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 PADI6 353238 broad.mit.edu 37 1 17721556 17721556 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:17721556G>C uc001bak.1 + 13 1447 c.1447G>C c.(1447-1449)GAG>CAG p.E483Q NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 475 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCACGTGGATGAGTTCATGTG 0.552 MYCL1 4610 broad.mit.edu 37 1 40366943 40366943 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:40366943G>A uc001cer.1 - 2 381 c.164C>T c.(163-165)GCC>GTC p.A55V MYCL1_uc001ces.1_Missense_Mutation_p.A55V|MYCL1_uc001cet.1_Missense_Mutation_p.A55V NM_001033082 NP_001028254 P12524 MYCL1_HUMAN l-myc-1 proto-oncogene isoform 1 55 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|liver(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AATCCCGGGGGCCGGGTCCCC 0.721 A small cell lung LPPR5 163404 broad.mit.edu 37 1 99470042 99470042 + Silent SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:99470042G>C uc001dsb.2 - 1 408 c.186C>G c.(184-186)GCC>GCG p.A62A uc001dsd.1_RNA|LPPR5_uc001dsc.2_Silent_p.A62A NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 62 Helical; (Potential). integral to membrane hydrolase activity 0 CGGGGGGCACGGCGCTGCTGT 0.697 LOC200030 200030 broad.mit.edu 37 1 148016443 148016443 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:148016443C>A uc001eqf.2 - 13 1854 c.1819G>T c.(1819-1821)GTG>TTG p.V607L LOC200030_uc001eqe.2_Missense_Mutation_p.V158L|LOC200030_uc001eqg.2_Missense_Mutation_p.V158L|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqq.2_Missense_Mutation_p.V267L|NBPF14_uc001eqs.1_Missense_Mutation_p.V146L NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 607 NBPF 3. cytoplasm 0 TCCTTTTTCACTTGATCCCAC 0.463 RORC 6097 broad.mit.edu 37 1 151787828 151787828 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:151787828C>G uc001ezh.2 - 5 480 c.372G>C c.(370-372)CAG>CAC p.Q124H RORC_uc001ezg.2_Missense_Mutation_p.Q103H|RORC_uc010pdo.1_Missense_Mutation_p.Q178H|RORC_uc010pdp.1_Missense_Mutation_p.Q124H NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 124 Hinge (Potential).|Poly-Gln. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) gctgttgccgctgctgcagct 0.498 RHBG 57127 broad.mit.edu 37 1 156351872 156351872 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:156351872C>A uc010pho.1 + 7 1030 c.992C>A c.(991-993)TCA>TAA p.S331* RHBG_uc010phm.1_Missense_Mutation_p.Q164K|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Nonsense_Mutation_p.S262*|RHBG_uc009wrz.2_Nonsense_Mutation_p.S299*|RHBG_uc001for.2_Nonsense_Mutation_p.S301* NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 331 Cytoplasmic (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) ATCCTTGAATCAAAATTCAAA 0.582 GPR161 23432 broad.mit.edu 37 1 168066053 168066053 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:168066053G>C uc001gfc.2 - 5 1106 c.792C>G c.(790-792)AAC>AAG p.N264K GPR161_uc001gfb.2_Missense_Mutation_p.N132K|GPR161_uc010pll.1_Missense_Mutation_p.N174K|GPR161_uc010plm.1_Missense_Mutation_p.N150K|GPR161_uc009wvo.2_Missense_Mutation_p.N281K|GPR161_uc001gfd.2_Missense_Mutation_p.N264K|GPR161_uc010pln.1_Missense_Mutation_p.N284K|GPR161_uc001gfe.1_Missense_Mutation_p.N264K NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 264 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) CTTTGCACTGGTTGGCCGAGT 0.607 IGFN1 91156 broad.mit.edu 37 1 201193974 201193974 + Silent SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:201193974T>G uc001gwc.2 + 10 2710 c.1938T>G c.(1936-1938)GTT>GTG p.V646V IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 GGAAGGAGGTTGCCCACAGCT 0.607 CD46 4179 broad.mit.edu 37 1 207933057 207933057 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:207933057C>T uc001hgc.2 + 4 619 c.463C>T c.(463-465)CCA>TCA p.P155S CD46_uc001hgd.2_Missense_Mutation_p.P155S|CD46_uc001hge.2_Missense_Mutation_p.P155S|CD46_uc001hgf.2_Missense_Mutation_p.P155S|CD46_uc001hgg.2_Missense_Mutation_p.P155S|CD46_uc001hgh.2_Missense_Mutation_p.P155S|CD46_uc001hgi.2_Missense_Mutation_p.P155S|CD46_uc001hgj.2_Missense_Mutation_p.P155S|CD46_uc001hgk.2_Missense_Mutation_p.P155S|CD46_uc001hgl.2_Missense_Mutation_p.P155S|CD46_uc001hgm.2_Missense_Mutation_p.P155S|CD46_uc001hgn.2_Missense_Mutation_p.P155S|CD46_uc001hgo.2_Missense_Mutation_p.P155S|CD46_uc001hgp.2_Missense_Mutation_p.P155S NM_002389 NP_002380 P15529 MCP_HUMAN CD46 antigen, complement regulatory protein 155 Extracellular (Potential).|Sushi 2. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity large_intestine(2)|lung(1)|central_nervous_system(1) 4 CGGTAAGCCCCCAATATGTGA 0.214 C10orf53 282966 broad.mit.edu 37 10 50916559 50916559 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr10:50916559G>A uc001jid.1 + 3 430 c.370G>A c.(370-372)GGA>AGA p.G124R NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform a Error:Variant_position_missing_in_Q8N6V4_after_alignment 0 all_neural(218;0.107) ggcccagattggatcatgtat 0 CDH23 64072 broad.mit.edu 37 10 73494045 73494045 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr10:73494045T>C uc001jrx.3 + 32 4530 c.4153T>C c.(4153-4155)TAT>CAT p.Y1385H C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.Y193H NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1385 Cadherin 13.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGGCGACTTCTATACCTTGAC 0.622 CD81 975 broad.mit.edu 37 11 2415369 2415369 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:2415369G>C uc001lwf.1 + 3 459 c.226G>C c.(226-228)GGC>CGC p.G76R CD81_uc001lwg.1_Missense_Mutation_p.G69R|CD81_uc001lwh.1_5'Flank NM_004356 NP_004347 P60033 CD81_HUMAN CD81 antigen 76 Helical; (Potential). activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) GATGTTCGTTGGCTTCCTGGG 0.662 TRPM5 29850 broad.mit.edu 37 11 2436698 2436698 + Missense_Mutation SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:2436698A>C uc001lwm.3 - 9 1141 c.1132T>G c.(1132-1134)TGT>GGT p.C378G TRPM5_uc010qxl.1_Missense_Mutation_p.C378G|TRPM5_uc009ydn.2_Missense_Mutation_p.C380G NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 378 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TCCAGGTCACAGGACTTGGCG 0.632 OR4A15 81328 broad.mit.edu 37 11 55136271 55136271 + Silent SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:55136271T>G uc010rif.1 + 1 912 c.912T>G c.