Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut EPHA10 284656 broad.mit.edu 37 1 38184465 38184465 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:38184465C>T uc009vvi.2 - 16 2866 c.2780G>A c.(2779-2781)CGT>CAT p.R927H EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 927 Cytoplasmic (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGAGAAGGCACGGTCCGCTAG 0.677 NA 8 26 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39905138 39905138 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:39905138C>T uc010oiu.1 + 37 13873 c.13742C>T c.(13741-13743)CCT>CTT p.P4581L MACF1_uc010ois.1_Missense_Mutation_p.P4079L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCATTGATCCTTCCATCATC 0.433 NA 9 62 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44075146 44075146 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:44075146G>A uc001cjr.2 + 22 4290 c.3950G>A c.(3949-3951)CGG>CAG p.R1317Q PTPRF_uc001cjs.2_Missense_Mutation_p.R1308Q|PTPRF_uc001cju.2_Missense_Mutation_p.R695Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R877Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R777Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R543Q NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1317 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTGGAGATGCGGAGGCTCAAC 0.602 NA 3 42 0 0 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659453 50659453 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:50659453C>T uc001csb.2 + 4 639 c.371C>T c.(370-372)CCG>CTG p.P124L ELAVL4_uc001cry.3_Missense_Mutation_p.P127L|ELAVL4_uc001crz.3_Missense_Mutation_p.P124L|ELAVL4_uc001csa.3_Missense_Mutation_p.P141L|ELAVL4_uc001csc.3_Missense_Mutation_p.P124L|ELAVL4_uc009vyu.2_Missense_Mutation_p.P129L|ELAVL4_uc010omz.1_Missense_Mutation_p.P129L NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 124 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 TATGCCCGTCCGAGCTCTGCC 0.507 NA 20 113 0 0 0 0 HOOK1 51361 broad.mit.edu 37 1 60309254 60309254 + Nonsense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:60309254C>T uc009wad.2 + 10 874 c.772C>T c.(772-774)CAG>TAG p.Q258* HOOK1_uc001czo.2_Nonsense_Mutation_p.Q258*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.Q216* NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 258 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) AGAACAATTACAGGAAGAAAA 0.328 NA 6 60 0 0 0 0 MTMR11 10903 broad.mit.edu 37 1 149902780 149902780 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:149902780C>T uc001etl.3 - 14 1619 c.1368G>A c.(1366-1368)GAG>GAA p.E456E SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Silent_p.E384E|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 456 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GAAGGAAAAACTCAGAGAATT 0.498 NA 4 86 0 0 0 0 TCHH 7062 broad.mit.edu 37 1 152084677 152084678 + Missense_Mutation DNP AG AG TC TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:152084677_152084678AG>TC uc001ezp.2 - 2 1015_1016 c.1015_1016CT>GA c.(1015-1017)CTG>GAG p.L339E TCHH_uc009wne.1_Missense_Mutation_p.L339E NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 339 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) ctcgcgcctcagctgctgctcg 0 NA 3 11 0 0 0 0 OR6K2 81448 broad.mit.edu 37 1 158670019 158670019 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:158670019G>T uc001fsu.1 - 1 424 c.424C>A c.(424-426)CAA>AAA p.Q142K NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AAAGTCAGTTGGGTACATAGC 0.473 NA 8 60 3.1e-07 3.59e-07 1 0 USF1 7391 broad.mit.edu 37 1 161011574 161011574 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:161011574C>T uc001fxi.2 - 6 534 c.339G>A c.(337-339)GAG>GAA p.E113E F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.E54E NM_007122 NP_009053 P22415 USF1_HUMAN upstream stimulatory factor 1 isoform 1 113 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TATAGTGCGTCTCAGCAGCTG 0.567 NA OREG0013936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 83 0 0 0 0 SOX13 9580 broad.mit.edu 37 1 204085665 204085665 + Missense_Mutation SNP T T C TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:204085665T>C uc001ham.2 + 5 1044 c.449T>C c.(448-450)CTC>CCC p.L150P SOX13_uc001hal.2_Missense_Mutation_p.L150P|SOX13_uc010pqp.1_Missense_Mutation_p.L150P|SOX13_uc010pqq.1_Missense_Mutation_p.L17P NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 150 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GAGAAGGAGCTCCAGCTTCTG 0.473 NA 19 77 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215802185 215802185 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:215802185C>T uc001hku.1 - 71 15877 c.15490G>A c.