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 COL8A2 1296 broad.mit.edu 37 1 36565672 36565672 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:36565672C>T uc001bzv.1 - 1 179 c.172G>A c.(172-174)GAG>AAG p.E58K COL8A2_uc001bzw.1_Intron NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 58 Nonhelical region (NC2). angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCTTTGCCCTCACGGAAGGGC 0.662 OREG0013361 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CYP4A11 1579 broad.mit.edu 37 1 47406941 47406941 + Silent SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:47406941G>A uc001cqp.3 - 1 216 c.165C>T c.(163-165)CCC>CCT p.P55P CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 55 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GCCAGTGGGAGGGAGGGCACG 0.597 LHX8 431707 broad.mit.edu 37 1 75614357 75614357 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:75614357G>A uc001dgo.2 + 8 1464 c.800G>A c.(799-801)CGT>CAT p.R267H LHX8_uc001dgq.2_Missense_Mutation_p.R206H NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 267 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTGAGCAGACGTGTGATACAG 0.269 MCOLN2 255231 broad.mit.edu 37 1 85422200 85422200 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:85422200C>T uc001dkm.2 - 4 720 c.479G>A c.(478-480)GGC>GAC p.G160D MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 160 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) GACTTTTAAGCCAATTCTATT 0.373 COL24A1 255631 broad.mit.edu 37 1 86289377 86289379 + In_Frame_Del DEL TTG - - TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:86289377_86289379delTTG uc001dlj.2 - 44 3766_3768 c.3724_3726delCAA c.(3724-3726)CAAdel p.Q1242del COL24A1_uc001dli.2_In_Frame_Del_p.Q378del|COL24A1_uc010osd.1_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1242 Collagen-like 13. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGGGGGTCCTTGTTGTCCAGTG 0.340 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G A A rs77484671 TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 ACP6 51205 broad.mit.edu 37 1 147131584 147131584 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:147131584C>T uc001epr.2 - 3 870 c.406G>A c.(406-408)GGA>AGA p.G136R ACP6_uc009wjj.1_Missense_Mutation_p.G93R NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 136 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) AGTCTCTCTCCCAAGGCAAAC 0.483 FLG 2312 broad.mit.edu 37 1 152275520 152275520 + Missense_Mutation SNP C A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:152275520C>A uc001ezu.1 - 3 11878 c.11842G>T c.(11842-11844)GGC>TGC p.G3948C NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3948 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGGACTGCCACGTGACTGT 0.438 Ichthyosis SH2D1B 117157 broad.mit.edu 37 1 162368720 162368720 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:162368720G>A uc001gbz.1 - 3 478 c.356C>T c.(355-357)ACA>ATA p.T119I SH2D1B_uc001gca.1_Intron NM_053282 NP_444512 O14796 SH21B_HUMAN SH2 domain containing 1B 119 pancreas(1) 1 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TACCACAAATGTTTCCAACTC 0.393 MYOC 4653 broad.mit.edu 37 1 171621317 171621317 + Silent SNP G T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:171621317G>T uc001ghu.2 - 1 457 c.435C>A c.(433-435)CTC>CTA p.L145L MYOC_uc010pmk.1_Silent_p.L87L NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 145 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGTCTCGGAGGAGGTTGCTGT 0.577 RBBP5 5929 broad.mit.edu 37 1 205065948 205065948 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:205065948G>A uc001hbu.1 - 12 1388 c.1258C>T c.(1258-1260)CCG>TCG p.P420S RBBP5_uc010prd.1_Missense_Mutation_p.P455S|RBBP5_uc001hbv.1_Missense_Mutation_p.P420S|RBBP5_uc010pre.1_Missense_Mutation_p.P287S NM_005057 NP_005048 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 420 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding lung(1) 1 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) ACTGCATCCGGTGGGGGGCCG 0.498 SYT14 255928 broad.mit.edu 37 1 210267700 210267700 + Missense_Mutation SNP C T T rs77686387 by1000genomes TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr1:210267700C>T uc009xcv.2 + 5 548 c.476C>T c.