(910-912)ACT>ACG p.T304T NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 304 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TAGTTCTAACTTTTATAACTC 0.383 INTS5 80789 broad.mit.edu 37 11 62416240 62416240 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:62416240G>C uc001nud.2 - 2 1365 c.1312C>G c.(1312-1314)CTA>GTA p.L438V GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 438 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 AGCTGGATTAGCCGGTCACAA 0.637 C11orf2 738 broad.mit.edu 37 11 64875938 64875938 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:64875938C>G uc001ocr.1 + 5 1035 c.995C>G c.(994-996)GCA>GGA p.A332G C11orf2_uc001ocs.1_Missense_Mutation_p.A208G NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 332 lipid transport|protein transport Golgi apparatus|integral to membrane 0 CAGGGCCCAGCAGGTGCCGAG 0.692 KLC2 64837 broad.mit.edu 37 11 66026228 66026228 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:66026228C>G uc010rov.1 + 2 406 c.163C>G c.(163-165)CAG>GAG p.Q55E KLC2_uc010row.1_Missense_Mutation_p.Q55E|KLC2_uc009yra.2_Missense_Mutation_p.Q55E|KLC2_uc001ohb.2_Missense_Mutation_p.Q55E|KLC2_uc010rox.1_Missense_Mutation_p.Q55E|KLC2_uc001ohc.2_Missense_Mutation_p.Q55E|KLC2_uc001ohd.2_Missense_Mutation_p.Q55E|KLC2_uc001ohe.1_5'Flank NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 55 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 GCCTGGCTCGCAGGAGCGCTG 0.667 OREG0021097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PHOX2A 401 broad.mit.edu 37 11 71950893 71950893 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:71950893T>C uc001osh.3 - 3 927 c.755A>G c.(754-756)AAG>AGG p.K252R NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 252 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGCCAAGCCTTAAGTAGTTC 0.731 GPR83 10888 broad.mit.edu 37 11 94129639 94129639 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:94129639T>G uc001pet.2 - 2 611 c.439A>C c.(439-441)AGC>CGC p.S147R NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 147 Helical; Name=3; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCAAAGCGGCTGACATGGCAC 0.542 HMBS 3145 broad.mit.edu 37 11 118963856 118963856 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:118963856G>A uc001puz.1 + 14 1106 c.949G>A c.(949-951)GGC>AGC p.G317S HMBS_uc001pvc.1_Missense_Mutation_p.G262S|HMBS_uc009zap.1_Missense_Mutation_p.G300S|HMBS_uc001pva.1_Missense_Mutation_p.G277S|HMBS_uc001pvb.1_Missense_Mutation_p.G286S|HMBS_uc001pvd.1_Missense_Mutation_p.G300S|HMBS_uc001pve.1_Missense_Mutation_p.G260S|HMBS_uc001pvf.1_Missense_Mutation_p.G300S NM_000190 NP_000181 P08397 HEM3_HUMAN hydroxymethylbilane synthase isoform 1 317 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) ACAGTTGGTAGGCATCACTGC 0.502 Porphyria_Acute_Intermittent TEAD4 7004 broad.mit.edu 37 12 3126584 3126584 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr12:3126584G>C uc010sej.1 + 6 649 c.372G>C c.(370-372)AAG>AAC p.K124N TEAD4_uc010sek.1_Intron|TEAD4_uc001qln.2_5'UTR NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 125 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CTAAGGACAAGGCCCTGCAGA 0.567 CD163 9332 broad.mit.edu 37 12 7649454 7649454 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr12:7649454T>C uc001qsz.3 - 5 1182 c.1054A>G c.(1054-1056)AAG>GAG p.K352E CD163_uc001qta.3_Missense_Mutation_p.K352E|CD163_uc009zfw.2_Missense_Mutation_p.K352E NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 352 SRCR 3.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CAATAATGCTTTCCCCATTCA 0.353 SLC2A3 6515 broad.mit.edu 37 12 8082432 8082432 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr12:8082432G>C uc001qtr.2 - 6 971 c.709C>G c.(709-711)CAA>GAA p.Q237E SLC2A3_uc001qts.2_3'UTR NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 237 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TGGATGTCTTGGGATACATCC 0.483 BIN2 51411 broad.mit.edu 37 12 51685395 51685396 + Missense_Mutation DNP GG GG TT TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr12:51685395_51685396GG>TT uc001ryg.2 - 10 1546_1547 c.1494_1495CC>AA c.(1492-1497)TCCCCC>TCAACC p.P499T BIN2_uc009zlz.2_Missense_Mutation_p.P467T|BIN2_uc001ryh.2_Missense_Mutation_p.P375T|BIN2_uc010sng.1_Missense_Mutation_p.P473T NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 499 cytoplasm protein binding ovary(1) 1 ATTAAGGTGGGGGAAGTACAAA 0.317 KRT84 3890 broad.mit.edu 37 12 52779341 52779341 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr12:52779341G>T uc001sah.1 - 1 77 c.29C>A c.(28-30)TCT>TAT p.S10Y NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 10 Head. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CCGGTGACCAGAGCTGACTCG 0.572 C12orf50 160419 broad.mit.edu 37 12 88379779 88379779 + Missense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr12:88379779T>A uc001tam.1 - 11 1142 c.974A>T c.(973-975)AAA>ATA p.K325I C12orf50_uc001tan.2_Missense_Mutation_p.K340I NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 325 skin(2)|ovary(1) 3 ATTTCGATTTTTATTATTGCG 0.483 NBEA 26960 broad.mit.edu 37 13 35926334 35926334 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr13:35926334A>G uc001uvb.2 + 38 6259 c.6053A>G c.(6052-6054)GAA>GGA p.E2018G NBEA_uc010abi.2_Missense_Mutation_p.E674G NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2018 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGAGAGGAAGAAAAGATGTGT 0.338 NBEA 26960 broad.mit.edu 37 13 36229748 36229748 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr13:36229748G>C uc001uvb.2 + 54 8367 c.8161G>C c.(8161-8163)GAT>CAT p.D2721H NBEA_uc010abi.2_Missense_Mutation_p.D1377H|NBEA_uc010tef.1_Missense_Mutation_p.D514H|NBEA_uc001uvd.2_Missense_Mutation_p.D299H NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2721 WD 2. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGCCATTGGGATGTGGTCAC 0.463 TBC1D4 9882 broad.mit.edu 37 13 76055892 76055892 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr13:76055892G>A uc001vjl.1 - 1 359 c.12C>T c.