAAGA 0.448 40 61 --- --- --- --- PASS STRN3 29966 broad.mit.edu 37 14 31381003 31381003 + Missense_Mutation SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:31381003G>C uc001wqu.2 - 12 1794 c.1578C>G c.(1576-1578)ATC>ATG p.I526M STRN3_uc001wqv.2_Missense_Mutation_p.I442M|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 526 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TAAATGTGTAGATAGGCTCTA 0.333 13 56 --- --- --- --- PASS HECTD1 25831 broad.mit.edu 37 14 31609180 31609180 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:31609180C>T uc001wrc.1 - 19 3386 c.2897G>A c.(2896-2898)CGA>CAA p.R966Q HECTD1_uc001wrd.1_Missense_Mutation_p.R481Q NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 966 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TATTAACTTTCGAATTAACGC 0.338 3 79 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74824956 74824956 + Silent SNP C T T rs45500395 byFrequency TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:74824956C>T uc001xpw.3 + 2 1661 c.1470C>T c.(1468-1470)GAC>GAT p.D490D NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 490 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CAGGTGAGGACCCTCCCGCCC 0.662 31 29 --- --- --- --- PASS DIO2 1734 broad.mit.edu 37 14 80677661 80677661 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:80677661C>A uc010tvq.1 - 2 557 c.155G>T c.(154-156)CGG>CTG p.R52L uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.R52L|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.R52L|DIO2_uc010tvr.1_Missense_Mutation_p.R52L|DIO2_uc010asy.2_Missense_Mutation_p.R52L NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 52 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) CAGCATGCGCCGCCACTCTCC 0.587 15 7 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89163203 89163203 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:89163203C>A uc001xxg.2 - 16 2518 c.2332G>T c.(2332-2334)GTT>TTT p.V778F EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 778 WD 12. cytoplasm|microtubule ovary(3) 3 GAGAAATCAACGGCACTAACA 0.393 12 20 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92139233 92139233 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:92139233C>A uc001xzs.1 - 13 1246 c.1106G>T c.(1105-1107)GGA>GTA p.G369V CATSPERB_uc010aub.1_5'Flank NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 369 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) GAGGTAAACTCCAGTACCACG 0.353 96 128 --- --- --- --- PASS CATSPERB 79820 broad.mit.edu 37 14 92185772 92185772 + Silent SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:92185772T>A uc001xzs.1 - 5 500 c.360A>T c.(358-360)ACA>ACT p.T120T NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 120 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTGTGCTTTGTGTGATGTTTT 0.303 32 50 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93107667 93107667 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:93107667G>T uc001yap.2 + 5 677 c.525G>T c.(523-525)CTG>CTT p.L175L RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.L100L NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 175 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) TCGCCAACCTGGGTCTGGGTG 0.637 30 28 --- --- --- --- PASS MARK3 4140 broad.mit.edu 37 14 103931944 103931944 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr14:103931944C>T uc001ymz.3 + 8 1257 c.591C>T c.(589-591)TTC>TTT p.F197F MARK3_uc001ymx.3_Silent_p.F197F|MARK3_uc001ymw.3_Silent_p.F197F|MARK3_uc001yna.3_Silent_p.F197F|MARK3_uc001ymy.3_Intron|MARK3_uc010awp.2_Silent_p.F220F|MARK3_uc010tyb.1_Silent_p.F8F NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 197 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) TAGCAGATTTCGGTTTTAGCA 0.388 19 116 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22841050 22841050 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:22841050G>T uc001yur.3 + 5 548 c.418G>T c.(418-420)GAT>TAT p.D140Y TUBGCP5_uc001yuq.2_Missense_Mutation_p.D140Y NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 140 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) AAAGAAAGATGATTTCGACTG 0.328 17 31 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24922681 24922681 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:24922681C>A uc001ywo.2 + 1 2141 c.1667C>A c.(1666-1668)ACT>AAT p.T556N NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 556 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GTCATTTCCACTGTCACAACA 0.493 53 77 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25924963 25924963 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:25924963C>A uc010ayu.2 - 21 4131 c.4025G>T c.(4024-4026)AGG>ATG p.R1342M NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1342 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTTGACTGTCCTCCCTGATGA 0.627 40 70 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346393 29346393 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:29346393C>T uc001zck.2 + 3 513 c.306C>T c.(304-306)CGC>CGT p.R102R APBA2_uc010azj.2_Silent_p.R102R|APBA2_uc010uat.1_Silent_p.R102R|APBA2_uc001zcl.2_Silent_p.R102R|APBA2_uc010uas.1_Silent_p.R102R NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 102 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ACTACATCCGCTACTGCCCTG 0.597 54 57 --- --- --- --- PASS SCG5 6447 broad.mit.edu 37 15 32935913 32935913 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:32935913C>G uc001zha.2 + 2 237 c.120C>G c.(118-120)ATC>ATG p.I40M SCG5_uc001zgz.2_Missense_Mutation_p.I40M NM_001144757 NP_001138229 P05408 7B2_HUMAN secretogranin V isoform 1 40 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule enzyme inhibitor activity|GTP binding|unfolded protein binding 0 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) AAGCAGATATCCAGAGGCTGC 0.562 48 65 --- --- --- --- PASS GJD2 57369 broad.mit.edu 37 15 35044940 35044940 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:35044940G>T uc001zis.1 - 2 705 c.705C>A c.