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 ARID1A 8289 broad.mit.edu 37 1 27107180 27107180 + Nonsense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:27107180C>A uc001bmv.1 + 20 7164 c.6791C>A c.(6790-6792)TCA>TAA p.S2264* ARID1A_uc001bmu.1_Nonsense_Mutation_p.S2047*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S1110*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.S592*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.S506* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2264 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.S2264*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATCTCGGTATCACCGTTGATG 0.547 Mis|N|F|S|D clear cell ovarian carcinoma|RCC LRRC7 57554 broad.mit.edu 37 1 70493942 70493942 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:70493942C>T uc001dep.2 + 16 1799 c.1769C>T c.(1768-1770)CCA>CTA p.P590L LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 590 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GTGGGTAAGCCAAGCCATGGA 0.403 LRRC7 57554 broad.mit.edu 37 1 70504683 70504683 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:70504683C>A uc001dep.2 + 19 3092 c.3062C>A c.(3061-3063)GCT>GAT p.A1021D LRRC7_uc009wbg.2_Missense_Mutation_p.A305D|LRRC7_uc001deq.2_Missense_Mutation_p.A262D NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1021 centrosome|focal adhesion|nucleolus protein binding p.A1021S(1) ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CAACAAAAAGCTTCTATGACA 0.453 TCHH 7062 broad.mit.edu 37 1 152084711 152084711 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:152084711G>A uc001ezp.2 - 2 982 c.982C>T c.(982-984)CGC>TGC p.R328C TCHH_uc009wne.1_Missense_Mutation_p.R328C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 328 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-2; approximate. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tgctgctcgcgcctctcctgc 0 FLG2 388698 broad.mit.edu 37 1 152327388 152327388 + Silent SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:152327388G>T uc001ezw.3 - 3 2947 c.2874C>A c.(2872-2874)TCC>TCA p.S958S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 958 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAAAGCCAGAGGATTGACCTG 0.502 TDRD10 126668 broad.mit.edu 37 1 154516513 154516513 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:154516513G>T uc009wow.2 + 9 1416 c.578G>T c.(577-579)CGT>CTT p.R193L TDRD10_uc001ffd.2_Missense_Mutation_p.R193L|TDRD10_uc001ffe.2_Missense_Mutation_p.R114L NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 193 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CATAGCGTCCGTGGGGAGGCG 0.617 NOS1AP 9722 broad.mit.edu 37 1 162325084 162325084 + Nonsense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:162325084C>T uc001gbv.2 + 7 1090 c.703C>T c.(703-705)CGA>TGA p.R235* NOS1AP_uc010pkr.1_Nonsense_Mutation_p.R230*|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Nonsense_Mutation_p.R230* NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 235 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GGAATTCAGCCGAGGTGTGAC 0.577 NFASC 23114 broad.mit.edu 37 1 204951064 204951064 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:204951064C>T uc001hbj.2 + 21 2714 c.2386C>T c.(2386-2388)CCC>TCC p.P796S NFASC_uc010pra.1_Missense_Mutation_p.P792S|NFASC_uc001hbi.2_Missense_Mutation_p.P792S|NFASC_uc010prb.1_Missense_Mutation_p.P807S|NFASC_uc010prc.1_Missense_Mutation_p.P363S|NFASC_uc001hbk.1_Missense_Mutation_p.P602S|NFASC_uc001hbl.1_Missense_Mutation_p.P46S NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 796 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGTCTACGTGCCCTATGAGAT 0.577 KCNH1 3756 broad.mit.edu 37 1 211192417 211192417 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:211192417T>C uc001hib.2 - 6 910 c.740A>G c.(739-741)AAT>AGT p.N247S KCNH1_uc001hic.2_Missense_Mutation_p.N247S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 247 Extracellular (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCAGGCCACATTATTCTGCCT 0.443 DISP1 84976 broad.mit.edu 37 1 223179252 223179252 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:223179252G>A uc001hnu.1 + 8 4660 c.4513G>A c.(4513-4515)GTG>ATG p.V1505M NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1505 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GGAAGCCAATGTGCCTGCTGT 0.388 CHML 1122 broad.mit.edu 37 1 241798733 241798733 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:241798733G>A uc001hzd.2 - 1 500 c.336C>T c.(334-336)AAC>AAT p.N112N OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 112 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCTCTTCAACGTTGTCCTCCA 0.428 NCOA4 8031 broad.mit.edu 37 10 51579230 51579230 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr10:51579230C>T uc001jis.3 + 2 292 c.89C>T c.(88-90)GCT>GTT p.A30V PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.A46V|NCOA4_uc010qhd.1_Missense_Mutation_p.A46V|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Missense_Mutation_p.A30V|NCOA4_uc009xoo.2_Missense_Mutation_p.A30V NM_001145263 NP_001138735 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 isoform 3 30 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity central_nervous_system(1)|kidney(1) 2 TTGGAGCTTGCTATTGGTGGA 0.488 T RET papillary thyroid CCAR1 55749 broad.mit.edu 37 10 70509365 70509365 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr10:70509365G>A uc001joo.2 + 10 1160 c.1041G>A c.(1039-1041)GAG>GAA p.E347E CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.E152E|CCAR1_uc009xpx.1_Silent_p.E321E|CCAR1_uc001jon.1_Silent_p.E293E|CCAR1_uc010qiz.1_Silent_p.E332E|CCAR1_uc010qja.1_Silent_p.E332E|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 347 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 CACGAAGAGAGCGAGAGCGAT 0.453 NODAL 4838 broad.mit.edu 37 10 72192776 72192776 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr10:72192776C>T uc001jrc.2 - 3 1002 c.960G>A c.(958-960)CCG>CCA p.P320P NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 320 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 GCATGCTCAGCGGCTTGGTCT 0.512 PTEN 5728 broad.mit.edu 37 10 89624298 89624298 + Missense_Mutation SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr10:89624298C>G uc001kfb.2 + 2 1103 c.72C>G c.(70-72)GAC>GAG p.D24E KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 24 Phosphatase 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.?(13)|p.0?(12)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.D24fs*19(2)|p.D24Y(2)|p.D24fs*20(2)|p.D24_L25del(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) TCGACTTAGACTTGACCTGTA 0.463 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) TDRD1 56165 broad.mit.edu 37 10 115966034 115966034 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr10:115966034G>A uc001lbg.1 + 11 1482 c.1329G>A c.