(10-12)CCC>CCT p.P4P TBC1D4_uc010aer.2_Silent_p.P4P|TBC1D4_uc010aes.2_Silent_p.P4P NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 4 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GAATGCAGCTGGGCGGCTCCA 0.731 CUL4A 8451 broad.mit.edu 37 13 113887618 113887618 + Silent SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr13:113887618T>C uc010tjy.1 + 7 651 c.640T>C c.(640-642)TTG>CTG p.L214L CUL4A_uc010tjx.1_Silent_p.L114L|CUL4A_uc010agu.2_Silent_p.L75L|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 214 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CCGGAGCCTGTTGCGGAGCCT 0.542 FSCB 84075 broad.mit.edu 37 14 44974327 44974327 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr14:44974327C>A uc001wvn.2 - 1 2173 c.1864G>T c.(1864-1866)GTT>TTT p.V622F NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 622 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGAGGCTGAACTTCAGCGGGG 0.632 NRXN3 9369 broad.mit.edu 37 14 79433613 79433613 + Missense_Mutation SNP G G A rs140528152 TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr14:79433613G>A uc001xun.2 + 10 2212 c.1721G>A c.(1720-1722)CGC>CAC p.R574H NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R699H NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 947 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AACAGTGACCGCCCCCTGAAT 0.423 DLL4 54567 broad.mit.edu 37 15 41222285 41222285 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr15:41222285C>A uc001zng.1 + 2 627 c.307C>A c.(307-309)CTC>ATC p.L103I NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 103 Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCGCAACCCTCTCCAACTGCC 0.682 OREG0023070 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SPTBN5 51332 broad.mit.edu 37 15 42159828 42159828 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr15:42159828T>G uc001zos.2 - 35 6448 c.6115A>C c.(6115-6117)ACC>CCC p.T2039P hsa-mir-4310|MI0015840_5'Flank NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2074 Spectrin 17. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) AAGGCACTGGTTTTCAGGGAG 0.572 ANKDD1A 348094 broad.mit.edu 37 15 65209596 65209596 + Silent SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr15:65209596G>T uc002aoa.2 + 3 179 c.150G>T c.(148-150)GTG>GTT p.V50V ANKDD1A_uc002anx.1_Silent_p.V50V|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Silent_p.V20V NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 50 ANK 2. signal transduction ovary(1) 1 TGGGCAGGGTGGCCCTGCACT 0.677 IGDCC3 9543 broad.mit.edu 37 15 65623827 65623827 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr15:65623827A>G uc002aos.2 - 8 1571 c.1319T>C c.(1318-1320)GTG>GCG p.V440A IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 440 Extracellular (Potential).|Fibronectin type-III 1. ovary(3) 3 GGACACACGCACCTCAGTGGA 0.647 CHRNB4 1143 broad.mit.edu 37 15 78927920 78927920 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr15:78927920C>T uc002bed.1 - 2 177 c.65G>A c.(64-66)CGC>CAC p.R22H CHRNB4_uc002bee.1_Missense_Mutation_p.R22H|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 22 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 ATTGGCCACGCGGCAGTTCCC 0.587 AGBL1 123624 broad.mit.edu 37 15 86838542 86838542 + Silent SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr15:86838542A>G uc002blz.1 + 16 2219 c.2139A>G c.(2137-2139)CAA>CAG p.Q713Q AGBL1_uc002bma.1_Silent_p.Q444Q|AGBL1_uc002bmb.1_Silent_p.Q407Q NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 713 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ACTTCCGGCAAGATGTTCTCT 0.483 WDR90 197335 broad.mit.edu 37 16 708999 708999 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr16:708999C>A uc002cii.1 + 24 3053 c.2999C>A c.(2998-3000)GCC>GAC p.A1000D WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A527D|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.A174D|WDR90_uc002cin.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1000 WD 11. ovary(1) 1 Hepatocellular(780;0.0218) GATGTCCTGGCCCCTACTGAG 0.637 ZNF423 23090 broad.mit.edu 37 16 49670809 49670809 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr16:49670809A>G uc002efs.2 - 5 2552 c.2254T>C c.(2254-2256)TGC>CGC p.C752R ZNF423_uc010vgn.1_Missense_Mutation_p.C635R NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 752 C2H2-type 18. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CAGGCCGTGCAGCGGTACATC 0.587 NFAT5 10725 broad.mit.edu 37 16 69727070 69727070 + Silent SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr16:69727070A>C uc002exm.1 + 12 4496 c.3288A>C c.(3286-3288)CCA>CCC p.P1096P NFAT5_uc002exi.2_Silent_p.P1020P|NFAT5_uc002exj.1_Silent_p.P1020P|NFAT5_uc002exk.1_Silent_p.P1020P|NFAT5_uc002exl.1_Silent_p.P1114P|NFAT5_uc002exn.1_Silent_p.P1113P|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1096 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCATAGTCCAAATCCTATTG 0.438 ITGAE 3682 broad.mit.edu 37 17 3657208 3657208 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:3657208C>T uc002fwo.3 - 13 1495 c.1396G>A c.(1396-1398)GCC>ACC p.A466T NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 466 FG-GAP 4.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGCAGCACGGCCACAGCGTAA 0.632 MYO15A 51168 broad.mit.edu 37 17 18022229 18022229 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:18022229G>A uc010vxh.1 + 2 453 c.115G>A c.(115-117)GGC>AGC p.G39S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 39 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCTGTTCATGGGCTTCCGCGA 0.458 DHX8 1659 broad.mit.edu 37 17 41598738 41598738 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:41598738A>G uc002idu.1 + 21 3141 c.3068A>G c.(3067-3069)GAT>GGT p.D1023G DHX8_uc010wig.1_Missense_Mutation_p.D1023G NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1023 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GCTTGGCAGGATAAACAAGCC 0.493 TMUB2 79089 broad.mit.edu 37 17 42268059 42268059 + Missense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:42268059A>T uc002ifo.2 + 4 950 c.793A>T c.