(475-477)CCG>CTG p.P159L SYT14_uc001hhs.3_Missense_Mutation_p.P204L|SYT14_uc001hht.3_Missense_Mutation_p.P159L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.P204L|SYT14_uc010pso.1_Missense_Mutation_p.P121L NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 159 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) AGAACACCCCCGCTGGATGAA 0.428 MPP7 143098 broad.mit.edu 37 10 28420514 28420514 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr10:28420514C>T uc001iua.1 - 8 826 c.422G>A c.(421-423)CGT>CAT p.R141H MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.R141H|MPP7_uc009xla.2_Missense_Mutation_p.R141H|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 141 PDZ. 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 TTTGACCAGACGGATTATTTT 0.423 ZNF239 8187 broad.mit.edu 37 10 44052995 44052995 + Missense_Mutation SNP G T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr10:44052995G>T uc001jaw.3 - 2 1186 c.533C>A c.(532-534)CCC>CAC p.P178H ZNF239_uc001jax.3_Missense_Mutation_p.P178H|ZNF239_uc009xmj.2_Missense_Mutation_p.P178H|ZNF239_uc009xmk.2_Missense_Mutation_p.P178H NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 ATGGTCACAGGGTTTCTCCTC 0.428 PTEN 5728 broad.mit.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C T T rs121909231 TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr10:89720852C>T uc001kfb.2 + 9 2034 c.1003C>T c.(1003-1005)CGA>TGA p.R335* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 335 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R335*(21)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.R335R(1)|p.D326_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAAAGCCAACCGATACTTTTC 0.333 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) TCF7L2 6934 broad.mit.edu 37 10 114925317 114925317 + Frame_Shift_Del DEL A - - TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr10:114925317delA uc001lae.3 + 14 1902 c.1395delA c.(1393-1395)AGAfs p.R465fs TCF7L2_uc001lac.3_Frame_Shift_Del_p.R459fs|TCF7L2_uc010qrk.1_Frame_Shift_Del_p.E435fs|TCF7L2_uc010qrl.1_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrm.1_Frame_Shift_Del_p.E441fs|TCF7L2_uc010qrn.1_Frame_Shift_Del_p.E384fs|TCF7L2_uc001lad.3_Frame_Shift_Del_p.E431fs|TCF7L2_uc001lag.3_Frame_Shift_Del_p.E465fs|TCF7L2_uc001laf.3_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qro.1_Frame_Shift_Del_p.E418fs|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Frame_Shift_Del_p.R397fs|TCF7L2_uc010qrs.1_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qrt.1_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qru.1_Frame_Shift_Del_p.E357fs|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 482 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.R465C(1) large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TTTCTAGGAGAAAAAAAAAGT 0.522 KNDC1 85442 broad.mit.edu 37 10 135038289 135038289 + Silent SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr10:135038289C>G uc001llz.1 + 30 5146 c.5145C>G c.(5143-5145)TCC>TCG p.S1715S NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1715 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCGACATTTCCACACTCGCCG 0.582 OR5L2 26338 broad.mit.edu 37 11 55594994 55594994 + Silent SNP A G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr11:55594994A>G uc001nhy.1 + 1 300 c.300A>G c.(298-300)CAA>CAG p.Q100Q NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GCATGGTGCAATTCTACTTGT 0.473 HNSCC(27;0.073) GLYATL1 92292 broad.mit.edu 37 11 58723492 58723492 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr11:58723492C>T uc001nnf.2 + 8 1277 c.901C>T c.(901-903)CCA>TCA p.P301S uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P332S|GLYATL1_uc001nni.1_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.1_Missense_Mutation_p.P301S Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 301 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GAATCTAGTTCCATTTTAGAC 0.388 FAT3 120114 broad.mit.edu 37 11 92532317 92532317 + Silent SNP A G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr11:92532317A>G uc001pdj.3 + 9 6155 c.6138A>G c.