(1327-1329)ATG>ATA p.M443I TDRD1_uc001lbf.2_Missense_Mutation_p.M434I|TDRD1_uc001lbh.1_Missense_Mutation_p.M434I|TDRD1_uc001lbi.1_Missense_Mutation_p.M434I|TDRD1_uc010qsc.1_Missense_Mutation_p.M104I|TDRD1_uc001lbj.2_Missense_Mutation_p.M152I NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 443 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TTATAGAAATGGGATATGGCT 0.343 TCERG1L 256536 broad.mit.edu 37 10 132944801 132944801 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr10:132944801G>A uc001lkp.2 - 7 1243 c.1157C>T c.(1156-1158)CCG>CTG p.P386L TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 386 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TTTGTGGGGCGGGTCCTCAAT 0.502 TSSC4 10078 broad.mit.edu 37 11 2424472 2424472 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:2424472G>A uc001lwj.2 + 4 970 c.609G>A c.(607-609)CAG>CAA p.Q203Q TSSC4_uc001lwi.2_Silent_p.Q139Q|TSSC4_uc001lwk.2_Silent_p.Q203Q|TSSC4_uc001lwl.2_Silent_p.Q203Q NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 203 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;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTTCAACCAGGATCCCTCCA 0.647 OR56B1 387748 broad.mit.edu 37 11 5758141 5758141 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:5758141A>T uc001mbt.1 + 1 395 c.395A>T c.(394-396)TAT>TTT p.Y132F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.Y132F|OR56B1_uc009yev.1_Missense_Mutation_p.Y132F NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TTTGATAGATATGTGGCTATT 0.428 FIBIN 387758 broad.mit.edu 37 11 27016359 27016359 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:27016359C>T uc001mrd.2 + 1 732 c.286C>T c.(286-288)CGC>TGC p.R96C NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 96 extracellular region|Golgi apparatus 0 GGATGCTGGGCGCGTGCTGGA 0.667 ACP2 53 broad.mit.edu 37 11 47264443 47264443 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:47264443G>A uc001nei.2 - 10 1086 c.969C>T c.(967-969)TTC>TTT p.F323F ACP2_uc010rhe.1_Silent_p.F295F|ACP2_uc009ylj.2_Silent_p.F251F|ACP2_uc010rhf.1_Silent_p.F291F|ACP2_uc010rhg.1_Silent_p.F260F|ACP2_uc010rhh.1_Silent_p.F136F|ACP2_uc010rhi.1_Silent_p.F136F|ACP2_uc009ylk.2_Silent_p.F290F NM_001610 NP_001601 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal isoform 1 323 Lumenal (Potential). integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity ovary(1) 1 TCTCCACTGAGAAATTCCTGA 0.657 OR8J3 81168 broad.mit.edu 37 11 55904988 55904988 + Silent SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:55904988G>T uc010riz.1 - 1 207 c.207C>A c.(205-207)ATC>ATA p.I69I NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TGCCAAGATTGATGATAGCTA 0.448 OR5A1 219982 broad.mit.edu 37 11 59211548 59211548 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:59211548G>T uc001nnx.1 + 1 907 c.907G>T c.(907-909)GCC>TCC p.A303S NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 GATCAAGGATGCCCTGTGGAA 0.428 TAF6L 10629 broad.mit.edu 37 11 62554020 62554020 + Missense_Mutation SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:62554020C>G uc001nvc.2 + 11 1222 c.1121C>G c.(1120-1122)GCC>GGC p.A374G TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 374 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 AAGATGAAGGCCCAGGCAGCA 0.577 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NRXN2 9379 broad.mit.edu 37 11 64434944 64434944 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:64434944G>A uc001oar.2 - 10 2015 c.1576C>T c.(1576-1578)CCC>TCC p.P526S NRXN2_uc001oas.2_Missense_Mutation_p.P495S|NRXN2_uc001oaq.2_Missense_Mutation_p.P193S NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 AGCCCATTGGGCTCGGTGGTG 0.657 RELA 5970 broad.mit.edu 37 11 65425949 65425949 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:65425949G>A uc001ofg.2 - 8 826 c.686C>T c.(685-687)ACG>ATG p.T229M RELA_uc001ofh.2_Missense_Mutation_p.T226M|RELA_uc010ron.1_Missense_Mutation_p.T240M|RELA_uc009yqr.2_Missense_Mutation_p.T176M|RELA_uc001ofe.2_Missense_Mutation_p.T229M|RELA_uc001off.2_Missense_Mutation_p.T229M|RELA_uc009yqs.1_Intron NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 229 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 GCCTGGTCCCGTGAAATACAC 0.587 ARHGEF17 9828 broad.mit.edu 37 11 73022573 73022573 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:73022573G>A uc001otu.2 + 1 2911 c.2890G>A c.(2890-2892)GCC>ACC p.A964T NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 964 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CAGTGTGCCCGCCACATTTAT 0.627 SYTL2 54843 broad.mit.edu 37 11 85407418 85407418 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:85407418C>A uc010rth.1 - 17 2743 c.2467G>T c.(2467-2469)GAT>TAT p.D823Y SYTL2_uc010rtg.1_Missense_Mutation_p.D824Y|SYTL2_uc010rti.1_Missense_Mutation_p.D799Y|SYTL2_uc010rtj.1_Missense_Mutation_p.D791Y|SYTL2_uc001pav.2_Missense_Mutation_p.D265Y|SYTL2_uc010rte.1_Missense_Mutation_p.D225Y|SYTL2_uc001pax.2_Missense_Mutation_p.D265Y|SYTL2_uc001paz.2_Missense_Mutation_p.D144Y|SYTL2_uc001pba.2_Missense_Mutation_p.D208Y|SYTL2_uc001pay.2_Missense_Mutation_p.D254Y|SYTL2_uc001paw.2_Missense_Mutation_p.D225Y|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.D1121Y|SYTL2_uc001pbb.2_Missense_Mutation_p.D1161Y|SYTL2_uc001pbc.2_Missense_Mutation_p.D1145Y|SYTL2_uc010rtf.1_Missense_Mutation_p.D641Y NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 823 C2 2. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTACTTGTATCTGGAAGGATG 0.408 FAT3 120114 broad.mit.edu 37 11 92534929 92534929 + Missense_Mutation SNP T T A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:92534929T>A uc001pdj.3 + 9 8767 c.8750T>A c.(8749-8751)ATA>AAA p.I2917K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2917 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGACAGATATAAATGACAAT 0.567 TCGA Ovarian(4;0.039) CARD16 114769 broad.mit.edu 37 11 104915338 104915338 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr11:104915338C>T uc001pip.1 - 2 82 c.55G>A c.(55-57)GAA>AAA p.E19K CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.E19K NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 19 CARD. regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 ATTGTACCTTCACCCATGGAA 0.408 CCND2 894 broad.mit.edu 37 12 4409052 4409052 + Missense_Mutation SNP G G T rs149961693 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:4409052G>T uc001qmo.2 + 5 1052 c.747G>T c.(745-747)CAG>CAT p.Q249H NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 249 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) GCCAGGAGCAGATTGAGGCGG 0.527 T IGL@ NHL,CLL USP5 8078 broad.mit.edu 37 12 6973267 6973267 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:6973267G>A uc001qri.3 + 17 2211 c.2152G>A c.(2152-2154)GCA>ACA p.A718T USP5_uc001qrh.3_Missense_Mutation_p.A695T NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 718 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 CTCCACAAGCGCAGCAGCCGA 0.627 ABCC9 10060 broad.mit.edu 37 12 22069960 22069960 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:22069960T>G uc001rfi.1 - 4 504 c.484A>C c.