(793-795)AGC>TGC p.S265C TMUB2_uc002ifp.2_Missense_Mutation_p.S245C|TMUB2_uc010wiu.1_Missense_Mutation_p.S208C|TMUB2_uc002ifq.2_Missense_Mutation_p.S265C|TMUB2_uc002ifr.2_3'UTR|TMUB2_uc002ifs.2_Missense_Mutation_p.S96C|TMUB2_uc002ift.2_Missense_Mutation_p.S245C|TMUB2_uc002ifu.2_3'UTR|TMUB2_uc002ifv.2_Missense_Mutation_p.S245C|TMUB2_uc002ifx.2_3'UTR|TMUB2_uc002ify.2_RNA NM_001076674 NP_001070142 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain 265 S -> R (in Ref. 5; CAD38755). integral to membrane lung(1) 1 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) TGAGCCACCCAGCCTTGGTGT 0.587 MFSD11 79157 broad.mit.edu 37 17 74740462 74740462 + Silent SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:74740462T>A uc002jta.2 + 8 1528 c.555T>A c.(553-555)GTT>GTA p.V185V MFSD11_uc002jtb.2_Silent_p.V185V|MFSD11_uc010dha.2_Silent_p.V133V|MFSD11_uc002jtc.2_Silent_p.V185V|MFSD11_uc002jtd.3_Silent_p.V185V|MFSD11_uc010dhb.2_Silent_p.V133V|MFSD11_uc002jte.2_Silent_p.V185V NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 185 Helical; (Potential). integral to membrane ovary(1) 1 TGGGGACAGTTCTATTCTTTC 0.418 CDH2 1000 broad.mit.edu 37 18 25582961 25582961 + Silent SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr18:25582961T>C uc002kwg.2 - 7 1479 c.1020A>G c.(1018-1020)GAA>GAG p.E340E CDH2_uc010xbn.1_Silent_p.E309E NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 340 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GTTGGCTTACTTCTCGATCAA 0.398 PTBP1 5725 broad.mit.edu 37 19 799436 799436 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr19:799436G>C uc002lpr.2 + 2 138 c.32G>C c.(31-33)GGT>GCT p.G11A PTBP1_uc002lpp.2_Missense_Mutation_p.G11A|PTBP1_uc002lpq.2_Missense_Mutation_p.G11A|PTBP1_uc002lps.2_Missense_Mutation_p.G11A|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_5'UTR NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 11 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATAGCCGTTGGTACAAAGGTA 0.597 OREG0025110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DNAJB1 3337 broad.mit.edu 37 19 14629110 14629110 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr19:14629110C>T uc002myz.1 - 1 92 c.52G>A c.(52-54)GAG>AAG p.E18K DNAJB1_uc010xnr.1_Intron NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 18 J. chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) TTGATCTCCTCGTCCGACGCG 0.701 COPE 11316 broad.mit.edu 37 19 19030124 19030124 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr19:19030124C>T uc002nkk.2 - 1 76 c.34G>A c.(34-36)GGC>AGC p.G12S COPE_uc002nkl.2_Missense_Mutation_p.G12S|COPE_uc002nkm.2_Missense_Mutation_p.G12S|COPE_uc002nkn.2_Missense_Mutation_p.G12S|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkq.1_5'Flank|DDX49_uc002nkr.1_5'Flank|DDX49_uc002nks.1_5'Flank|DDX49_uc002nkt.1_5'Flank NM_007263 NP_009194 O14579 COPE_HUMAN epsilon subunit of coatomer protein complex 12 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity 0 TCCCCGGAGCCGCCGGAGGCC 0.647 ZNF682 91120 broad.mit.edu 37 19 20117898 20117898 + Nonsense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr19:20117898G>C uc002noq.2 - 4 536 c.413C>G c.(412-414)TCA>TGA p.S138* ZNF682_uc002noo.2_Nonsense_Mutation_p.S106*|ZNF682_uc002nop.2_Nonsense_Mutation_p.S106*|ZNF682_uc010eck.2_Nonsense_Mutation_p.S62* NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 AGGTAGAGTTGACAAACATTG 0.323 ZNF536 9745 broad.mit.edu 37 19 30935410 30935410 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr19:30935410A>G uc002nsu.1 + 2 1079 c.941A>G c.(940-942)GAG>GGG p.E314G ZNF536_uc010edd.1_Missense_Mutation_p.E314G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 314 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGGAGGAGGAGCTCATCAGC 0.652 RYR1 6261 broad.mit.edu 37 19 39063921 39063921 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr19:39063921G>C uc002oit.2 + 96 14233 c.14103G>C c.(14101-14103)CAG>CAC p.Q4701H RYR1_uc002oiu.2_Missense_Mutation_p.Q4696H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4701 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGAAGGGGCAGTGGGACCGAC 0.632 NR4A2 4929 broad.mit.edu 37 2 157186462 157186462 + Nonsense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr2:157186462G>T uc002tyz.3 - 3 659 c.237C>A c.(235-237)TAC>TAA p.Y79* NR4A2_uc002tyx.3_Nonsense_Mutation_p.Y16*|NR4A2_uc010zcf.1_Nonsense_Mutation_p.Y79*|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 79 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GGGGCATTTGGTACAAGCAAG 0.527 DLX1 1745 broad.mit.edu 37 2 172950706 172950706 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr2:172950706C>G uc002uhl.2 + 1 499 c.301C>G c.(301-303)CTG>GTG p.L101V DLX1_uc010fqj.1_Missense_Mutation_p.L101V|DLX1_uc002uhm.2_Missense_Mutation_p.L101V NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 101 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCAGAGCCGCCTGGAGGACCC 0.433 TTLL4 9654 broad.mit.edu 37 2 219617528 219617528 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr2:219617528G>T uc002viy.2 + 17 3389 c.3019G>T c.(3019-3021)GTT>TTT p.V1007F TTLL4_uc010zkl.1_Missense_Mutation_p.V842F|TTLL4_uc010fvx.2_Missense_Mutation_p.V943F|TTLL4_uc010zkm.1_Missense_Mutation_p.V210F NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1007 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) ACCAGATGATGTTCGGATTCT 0.478 RSPO4 343637 broad.mit.edu 37 20 947920 947920 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr20:947920G>T uc002wej.2 - 3 403 c.306C>A c.(304-306)GAC>GAA p.D102E RSPO4_uc002wek.2_Missense_Mutation_p.D102E NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 102 FU. Wnt receptor signaling pathway extracellular region heparin binding 0 GGATGCAGAAGTCCTGGCTGA 0.602 SFRS15 57466 broad.mit.edu 37 21 33064675 33064675 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr21:33064675A>G uc002ypd.2 - 13 2027 c.1601T>C c.(1600-1602)ATT>ACT p.I534T SFRS15_uc002ype.2_Missense_Mutation_p.I534T|SFRS15_uc010glu.2_Missense_Mutation_p.I519T|SFRS15_uc002ypf.1_Missense_Mutation_p.I208T NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 534 RRM. nucleus nucleotide binding|RNA binding 0 AATTGATTCAATTGGACCAAA 0.264 VPREB1 7441 broad.mit.edu 37 22 22599522 22599522 + Missense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr22:22599522T>A uc002zvx.1 + 2 237 c.211T>A c.(211-213)TAT>AAT p.Y71N LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 71 Complementarity-determining-2.|Ig-like V-type. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CCTGCTGAGATATTTCTCACA 0.587 C22orf23 84645 broad.mit.edu 37 22 38343297 38343297 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr22:38343297G>C uc003auj.1 - 4 431 c.340C>G c.(340-342)CAA>GAA p.Q114E C22orf23_uc003auk.1_Missense_Mutation_p.Q114E NM_032561 NP_115950 Q9BZE7 EVG1_HUMAN hypothetical protein LOC84645 114 0 Melanoma(58;0.045) CTGGTGGCTTGAGGCTTGAAC 0.637 SETD5 55209 broad.mit.edu 37 3 9512248 9512248 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:9512248C>G uc003brt.2 + 19 3265 c.2830C>G c.(2830-2832)CTG>GTG p.L944V SETD5_uc003bru.2_Missense_Mutation_p.L846V|SETD5_uc003brv.2_Missense_Mutation_p.L833V|SETD5_uc010hck.2_Missense_Mutation_p.L426V|SETD5_uc003brx.2_Missense_Mutation_p.L613V NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 944 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TCATTCTGACCTGGCTCCTCA 0.507 MTMR14 64419 broad.mit.edu 37 3 9712789 9712789 + Silent SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:9712789A>C uc003brz.2 + 6 736 c.612A>C c.(610-612)CGA>CGC p.R204R MTMR14_uc003bsa.2_Silent_p.R204R|MTMR14_uc003bsb.2_Silent_p.R204R|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 204 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) AGCTGCTTCGATACCTGTCAG 0.453 TSEN2 80746 broad.mit.edu 37 3 12538034 12538034 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:12538034C>T uc003bxc.2 + 4 676 c.289C>T c.(289-291)CCT>TCT p.P97S TSEN2_uc003bwy.2_Missense_Mutation_p.P97S|TSEN2_uc003bwz.2_Missense_Mutation_p.P97S|TSEN2_uc003bxa.2_Missense_Mutation_p.P97S|TSEN2_uc011auq.1_Missense_Mutation_p.P97S|TSEN2_uc003bxb.2_Missense_Mutation_p.P97S|TSEN2_uc011aur.1_Missense_Mutation_p.P6S NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 97 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 GACAAACATGCCTATCATCAC 0.358 TSEN2 80746 broad.mit.edu 37 3 12560614 12560614 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:12560614C>G uc003bxc.2 + 8 1404 c.1017C>G c.(1015-1017)TTC>TTG p.F339L TSEN2_uc003bwy.2_Missense_Mutation_p.F339L|TSEN2_uc003bwz.2_Missense_Mutation_p.F280L|TSEN2_uc003bxa.2_Missense_Mutation_p.F313L|TSEN2_uc011auq.1_Missense_Mutation_p.F313L|TSEN2_uc003bxb.2_Missense_Mutation_p.F339L|TSEN2_uc011aur.1_Missense_Mutation_p.F248L NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 339 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 AGCCCACGTTCAGAACCACCT 0.428 ITIH4 3700 broad.mit.edu 37 3 52863229 52863229 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:52863229C>T uc003dfz.2 - 2 193 c.157G>A c.(157-159)GTC>ATC p.V53I ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Missense_Mutation_p.V53I|ITIH4_uc011ben.1_Missense_Mutation_p.V53I NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 53 VIT. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CGGCTGGTGACGACCGTGTGG 0.557 EPHA6 285220 broad.mit.edu 37 3 97356865 97356865 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:97356865T>G uc010how.1 + 14 2766 c.2723T>G c.(2722-2724)GTT>GGT p.V908G EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.V300G|EPHA6_uc003drr.3_Missense_Mutation_p.V300G|EPHA6_uc003drt.2_Missense_Mutation_p.V300G|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 813 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GTATGCAAAGTTTCTGATTTT 0.403 ZBTB11 27107 broad.mit.edu 37 3 101383530 101383530 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:101383530T>C uc003dve.3 - 5 1882 c.1652A>G c.(1651-1653)AAA>AGA p.K551R NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTTCATCTTTTTTCCTCTTTG 0.343 MYH15 22989 broad.mit.edu 37 3 108147527 108147527 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:108147527C>A uc003dxa.1 - 28 3631 c.3574G>T c.(3574-3576)GAG>TAG p.E1192* NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1192 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 AGAGTGGCCTCTTCCATGTCT 0.498 CP 1356 broad.mit.edu 37 3 148904424 148904424 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:148904424C>T uc003ewy.3 - 11 2213 c.1960G>A c.(1960-1962)GAT>AAT p.D654N CP_uc011bnr.1_Intron|CP_uc003ewx.3_Missense_Mutation_p.D435N|CP_uc003ewz.2_Missense_Mutation_p.D654N|CP_uc010hvf.1_Missense_Mutation_p.D380N NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 654 Plastocyanin-like 4.|F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CCATGTACATCGGCCTCATTT 0.468 PLD1 5337 broad.mit.edu 37 3 171451290 171451291 + Nonsense_Mutation DNP CC CC AA TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:171451290_171451291CC>AA uc003fhs.2 - 6 665_666 c.549_550GG>TT c.(547-552)CTGGAA>CTTTAA p.E184* PLD1_uc003fht.2_Nonsense_Mutation_p.E184* NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 184 PX. 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) AAGTAATCTTCCAGTTGTTTCT 0.282 ATP13A5 344905 broad.mit.edu 37 3 193002749 193002749 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:193002749G>A uc011bsq.1 - 27 3180 c.3180C>T c.(3178-3180)TTC>TTT p.F1060F NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 1060 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TAGAAAAGATGAATGCTACTG 0.368 DOK7 285489 broad.mit.edu 37 4 3478203 3478203 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:3478203G>T uc003ghd.2 + 4 536 c.466G>T c.(466-468)GAC>TAC p.D156Y DOK7_uc003ghe.2_Silent_p.L21L NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 156 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GAAGCTGTCTGACCTCCGGCG 0.632 SEL1L3 23231 broad.mit.edu 37 4 25780794 25780794 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:25780794G>C uc003gru.3 - 16 2641 c.2489C>G c.(2488-2490)GCG>GGG p.A830G SEL1L3_uc003grv.2_Missense_Mutation_p.A237G NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 830 Sel1-like 6. integral to membrane binding 0 TCCACCTTGCGCAGCCTTATG 0.468 PPAT 5471 broad.mit.edu 37 4 57272680 57272680 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:57272680G>C uc003hbr.2 - 3 585 c.383C>G c.(382-384)GCT>GGT p.A128G NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 128 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) TAATCGAGCAGCATTTACCAA 0.378 C4orf35 85438 broad.mit.edu 37 4 71200843 71200843 + Silent SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:71200843G>T uc003hff.2 + 1 173 c.87G>T c.