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 SPEN 23013 broad.mit.edu 37 1 16257904 16257904 + Silent SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:16257904A>T uc001axk.1 + 11 5373 c.5169A>T c.(5167-5169)TCA>TCT p.S1723S SPEN_uc010obp.1_Silent_p.S1682S NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1723 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGAAGGTTCATCAGGTGACC 0.592 62 59 --- --- --- --- PASS KLHDC7A 127707 broad.mit.edu 37 1 18808281 18808281 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:18808281G>A uc001bax.2 + 1 858 c.806G>A c.(805-807)CGA>CAA p.R269Q KLHDC7A_uc009vpg.2_Missense_Mutation_p.R51Q NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 269 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCCCGCGTCCGAATGGAGGAG 0.592 17 32 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37337887 37337887 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:37337887C>G uc001caz.2 - 4 769 c.634G>C c.(634-636)GAC>CAC p.D212H GRIK3_uc001cba.1_Missense_Mutation_p.D212H NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 212 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGCGAGTCGTCAGAGTCGATG 0.592 5 16 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507460 74507460 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:74507460G>T uc001dfy.3 - 7 1347 c.1155C>A c.(1153-1155)ATC>ATA p.I385I LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 385 ovary(2) 2 GAGTAGTATAGATTGGCTGAG 0.363 17 16 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78207351 78207351 + Missense_Mutation SNP A C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:78207351A>C uc001dht.2 - 3 472 c.125T>G c.(124-126)TTG>TGG p.L42W USP33_uc001dhu.2_Missense_Mutation_p.L11W|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.L42W NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 42 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 AACTGAATCCAAATGTGGACA 0.313 10 10 --- --- --- --- PASS WDR63 126820 broad.mit.edu 37 1 85592285 85592285 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:85592285G>T uc001dkt.2 + 20 2395 c.2204G>T c.(2203-2205)CGA>CTA p.R735L WDR63_uc009wcl.2_Missense_Mutation_p.R696L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 735 WD 4. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TACATCGGCCGAGAAGATGGA 0.488 4 29 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91740343 91740343 + Silent SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:91740343A>G uc001doa.3 - 33 3712 c.3612T>C c.(3610-3612)AGT>AGC p.S1204S HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.S883S|HFM1_uc001dob.3_Silent_p.S392S|HFM1_uc010osv.1_Silent_p.S888S NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1204 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAAGGTCCACACTTTGAGATT 0.284 17 9 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104116374 104116374 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:104116374G>T uc001duq.2 + 6 1174 c.558G>T c.(556-558)GAG>GAT p.E186D AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.E186D|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 186 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TTGCACTGGAGAAAGATTATG 0.403 83 103 --- --- --- --- PASS KCND3 3752 broad.mit.edu 37 1 112525141 112525141 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:112525141C>A uc001ebu.1 - 2 688 c.208G>T c.(208-210)GAG>TAG p.E70* KCND3_uc001ebv.1_Nonsense_Mutation_p.E70* NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 70 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AACTCCTTCTCCGTGCTGCCC 0.617 10 17 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144882681 144882681 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:144882681T>A uc001elw.3 - 24 3629 c.3338A>T c.(3337-3339)CAC>CTC p.H1113L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.H120L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1113 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GATGATATTGTGGGCATTCTT 0.478 T PDGFRB MPD 51 187 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152128280 152128280 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:152128280C>T uc001ezs.1 - 3 1360 c.1295G>A c.(1294-1296)AGA>AAA p.R432K NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 432 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 CTGGCCTTGTCTGTCTGTCTG 0.527 163 714 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154112355 154112355 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:154112355C>A uc001fdw.2 - 5 712 c.640G>T c.(640-642)GGA>TGA p.G214* NUP210L_uc010peh.1_Nonsense_Mutation_p.G214* NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 214 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) ATCACATCTCCTTGTTTCTCC 0.343 9 556 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154321553 154321553 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:154321553A>T uc001fex.2 + 28 3631 c.3631A>T c.(3631-3633)AGT>TGT p.S1211C NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 1197 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGACAGTGCCAGTAGCCCCAG 0.637 17 20 --- --- --- --- PASS OR10R2 343406 broad.mit.edu 37 1 158450386 158450386 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:158450386G>C uc010pik.1 + 1 719 c.719G>C c.(718-720)TGC>TCC p.C240S uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 240 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TCTTATCTCTGCATTCTGAGG 0.438 49 109 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158622411 158622411 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:158622411C>T uc001fst.1 - 23 3420 c.3221G>A c.(3220-3222)CGC>CAC p.R1074H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1074 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACGACGTCTGCGTTCTTCTGC 0.438 47 61 --- --- --- --- PASS PPOX 5498 broad.mit.edu 37 1 161140943 161140943 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:161140943C>A uc001fyj.2 + 13 1701 c.1411C>A c.(1411-1413)CTG>ATG p.L471M PPOX_uc001fyn.2_Missense_Mutation_p.L179M|PPOX_uc001fyg.2_Missense_Mutation_p.L471M|PPOX_uc001fyl.2_Missense_Mutation_p.L437M|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L309M|PPOX_uc001fyh.2_Missense_Mutation_p.L309M|PPOX_uc010pkg.1_Missense_Mutation_p.L309M|PPOX_uc009wuc.1_Missense_Mutation_p.L272M|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 471 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGTCAGTGTCCTGGGCACAGA 0.507 Porphyria_Variegata 7 261 --- --- --- --- PASS FCGR2C 9103 broad.mit.edu 37 1 161559371 161559371 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:161559371G>T uc001gav.2 + 3 252 c.153G>T c.(151-153)GTG>GTT p.V51V FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA NM_201563 NP_963857 Fc fragment of IgG, low affinity IIc, receptor 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAAAGGCTGTGCTGAAACTCG 0.572 38 57 --- --- --- --- PASS ALDH9A1 223 broad.mit.edu 37 1 165636578 165636578 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:165636578G>T uc001gdh.1 - 9 1422 c.1317C>A c.(1315-1317)ACC>ACA p.T439T ALDH9A1_uc010pky.1_Silent_p.T345T|ALDH9A1_uc010pkz.1_Silent_p.T429T NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 415 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) GTCCAAAAGTGGTATCATTGG 0.458 5 89 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169563946 169563946 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:169563946G>A uc001ggi.3 - 13 2336 c.2271C>T c.(2269-2271)ACC>ACT p.T757T SELP_uc001ggh.2_Silent_p.T592T|SELP_uc009wvr.2_Silent_p.T757T NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 757 Extracellular (Potential).|Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGGTTGGCACGGTAGTTGACC 0.428 23 33 --- --- --- --- PASS SELE 6401 broad.mit.edu 37 1 169698355 169698355 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:169698355C>T uc001ggm.3 - 7 1219 c.1062G>A c.(1060-1062)CAG>CAA p.Q354Q C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 354 Extracellular (Potential).|Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GCTGTGTCCACTGCCCTTGAG 0.448 22 35 --- --- --- --- PASS C1orf156 92342 broad.mit.edu 37 1 169762072 169762072 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:169762072T>C uc001ggn.2 - 2 1043 c.765A>G c.(763-765)CCA>CCG p.P255P C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 255 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTGTTACTTTTGGTTTCCTGC 0.333 39 69 --- --- --- --- PASS DARS2 55157 broad.mit.edu 37 1 173806114 173806114 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:173806114G>T uc001gjh.1 + 8 1110 c.700G>T c.(700-702)GGA>TGA p.G234* NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 234 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) CAGGGAACCTGGAAAGTTTTA 0.393 18 280 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176992585 176992585 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:176992585G>T uc001glc.2 - 7 1605 c.1393C>A c.(1393-1395)CGG>AGG p.R465R ASTN1_uc001glb.1_Silent_p.R465R|ASTN1_uc001gld.1_Silent_p.R465R|ASTN1_uc009wwx.1_Silent_p.R465R|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 465 EGF-like 1. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AGGAGCCGCCGGGCACAGAGG 0.622 10 7 --- --- --- --- PASS RGS18 64407 broad.mit.edu 37 1 192153562 192153562 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:192153562G>T uc001gsg.2 + 5 762 c.586G>T c.(586-588)GAC>TAC p.D196Y NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 196 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 TCTGAAATCTGACATCTATTT 0.413 42 24 --- --- --- --- PASS IL20 50604 broad.mit.edu 37 1 207039697 207039697 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:207039697G>A uc001her.2 + 2 257 c.213G>A c.(211-213)TTG>TTA p.L71L IL20_uc010pry.1_Silent_p.L142L|IL20_uc009xby.2_Silent_p.L71L NM_018724 NP_061194 Q9NYY1 IL20_HUMAN interleukin 20 precursor 71 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding 0 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) CTGAGTCTTTGCAAGACACAA 0.488 86 44 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216166399 216166399 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:216166399G>T uc001hku.1 - 35 7155 c.6768C>A c.(6766-6768)TCC>TCA p.S2256S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2256 Fibronectin type-III 9.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGACATTAAAGGAGTCAGGTG 0.468 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 191 --- --- --- --- PASS RAB3GAP2 25782 broad.mit.edu 37 1 220359061 220359061 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:220359061C>T uc010puk.1 - 18 1966 c.1802G>A c.(1801-1803)AGT>AAT p.S601N RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S181N NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 601 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TAAACGTTCACTTGCCAAAAT 0.328 16 24 --- --- --- --- PASS KCNK1 3775 broad.mit.edu 37 1 233802474 233802474 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:233802474G>T uc010pxo.1 + 2 657 c.489G>T c.(487-489)AGG>AGT p.R163S KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA NM_002245 NP_002236 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 163 Cytoplasmic (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity central_nervous_system(1) 1 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCACCCGCAGGCCGGTCCTCT 0.592 23 25 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235969140 235969140 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:235969140G>T uc001hxj.2 - 6 3471 c.3296C>A c.(3295-3297)TCA>TAA p.S1099* LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.S1099* NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1099 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACTTTGAAGTGAGGTCTCACT 0.423 Chediak-Higashi_syndrome 6 44 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240977014 240977014 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:240977014G>A uc001hyv.2 - 13 1190 c.860C>T c.(859-861)ACG>ATG p.T287M RGS7_uc010pyh.1_Missense_Mutation_p.T261M|RGS7_uc010pyj.1_Missense_Mutation_p.T203M|RGS7_uc001hyu.2_Missense_Mutation_p.T287M|RGS7_uc009xgn.1_Missense_Mutation_p.T234M|RGS7_uc001hyw.2_Missense_Mutation_p.T287M|RGS7_uc001hyt.2_Missense_Mutation_p.T119M NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 287 G protein gamma. 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) ATACTGTTCCGTGTAACTTAG 0.428 8 23 --- --- --- --- PASS KMO 8564 broad.mit.edu 37 1 241753535 241753535 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:241753535G>T uc009xgp.2 + 14 1295 c.1230G>T c.(1228-1230)GAG>GAT p.E410D KMO_uc001hyy.2_Missense_Mutation_p.E397D|KMO_uc009xgo.1_Missense_Mutation_p.E410D NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 410 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GATACCATGAGGCTGTGCAGC 0.318 17 83 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241886728 241886728 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:241886728C>A uc001hze.1 + 9 1361 c.1154C>A c.(1153-1155)TCC>TAC p.S385Y WDR64_uc001hzf.1_Missense_Mutation_p.S105Y B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 385 WD 4. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GTCAGCCTTTCCTCTGCAAAG 0.383 11 31 --- --- --- --- PASS SCCPDH 51097 broad.mit.edu 37 1 246890254 246890254 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:246890254C>T uc001ibr.2 + 2 598 c.251C>T c.(250-252)TCG>TTG p.S84L NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 84 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) AATCCAGCCTCGCTTGATGAA 0.383 18 48 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419455 247419455 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:247419455C>A uc010pyu.1 + 1 82 c.82C>A c.(82-84)CTT>ATT p.L28I NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 28 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CACAGATATCCTTTGCTTTAA 0.328 23 74 --- --- --- --- PASS OR2M5 127059 broad.mit.edu 37 1 248309295 248309295 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:248309295T>C uc010pze.1 + 1 846 c.846T>C c.(844-846)ACT>ACC p.T282T NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(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;0.0388) CCATCCTCACTCCCATGCTGA 0.502 39 39 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248366447 248366447 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:248366447C>A uc010pzg.1 + 1 78 c.78C>A c.(76-78)TTC>TTA p.F26L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0245) CCCACACCTTCCTCTTCTTTC 0.507 65 104 --- --- --- --- PASS FKBP1B 2281 broad.mit.edu 37 2 24276774 24276774 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:24276774A>G uc002rer.2 + 2 176 c.40A>G c.(40-42)AGG>GGG p.R14G FKBP1B_uc002res.2_Missense_Mutation_p.R14G|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA NM_004116 NP_004107 P68106 FKB1B_HUMAN FK506 binding protein 1B, 12.6 kDa isoform a 14 'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state calcium channel complex|sarcoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTGCAGGAAGGACATTCCC 0.557 19 89 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26717816 26717816 + Nonsense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:26717816G>C uc002rhk.2 - 9 1018 c.891C>G c.(889-891)TAC>TAG p.Y297* NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 297 Cytoplasmic (Potential).|C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACCTCGTTGTAATAGGGGC 0.572 21 51 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27800102 27800102 + Silent SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:27800102A>G uc002rkz.3 + 1 714 c.663A>G c.(661-663)TTA>TTG p.L221L NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 221 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CAAAATTCTTAGGATTAACTC 0.443 11 47 --- --- --- --- PASS GALNT14 79623 broad.mit.edu 37 2 31133823 31133823 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:31133823C>T uc002rnr.2 - 15 2222 c.1603G>A c.(1603-1605)GTC>ATC p.V535I GALNT14_uc002rnq.2_Missense_Mutation_p.V515I|GALNT14_uc002rns.2_Missense_Mutation_p.V540I|GALNT14_uc010ymr.1_Missense_Mutation_p.V500I NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 535 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) CATGGGTTGACGACGATTTCC 0.562 17 84 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32774511 32774511 + Silent SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:32774511C>G uc010ezu.2 + 65 13241 c.13107C>G c.(13105-13107)CTC>CTG p.L4369L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4369 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AGTCCTGCCTCATCCCAGCCA 0.418 21 69 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43520275 43520275 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:43520275C>A uc002rsw.3 - 32 4868 c.4516G>T c.(4516-4518)GCC>TCC p.A1506S THADA_uc010far.2_Missense_Mutation_p.A701S|THADA_uc002rsx.3_Missense_Mutation_p.A1506S|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1506 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACCTTGAAGGCCCAAGGGAAT 0.557 20 60 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873715 48873715 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:48873715G>C uc010yol.1 + 5 2530 c.2483G>C c.(2482-2484)AGT>ACT p.S828T STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S875T|GTF2A1L_uc002rws.1_Missense_Mutation_p.S171T|GTF2A1L_uc010yom.1_Missense_Mutation_p.S137T|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S171T NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 828 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) ATACAAACTAGTGTTCCACAA 0.433 53 34 --- --- --- --- PASS GPR75 10936 broad.mit.edu 37 2 54081850 54081850 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:54081850G>T uc002rxo.3 - 2 315 c.44C>A c.(43-45)TCG>TAG p.S15* ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 15 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CACATGGAGCGAGGTGGCATT 0.522 5 149 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60687618 60687618 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:60687618C>A uc002sae.1 - 4 2657 c.2429G>T c.(2428-2430)AGC>ATC p.S810I BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.S658I|BCL11A_uc002saf.1_Missense_Mutation_p.S776I NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 810 C2H2-type 6. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACTGTACACGCTAAAAGGCAT 0.428 T IGH@ B-CLL 221 58 --- --- --- --- PASS KIAA1841 84542 broad.mit.edu 37 2 61298890 61298890 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:61298890G>T uc002saw.3 + 4 603 c.300G>T c.(298-300)CAG>CAT p.Q100H KIAA1841_uc002sax.3_Translation_Start_Site|KIAA1841_uc002say.2_Missense_Mutation_p.Q100H|KIAA1841_uc002sav.3_Missense_Mutation_p.Q100H NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 100 0 Epithelial(17;0.193) GAGAATTTCAGGAGACTCCAG 0.363 7 200 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61597467 61597467 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:61597467C>A uc002sbe.2 - 10 1262 c.1240G>T c.(1240-1242)GCT>TCT p.A414S NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 414 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGTGCTGCAGCCCAAATACAG 0.224 51 514 --- --- --- --- PASS NAGK 55577 broad.mit.edu 37 2 71300618 71300618 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:71300618G>T uc002shp.3 + 6 879 c.473G>T c.(472-474)TGG>TTG p.W158L NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.W9L|NAGK_uc002shr.2_Missense_Mutation_p.W107L NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 158 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) GCAGCCTACTGGATCGCACAC 0.512 10 374 --- --- --- --- PASS SLC4A5 57835 broad.mit.edu 37 2 74482935 74482935 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:74482935A>T uc002sko.1 - 8 994 c.992T>A c.(991-993)CTG>CAG p.L331Q SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.L331Q|SLC4A5_uc010ffc.1_Missense_Mutation_p.L331Q|SLC4A5_uc002skp.1_Missense_Mutation_p.L267Q|SLC4A5_uc002sks.1_Missense_Mutation_p.L331Q NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 331 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CACTCCTCCCAGCATGGCCGA 0.612 10 19 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90154142 90154142 + RNA SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:90154142G>C uc010fhm.2 + 20 c.2607G>C Parts of antibodies, mostly variable regions. CAGGGCCACTGGCATCCCAGC 0.557 22 35 --- --- --- --- PASS ARID5A 10865 broad.mit.edu 37 2 97217381 97217381 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:97217381G>A uc002swe.2 + 7 1216 c.1116G>A c.(1114-1116)TTG>TTA p.L372L ARID5A_uc010yuq.1_Silent_p.L320L|ARID5A_uc002swf.2_Silent_p.L208L|ARID5A_uc002swg.2_Silent_p.L320L NM_212481 NP_997646 Q03989 ARI5A_HUMAN AT rich interactive domain 5A 372 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding 0 GGGTGCTATTGGGGCCTCCTG 0.587 8 9 --- --- --- --- PASS REV1 51455 broad.mit.edu 37 2 100079080 100079080 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:100079080C>T uc002tad.2 - 3 271 c.59G>A c.(58-60)GGG>GAG p.G20E REV1_uc002tac.2_Missense_Mutation_p.G20E|REV1_uc002tae.1_5'UTR NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 20 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 AGCCATATACCCACCCTAGAA 0.353 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 31 80 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128387373 128387373 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:128387373C>A uc002top.2 + 34 4753 c.4700C>A c.(4699-4701)ACG>AAG p.T1567K MYO7B_uc002tor.1_Missense_Mutation_p.T420K NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1567 SH3 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACCATCCCCACGGTCACTAAG 0.647 11 34 --- --- --- --- PASS UBXN4 23190 broad.mit.edu 37 2 136530083 136530083 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:136530083G>C uc002tur.2 + 9 1227 c.916G>C c.(916-918)GAA>CAA p.E306Q UBXN4_uc002tus.2_Missense_Mutation_p.E72Q NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 306 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 GGCAGAAATGGAAGTCAAGAG 0.443 14 50 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138208577 138208577 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:138208577T>A uc002tva.1 + 14 3029 c.3029T>A c.