(6136-6138)GAA>GAG p.E2046E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2046 Extracellular (Potential).|Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCGTGAAGAACAAGAGTTAT 0.463 TCGA Ovarian(4;0.039) TTC12 54970 broad.mit.edu 37 11 113233171 113233171 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr11:113233171G>A uc001pnu.2 + 19 1768 c.1663G>A c.(1663-1665)GTT>ATT p.V555I TTC12_uc001pnv.2_Missense_Mutation_p.V561I|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.V405I NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 555 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TCTGAAAATTGTTGAGGAGGC 0.428 SRPR 6734 broad.mit.edu 37 11 126137085 126137085 + Missense_Mutation SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr11:126137085C>G uc001qdh.2 - 4 562 c.511G>C c.(511-513)GGG>CGG p.G171R SRPR_uc010sbm.1_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 171 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTCTTGGCCCCCTTTTTTTTG 0.438 ACAD8 27034 broad.mit.edu 37 11 134129623 134129623 + Missense_Mutation SNP G T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr11:134129623G>T uc001qhk.2 + 6 750 c.689G>T c.(688-690)GGC>GTC p.G230V ACAD8_uc009zdc.2_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.G132V|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.G153V|ACAD8_uc001qhl.2_Missense_Mutation_p.G103V|ACAD8_uc010scr.1_Missense_Mutation_p.G192V|ACAD8_uc009zde.1_Missense_Mutation_p.G103V NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 230 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CTCAGCTTTGGCAAGAAGGAG 0.517 CD163L1 283316 broad.mit.edu 37 12 7586265 7586265 + Silent SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:7586265C>T uc001qsy.2 - 3 176 c.150G>A c.(148-150)CTG>CTA p.L50L CD163L1_uc010sge.1_Silent_p.L50L NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 50 SRCR 1.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CTCCATTGACCAGCCTCAACT 0.473 PIK3C2G 5288 broad.mit.edu 37 12 18435035 18435035 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:18435035C>T uc001rdt.2 + 2 136 c.20C>T c.(19-21)ACG>ATG p.T7M PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.T7M|PIK3C2G_uc010sic.1_Translation_Start_Site NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 7 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.T7M(1) lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TCTTGGCAAACGGATCCAAAT 0.353 KRT7 3855 broad.mit.edu 37 12 52642505 52642505 + Silent SNP C A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:52642505C>A uc001saa.1 + 9 1498 c.1371C>A c.(1369-1371)ATC>ATA p.I457I KRT86_uc010snq.1_5'Flank NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 457 Tail. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) CTTATTCCATCCGGACCGCAT 0.647 KRT2 3849 broad.mit.edu 37 12 53039092 53039092 + Missense_Mutation SNP C T T rs142557360 TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:53039092C>T uc001sat.2 - 9 1664 c.1631G>A c.(1630-1632)CGA>CAA p.R544Q NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 544 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) GCCAGACTGTCGGCCTCCAGA 0.572 DCN 1634 broad.mit.edu 37 12 91552214 91552214 + Nonsense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:91552214G>A uc001tbs.2 - 3 491 c.397C>T c.(397-399)CGA>TGA p.R133* DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Nonsense_Mutation_p.R133*|DCN_uc001tbu.2_Nonsense_Mutation_p.R133* NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 133 LRR 3. organ morphogenesis extracellular space p.R133*(1) central_nervous_system(2)|ovary(1)|lung(1) 4 AGATAAAGTCGTTCCAACTTC 0.408 POLR3B 55703 broad.mit.edu 37 12 106824234 106824234 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:106824234G>A uc001tlp.2 + 14 1669 c.1447G>A c.