(484-486)ATA>CTA p.I162L ABCC9_uc001rfh.2_Missense_Mutation_p.I162L|ABCC9_uc001rfj.1_Missense_Mutation_p.I162L NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 162 Extracellular (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGGTTTGATATGTCCAAGCCA 0.413 LRRK2 120892 broad.mit.edu 37 12 40626149 40626149 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:40626149A>T uc001rmg.3 + 3 432 c.311A>T c.(310-312)GAT>GTT p.D104V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 104 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGACCCCAGGATGTTGGAAAT 0.388 MLL2 8085 broad.mit.edu 37 12 49425038 49425038 + Nonsense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:49425038G>A uc001rta.3 - 39 13450 c.13450C>T c.(13450-13452)CGA>TGA p.R4484* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4484 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ATCTCAGCTCGCAGCCCCTCG 0.597 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) DNAJC14 85406 broad.mit.edu 37 12 56222006 56222006 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:56222006C>A uc001shx.1 - 2 641 c.437G>T c.(436-438)GGA>GTA p.G146V DNAJC14_uc001shu.1_Missense_Mutation_p.G146V|DNAJC14_uc009zob.1_Missense_Mutation_p.G146V|DNAJC14_uc001shy.1_Missense_Mutation_p.G146V NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 146 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 AGAACCATTTCCTCCCTCAGA 0.473 ERBB3 2065 broad.mit.edu 37 12 56482393 56482393 + Missense_Mutation SNP A A C rs137870123 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:56482393A>C uc001sjh.2 + 8 1134 c.941A>C c.(940-942)AAA>ACA p.K314T ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.K255T|ERBB3_uc001sji.2_Missense_Mutation_p.K5T NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 314 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GAAGTAGATAAAAATGGGCTC 0.483 LRP1 4035 broad.mit.edu 37 12 57605026 57605026 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:57605026C>T uc001snd.2 + 84 13450 c.12984C>T c.(12982-12984)TGC>TGT p.C4328C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4328 Extracellular (Potential).|EGF-like 20. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCGACAATGCCGCTGCACTG 0.582 PPFIA2 8499 broad.mit.edu 37 12 81732996 81732996 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:81732996C>T uc001szo.1 - 21 2672 c.2511G>A c.(2509-2511)TTG>TTA p.L837L PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 763 ovary(3)|lung(2)|pancreas(1) 6 TTTTACCAAACAAACGTCCTA 0.453 TCP11L2 255394 broad.mit.edu 37 12 106729908 106729908 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:106729908G>A uc001tln.2 + 8 1233 c.1059G>A c.(1057-1059)GTG>GTA p.V353V NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 353 ovary(3) 3 ACAACATGGTGGGTGCTATTA 0.418 TBX5 6910 broad.mit.edu 37 12 114793594 114793594 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr12:114793594G>A uc001tvo.2 - 9 1795 c.1300C>T c.(1300-1302)CCC>TCC p.P434S TBX5_uc001tvp.2_Missense_Mutation_p.P434S|TBX5_uc001tvq.2_Missense_Mutation_p.P384S NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 434 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GGGACCAGGGGCCCCGAGGTG 0.652 SLITRK6 84189 broad.mit.edu 37 13 86370491 86370491 + Missense_Mutation SNP T T A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr13:86370491T>A uc001vll.1 - 2 612 c.153A>T c.(151-153)AAA>AAT p.K51N SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 51 LRRNT 1.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCTTGATACCTTTTGCTTCAC 0.398 SLITRK5 26050 broad.mit.edu 37 13 88328927 88328927 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr13:88328927C>T uc001vln.2 + 2 1503 c.1284C>T c.(1282-1284)GAC>GAT p.D428D SLITRK5_uc010tic.1_Silent_p.D187D NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 428 LRR 7.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCAGGACAGACTTCCTGGAGG 0.577 LIG4 3981 broad.mit.edu 37 13 108861005 108861005 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr13:108861005C>T uc001vqn.2 - 2 2885 c.2612G>A c.(2611-2613)CGT>CAT p.R871H LIG4_uc001vqo.2_Missense_Mutation_p.R871H|LIG4_uc010agg.1_Missense_Mutation_p.R804H|LIG4_uc010agf.2_Missense_Mutation_p.R871H|LIG4_uc001vqp.2_Missense_Mutation_p.R871H NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 871 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATCTGCAACACGACTATGATC 0.343 NHEJ DCAF11 80344 broad.mit.edu 37 14 24587663 24587663 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr14:24587663G>A uc001wlv.2 + 7 924 c.644G>A c.(643-645)CGC>CAC p.R215H DCAF11_uc001wlw.2_Missense_Mutation_p.R215H|DCAF11_uc001wlz.2_Missense_Mutation_p.R115H|DCAF11_uc001wly.2_Missense_Mutation_p.R171H|DCAF11_uc001wme.2_Missense_Mutation_p.R175H|DCAF11_uc010tny.1_Missense_Mutation_p.R82H|DCAF11_uc001wmd.2_Missense_Mutation_p.R215H|DCAF11_uc001wmc.2_Missense_Mutation_p.R115H|DCAF11_uc001wmb.3_Missense_Mutation_p.R189H|DCAF11_uc001wma.3_Missense_Mutation_p.R215H NM_001163484 NP_001156956 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 isoform 1 215 CUL4 RING ubiquitin ligase complex protein binding 0 ATCAAGGCCCGCGACGTAGGC 0.512 TRIM9 114088 broad.mit.edu 37 14 51561035 51561035 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr14:51561035C>T uc001wyx.3 - 1 1388 c.623G>A c.(622-624)CGC>CAC p.R208H TRIM9_uc001wyy.2_Missense_Mutation_p.R208H|TRIM9_uc001wyz.3_Missense_Mutation_p.R208H NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 208 B box-type 1. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GGGCACCAGGCGGTGCTTGGC 0.677 NID2 22795 broad.mit.edu 37 14 52535485 52535485 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr14:52535485G>A uc001wzo.2 - 1 462 c.228C>T c.(226-228)TAC>TAT p.Y76Y NID2_uc010tqs.1_Silent_p.Y76Y|NID2_uc010tqt.1_Silent_p.Y76Y|NID2_uc001wzp.2_Silent_p.Y76Y NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 76 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CTGAACTTACGTAGAGGTTGC 0.617 ABCD4 5826 broad.mit.edu 37 14 74764652 74764652 + Missense_Mutation SNP G G A rs145141432 byFrequency TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr14:74764652G>A uc001xpr.2 - 4 558 c.406C>T c.(406-408)CGG>TGG p.R136W ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Missense_Mutation_p.R49W|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_RNA NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 136 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) ATGTCATCCCGCAGCACGTTG 0.587 GPR132 29933 broad.mit.edu 37 14 105517676 105517676 + Silent SNP G G A rs45441203 byFrequency TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr14:105517676G>A uc001yqd.2 - 4 1697 c.798C>T c.(796-798)GCC>GCT p.A266A GPR132_uc001yqc.2_Silent_p.A78A|GPR132_uc001yqe.2_Silent_p.A257A NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 266 Helical; Name=6; (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) AAAAGGCAGCGGCTTTGACGA 0.587 GABRG3 2567 broad.mit.edu 37 15 27271924 27271924 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr15:27271924G>A uc001zbg.1 + 3 392 c.226G>A c.