(3028-3030)CTG>CAG p.L1010Q THSD7B_uc010zbj.1_Intron 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) TGTCCCAAACTGGATCTCAAG 0.373 9 11 --- --- --- --- PASS NXPH2 11249 broad.mit.edu 37 2 139429176 139429176 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:139429176T>A uc002tvi.2 - 2 111 c.111A>T c.(109-111)AAA>AAT p.K37N NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 37 II. neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) CTGGAGCATCTTTGTCTTCCC 0.512 22 57 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145161578 145161578 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:145161578C>A uc002tvu.2 - 6 1192 c.712G>T c.(712-714)GAA>TAA p.E238* ZEB2_uc002tvv.2_Nonsense_Mutation_p.E232*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.E209*|ZEB2_uc010fnp.2_Nonsense_Mutation_p.E146*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.E267* NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 238 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) AAGTTCTCTTCATTCTTCTCG 0.557 9 43 --- --- --- --- PASS ACVR2A 92 broad.mit.edu 37 2 148602722 148602722 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:148602722A>G uc002twg.2 + 2 270 c.1A>G c.(1-3)ATG>GTG p.M1V ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.M1V NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 1 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) CCTCGGGAAAATGGGAGCTGC 0.592 16 46 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152580773 152580773 + Splice_Site SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:152580773C>A uc010fnx.2 - 8 803 c.612_splice c.e8+1 p.K204_splice NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGACCCTTACCTTGCTGAAC 0.458 8 24 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162865781 162865781 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:162865781C>A uc002ubz.2 - 21 2418 c.1857G>T c.(1855-1857)GTG>GTT p.V619V DPP4_uc010fpb.2_Silent_p.V295V NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 619 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) GTTTGTTGTCCACAAATCCCA 0.368 5 63 --- --- --- --- PASS GCA 25801 broad.mit.edu 37 2 163212958 163212958 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:163212958G>T uc002ucg.2 + 4 449 c.273G>T c.(271-273)TTG>TTT p.L91F GCA_uc010zcu.1_Missense_Mutation_p.L72F NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 91 EF-hand 2. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 CCTTCAGTTTGGAAACCTGCA 0.299 5 57 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163693137 163693137 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:163693137C>A uc002uch.1 - 2 429 c.217G>T c.(217-219)GAG>TAG p.E73* KCNH7_uc002uci.2_Nonsense_Mutation_p.E73* NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 73 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) CTCTTGGTCTCGGGTCCATGG 0.483 13 22 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167297992 167297992 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:167297992C>G uc002udu.1 - 14 2198 c.2071G>C c.(2071-2073)GAG>CAG p.E691Q SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 691 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 CACAAGGTCTCTACCCACTCT 0.448 17 52 --- --- --- --- PASS SCRN3 79634 broad.mit.edu 37 2 175265857 175265857 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:175265857A>G uc002uiq.2 + 4 569 c.481A>G c.(481-483)AGG>GGG p.R161G SCRN3_uc010zen.1_Missense_Mutation_p.R154G|SCRN3_uc010zeo.1_Intron NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 161 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) GATAGCTGATAGGAATGAAGC 0.398 16 35 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098944 178098944 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:178098944C>T uc002ulh.3 - 2 656 c.101G>A c.(100-102)CGA>CAA p.R34Q NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 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) AAATACTTCTCGACTTACTCC 0.373 Mis NSCLC|HNSCC HNSCC(56;0.16) 12 34 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179582536 179582536 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:179582536C>T uc010zfg.1 - 84 21557 c.21333G>A c.(21331-21333)GCG>GCA p.A7111A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3772A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) GAAGTTTGCGCGCTGTAAAGA 0.378 8 27 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179591833 179591833 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:179591833G>T uc010zfg.1 - 66 16751 c.16527C>A c.(16525-16527)ACC>ACA p.T5509T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2170T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6436 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) CTATAACCTTGGTACTGCAGC 0.418 5 86 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179604759 179604759 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:179604759G>T uc010zfh.1 - 46 12912 c.12688C>A c.(12688-12690)CGG>AGG p.R4230R TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.R4163R|TTN_uc010zfj.1_Silent_p.R4038R|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 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) TGCAAAGCCCGGCAGATTTGA 0.483 21 39 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179718255 179718255 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:179718255G>T uc002unf.1 - 10 1489 c.1432C>A c.(1432-1434)CAG>AAG p.Q478K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 478 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) TTAAACTGCTGGTGGAGAATT 0.428 36 58 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185798417 185798417 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:185798417C>G uc002uph.2 + 3 937 c.343C>G c.(343-345)CAA>GAA p.Q115E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 115 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AAAGGCACTCCAACGCCTGCA 0.383 13 30 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185800721 185800721 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:185800721G>T uc002uph.2 + 4 1192 c.598G>T c.(598-600)GTT>TTT p.V200F NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 200 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AAATAACCAAGTTGGGGATCA 0.403 17 39 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190719768 190719768 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:190719768C>A uc002urh.3 + 9 2299 c.1770C>A c.(1768-1770)CTC>CTA p.L590L PMS1_uc010zga.1_Silent_p.L551L|PMS1_uc010zgb.1_Silent_p.L529L|PMS1_uc002urk.3_Silent_p.L551L|PMS1_uc002uri.3_Silent_p.L590L|PMS1_uc010zgc.1_Silent_p.L414L|PMS1_uc010zgd.1_Silent_p.L414L|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.L551L|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.L375L|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.L258L NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 590 HMG box. mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CTCAGTTTCTCATAGAAAATC 0.373 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 6 70 --- --- --- --- PASS MFSD6 54842 broad.mit.edu 37 2 191301381 191301381 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:191301381C>A uc002urz.2 + 3 950 c.626C>A c.(625-627)TCA>TAA p.S209* NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 209 transmembrane transport integral to membrane ovary(2) 2 CTCAATGTCTCAGACACCGTT 0.428 5 67 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950685 198950685 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:198950685C>T uc010fsp.2 + 2 2735 c.2444C>T c.(2443-2445)CCA>CTA p.P815L PLCL1_uc002uuv.3_Missense_Mutation_p.P736L 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; 815 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TATACGATACCATTTGAATGT 0.438 14 50 --- --- --- --- PASS FAM134A 79137 broad.mit.edu 37 2 220045906 220045906 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:220045906C>T uc002vjw.3 + 6 899 c.763C>T c.(763-765)CAT>TAT p.H255Y FAM134A_uc010fwc.2_Missense_Mutation_p.H48Y|FAM134A_uc002vjx.2_Missense_Mutation_p.H48Y NM_024293 NP_077269 Q8NC44 F134A_HUMAN hypothetical protein LOC79137 255 endoplasmic reticulum|integral to membrane ovary(1)|central_nervous_system(1) 2 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAATGCCCTGCATCACAAACA 0.562 29 69 --- --- --- --- PASS IRS1 3667 broad.mit.edu 37 2 227662338 227662338 + Missense_Mutation SNP G A A rs147944503 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:227662338G>A uc002voh.3 - 1 1169 c.1117C>T c.(1117-1119)CGC>TGC p.R373C NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 373 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGATGGAGCGGCTGTGGTTG 0.697 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 18 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234863887 234863887 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:234863887G>T uc002vvh.2 + 11 1395 c.1355G>T c.(1354-1356)CGA>CTA p.R452L TRPM8_uc010fyj.2_Missense_Mutation_p.R140L NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 452 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AATGACCGCCGATGGGAGGTA 0.502 21 35 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238250716 238250716 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:238250716A>G uc002vwl.2 - 37 8042 c.7757T>C c.(7756-7758)GTT>GCT p.V2586A COL6A3_uc002vwo.2_Missense_Mutation_p.V2380A|COL6A3_uc010znj.1_Missense_Mutation_p.V1979A|COL6A3_uc002vwj.2_5'UTR NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2586 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCCAAGCAAACATGACACGT 0.453 9 18 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 3030128 3030128 + Silent SNP T C C rs78171908 by1000genomes TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:3030128T>C uc003bpc.2 + 13 1679 c.1458T>C c.(1456-1458)GCT>GCC p.A486A CNTN4_uc003bpb.1_Silent_p.A158A|CNTN4_uc003bpd.1_Silent_p.A486A|CNTN4_uc003bpe.2_Silent_p.A158A|CNTN4_uc003bpf.2_Silent_p.A158A NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 486 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTGGAACTGCTAGCAGTACTG 0.378 11 22 --- --- --- --- PASS LRRN1 57633 broad.mit.edu 37 3 3886844 3886844 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:3886844C>G uc003bpt.3 + 2 1280 c.519C>G c.(517-519)CAC>CAG p.H173Q SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 173 LRR 5.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TAAGGCTCCACCTGAACTCCA 0.398 27 33 --- --- --- --- PASS ZNF621 285268 broad.mit.edu 37 3 40574078 40574078 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:40574078G>T uc003ckm.2 + 5 1033 c.817G>T c.(817-819)GGT>TGT p.G273C ZNF621_uc003ckn.2_Missense_Mutation_p.G273C|ZNF621_uc003cko.2_Missense_Mutation_p.G238C|ZNF621_uc011aze.1_Missense_Mutation_p.G265C NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 273 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) GAAAGCTTTCGGTTGTAGGTC 0.443 14 16 --- --- --- --- PASS CCR5 1234 broad.mit.edu 37 3 46415167 46415167 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:46415167C>A uc003cpo.3 + 3 896 c.774C>A c.(772-774)AAC>AAA p.N258K CCR5_uc010hjd.2_Missense_Mutation_p.N258K NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 258 Helical; Name=6; (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TTCTCCTGAACACCTTCCAGG 0.468 65 105 --- --- --- --- PASS LAMB2 3913 broad.mit.edu 37 3 49166717 49166717 + Missense_Mutation SNP C A A rs148333147 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:49166717C>A uc003cwe.2 - 12 1858 c.1559G>T c.(1558-1560)CGC>CTC p.R520L LAMB2_uc003cwf.1_Missense_Mutation_p.R520L NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 520 Laminin EGF-like 4. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTCACAGGGGCGGCAGCCGAG 0.622 12 10 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51265418 51265418 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:51265418G>T uc011bds.1 + 17 1569 c.1546G>T c.(1546-1548)GAC>TAC p.D516Y NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 516 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TACAGCAAAGGACAAAGGGGA 0.428 16 15 --- --- --- --- PASS SPCS1 28972 broad.mit.edu 37 3 52740666 52740666 + Nonsense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:52740666A>T uc011bei.1 + 2 449 c.244A>T c.(244-246)AAG>TAG p.K82* GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank NM_014041 NP_054760 Q9Y6A9 SPCS1_HUMAN signal peptidase complex subunit 1 homolog 82 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to endoplasmic reticulum membrane|microsome|signal peptidase complex peptidase activity 0 BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469) CCAGGATTACAAGGGCCAGAA 0.478 15 19 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64636807 64636807 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:64636807C>A uc003dmg.2 - 9 1381 c.1349G>T c.(1348-1350)TGT>TTT p.C450F ADAMTS9_uc011bfo.1_Missense_Mutation_p.C422F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.C279F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.C450F NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 450 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTCTTCTTTACATTTGTTGTT 0.408 6 33 --- --- --- --- PASS CRYBG3 131544 broad.mit.edu 37 3 97596805 97596805 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:97596805G>T uc003drx.2 + 1 987 c.923G>T c.(922-924)GGT>GTT p.G308V NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 GCCAGATTTGGTGGAATTTTT 0.373 15 55 --- --- --- --- PASS OR5K1 26339 broad.mit.edu 37 3 98189081 98189081 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:98189081A>G uc003dsm.2 + 1 661 c.661A>G c.(661-663)ATT>GTT p.I221V NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TTATCTCTATATTCTTCTTAC 0.348 19 65 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100523636 100523636 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:100523636C>A uc003dun.2 - 20 1832 c.1747G>T c.(1747-1749)GCT>TCT p.A583S ABI3BP_uc003duj.2_Missense_Mutation_p.A138S|ABI3BP_uc003duk.2_Missense_Mutation_p.A267S|ABI3BP_uc003dul.2_Missense_Mutation_p.A388S|ABI3BP_uc011bhd.1_Missense_Mutation_p.A537S|ABI3BP_uc003dum.2_5'UTR NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 583 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 AAGCATTTACCAGGTGTGGTG 0.418 28 34 --- --- --- --- PASS FBXO40 51725 broad.mit.edu 37 3 121345583 121345583 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:121345583G>T uc003eeg.2 + 4 2166 c.1956G>T c.(1954-1956)TGG>TGT p.W652C NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 652 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) TCAAGAGCTGGGAGTTTAATG 0.453 9 207 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124281726 124281726 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:124281726G>T uc003ehg.2 + 34 5093 c.4966G>T c.(4966-4968)GAC>TAC p.D1656Y KALRN_uc003ehi.2_Missense_Mutation_p.D29Y NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1656 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGTCCTCCAGGACTTCAGTGC 0.493 4 13 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124738123 124738123 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:124738123G>T uc003ehs.3 - 5 1639 c.1571C>A c.(1570-1572)CCA>CAA p.P524Q HEG1_uc011bke.1_Missense_Mutation_p.P524Q NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 524 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane calcium ion binding ovary(2) 2 TTCTCCACGTGGTGCTGATGA 0.443 5 99 --- --- --- --- PASS DBR1 51163 broad.mit.edu 37 3 137880959 137880959 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:137880959C>A uc003erv.2 - 8 1543 c.1407G>T c.(1405-1407)AGG>AGT p.R469S DBR1_uc003eru.2_Missense_Mutation_p.R418S|DBR1_uc003ert.2_Missense_Mutation_p.R237S NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 469 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 CTGGCAAGATCCTGACATCAG 0.443 47 96 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140122641 140122641 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:140122641G>T uc003etn.2 + 3 593 c.403G>T c.(403-405)GAG>TAG p.E135* CLSTN2_uc003etm.2_Nonsense_Mutation_p.E135* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 135 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGGGCCCCACGAGACAGCCTG 0.592 HNSCC(16;0.037) 22 77 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148586807 148586807 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:148586807C>A uc003ewm.2 + 3 302 c.250C>A c.(250-252)CAA>AAA p.Q84K NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 84 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGCCTTGGATCAAAATAAAAT 0.418 57 56 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151161171 151161171 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:151161171G>T uc011bod.1 - 5 5564 c.5564C>A c.(5563-5565)ACT>AAT p.T1855N IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1855 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCACCCCAAGTGCCTACAAT 0.488 20 71 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157099055 157099055 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:157099055G>T uc003fbj.1 - 7 1334 c.1017C>A c.(1015-1017)TCC>TCA p.S339S VEPH1_uc003fbk.1_Silent_p.S339S|VEPH1_uc010hvu.1_Silent_p.S339S NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 339 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCAAGATTGAGGAGAAGGTGT 0.512 7 136 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 157841731 157841731 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:157841731G>C uc003fbt.2 + 3 382 c.271G>C c.(271-273)GGG>CGG p.G91R RSRC1_uc011bou.1_Missense_Mutation_p.G91R|RSRC1_uc003fbu.1_Missense_Mutation_p.G91R|RSRC1_uc003fbv.2_Missense_Mutation_p.G91R NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 91 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGGGGTCGAGGGAAATCCTA 0.343 92 74 --- --- --- --- PASS IQCJ 654502 broad.mit.edu 37 3 158983023 158983023 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:158983023G>T uc003fcp.1 + 5 416 c.311G>T c.(310-312)GGG>GTG p.G104V SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.G77V NM_001042705 NP_001036170 Q1A5X6 IQCJ_HUMAN IQ motif containing J isoform CaMBPv1 104 0 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) GCCCCTGTTGGGAAGATTCAT 0.448 8 267 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164709970 164709970 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:164709970G>T uc003fei.2 - 43 5040 c.4978C>A c.(4978-4980)CAT>AAT p.H1660N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1660 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) CTTACTGTATGGTAGTCAAAC 0.353 HNSCC(35;0.089) 7 217 --- --- --- --- PASS MYNN 55892 broad.mit.edu 37 3 169501285 169501285 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:169501285G>T uc003fft.2 + 6 1849 c.1420G>T c.(1420-1422)GGT>TGT p.G474C MYNN_uc011bpm.1_Missense_Mutation_p.G360C|MYNN_uc003ffu.2_Missense_Mutation_p.G474C|MYNN_uc003ffv.2_Missense_Mutation_p.G201C|MYNN_uc010hwo.2_Missense_Mutation_p.G474C|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 474 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 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;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) ATACATATGTGGTATTTGTGG 0.333 6 151 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171406667 171406667 + Splice_Site SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:171406667C>G uc003fhs.2 - 14 1455 c.1339_splice c.e14-1 p.V447_splice PLD1_uc003fht.2_Splice_Site_p.V447_splice NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTCTCATCACCTTGAGAGGGA 0.438 4 60 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171427430 171427430 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:171427430G>A uc003fhs.2 - 10 1097 c.981C>T c.(979-981)ATC>ATT p.I327I PLD1_uc003fht.2_Silent_p.I327I NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 327 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CATGTTTCTGGATGAATTCTT 0.368 23 123 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180327705 180327705 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:180327705G>T uc003fkk.2 + 12 1820 c.1688G>T c.(1687-1689)AGG>ATG p.R563M TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.R563M NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 563 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAGCAGGATAGGTTACAGTAT 0.398 9 374 --- --- --- --- PASS ATP11B 23200 broad.mit.edu 37 3 182553841 182553841 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:182553841C>T uc003flb.2 + 5 591 c.334C>T c.(334-336)CGG>TGG p.R112W ATP11B_uc003fla.2_Missense_Mutation_p.R112W NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 112 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AGATTGGTTACGGCATAACTC 0.308 30 72 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184294818 184294818 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:184294818C>A uc003foz.2 + 5 1638 c.1201C>A c.(1201-1203)CGG>AGG p.R401R NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 401 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GTTTGTGCCTCGGCAGCTGGG 0.627 5 161 --- --- --- --- PASS MSX1 4487 broad.mit.edu 37 4 4864840 4864840 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:4864840T>C uc003gif.2 + 2 1117 c.882T>C c.(880-882)CAT>CAC p.H294H NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 288 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ACACGGCCCATGTGGGCTACA 0.697 3 7 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8607752 8607752 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:8607752G>A uc003glm.2 + 5 872 c.746G>A c.(745-747)GGC>GAC p.G249D CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.G112D|CPZ_uc003glo.2_Missense_Mutation_p.G238D|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 249 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 AACATTCATGGCAACGAGGTG 0.602 9 16 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42487624 42487624 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:42487624T>A uc003gwr.2 - 25 2445 c.2213A>T c.(2212-2214)AAT>ATT p.N738I ATP8A1_uc003gwq.2_Intron|ATP8A1_uc003gws.2_Missense_Mutation_p.N723I NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 738 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) AGCAAAATCATTCTCTTTCCG 0.408 14 15 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79403008 79403008 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:79403008G>C uc003hlb.2 + 57 8934 c.8494G>C c.