(1447-1449)GAC>AAC p.D483N POLR3B_uc001tlq.2_Missense_Mutation_p.D425N NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 483 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 GTGTCCTTCGGACACTCCTGA 0.522 RIMBP2 23504 broad.mit.edu 37 12 130921520 130921520 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr12:130921520G>A uc001uil.2 - 10 2086 c.1922C>T c.(1921-1923)CCG>CTG p.P641L RIMBP2_uc001uim.2_Missense_Mutation_p.P549L|RIMBP2_uc001uin.1_Missense_Mutation_p.P300L NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 641 Pro-rich. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCCCACGGGCGGCTCCAGCAT 0.711 PARP4 143 broad.mit.edu 37 13 25016086 25016086 + Silent SNP A G G rs113538547 TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr13:25016086A>G uc001upl.2 - 30 3670 c.3564T>C c.(3562-3564)TTT>TTC p.F1188F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1188 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GAATATCAGGAAAAGGCGACT 0.413 RB1 5925 broad.mit.edu 37 13 49030485 49030485 + Missense_Mutation SNP G C C TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr13:49030485G>C uc001vcb.2 + 19 2126 c.1960G>C c.(1960-1962)GTG>CTG p.V654L NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 654 Pocket; binds T and E1A.|Domain B. V -> E (in RB). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6)|p.V654fs*4(1)|p.V654fs*6(1)|p.V654L(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTATAAAAAAGGTTAGTAGAT 0.229 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) ADAM21P1 145241 broad.mit.edu 37 14 70713534 70713534 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr14:70713534G>A uc010ttg.1 - 1 985 c.334C>T c.(334-336)CGG>TGG p.R112W NR_003951 SubName: Full=ADAM21-like protein; 0 ATTTGTTTCCGTTGAGAGAAA 0.358 RIN3 79890 broad.mit.edu 37 14 93118565 93118565 + Missense_Mutation SNP G A A rs145578489 byFrequency TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr14:93118565G>A uc001yap.2 + 6 1323 c.1171G>A c.(1171-1173)GTT>ATT p.V391I RIN3_uc010auk.2_Missense_Mutation_p.V53I|RIN3_uc001yaq.2_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 391 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CAGACGCCGCGTTTCCGAGAG 0.667 RCOR1 23186 broad.mit.edu 37 14 103174815 103174815 + Missense_Mutation SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr14:103174815C>G uc001ymb.2 + 6 665 c.665C>G c.(664-666)TCT>TGT p.S222C NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 222 Interaction with HDAC1.|SANT 1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 CCAGATAAATCTATAGCAAGT 0.299 JAG2 3714 broad.mit.edu 37 14 105617967 105617967 + Silent SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr14:105617967G>A uc001yqg.2 - 8 1553 c.1149C>T c.(1147-1149)GCC>GCT p.A383A JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Silent_p.A383A NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 383 EGF-like 4.|Extracellular (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ACTCACCAAGGGCACAGGTGG 0.652 TMC3 342125 broad.mit.edu 37 15 81624852 81624852 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr15:81624852G>A uc002bgo.1 - 22 3211 c.3211C>T c.(3211-3213)CCG>TCG p.P1071S TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 1071 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 ACGGACCTCGGGAACCTGCCC 0.612 NPRL3 8131 broad.mit.edu 37 16 167362 167362 + Missense_Mutation SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr16:167362C>G uc002cfr.2 - 5 430 c.331G>C c.(331-333)GAT>CAT p.D111H NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Intron|NPRL3_uc010uub.1_Intron|NPRL3_uc010uuc.1_Missense_Mutation_p.D33H|NPRL3_uc002cfs.1_Intron NM_001077350 NP_001070818 Q12980 NPRL3_HUMAN conserved gene telomeric to alpha globin cluster 111 protein binding ovary(1) 1 GGGGAAGGATCTGTTTTGGAG 0.393 SLC6A10P 386757 broad.mit.edu 37 16 32890954 32890954 + Missense_Mutation SNP C A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr16:32890954C>A uc002edh.1 - 3 276 c.100G>T c.(100-102)GTG>TTG p.V34L SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 ACCCAGACCACCACCACGCAC 0.632 CX3CL1 6376 broad.mit.edu 37 16 57416501 57416501 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr16:57416501G>A uc002eli.2 + 3 818 c.751G>A c.