(703-705)CCC>CCA p.P235P uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 235 Extracellular (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CCTTGATGCAGGGGTAGCGGT 0.478 22 35 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68618991 68618991 + Splice_Site SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:68618991C>A uc002ari.2 - 17 2298 c.2211_splice c.e17+1 p.L737_splice ITGA11_uc010bib.2_Splice_Site_p.L737_splice NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) TGCCAGCTTACCAGGACATGG 0.632 4 9 --- --- --- --- PASS CORO2B 10391 broad.mit.edu 37 15 69011811 69011811 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:69011811G>T uc002arj.3 + 11 1260 c.1231G>T c.(1231-1233)GCT>TCT p.A411S CORO2B_uc010bic.2_Missense_Mutation_p.A406S|CORO2B_uc002ark.2_Missense_Mutation_p.A178S NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 411 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 GGTATTTAAGGCTCCCATCAA 0.408 52 105 --- --- --- --- PASS CYP1A2 1544 broad.mit.edu 37 15 75047333 75047333 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:75047333G>A uc002ayr.1 + 7 1519 c.1455G>A c.(1453-1455)CCG>CCA p.P485P NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 485 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GCGTGCCGCCGGGCGTGAAAG 0.612 40 49 --- --- --- --- PASS CIB2 10518 broad.mit.edu 37 15 78398097 78398097 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:78398097C>A uc002bdb.1 - 5 847 c.526G>T c.(526-528)GCC>TCC p.A176S CIB2_uc002bdc.1_Missense_Mutation_p.A133S|CIB2_uc010ums.1_Missense_Mutation_p.A176S NM_006383 NP_006374 O75838 CIB2_HUMAN DNA-dependent protein kinase catalytic 176 EF-hand 3. calcium ion binding 0 AAGTCAGGGGCCTTGGCAATC 0.627 6 49 --- --- --- --- PASS TMED3 23423 broad.mit.edu 37 15 79603747 79603747 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:79603747C>G uc002beu.2 + 1 257 c.156C>G c.(154-156)TCC>TCG p.S52S TMED3_uc010unj.1_Silent_p.S52S|TMED3_uc002bev.2_RNA NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 domain containing 3 52 Lumenal (Potential).|GOLD. protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane ovary(1)|skin(1) 2 TGAAGTTCTCCCTGGATTACC 0.692 9 14 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81625008 81625008 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr15:81625008A>T uc002bgo.1 - 22 3055 c.3055T>A c.(3055-3057)TTC>ATC p.F1019I TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 1019 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GGGTATTGGAAATTCCGGGAT 0.582 7 55 --- --- --- --- PASS IGFALS 3483 broad.mit.edu 37 16 1842028 1842028 + Silent SNP G T T rs141901437 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:1842028G>T uc002cmy.2 - 2 472 c.391C>A c.(391-393)CGG>AGG p.R131R IGFALS_uc010uvn.1_Silent_p.R169R|IGFALS_uc010uvo.1_5'UTR NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 131 LRR 3. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 AGCTGGTTCCGCTCCAGGTGC 0.692 8 13 --- --- --- --- PASS CLDN9 9080 broad.mit.edu 37 16 3063914 3063914 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:3063914C>T uc010uwo.1 + 1 1458 c.551C>T c.(550-552)ACG>ATG p.T184M NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 184 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CTCTGCTGCACGTGCCCCCCG 0.721 8 20 --- --- --- --- PASS IL32 9235 broad.mit.edu 37 16 3119200 3119200 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:3119200G>T uc002cto.2 + 6 760 c.549G>T c.(547-549)CTG>CTT p.L183L IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L117L|IL32_uc010btb.2_Silent_p.L127L|IL32_uc002ctl.2_Silent_p.L137L|IL32_uc002ctm.2_Silent_p.L137L|IL32_uc002ctn.2_Silent_p.L137L|IL32_uc002cts.3_Silent_p.L137L|IL32_uc002ctp.2_Silent_p.L117L|IL32_uc002ctq.2_Silent_p.L183L|IL32_uc002ctr.2_Silent_p.L117L|IL32_uc002ctt.2_Silent_p.L137L|IL32_uc010uwr.1_Silent_p.L97L|IL32_uc002ctu.2_Silent_p.L128L NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 183 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 TGGTGGCCCTGGTCCATGCAG 0.592 15 69 --- --- --- --- PASS ZNF75A 7627 broad.mit.edu 37 16 3367431 3367431 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:3367431C>G uc002cut.3 + 6 979 c.453C>G c.(451-453)CAC>CAG p.H151Q ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TGGATCGTCACAAGAAAGATT 0.398 3 74 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20471499 20471499 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:20471499C>A uc010bwe.2 + 3 302 c.63C>A c.(61-63)CGC>CGA p.R21R ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Silent_p.R21R|ACSM2A_uc002dhg.3_Silent_p.R21R|ACSM2A_uc010vay.1_Intron NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 21 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 TGTCCAGCCGCACTCTCTACA 0.507 26 52 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20559758 20559758 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:20559758G>T uc002dhj.3 - 8 1142 c.932C>A c.(931-933)GCC>GAC p.A311D ACSM2B_uc002dhk.3_Missense_Mutation_p.A311D|ACSM2B_uc010bwf.1_Missense_Mutation_p.A311D NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 311 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 AACAATAGGGGCACCCATCAT 0.507 33 106 --- --- --- --- PASS ZKSCAN2 342357 broad.mit.edu 37 16 25255346 25255346 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:25255346C>A uc002dod.3 - 6 2148 c.1741G>T c.(1741-1743)GCC>TCC p.A581S ZKSCAN2_uc010vcl.1_Missense_Mutation_p.A377S NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 581 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) TTAATCAGGGCATCCATCTCC 0.527 40 107 --- --- --- --- PASS GDPD3 79153 broad.mit.edu 37 16 30119569 30119569 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:30119569T>C uc002dwp.2 - 9 863 c.784A>G c.(784-786)AGT>GGT p.S262G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.S200G NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 262 GDPD.|Cytoplasmic (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 CGGATCAGACTCTTCCTCATG 0.542 26 60 --- --- --- --- PASS TBC1D10B 26000 broad.mit.edu 37 16 30369819 30369819 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:30369819G>A uc002dxu.2 - 9 1891 c.1873C>T c.(1873-1875)CGG>TGG p.R625W TBC1D10B_uc002dxt.2_Missense_Mutation_p.R50W NM_015527 NP_056342 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 625 cytoplasm Rab GTPase activator activity 0 Colorectal(24;0.193) AGCTCCCCCCGCGTTTCCCGC 0.652 5 4 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89882355 89882355 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:89882355G>T uc002fou.1 - 2 161 c.119C>A c.