(226-228)GAC>AAC p.D76N GABRG3_uc001zbf.2_Missense_Mutation_p.D76N NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 76 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AATTGACGTTGACATTTATGT 0.393 APBA2 321 broad.mit.edu 37 15 29346438 29346438 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr15:29346438C>T uc001zck.2 + 3 558 c.351C>T c.(349-351)AAC>AAT p.N117N APBA2_uc010azj.2_Silent_p.N117N|APBA2_uc010uat.1_Silent_p.N117N|APBA2_uc001zcl.2_Silent_p.N117N|APBA2_uc010uas.1_Silent_p.N117N NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 117 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGGACTGCAACGGGGAGGAGT 0.647 INO80 54617 broad.mit.edu 37 15 41275164 41275164 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr15:41275164C>T uc001zni.2 - 35 4562 c.4349G>A c.(4348-4350)CGA>CAA p.R1450Q INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1450 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 CGTGGACTTTCGGCTCCGGCC 0.642 RAB27A 5873 broad.mit.edu 37 15 55516100 55516100 + Missense_Mutation SNP C C T rs104894499 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr15:55516100C>T uc002aco.2 - 6 687 c.454G>A c.(454-456)GCA>ACA p.A152T RAB27A_uc002acr.2_Missense_Mutation_p.A152T|RAB27A_uc002acp.2_Missense_Mutation_p.A152T|RAB27A_uc002acq.2_Missense_Mutation_p.A152T NM_183234 NP_899057 P51159 RB27A_HUMAN Ras-related protein Rab-27A 152 A -> P (in GS2; may affect GTP binding; interferes with melanosome transport). small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity ovary(1) 1 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) TATTTCTCTGCGAGTGCTATG 0.393 MEFV 4210 broad.mit.edu 37 16 3293377 3293377 + Missense_Mutation SNP C C T rs104895096 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr16:3293377C>T uc002cun.1 - 10 2150 c.2110G>A c.(2110-2112)GTT>ATT p.V704I NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 704 B30.2/SPRY. V -> I (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GTCGGGGGAACGCTGGACGCC 0.517 MPV17L 255027 broad.mit.edu 37 16 15501819 15501819 + Silent SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr16:15501819A>G uc002ddn.2 + 4 585 c.441A>G c.(439-441)CAA>CAG p.Q147Q MPV17L_uc002ddm.2_Missense_Mutation_p.M124V NM_001128423 NP_001121895 Q2QL34 MP17L_HUMAN MPV17 mitochondrial membrane protein-like 147 Lumenal. integral to membrane|peroxisomal membrane 0 TTCCTGTTCAATGGAGAACAG 0.498 SCNN1G 6340 broad.mit.edu 37 16 23221166 23221166 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr16:23221166C>T uc002dlm.1 + 7 1312 c.1173C>T c.(1171-1173)CTC>CTT p.L391L NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 391 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CCTACTCGCTCCAGGTAACAG 0.567 IRX5 10265 broad.mit.edu 37 16 54966567 54966567 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr16:54966567G>A uc002ehv.2 + 2 407 c.407G>A c.(406-408)CGC>CAC p.R136H IRX5_uc010cca.1_Missense_Mutation_p.R188H|IRX5_uc002ehw.2_Missense_Mutation_p.R70H NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 136 Homeobox; TALE-type. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 AACGAGCACCGCAAGAACCCC 0.652 CHST5 23563 broad.mit.edu 37 16 75563598 75563598 + Missense_Mutation SNP C C T rs147923696 byFrequency TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr16:75563598C>T uc002fei.2 - 3 2080 c.685G>A c.(685-687)GTG>ATG p.V229M CHST5_uc002fej.1_Missense_Mutation_p.V235M NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 229 Lumenal (Potential).|PAPS (By similarity). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GAGCGCAGCACGGCCCGCGGG 0.706 DNAH9 1770 broad.mit.edu 37 17 11583146 11583146 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr17:11583146C>A uc002gne.2 + 18 3494 c.3426C>A c.(3424-3426)TTC>TTA p.F1142L DNAH9_uc010coo.2_Missense_Mutation_p.F436L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1142 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAGGAGATTTCCAAGGCTTGG 0.423 GIT1 28964 broad.mit.edu 37 17 27903635 27903635 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr17:27903635G>A uc002hef.2 - 13 1499 c.1285C>T c.(1285-1287)CTG>TTG p.L429L GIT1_uc002heg.2_Silent_p.L438L|GIT1_uc010wbg.1_Silent_p.L438L|GIT1_uc010csb.1_Silent_p.L429L NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 429 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GCCTTCTTCAGCTCCAGGTAC 0.612 STAT3 6774 broad.mit.edu 37 17 40474481 40474481 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr17:40474481G>A uc002hzl.1 - 21 2160 c.1920C>T c.(1918-1920)TAC>TAT p.Y640Y STAT3_uc002hzk.1_Silent_p.Y640Y|STAT3_uc002hzm.1_Silent_p.Y640Y|STAT3_uc010wgh.1_Silent_p.Y542Y|STAT3_uc002hzn.1_Silent_p.Y640Y NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 640 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GCTGCTTTGTGTATGGTTCCA 0.463 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome ABCC3 8714 broad.mit.edu 37 17 48753410 48753410 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr17:48753410C>T uc002isl.2 + 22 3106 c.3026C>T c.(3025-3027)TCC>TTC p.S1009F ABCC3_uc002isn.2_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1009 ABC transmembrane type-1 2.|Extracellular (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AACAACACTTCCCTGAGGCTG 0.547 CCDC46 201134 broad.mit.edu 37 17 64092380 64092380 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr17:64092380G>A uc002jfl.2 - 8 976 c.757C>T c.(757-759)CGT>TGT p.R253C CCDC46_uc002jfm.2_Missense_Mutation_p.R253C|CCDC46_uc010dep.2_Intron NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 253 centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TCTTTCTCACGTATTCGAGAG 0.318 AATK 9625 broad.mit.edu 37 17 79094804 79094804 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr17:79094804G>A uc010dia.2 - 11 3012 c.2932C>T c.(2932-2934)CGG>TGG p.R978W AATK_uc010dhz.2_Intron NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 978 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GTGGAGAGCCGTGTCTCGGGC 0.652 NFATC1 4772 broad.mit.edu 37 18 77170747 77170747 + Missense_Mutation SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr18:77170747A>C uc010xfg.1 + 2 925 c.472A>C c.(472-474)AGT>CGT p.S158R NFATC1_uc002lnc.1_Missense_Mutation_p.S158R|NFATC1_uc010xff.1_Missense_Mutation_p.S158R|NFATC1_uc002lnd.2_Missense_Mutation_p.S158R|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.S158R|NFATC1_uc010xfi.1_Missense_Mutation_p.S145R|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.S145R|NFATC1_uc002lng.2_Missense_Mutation_p.S145R|NFATC1_uc010xfk.1_Missense_Mutation_p.S145R NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 158 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GGCCACGCTGAGTCTGCCCAG 0.627 DUS3L 56931 broad.mit.edu 37 19 5789320 5789320 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:5789320G>A uc002mdc.2 - 3 895 c.798C>T c.(796-798)CCC>CCT p.P266P DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 266 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 CCGGCCCTGCGGGGACCTGCT 0.731 OR7A10 390892 broad.mit.edu 37 19 14952325 14952325 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:14952325C>T uc002mzx.1 - 1 365 c.365G>A c.