(8494-8496)GCA>CCA p.A2832P NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2827 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CTCTACTTTCGCATCTGTCTG 0.488 50 88 --- --- --- --- PASS SMARCAD1 56916 broad.mit.edu 37 4 95162117 95162117 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:95162117T>A uc003htc.3 + 6 920 c.665T>A c.(664-666)TTT>TAT p.F222Y SMARCAD1_uc003htb.3_Missense_Mutation_p.F222Y|SMARCAD1_uc003htd.3_Missense_Mutation_p.F222Y|SMARCAD1_uc010ila.2_Missense_Mutation_p.F85Y NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 222 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GAAGATGAATTTAATGATGAT 0.358 8 11 --- --- --- --- PASS MANBA 4126 broad.mit.edu 37 4 103644062 103644062 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:103644062T>C uc003hwg.2 - 4 615 c.515A>G c.(514-516)CAG>CGG p.Q172R MANBA_uc011ces.1_Intron NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 172 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TTCACCCTTCTGCACAAGTGG 0.512 19 19 --- --- --- --- PASS NHEDC1 150159 broad.mit.edu 37 4 103822328 103822328 + Silent SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:103822328G>C uc003hww.2 - 12 1616 c.1494C>G c.(1492-1494)CGC>CGG p.R498R NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Silent_p.R271R NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 498 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) GATCATAATGGCGTGTAAGCA 0.378 5 127 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111482595 111482595 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:111482595G>T uc003iab.3 + 20 3097 c.2755G>T c.(2755-2757)GGA>TGA p.G919* NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 919 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCCACAAGCTGGAGCAGGAGA 0.358 4 28 --- --- --- --- PASS UGT8 7368 broad.mit.edu 37 4 115585164 115585164 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:115585164G>T uc003ibs.2 + 3 1358 c.836G>T c.(835-837)TGG>TTG p.W279L UGT8_uc003ibt.2_Missense_Mutation_p.W279L|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 279 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) CTCCAAAGATGGGTAAATGGT 0.388 34 47 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123317446 123317446 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:123317446T>C uc003ieo.2 + 7 870 c.638T>C c.(637-639)GTT>GCT p.V213A ADAD1_uc003iep.2_Missense_Mutation_p.V213A|ADAD1_uc003ieq.2_Missense_Mutation_p.V195A NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 213 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TCACAGATCGTTAAAGAAAGA 0.308 13 20 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393684 164393684 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:164393684G>A uc003iqp.3 - 1 1364 c.1203C>T c.(1201-1203)TTC>TTT p.F401F NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 401 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGAGCTGATCGAATGCTCTAG 0.488 11 14 --- --- --- --- PASS MORF4 10934 broad.mit.edu 37 4 174537470 174537470 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:174537470A>T uc011cke.1 - 1 325 c.325T>A c.(325-327)TAT>AAT p.Y109N NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TAATTTGCATAGTCCTCAAGA 0.393 57 75 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176622806 176622806 + Silent SNP C T T rs144181937 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:176622806C>T uc003iuf.2 - 2 954 c.150G>A c.(148-150)GCG>GCA p.A50A GPM6A_uc011ckj.1_Silent_p.A43A|GPM6A_uc003iug.2_Silent_p.A50A|GPM6A_uc003iuh.2_Silent_p.A39A NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 50 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TTCCAGAAAGCGCTTCATGAC 0.493 26 44 --- --- --- --- PASS NSUN2 54888 broad.mit.edu 37 5 6620317 6620317 + Silent SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:6620317G>C uc003jdu.2 - 7 782 c.717C>G c.(715-717)GTC>GTG p.V239V NSUN2_uc003jdt.2_Silent_p.V3V|NSUN2_uc011cmk.1_Silent_p.V204V|NSUN2_uc003jdv.2_Silent_p.V3V NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 239 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 CATCATGGTTGACCACCATGA 0.507 11 83 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10382034 10382034 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:10382034G>T uc003jet.1 + 4 496 c.313G>T c.(313-315)GGA>TGA p.G105* MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 105 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TGCATGGTTGGGAGTTGTTCC 0.363 7 170 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11159741 11159741 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:11159741C>T uc003jfa.1 - 12 2251 c.2106G>A c.(2104-2106)CGG>CGA p.R702R CTNND2_uc010itt.2_Silent_p.R611R|CTNND2_uc011cmy.1_Silent_p.R365R|CTNND2_uc011cmz.1_Silent_p.R269R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.R269R NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 702 ARM 5. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCTGTATTTTCCGATCATCCT 0.552 44 58 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26902777 26902777 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:26902777G>T uc003jgs.1 - 7 1230 c.1061C>A c.(1060-1062)CCT>CAT p.P354H NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 354 Cadherin 3.|Extracellular (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 TCGTGGATCAGGGTGAGTGTT 0.358 18 29 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31521266 31521266 + Missense_Mutation SNP T G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:31521266T>G uc003jhg.2 - 5 1270 c.911A>C c.(910-912)GAA>GCA p.E304A RNASEN_uc003jhh.2_Missense_Mutation_p.E304A|RNASEN_uc003jhi.2_Missense_Mutation_p.E304A|RNASEN_uc010iui.1_Intron NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 304 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 GTAGGACCTTTCCAGAGATGG 0.413 58 164 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41018458 41018458 + Silent SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:41018458C>G uc003jmj.3 - 27 3238 c.2748G>C c.(2746-2748)CTG>CTC p.L916L HEATR7B2_uc003jmi.3_Silent_p.L471L NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 916 binding ovary(6)|central_nervous_system(2) 8 TATCATTTGTCAGCACTTTCG 0.403 11 18 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45267343 45267343 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:45267343A>T uc003jok.2 - 7 1656 c.1631T>A c.(1630-1632)CTG>CAG p.L544Q NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 544 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TCCTTTGGTCAGCAGGCAAAT 0.393 18 48 --- --- --- --- PASS GPBP1 65056 broad.mit.edu 37 5 56557016 56557016 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:56557016G>T uc003jrh.3 + 11 2444 c.1170G>T c.(1168-1170)AAG>AAT p.K390N GPBP1_uc010iwg.2_Missense_Mutation_p.K410N|GPBP1_uc003jri.3_Missense_Mutation_p.K219N|GPBP1_uc003jrj.3_Missense_Mutation_p.K382N|GPBP1_uc003jrk.3_Missense_Mutation_p.K397N|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) GATTGTTAAAGGAAATGGGCT 0.358 5 69 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61923053 61923053 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:61923053G>A uc003jtc.2 + 30 3026 c.2836G>A c.(2836-2838)GAG>AAG p.E946K IPO11_uc011cqr.1_Missense_Mutation_p.E986K|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Missense_Mutation_p.E65K NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 946 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GGCACAGCAGGAGATGCTAGG 0.502 14 45 --- --- --- --- PASS SFRS12 140890 broad.mit.edu 37 5 65470820 65470820 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:65470820A>G uc003juo.2 + 11 1843 c.1183A>G c.(1183-1185)ACA>GCA p.T395A SFRS12_uc003jun.2_Missense_Mutation_p.T511A|SFRS12_uc010iwy.2_Missense_Mutation_p.T395A NM_139168 NP_631907 Q8WXA9 SREK1_HUMAN splicing factor, arginine/serine-rich 12 isoform 395 Arg/Glu/Lys/Ser-rich. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding 0 Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234) Lung(70;0.00449) ATCGCCAAGAACATCAAAAAC 0.393 6 20 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82841392 82841392 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:82841392G>T uc003kii.3 + 9 9658 c.9302G>T c.(9301-9303)GGA>GTA p.G3101V VCAN_uc003kij.3_Missense_Mutation_p.G2114V|VCAN_uc010jau.2_Missense_Mutation_p.G1347V|VCAN_uc003kik.3_Missense_Mutation_p.G360V|VCAN_uc003kil.3_Missense_Mutation_p.G1765V NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3101 EGF-like 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCCTTAACGGAGGCACCTGT 0.458 82 152 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82875859 82875859 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:82875859G>T uc003kii.3 + 14 10297 c.9941G>T c.(9940-9942)CGT>CTT p.R3314L VCAN_uc003kij.3_Missense_Mutation_p.R2327L|VCAN_uc010jau.2_Missense_Mutation_p.R1560L|VCAN_uc003kik.3_Missense_Mutation_p.R573L|VCAN_uc003kil.3_Missense_Mutation_p.R1978L NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3314 Sushi. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATGAAACCTCGTTATGAAATC 0.423 19 64 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90074906 90074906 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:90074906C>A uc003kju.2 + 64 13170 c.13074C>A c.(13072-13074)CTC>CTA p.L4358L GPR98_uc003kjt.2_Silent_p.L2064L|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4358 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGTGGAACTCCAGGGAAGGT 0.398 16 27 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127614475 127614475 + Silent SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:127614475G>C uc003kuu.2 - 57 7636 c.7197C>G c.(7195-7197)TCC>TCG p.S2399S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2399 TB 9. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCGACTACTGGATGCCATTT 0.517 4 18 --- --- --- --- PASS AFF4 27125 broad.mit.edu 37 5 132240074 132240074 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:132240074C>G uc003kyd.2 - 6 1481 c.1073G>C c.(1072-1074)GGC>GCC p.G358A AFF4_uc011cxk.1_Missense_Mutation_p.G36A|AFF4_uc003kye.1_Missense_Mutation_p.G358A NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 358 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCTCCAGTGCCAAAATTGGA 0.289 5 17 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188634 140188634 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:140188634C>T uc003lhi.2 + 1 1963 c.1862C>T c.(1861-1863)CCG>CTG p.P621L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.P621L|PCDHA4_uc011daa.1_Missense_Mutation_p.P621L NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 621 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCATCCCGTTCCGCGTG 0.672 10 58 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209210 140209210 + Missense_Mutation SNP G A A rs138462086 byFrequency TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:140209210G>A uc003lho.2 + 1 1561 c.1534G>A c.(1534-1536)GCG>ACG p.A512T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.A512T|PCDHA6_uc011dab.1_Missense_Mutation_p.A512T NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 512 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGTGCACGCGGAGAGCGG 0.697 8 36 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140222505 140222505 + Silent SNP C T T rs147542523 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:140222505C>T uc003lhs.2 + 1 1599 c.1599C>T c.(1597-1599)TTC>TTT p.F533F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F533F NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 533 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGCAGTTCCAGGTGAGCG 0.672 6 73 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140596009 140596009 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:140596009C>A uc003lja.1 + 1 2501 c.2314C>A c.(2314-2316)CCC>ACC p.P772T NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 772 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGATTATCCCCAACTTCCC 0.493 29 63 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140732021 140732021 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:140732021G>A uc003ljo.1 + 1 2194 c.2194G>A c.(2194-2196)GGG>AGG p.G732R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.G732R|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 732 Cytoplasmic (Potential). 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) CTCCAAGTCTGGGCCCGGGGT 0.547 34 67 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140744378 140744378 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:140744378G>T uc003lju.1 + 1 481 c.481G>T c.(481-483)GAT>TAT p.D161Y 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_uc011das.1_Missense_Mutation_p.D161Y NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 161 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGGATGCGGATGTGGGTGT 0.507 10 23 --- --- --- --- PASS FAM114A2 10827 broad.mit.edu 37 5 153406071 153406071 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:153406071G>C uc003lvb.2 - 8 1389 c.801C>G c.(799-801)ATC>ATG p.I267M FAM114A2_uc003lvc.2_Missense_Mutation_p.I267M|FAM114A2_uc003lvd.2_Missense_Mutation_p.I267M|FAM114A2_uc003lve.2_Missense_Mutation_p.I83M|FAM114A2_uc011dda.1_Missense_Mutation_p.I197M NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 267 purine nucleotide binding 0 GAGAATTAAGGATAGATTTCA 0.318 10 12 --- --- --- --- PASS GEMIN5 25929 broad.mit.edu 37 5 154308114 154308114 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:154308114G>T uc003lvx.3 - 6 970 c.887C>A c.(886-888)CCA>CAA p.P296Q GEMIN5_uc011ddk.1_Missense_Mutation_p.P295Q NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 296 WD 5. ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGCTGTGTTGGTTGATTGCT 0.428 7 139 --- --- --- --- PASS ITK 3702 broad.mit.edu 37 5 156608051 156608051 + Silent SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:156608051T>A uc003lwo.1 + 1 145 c.63T>A c.(61-63)ACT>ACA p.T21T NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 21 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) AGAGAAGAACTTCTCCCTCGA 0.438 T SYK peripheral T-cell lymphoma 19 56 --- --- --- --- PASS FBXW11 23291 broad.mit.edu 37 5 171297857 171297857 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:171297857C>G uc003mbm.1 - 10 1654 c.1283G>C c.(1282-1284)TGG>TCG p.W428S FBXW11_uc011dey.1_Missense_Mutation_p.W396S|FBXW11_uc003mbl.1_Missense_Mutation_p.W415S|FBXW11_uc003mbn.1_Missense_Mutation_p.W394S NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 428 WD 5. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCAATATCCCAGAGCCTTGA 0.408 15 53 --- --- --- --- PASS SH3PXD2B 285590 broad.mit.edu 37 5 171833301 171833301 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr5:171833301C>A uc003mbr.2 - 3 383 c.212G>T c.(211-213)CGG>CTG p.R71L SH3PXD2B_uc003mbs.1_Missense_Mutation_p.R71L NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 71 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGGATGATCCGCTGCTTGGG 0.512 60 134 --- --- --- --- PASS CD83 9308 broad.mit.edu 37 6 14118260 14118260 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:14118260G>T uc003nbi.2 + 2 295 c.117G>T c.(115-117)TGG>TGT p.W39C CD83_uc003nbh.2_Missense_Mutation_p.W39C NM_004233 NP_004224 Q01151 CD83_HUMAN CD83 antigen isoform a 39 Extracellular (Potential).|Ig-like V-type. defense response|humoral immune response|signal transduction integral to plasma membrane 0 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) CCGCCCCCTGGGATCCGCAGG 0.622 4 12 --- --- --- --- PASS ZNF165 7718 broad.mit.edu 37 6 28053949 28053949 + Splice_Site SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:28053949G>A uc003nkg.2 + 4 1496 c.412_splice c.e4-1 p.V138_splice ZNF165_uc003nkh.2_Splice_Site_p.V138_splice|ZNF165_uc003nki.3_Splice_Site_p.V138_splice NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATTTTTCTCAGGTTCAAGCCC 0.413 16 51 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28543760 28543760 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:28543760G>T uc003nlo.2 - 3 1340 c.722C>A c.(721-723)ACT>AAT p.T241N NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 241 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 AAATATCTTAGTATTATTACT 0.353 14 40 --- --- --- --- PASS GNL1 2794 broad.mit.edu 37 6 30515028 30515028 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:30515028G>A uc003nqh.2 - 10 2330 c.1302C>T c.(1300-1302)ATC>ATT p.I434I GNL1_uc011dmi.1_Silent_p.I231I|GNL1_uc011dmj.1_Silent_p.I432I|GNL1_uc011dmk.1_Silent_p.I89I NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 434 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 GGATCTGGGCGATAGGGTAGA 0.602 37 83 --- --- --- --- PASS SLC44A4 80736 broad.mit.edu 37 6 31842560 31842560 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:31842560C>T uc010jti.2 - 6 472 c.406G>A c.(406-408)GTT>ATT p.V136I SLC44A4_uc011dol.1_Missense_Mutation_p.V60I|SLC44A4_uc011dom.1_Intron NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 136 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) ACTTCCCCAACAGTCTGTGAG 0.512 7 45 --- --- --- --- PASS HLA-DMB 3109 broad.mit.edu 37 6 32905190 32905190 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:32905190C>A uc003ocl.1 - 3 614 c.381G>T c.(379-381)ACG>ACT p.T127T HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'UTR|HLA-DMB_uc010jue.1_5'UTR|HLA-DMB_uc010juf.1_5'UTR|HLA-DMB_uc011dql.1_Silent_p.T127T NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 127 Lumenal (Potential).|Ig-like C1-type.|Beta-2. 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 integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 CAGGCTCCCTCGTGTTAAAAG 0.512 5 121 --- --- --- --- PASS TCP11 6954 broad.mit.edu 37 6 35090020 35090020 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:35090020T>A uc003okd.2 - 5 672 c.491A>T c.(490-492)CAT>CTT p.H164L TCP11_uc003ojz.1_Missense_Mutation_p.H89L|TCP11_uc003oka.2_Missense_Mutation_p.H89L|TCP11_uc003okb.2_Missense_Mutation_p.H88L|TCP11_uc003okc.2_Missense_Mutation_p.H88L|TCP11_uc011dsu.1_Missense_Mutation_p.H146L|TCP11_uc011dsv.1_Missense_Mutation_p.H113L|TCP11_uc011dsw.1_Missense_Mutation_p.H118L NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 151 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 CAGGGCCCCATGTTCTGCCTC 0.488 29 49 --- --- --- --- PASS C6orf130 221443 broad.mit.edu 37 6 41037854 41037854 + Silent SNP C A A rs144524444 byFrequency TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:41037854C>A uc003opm.2 - 4 376 c.204G>T c.(202-204)GTG>GTT p.V68V UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Silent_p.V68V|C6orf130_uc003opn.2_Silent_p.V68V|C6orf130_uc010jxh.1_Silent_p.V68V|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank NM_145063 NP_659500 Q9Y530 CF130_HUMAN hypothetical protein LOC221443 68 Macro. 0 Ovarian(28;0.0418)|Colorectal(47;0.196) TCAGAACAGCCACTTCTCCAG 0.313 15 38 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43155591 43155591 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:43155591G>A uc003ouk.2 + 7 1797 c.1722G>A c.(1720-1722)CTG>CTA p.L574L CUL9_uc003ouj.1_Silent_p.L464L|CUL9_uc003oul.2_Silent_p.L574L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.L32L NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 574 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 AGTATGGGCTGCTGTCTAATG 0.522 18 50 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43306887 43306887 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:43306887G>C uc003oux.2 - 10 4927 c.4849C>G c.(4849-4851)CCT>GCT p.P1617A ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1617 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTGTTCAAAGGAGAAGTAGAA 0.473 34 68 --- --- --- --- PASS SUPT3H 8464 broad.mit.edu 37 6 44921148 44921148 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:44921148C>G uc003oxo.2 - 11 1051 c.733G>C c.(733-735)GAT>CAT p.D245H SUPT3H_uc003oxn.1_Missense_Mutation_p.D234H|SUPT3H_uc011dvv.1_Missense_Mutation_p.D82H|SUPT3H_uc003oxp.2_Missense_Mutation_p.D234H|SUPT3H_uc011dvw.1_Missense_Mutation_p.D148H NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 316 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 AGAGCCAGATCCACTAACTAG 0.433 12 32 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49604511 49604511 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:49604511G>A uc003ozk.3 - 1 77 c.15C>T c.(13-15)TTC>TTT p.F5F RHAG_uc010jzl.2_Silent_p.F5F|RHAG_uc010jzm.2_Silent_p.F5F NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 5 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) CCATGAGAGGGAATGTGAACC 0.438 43 44 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51882299 51882299 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:51882299G>T uc003pah.1 - 34 5785 c.5509C>A c.(5509-5511)CTC>ATC p.L1837I PKHD1_uc003pai.2_Missense_Mutation_p.L1837I NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1837 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAAATGTAGAGGTAAGGCCAC 0.498 8 271 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54805608 54805608 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:54805608C>A uc003pck.2 + 5 1955 c.1839C>A c.(1837-1839)ACC>ACA p.T613T NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 613 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) AAATGCACACCTTGCAGGTTC 0.428 6 94 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57398208 57398208 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:57398208G>A uc003pdx.2 + 10 998 c.911G>A c.(910-912)GGA>GAA p.G304E NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 304 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CTTTGTCATGGAGGCCGAATG 0.393 26 258 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70873266 70873266 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:70873266C>A uc003pfc.1 + 36 2495 c.2378C>A c.(2377-2379)CCC>CAC p.P793H COL19A1_uc010kam.1_Missense_Mutation_p.P689H NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 793 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CATCCTGGTCCCACAGGAGCA 0.448 5 31 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79672925 79672925 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:79672925C>A uc003pir.2 - 30 3650 c.3424G>T c.