(118-120)GCA>GAA p.A40E FANCA_uc010vpn.1_Missense_Mutation_p.A40E|FANCA_uc002fov.1_Missense_Mutation_p.A23E|FANCA_uc002fow.1_Missense_Mutation_p.A40E|FANCA_uc002fox.1_Missense_Mutation_p.A40E|FANCA_uc010ciu.1_Missense_Mutation_p.A40E|FANCA_uc002foy.2_Missense_Mutation_p.A40E NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 40 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TAATTTCTGTGCCCTTTCAGG 0.542 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 7 113 --- --- --- --- PASS TRPV3 162514 broad.mit.edu 37 17 3417929 3417929 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:3417929C>T uc002fvt.1 - 17 2558 c.2236G>A c.(2236-2238)GTC>ATC p.V746I SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.V730I|TRPV3_uc010vri.1_Missense_Mutation_p.V701I|TRPV3_uc010vrj.1_Missense_Mutation_p.V730I|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.V730I|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.V746I|TRPV3_uc002fvu.2_Missense_Mutation_p.V746I NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 746 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) AGGAAGGAGACGTGCGTCTTC 0.453 16 22 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C T T rs11540652 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 31 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10304656 10304656 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:10304656G>T uc002gmm.2 - 24 3139 c.3044C>A c.(3043-3045)GCA>GAA p.A1015E uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1015 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GTCCTCCTCTGCCTGCAGGTC 0.458 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 86 112 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11687649 11687649 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:11687649G>T uc002gne.2 + 41 7922 c.7854G>T c.(7852-7854)CCG>CCT p.P2618P DNAH9_uc010coo.2_Silent_p.P1912P NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2618 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTCCTTCCCGGGGGCAGATG 0.532 138 163 --- --- --- --- PASS TRIM16L 147166 broad.mit.edu 37 17 18638308 18638308 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:18638308C>T uc002gug.1 + 10 1269 c.582C>T c.(580-582)AGC>AGT p.S194S TRIM16L_uc010vyf.1_Silent_p.S248S|TRIM16L_uc002guh.1_Silent_p.S194S|TRIM16L_uc010cqg.1_Silent_p.S296S|TRIM16L_uc002gui.1_Silent_p.S194S|TRIM16L_uc010vyg.1_Silent_p.S194S|TRIM16L_uc010vyh.1_Missense_Mutation_p.A107V NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 194 B30.2/SPRY. cytoplasm 0 ACCTCCCCAGCAGGTTCCTGC 0.612 15 18 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520841 33520841 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:33520841C>A uc002hjd.2 - 1 572 c.486G>T c.(484-486)CTG>CTT p.L162L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 162 DUF6 1.|Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) TGCAGCCCAACAGTCCACACC 0.592 58 164 --- --- --- --- PASS TBC1D3B 414059 broad.mit.edu 37 17 34493456 34493456 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:34493456G>T uc002hky.2 - 14 1719 c.1569C>A c.(1567-1569)GAC>GAA p.D523E NM_001001417 NP_001001417 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3B 523 intracellular Rab GTPase activator activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) actgctgttcgTCCCTAGCTC 0.448 60 53 --- --- --- --- PASS HNF1B 6928 broad.mit.edu 37 17 36093605 36093605 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:36093605G>T uc002hok.3 - 3 975 c.754C>A c.(754-756)CGG>AGG p.R252R HNF1B_uc010wdi.1_Silent_p.R226R|HNF1B_uc010cve.1_Silent_p.R60R NM_000458 NP_000449 P35680 HNF1B_HUMAN hepatocyte nuclear factor 1-beta isoform 1 252 Homeobox; HNF1-type. endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TTCTTTTGCCGATCGTAGGCC 0.572 Hereditary_Prostate_Cancer 82 177 --- --- --- --- PASS KRT23 25984 broad.mit.edu 37 17 39087664 39087664 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:39087664A>T uc002hvm.1 - 3 1029 c.440T>A c.(439-441)ATT>AAT p.I147N KRT23_uc010wfl.1_Missense_Mutation_p.I10N|KRT23_uc010cxf.1_Translation_Start_Site|KRT23_uc010cxg.2_Missense_Mutation_p.I147N|KRT23_uc002hvn.1_Missense_Mutation_p.I147N NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 147 Rod.|Coil 1B. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) GGCATTGTCAATGAGAAGAAT 0.408 39 86 --- --- --- --- PASS TBX21 30009 broad.mit.edu 37 17 45822456 45822456 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:45822456G>A uc002ilv.1 + 6 1543 c.1332G>A c.(1330-1332)CCG>CCA p.P444P NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 444 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 AGATGGGCCCGGCCAGCTGGT 0.692 22 46 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901693 51901693 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:51901693G>T uc002iua.2 + 1 1455 c.1299G>T c.(1297-1299)CTG>CTT p.L433L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 433 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGATCATCCTGAAGTCAGGAC 0.512 13 65 --- --- --- --- PASS AKAP1 8165 broad.mit.edu 37 17 55183423 55183423 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:55183423G>T uc002iux.2 + 2 829 c.598G>T c.(598-600)GGT>TGT p.G200C AKAP1_uc010wnl.1_Missense_Mutation_p.G200C|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.G200C NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 200 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) AAGAGAGACAGGTGGGGCCGA 0.592 37 83 --- --- --- --- PASS USP32 84669 broad.mit.edu 37 17 58256732 58256732 + Nonsense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:58256732G>A uc002iyo.1 - 34 4985 c.4699C>T c.(4699-4701)CAG>TAG p.Q1567* USP32_uc002iyn.1_Nonsense_Mutation_p.Q1237* NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1567 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TCTATCCCCTGCTGCTCATAG 0.413 57 113 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65850849 65850849 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:65850849A>T uc002jgf.2 + 2 1468 c.1407A>T c.