(85-87)GGG>GGT p.G29G NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 29 flagellum calcium ion binding 0 all_hematologic(202;0.196) TTTTCTTTGGGGCTGACAATG 0.408 PCDH10 57575 broad.mit.edu 37 4 134076151 134076151 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:134076151G>A uc003iha.2 + 3 3596 c.2770G>A c.(2770-2772)GAT>AAT p.D924N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 924 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TAGTGATCATGATGCCACCAA 0.408 CTSO 1519 broad.mit.edu 37 4 156860571 156860571 + Silent SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:156860571A>G uc003ipg.2 - 4 553 c.504T>C c.(502-504)TAT>TAC p.Y168Y NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 168 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CATTGCAGCCATAATTATTAT 0.433 FAT1 2195 broad.mit.edu 37 4 187527258 187527258 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:187527258A>G uc003izf.2 - 17 10504 c.10316T>C c.(10315-10317)GTC>GCC p.V3439A NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3439 Extracellular (Potential).|Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCTGGAGAAGACGGGCGCGTT 0.522 HNSCC(5;0.00058) PRLR 5618 broad.mit.edu 37 5 35065837 35065837 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:35065837G>A uc003jjm.2 - 10 1753 c.1223C>T c.(1222-1224)GCT>GTT p.A408V PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A307V NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 408 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGATCCACCAGCATGAAAATA 0.498 PCDHGB1 56104 broad.mit.edu 37 5 140731513 140731513 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:140731513G>A uc003ljo.1 + 1 1686 c.1686G>A c.(1684-1686)GCG>GCA p.A562A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.A562A NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 562 Extracellular (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) TGTACCCCGCGCTGGGGCCTG 0.692 CSF1R 1436 broad.mit.edu 37 5 149459897 149459897 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:149459897G>T uc003lrl.2 - 3 505 c.310C>A c.(310-312)CCT>ACT p.P104T CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P104T|CSF1R_uc011dce.1_Missense_Mutation_p.P104T|CSF1R_uc011dcf.1_Missense_Mutation_p.P104T NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 104 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGCCGGGCAGGGTCTAGAGTA 0.607 CDHR2 54825 broad.mit.edu 37 5 176016062 176016062 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:176016062G>A uc003mem.1 + 22 2953 c.2887G>A c.(2887-2889)GTC>ATC p.V963I CDHR2_uc003men.1_Missense_Mutation_p.V963I NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 963 Extracellular (Potential).|Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GAACAATGGCGTCATCCTGTT 0.587 RASGEF1C 255426 broad.mit.edu 37 5 179545650 179545650 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:179545650C>T uc003mlq.2 - 9 1339 c.1042G>A c.(1042-1044)GCG>ACG p.A348T RASGEF1C_uc003mlr.2_Missense_Mutation_p.A348T|RASGEF1C_uc003mlp.3_Missense_Mutation_p.A197T NM_175062 NP_778232 Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 348 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGTGGGCCGCCCCGCGCAGG 0.667 LPA 4018 broad.mit.edu 37 6 160963737 160963737 + Missense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr6:160963737T>A uc003qtl.2 - 35 5622 c.5502A>T c.(5500-5502)CAA>CAT p.Q1834H NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4342 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGAGACTGACTTGCCAGGGCC 0.507 SP4 6671 broad.mit.edu 37 7 21550647 21550647 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:21550647G>C uc003sva.2 + 6 2296 c.2115G>C c.(2113-2115)AAG>AAC p.K705N SP4_uc003svb.2_Missense_Mutation_p.K392N NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 705 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 TAGGTGAAAAGAGATTTGAAT 0.358 CCDC129 223075 broad.mit.edu 37 7 31682578 31682578 + Nonsense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:31682578G>T uc003tcj.1 + 11 2587 c.1594G>T c.(1594-1596)GAA>TAA p.E532* CCDC129_uc011kad.1_Nonsense_Mutation_p.E542*|CCDC129_uc003tci.1_Nonsense_Mutation_p.E383*|CCDC129_uc011kae.1_Nonsense_Mutation_p.E558*|CCDC129_uc003tck.1_Nonsense_Mutation_p.E440* NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 532 0 CACGAGGGGAGAATGCCCAAG 0.542 SEPT14 346288 broad.mit.edu 37 7 55910721 55910721 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:55910721C>T uc003tqz.2 - 5 589 c.472G>A c.(472-474)GTC>ATC p.V158I NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 158 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CACACGTGGACGCGAGAATCA 0.393 GRM3 2913 broad.mit.edu 37 7 86416131 86416131 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:86416131C>A uc003uid.2 + 3 2122 c.1023C>A c.(1021-1023)AAC>AAA p.N341K GRM3_uc010lef.2_Missense_Mutation_p.N339K|GRM3_uc010leg.2_Missense_Mutation_p.N213K|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 341 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGAGCCTCAACCCCTACAACA 0.612 CUL1 8454 broad.mit.edu 37 7 148497615 148497615 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:148497615G>C uc010lpg.2 + 22 2798 c.2272G>C c.(2272-2274)GAG>CAG p.E758Q CUL1_uc003wey.2_Missense_Mutation_p.E758Q|CUL1_uc003wez.2_Missense_Mutation_p.E648Q|CUL1_uc003wfa.2_Missense_Mutation_p.E419Q NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 758 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CATTCTAATTGAGAAAGAATA 0.408 GIMAP6 474344 broad.mit.edu 37 7 150325594 150325594 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:150325594C>G uc003whn.2 - 3 516 c.92G>C c.(91-93)AGG>ACG p.R31T GIMAP6_uc003whm.2_Intron NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 31 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTTTCTCCCTTAGACCTAG 0.532 TMEM71 137835 broad.mit.edu 37 8 133764031 133764031 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr8:133764031C>A uc003ytp.2 - 4 543 c.314G>T c.