(3424-3426)GGT>TGT p.G1142C PHIP_uc003piq.2_Missense_Mutation_p.G166C|PHIP_uc011dyp.1_Missense_Mutation_p.G1141C|PHIP_uc003pio.3_Missense_Mutation_p.G28C NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1142 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTGCACTCACCATCAGTTAAA 0.383 6 203 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90440607 90440607 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:90440607C>T uc003pnn.1 - 35 5094 c.4978G>A c.(4978-4980)GCA>ACA p.A1660T NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1660 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCTTTTCGTGCCAAAAGGGCT 0.403 37 33 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97562194 97562194 + Missense_Mutation SNP G T T rs143481422 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:97562194G>T uc010kcm.1 + 7 1635 c.1163G>T c.(1162-1164)CGG>CTG p.R388L KLHL32_uc003poy.2_Missense_Mutation_p.R388L|KLHL32_uc011ead.1_Missense_Mutation_p.R352L|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.R319L|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 388 Kelch 2. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) AAAAACTGCCGGGAGCATTTT 0.562 12 7 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132206132 132206132 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:132206132C>A uc011ecf.1 + 23 2393 c.2373C>A c.(2371-2373)GTC>GTA p.V791V NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 791 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GAAATGGTGTCAATGTCGTCA 0.378 13 17 --- --- --- --- PASS ECT2L 345930 broad.mit.edu 37 6 139175174 139175174 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:139175174G>T uc003qif.1 + 8 1184 c.1081G>T c.(1081-1083)GGT>TGT p.G361C ECT2L_uc011edq.1_Missense_Mutation_p.G292C NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 361 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 CTATAAAATTGGTGTTAAAAA 0.363 5 83 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157522468 157522468 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:157522468G>T uc003qqn.2 + 18 4838 c.4686G>T c.(4684-4686)ATG>ATT p.M1562I ARID1B_uc003qqo.2_Missense_Mutation_p.M1522I|ARID1B_uc003qqp.2_Missense_Mutation_p.M1509I NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1567 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CTATGAAGATGCAGAAGGTCA 0.597 34 44 --- --- --- --- PASS PLG 5340 broad.mit.edu 37 6 161139439 161139439 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:161139439G>T uc003qtm.3 + 8 964 c.901G>T c.(901-903)GCA>TCA p.A301S NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 301 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCACTGGAGTGCACAGACCCC 0.527 27 24 --- --- --- --- PASS AGPAT4 56895 broad.mit.edu 37 6 161587445 161587445 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr6:161587445C>A uc003qtr.1 - 3 410 c.183G>T c.(181-183)CTG>CTT p.L61L AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Silent_p.L61L|AGPAT4_uc011egd.1_5'UTR|AGPAT4_uc011ege.1_Intron NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 61 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) GCAGCATCACCAGCTCTGGAA 0.572 12 17 --- --- --- --- PASS USP42 84132 broad.mit.edu 37 7 6189676 6189676 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:6189676G>A uc011jwo.1 + 13 1972 c.1849G>A c.(1849-1851)GAG>AAG p.E617K USP42_uc010kth.1_Missense_Mutation_p.E550K|USP42_uc011jwp.1_Missense_Mutation_p.E617K|USP42_uc011jwq.1_Missense_Mutation_p.E424K|USP42_uc011jwr.1_Missense_Mutation_p.E462K NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 617 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GGACTCTGACGAGGAGTCAAA 0.597 9 13 --- --- --- --- PASS MEOX2 4223 broad.mit.edu 37 7 15725863 15725863 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:15725863G>T uc003stc.2 - 1 446 c.165C>A c.(163-165)AAC>AAA p.N55K MEOX2_uc011jxw.1_Missense_Mutation_p.N55K NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 55 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TGCCCTCTTCGTTGGGGTATC 0.398 10 8 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34094843 34094843 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:34094843T>C uc011kap.1 + 9 969 c.855T>C c.(853-855)TGT>TGC p.C285C NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 285 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AGGAGGGCTGTTGTGAAGAGT 0.498 31 74 --- --- --- --- PASS SEPT7 989 broad.mit.edu 37 7 35919506 35919506 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:35919506G>T uc010kxc.2 + 6 779 c.586G>T c.(586-588)GCA>TCA p.A196S SEPT7_uc011kat.1_Missense_Mutation_p.A195S|SEPT7_uc011kau.1_Missense_Mutation_p.A160S|SEPT7_uc011kav.1_Missense_Mutation_p.A143S|SEPT7_uc003tey.2_Missense_Mutation_p.A44S NM_001788 NP_001779 Q16181 SEPT7_HUMAN cell division cycle 10 isoform 1 196 GTP (By similarity). cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity 0 TATTGCCAAAGCAGACACACT 0.363 18 25 --- --- --- --- PASS AOAH 313 broad.mit.edu 37 7 36634000 36634000 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:36634000C>A uc003tfh.3 - 12 1284 c.883G>T c.(883-885)GAG>TAG p.E295* AOAH_uc010kxf.2_Nonsense_Mutation_p.E295*|AOAH_uc011kba.1_Nonsense_Mutation_p.E263* NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 295 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 CAGTCAAGCTCGTTGGTAAGG 0.403 4 107 --- --- --- --- PASS GPR141 353345 broad.mit.edu 37 7 37780665 37780665 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:37780665C>A uc003tfm.1 + 1 670 c.670C>A c.(670-672)CAG>AAG p.Q224K uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 224 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 GTTCTGGGCTCAGCTGAAAAA 0.438 28 74 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187643 57187643 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:57187643G>T uc010kzo.2 - 5 1750 c.1479C>A c.(1477-1479)TAC>TAA p.Y493* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 493 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CTTCACATTTGTAGGGTTTCT 0.388 11 24 --- --- --- --- PASS GUSB 2990 broad.mit.edu 37 7 65444483 65444483 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:65444483G>A uc003tun.2 - 4 703 c.627C>T c.(625-627)TTC>TTT p.F209F GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Missense_Mutation_p.S38L NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 209 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 CAGCGTAGTTGAAAAAGTCAA 0.532 26 38 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71177096 71177096 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:71177096G>T uc003tvy.2 + 11 1762 c.1762G>T c.(1762-1764)GGT>TGT p.G588C WBSCR17_uc003tvz.2_Missense_Mutation_p.G287C NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 588 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CAGCTGCACAGGTCAGAGGTG 0.627 12 39 --- --- --- --- PASS HIP1 3092 broad.mit.edu 37 7 75168666 75168666 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:75168666C>A uc003uds.1 - 30 3079 c.3038G>T c.(3037-3039)GGT>GTT p.G1013V HIP1_uc011kfz.1_Missense_Mutation_p.G839V NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 1013 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CTCAGCAACACCAGCAAGCTC 0.532 T PDGFRB CMML 99 234 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81978903 81978903 + Missense_Mutation SNP C T T rs79543314 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:81978903C>T uc003uhr.1 - 2 414 c.158G>A c.(157-159)GGA>GAA p.G53E NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 53 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTGATTGACTCCACTTGCTGT 0.368 22 54 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764209 82764209 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:82764209C>A uc003uhx.2 - 3 2946 c.2657G>T c.(2656-2658)GGC>GTC p.G886V PCLO_uc003uhv.2_Missense_Mutation_p.G886V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 832 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GACAGTTTGGCCAGCGGTAGG 0.527 54 114 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965101 88965101 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:88965101G>C uc011khi.1 + 4 3343 c.2805G>C c.(2803-2805)AAG>AAC p.K935N NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 935 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TACAAGCCAAGAAATGTCAAG 0.418 HNSCC(36;0.09) 57 144 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94057744 94057744 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:94057744C>G uc003ung.1 + 50 4137 c.3666C>G c.(3664-3666)GAC>GAG p.D1222E COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1222 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCTCCAAGGACAAGAAACACG 0.463 HNSCC(75;0.22) 18 34 --- --- --- --- PASS SMURF1 57154 broad.mit.edu 37 7 98645444 98645444 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:98645444C>A uc003upu.1 - 11 1413 c.1093G>T c.(1093-1095)GAG>TAG p.E365* SMURF1_uc003upv.1_Nonsense_Mutation_p.E339*|SMURF1_uc003upt.2_Nonsense_Mutation_p.E339* NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 365 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TCCTCGTCCTCCAGAGAGCCC 0.572 7 136 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100683152 100683152 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:100683152C>A uc003uxp.1 + 3 8508 c.8455C>A c.(8455-8457)CAC>AAC p.H2819N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2819 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45. 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) GCCTGTCAACCACACGCCAGT 0.493 8 319 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101840336 101840336 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:101840336G>T uc003uyx.3 + 15 1683 c.1645G>T c.(1645-1647)GAG>TAG p.E549* CUX1_uc003uys.3_Nonsense_Mutation_p.E560*|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 549 CUT 1. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CTCCGAGGGCGAGGAGATGGA 0.522 5 139 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103237091 103237091 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:103237091C>A uc003vca.2 - 25 3511 c.3351G>T c.(3349-3351)CTG>CTT p.L1117L RELN_uc010liz.2_Silent_p.L1117L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1117 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCCAACTCACCAGCTGTCTTT 0.448 20 35 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116340287 116340287 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:116340287G>T uc003vij.2 + 2 1336 c.1149G>T c.(1147-1149)GTG>GTT p.V383V MET_uc010lkh.2_Silent_p.V383V|MET_uc011knc.1_Silent_p.V383V|MET_uc011knd.1_Silent_p.V383V|MET_uc011kne.1_Silent_p.V383V|MET_uc011knf.1_Silent_p.V383V|MET_uc011kng.1_Silent_p.V383V|MET_uc011knh.1_Silent_p.V383V|MET_uc011kni.1_Silent_p.V383V|MET_uc003vii.1_Silent_p.V402V|MET_uc010lkg.2_Silent_p.V383V|MET_uc011kmz.1_Silent_p.V383V|MET_uc011kna.1_Silent_p.V383V|MET_uc011knb.1_Silent_p.V383V NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 383 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AAAACAATGTGAGATGTCTCC 0.408 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 17 50 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119914843 119914843 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:119914843C>G uc003vjj.1 + 1 1122 c.157C>G c.(157-159)CAG>GAG p.Q53E NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 53 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CACCCGCTTCCAGACGTGGCA 0.562 38 93 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128485260 128485260 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:128485260G>A uc003vnz.3 + 21 3950 c.3741G>A c.(3739-3741)GCG>GCA p.A1247A FLNC_uc003voa.3_Silent_p.A1247A NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1247 Filamin 11. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TGCAGCCTGCGGTCGATACCA 0.602 17 29 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137172389 137172389 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:137172389C>G uc003vtt.2 - 23 2350 c.2349G>C c.(2347-2349)GAG>GAC p.E783D DGKI_uc003vtu.2_Missense_Mutation_p.E483D NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 783 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TACGGCAAGTCTCCAAATCAC 0.363 55 145 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138603107 138603107 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr7:138603107G>T uc011kql.1 - 2 1314 c.1265C>A c.(1264-1266)GCG>GAG p.A422E KIAA1549_uc003vuk.3_Missense_Mutation_p.A372E|KIAA1549_uc011kqj.1_Missense_Mutation_p.A422E NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 422 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AGTGCAGGCCGCACACCAAGT 0.557 O BRAF pilocytic astrocytoma 4 100 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10464585 10464585 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:10464585G>T uc003wtc.2 - 4 7252 c.7023C>A c.(7021-7023)ACC>ACA p.T2341T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2341 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGTACATCCTGGTGGCCTTCC 0.542 5 102 --- --- --- --- PASS CNOT7 29883 broad.mit.edu 37 8 17090016 17090016 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:17090016C>G uc003wxf.1 - 6 817 c.649G>C c.(649-651)GAG>CAG p.E217Q CNOT7_uc003wxg.1_Missense_Mutation_p.E217Q|CNOT7_uc003wxh.1_Missense_Mutation_p.E217Q NM_013354 NP_037486 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 217 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) CGTTCCAGCTCTAACTGTTCT 0.388 34 45 --- --- --- --- PASS VPS37A 137492 broad.mit.edu 37 8 17137762 17137762 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:17137762T>C uc003wxj.2 + 8 1209 c.856T>C c.(856-858)TTG>CTG p.L286L VPS37A_uc003wxk.2_Silent_p.L261L|VPS37A_uc003wxl.2_Silent_p.L63L NM_152415 NP_689628 Q8NEZ2 VP37A_HUMAN hepatocellular carcinoma related protein 1 286 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus 0 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) AAATCTCCTTTTGGAGCCCAG 0.318 16 17 --- --- --- --- PASS LGI3 203190 broad.mit.edu 37 8 22012074 22012074 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:22012074G>A uc003xav.2 - 3 638 c.349C>T c.(349-351)CTC>TTC p.L117F LGI3_uc010ltu.2_Missense_Mutation_p.L117F NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 117 LRR 2. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CCCACACACAGATACTGCAGG 0.557 24 27 --- --- --- --- PASS MIR320A 407037 broad.mit.edu 37 8 22102500 22102500 + RNA SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:22102500C>T hsa-mir-320a|MI0000542 - c.57C>T uc011kzd.1_RNA|POLR3D_uc003xbl.2_5'Flank|POLR3D_uc003xbm.2_5'Flank|POLR3D_uc011kze.1_5'Flank 0 GCCCTCTCAACCCAGCTTTTC 0.647 26 24 --- --- --- --- PASS LYPLA1 10434 broad.mit.edu 37 8 54963627 54963627 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:54963627G>A uc003xry.2 - 8 778 c.584C>T c.(583-585)CCA>CTA p.P195L LYPLA1_uc011ldx.1_Missense_Mutation_p.P156L|LYPLA1_uc003xrz.2_Missense_Mutation_p.P174L NM_006330 NP_006321 O75608 LYPA1_HUMAN lysophospholipase 1 195 fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytosol lysophospholipase activity|palmitoyl-(protein) hydrolase activity central_nervous_system(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689) CACATTGGCTGGATTCACCAA 0.423 31 69 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56270408 56270408 + Missense_Mutation SNP T G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:56270408T>G uc003xsf.2 + 2 1009 c.977T>G c.(976-978)GTA>GGA p.V326G NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 326 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TGCATTATCGTACAGACTCAT 0.463 10 21 --- --- --- --- PASS CNBD1 168975 broad.mit.edu 37 8 88249239 88249239 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:88249239C>A uc003ydy.2 + 6 718 c.670C>A c.(670-672)CCA>ACA p.P224T NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 224 ovary(3) 3 AAGTGATTCACCAGACTCGTT 0.373 22 67 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113484877 113484877 + Nonsense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:113484877T>A uc003ynu.2 - 32 5497 c.5338A>T c.(5338-5340)AAA>TAA p.K1780* CSMD3_uc003yns.2_Nonsense_Mutation_p.K1052*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.K1740*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.K1676* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1780 Extracellular (Potential).|CUB 10. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGTAATTTTTTGGATAGTTT 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 40 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113694737 113694737 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:113694737C>T uc003ynu.2 - 16 2770 c.2611G>A c.(2611-2613)GAA>AAA p.E871K CSMD3_uc003yns.2_Missense_Mutation_p.E143K|CSMD3_uc003ynt.2_Missense_Mutation_p.E831K|CSMD3_uc011lhx.1_Missense_Mutation_p.E767K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 871 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTAATTGTTTCTGTTCCCTGG 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 43 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120594825 120594825 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:120594825G>A uc003yot.1 - 18 1647 c.1561C>T c.(1561-1563)CCA>TCA p.P521S ENPP2_uc011lic.1_Missense_Mutation_p.P38S|ENPP2_uc003yor.1_Missense_Mutation_p.P160S|ENPP2_uc003yos.1_Missense_Mutation_p.P573S|ENPP2_uc010mdd.1_Missense_Mutation_p.P521S NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 521 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTAGGAGCTGGCTTCAATCCC 0.413 35 93 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121292969 121292969 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:121292969G>T uc003yox.2 + 30 3931 c.3666G>T c.(3664-3666)AAG>AAT p.K1222N COL14A1_uc003yoz.2_Missense_Mutation_p.K187N NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1222 Nonhelical region (NC4). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGTACACAAGGATGGCATTG 0.373 15 22 --- --- --- --- PASS SNTB1 6641 broad.mit.edu 37 8 121706117 121706117 + Silent SNP C T T rs140148929 byFrequency TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:121706117C>T uc010mdg.2 - 2 829 c.603G>A c.(601-603)GTG>GTA p.V201V SNTB1_uc003ype.2_Silent_p.V201V NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 201 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) ATCCTTTCTTCACATAGGGCG 0.517 13 59 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133036764 133036764 + Silent SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:133036764C>G uc003ytg.2 - 13 1398 c.1398G>C c.(1396-1398)CTG>CTC p.L466L OC90_uc011lix.1_Silent_p.L466L NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 482 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCAAGGGACCCAGTGACTTCC 0.597 5 13 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133053809 133053809 + Missense_Mutation SNP A C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:133053809A>C uc003ytg.2 - 3 259 c.259T>G c.(259-261)TTT>GTT p.F87V OC90_uc011lix.1_Missense_Mutation_p.F103V NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 103 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TCCATCTCAAACCTGCAGGTG 0.498 21 39 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32541567 32541567 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:32541567G>A uc003zrb.2 - 3 3123 c.2956C>T c.(2956-2958)CCA>TCA p.P986S TOPORS_uc003zrc.2_Missense_Mutation_p.P919S NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 986 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GCCAGAGGTGGAATATTATCT 0.398 113 43 --- --- --- --- PASS RASEF 158158 broad.mit.edu 37 9 85607851 85607851 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:85607851G>A uc004amo.1 - 15 2271 c.2010C>T c.(2008-2010)GTC>GTT p.V670V NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 670 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 AGTGCCCTGGGACACATTTTT 0.493 25 46 --- --- --- --- PASS CTSL3 392360 broad.mit.edu 37 9 90388065 90388065 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:90388065A>T uc004apm.1 + 2 136 c.130A>T c.(130-132)AGG>TGG p.R44W NR_027917 RecName: Full=Putative cathepsin L-like protein 3; Short=Cathepsin L-like protein; AltName: Full=HCTSL-s; ovary(1) 1 CCAGAAGCACAGGAAGGGGAA 0.438 26 53 --- --- --- --- PASS FBP2 8789 broad.mit.edu 37 9 97333785 97333785 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:97333785G>A uc004auv.2 - 4 593 c.526C>T c.(526-528)CTC>TTC p.L176F uc004auu.2_Intron NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 176 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) CCTGTGGAGAGAGCCACCAGG 0.567 7 26 --- --- --- --- PASS C9orf102 375748 broad.mit.edu 37 9 98669439 98669439 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:98669439C>G uc004avt.3 + 4 1095 c.707C>G c.(706-708)ACT>AGT p.T236S C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Missense_Mutation_p.T47S NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 236 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TTCAGAGTCACTGTTTTACAT 0.348 14 26 --- --- --- --- PASS CTSL2 1515 broad.mit.edu 37 9 99797040 99797040 + Silent SNP C T T rs145877427 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:99797040C>T uc004awt.2 - 7 1070 c.873G>A c.(871-873)TCG>TCA p.S291S CTSL2_uc010msi.2_Silent_p.S291S|CTSL2_uc004awu.2_Silent_p.S236S|CTSL2_uc010msj.1_Silent_p.S236S NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 291 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) TGCTGTTATTCGAATTTGCTC 0.383 14 39 --- --- --- --- PASS ALG2 85365 broad.mit.edu 37 9 101980956 101980956 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:101980956C>T uc004azf.2 - 2 581 c.511G>A c.(511-513)GAC>AAC p.D171N ALG2_uc004azg.2_Missense_Mutation_p.D78N NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 171 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) AAGATGCAGTCTGCCATGCCT 0.448 13 36 --- --- --- --- PASS CYLC2 1539 broad.mit.edu 37 9 105767646 105767646 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:105767646G>T uc004bbs.2 + 5 803 c.733G>T c.