(1405-1407)AAA>AAT p.K469N BPTF_uc002jge.2_Missense_Mutation_p.K469N|BPTF_uc010wqm.1_Missense_Mutation_p.K469N NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 469 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTCGGAGGAAATACTGGTTCT 0.358 16 40 --- --- --- --- PASS GPRC5C 55890 broad.mit.edu 37 17 72436491 72436491 + Silent SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:72436491C>T uc002jks.2 + 1 615 c.576C>T c.(574-576)AGC>AGT p.S192S GPRC5C_uc002jkp.2_Silent_p.S237S|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.S204S|GPRC5C_uc002jkt.2_Silent_p.S192S|GPRC5C_uc002jku.2_5'Flank NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 192 Extracellular (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 AGGGCAACAGCAGCGCAGGCT 0.622 20 28 --- --- --- --- PASS GRIN2C 2905 broad.mit.edu 37 17 72843596 72843596 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:72843596C>T uc002jlt.1 - 9 2008 c.1852G>A c.(1852-1854)GAG>AAG p.E618K GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.E618K NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 618 Cytoplasmic (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CGCGGGTTCTCGATGGGCACT 0.627 4 65 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 76497289 76497289 + RNA SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:76497289C>A uc002jvt.1 + 2 c.2748C>A Homo sapiens cDNA FLJ45552 fis, clone BRTHA2038279. GGGTGATGACCAGCCGCGGCG 0.562 26 80 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78320176 78320176 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr17:78320176G>T uc002jyh.1 + 4 2483 c.2260G>T c.(2260-2262)GTC>TTC p.V754F NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAGAGATCCCGTCCTCTGGTC 0.522 5 66 --- --- --- --- PASS APCDD1 147495 broad.mit.edu 37 18 10487919 10487919 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr18:10487919G>T uc002kom.3 + 5 1783 c.1429G>T c.(1429-1431)GCA>TCA p.A477S NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 477 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) AGAGGACCTCGCAGAAGACAG 0.647 41 87 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32374114 32374114 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr18:32374114A>G uc010dmn.1 + 3 263 c.262A>G c.(262-264)ATT>GTT p.I88V DTNA_uc002kxu.2_Missense_Mutation_p.I88V|DTNA_uc010xbx.1_Missense_Mutation_p.I88V|DTNA_uc002kxv.3_Missense_Mutation_p.I88V|DTNA_uc002kxw.2_Missense_Mutation_p.I88V|DTNA_uc002kxx.2_Missense_Mutation_p.I88V|DTNA_uc010dmj.2_Missense_Mutation_p.I88V|DTNA_uc002kxz.2_Missense_Mutation_p.I88V|DTNA_uc002kxy.2_Missense_Mutation_p.I88V|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.I88V|DTNA_uc002kyb.3_Missense_Mutation_p.I88V|DTNA_uc010dmm.2_Missense_Mutation_p.I88V NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 88 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GCTCTCCACTATTTTTTACCA 0.488 34 100 --- --- --- --- PASS CELF4 56853 broad.mit.edu 37 18 34839211 34839211 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr18:34839211G>T uc002lae.2 - 11 1662 c.1266C>A c.(1264-1266)AAC>AAA p.N422K CELF4_uc010dnd.1_Missense_Mutation_p.N420K|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Missense_Mutation_p.N416K|CELF4_uc002lai.2_Missense_Mutation_p.N406K NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 422 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 AGATGAACAGGTTACAGCCCT 0.348 18 49 --- --- --- --- PASS SLC14A1 6563 broad.mit.edu 37 18 43316432 43316432 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr18:43316432C>A uc010xcn.1 + 7 801 c.482C>A c.(481-483)TCA>TAA p.S161* SLC14A1_uc010dnk.2_Nonsense_Mutation_p.S217*|SLC14A1_uc002lbf.3_Nonsense_Mutation_p.S161*|SLC14A1_uc002lbg.3_Intron|SLC14A1_uc010xco.1_Nonsense_Mutation_p.S56*|SLC14A1_uc002lbh.3_Nonsense_Mutation_p.S53*|SLC14A1_uc002lbi.3_Nonsense_Mutation_p.S29*|SLC14A1_uc002lbj.3_Nonsense_Mutation_p.S217*|SLC14A1_uc002lbk.3_Nonsense_Mutation_p.S161* NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 161 Helical; (Potential). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 CCAATTTTCTCAAGTGCATTG 0.468 51 137 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65181475 65181475 + Missense_Mutation SNP T G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr18:65181475T>G uc002lke.1 - 2 1625 c.401A>C c.(400-402)AAT>ACT p.N134T NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 124 integral to membrane isomerase activity|sulfotransferase activity p.N134N(1) ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AGGAGGCAGATTGTTACCATA 0.418 43 98 --- --- --- --- PASS CTDP1 9150 broad.mit.edu 37 18 77470345 77470345 + Splice_Site SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr18:77470345G>T uc002lnh.1 + 6 920 c.773_splice c.e6-1 p.G258_splice CTDP1_uc002lni.1_Splice_Site_p.G258_splice|CTDP1_uc010drd.1_Splice_Site_p.G258_splice NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TCTTTTCCAAGGCTTTTTAGA 0.403 93 242 --- --- --- --- PASS MARCH2 51257 broad.mit.edu 37 19 8491529 8491529 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:8491529G>T uc002mjv.2 + 4 654 c.213G>T c.(211-213)GCG>GCT p.A71A MARCH2_uc002mjw.2_Silent_p.A71A|MARCH2_uc002mjx.2_Silent_p.A71A NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2 71 RING-CH-type. endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ATGAGGGAGCGAACGGGGAGT 0.562 32 163 --- --- --- --- PASS MYO1F 4542 broad.mit.edu 37 19 8586456 8586456 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:8586456C>T uc002mkg.2 - 28 3367 c.3253G>A c.(3253-3255)GGC>AGC p.G1085S NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 1085 SH3. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CCCTCCTGGCCGTGAAGCCGG 0.622 6 128 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8993514 8993514 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:8993514C>A uc002mkp.2 - 66 41779 c.41575G>T c.(41575-41577)GAT>TAT p.D13859Y MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.D676Y|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13862 Extracellular (Potential).|SEA 12. Missing (in Ref. 3; AAK74120). 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 CAGATGGCATCCACTCCGGTG 0.582 23 57 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9020773 9020773 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:9020773G>A uc002mkp.2 - 20 37533 c.37329C>T c.(37327-37329)ACC>ACT p.T12443T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12445 Extracellular (Potential).