(364-366)CGG>CAG p.R122Q NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) GGCCACAAACCGGTCATAGGC 0.473 JAK3 3718 broad.mit.edu 37 19 17951085 17951085 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:17951085C>T uc002nhn.3 - 9 1308 c.1208G>A c.(1207-1209)CGC>CAC p.R403H JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R403H|JAK3_uc010xpx.1_Missense_Mutation_p.R403H NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 403 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CTGGGGGCTGCGGCGGAGAAC 0.478 2 Mis acute megakaryocytic leukemia| MLL4 9757 broad.mit.edu 37 19 36210704 36210704 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:36210704G>A uc010eei.2 + 3 455 c.455G>A c.(454-456)CGG>CAG p.R152Q NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 152 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCCGAGGTCGGGGTCGCAAG 0.547 ZFP30 22835 broad.mit.edu 37 19 38126845 38126845 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:38126845G>A uc002ogv.1 - 6 1113 c.597C>T c.(595-597)GCC>GCT p.A199A ZFP30_uc002ogw.1_Silent_p.A199A|ZFP30_uc002ogx.1_Silent_p.A199A|ZFP30_uc010xtt.1_Silent_p.A198A NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 199 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GACTGAGGTGGGCACACTGTC 0.388 RRAS 6237 broad.mit.edu 37 19 50140101 50140101 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:50140101G>A uc002pop.1 - 3 369 c.324C>T c.(322-324)TTC>TTT p.F108F NM_006270 NP_006261 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 108 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) CGTTAATGGCGAACACCAGCA 0.647 SLC30A3 7781 broad.mit.edu 37 2 27481713 27481713 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:27481713G>A uc002rjk.2 - 2 371 c.185C>T c.(184-186)CCG>CTG p.P62L SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.P57L NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 62 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGGCCCGGCGGCGGAAGGGG 0.617 FSHR 2492 broad.mit.edu 37 2 49195873 49195873 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:49195873C>T uc002rww.2 - 9 892 c.818G>A c.(817-819)AGC>AAC p.S273N FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.S247N NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 273 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACAGCAATGGCTGGGATAGGT 0.483 Gonadal_Dysgenesis_46_XX ANAPC1 64682 broad.mit.edu 37 2 112566679 112566679 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:112566679C>T uc002thi.2 - 29 3924 c.3677G>A c.(3676-3678)CGG>CAG p.R1226Q NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1226 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GCTAAGAAGCCGAGTAATAGA 0.463 FBLN7 129804 broad.mit.edu 37 2 112940369 112940369 + Silent SNP C C T rs147423265 byFrequency TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:112940369C>T uc002tho.1 + 6 943 c.672C>T c.(670-672)GAC>GAT p.D224D FBLN7_uc002thn.2_Silent_p.D224D|FBLN7_uc010fki.1_Silent_p.D178D|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 224 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 TGTCTGCAGACGTGAACGAGT 0.607 WDSUB1 151525 broad.mit.edu 37 2 160128292 160128292 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:160128292A>G uc002uaj.3 - 5 840 c.691T>C c.(691-693)TAT>CAT p.Y231H WDSUB1_uc002uak.3_Missense_Mutation_p.Y231H|WDSUB1_uc002ual.3_Missense_Mutation_p.Y231H|WDSUB1_uc002uam.3_Missense_Mutation_p.Y231H|WDSUB1_uc010foo.2_Intron NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain 231 ubiquitin ligase complex ubiquitin-protein ligase activity 0 GTACTTTTATATTTTAATTCA 0.363 ZDBF2 57683 broad.mit.edu 37 2 207170039 207170039 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:207170039C>T uc002vbp.2 + 5 1037 c.787C>T c.(787-789)CGC>TGC p.R263C NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 263 nucleic acid binding|zinc ion binding ovary(3) 3 GAAATCTTTACGCATGAATTC 0.388 ADAM23 8745 broad.mit.edu 37 2 207413054 207413054 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr2:207413054G>A uc002vbq.2 + 8 1066 c.843G>A c.(841-843)TTG>TTA p.L281L ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 281 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TACAGTGGTTGAAAAGAAGGA 0.413 CHGB 1114 broad.mit.edu 37 20 5903072 5903072 + Missense_Mutation SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr20:5903072A>C uc002wmg.2 + 4 588 c.282A>C c.(280-282)GAA>GAC p.E94D CHGB_uc010zqz.1_Intron NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 94 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 ATGCCTCGGAAGCCCACGAGT 0.507 MCM8 84515 broad.mit.edu 37 20 5948582 5948582 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr20:5948582G>A uc002wmi.2 + 10 1511 c.1134G>A c.(1132-1134)AAG>AAA p.K378K MCM8_uc002wmj.2_Silent_p.K362K|MCM8_uc002wmk.2_Silent_p.K378K|MCM8_uc002wml.2_Silent_p.K378K|MCM8_uc010gbp.2_Silent_p.K378K|MCM8_uc002wmm.2_5'Flank NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 378 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 ATGGGTGTAAGCATGGAATGT 0.348 FLRT3 23767 broad.mit.edu 37 20 14306206 14306206 + Silent SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr20:14306206T>G uc002wov.1 - 3 2414 c.1947A>C c.(1945-1947)TCA>TCC p.S649S MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.S649S NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 649 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TTCAGCATCATGAGTGTGAGT 0.423 LBP 3929 broad.mit.edu 37 20 36999964 36999964 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr20:36999964A>G uc002xic.1 + 12 1293 c.1258A>G c.(1258-1260)AAT>GAT p.N420D NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 420 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) TGGACTATTCAATGTAAGTTG 0.343 SLC32A1 140679 broad.mit.edu 37 20 37353478 37353478 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr20:37353478G>A uc002xjc.2 + 1 374 c.111G>A c.(109-111)ACG>ACA p.T37T NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 37 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) AGGCGGCCACGGATGAGGAGG 0.637 DIP2A 23181 broad.mit.edu 37 21 47918694 47918694 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr21:47918694G>A uc002zjo.2 + 5 786 c.603G>A c.(601-603)CCG>CCA p.P201P DIP2A_uc011afy.1_Silent_p.P137P|DIP2A_uc011afz.1_Silent_p.P201P|DIP2A_uc002zjl.2_Silent_p.P201P|DIP2A_uc002zjm.2_Silent_p.P201P|DIP2A_uc010gql.2_Silent_p.P201P|DIP2A_uc002zjn.2_Silent_p.P201P NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 201 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CAGCCACGCCGGGGGCCGCCG 0.667 EP300 2033 broad.mit.edu 37 22 41566511 41566511 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr22:41566511T>G uc003azl.3 + 27 4783 c.4388T>G c.(4387-4389)CTG>CGG p.L1463R NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1463 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CCCAAGCGACTGCAGGAATGG 0.478 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome PLXNB2 23654 broad.mit.edu 37 22 50720370 50720370 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr22:50720370G>A uc003bkv.3 - 20 3364 c.3258C>T c.