(733-735)GAG>TAG p.E245* NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 245 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) AAAGAAGGATGAGGATGGAAA 0.368 6 103 --- --- --- --- PASS ZNF883 169834 broad.mit.edu 37 9 115760266 115760266 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:115760266T>C uc011lwy.1 - 5 1513 c.274A>G c.(274-276)ACT>GCT p.T92A NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCTCCCCAGTATGGACTCTT 0.363 15 27 --- --- --- --- PASS CDK5RAP2 55755 broad.mit.edu 37 9 123220895 123220895 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:123220895C>G uc004bkf.2 - 20 2389 c.2208G>C c.(2206-2208)ATG>ATC p.M736I CDK5RAP2_uc004bke.2_Missense_Mutation_p.M21I|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M736I|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M1I|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M1I|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M1I|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.M503I NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 736 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 AAAGGTCTTTCATAATCTGCA 0.453 8 68 --- --- --- --- PASS PHF19 26147 broad.mit.edu 37 9 123636960 123636960 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:123636960G>T uc004bks.1 - 2 313 c.60C>A c.(58-60)CTC>CTA p.L20L PHF19_uc004bkt.2_Silent_p.L20L|PHF19_uc010mvk.2_Silent_p.L20L NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 CCTTGTTGGGGAGGTGGCTGG 0.567 6 85 --- --- --- --- PASS SLC25A25 114789 broad.mit.edu 37 9 130869708 130869708 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:130869708C>A uc004bte.2 + 10 1424 c.1395C>A c.(1393-1395)GGC>GGA p.G465G SLC25A25_uc004btb.2_Silent_p.G499G|SLC25A25_uc004btc.2_Silent_p.G485G|SLC25A25_uc004btd.2_Silent_p.G497G|SLC25A25_uc004btf.2_Silent_p.G362G NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 465 Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 TCACCCTGGGCGTGCAGTCGC 0.637 22 83 --- --- --- --- PASS GOLGA2 2801 broad.mit.edu 37 9 131021485 131021485 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:131021485C>T uc011maw.1 - 19 1990 c.1977G>A c.(1975-1977)GCG>GCA p.A659A GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Silent_p.A132A NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 659 Potential. Golgi cisterna membrane protein binding ovary(1) 1 TCTCGGCCACCGCTTTGCCCT 0.617 7 20 --- --- --- --- PASS PRRX2 51450 broad.mit.edu 37 9 132484622 132484622 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:132484622G>T uc004byh.2 + 4 980 c.753G>T c.(751-753)ACG>ACT p.T251T NM_016307 NP_057391 Q99811 PRRX2_HUMAN paired related homeobox 2 251 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 Ovarian(14;0.00556) AGGTGCCTACGGTGAACTGAA 0.622 14 21 --- --- --- --- PASS OBP2A 29991 broad.mit.edu 37 9 138439740 138439740 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:138439740C>A uc004cgb.2 + 4 343 c.301C>A c.(301-303)CTG>ATG p.L101M OBP2A_uc004cgc.2_Missense_Mutation_p.L101M|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.P56H NM_014582 NP_055397 Q9NY56 OBP2A_HUMAN odorant binding protein 2A precursor 101 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GCTCATATACCTGCAGGAGCT 0.587 10 24 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139402784 139402784 + Nonsense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr9:139402784C>T uc004chz.2 - 20 3225 c.3225G>A c.(3223-3225)TGG>TGA p.W1075* NOTCH1_uc004cia.1_Nonsense_Mutation_p.W305* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1075 Extracellular (Potential).|EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGTGGGTCTGCCAGCATTTGC 0.662 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 13 68 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25885705 25885705 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:25885705C>A uc001isj.2 + 10 2192 c.2132C>A c.(2131-2133)CCA>CAA p.P711Q GPR158_uc001isk.2_Missense_Mutation_p.P86Q NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 711 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AGCTTGGATCCAGAGGACATT 0.483 19 27 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28228919 28228919 + Silent SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:28228919T>A uc009xky.2 - 14 2102 c.2004A>T c.(2002-2004)GCA>GCT p.A668A ARMC4_uc010qds.1_Silent_p.A193A|ARMC4_uc010qdt.1_Silent_p.A360A|ARMC4_uc001itz.2_Silent_p.A668A NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 668 ARM 4.|HEAT. binding ovary(4)|skin(2) 6 CTGCTTTGATTGCAGCCCGGT 0.388 11 19 --- --- --- --- PASS MPP7 143098 broad.mit.edu 37 10 28345494 28345494 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:28345494G>T uc001iua.1 - 18 1870 c.1466C>A c.(1465-1467)CCA>CAA p.P489Q MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.P489Q|MPP7_uc009xla.2_Missense_Mutation_p.P489Q|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 489 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 CTCTATTGATGGAGGCTTTAT 0.358 7 87 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38344482 38344482 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:38344482C>A uc001izh.2 + 5 1605 c.1427C>A c.(1426-1428)TCC>TAC p.S476Y ZNF33A_uc001izg.2_Missense_Mutation_p.S477Y|ZNF33A_uc010qev.1_Missense_Mutation_p.S483Y|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 476 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TGTGGGAAATCCTTTAGTGAA 0.383 17 23 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38344544 38344544 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:38344544G>A uc001izh.2 + 5 1667 c.1489G>A c.(1489-1491)GAA>AAA p.E497K ZNF33A_uc001izg.2_Missense_Mutation_p.E498K|ZNF33A_uc010qev.1_Missense_Mutation_p.E504K|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 497 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TAAATCTTATGAATGTAATGC 0.368 8 39 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38406785 38406785 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:38406785A>T uc001izk.2 + 8 1525 c.706A>T c.(706-708)ACC>TCC p.T236S ZNF37A_uc001izl.2_Missense_Mutation_p.T236S|ZNF37A_uc001izm.2_Missense_Mutation_p.T236S NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 236 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AATTCAGAGAACCCACTCAAT 0.333 15 25 --- --- --- --- PASS ZNF485 220992 broad.mit.edu 37 10 44111890 44111890 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:44111890G>T uc010qfc.1 + 5 593 c.399G>T c.(397-399)AAG>AAT p.K133N ZNF485_uc010qfd.1_Missense_Mutation_p.K42N NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 133 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATAAGTGCAAGGAATGTGGGA 0.448 5 65 --- --- --- --- PASS RASSF4 83937 broad.mit.edu 37 10 45480357 45480357 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:45480357G>A uc001jbo.2 + 6 604 c.470G>A c.(469-471)GGT>GAT p.G157D RASSF4_uc001jbp.2_Missense_Mutation_p.G188D|RASSF4_uc009xmn.2_Missense_Mutation_p.G87D|RASSF4_uc001jbq.2_Missense_Mutation_p.G54D|RASSF4_uc001jbt.2_Missense_Mutation_p.G114D NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 157 cell cycle|signal transduction protein binding large_intestine(1) 1 CGCGCCCCCGGTGAGGCCCAG 0.677 17 48 --- --- --- --- PASS IPMK 253430 broad.mit.edu 37 10 59986886 59986886 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:59986886G>A uc001jkb.2 - 3 614 c.291C>T c.(289-291)GAC>GAT p.D97D NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 97 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 CATCAAAACAGTCAGCAGCAT 0.353 18 47 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75276843 75276843 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:75276843C>A uc001juo.2 - 18 3358 c.3341G>T c.(3340-3342)AGT>ATT p.S1114I USP54_uc010qkk.1_Missense_Mutation_p.S296I|USP54_uc001juk.2_Missense_Mutation_p.S202I|USP54_uc001jul.2_Missense_Mutation_p.S202I|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1114 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) GGTCTCCTCACTGCCTCTGTC 0.498 23 35 --- --- --- --- PASS MYST4 23522 broad.mit.edu 37 10 76790376 76790376 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:76790376C>A uc001jwn.1 + 18 6287 c.5794C>A c.(5794-5796)CTG>ATG p.L1932M MYST4_uc001jwo.1_Missense_Mutation_p.L1640M|MYST4_uc001jwp.1_Missense_Mutation_p.L1749M NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1932 Interaction with RUNX1 and RUNX2. histone H3 acetylation|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 factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GTCAGCGTCTCTGTCACCAGC 0.532 T CREBBP AML 5 60 --- --- --- --- PASS SFTPD 6441 broad.mit.edu 37 10 81701710 81701710 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:81701710C>A uc001kbh.2 - 5 593 c.550G>T c.(550-552)GGG>TGG p.G184W MBL1P_uc001kbf.2_Intron NM_003019 NP_003010 P35247 SFTPD_HUMAN pulmonary surfactant-associated protein D 184 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding skin(1) 1 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CACTGCTCACCTGCTGCCCCT 0.642 5 50 --- --- --- --- PASS MARCH5 54708 broad.mit.edu 37 10 94109448 94109448 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:94109448C>A uc001khx.1 + 5 906 c.574C>A c.(574-576)CGA>AGA p.R192R MARCH5_uc010qno.1_Silent_p.R88R NM_017824 NP_060294 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 192 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 TCCTGTTCCTCGAATTCCAGC 0.418 8 289 --- --- --- --- PASS ABCC2 1244 broad.mit.edu 37 10 101604082 101604082 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:101604082C>A uc001kqf.2 + 28 3986 c.3847C>A c.(3847-3849)CCC>ACC p.P1283T NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1283 Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTGCCAGGCACCCTGGGTGAC 0.527 15 30 --- --- --- --- PASS PKD2L1 9033 broad.mit.edu 37 10 102054794 102054794 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:102054794G>T uc001kqx.1 - 8 1826 c.1443C>A c.(1441-1443)GCC>GCA p.A481A PKD2L1_uc009xwm.1_Silent_p.A434A NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 481 Helical; (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AGAACATGACGGCGAAGCCCA 0.507 20 50 --- --- --- --- PASS AS3MT 57412 broad.mit.edu 37 10 104638234 104638234 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:104638234A>T uc001kwk.2 + 8 849 c.709A>T c.(709-711)ACA>TCA p.T237S AS3MT_uc001kwj.2_Missense_Mutation_p.T239S|AS3MT_uc009xxh.2_Missense_Mutation_p.T237S NM_020682 NP_065733 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 237 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) CAATCTCATTACAATTCAAAA 0.418 24 73 --- --- --- --- PASS ADRB1 153 broad.mit.edu 37 10 115804389 115804389 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:115804389C>A uc001lba.2 + 1 584 c.498C>A c.(496-498)TAC>TAA p.Y166* NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 166 Cytoplasmic (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) CCTTCCGCTACCAGAGCCTGC 0.572 16 32 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118363606 118363606 + Silent SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:118363606T>A uc001lco.1 + 11 1146 c.1128T>A c.(1126-1128)GCT>GCA p.A376A PNLIPRP1_uc001lcp.2_Silent_p.A376A NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 376 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) TCAAAGTTGCTTTGTTTGGAA 0.413 5 16 --- --- --- --- PASS KCNK18 338567 broad.mit.edu 37 10 118957018 118957018 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:118957018C>G uc010qsr.1 + 1 19 c.19C>G c.(19-21)CCC>GCC p.P7A NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 7 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CTCGGGGCACCCCCAGGCCAG 0.632 11 22 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120797901 120797901 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:120797901G>T uc001ldu.2 - 20 3723 c.3577C>A c.(3577-3579)CGA>AGA p.R1193R EIF3A_uc010qsu.1_Silent_p.R1159R|EIF3A_uc009xzg.1_Silent_p.R232R NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1193 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTTGATTCTCGAGGTGGACCC 0.244 6 152 --- --- --- --- PASS CUZD1 50624 broad.mit.edu 37 10 124594350 124594350 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:124594350C>T uc001lgq.2 - 7 1586 c.1254G>A c.(1252-1254)TTG>TTA p.L418L CUZD1_uc001lgp.2_Silent_p.L137L|CUZD1_uc009yad.2_Silent_p.L137L|CUZD1_uc009yaf.2_Silent_p.L52L|CUZD1_uc001lgr.2_Silent_p.L137L|CUZD1_uc010qty.1_Silent_p.L137L|CUZD1_uc009yae.2_Silent_p.L137L|CUZD1_uc001lgs.2_Silent_p.L418L|CUZD1_uc010qtz.1_Silent_p.L418L NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 418 Extracellular (Potential).|ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GAGTTTGGTTCAAATCCACAT 0.383 10 25 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129902137 129902137 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr10:129902137G>T uc001lke.2 - 13 8162 c.7967C>A c.(7966-7968)CCA>CAA p.P2656Q MKI67_uc001lkf.2_Missense_Mutation_p.P2296Q|MKI67_uc009yav.1_Missense_Mutation_p.P2231Q|MKI67_uc009yaw.1_Missense_Mutation_p.P1806Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2656 14.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTCTTCTACTGGGTTTGGTTT 0.512 21 53 --- --- --- --- PASS SIRT3 23410 broad.mit.edu 37 11 218844 218844 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:218844C>A uc001lok.3 - 6 1201 c.1167G>T c.(1165-1167)CGG>CGT p.R389R SIRT3_uc001loj.3_Silent_p.R247R|SIRT3_uc010qvm.1_Silent_p.R325R|SIRT3_uc010qvn.1_Silent_p.R308R|SIRT3_uc010qvo.1_Silent_p.R389R|SIRT3_uc010qvp.1_Silent_p.R335R|SIRT3_uc010qvq.1_Silent_p.R247R NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 389 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) TCCCAGTTTCCCGCTGCACAA 0.607 13 35 --- --- --- --- PASS ATHL1 80162 broad.mit.edu 37 11 292014 292014 + Silent SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:292014A>G uc010qvu.1 + 5 1060 c.945A>G c.(943-945)CCA>CCG p.P315P ATHL1_uc001lor.3_Silent_p.P138P|ATHL1_uc001los.1_Silent_p.P315P|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 315 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TGTTCCACCCAGAAGCCGCCA 0.672 5 10 --- --- --- --- PASS OR51F1 256892 broad.mit.edu 37 11 4790944 4790944 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:4790944T>C uc010qyl.1 - 1 204 c.204A>G c.(202-204)CTA>CTG p.L68L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 68 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CAGTGGCTGATAGCCTGAAGA 0.448 11 25 --- --- --- --- PASS OR51S1 119692 broad.mit.edu 37 11 4870257 4870257 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:4870257G>A uc010qyo.1 - 1 182 c.182C>T c.(181-183)CCC>CTC p.P61L NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 61 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGCAGGGCGGGCTGCAGGGC 0.562 22 38 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6644526 6644526 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:6644526G>A uc001mem.1 - 21 8791 c.8381C>T c.(8380-8382)TCA>TTA p.S2794L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2794 Cadherin 26.|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) GACAGAGGCTGAGAGATTCCC 0.567 4 8 --- --- --- --- PASS OR5P2 120065 broad.mit.edu 37 11 7818157 7818157 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:7818157C>A uc001mfp.1 - 1 333 c.333G>T c.(331-333)CTG>CTT p.L111L NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCATGGCAGCCAGAAGGACGC 0.473 40 86 --- --- --- --- PASS MICALCL 84953 broad.mit.edu 37 11 12316029 12316029 + Missense_Mutation SNP C T T rs113400332 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:12316029C>T uc001mkg.1 + 3 1342 c.1051C>T c.(1051-1053)CGG>TGG p.R351W NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 351 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) TTTGCCCAATCGGCCATCCAA 0.552 35 80 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26574888 26574888 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:26574888C>A uc001mqt.3 + 13 1527 c.1382C>A c.(1381-1383)GCC>GAC p.A461D ANO3_uc010rdr.1_Missense_Mutation_p.A445D|ANO3_uc010rds.1_Missense_Mutation_p.A300D|ANO3_uc010rdt.1_Missense_Mutation_p.A315D NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 461 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGTATCTATGCCAAGGTGAGT 0.458 58 107 --- --- --- --- PASS NAT10 55226 broad.mit.edu 37 11 34158541 34158541 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:34158541G>T uc001mvk.2 + 21 2423 c.2179G>T c.(2179-2181)GGA>TGA p.G727* NAT10_uc010ren.1_Nonsense_Mutation_p.G655* NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 727 N-acetyltransferase.|Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GAAACGAGCTGGATTTGTTCC 0.512 4 18 --- --- --- --- PASS CRY2 1408 broad.mit.edu 37 11 45889225 45889225 + Silent SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:45889225A>T uc010rgn.1 + 6 889 c.867A>T c.(865-867)ACA>ACT p.T289T CRY2_uc009ykw.2_Silent_p.T207T|CRY2_uc010rgo.1_Silent_p.T11T NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 268 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 CCAGCCCCACAGGCCTCAGCC 0.572 21 53 --- --- --- --- PASS KBTBD4 55709 broad.mit.edu 37 11 47595308 47595308 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:47595308C>A uc001nfx.2 - 4 902 c.731G>T c.(730-732)GGG>GTG p.G244V NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.G269V|KBTBD4_uc001nfz.2_Missense_Mutation_p.G260V|KBTBD4_uc001nfy.2_Missense_Mutation_p.G244V NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 244 Kelch 1. ovary(1)|central_nervous_system(1) 2 TGACTCTTTCCCAATCAGGTA 0.433 5 75 --- --- --- --- PASS AGBL2 79841 broad.mit.edu 37 11 47712000 47712000 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:47712000C>A uc001ngg.2 - 9 1359 c.1259G>T c.(1258-1260)TGC>TTC p.C420F AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.C382F|AGBL2_uc001ngh.1_Missense_Mutation_p.C364F NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 420 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 TTGGAGCTTGCAGAACTGAGA 0.478 22 40 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003265 50003265 + Missense_Mutation SNP C G G rs141386333 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:50003265C>G uc010ria.1 - 1 773 c.773G>C c.(772-774)CGC>CCC p.R258P NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGTCACTGAGCGCAGATACAC 0.433 5 30 --- --- --- --- PASS OR8K1 390157 broad.mit.edu 37 11 56113634 56113634 + Silent SNP A T T rs149499466 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:56113634A>T uc010rjg.1 + 1 120 c.120A>T c.(118-120)ATA>ATT p.I40I NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TCCTCATCATATATCTGGTCA 0.463 HNSCC(65;0.19) 14 33 --- --- --- --- PASS FADS2 9415 broad.mit.edu 37 11 61624947 61624947 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:61624947C>G uc001nsl.1 + 7 977 c.827C>G c.(826-828)CCC>CGC p.P276R FADS2_uc001nsj.2_Missense_Mutation_p.P254R|FADS2_uc010rlo.1_Missense_Mutation_p.P245R|FADS2_uc001nsk.2_Missense_Mutation_p.P276R NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 276 Helical; (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) CTGCTCATCCCCATGTATTTC 0.592 11 48 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66463960 66463960 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:66463960C>A uc001ojd.2 - 20 4138 c.4066G>T c.(4066-4068)GAG>TAG p.E1356* NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1356 Spectrin 10. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CTCAGCTTCTCCGACACCAGG 0.577 6 131 --- --- --- --- PASS PPP1CA 5499 broad.mit.edu 37 11 67168617 67168617 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:67168617C>A uc001okw.1 - 2 232 c.109G>T c.(109-111)GGT>TGT p.G37C PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.G42C|PPP1CA_uc001oku.1_Missense_Mutation_p.G48C|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Missense_Mutation_p.G125C|PPP1CA_uc001oky.2_Missense_Mutation_p.G37C|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank|TBC1D10C_uc001olb.2_5'Flank NM_002708 NP_002699 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha 37 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) AGGCACAGACCGCGGATCTCG 0.632 15 17 --- --- --- --- PASS CPT1A 1374 broad.mit.edu 37 11 68552317 68552317 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:68552317C>A uc001oog.3 - 10 1299 c.1129G>T c.(1129-1131)GAG>TAG p.E377* CPT1A_uc001oof.3_Nonsense_Mutation_p.E377*|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 377 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AGCCTGGCCTCCCCGGGCTGA 0.657 5 16 --- --- --- --- PASS MAP6 4135 broad.mit.edu 37 11 75299068 75299068 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:75299068G>T uc001owu.2 - 4 1543 c.1478C>A c.(1477-1479)CCA>CAA p.P493Q NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 493 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) TAGATCCTTTGGAGGCCCTGG 0.512 6 109 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83182671 83182671 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:83182671G>C uc001paj.2 - 19 2432 c.2129C>G c.(2128-2130)CCT>CGT p.P710R DLG2_uc001pai.2_Missense_Mutation_p.P589R|DLG2_uc010rsy.1_Missense_Mutation_p.P659R|DLG2_uc010rsz.1_Missense_Mutation_p.P706R|DLG2_uc010rta.1_Missense_Mutation_p.P692R|DLG2_uc001pak.2_Missense_Mutation_p.P815R|DLG2_uc010rtb.1_Missense_Mutation_p.P677R|DLG2_uc010rsw.1_Missense_Mutation_p.P174R|DLG2_uc010rsx.1_Missense_Mutation_p.P187R NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 710 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ACACTTACGAGGCACACAGGA 0.428 11 27 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83673930 83673930 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:83673930G>A uc001paj.2 - 9 1326 c.1023C>T c.(1021-1023)ACC>ACT p.T341T DLG2_uc001pai.2_Silent_p.T290T|DLG2_uc010rsy.1_Silent_p.T308T|DLG2_uc010rsz.1_Silent_p.T341T|DLG2_uc010rta.1_Silent_p.T341T|DLG2_uc001pak.2_Silent_p.T446T|DLG2_uc010rtb.1_Silent_p.T308T|DLG2_uc001pal.1_Silent_p.T341T|DLG2_uc001pam.1_Silent_p.T380T NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 341 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TATCTGACCTGGTGTAGTCGT 0.418 22 54 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93800724 93800724 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:93800724T>A uc001pep.2 + 5 1028 c.871T>A c.