|SEA 3. 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 ACCTGAGAGAGGTCAGTCTGC 0.537 67 95 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9058508 9058508 + Silent SNP G C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:9058508G>C uc002mkp.2 - 3 29142 c.28938C>G c.(28936-28938)ACC>ACG p.T9646T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9648 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGACAGCCTGGTGACAACTT 0.502 17 88 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9085067 9085067 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:9085067C>G uc002mkp.2 - 1 6952 c.6748G>C c.(6748-6750)GTC>CTC p.V2250L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2250 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAAAGGAGACAGTGGGAATA 0.458 14 70 --- --- --- --- PASS DCAF15 90379 broad.mit.edu 37 19 14065389 14065389 + Silent SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:14065389C>G uc002mxt.2 + 3 288 c.282C>G c.(280-282)ACC>ACG p.T94T PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 94 central_nervous_system(1) 1 TCTCCTACACCAGCAGCAGTG 0.582 55 74 --- --- --- --- PASS RFX1 5989 broad.mit.edu 37 19 14080949 14080949 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:14080949G>A uc002mxv.2 - 10 1625 c.1353C>T c.(1351-1353)GGC>GGT p.G451G RFX1_uc010dzi.2_Silent_p.G451G NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 451 RFX-type winged-helix. immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GCAGACTCACGCCCTCAGCCG 0.622 11 49 --- --- --- --- PASS NOTCH3 4854 broad.mit.edu 37 19 15281167 15281167 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:15281167C>A uc002nan.2 - 27 5165 c.5089G>T c.(5089-5091)GTG>TTG p.V1697L NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1697 Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TCCTGGCCCACGGGTTCCCGC 0.667 11 61 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934517 30934517 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:30934517A>T uc002nsu.1 + 2 186 c.48A>T c.(46-48)GAA>GAT p.E16D ZNF536_uc010edd.1_Missense_Mutation_p.E16D NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGGAGCCGGAAGCTGAGCCCC 0.627 54 154 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31770074 31770074 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:31770074T>A uc002nsy.3 - 2 690 c.625A>T c.(625-627)ACG>TCG p.T209S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 209 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CTGGCCCCCGTGAAGATGGAG 0.627 28 118 --- --- --- --- PASS SLC7A10 56301 broad.mit.edu 37 19 33703209 33703209 + Silent SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:33703209A>T uc002num.2 - 5 924 c.777T>A c.(775-777)GTT>GTA p.V259V SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Silent_p.V232V NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 259 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) TTCGGGCGTCAACCATCTCCT 0.662 15 15 --- --- --- --- PASS GPI 2821 broad.mit.edu 37 19 34869911 34869911 + Splice_Site SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:34869911G>A uc002nvg.1 + 7 808 c.705_splice c.e7+1 p.D235_splice GPI_uc002nvf.2_Splice_Site_p.D274_splice|GPI_uc010xrv.1_Splice_Site_p.D246_splice|GPI_uc010xrw.1_Splice_Site_p.D207_splice|GPI_uc010edl.1_Splice_Site_p.D235_splice NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) GGCCAAGGATGTGAGTGGGCT 0.582 79 93 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36353460 36353460 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:36353460A>T uc002ocb.3 + 12 1788 c.1576A>T c.(1576-1578)ATC>TTC p.I526F KIRREL2_uc002obz.3_Missense_Mutation_p.I526F|KIRREL2_uc002oca.3_Missense_Mutation_p.I476F|KIRREL2_uc002occ.3_Missense_Mutation_p.I473F|KIRREL2_uc002ocd.3_Intron NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 526 Helical; (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTTATGGTCATCACTGGGGT 0.682 93 102 --- --- --- --- PASS BCKDHA 593 broad.mit.edu 37 19 41903744 41903744 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:41903744G>T uc002oqq.2 + 1 41 c.12G>T c.(10-12)GCG>GCT p.A4A CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|EXOSC5_uc002oqo.2_5'Flank|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Silent_p.A4A|BCKDHA_uc010xvz.1_Silent_p.A4A NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 4 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 TGGCGGTAGCGATCGCTGCAG 0.622 13 28 --- --- --- --- PASS CEACAM21 90273 broad.mit.edu 37 19 42092216 42092216 + Missense_Mutation SNP A G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:42092216A>G uc002ore.3 + 6 970 c.874A>G c.(874-876)ATC>GTC p.I292V CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.I291V NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 292 Cytoplasmic (Potential). integral to membrane ovary(1) 1 TGACAGCTCCATCTCCTAGGT 0.597 9 6 --- --- --- --- PASS FBXO46 23403 broad.mit.edu 37 19 46216747 46216747 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:46216747G>A uc002pcy.2 - 2 132 c.7C>T c.(7-9)CGT>TGT p.R3C FBXO46_uc002pcz.2_Missense_Mutation_p.R3C NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 3 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) AGGCTCCCACGGTCCATGCTG 0.647 6 14 --- --- --- --- PASS LRRC4B 94030 broad.mit.edu 37 19 51021727 51021727 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:51021727C>T uc002pss.2 - 3 1380 c.1243G>A c.(1243-1245)GTC>ATC p.V415I NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 415 Extracellular (Potential).|Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TCATGCAGGACGGAGATGCGC 0.637 20 71 --- --- --- --- PASS ZNF350 59348 broad.mit.edu 37 19 52468196 52468196 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:52468196C>A uc002pyd.2 - 5 1738 c.1510G>T c.(1510-1512)GCA>TCA p.A504S uc002pyb.2_Intron|uc002pyc.2_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN zinc finger protein 350 504 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(1) 1 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) CTGTCCTGTGCAAATCCTCTG 0.453 26 88 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54403943 54403943 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:54403943C>A uc002qcq.1 + 14 1797 c.1515C>A c.