(751-753)GGA>AGA p.G251R NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 251 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 GTGGGGTCAGGGACAGAGCCC 0.692 SCN4A 6329 broad.mit.edu 37 17 62018566 62018566 + Silent SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr17:62018566C>T uc002jds.1 - 24 5153 c.5076G>A c.(5074-5076)GGG>GGA p.G1692G NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1692 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CGTCCATTTCCCCAGAGTCAC 0.577 ITGB4 3691 broad.mit.edu 37 17 73745120 73745120 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr17:73745120G>A uc002jpg.2 + 27 3497 c.3310G>A c.(3310-3312)GAC>AAC p.D1104N ITGB4_uc002jph.2_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.2_Missense_Mutation_p.D1104N NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1104 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCATCAGGGACCCAGGTAG 0.552 PRKCSH 5589 broad.mit.edu 37 19 11559895 11559895 + Missense_Mutation SNP T C C TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr19:11559895T>C uc002mrt.2 + 16 1681 c.1345T>C c.(1345-1347)TGG>CGG p.W449R PRKCSH_uc002mru.2_Missense_Mutation_p.W446R|PRKCSH_uc010xlz.1_Missense_Mutation_p.W456R|PRKCSH_uc010dya.2_Missense_Mutation_p.W231R|PRKCSH_uc010dyb.2_Missense_Mutation_p.W446R NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 449 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 TCACAGCACCTGGGGCTCATG 0.662 LRP3 4037 broad.mit.edu 37 19 33695616 33695616 + Silent SNP A C C TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr19:33695616A>C uc010edh.2 + 4 426 c.333A>C c.(331-333)CCA>CCC p.P111P LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 111 Extracellular (Potential).|CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CAGCAGCCCCACCCCGCCAGG 0.662 B3GNT8 374907 broad.mit.edu 37 19 41932546 41932546 + Silent SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr19:41932546C>T uc002oqs.2 - 3 592 c.138G>A c.(136-138)ACG>ACA p.T46T CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 46 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 GGTTGGCTGGCGTGGGGCTTG 0.662 TTC15 51112 broad.mit.edu 37 2 3392024 3392024 + Silent SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr2:3392024C>T uc002qxm.1 + 2 836 c.630C>T c.(628-630)TTC>TTT p.F210F TTC15_uc002qxn.1_Silent_p.F210F|TTC15_uc010ewm.1_Silent_p.F210F|TTC15_uc002qxl.1_Silent_p.F210F NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 210 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) GCACGTTCTTCGGAGACACGG 0.587 GREB1 9687 broad.mit.edu 37 2 11706613 11706613 + Silent SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr2:11706613C>T uc002rbk.1 + 4 585 c.285C>T c.(283-285)TGC>TGT p.C95C GREB1_uc002rbl.2_Silent_p.C95C|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 95 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TAGGGTTTTGCCAGGCCGGGA 0.642 BUB1 699 broad.mit.edu 37 2 111408233 111408233 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr2:111408233C>T uc002tgc.2 - 18 2205 c.2093G>A c.(2092-2094)TGC>TAC p.C698Y BUB1_uc010yxh.1_Missense_Mutation_p.C678Y|BUB1_uc010fkb.2_Missense_Mutation_p.C698Y NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 698 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGTGAGTCTGCAAGCCTCAAC 0.532 SCN9A 6335 broad.mit.edu 37 2 167055444 167055444 + Missense_Mutation SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr2:167055444C>G uc010fpl.2 - 27 6013 c.5672G>C c.(5671-5673)CGT>CCT p.R1891P uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1902 IQ. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TAAGCGGTAACGTCTATAAGC 0.363 COL3A1 1281 broad.mit.edu 37 2 189868848 189868848 + Silent SNP G A A rs113870310 TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr2:189868848G>A uc002uqj.1 + 39 2919 c.2802G>A c.