(871-873)TCC>ACC p.S291T uc001pen.1_RNA NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 291 Plastocyanin-like 2.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGAATCTGTGTCCTGGCACCT 0.473 53 98 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101829038 101829038 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:101829038C>A uc001pgm.2 + 5 916 c.646C>A c.(646-648)CAG>AAG p.Q216K KIAA1377_uc001pgn.2_Missense_Mutation_p.Q172K|KIAA1377_uc010run.1_Missense_Mutation_p.Q17K|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q17K NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 216 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAATGTGTTCCAGCTTAAACT 0.338 6 180 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810587 123810587 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:123810587C>T uc001pzk.1 + 1 264 c.264C>T c.(262-264)GGC>GGT p.G88G NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGCTCTCAGGCAACCCTACCA 0.473 23 42 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123894342 123894342 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:123894342G>T uc010sad.1 + 1 623 c.623G>T c.(622-624)GGC>GTC p.G208V NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTGGCCTCGGGCTGCTTTCTC 0.552 25 57 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900599 123900599 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:123900599T>C uc001pzp.1 + 1 270 c.270T>C c.(268-270)GCT>GCC p.A90A NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GTGGCAGGGCTATCTCCTTCC 0.517 21 59 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124766101 124766101 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:124766101G>A uc001qbg.2 - 4 812 c.672C>T c.(670-672)TCC>TCT p.S224S ROBO4_uc010sas.1_Silent_p.S79S|ROBO4_uc001qbh.2_Silent_p.S114S|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 224 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TACCCTGGATGGAAACCCGGG 0.602 12 33 --- --- --- --- PASS DYRK4 8798 broad.mit.edu 37 12 4705872 4705872 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:4705872C>A uc001qmx.2 + 6 697 c.537C>A c.(535-537)TTC>TTA p.F179L DYRK4_uc009zeh.1_Missense_Mutation_p.F294L|DYRK4_uc001qmy.1_Missense_Mutation_p.F179L NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 179 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GCAATCACTTCTGCATCACCT 0.423 14 39 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4735746 4735746 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:4735746T>A uc001qnb.3 - 4 2551 c.2322A>T c.(2320-2322)CAA>CAT p.Q774H NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 774 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 GAAGGACGGCTTGGAGTTGCT 0.502 17 45 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42863376 42863376 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:42863376T>A uc010skv.1 - 4 547 c.260A>T c.(259-261)CAG>CTG p.Q87L PRICKLE1_uc001rnl.2_Missense_Mutation_p.Q87L|PRICKLE1_uc010skw.1_Missense_Mutation_p.Q87L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.Q87L|PRICKLE1_uc009zka.2_Missense_Mutation_p.Q83L NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 87 PET. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) ACTCAAAGACTGGCAATACCG 0.458 19 37 --- --- --- --- PASS OR8S1 341568 broad.mit.edu 37 12 48921715 48921715 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:48921715C>G uc010slu.1 + 2 909 c.909C>G c.(907-909)GAC>GAG p.D303E NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCCTCCGGGACAGCAGTCATT 0.502 7 23 --- --- --- --- PASS OR6C70 390327 broad.mit.edu 37 12 55863538 55863538 + Missense_Mutation SNP G T T rs141132100 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:55863538G>T uc010spn.1 - 1 385 c.385C>A c.(385-387)CGT>AGT p.R129S NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GACATATAACGCAAAGGTTTG 0.388 26 48 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56568479 56568479 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:56568479G>A uc001skb.2 - 16 1558 c.1452C>T c.(1450-1452)ACC>ACT p.T484T SMARCC2_uc001skd.2_Silent_p.T484T|SMARCC2_uc001ska.2_Silent_p.T484T|SMARCC2_uc001skc.2_Silent_p.T484T|SMARCC2_uc010sqf.1_Silent_p.T373T NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 484 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGCGGCAGGCGGTAGAGGTAA 0.512 24 47 --- --- --- --- PASS LRIG3 121227 broad.mit.edu 37 12 59271448 59271448 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:59271448G>T uc001sqr.2 - 15 2516 c.2270C>A c.(2269-2271)TCA>TAA p.S757* LRIG3_uc009zqh.2_Nonsense_Mutation_p.S697*|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 757 Ig-like C2-type 3. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) ACTGACATCTGAGTCCACAAT 0.502 6 101 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444506 75444506 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:75444506C>A uc001sxg.1 - 3 1823 c.1279G>T c.(1279-1281)GGG>TGG p.G427W KCNC2_uc009zry.2_Missense_Mutation_p.G427W|KCNC2_uc001sxe.2_Missense_Mutation_p.G427W|KCNC2_uc001sxf.2_Missense_Mutation_p.G427W|KCNC2_uc010stw.1_Missense_Mutation_p.G427W NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 427 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CACCAGAACCCAATGGGAATG 0.512 12 23 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102067366 102067366 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:102067366C>A uc001tii.2 + 24 2856 c.2754C>A c.(2752-2754)TTC>TTA p.F918L MYBPC1_uc001tig.2_Missense_Mutation_p.F925L|MYBPC1_uc010svq.1_Missense_Mutation_p.F887L|MYBPC1_uc001tih.2_Missense_Mutation_p.F925L|MYBPC1_uc001tij.2_Missense_Mutation_p.F900L|MYBPC1_uc010svr.1_Missense_Mutation_p.F900L|MYBPC1_uc010svs.1_Missense_Mutation_p.F918L|MYBPC1_uc010svt.1_Missense_Mutation_p.F888L|MYBPC1_uc010svu.1_Missense_Mutation_p.F881L|MYBPC1_uc001tik.2_Missense_Mutation_p.F874L|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 918 Ig-like C2-type 6. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TGGACAAATTCGTGGAGACCG 0.418 5 169 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124305213 124305213 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:124305213G>T uc001uft.3 + 23 3758 c.3733G>T c.(3733-3735)GAT>TAT p.D1245Y NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1245 TPR 1.|Stem (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAACTTTTCGATCTTCCTAT 0.423 5 123 --- --- --- --- PASS DHX37 57647 broad.mit.edu 37 12 125435086 125435086 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:125435086G>A uc001ugy.2 - 23 3093 c.2994C>T c.(2992-2994)AGC>AGT p.S998S DHX37_uc001ugz.1_Silent_p.S85S NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 998 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGACCTCCACGCTAGAGACGC 0.701 5 9 --- --- --- --- PASS C13orf23 80209 broad.mit.edu 37 13 39600451 39600451 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:39600451G>T uc001uwy.2 - 6 1316 c.443C>A c.(442-444)CCC>CAC p.P148H C13orf23_uc001uwz.2_Missense_Mutation_p.P126H NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 148 p.P148P(1) ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) TCTTCCTTTGGGATATGGATT 0.408 5 57 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70681669 70681669 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:70681669G>C uc001vip.2 - 1 957 c.163C>G c.(163-165)CGC>GGC p.R55G KLHL1_uc010thm.1_Missense_Mutation_p.R55G|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 55 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGAGCAGGCGACTCTGGCTG 0.488 9 28 --- --- --- --- PASS PIBF1 10464 broad.mit.edu 37 13 73372080 73372080 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:73372080G>T uc001vjc.2 + 5 893 c.588G>T c.(586-588)AAG>AAT p.K196N PIBF1_uc001vja.1_Missense_Mutation_p.K196N|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.K196N|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 196 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CATTAAGAAAGGAAATCTGTG 0.299 6 155 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88330288 88330288 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:88330288G>T uc001vln.2 + 2 2864 c.2645G>T c.(2644-2646)TGC>TTC p.C882F SLITRK5_uc010tic.1_Missense_Mutation_p.C641F NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 882 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) AAATTCCCGTGCAGCCCCGCT 0.602 11 42 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109459146 109459146 + Silent SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:109459146T>C uc001vqt.1 + 7 921 c.795T>C c.(793-795)TAT>TAC p.Y265Y MYO16_uc010agk.1_Silent_p.Y287Y|MYO16_uc001vqu.1_Silent_p.Y65Y NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 265 ANK 7. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.Y265H(1) ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAGCCAAATATGGCCAGGTAG 0.328 10 27 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110819570 110819570 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:110819570C>T uc001vqw.3 - 44 4006 c.3884G>A c.(3883-3885)GGT>GAT p.G1295D COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1295 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TGGAGAGCCACCAATACCCTA 0.507 37 94 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111077142 111077142 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:111077142C>A uc001vqx.2 + 5 531 c.242C>A c.(241-243)CCG>CAG p.P81Q NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 81 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAAGGATTCCCGGGACTGCAG 0.592 21 31 --- --- --- --- PASS TFDP1 7027 broad.mit.edu 37 13 114290914 114290914 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr13:114290914G>A uc001vtw.2 + 10 1117 c.905G>A c.(904-906)CGG>CAG p.R302Q TFDP1_uc010tkd.1_Missense_Mutation_p.R207Q|TFDP1_uc010tke.1_Missense_Mutation_p.R207Q|TFDP1_uc001vty.3_Missense_Mutation_p.R302Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R182Q NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 302 DCB2.|Enhances binding of RB protein to E2F. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GTGCTGAAGCGGATGGGCATG 0.507 TSP Lung(29;0.18) 16 64 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20295919 20295919 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:20295919G>C uc010tkv.1 + 1 312 c.312G>C c.(310-312)TTG>TTC p.L104F NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTTTCTTGCACTTCCTTG 0.522 18 89 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389170 20389170 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:20389170C>A uc010tkw.1 + 1 405 c.405C>A c.(403-405)ATC>ATA p.I135I NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 135 Cytoplasmic (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) ATGTGGTCATCATGAGCCGAA 0.443 31 148 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975852 44975852 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:44975852C>A uc001wvn.2 - 1 648 c.339G>T c.(337-339)CAG>CAT p.Q113H NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 113 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTTCTACATCCTGAACACTCT 0.428 46 79 --- --- --- --- PASS GPR65 8477 broad.mit.edu 37 14 88477826 88477826 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:88477826A>T uc001xvv.2 + 2 1165 c.635A>T c.(634-636)CAC>CTC p.H212L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 212 Cytoplasmic (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 GCTGTGCGGCACAATAAAGCC 0.428 22 29 --- --- --- --- PASS SERPINA3 12 broad.mit.edu 37 14 95085702 95085702 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:95085702G>A uc001ydp.2 + 3 893 c.814G>A c.(814-816)GCC>ACC p.A272T SERPINA3_uc001ydo.3_Missense_Mutation_p.A297T|SERPINA3_uc001ydr.2_Intron|SERPINA3_uc001ydq.2_Missense_Mutation_p.A272T|SERPINA3_uc001yds.2_Missense_Mutation_p.A272T|SERPINA3_uc010avg.2_Missense_Mutation_p.A272T NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 272 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CACAGGCAATGCCAGCGCACT 0.547 11 15 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102506598 102506598 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:102506598C>A uc001yks.2 + 63 11880 c.11716C>A c.(11716-11718)CAG>AAG p.Q3906K NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3906 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGCAGAATTCCAGCACTTCTT 0.562 5 70 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103416919 103416919 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr14:103416919C>A uc001ymi.1 - 25 3425 c.3193G>T c.(3193-3195)GTG>TTG p.V1065L CDC42BPB_uc001ymj.1_Missense_Mutation_p.V167L NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1065 Phorbol-ester/DAG-type. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TTGCAGGACACGTGGCAAGCA 0.582 4 4 --- --- --- --- PASS GREM1 26585 broad.mit.edu 37 15 33023383 33023383 + Silent SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:33023383T>A uc001zhe.1 + 2 651 c.492T>A c.(490-492)CCT>CCA p.P164P GREM1_uc001zhd.1_Silent_p.P94P|GREM1_uc010uby.1_Silent_p.P123P NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 164 CTCK. negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) TACAGCCACCTACCAAGAAGA 0.498 30 48 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34109158 34109158 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:34109158C>T uc001zhi.2 + 75 10668 c.10598C>T c.(10597-10599)GCT>GTT p.A3533V RYR3_uc010bar.2_Missense_Mutation_p.A3528V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3533 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGGATTTGGCTGTAAGTACT 0.418 5 15 --- --- --- --- PASS DISP2 85455 broad.mit.edu 37 15 40656136 40656136 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:40656136C>T uc001zlk.1 + 2 519 c.430C>T c.(430-432)CAC>TAC p.H144Y NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 144 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CGCTGTGCAGCACCATGTGGT 0.657 7 22 --- --- --- --- PASS CDAN1 146059 broad.mit.edu 37 15 43024584 43024584 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:43024584C>T uc001zql.2 - 10 1597 c.1480G>A c.(1480-1482)GCA>ACA p.A494T CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 494 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTGCAGGCTGCGGAGAGCTGA 0.517 5 38 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62265707 62265707 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:62265707C>A uc002agz.2 - 26 2637 c.2563G>T c.(2563-2565)GGT>TGT p.G855C VPS13C_uc002aha.2_Missense_Mutation_p.G812C|VPS13C_uc002ahb.1_Missense_Mutation_p.G855C|VPS13C_uc002ahc.1_Missense_Mutation_p.G812C NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 855 protein localization ovary(2) 2 TTTGTACCACCTGAAATAATA 0.328 5 63 --- --- --- --- PASS ZNF609 23060 broad.mit.edu 37 15 64791652 64791652 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:64791652G>A uc002ann.2 + 1 34 c.34G>A c.(34-36)GGA>AGA p.G12R ZNF609_uc010bgy.2_Missense_Mutation_p.G12R NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 12 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CGGAGGGAAAGGAGTGGATGC 0.517 9 104 --- --- --- --- PASS SMAD3 4088 broad.mit.edu 37 15 67457287 67457287 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:67457287C>A uc002aqj.2 + 2 559 c.261C>A c.(259-261)ATC>ATA p.I87I SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.I43I|SMAD3_uc010ujt.1_5'Flank NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 87 MH1. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CTCATGTCATCTACTGCCGCC 0.602 24 46 --- --- --- --- PASS PARP6 56965 broad.mit.edu 37 15 72554003 72554003 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:72554003A>T uc002auc.2 - 8 900 c.441T>A c.(439-441)AAT>AAA p.N147K PARP6_uc002aua.2_Missense_Mutation_p.N12K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.N147K NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 147 NAD+ ADP-ribosyltransferase activity 0 TCAAGAAATCATTGCTCAGAT 0.468 115 214 --- --- --- --- PASS MAN2C1 4123 broad.mit.edu 37 15 75651097 75651097 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:75651097C>T uc002baf.2 - 19 2211 c.2194G>A c.(2194-2196)GTC>ATC p.V732I MAN2C1_uc002bag.2_Missense_Mutation_p.V732I|MAN2C1_uc002bah.2_Missense_Mutation_p.V749I|MAN2C1_uc010bkk.2_Missense_Mutation_p.V633I NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 732 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 TACAAGGGGACATCATCAAAT 0.572 6 17 --- --- --- --- PASS CSPG4 1464 broad.mit.edu 37 15 75981901 75981901 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:75981901C>T uc002baw.2 - 3 1598 c.1505G>A c.(1504-1506)CGC>CAC p.R502H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 502 Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 GCGGGCCTTGCGGTTCACCAC 0.652 14 41 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 76673733 76673733 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:76673733G>A uc002bby.2 - 27 3750 c.3691C>T c.(3691-3693)CTG>TTG p.L1231L SCAPER_uc010bkr.2_Silent_p.L539L|SCAPER_uc002bbx.2_Silent_p.L985L|SCAPER_uc002bbz.1_Silent_p.L1102L NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1230 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 AAAGCAGGCAGATGAAGAGCT 0.413 13 33 --- --- --- --- PASS PSMA4 5685 broad.mit.edu 37 15 78837990 78837990 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:78837990G>T uc002bdu.3 + 7 549 c.391G>T c.(391-393)GGT>TGT p.G131C PSMA4_uc010blf.2_Missense_Mutation_p.G131C|PSMA4_uc002bdv.3_Missense_Mutation_p.G60C|PSMA4_uc002bdw.3_Missense_Mutation_p.G107C|PSMA4_uc002bdx.3_Missense_Mutation_p.G60C NM_002789 NP_002780 P25789 PSA4_HUMAN proteasome alpha 4 subunit isoform 1 131 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity 0 ACGTCCCTTTGGTGTTTCATT 0.403 6 128 --- --- --- --- PASS CHRNA3 1136 broad.mit.edu 37 15 78894195 78894195 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:78894195G>T uc002bec.2 - 5 975 c.789C>A c.(787-789)TTC>TTA p.F263L CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.F263L NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 263 Helical; (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 AGGGCAGGTAGAAGACGAGCA 0.557 17 27 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81636343 81636343 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:81636343G>A uc002bgo.1 - 14 1562 c.1562C>T c.(1561-1563)GCG>GTG p.A521V TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.A521V NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 521 Helical; (Potential). integral to membrane ovary(1)|liver(1) 2 CAGAATGCTCGCCACGGTGAA 0.517 20 31 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81638754 81638754 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:81638754G>T uc002bgo.1 - 12 1224 c.1224C>A c.(1222-1224)TAC>TAA p.Y408* TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Nonsense_Mutation_p.Y408* NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 408 Helical; (Potential). integral to membrane ovary(1)|liver(1) 2 TGATCAGGCTGTAGAGATTTC 0.522 15 33 --- --- --- --- PASS BNC1 646 broad.mit.edu 37 15 83926460 83926460 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr15:83926460G>T uc002bjt.1 - 5 2807 c.2719C>A c.(2719-2721)CCC>ACC p.P907T BNC1_uc010uos.1_Missense_Mutation_p.P895T NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 907 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 ACACAGATGGGGTACTCATCT 0.542 7 167 --- --- --- --- PASS FBXL16 146330 broad.mit.edu 37 16 746775 746775 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:746775C>A uc002cjc.2 - 3 834 c.631G>T c.(631-633)GAG>TAG p.E211* FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_5'Flank NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 211 0 Hepatocellular(780;0.0218) GTGCACACCTCGAGGCCTGCG 0.637 4 19 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3828795 3828795 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:3828795G>C uc002cvv.2 - 9 2051 c.1847C>G c.(1846-1848)CCT>CGT p.P616R CREBBP_uc002cvw.2_Missense_Mutation_p.P578R NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 616 KIX. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCGGGATCAGGTGTTGGGAA 0.433 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 26 62 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9892214 9892214 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:9892214G>T uc002czo.3 - 11 2824 c.2276C>A c.(2275-2277)ACC>AAC p.T759N GRIN2A_uc010uym.1_Missense_Mutation_p.T759N|GRIN2A_uc010uyn.1_Missense_Mutation_p.T602N|GRIN2A_uc002czr.3_Missense_Mutation_p.T759N NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 759 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCATAACCGGTGGTGGCAAA 0.552 11 28 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27629747 27629747 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:27629747G>T uc002dow.2 + 3 89 c.65G>T c.(64-66)GGT>GTT p.G22V NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 22 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TCATTTCAGGGTTACGCTAAG 0.512 15 34 --- --- --- --- PASS MMP2 4313 broad.mit.edu 37 16 55539304 55539304 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:55539304C>G uc002ehz.3 + 13 2244 c.1933C>G c.(1933-1935)CTG>GTG p.L645V MMP2_uc010vhd.1_Missense_Mutation_p.L569V|MMP2_uc010ccc.2_Missense_Mutation_p.L595V|MMP2_uc002eia.3_Missense_Mutation_p.L142V NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 645 Required for inhibitor TIMP2 binding.|Hemopexin-like 4. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GAACCAAAGTCTGAAGAGCGT 0.532 46 99 --- --- --- --- PASS CES1 1066 broad.mit.edu 37 16 55844887 55844887 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:55844887C>A uc002eim.2 - 10 1227 c.1119G>T c.(1117-1119)CTG>CTT p.L373L CES1_uc010ccf.2_Silent_p.L48L|CES1_uc002eil.2_Silent_p.L374L|CES1_uc002ein.2_Silent_p.L372L NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 373 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TCTTCTGGTCCAGTTGCCCTT 0.358 7 26 --- --- --- --- PASS CIAPIN1 57019 broad.mit.edu 37 16 57465090 57465090 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:57465090C>T uc002ell.1 - 7 890 c.719G>A c.