(1513-1515)AAC>AAA p.N505K PRKCG_uc010yeg.1_Missense_Mutation_p.N505K|PRKCG_uc010yeh.1_Missense_Mutation_p.N392K NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 505 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GTAAGGAGAACGTCTTCCCCG 0.587 138 433 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54744980 54744980 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:54744980G>T uc002qeu.1 - 5 806 c.682C>A c.(682-684)CTG>ATG p.L228M LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.L228M|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.L228M|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.L228M|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.L228M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.L228M|LILRA6_uc010yeq.1_Missense_Mutation_p.L228M|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.L89M NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 228 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGCAGGGTCAGGAGGGAGGGC 0.637 14 48 --- --- --- --- PASS LENG8 114823 broad.mit.edu 37 19 54969376 54969376 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:54969376G>A uc002qfv.1 + 13 2030 c.1886G>A c.(1885-1887)CGA>CAA p.R629Q LENG8_uc002qfw.2_Missense_Mutation_p.R666Q Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 629 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) ACTGCCTACCGAATCCTCTAC 0.567 72 85 --- --- --- --- PASS ZNF549 256051 broad.mit.edu 37 19 58050032 58050032 + Nonsense_Mutation SNP G T T rs140955096 TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr19:58050032G>T uc002qpb.1 + 4 1909 c.1660G>T c.(1660-1662)GAA>TAA p.E554* ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Nonsense_Mutation_p.E541* NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCACACTGGCGAAAAGCCCTG 0.448 34 102 --- --- --- --- PASS PRND 23627 broad.mit.edu 37 20 4705465 4705465 + Missense_Mutation SNP C G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr20:4705465C>G uc002wkz.2 + 2 339 c.268C>G c.(268-270)CAC>GAC p.H90D NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 90 Globular. protein homooligomerization anchored to membrane|plasma membrane 0 CGATGGCATCCACTACAACGG 0.592 18 9 --- --- --- --- PASS RRBP1 6238 broad.mit.edu 37 20 17594839 17594839 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr20:17594839G>A uc002wpv.1 - 26 3276 c.2922C>T c.(2920-2922)GGC>GGT p.G974G RRBP1_uc010zrp.1_Silent_p.G147G|RRBP1_uc002wpt.1_Silent_p.G343G|RRBP1_uc002wpu.2_Silent_p.G748G|RRBP1_uc002wpw.1_Silent_p.G974G|RRBP1_uc010gcl.1_Silent_p.G748G NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1407 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 AGACAGAGGTGCCCTCCTTTG 0.532 16 61 --- --- --- --- PASS SPAG4 6676 broad.mit.edu 37 20 34203979 34203979 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr20:34203979C>A uc002xdb.1 + 1 171 c.54C>A c.(52-54)CCC>CCA p.P18P SPAG4_uc010zvi.1_5'UTR NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 18 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) AGCACACGCCCAACTTTTTCA 0.672 15 20 --- --- --- --- PASS SLA2 84174 broad.mit.edu 37 20 35242818 35242818 + Nonsense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr20:35242818G>T uc002xfv.2 - 7 917 c.555C>A c.(553-555)TGC>TGA p.C185* SLA2_uc002xfu.2_Intron NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 isoform a 185 SH2. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity 0 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CCTTGAGTAGGCAGCAGATGT 0.592 50 66 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61513191 61513191 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr20:61513191C>A uc002ydr.1 - 16 4381 c.4117G>T c.(4117-4119)GAT>TAT p.D1373Y DIDO1_uc002yds.1_Missense_Mutation_p.D1373Y NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1373 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AGAGCCTTATCTTTTGAGAAC 0.607 81 87 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28338313 28338313 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr21:28338313C>T uc002ymg.2 - 1 1127 c.398G>A c.(397-399)CGG>CAG p.R133Q NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 133 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CACTGTGCCCCGATAGAAGCA 0.652 5 17 --- --- --- --- PASS KRTAP26-1 388818 broad.mit.edu 37 21 31692350 31692350 + Missense_Mutation SNP A C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr21:31692350A>C uc002ynw.2 - 1 258 c.4T>G c.(4-6)TCT>GCT p.S2A NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 2 intermediate filament ovary(1) 1 TTGGGGCAAGACATAGTGAGG 0.507 5 14 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37618123 37618123 + Missense_Mutation SNP T G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr21:37618123T>G uc002yvg.2 + 19 3924 c.3845T>G c.(3844-3846)CTC>CGC p.L1282R DOPEY2_uc011aeb.1_Missense_Mutation_p.L1231R|DOPEY2_uc002yvh.2_Missense_Mutation_p.L133R NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1282 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TCCAACCTCCTCGCTCGCCAC 0.592 48 38 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38862669 38862669 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr21:38862669G>A uc002ywk.2 + 6 932 c.857G>A c.(856-858)TGT>TAT p.C286Y DYRK1A_uc002ywi.2_Missense_Mutation_p.C286Y|DYRK1A_uc002ywj.2_Missense_Mutation_p.C277Y|DYRK1A_uc002ywl.2_Missense_Mutation_p.C286Y|DYRK1A_uc002ywm.2_Missense_Mutation_p.C286Y|DYRK1A_uc011aei.1_Missense_Mutation_p.C47Y NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 286 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 ATCATTCACTGTGATCTAAAA 0.438 47 49 --- --- --- --- PASS RIPK4 54101 broad.mit.edu 37 21 43161625 43161625 + Nonsense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr21:43161625G>T uc002yzn.1 - 8 1776 c.1728C>A c.(1726-1728)TAC>TAA p.Y576* NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 576 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GCCAGGCAGCGTAGTGCAGTG 0.672 30 40 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23165557 23165557 + RNA SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr22:23165557G>T uc011aim.1 + 287 c.13119G>T Parts of antibodies, mostly variable regions. 