(2800-2802)TCG>TCA p.S934S NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 934 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.S934S(1) central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGAAGGGATCGCCTGGTGCCC 0.488 NBEAL1 65065 broad.mit.edu 37 2 204037528 204037528 + Missense_Mutation SNP A G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr2:204037528A>G uc002uzt.3 + 40 6521 c.6188A>G c.(6187-6189)AAA>AGA p.K2063R NBEAL1_uc002uzs.3_Missense_Mutation_p.K773R NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2063 BEACH. binding ovary(1)|skin(1) 2 GATCTTTCCAAACCAATTGGG 0.328 SIRPA 140885 broad.mit.edu 37 20 1895993 1895993 + Missense_Mutation SNP A G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr20:1895993A>G uc002wfq.2 + 3 688 c.328A>G c.(328-330)AAC>GAC p.N110D SIRPA_uc010zps.1_Missense_Mutation_p.N90D|SIRPA_uc002wfr.2_Missense_Mutation_p.N110D|SIRPA_uc002wfs.2_Missense_Mutation_p.N110D|SIRPA_uc002wft.2_Missense_Mutation_p.N110D NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 110 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CCGCATCGGTAACATCACCCC 0.502 FGD5 152273 broad.mit.edu 37 3 14960268 14960268 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr3:14960268G>A uc003bzc.2 + 13 3607 c.3497G>A c.(3496-3498)CGC>CAC p.R1166H FGD5_uc011avk.1_Missense_Mutation_p.R1166H|FGD5_uc003bzd.2_Missense_Mutation_p.R244H NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1166 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CAGGTCAGCCGCCCTGTGATG 0.602 OR5AC2 81050 broad.mit.edu 37 3 97806681 97806681 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr3:97806681G>A uc011bgs.1 + 1 665 c.665G>A c.(664-666)CGT>CAT p.R222H NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTTATACTCGTGTGCTCTTT 0.373 DTX3L 151636 broad.mit.edu 37 3 122289489 122289489 + Missense_Mutation SNP A G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr3:122289489A>G uc003efk.2 + 4 2212 c.2123A>G c.(2122-2124)CAC>CGC p.H708R DTX3L_uc010hrj.2_Missense_Mutation_p.H196R NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 708 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) GATATTCACCACAAAACATCC 0.423 PDGFRA 5156 broad.mit.edu 37 4 55156661 55156661 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr4:55156661C>T uc003han.3 + 22 3393 c.3062C>T c.(3061-3063)CCT>CTT p.P1021L PDGFRA_uc003haa.2_Missense_Mutation_p.P781L NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1021 Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TACATCATTCCTCTGCCTGAC 0.562 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) FSTL5 56884 broad.mit.edu 37 4 162697175 162697175 + Missense_Mutation SNP T C C TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr4:162697175T>C uc003iqh.2 - 5 897 c.461A>G c.(460-462)GAT>GGT p.D154G FSTL5_uc003iqi.2_Missense_Mutation_p.D153G|FSTL5_uc010iqv.2_Missense_Mutation_p.D153G NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 154 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATTTTGTAAATCTAATAGCAT 0.279 CHSY3 337876 broad.mit.edu 37 5 129243856 129243856 + Missense_Mutation SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr5:129243856C>G uc003kvd.2 + 2 889 c.889C>G c.(889-891)CTT>GTT p.L297V NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 297 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TATTGAAGAGCTTGGAAAGCT 0.473 SLIT3 6586 broad.mit.edu 37 5 168175347 168175347 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr5:168175347G>A uc003mab.2 - 20 2650 c.2230C>T c.(2230-2232)CGC>TGC p.R744C SLIT3_uc010jjg.2_Missense_Mutation_p.R744C NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 744 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGAGGGCGCGGAGCCCCTTG 0.632 PSORS1C1 170679 broad.mit.edu 37 6 31106528 31106528 + Missense_Mutation SNP T C C TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr6:31106528T>C uc003nsl.1 + 5 413 c.139T>C c.(139-141)TGC>CGC p.C47R PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron|PSORS1C2_uc003nso.3_Intron NM_014068 NP_054787 Q9UIG5 PS1C1_HUMAN SEEK1 protein 47 ovary(1) 1 TGACCGACTTTGCCACATGGA 0.557 MRAP2 112609 broad.mit.edu 37 6 84799086 84799086 + Missense_Mutation SNP C A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr6:84799086C>A uc003pkg.3 + 4 694 c.504C>A c.