(3256-3258)GCC>GCT p.A1086A PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.A71A NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1086 IPT/TIG 3.|Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGAAGGCCCCGGCCTCTGTTC 0.627 CNTN4 152330 broad.mit.edu 37 3 2613203 2613203 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr3:2613203G>A uc003bpc.2 + 3 237 c.16G>A c.(16-18)GAA>AAA p.E6K CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.E6K NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 6 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GTTGCCATGGGAACTGCTGGT 0.368 NUP210 23225 broad.mit.edu 37 3 13395089 13395089 + Missense_Mutation SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr3:13395089C>G uc003bxv.1 - 18 2676 c.2593G>C c.(2593-2595)GAG>CAG p.E865Q NUP210_uc003bxw.2_Missense_Mutation_p.E41Q|NUP210_uc003bxx.2_Missense_Mutation_p.E537Q NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 865 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) AGGTGGGACTCCTGGTAGCCA 0.587 NEK10 152110 broad.mit.edu 37 3 27152780 27152780 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr3:27152780G>A uc010hfk.2 - 17 1667 c.1438C>T c.(1438-1440)CAC>TAC p.H480Y NEK10_uc010hfj.2_Missense_Mutation_p.H423Y Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 1168 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TTGGTTGGGTGATTCTTGGTC 0.373 DCLK3 85443 broad.mit.edu 37 3 36779379 36779379 + Silent SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr3:36779379T>G uc003cgi.2 - 2 1263 c.772A>C c.(772-774)AGG>CGG p.R258R NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 258 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 TTCACCTCCCTCAGCCCCTCC 0.597 PIK3CA 5290 broad.mit.edu 37 3 178916639 178916639 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr3:178916639A>G uc003fjk.2 + 2 183 c.26A>G c.(25-27)GAA>GGA p.E9G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 9 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E9_R19del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATCAGGTGAACTGTGGGGC 0.403 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) MCF2L2 23101 broad.mit.edu 37 3 182925454 182925454 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr3:182925454C>T uc003fli.1 - 23 2744 c.2654G>A c.(2653-2655)CGA>CAA p.R885Q NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 885 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AGGCTCCATTCGTATCTTACA 0.433 PPARGC1A 10891 broad.mit.edu 37 4 23803389 23803389 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr4:23803389G>A uc003gqs.2 - 12 2377 c.2257C>T c.(2257-2259)CGC>TGC p.R753C PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 753 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AATTGCTTGCGTCCACAAAAG 0.403 LPHN3 23284 broad.mit.edu 37 4 62903554 62903554 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr4:62903554C>T uc010ihh.2 + 21 3666 c.3493C>T c.(3493-3495)CGC>TGC p.R1165C LPHN3_uc003hcq.3_Missense_Mutation_p.R1165C|LPHN3_uc003hct.2_Missense_Mutation_p.R549C NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1143 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 AACTCCTGGACGCTACTCCAC 0.408 TECRL 253017 broad.mit.edu 37 4 65188413 65188413 + Nonsense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr4:65188413C>T uc003hcv.2 - 4 538 c.429G>A c.(427-429)TGG>TGA p.W143* TECRL_uc003hcw.2_Nonsense_Mutation_p.W143* NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 143 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TTACTGTGGTCCAACTGACTT 0.343 PRDM9 56979 broad.mit.edu 37 5 23527567 23527567 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:23527567C>A uc003jgo.2 + 11 2552 c.2370C>A c.(2368-2370)AAC>AAA p.N790K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 790 C2H2-type 11. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATAAGTCAAACCTCCTCAGTC 0.557 HNSCC(3;0.000094) RXFP3 51289 broad.mit.edu 37 5 33937051 33937051 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:33937051G>T uc003jic.1 + 1 563 c.206G>T c.(205-207)GGC>GTC p.G69V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 69 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CCGGGCAGCGGCGGGGCAGAG 0.692 OXCT1 5019 broad.mit.edu 37 5 41762218 41762218 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:41762218C>T uc003jmn.2 - 14 1664 c.1333G>A c.(1333-1335)GCA>ACA p.A445T OXCT1_uc011cpo.1_Missense_Mutation_p.A48T|OXCT1_uc011cpp.1_Missense_Mutation_p.A48T NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 445 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) GTTACCTTTGCAGAATGCTCC 0.428 MCTP1 79772 broad.mit.edu 37 5 94224655 94224655 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:94224655T>C uc003kkx.2 - 12 1862 c.1862A>G c.(1861-1863)AAC>AGC p.N621S MCTP1_uc003kkv.2_Missense_Mutation_p.N400S|MCTP1_uc003kkw.2_Missense_Mutation_p.N354S|MCTP1_uc003kkz.2_Missense_Mutation_p.N282S|MCTP1_uc003kku.2_Missense_Mutation_p.N137S NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 621 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ATCTTTCAGGTTGTGAAATAT 0.443 PCDHB4 56131 broad.mit.edu 37 5 140501880 140501880 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:140501880G>A uc003lip.1 + 1 300 c.300G>A c.(298-300)CCG>CCA p.P100P NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 100 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTGAACCGTGTGTACTGC 0.463 MED7 9443 broad.mit.edu 37 5 156565878 156565878 + Missense_Mutation SNP T T C rs138235255 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:156565878T>C uc010jik.2 - 2 957 c.565A>G c.(565-567)ATG>GTG p.M189V MED7_uc003lwm.3_Missense_Mutation_p.M189V NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 189 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAGCATCCATTGGTTCAGTT 0.393 GABRA1 2554 broad.mit.edu 37 5 161317942 161317942 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:161317942A>G uc010jiw.2 + 9 1210 c.742A>G c.(742-744)AGA>GGA p.R248G GABRA1_uc010jix.2_Missense_Mutation_p.R248G|GABRA1_uc010jiy.2_Missense_Mutation_p.R248G|GABRA1_uc003lyx.3_Missense_Mutation_p.R248G|GABRA1_uc010jiz.2_Missense_Mutation_p.R248G|GABRA1_uc010jja.2_Missense_Mutation_p.R248G|GABRA1_uc010jjb.2_Missense_Mutation_p.R248G NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 248 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCACTTGAAGAGAAAGATTGG 0.388 FGFR4 2264 broad.mit.edu 37 5 176523169 176523169 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr5:176523169A>G uc003mfl.2 + 14 2100 c.1933A>G c.(1933-1935)AAA>GAA p.K645E FGFR4_uc003mfm.2_Missense_Mutation_p.K645E|FGFR4_uc011dfu.1_Missense_Mutation_p.K577E|FGFR4_uc003mfo.2_Missense_Mutation_p.K605E NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 645 Protein kinase.|Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CTACTATAAGAAAACCAGCAA 0.607 TSP Lung(9;0.080) OR2B2 81697 broad.mit.edu 37 6 27879418 27879418 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:27879418C>T uc011dkw.1 - 1 680 c.680G>A c.(679-681)AGA>AAA p.R227K NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGACTGGATTCTCAACACTGC 0.428 ZNF311 282890 broad.mit.edu 37 6 28963041 28963041 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:28963041C>T uc003nlu.2 - 7 2251 c.1738G>A c.(1738-1740)GAG>AAG p.E580K ZNF311_uc011dlk.1_Missense_Mutation_p.E488K|ZNF311_uc003nlv.2_Missense_Mutation_p.E488K NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TATGGCTTCTCACCAGTGTGG 0.488 DNAH8 1769 broad.mit.edu 37 6 38810483 38810483 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:38810483T>G uc003ooe.1 + 33 4598 c.3998T>G c.(3997-3999)TTG>TGG p.L1333W NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CAAGCTTTTTTGGATCTCAAA 0.368 RRAGD 58528 broad.mit.edu 37 6 90097256 90097256 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:90097256T>C uc003pnd.3 - 2 485 c.202A>G c.(202-204)ATG>GTG p.M68V RRAGD_uc010kcc.2_Intron NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 68 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity ovary(2)|central_nervous_system(1) 3 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CTCAGGCCCATGAGCAGGATT 0.458 MDN1 23195 broad.mit.edu 37 6 90428148 90428148 + Missense_Mutation SNP G G C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:90428148G>C uc003pnn.1 - 43 6636 c.6520C>G c.(6520-6522)CTA>GTA p.L2174V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2174 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACTGCTTCTAGTTTGTTGACA 0.408 GPR6 2830 broad.mit.edu 37 6 110300581 110300581 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:110300581A>G uc011eaw.1 + 2 446 c.266A>G c.(265-267)GAA>GGA p.E89G GPR6_uc011eav.1_Missense_Mutation_p.E104G|GPR6_uc003ptu.2_Missense_Mutation_p.E89G NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 89 Helical; Name=1; (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) ATCGCTGGAGAAAACGCGCTG 0.687 ENPP1 5167 broad.mit.edu 37 6 132176074 132176074 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:132176074C>T uc011ecf.1 + 6 646 c.626C>T c.(625-627)ACG>ATG p.T209M NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 209 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AGGTTTGAAACGCCTCCTACC 0.393 UTRN 7402 broad.mit.edu 37 6 145119080 145119080 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr6:145119080C>A uc003qkt.2 + 63 9291 c.9199C>A c.(9199-9201)CAG>AAG p.Q3067K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3067 Interaction with SYNM.|ZZ-type. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGCAAAACATCAGGCCAAATG 0.458 PRKAR1B 5575 broad.mit.edu 37 7 635929 635929 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:635929C>T uc003siu.1 - 8 668 c.562G>A c.(562-564)GGA>AGA p.G188R PRKAR1B_uc003siv.2_Missense_Mutation_p.G188R|PRKAR1B_uc003siw.1_Missense_Mutation_p.G188R|PRKAR1B_uc003six.1_RNA NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 188 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) ACCCACTCTCCGTTCACGTAC 0.612 EIF3B 8662 broad.mit.edu 37 7 2402282 2402282 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:2402282A>G uc003slx.2 + 3 778 c.695A>G c.(694-696)TAT>TGT p.Y232C EIF3B_uc003sly.2_Missense_Mutation_p.Y232C|EIF3B_uc003slz.1_Missense_Mutation_p.Y193C|EIF3B_uc003sma.2_5'UTR NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 232 Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) TCACTCAGGTATATTTTCCTG 0.463 RAPGEF5 9771 broad.mit.edu 37 7 22197496 22197496 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:22197496C>T uc003svg.2 - 15 1388 c.1075G>A c.(1075-1077)GAT>AAT p.D359N RAPGEF5_uc011jyl.1_Missense_Mutation_p.D40N NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 209 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 GAATATTCATCTACAGTGCTG 0.413 CREB5 9586 broad.mit.edu 37 7 28857755 28857755 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:28857755G>T uc003szq.2 + 10 1712 c.1322G>T c.(1321-1323)TGC>TTC p.C441F CREB5_uc003szo.2_Missense_Mutation_p.C408F|CREB5_uc003szr.2_Missense_Mutation_p.C434F|CREB5_uc003szs.2_Missense_Mutation_p.C302F NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 441 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 CATAAAGACTGCCCAATAACA 0.358 CAV1 857 broad.mit.edu 37 7 116166604 116166604 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:116166604G>A uc003vif.1 + 2 334 c.56G>A c.(55-57)CGG>CAG p.R19Q CAV1_uc010lkd.1_5'UTR|CAV1_uc010lke.1_5'UTR|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_5'UTR|CAV1_uc010lkf.1_5'UTR NM_001753 NP_001744 Q03135 CAV1_HUMAN caveolin 1 19 Cytoplasmic (Potential). blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding 0 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) GTTCCCATCCGGGAACAGGGC 0.602 OREG0018273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ANKRD7 56311 broad.mit.edu 37 7 117876121 117876121 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:117876121C>T uc003vji.2 + 4 668 c.495C>T c.(493-495)GCC>GCT p.A165A NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 165 ANK 4. male gonad development 0 TATTAGTTGCCGTTATTAACA 0.259 CPA4 51200 broad.mit.edu 37 7 129962450 129962450 + Silent SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:129962450C>G uc003vpr.2 + 11 1247 c.1200C>G c.(1198-1200)CCC>CCG p.P400P CPA4_uc011kpd.1_Silent_p.P367P|CPA4_uc011kpe.1_Silent_p.P296P NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 400 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) AGATCATCCCCACTGCAGAGG 0.512 EXOC4 60412 broad.mit.edu 37 7 132990651 132990651 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:132990651G>A uc003vrk.2 + 4 527 c.492G>A c.(490-492)TTG>TTA p.L164L EXOC4_uc011kpo.1_Silent_p.L63L|EXOC4_uc003vri.2_Silent_p.L164L|EXOC4_uc003vrj.2_Silent_p.L164L NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 164 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) TTGAGTCTTTGGAGGGCCCCC 0.408 CHPF2 54480 broad.mit.edu 37 7 150932532 150932532 + Missense_Mutation SNP G G A rs148527739 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr7:150932532G>A uc003wjr.1 + 2 2175 c.662G>A c.(661-663)CGG>CAG p.R221Q CHPF2_uc003wjq.1_Missense_Mutation_p.R213Q|MIR671_hsa-mir-671|MI0003760_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 221 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 GAGCAGGCCCGGTACTGTCAT 0.632 MSR1 4481 broad.mit.edu 37 8 15978038 15978038 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr8:15978038A>T uc003wwz.2 - 9 1309 c.1111T>A c.(1111-1113)TGG>AGG p.W371R MSR1_uc010lsu.2_Missense_Mutation_p.W389R|MSR1_uc003wxa.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 371 SRCR.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATTGTACCCCACTGGCCGCTG 0.537 SNTG1 54212 broad.mit.edu 37 8 51449257 51449257 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr8:51449257C>T uc010lxy.1 + 12 940 c.569C>T c.