0 TCCTGCACTGGAACCAGCAGT 0.572 154 323 --- --- --- --- PASS APOL5 80831 broad.mit.edu 37 22 36124888 36124888 + Silent SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr22:36124888A>T uc003aof.2 + 4 1245 c.1245A>T c.(1243-1245)CCA>CCT p.P415P NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 415 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 GCCACCAGCCAGCCCCACCAG 0.627 11 33 --- --- --- --- PASS ELFN2 114794 broad.mit.edu 37 22 37769709 37769709 + Silent SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr22:37769709C>A uc003asq.3 - 3 2652 c.1866G>T c.(1864-1866)GCG>GCT p.A622A NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 622 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GGGTCACGGCCGCGTCGGCGC 0.687 5 11 --- --- --- --- PASS CBX6 23466 broad.mit.edu 37 22 39262445 39262445 + Silent SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr22:39262445G>A uc003awl.2 - 5 1071 c.1008C>T c.(1006-1008)GCC>GCT p.A336A NM_014292 NP_055107 O95503 CBX6_HUMAN chromobox homolog 6 336 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex 0 Melanoma(58;0.04) GTGCCGGGCCGGCAGCAGCTG 0.746 7 9 --- --- --- --- PASS SHOX 6473 broad.mit.edu 37 X 601563 601563 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:601563T>A uc004cph.1 + 4 1185 c.494T>A c.(493-495)TTC>TAC p.F165Y SHOX_uc004cpi.2_Missense_Mutation_p.F165Y NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 165 Homeobox. skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAGGTTTGGTTCCAGAACCGG 0.582 39 58 --- --- --- --- PASS ASMT 438 broad.mit.edu 37 X 1742166 1742166 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:1742166G>T uc004cqd.2 + 3 349 c.204G>T c.(202-204)GTG>GTT p.V68V ASMT_uc010ncy.2_Silent_p.V68V|ASMT_uc004cqe.2_Silent_p.V68V NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 68 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACATCTGTGTGTCCCTGAAGC 0.607 13 24 --- --- --- --- PASS SHROOM2 357 broad.mit.edu 37 X 9905279 9905279 + Nonsense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:9905279C>A uc004csu.1 + 7 3783 c.3693C>A c.(3691-3693)TGC>TGA p.C1231* SHROOM2_uc004csv.2_Nonsense_Mutation_p.C66*|SHROOM2_uc011mic.1_Nonsense_Mutation_p.C66*|SHROOM2_uc004csw.1_Nonsense_Mutation_p.C66* NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1231 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GCCTGGCATGCCCCGCCGAGC 0.612 3 7 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39933802 39933802 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:39933802C>A uc004den.3 - 4 1089 c.797G>T c.(796-798)AGG>ATG p.R266M BCOR_uc004dep.3_Missense_Mutation_p.R266M|BCOR_uc004deo.3_Missense_Mutation_p.R266M|BCOR_uc004dem.3_Missense_Mutation_p.R266M|BCOR_uc004deq.3_Missense_Mutation_p.R266M NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 266 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TGTCGAGAGCCTCATGGGTGA 0.607 6 4 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44970626 44970626 + Splice_Site SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:44970626G>A uc004dge.3 + 29 4552 c.4177_splice c.e29-1 p.A1393_splice KDM6A_uc011mkz.1_Splice_Site_p.A1445_splice|KDM6A_uc011mla.1_Splice_Site_p.A1348_splice|KDM6A_uc011mlb.1_Splice_Site_p.A1400_splice|KDM6A_uc011mlc.1_Splice_Site_p.A1097_splice|KDM6A_uc011mld.1_Splice_Site_p.A1032_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TTTATTTTCAGGCTCCTCCAT 0.378 D|N|F|S renal|oesophageal SCC|MM 41 28 --- --- --- --- PASS SSX7 280658 broad.mit.edu 37 X 52677351 52677351 + Silent SNP T G G TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:52677351T>G uc004dqx.1 - 6 585 c.426A>C c.(424-426)CCA>CCC p.P142P NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) TTGGTTTTCCTGGAGGGCACA 0.493 92 67 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54337675 54337675 + Missense_Mutation SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:54337675T>C uc004dtd.1 - 3 1026 c.587A>G c.(586-588)GAG>GGG p.E196G WNK3_uc004dtc.1_Missense_Mutation_p.E196G NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 196 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CTTCAACATCTCTGCTTCTTC 0.363 26 29 --- --- --- --- PASS SPIN4 139886 broad.mit.edu 37 X 62570236 62570236 + Missense_Mutation SNP T A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:62570236T>A uc004dvf.2 - 1 983 c.463A>T c.(463-465)ACC>TCC p.T155S NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 155 gamete generation ovary(1)|lung(1) 2 TTCTCGTAGGTGATGTAAAAC 0.453 66 50 --- --- --- --- PASS MSN 4478 broad.mit.edu 37 X 64959616 64959616 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:64959616C>A uc004dwf.2 + 13 1793 c.1595C>A c.(1594-1596)GCC>GAC p.A532D NM_002444 NP_002435 P26038 MOES_HUMAN moesin 532 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 CTGGCCAATGCCAGAGATGAG 0.527 T ALK ALCL 47 40 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73063443 73063443 + RNA SNP T C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:73063443T>C uc004ebm.1 - 1 c.9146A>G NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 CATTAATGCATATTAAGTCCA 0.403 18 18 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 86068252 86068252 + Missense_Mutation SNP A C C TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:86068252A>C uc004eew.2 + 9 1679 c.1509A>C c.(1507-1509)AGA>AGC p.R503S DACH2_uc004eex.2_Missense_Mutation_p.R490S|DACH2_uc010nmq.2_Missense_Mutation_p.R369S|DACH2_uc011mra.1_Missense_Mutation_p.R336S|DACH2_uc010nmr.2_Missense_Mutation_p.R284S|DACH2_uc004eey.2_Missense_Mutation_p.R196S|DACH2_uc004eez.2_Missense_Mutation_p.R186S NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 503 Potential.|DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ACCTTGAAAGACAACTTGCAG 0.373 12 7 --- --- --- --- PASS DIAPH2 1730 broad.mit.edu 37 X 96173512 96173512 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:96173512G>T uc004efu.3 + 9 1270 c.874G>T c.(874-876)GAT>TAT p.D292Y DIAPH2_uc004eft.3_Missense_Mutation_p.D292Y|DIAPH2_uc004efs.2_Missense_Mutation_p.D299Y NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 292 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 CTACAGTCTAGATAAACTTTT 0.368 20 12 --- --- --- --- PASS ZMAT1 84460 broad.mit.edu 37 X 101139358 101139358 + Silent SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:101139358G>T uc004eim.2 - 2 4026 c.528C>A c.