(502-504)AAC>AAA p.N168K MRAP2_uc010kbo.2_Missense_Mutation_p.N82K NM_138409 NP_612418 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 168 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding skin(2) 2 ACATCCCCAACTTTGTGAACA 0.502 ULBP1 80329 broad.mit.edu 37 6 150291168 150291168 + Silent SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr6:150291168C>T uc003qnp.2 + 4 685 c.642C>T c.(640-642)GCC>GCT p.A214A NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 214 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) CCTCTCTGGCCCCAGGCACAA 0.562 PACRG 135138 broad.mit.edu 37 6 163235289 163235289 + Silent SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr6:163235289G>A uc003qua.2 + 3 491 c.267G>A c.(265-267)TCG>TCA p.S89S PACRG_uc003qub.2_Silent_p.S89S|PACRG_uc003quc.2_Silent_p.S89S NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 89 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) AGCATGATTCGAAAGGAAACA 0.517 NPSR1 387129 broad.mit.edu 37 7 34698051 34698051 + Missense_Mutation SNP C A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr7:34698051C>A uc003teg.1 + 1 155 c.27C>A c.(25-27)AGC>AGA p.S9R AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.S9R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S9R|NPSR1_uc003tei.1_Missense_Mutation_p.S9R|NPSR1_uc010kww.1_Missense_Mutation_p.S9R|NPSR1_uc011kar.1_Missense_Mutation_p.S9R NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 9 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) CAGAGGGCAGCTTCGATTCCA 0.572 WBSCR17 64409 broad.mit.edu 37 7 70597924 70597924 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr7:70597924G>A uc003tvy.2 + 1 136 c.136G>A c.(136-138)GCC>ACC p.A46T NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 46 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) CCGGCCGCGCGCCGAGGTGGC 0.677 SRCRB4D 136853 broad.mit.edu 37 7 76033702 76033702 + Missense_Mutation SNP C T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr7:76033702C>T uc003ufb.2 - 2 403 c.55G>A c.(55-57)GGG>AGG p.G19R ZP3_uc003ufc.3_Intron NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 19 extracellular region|membrane scavenger receptor activity pancreas(1) 1 AACCTCCACCCCCAGCGCTTC 0.597 RELN 5649 broad.mit.edu 37 7 103417022 103417022 + Nonsense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr7:103417022G>A uc003vca.2 - 4 686 c.526C>T c.(526-528)CAG>TAG p.Q176* RELN_uc010liz.2_Nonsense_Mutation_p.Q176* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 176 Reelin. 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) TCACACAACTGCTGGGCTAAA 0.403 CTTNBP2 83992 broad.mit.edu 37 7 117432019 117432019 + Missense_Mutation SNP G T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr7:117432019G>T uc003vjf.2 - 4 1323 c.1231C>A c.(1231-1233)CAA>AAA p.Q411K NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 411 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGGTGTTTGAGCGGTGGGA 0.522 GALT 2592 broad.mit.edu 37 9 34648454 34648454 + Splice_Site SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr9:34648454G>A uc003zve.2 + 7 754 c.687_splice c.e7+1 p.K229_splice GALT_uc003zvf.2_Splice_Site_p.K120_splice|GALT_uc003zvg.2_Splice_Site_p.K101_splice|GALT_uc003zvh.2_Splice_Site_p.K181_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.2_5'Flank NM_000155 NP_000146 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) ACTCAGGAAGGTGGGAGAGAG 0.453 Galactosemia TDRD7 23424 broad.mit.edu 37 9 100245441 100245441 + Nonsense_Mutation SNP C G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr9:100245441C>G uc004axj.2 + 15 2948 c.2723C>G c.(2722-2724)TCA>TGA p.S908* TDRD7_uc011lux.1_Nonsense_Mutation_p.S834*|TDRD7_uc010msp.1_Nonsense_Mutation_p.S160*|TDRD7_uc011luy.1_Nonsense_Mutation_p.S228* NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 908 Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) GTCCACTTATCAAAGCCAGGG 0.498 TNFSF15 9966 broad.mit.edu 37 9 117552981 117552981 + Silent SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chr9:117552981G>A uc004bjh.2 - 4 623 c.507C>T c.