(313-315)AGG>ATG p.R105M TMEM71_uc003ytn.2_Missense_Mutation_p.S105I|TMEM71_uc003yto.2_Missense_Mutation_p.R105M NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 105 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTCTGCTTACCTAACTAAGTT 0.318 PHF20L1 51105 broad.mit.edu 37 8 133844573 133844573 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr8:133844573G>A uc003ytt.2 + 15 2163 c.1838G>A c.(1837-1839)AGC>AAC p.S613N PHF20L1_uc011lja.1_Missense_Mutation_p.S587N NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 613 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCTTCACGAAGCATGTTTACG 0.423 ZNF696 79943 broad.mit.edu 37 8 144378436 144378436 + Silent SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr8:144378436C>T uc003yxy.3 + 3 1000 c.591C>T c.(589-591)CTC>CTT p.L197L NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 197 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) TCAACCTCCTCCGGCACCAGC 0.731 LRRC14 9684 broad.mit.edu 37 8 145746159 145746159 + Silent SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr8:145746159C>G uc003zdk.1 + 3 1013 c.867C>G c.(865-867)CTC>CTG p.L289L RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Silent_p.L289L|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 289 LRR 1. 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGCGTGAGCTCAGCATGGGCT 0.632 KANK1 23189 broad.mit.edu 37 9 711323 711323 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr9:711323G>A uc003zgl.1 + 7 1206 c.557G>A c.(556-558)AGT>AAT p.S186N KANK1_uc003zgm.2_Missense_Mutation_p.S186N|KANK1_uc003zgn.1_Missense_Mutation_p.S186N|KANK1_uc003zgo.1_Missense_Mutation_p.S186N|KANK1_uc003zgp.1_Missense_Mutation_p.S186N|KANK1_uc003zgq.2_Missense_Mutation_p.S28N|KANK1_uc003zgr.1_Missense_Mutation_p.S28N|KANK1_uc003zgs.1_Missense_Mutation_p.S28N NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 186 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AGGCTGGCCAGTTTTGGAGGC 0.542 ELAVL2 1993 broad.mit.edu 37 9 23701496 23701496 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr9:23701496G>C uc003zpu.2 - 5 869 c.594C>G c.(592-594)ATC>ATG p.I198M ELAVL2_uc003zps.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpt.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpv.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpw.2_Missense_Mutation_p.I198M NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 198 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) ACTTTACAGTGATTGGCTCCG 0.488 PRUNE2 158471 broad.mit.edu 37 9 79323163 79323163 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr9:79323163C>A uc010mpk.2 - 8 4151 c.4027G>T c.(4027-4029)GAG>TAG p.E1343* NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1343 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GCGATCACCTCCTCTTCATCA 0.512 OR1L3 26735 broad.mit.edu 37 9 125438067 125438067 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr9:125438067G>A uc011lzb.1 + 1 659 c.659G>A c.(658-660)AGA>AAA p.R220K NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTTATCTAAGAATTCTCATC 0.478 LHX3 8022 broad.mit.edu 37 9 139092519 139092519 + Nonsense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr9:139092519T>A uc004cha.2 - 2 257 c.160A>T c.(160-162)AAG>TAG p.K54* LHX3_uc004cgz.2_Nonsense_Mutation_p.K59* NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 54 LIM zinc-binding 1. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TTGAGACACTTGCTGTGCCAG 0.612 RGAG4 340526 broad.mit.edu 37 X 71349892 71349892 + Missense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chrX:71349892A>T uc010nlh.1 - 1 1860 c.1499T>A c.(1498-1500)ATA>AAA p.I500K NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 500 ovary(2)|skin(1) 3 Renal(35;0.156) AGGCTGTATTATGGGAGGTGA 0.552 BTK 695 broad.mit.edu 37 X 100629566 100629566 + Silent SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chrX:100629566T>A uc004ehg.2 - 3 391 c.198A>T c.(196-198)ACA>ACT p.T66T BTK_uc010nnn.2_Silent_p.T66T|BTK_uc010nno.2_Silent_p.T100T|BTK_uc004ehi.2_Silent_p.T66T NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 66 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 CAGGAACCACTGTTTCAACAC 0.403 Agammaglobulinemia_X-linked DDX3Y 8653 broad.mit.edu 37 Y 15029365 15029365 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chrY:15029365G>T uc004fsu.1 + 17 2123 c.1814G>T c.(1813-1815)GGT>GTT p.G605V DDX3Y_uc004fsv.2_Missense_Mutation_p.G605V|DDX3Y_uc010nww.1_Missense_Mutation_p.G421V|DDX3Y_uc011nar.1_Missense_Mutation_p.G602V NM_001122665 NP_001116137 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, 605 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding 0 CAAAGTAGTGGTTCCAGCAGT 0.458 PPP1R9B 84687 broad.mit.edu 37 17 48212917 48212918 + Splice_Site DEL CC CC - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:48212917_48212918delCC uc002iqh.3 - 11 2403 c.2400_splice c.e11+1 p.K800_splice NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 CCCAGGCCCACCTTGTCCAGGA 0.639 PTEN 5728 broad.mit.edu 37 10 89717665 89717666 + Frame_Shift_Ins INS - - C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr10:89717665_89717666insC uc001kfb.2 + 8 1721_1722 c.690_691insC c.(688-693)GGACCCfs p.G230fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 230_231 C2 tensin-type. 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.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(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) CCAATTCAGGACCCACACGACG 0.426 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) PPP1R9B 84687 broad.mit.edu 37 17 48212917 48212918 + Splice_Site DEL CC CC - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:48212917_48212918delCC uc002iqh.3 - 11 2403 c.2400_splice c.e11+1 p.K800_splice NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 CCCAGGCCCACCTTGTCCAGGA 0.639 KIAA1841 84542 broad.mit.edu 37 2 61324903 61324913 + Frame_Shift_Del DEL AAGTTCATTGA AAGTTCATTGA - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr2:61324903_61324913delAAGTTCATTGA uc002saw.3 + 12 1584_1594 c.1281_1291delAAGTTCATTGA c.(1279-1293)GCAAGTTCATTGAATfs p.A427fs KIAA1841_uc002sax.3_Frame_Shift_Del_p.A281fs|KIAA1841_uc002say.2_Frame_Shift_Del_p.A427fs NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 427_431 0 Epithelial(17;0.193) CTACTGCAGCAAGTTCATTGAATACTGTTGG 0.365 NCAM2 4685 broad.mit.edu 37 21 22664463 22664463 + Frame_Shift_Del DEL T T - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr21:22664463delT uc002yld.1 + 5 770 c.521delT c.