(718-720)GGG>GAG p.G240E CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Missense_Mutation_p.G227E|CIAPIN1_uc002eln.1_Intron|CIAPIN1_uc010cda.1_Missense_Mutation_p.G240E|CIAPIN1_uc002elo.1_Intron NM_020313 NP_064709 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 240 anti-apoptosis|apoptosis cytoplasm|nucleolus 0 CCTCTTTTTCCCTTCCCCACA 0.542 37 72 --- --- --- --- PASS PRSS54 221191 broad.mit.edu 37 16 58327644 58327644 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:58327644G>A uc002enf.2 - 3 472 c.77C>T c.(76-78)TCT>TTT p.S26F PRSS54_uc002eng.2_Missense_Mutation_p.S26F|PRSS54_uc010vie.1_5'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 26 proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACTGGTGGAAGAATAGAGAAG 0.572 3 9 --- --- --- --- PASS KCTD19 146212 broad.mit.edu 37 16 67327991 67327991 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:67327991G>T uc002esu.2 - 12 1725 c.1674C>A c.(1672-1674)TCC>TCA p.S558S KCTD19_uc002est.2_Silent_p.S330S|KCTD19_uc010vjj.1_Silent_p.S301S NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 558 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCATCTGGTTGGACCTGACCA 0.572 6 159 --- --- --- --- PASS SF3B3 23450 broad.mit.edu 37 16 70597869 70597869 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:70597869G>T uc002ezf.2 + 18 2590 c.2379G>T c.(2377-2379)GAG>GAT p.E793D NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 793 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TCCACCCTGAGAGTAACAACC 0.458 6 103 --- --- --- --- PASS DHX38 9785 broad.mit.edu 37 16 72142152 72142152 + Silent SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:72142152C>A uc002fcb.2 + 22 3346 c.2991C>A c.(2989-2991)ATC>ATA p.I997I DHX38_uc010vmp.1_Silent_p.I309I NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 997 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) GTGATCAAATCCGGGAGAAGT 0.493 4 30 --- --- --- --- PASS MBTPS1 8720 broad.mit.edu 37 16 84104333 84104333 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:84104333C>T uc002fhi.2 - 13 2144 c.1642G>A c.(1642-1644)GCC>ACC p.A548T MBTPS1_uc002fhh.2_Missense_Mutation_p.A52T NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 548 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TAGGAGAAGGCAACTTCAATG 0.512 18 54 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84270969 84270969 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr16:84270969G>T uc010voc.1 - 2 244 c.123C>A c.(121-123)TAC>TAA p.Y41* KCNG4_uc002fhu.1_Nonsense_Mutation_p.Y41* NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 41 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 GCACCCTCCGGTAGTAAAGGC 0.632 10 19 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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) GGCCATGGCGCGGACGCGGGT 0.627 111 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) 10 17 --- --- --- --- PASS KRBA2 124751 broad.mit.edu 37 17 8272906 8272906 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:8272906C>A uc002glf.1 - 2 1031 c.1025G>T c.(1024-1026)TGG>TTG p.W342L KRBA2_uc002glg.1_Missense_Mutation_p.W259L NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 342 Integrase catalytic. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 TAGGTCTGGCCACAACTCATT 0.463 4 22 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9828857 9828857 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:9828857C>T uc002gmg.1 - 11 1235 c.1074G>A c.(1072-1074)GAG>GAA p.E358E GAS7_uc010vvc.1_Silent_p.E172E|GAS7_uc002gmh.1_Silent_p.E218E|GAS7_uc010vvd.1_Silent_p.E310E|GAS7_uc002gmi.2_Silent_p.E294E|GAS7_uc002gmj.1_Silent_p.E298E|GAS7_uc010coh.1_Silent_p.E298E NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 358 Potential. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TCAGCTTGATCTCCAGCTGCT 0.602 T MLL AML* OREG0024170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 20 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10439902 10439902 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:10439902T>C uc010coi.2 - 17 2047 c.1919A>G c.(1918-1920)AAG>AGG p.K640R uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K640R|MYH2_uc010coj.2_Missense_Mutation_p.K640R NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 640 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ACCACCTTTCTTGGCCCCTCC 0.418 7 13 --- --- --- --- PASS C17orf103 256302 broad.mit.edu 37 17 21147437 21147437 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:21147437G>A uc010vzx.1 - 3 209 c.207C>T c.(205-207)ATC>ATT p.I69I NM_152914 NP_690878 Q8N6N6 GTL3B_HUMAN transcript expressed during hematopoiesis 2 69 0 GGTGCTTGGCGATGCCACGCC 0.672 6 13 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319497 21319497 + Silent SNP C T T rs139358757 byFrequency TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:21319497C>T uc002gyv.1 + 3 1548 c.843C>T c.(841-843)TTC>TTT p.F281F NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 281 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GCCCGCTCTTCGGCATCAGCC 0.607 Prostate(3;0.18) 10 31 --- --- --- --- PASS SLC13A2 9058 broad.mit.edu 37 17 26817737 26817737 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:26817737G>A uc002hbh.2 + 4 454 c.387G>A c.(385-387)ATG>ATA p.M129I SLC13A2_uc010wal.1_Missense_Mutation_p.M86I|SLC13A2_uc010wam.1_Missense_Mutation_p.M85I|SLC13A2_uc010wan.1_Missense_Mutation_p.M178I|SLC13A2_uc010wao.1_Missense_Mutation_p.M86I|SLC13A2_uc002hbi.2_Missense_Mutation_p.M58I NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 129 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TGGGCTTCATGCTGGTCACGG 0.592 15 61 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27009836 27009836 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:27009836C>T uc002hby.2 + 14 1779 c.1689C>T c.(1687-1689)CCC>CCT p.P563P SUPT6H_uc010crt.2_Silent_p.P563P NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 563 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) AGCAGTTTCCCGCGGAGCCCT 0.592 12 54 --- --- --- --- PASS UTP6 55813 broad.mit.edu 37 17 30213082 30213082 + Splice_Site SNP T G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:30213082T>G uc002hgr.2 - 9 705 c.622_splice c.e9-1 p.E208_splice UTP6_uc002hgq.2_Splice_Site_p.E24_splice|UTP6_uc010cst.2_Splice_Site_p.E57_splice|UTP6_uc010wbw.1_Splice_Site_p.E208_splice NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) AGGATTCTCCTAAAGAGTGTT 0.313 38 45 --- --- --- --- PASS CCL7 6354 broad.mit.edu 37 17 32598747 32598747 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:32598747G>A uc002hhz.2 + 3 296 c.226G>A c.(226-228)GCT>ACT p.A76T CCL7_uc010ctf.2_RNA NM_006273 NP_006264 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 precursor 76 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding ovary(1) 1 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) GGAGATCTGTGCTGACCCCAC 0.483 19 77 --- --- --- --- PASS PEX12 5193 broad.mit.edu 37 17 33902880 33902880 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:33902880C>A uc002hjp.2 - 3 1617 c.1001G>T c.(1000-1002)AGG>ATG p.R334M NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 334 Cytoplasmic (Potential).|RING-type; degenerate. protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTGGTGACTCCTCACATAATG 0.448 6 92 --- --- --- --- PASS FBXL20 84961 broad.mit.edu 37 17 37425100 37425100 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:37425100C>A uc010wed.1 - 12 1134 c.913G>T c.(913-915)GAC>TAC p.D305Y FBXL20_uc002hrt.2_Missense_Mutation_p.D305Y|FBXL20_uc010cvu.2_Missense_Mutation_p.D273Y NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 305 LRR 9. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) TCTTCCAGGTCCATCTTTTCA 0.318 39 46 --- --- --- --- PASS MED24 9862 broad.mit.edu 37 17 38209752 38209752 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:38209752C>A uc002htt.2 - 2 413 c.100G>T c.(100-102)GGA>TGA p.G34* MED24_uc010wet.1_RNA|MED24_uc002hts.2_Nonsense_Mutation_p.G59*|MED24_uc002htu.2_Nonsense_Mutation_p.G34*|MED24_uc010cwn.2_Nonsense_Mutation_p.G34*|MED24_uc010weu.1_Translation_Start_Site|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Nonsense_Mutation_p.G59*|MED24_uc010wfc.1_5'Flank NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 34 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 ovary(1) 1 Colorectal(19;0.000442) CAGGTGGCTCCTTTAGGAAAG 0.463 8 337 --- --- --- --- PASS KRT20 54474 broad.mit.edu 37 17 39034579 39034579 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:39034579G>T uc002hvl.2 - 6 999 c.957C>A c.(955-957)GCC>GCA p.A319A NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 319 Rod.|Coil 2. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) TGCTGTAACGGGCCTTGGTCT 0.483 47 56 --- --- --- --- PASS ATXN7L3 56970 broad.mit.edu 37 17 42272026 42272026 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:42272026C>A uc002iga.2 - 11 845 c.754G>T c.(754-756)GAG>TAG p.E252* ATXN7L3_uc010wiv.1_Nonsense_Mutation_p.E34*|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.E259* NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 252 SCA7. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) AGGGAGCTCTCGACCTCTGGA 0.557 4 64 --- --- --- --- PASS C17orf104 284071 broad.mit.edu 37 17 42744414 42744414 + Nonsense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:42744414C>T uc010czv.2 + 5 1135 c.1135C>T c.(1135-1137)CAG>TAG p.Q379* C17orf104_uc002igy.1_Nonsense_Mutation_p.Q213*|C17orf104_uc002igz.3_Nonsense_Mutation_p.Q213*|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Nonsense_Mutation_p.Q213* NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 379 central_nervous_system(1) 1 GCCAGCGAATCAGAAAAAAAT 0.403 38 39 --- --- --- --- PASS CRHR1 1394 broad.mit.edu 37 17 43912064 43912064 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:43912064C>T uc010dap.2 + 14 1534 c.1269C>T c.(1267-1269)GCC>GCT p.A423A CRHR1_uc010wjx.1_Silent_p.A219A|CRHR1_uc002ijp.2_Missense_Mutation_p.P248L|CRHR1_uc002ijm.2_Silent_p.A394A|CRHR1_uc002ijn.2_Silent_p.A354A|CRHR1_uc010dar.2_Silent_p.A380A|CRHR1_uc010dao.2_Silent_p.A293A|CRHR1_uc010daq.2_Silent_p.A219A NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 423 Cytoplasmic (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TGGCCCGTGCCATGTCCATCC 0.632 28 22 --- --- --- --- PASS MAPT 4137 broad.mit.edu 37 17 44101454 44101454 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:44101454G>A uc002ijr.3 + 14 2514 c.2194G>A c.(2194-2196)GGC>AGC p.G732S MAPT_uc010dau.2_Missense_Mutation_p.G750S|MAPT_uc002ijs.3_Missense_Mutation_p.G415S|MAPT_uc002ijx.3_Missense_Mutation_p.G386S|MAPT_uc002ijt.3_Missense_Mutation_p.G357S|MAPT_uc002iju.3_Missense_Mutation_p.G326S|MAPT_uc002ijv.3_Missense_Mutation_p.G333S NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 732 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CTCCTCCACCGGCAGCATCGA 0.637 45 44 --- --- --- --- PASS HOXB9 3219 broad.mit.edu 37 17 46703155 46703155 + Missense_Mutation SNP T G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:46703155T>G uc002inx.2 - 1 681 c.477A>C c.(475-477)AAA>AAC p.K159N NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 159 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTTCGCAAATTTTATTGTCCC 0.567 18 58 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51900675 51900675 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:51900675C>A uc002iua.2 + 1 437 c.281C>A c.(280-282)CCC>CAC p.P94H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 94 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 CCGCCCCCGCCCTTATCCCCC 0.572 44 90 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901022 51901022 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:51901022C>G uc002iua.2 + 1 784 c.628C>G c.(628-630)CAA>GAA p.Q210E uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 210 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 GGAGCCCCCGCAAGAACATCG 0.537 20 39 --- --- --- --- PASS AKAP1 8165 broad.mit.edu 37 17 55184062 55184062 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:55184062G>T uc002iux.2 + 2 1468 c.1237G>T c.(1237-1239)GCC>TCC p.A413S AKAP1_uc010wnl.1_Missense_Mutation_p.A413S|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.A413S NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 413 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) GGCAGCTGTTGCCCCGCCGGA 0.622 12 12 --- --- --- --- PASS SFRS1 6426 broad.mit.edu 37 17 56084313 56084313 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:56084313C>A uc002ivi.2 - 1 395 c.186G>T c.(184-186)GAG>GAT p.E62D SFRS1_uc002ivj.2_Missense_Mutation_p.E62D NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 62 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) ACCGCGGGTCCTCGAACTCAA 0.597 46 45 --- --- --- --- PASS TEX14 56155 broad.mit.edu 37 17 56634390 56634390 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:56634390C>A uc010dcz.1 - 33 4594 c.4476G>T c.(4474-4476)CAG>CAT p.Q1492H TEX14_uc002iwr.1_Missense_Mutation_p.Q1486H|TEX14_uc002iws.1_Missense_Mutation_p.Q1446H|TEX14_uc010dda.1_Missense_Mutation_p.Q1226H NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 1492 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACAAGTCACTCTGATCCAGCA 0.408 43 46 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60742095 60742095 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:60742095A>G uc002jad.2 + 2 707 c.305A>G c.(304-306)AAC>AGC p.N102S MRC2_uc002jac.2_Missense_Mutation_p.N102S NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 102 Extracellular (Potential).|Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCAGGCACCAACACCACGGCC 0.612 23 31 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60821758 60821758 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:60821758C>A uc010ddr.2 - 5 752 c.514G>T c.(514-516)GTG>TTG p.V172L MARCH10_uc002jag.3_Missense_Mutation_p.V172L|MARCH10_uc010dds.2_Missense_Mutation_p.V210L|MARCH10_uc002jah.2_Missense_Mutation_p.V171L NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 172 ligase activity|zinc ion binding 0 GGAACCGGCACCTTTGCAGGC 0.557 21 81 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65900897 65900897 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:65900897G>T uc002jgf.2 + 9 2814 c.2753G>T c.(2752-2754)AGG>ATG p.R918M BPTF_uc002jge.2_Missense_Mutation_p.R1044M|BPTF_uc010wqm.1_Missense_Mutation_p.R981M NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1044 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) CATGTTTATAGGTTTGTTCCT 0.353 5 60 --- --- --- --- PASS KCNJ2 3759 broad.mit.edu 37 17 68171704 68171704 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:68171704T>C uc010dfg.2 + 2 925 c.524T>C c.(523-525)ATC>ACC p.I175T KCNJ2_uc002jir.2_Missense_Mutation_p.I175T NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 175 Helical; Name=M2; (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) GATGCTTTCATCATTGGCGCA 0.488 48 52 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71348719 71348719 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:71348719G>A uc010dfm.2 - 41 5651 c.5651C>T c.(5650-5652)ACG>ATG p.T1884M SDK2_uc002jjt.3_Missense_Mutation_p.T1024M|SDK2_uc002jjv.1_RNA NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1884 Fibronectin type-III 13.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CATGCTGAACGTGTAGGAGCT 0.597 8 49 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73488676 73488676 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr17:73488676C>A uc002jnz.3 + 15 1993 c.1718C>A c.(1717-1719)TCC>TAC p.S573Y KIAA0195_uc010wsa.1_Missense_Mutation_p.S583Y|KIAA0195_uc010wsb.1_Missense_Mutation_p.S213Y|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 573 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTTGATGACTCCAACTGGCAG 0.592 6 73 --- --- --- --- PASS SMCHD1 23347 broad.mit.edu 37 18 2707859 2707859 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr18:2707859C>T uc002klm.3 + 17 2390 c.2201C>T c.(2200-2202)CCA>CTA p.P734L SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 734 chromosome organization ATP binding 0 CAAAAGCTTCCAGGAACAAGC 0.303 11 21 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44560934 44560934 + Missense_Mutation SNP T A A rs148199634 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr18:44560934T>A uc002lcr.1 - 1 1055 c.702A>T c.(700-702)AAA>AAT p.K234N KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 234 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 ACAAGGGGCGTTTTTCCTGGC 0.607 13 13 --- --- --- --- PASS CCDC68 80323 broad.mit.edu 37 18 52586518 52586518 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr18:52586518C>T uc002lfs.2 - 9 945 c.773G>A c.(772-774)CGC>CAC p.R258H CCDC68_uc002lft.2_Missense_Mutation_p.R258H NM_001143829 NP_001137301 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 258 Potential. skin(1) 1 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) GATGACACTGCGCAGGTTCTG 0.468 23 51 --- --- --- --- PASS CLEC4M 10332 broad.mit.edu 37 19 7830871 7830871 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:7830871C>A uc002mih.2 + 5 611 c.493C>A c.(493-495)CTG>ATG p.L165M CLEC4M_uc010xjv.1_Missense_Mutation_p.L160M|CLEC4M_uc002mhy.2_Missense_Mutation_p.L132M|CLEC4M_uc010xjw.1_Missense_Mutation_p.L167M|CLEC4M_uc010dvt.2_Intron|CLEC4M_uc010dvs.2_Missense_Mutation_p.L164M|CLEC4M_uc010xjx.1_Missense_Mutation_p.L137M|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Missense_Mutation_p.L160M|CLEC4M_uc002mia.2_Intron NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 165 Extracellular (Probable).|7 X approximate tandem repeats.|3. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 GCTGACCCGGCTGAAGGCTGC 0.582 4 40 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063042 9063042 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:9063042G>T uc002mkp.2 - 3 24608 c.24404C>A c.(24403-24405)GCC>GAC p.A8135D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8137 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 CATCTCTGTGGCTAAGCTGGT 0.532 34 47 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063975 9063975 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:9063975T>C uc002mkp.2 - 3 23675 c.23471A>G c.(23470-23472)GAG>GGG p.E7824G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7826 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 GGAAGCTAGCTCTGTCTGAAT 0.542 28 36 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9578544 9578544 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:9578544G>T uc002mlp.1 - 10 1289 c.1079C>A c.(1078-1080)CCT>CAT p.P360H ZNF560_uc010dwr.1_Missense_Mutation_p.P254H NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 360 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 AAGGTGGGTAGGGTATCTAAA 0.383 21 32 --- --- --- --- PASS ZNF562 54811 broad.mit.edu 37 19 9764539 9764539 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:9764539C>A uc010xks.1 - 6 530 c.367G>T c.(367-369)GGA>TGA p.G123* ZNF562_uc002mly.2_Nonsense_Mutation_p.G123*|ZNF562_uc002mlx.2_Nonsense_Mutation_p.G51*|ZNF562_uc010xkt.1_Nonsense_Mutation_p.G86*|ZNF562_uc010xku.1_Nonsense_Mutation_p.G54*|ZNF562_uc010xkv.1_Nonsense_Mutation_p.G122*|ZNF562_uc010xkw.1_Nonsense_Mutation_p.G7* NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTTTCCATCCACTGTAGCTT 0.393 4 44 --- --- --- --- PASS C19orf44 84167 broad.mit.edu 37 19 16612105 16612105 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:16612105G>A uc002neh.1 + 2 575 c.502G>A c.(502-504)GCG>ACG p.A168T MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.A168T|C19orf44_uc002neg.2_Missense_Mutation_p.A168T|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 168 0 TGCACAGAACGCGAAGGTCAG 0.493 19 80 --- --- --- --- PASS KIAA1683 80726 broad.mit.edu 37 19 18368721 18368721 + Missense_Mutation SNP G A A rs146173511 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:18368721G>A uc002nin.2 - 4 3028 c.2812C>T c.(2812-2814)CGT>TGT p.R938C PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1125C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R892C|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 938 IQ 2. mitochondrion ovary(2) 2 AGGTAGCCACGGACGCCCGCC 0.682 13 24 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940719 22940719 + Silent SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:22940719A>T uc010xrh.1 - 5 1719 c.1719T>A c.(1717-1719)CTT>CTA p.L573L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGTCTAGTAAGGTGTGAGG 0.378 16 51 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23543751 23543751 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:23543751T>A uc002nre.2 - 4 2143 c.2030A>T c.(2029-2031)AAG>ATG p.K677M ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K645M NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 677 C2H2-type 19. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ATGAGTTATCTTATGATTAGC 0.353 12 77 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544675 23544675 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:23544675T>A uc002nre.2 - 4 1219 c.1106A>T c.(1105-1107)AAG>ATG p.K369M ZNF91_uc010xrj.1_Missense_Mutation_p.K337M NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 369 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ATGAGTTATCTTATGATTAGC 0.353 12 33 --- --- --- --- PASS SLC7A9 11136 broad.mit.edu 37 19 33333196 33333196 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:33333196G>T uc002ntv.3 - 11 1219 c.1102C>A c.(1102-1104)CCT>ACT p.P368T SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.P368T|SLC7A9_uc002ntw.3_Missense_Mutation_p.P159T NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 368 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATGTCACCAGGGATGATATAA 0.388 6 127 --- --- --- --- PASS GPATCH1 55094 broad.mit.edu 37 19 33585143 33585143 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:33585143G>T uc002nug.1 + 5 835 c.521G>T c.(520-522)CGA>CTA p.R174L NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 174 G-patch. catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GTTGGTCCTCGAGTAAAGAGA 0.368 5 103 --- --- --- --- PASS EIF3K 27335 broad.mit.edu 37 19 39116734 39116734 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:39116734G>T uc002oiz.1 + 4 533 c.346G>T c.(346-348)GCC>TCC p.A116S EIF3K_uc010xuh.1_Missense_Mutation_p.A116S|EIF3K_uc010xui.1_Missense_Mutation_p.A29S NM_013234 NP_037366 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, 116 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCATTTCCAGGCCTTCTGGGT 0.567 77 21 --- --- --- --- PASS FBL 2091 broad.mit.edu 37 19 40330880 40330880 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:40330880G>T uc002omn.2 - 4 485 c.371C>A c.