(568-570)TCG>TTG p.S190L SNTG1_uc003xqs.1_Missense_Mutation_p.S190L|SNTG1_uc010lxz.1_Missense_Mutation_p.S190L|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 190 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCATGCTCGTCGTGGCCGACG 0.478 SLC26A7 115111 broad.mit.edu 37 8 92330586 92330586 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr8:92330586C>A uc003yex.2 + 6 898 c.620C>A c.(619-621)TCC>TAC p.S207Y SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.S207Y|SLC26A7_uc003yfa.2_Missense_Mutation_p.S207Y NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 207 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CCATATATATCCGGACCACTT 0.393 KCNS2 3788 broad.mit.edu 37 8 99440584 99440584 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr8:99440584G>A uc003yin.2 + 2 727 c.377G>A c.(376-378)CGC>CAC p.R126H NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 126 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TACCATGGCCGCAAAGTAGAG 0.552 TAF2 6873 broad.mit.edu 37 8 120758995 120758995 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr8:120758995C>T uc003you.2 - 23 3328 c.3058G>A c.(3058-3060)GCT>ACT p.A1020T NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 1020 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTATTTGCAGCTTCTTGGTTG 0.408 COL22A1 169044 broad.mit.edu 37 8 139833571 139833571 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr8:139833571G>A uc003yvd.2 - 7 1500 c.1053C>T c.(1051-1053)TTC>TTT p.F351F NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 351 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAGAACCTCGGAAGACCACCC 0.582 HNSCC(7;0.00092) DDX58 23586 broad.mit.edu 37 9 32457294 32457294 + Missense_Mutation SNP G G C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr9:32457294G>C uc003zra.2 - 18 2762 c.2604C>G c.(2602-2604)AAC>AAG p.N868K DDX58_uc010mjj.2_RNA|DDX58_uc010mji.2_Missense_Mutation_p.N797K NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 868 Repressor domain. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) CATGGCTGCAGTTCTGTCGGG 0.403 DNAJB5 25822 broad.mit.edu 37 9 34993304 34993304 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr9:34993304G>A uc003zvt.2 + 2 212 c.74G>A c.(73-75)CGG>CAG p.R25Q DNAJB5_uc003zvs.2_Missense_Mutation_p.R59Q|DNAJB5_uc011los.1_Missense_Mutation_p.R97Q NM_012266 NP_036398 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 25 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(32;0.00575) AAAGCCTACCGGAAGATGGCC 0.498 WNK2 65268 broad.mit.edu 37 9 96021401 96021401 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr9:96021401G>A uc004ati.1 + 11 2571 c.2571G>A c.(2569-2571)CAG>CAA p.Q857Q WNK2_uc011lud.1_Silent_p.Q857Q|WNK2_uc004atj.2_Silent_p.Q857Q|WNK2_uc004atk.2_Silent_p.Q494Q|WNK2_uc010mrc.1_Silent_p.Q805Q NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 857 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 TGCCTCTGCAGGCTGTGAAGC 0.687 ASTN2 23245 broad.mit.edu 37 9 119976958 119976958 + Missense_Mutation SNP G G A rs138260564 TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr9:119976958G>A uc004bjs.1 - 3 795 c.694C>T c.(694-696)CGT>TGT p.R232C ASTN2_uc004bjr.1_Missense_Mutation_p.R232C|ASTN2_uc004bjt.1_Missense_Mutation_p.R232C NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 232 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TTCTGCCAACGTCGCTGGGCG 0.632 SEC16A 9919 broad.mit.edu 37 9 139369132 139369132 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr9:139369132T>C uc004chx.2 - 3 3245 c.2936A>G c.(2935-2937)AAT>AGT p.N979S SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.N979S|SEC16A_uc010nbn.2_Missense_Mutation_p.N979S|SEC16A_uc010nbo.1_Missense_Mutation_p.N979S NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 801 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GTTTGCCTTATTACCATCAGG 0.502 ASMTL 8623 broad.mit.edu 37 X 1522378 1522378 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chrX:1522378G>A uc004cpx.1 - 13 1761 c.1650C>T c.(1648-1650)GCC>GCT p.A550A NCRNA00105_uc004cpv.2_RNA|NCRNA00105_uc004cpw.2_RNA|ASMTL_uc011mhe.1_Silent_p.A474A|ASMTL_uc004cpy.1_Silent_p.A534A|ASMTL_uc011mhf.1_Silent_p.A492A NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 550 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGCAGGCCGGCCCCTGAGG 0.642 MXRA5 25878 broad.mit.edu 37 X 3227994 3227994 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chrX:3227994G>A uc004crg.3 - 7 8407 c.8250C>T c.(8248-8250)ACC>ACT p.T2750T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2750 Ig-like C2-type 12. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCAGTTTCACGGTGTTCCCGG 0.597 CLCN5 1184 broad.mit.edu 37 X 49855541 49855541 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chrX:49855541C>T uc004dos.1 + 11 2396 c.2148C>T c.(2146-2148)AAC>AAT p.N716N CLCN5_uc004dor.1_Silent_p.N786N|CLCN5_uc004doq.1_Silent_p.N786N|CLCN5_uc004dot.1_Silent_p.N716N NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 716 CBS 2.|Cytoplasmic (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) TTACACACAACGGGTAAGAAG 0.408 COL4A6 1288 broad.mit.edu 37 X 107412792 107412792 + Silent SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chrX:107412792T>C uc004enw.3 - 37 3730 c.3627A>G c.(3625-3627)AAA>AAG p.K1209K COL4A6_uc004env.3_Silent_p.K1208K|COL4A6_uc011msn.1_Silent_p.K1184K|COL4A6_uc010npk.2_Silent_p.K1184K NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1209 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CTGGATATCCTTTTTCTCCTT 0.587 Alport_syndrome_with_Diffuse_Leiomyomatosis ZNF280C 55609 broad.mit.edu 37 X 129339386 129339386 + Silent SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chrX:129339386G>T uc004evm.2 - 17 2200 c.2046C>A c.(2044-2046)GGC>GGA p.G682G NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 682 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 CTAGAGTAATGCCCCTATGAA 0.338 MAP1S 55201 broad.mit.edu 37 19 17837325 17837325 + Frame_Shift_Del DEL C C - TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr19:17837325delC uc002nhe.1 + 5 1141 c.1132delC c.(1132-1134)CCAfs p.P378fs MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Frame_Shift_Del_p.P378fs|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Frame_Shift_Del_p.P352fs NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 378 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 CGGCCCCGTGCCAGCCAAACC 0.736 USH2A 7399 broad.mit.edu 37 1 215963510 215963537 + Frame_Shift_Del DEL CATTTTACTGGCACCGGGTCATTCTTTT CATTTTACTGGCACCGGGTCATTCTTTT - rs147842359 byFrequency TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac g.chr1:215963509_215963536GCATTTTACTGGCACCGGGTCATTCTTTT>G uc001hku.1 - 50 10434_10461 c.10047_10074AAAAGAATGACCCGGTGCCAGTAAAATGC>C c.(10045-10074)aaaaagaatgacccggtgccagtaaaatgcfs p.K3349fs NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3349 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P3353Q(2)|p.D3352N(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGTCTCACAGCATTTTACTGGCACCGGGTCATTCTTTTTAATATGTG 0.390 HNSCC(13;0.011)