(505-507)GGC>GGT p.G169G TNFSF15_uc004bjg.2_Silent_p.G110G NM_005118 NP_005109 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, 169 Extracellular (Potential). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding 0 TGTTTGGTCGGCCTGCTTGTC 0.527 CACNA1F 778 broad.mit.edu 37 X 49077514 49077514 + Missense_Mutation SNP G T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:49077514G>T uc004dnb.2 - 18 2409 c.2347C>A c.(2347-2349)CCA>ACA p.P783T CACNA1F_uc010nip.2_Missense_Mutation_p.P772T NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 783 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) TTCTCCTGTGGGAGATCCTTC 0.498 TAF1 6872 broad.mit.edu 37 X 70587386 70587386 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:70587386G>A uc004dzu.3 + 2 269 c.218G>A c.(217-219)GGG>GAG p.G73E BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G73E NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 73 Protein kinase 1. 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 p.G73E(1) 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) GGGGCTTTGGGGCTGGGCAGC 0.522 ATRX 546 broad.mit.edu 37 X 76872167 76872167 + Frame_Shift_Del DEL A - - TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:76872167delA uc004ecp.3 - 22 5712 c.5480delT c.(5479-5481)TTGfs p.L1827fs ATRX_uc004ecq.3_Frame_Shift_Del_p.L1789fs|ATRX_uc004eco.3_Frame_Shift_Del_p.L1612fs NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1827 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTTTGGAGGCAAGAATTTTGT 0.318 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome ARMCX2 9823 broad.mit.edu 37 X 100910782 100910782 + Missense_Mutation SNP T G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:100910782T>G uc004eid.2 - 3 2148 c.1793A>C c.(1792-1794)TAC>TCC p.Y598S ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc010nnt.2_Missense_Mutation_p.Y598S NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 598 integral to membrane binding ovary(6) 6 AGTGCATAAGTAAAAAAGGGA 0.328 RNF128 79589 broad.mit.edu 37 X 106038858 106038858 + Missense_Mutation SNP A G G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:106038858A>G uc004eml.2 + 7 1452 c.1202A>G c.(1201-1203)GAT>GGT p.D401G RNF128_uc004emk.2_Missense_Mutation_p.D375G NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 401 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 GTGGCAGTGGATGTTATTCCT 0.358 LAMP2 3920 broad.mit.edu 37 X 119580241 119580241 + Silent SNP G T T TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:119580241G>T uc004est.3 - 6 963 c.783C>A c.(781-783)TCC>TCA p.S261S LAMP2_uc004ess.3_Silent_p.S261S|LAMP2_uc011mtz.1_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 261 Lumenal (Potential).|Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 AGCTGCCTGTGGAGTGAGTTG 0.423 GRIA3 2892 broad.mit.edu 37 X 122528885 122528885 + Missense_Mutation SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:122528885G>A uc004etq.3 + 7 1110 c.817G>A c.(817-819)GTC>ATC p.V273I GRIA3_uc004etr.3_Missense_Mutation_p.V273I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V257I NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 273 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TTTCCAGATTGTCAACAATGA 0.438 THOC2 57187 broad.mit.edu 37 X 122761607 122761607 + Silent SNP G A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:122761607G>A uc004etu.2 - 23 2726 c.2694C>T c.(2692-2694)AGC>AGT p.S898S THOC2_uc011muh.1_Silent_p.S823S NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 898 Potential. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 CTCGTTCATAGCTGGTGTGTG 0.388 Unknown 0 broad.mit.edu 37 X 155252868 155252868 + Silent SNP T A A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 885f9df7-fc27-43c2-9acc-833c410b2db1 0206ce3d-4c48-4f58-8eeb-07a34adc9fcd g.chrX:155252868T>A uc004fnw.1 + 6 1571 c.912T>A c.(910-912)CCT>CCA p.P304P uc004fnx.3_Silent_p.P90P NM_182905 NP_878908 WAS protein family homolog 1 TAGCCGAGCCTCTCAAGGCAG 0.632