(520-522)CTCfs p.L174fs NCAM2_uc011acb.1_Frame_Shift_Del_p.L32fs|NCAM2_uc011acc.1_Frame_Shift_Del_p.L199fs NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 174 Ig-like C2-type 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CTGCAGATTCTCAACATCAAT 0.398 SLAMF8 56833 broad.mit.edu 37 1 159805026 159805026 + Frame_Shift_Del DEL C C - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:159805025_159805025AC>A uc001fue.4 + 4 1043 c.833_833AC>A c.(832-834)aacfs p.N278fs VSIG8_uc001fug.1_3'UTR NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN Homo sapiens SLAM family member 8 (SLAMF8), mRNA. 278 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GAGACAGAGAACCCCCTTGTG 0.488 ADCY10 55811 broad.mit.edu 37 1 167839517 167839540 + In_Frame_Del DEL GGTACTCAATTTTCATAAGTATCT GGTACTCAATTTTCATAAGTATCT - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr1:167839516_167839539AGGTACTCAATTTTCATAAGTATCT>A uc001ger.3 - 13 1870_1893 c.1572_1595AGATACTTATGAAAATTGAGTACCT>T c.(1570-1596)cagatacttatgaaaattgagtacctg>caTg p.524_532QILMKIEYL>H ADCY10_uc010plj.2_In_Frame_Del_p.371_379QILMKIEYL>H|ADCY10_uc009wvk.3_In_Frame_Del_p.432_440QILMKIEYL>H|ADCY10_uc009wvl.3_In_Frame_Del_p.523_531QILMKIEYL>H NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 524 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ACCTTGGGCCAGGTACTCAATTTTCATAAGTATCTGGCTTTTTC 0.371 ILDR1 286676 broad.mit.edu 37 3 121712708 121712711 + Frame_Shift_Del DEL GAGG GAGG - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr3:121712707_121712710TGAGG>T uc003ees.3 - 6 1089_1092 c.886_889CCTCA>A c.(886-891)ctcaacfs p.L296fs ILDR1_uc003eeq.3_Frame_Shift_Del_p.L264fs|ILDR1_uc003eer.3_Frame_Shift_Del_p.L252fs|ILDR1_uc010hrg.3_Frame_Shift_Del_p.L207fs NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 296 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TGGGCCAGGTTGAGGTTCCGCAGT 0.593 HTT 3064 broad.mit.edu 37 4 3190679 3190703 + Frame_Shift_Del DEL TTTCTATTACAACTGGTTGGTATTC TTTCTATTACAACTGGTTGGTATTC - rs61731805 TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr4:3190678_3190702GTTTCTATTACAACTGGTTGGTATTC>G uc021xkv.1 + 39 5371_5395 c.5226_5250GTTTCTATTACAACTGGTTGGTATTC>G c.(5224-5250)aggtttctattacaactggttggtattfs p.R1742fs NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 1742 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTCTTGGAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAG 0.347 APC 324 broad.mit.edu 37 5 112175647 112175648 + Frame_Shift_Ins INS - - GG TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:112175646_112175647T>TGG uc003kpz.4 + 16 4548_4549 c.4355_4356T>TGG c.(4354-4356)gtafs p.V1452fs APC_uc011cvt.2_Frame_Shift_Ins_p.V1434fs|APC_uc003kpy.4_Frame_Shift_Ins_p.V1452fs|APC_uc010jbz.3_Frame_Shift_Ins_p.V1169fs|APC_uc010jca.3_Frame_Shift_Ins_p.V752fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1452 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1451*(4)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.E1451fs*23(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAGCGAGAAGTACCTAAAAATA 0.490 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) APC 324 broad.mit.edu 37 5 112175683 112175683 + Frame_Shift_Del DEL G G - rs112961968 TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr5:112175682_112175682AG>A uc003kpz.4 + 16 4584 c.4391_4391AG>A c.(4390-4392)gagfs p.E1464fs APC_uc011cvt.2_Frame_Shift_Del_p.E1446fs|APC_uc003kpy.4_Frame_Shift_Del_p.E1464fs|APC_uc010jbz.3_Frame_Shift_Del_p.E1181fs|APC_uc010jca.3_Frame_Shift_Del_p.E764fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1464 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1464fs*8(66)|p.E1464*(5)|p.R1463fs*6(1)|p.?(1)|p.K1454fs*3(1)|p.E1464K(1)|p.K1192fs*3(1)|p.S1465fs*4(1)|p.S1465fs*3(1)|p.R1463fs*10(1)|p.R1463S(1)|p.E1464D(1)|p.R1463*(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAAAGAGAGAGAGTGGACCT 0.453 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) NUPL2 11097 broad.mit.edu 37 7 23226692 23226692 + Frame_Shift_Del DEL G G - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr7:23226691_23226691TG>T uc003svu.3 + 2 630 c.371_371TG>T c.(370-372)atgfs p.M124fs NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript NM_007342 NP_031368 O15504 NUPL2_HUMAN Homo sapiens nucleoporin like 2 (NUPL2), mRNA. 124 Interaction with HIV-1 Vpr. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GTAAAAGATATGGAGGTTTGG 0.313 PTEN 5728 broad.mit.edu 37 10 89717666 89717667 + Frame_Shift_Ins INS - - C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr10:89717665_89717666A>AC uc001kfb.3 + 6 1722_1723 c.690_691A>AC c.(688-693)ggacccfs p.G230fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 230 C2 tensin-type. T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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 PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.P231fs*12(2)|p.G230fs*26(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 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) CCAATTCAGGACCCACACGACG 0.426 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MUC6 4588 broad.mit.edu 37 11 1016973 1016974 + Frame_Shift_Del DEL GT GT - rs71472140 TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr11:1016972_1016973GGT>G uc001lsw.2 - 30 5879_5880 c.5828_5829ACC>C c.(5827-5829)accfs p.T1943fs NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 1943 Approximate repeats.|Thr-rich. NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866). maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCCTGTACTGGTGTGTTTGGG 0.574 NF1 4763 broad.mit.edu 37 17 29509580 29509580 + Frame_Shift_Del DEL G G - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:29509579_29509579CG>C uc002hgg.3 + 7 1167 c.784_784CG>C c.(784-786)cgtfs p.R262fs NF1_uc002hge.2_Frame_Shift_Del_p.R262fs|NF1_uc002hgf.2_Frame_Shift_Del_p.R262fs|NF1_uc002hgh.3_Frame_Shift_Del_p.R262fs|NF1_uc010csn.2_Frame_Shift_Del_p.R122fs NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 262 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAGCACCAAACGTAAAGCAGC 0.353 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653