(526-528)CCC>CCA p.P176P ZMAT1_uc011mrl.1_Silent_p.P347P|ZMAT1_uc004ein.2_Silent_p.P176P|ZMAT1_uc011mrm.1_Silent_p.P176P NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 176 nucleus zinc ion binding ovary(1) 1 TTCTTGATCTGGGTCCAGAAT 0.448 78 60 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109695278 109695278 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:109695278C>T uc004eor.1 + 3 1679 c.1433C>T c.(1432-1434)ACA>ATA p.T478I RGAG1_uc011msr.1_Missense_Mutation_p.T478I NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 478 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCAATGCCCACAGGCTCTATG 0.512 66 47 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685379 125685379 + Missense_Mutation SNP C A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:125685379C>A uc004eul.2 - 1 1464 c.1213G>T c.(1213-1215)GCC>TCC p.A405S NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 405 skin(3)|ovary(1) 4 CTGCCACAGGCAAGCCTGAGC 0.557 21 26 --- --- --- --- PASS OR13H1 347468 broad.mit.edu 37 X 130678730 130678730 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:130678730G>A uc011muw.1 + 1 683 c.683G>A c.(682-684)CGC>CAC p.R228H IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) ATAAGGATTCGCTCACTCCAG 0.468 98 66 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134994064 134994064 + Missense_Mutation SNP G A A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:134994064G>A uc004ezh.2 + 18 2640 c.2473G>A c.(2473-2475)GAT>AAT p.D825N SAGE1_uc010nry.1_Missense_Mutation_p.D794N|SAGE1_uc011mvv.1_Missense_Mutation_p.D449N NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 825 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAAAATTAATGATGATATAAA 0.378 35 31 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135431138 135431138 + Missense_Mutation SNP G T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:135431138G>T uc004ezu.1 + 6 5564 c.5273G>T c.(5272-5274)AGT>ATT p.S1758I GPR112_uc010nsb.1_Missense_Mutation_p.S1553I|GPR112_uc010nsc.1_Missense_Mutation_p.S1525I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1758 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) CATGCAGATAGTCTCCATACT 0.408 75 64 --- --- --- --- PASS UBE2NL 389898 broad.mit.edu 37 X 142967473 142967473 + Missense_Mutation SNP A T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:142967473A>T uc004fca.2 + 1 301 c.271A>T c.(271-273)ATT>TTT p.I91F NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 91 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTTAGATATTTTGAAAGA 0.408 38 33 --- --- --- --- PASS FATE1 89885 broad.mit.edu 37 X 150891115 150891115 + Missense_Mutation SNP C T T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chrX:150891115C>T uc004fex.2 + 5 520 c.436C>T c.(436-438)CGG>TGG p.R146W NM_033085 NP_149076 Q969F0 FATE1_HUMAN fetal and adult testis expressed transcript 146 endoplasmic reticulum|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGCAGTCAACCGGCGTCTGCG 0.617 37 50 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75991401 75991403 + In_Frame_Del DEL GAA - - TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr5:75991401_75991403delGAA uc003kek.2 + 32 4338_4340 c.4116_4118delGAA c.(4114-4119)AGGAAA>AGA p.K1373del IQGAP2_uc011csv.1_In_Frame_Del_p.K869del|IQGAP2_uc003kel.2_In_Frame_Del_p.K869del|IQGAP2_uc010izw.1_In_Frame_Del_p.K74del NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1373 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGAAGAAGAGGAAAATCCAGAGG 0.438 59 30 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92120632 92120632 + Frame_Shift_Del DEL C - - TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr7:92120632delC uc003uly.2 - 21 3488 c.3392delG c.(3391-3393)GGAfs p.G1131fs PEX1_uc011khr.1_Frame_Shift_Del_p.G923fs|PEX1_uc010ley.2_Frame_Shift_Del_p.G1074fs|PEX1_uc011khs.1_Frame_Shift_Del_p.G809fs NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 1131 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ATAAGAGCTTCCAAAGTAGAG 0.383 121 54 --- --- --- --- ADAM2 2515 broad.mit.edu 37 8 39606830 39606830 + Splice_Site DEL C - - rs73676913 byFrequency TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:39606830delC uc003xnj.2 - 18 2089 c.2014_splice c.e18+1 p.E672_splice ADAM2_uc003xnk.2_Splice_Site_p.E653_splice|ADAM2_uc011lck.1_Splice_Site_p.E609_splice|ADAM2_uc003xnl.2_Splice_Site_p.E516_splice NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ttaataCTTACCAGGGAGTCT 0.294 72 37 --- --- --- --- SGK196 84197 broad.mit.edu 37 8 42977586 42977586 + Frame_Shift_Del DEL G - - TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr8:42977586delG uc003xpw.2 + 5 878 c.619delG c.(619-621)GACfs p.D207fs NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 207 Protein kinase. integral to membrane ATP binding|protein kinase activity 0 CGACTCCAACGACCTGCCGAA 0.552 49 32 --- --- --- --- PRKG1 5592 broad.mit.edu 37 10 53893617 53893617 + Frame_Shift_Del DEL C - - TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr10:53893617delC uc001jjm.2 + 8 1102 c.908delC c.(907-909)GCAfs p.A303fs PRKG1_uc001jjo.2_Frame_Shift_Del_p.A318fs|PRKG1_uc009xow.1_Frame_Shift_Del_p.A21fs NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 303 cGMP 2. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GTGAGAACAGCAAACGTAATT 0.338 40 28 --- --- --- --- BHLHE41 79365 broad.mit.edu 37 12 26275803 26275803 + Frame_Shift_Del DEL G - - TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr12:26275803delG uc001rhb.2 - 5 936 c.645delC c.(643-645)GCCfs p.A215fs NM_030762 NP_110389 Q9C0J9 BHE41_HUMAN basic helix-loop-helix domain containing, class 215 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GCACGCAGTAGGCGAGGGGCT 0.746 5 3 --- --- --- --- ZNF764 92595 broad.mit.edu 37 16 30567040 30567041 + Frame_Shift_Del DEL CA - - TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6 c08fd64b-2ac6-4a08-bce1-30c6e7b870d0 g.chr16:30567040_30567041delCA uc002dyq.2 - 3 782_783 c.701_702delTG c.(700-702)CTGfs p.L234fs ZNF764_uc002dyr.1_Frame_Shift_Del_p.L233fs NM_033410 NP_219363 Q96H86 ZN764_HUMAN zinc finger protein 764 234 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGCCACACTCCAGACAGCGGTG 0.688 14 7 --- --- --- ---