(370-372)TCG>TAG p.S124* FBL_uc002omm.1_Nonsense_Mutation_p.S38*|FBL_uc002omo.2_Nonsense_Mutation_p.S123*|FBL_uc010egr.2_Nonsense_Mutation_p.S124* NM_001436 NP_001427 P22087 FBRL_HUMAN fibrillarin 124 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding ovary(1) 1 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CACCGAAATCGAGACTCTCTT 0.478 4 55 --- --- --- --- PASS CYP2A7 1549 broad.mit.edu 37 19 41383104 41383104 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:41383104G>T uc002opm.2 - 7 1694 c.1152C>A c.(1150-1152)TTC>TTA p.F384L CYP2A7_uc002opo.2_Missense_Mutation_p.F384L|CYP2A7_uc002opn.2_Missense_Mutation_p.F333L NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 384 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCTTAGGGAGGAAAAAATCCC 0.527 20 77 --- --- --- --- PASS PSG9 5678 broad.mit.edu 37 19 43772283 43772283 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:43772283C>A uc002owd.3 - 2 182 c.83G>T c.(82-84)TGG>TTG p.W28L PSG9_uc002owe.3_Missense_Mutation_p.W28L|PSG9_uc010xwm.1_Missense_Mutation_p.W28L|PSG9_uc002owf.3_Missense_Mutation_p.W28L|PSG9_uc002owg.2_Missense_Mutation_p.W28L|PSG9_uc002owh.2_Missense_Mutation_p.W28L NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 28 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) GGGCGGGTTCCAGAAGTTTAA 0.498 6 201 --- --- --- --- PASS TRPM4 54795 broad.mit.edu 37 19 49692232 49692232 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:49692232G>T uc002pmw.2 + 14 1975 c.1903G>T c.(1903-1905)GAG>TAG p.E635* TRPM4_uc010emu.2_Nonsense_Mutation_p.E635*|TRPM4_uc010yak.1_Nonsense_Mutation_p.E99*|TRPM4_uc002pmx.2_Nonsense_Mutation_p.E461*|TRPM4_uc010emv.2_Nonsense_Mutation_p.E520*|TRPM4_uc010yal.1_Nonsense_Mutation_p.E281*|TRPM4_uc002pmy.2_5'UTR NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 635 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCGCAGCAGTGAGGTGAGGGC 0.622 6 96 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51958690 51958690 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:51958690G>T uc002pwt.2 - 4 1100 c.1033C>A c.(1033-1035)CTG>ATG p.L345M SIGLEC8_uc010yda.1_Missense_Mutation_p.L236M|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.L252M NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 345 Extracellular (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCATTCTGCAGGGAGAGGCTC 0.632 12 12 --- --- --- --- PASS ZNF432 9668 broad.mit.edu 37 19 52537242 52537242 + Missense_Mutation SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:52537242T>A uc002pyk.2 - 5 2008 c.1690A>T c.(1690-1692)ACA>TCA p.T564S NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TTCTCTTCTGTATGAATTTGC 0.398 60 35 --- --- --- --- PASS ZNF468 90333 broad.mit.edu 37 19 53344201 53344201 + Missense_Mutation SNP T C C rs140223089 TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:53344201T>C uc002qaf.2 - 4 1497 c.1346A>G c.(1345-1347)CAG>CGG p.Q449R ZNF468_uc002qae.2_Missense_Mutation_p.Q396R NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 449 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) TGAATCCCTCTGGAAAGCCTT 0.438 39 50 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55143986 55143986 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr19:55143986C>A uc002qgj.2 + 7 1073 c.733C>A c.(733-735)CAG>AAG p.Q245K LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q245K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q245K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q245K|LILRB1_uc010erq.2_Missense_Mutation_p.Q245K|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 245 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCTGACTCTGCAGTGTGGCTC 0.562 HNSCC(37;0.09) 27 45 --- --- --- --- PASS CENPB 1059 broad.mit.edu 37 20 3766901 3766901 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:3766901A>T uc002wjk.2 - 1 437 c.230T>A c.(229-231)CTC>CAC p.L77H CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 77 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 CAAGCCCTCGAGCTTGTCGTA 0.642 17 18 --- --- --- --- PASS MCM8 84515 broad.mit.edu 37 20 5965433 5965433 + Silent SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:5965433G>T uc002wmi.2 + 15 2117 c.1740G>T c.(1738-1740)GGG>GGT p.G580G MCM8_uc002wmj.2_Silent_p.G564G|MCM8_uc002wmk.2_Silent_p.G620G|MCM8_uc002wml.2_Silent_p.G580G|MCM8_uc010gbp.2_Silent_p.G533G|MCM8_uc002wmm.2_Silent_p.G118G NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 580 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 ATAGAATGGGGAGTGCACTAC 0.358 14 44 --- --- --- --- PASS ANKRD5 63926 broad.mit.edu 37 20 10030131 10030131 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:10030131G>T uc002wno.2 + 7 1307 c.914G>T c.(913-915)CGA>CTA p.R305L uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.R305L|ANKRD5_uc010gbz.2_Missense_Mutation_p.R116L NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 305 calcium ion binding ovary(1)|breast(1) 2 GAAATACGCCGAGCAGAGAGA 0.488 5 104 --- --- --- --- PASS TASP1 55617 broad.mit.edu 37 20 13539738 13539738 + Missense_Mutation SNP T C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:13539738T>C uc002woi.2 - 8 709 c.592A>G c.(592-594)AGA>GGA p.R198G TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.R175G|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 198 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 CTCTTGTTTCTTTTAAATGCA 0.249 16 42 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20505508 20505508 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:20505508C>T uc002wrz.2 - 29 3871 c.3728G>A c.(3727-3729)AGT>AAT p.S1243N RALGAPA2_uc010gcx.2_Missense_Mutation_p.S947N|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S691N|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S15N NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1243 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GTACTCTGCACTTGGTAAAAG 0.358 11 18 --- --- --- --- PASS REM1 28954 broad.mit.edu 37 20 30070289 30070289 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:30070289A>T uc002wwa.2 + 4 907 c.623A>T c.(622-624)GAA>GTA p.E208V NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 208 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GTCTCTGTGGAAGGTGAGCCC 0.622 16 27 --- --- --- --- PASS DDX27 55661 broad.mit.edu 37 20 47849862 47849862 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:47849862G>T uc002xuh.2 + 10 1205 c.1144G>T c.(1144-1146)GAG>TAG p.E382* NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 382 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGAGTACTTTGAGGAGCAGAT 0.557 4 35 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57829217 57829217 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:57829217G>T uc002yan.2 + 5 4453 c.4453G>T c.(4453-4455)GAC>TAC p.D1485Y NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1485 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCCCCACCATGACATTGCTAC 0.493 16 35 --- --- --- --- PASS ZBTB46 140685 broad.mit.edu 37 20 62407098 62407098 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr20:62407098G>A uc002ygv.1 - 3 1356 c.1155C>T c.(1153-1155)GCC>GCT p.A385A ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CCAGCACGTCGGCCTTCAGCG 0.677 OREG0026130 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 35 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10921987 10921987 + Missense_Mutation SNP C G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr21:10921987C>G uc002yip.1 - 18 1404 c.1036G>C c.(1036-1038)GGA>CGA p.G346R TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G328R|TPTE_uc002yir.1_Missense_Mutation_p.G308R|TPTE_uc010gkv.1_Missense_Mutation_p.G208R NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 346 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACCATAGTTCCTGTTCTATCT 0.323 5 40 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45815303 45815303 + Missense_Mutation SNP G C C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr21:45815303G>C uc002zet.1 + 13 2014 c.1801G>C c.(1801-1803)GGA>CGA p.G601R TRPM2_uc002zeu.1_Missense_Mutation_p.G601R|TRPM2_uc002zew.1_Missense_Mutation_p.G601R|TRPM2_uc010gpt.1_Missense_Mutation_p.G601R|TRPM2_uc002zex.1_Missense_Mutation_p.G387R|TRPM2_uc002zey.1_Missense_Mutation_p.G114R NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 601 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCAGGTGCAGGGAGTGAGCCT 0.403 24 41 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18020401 18020401 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr22:18020401G>A uc010gqw.1 + 13 1856 c.1730G>A c.(1729-1731)CGG>CAG p.R577Q CECR2_uc010gqv.1_Missense_Mutation_p.R436Q|CECR2_uc002zml.2_Missense_Mutation_p.R436Q NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 619 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CAGCCCCCGCGGGAGGTGGGC 0.587 17 19 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18022205 18022205 + Silent SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr22:18022205G>A uc010gqw.1 + 15 2433 c.2307G>A c.(2305-2307)AAG>AAA p.K769K CECR2_uc010gqv.1_Silent_p.K628K|CECR2_uc002zml.2_Silent_p.K628K NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 811 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CAGATGAGAAGCCCCACCTGG 0.577 11 15 --- --- --- --- PASS TUBA8 51807 broad.mit.edu 37 22 18609431 18609431 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr22:18609431G>T uc002znv.1 + 4 759 c.686G>T c.(685-687)CGC>CTC p.R229L TUBA8_uc002znr.2_Missense_Mutation_p.R163L|TUBA8_uc002znw.1_Missense_Mutation_p.R253L|TUBA8_uc002znx.1_Missense_Mutation_p.R76L NM_018943 NP_061816 Q9NY65 TBA8_HUMAN tubulin, alpha 8 229 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 AACCTCAACCGCCTCATCAGT 0.522 4 45 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37334270 37334270 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr22:37334270C>T uc003aqa.3 + 14 2637 c.2420C>T c.(2419-2421)TCC>TTC p.S807F CSF2RB_uc003aqc.3_Missense_Mutation_p.S813F NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 807 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) TCCCCAACATCCCCACAGCCC 0.657 14 31 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42609195 42609195 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr22:42609195C>T uc003bcj.1 - 1 2251 c.2117G>A c.(2116-2118)CGC>CAC p.R706H TCF20_uc003bck.1_Missense_Mutation_p.R706H|TCF20_uc003bnt.2_Missense_Mutation_p.R706H NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 706 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GTAACTATAGCGCAGACTTCC 0.507 36 67 --- --- --- --- PASS PARVB 29780 broad.mit.edu 37 22 44514978 44514978 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr22:44514978G>T uc003ben.2 + 4 386 c.334G>T c.(334-336)GAG>TAG p.E112* PARVB_uc003bem.2_Nonsense_Mutation_p.E145*|PARVB_uc010gzn.2_Nonsense_Mutation_p.E60*|PARVB_uc003beo.2_Nonsense_Mutation_p.E75* NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 112 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) GAAGCAGCTGGAGGAAGACCT 0.602 18 39 --- --- --- --- PASS GLRA2 2742 broad.mit.edu 37 X 14708972 14708972 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:14708972G>T uc010nep.2 + 9 1403 c.1071G>T c.(1069-1071)AGG>AGT p.R357S GLRA2_uc010neq.2_Missense_Mutation_p.R357S|GLRA2_uc004cwe.3_Missense_Mutation_p.R357S|GLRA2_uc011mio.1_Missense_Mutation_p.R268S|GLRA2_uc011mip.1_Missense_Mutation_p.R335S NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 357 Cytoplasmic (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GACAGAAGAGGCAGAATAAGG 0.468 29 19 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21545097 21545097 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:21545097C>A uc004czx.1 + 10 1106 c.1070C>A c.(1069-1071)CCT>CAT p.P357H CNKSR2_uc004czw.2_Missense_Mutation_p.P357H|CNKSR2_uc011mjn.1_Missense_Mutation_p.P308H|CNKSR2_uc011mjo.1_Missense_Mutation_p.P357H|CNKSR2_uc004czy.2_Translation_Start_Site NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 357 Poly-Pro.|DUF1170. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CCCCCTCCTCCTGCAGAACCA 0.473 6 154 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21609254 21609254 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:21609254G>T uc004czx.1 + 15 1808 c.1772G>T c.(1771-1773)TGG>TTG p.W591L CNKSR2_uc004czw.2_Missense_Mutation_p.W591L|CNKSR2_uc011mjn.1_Missense_Mutation_p.W542L|CNKSR2_uc011mjo.1_Missense_Mutation_p.W561L|CNKSR2_uc004czy.2_Missense_Mutation_p.W183L NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 591 PH. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 TCACAGAAATGGAAAAAATAT 0.378 5 47 --- --- --- --- PASS MAGEB4 4115 broad.mit.edu 37 X 30260360 30260360 + Silent SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:30260360A>G uc004dcb.2 + 1 192 c.108A>G c.(106-108)GAA>GAG p.E36E MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 36 ovary(1) 1 CAGAGAAAGAAGAGTCTCCTT 0.572 8 6 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37027451 37027451 + Missense_Mutation SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:37027451C>T uc004ddl.1 + 1 982 c.968C>T c.(967-969)TCT>TTT p.S323F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 323 ovary(3) 3 CCAGAGCCTTCTGAGACTGGA 0.612 29 14 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028697 37028697 + Silent SNP C T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:37028697C>T uc004ddl.1 + 1 2228 c.2214C>T c.(2212-2214)CTC>CTT p.L738L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 738 ovary(3) 3 TGTCCCATCTCCGCCCAGAGC 0.632 25 10 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44929602 44929602 + Missense_Mutation SNP G A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:44929602G>A uc004dge.3 + 17 3077 c.2702G>A c.(2701-2703)AGG>AAG p.R901K KDM6A_uc010nhk.2_Missense_Mutation_p.R867K|KDM6A_uc011mkz.1_Missense_Mutation_p.R953K|KDM6A_uc011mla.1_Missense_Mutation_p.R856K|KDM6A_uc011mlb.1_Missense_Mutation_p.R908K|KDM6A_uc011mlc.1_Missense_Mutation_p.R605K|KDM6A_uc011mld.1_Missense_Mutation_p.R540K NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 901 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 AAGGCATGCAGGTTAGTGTGG 0.418 D|N|F|S renal|oesophageal SCC|MM 8 6 --- --- --- --- PASS ZNF81 347344 broad.mit.edu 37 X 47774986 47774986 + Missense_Mutation SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:47774986A>G uc010nhy.1 + 6 1309 c.941A>G c.(940-942)AAG>AGG p.K314R NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 314 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TTTACACAGAAGCCACTACTC 0.353 11 4 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70612518 70612518 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:70612518G>T uc004dzu.3 + 19 2929 c.2878G>T c.(2878-2880)GGT>TGT p.G960C BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G981C|TAF1_uc004dzv.3_Missense_Mutation_p.G134C NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 960 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CACGGGGTGTGGTGAAGGATT 0.488 14 10 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70612519 70612519 + Missense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:70612519G>T uc004dzu.3 + 19 2930 c.2879G>T c.(2878-2880)GGT>GTT p.G960V BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G981V|TAF1_uc004dzv.3_Missense_Mutation_p.G134V NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 960 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) ACGGGGTGTGGTGAAGGATTC 0.488 13 10 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91090613 91090613 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:91090613A>T uc004efk.1 + 1 955 c.110A>T c.(109-111)AAC>ATC p.N37I PCDH11X_uc004efl.1_Missense_Mutation_p.N37I|PCDH11X_uc004efo.1_Missense_Mutation_p.N37I|PCDH11X_uc010nmv.1_Missense_Mutation_p.N37I|PCDH11X_uc004efm.1_Missense_Mutation_p.N37I|PCDH11X_uc004efn.1_Missense_Mutation_p.N37I|PCDH11X_uc004efh.1_Missense_Mutation_p.N37I|PCDH11X_uc004efj.1_Missense_Mutation_p.N37I NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 37 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATGCCAGAAAACGTCCTGATA 0.493 18 14 --- --- --- --- PASS ARMCX1 51309 broad.mit.edu 37 X 100808631 100808631 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:100808631C>A uc004ehv.2 + 4 1089 c.718C>A c.(718-720)CAG>AAG p.Q240K ARMCX1_uc004ehw.2_Missense_Mutation_p.Q240K NM_016608 NP_057692 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 240 ARM 2. integral to membrane binding ovary(3)|pancreas(1) 4 TTCATTTAACCAGAATGCCAT 0.393 5 110 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464313 104464313 + Nonsense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:104464313C>A uc004ema.2 - 3 677 c.565G>T c.(565-567)GGA>TGA p.G189* IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Nonsense_Mutation_p.G189* NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 189 intracellular zinc ion binding ovary(2) 2 CCTTTTCCTCCAGCAGCACCA 0.667 7 9 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120182460 120182460 + Nonsense_Mutation SNP G T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:120182460G>T uc004eto.2 + 1 999 c.922G>T c.(922-924)GGA>TGA p.G308* NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 308 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTTGTTCAGGGATTTGGTAA 0.388 5 77 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 124097479 124097479 + Missense_Mutation SNP A T T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:124097479A>T uc004euj.2 - 1 188 c.124T>A c.(124-126)TCC>ACC p.S42T ODZ1_uc011muj.1_Missense_Mutation_p.S42T|ODZ1_uc010nqy.2_Missense_Mutation_p.S42T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 42 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTCTCCCTGGAGTTGTATGAC 0.423 8 75 --- --- --- --- PASS USP26 83844 broad.mit.edu 37 X 132162097 132162097 + Missense_Mutation SNP C A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:132162097C>A uc010nrm.1 - 6 622 c.152G>T c.(151-153)CGG>CTG p.R51L USP26_uc011mvf.1_Missense_Mutation_p.R51L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 51 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) ATCACTTAGCCGAAAAGTGCT 0.318 15 14 --- --- --- --- PASS PASD1 139135 broad.mit.edu 37 X 150790039 150790039 + Silent SNP T A A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:150790039T>A uc004fev.3 + 6 725 c.393T>A c.(391-393)ATT>ATA p.I131I NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 131 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGAAATTTATTGTGAATGTAA 0.303 3 4 --- --- --- --- PASS MIR767 768215 broad.mit.edu 37 X 151561985 151561985 + RNA SNP A G G TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chrX:151561985A>G hsa-mir-767|MI0003763 - c.17A>G GABRA3_uc010ntk.1_Intron|MIR105-1_hsa-mir-105-1|MI0000111_5'Flank|uc004ffo.2_5'Flank 0 ATGAGCAAAAACCTACAATAT 0.428 5 6 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179631354 179631354 + Frame_Shift_Del DEL C - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr1:179631354delC uc001gnf.1 + 14 2526 c.2276delC c.(2275-2277)TCCfs p.S759fs TDRD5_uc010pnp.1_Frame_Shift_Del_p.S813fs|TDRD5_uc001gnh.1_Frame_Shift_Del_p.S314fs NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 759 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 GATGCTGCCTCCCATCTATTT 0.428 33 27 --- --- --- --- FASTKD1 79675 broad.mit.edu 37 2 170411709 170411710 + Frame_Shift_Del DEL TT - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr2:170411709_170411710delTT uc002uev.3 - 7 1526_1527 c.1138_1139delAA c.(1138-1140)AAGfs p.K380fs FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Frame_Shift_Del_p.K366fs NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 380 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TTGAGTTATCTTCAACAACTCT 0.282 22 12 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49693933 49693933 + Frame_Shift_Del DEL C - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr3:49693933delC uc003cxe.3 + 5 7058 c.6944delC c.(6943-6945)ACCfs p.T2315fs NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2315 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCACAACCACCCCTGCTGCC 0.677 8 4 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155411481 155411481 + Frame_Shift_Del DEL C - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr4:155411481delC uc003inx.2 - 1 1397 c.1027delG c.(1027-1029)GCGfs p.A343fs DCHS2_uc011cik.1_Frame_Shift_Del_p.A343fs NM_001142552 NP_001136024 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 2 1312 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCGCTACCCGCCCCAGGCACT 0.746 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 8 124512380 124512380 + RNA DEL T - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr8:124512380delT uc003yqp.1 - 1 c.1225delA Homo sapiens cDNA FLJ13329 fis, clone OVARC1001795. TGCCATTGGATTTTTTTTTTT 0.393 5 3 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63533335 63533337 + In_Frame_Del DEL TCC - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr11:63533335_63533337delTCC uc010rmv.1 - 2 598_600 c.579_581delGGA c.(577-582)GAGGAA>GAA p.193_194EE>E C11orf95_uc001nxr.2_Intron|C11orf95_uc001nxs.2_In_Frame_Del_p.79_80EE>E NM_001144936 NP_001138408 C9JLR9 CK095_HUMAN hypothetical protein LOC65998 193_194 Glu-rich. intracellular zinc ion binding 0 ctcctcttcttcctcctcctcct 0.532 4 2 --- --- --- --- LRRIQ1 84125 broad.mit.edu 37 12 85459090 85459090 + Frame_Shift_Del DEL G - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr12:85459090delG uc001tac.2 + 9 2553 c.2442delG c.(2440-2442)CTGfs p.L814fs LRRIQ1_uc001tab.1_Frame_Shift_Del_p.L814fs NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 814 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TCTCCACACTGGCAGAGTGTA 0.388 39 21 --- --- --- --- RSPH1 89765 broad.mit.edu 37 21 43913095 43913095 + Frame_Shift_Del DEL A - - TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 73825564-8731-4137-972a-330490aceadc 91a156a5-f36e-4b67-b3b0-5996bf67e0ed g.chr21:43913095delA uc002zbg.2 - 2 254 c.149delT c.(148-150)TTCfs p.F50fs NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 50 MORN 2. meiosis cytosol|nucleus ovary(1) 1 TCTTTTACCGAATTCGTAGCT 0.502 83 49 --- --- --- ---