(15490-15492)GAA>AAA p.E5164K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5164 Cytoplasmic (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATGATGGCTTCCCACAGTGAG 0.493 NA HNSCC(13;0.011) 9 104 0 0 0 0 MLLT10 8028 broad.mit.edu 37 10 21959517 21959517 + Missense_Mutation SNP G G C TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr10:21959517G>C uc001iqs.2 + 10 1283 c.935G>C c.(934-936)GGG>GCG p.G312A MLLT10_uc001iqt.2_Missense_Mutation_p.G312A|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.G312A|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_Missense_Mutation_p.G67A NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 312 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 GAGACTAGAGGGTCAGAGGGC 0.468 NA T MLL|PICALM|CDK6 AL 6 45 0 0 0 0 OR52A4 390053 broad.mit.edu 37 11 5142407 5142407 + Silent SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr11:5142407C>A uc001lzz.1 - 1 402 c.402G>T c.(400-402)CTG>CTT p.L134L OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TAGCACGCCTCAGAGGATAAC 0.473 NA 7 35 0.00198382 0.00213767 1 0 E2F8 79733 broad.mit.edu 37 11 19252273 19252273 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr11:19252273G>A uc001mpm.2 - 8 1697 c.1175C>T c.(1174-1176)ACT>ATT p.T392I E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.T392I NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 392 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TGGGTGTCGAGTAAAGTTTGG 0.423 NA 18 84 0 0 0 0 OR5M1 390168 broad.mit.edu 37 11 56380079 56380079 + Silent SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr11:56380079G>A uc001nja.1 - 1 900 c.900C>T c.(898-900)GCC>GCT p.A300A NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TTTGTTGCATGGCAAGGATTA 0.388 NA 37 190 0 0 0 0 OR5B2 390190 broad.mit.edu 37 11 58189994 58189994 + Silent SNP G G T rs150284257 TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr11:58189994G>T uc010rkg.1 - 1 741 c.741C>A c.(739-741)TCC>TCA p.S247S NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATAGAAGACGGAGACTGCAG 0.463 NA 9 46 0.000274275 0.000300451 1 0 BRMS1 25855 broad.mit.edu 37 11 66109064 66109064 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr11:66109064C>T uc001ohp.1 - 3 317 c.170G>A c.(169-171)CGC>CAC p.R57H BRMS1_uc001oho.1_Missense_Mutation_p.R57H|BRMS1_uc009yre.2_5'Flank NM_015399 NP_056214 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 isoform 1 57 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding 0 ACACTCGCTGCGGCGTCGCTC 0.542 NA 5 278 0 0 0 0 FAM55B 120406 broad.mit.edu 37 11 114569215 114569215 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr11:114569215T>A uc009yyy.2 + 3 679 c.581T>A c.(580-582)ATC>AAC p.I194N NM_182495 NP_872301 Q96DL1 FA55B_HUMAN hypothetical protein LOC120406 194 integral to membrane ovary(1) 1 CTGCTGCTCATCCACCCCAGT 0.542 NA 4 27 0 0 0 0 WNK1 65125 broad.mit.edu 37 12 971429 971429 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:971429C>T uc001qio.3 + 8 2639 c.2132C>T c.(2131-2133)TCA>TTA p.S711L WNK1_uc001qip.3_Missense_Mutation_p.S711L|WNK1_uc001qir.3_Missense_Mutation_p.S158L NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 711 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TATCCACCCTCAAGTGTGGTA 0.428 NA 17 53 0 0 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1889793 1889793 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:1889793C>T uc001qjm.2 + 5 837 c.640C>T c.(640-642)CTC>TTC p.L214F ADIPOR2_uc001qjn.2_Missense_Mutation_p.L214F NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 214 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GGTCTCTCGGCTCTTCTCTAA 0.428 NA 54 258 0 0 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788183 3788183 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:3788183T>A uc001qmj.2 - 6 994 c.422A>T c.(421-423)TAT>TTT p.Y141F EFCAB4B_uc010sen.1_Missense_Mutation_p.Y141F|EFCAB4B_uc010seo.1_Missense_Mutation_p.Y141F NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 141 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TCTGGACAGATACACCTTCTC 0.557 NA 13 110 0 0 0 0 PLBD1 79887 broad.mit.edu 37 12 14659876 14659876 + Nonsense_Mutation SNP G G A rs145582746 TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:14659876G>A uc001rcc.1 - 9 1524 c.1363C>T c.(1363-1365)CGA>TGA p.R455* NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 455 lipid catabolic process extracellular region hydrolase activity 0 CTGTTGTATCGCATGATATAT 0.403 NA 23 112 0 0 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54891638 54891638 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:54891638G>T uc001sgc.3 + 1 144 c.65G>T c.(64-66)GGT>GTT p.G22V NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_5'Flank NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 22 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 AATGATCGCGGTCAGGGGGTT 0.453 NA 5 52 1.24e-05 1.4e-05 1 0 MON2 23041 broad.mit.edu 37 12 62954394 62954394 + Missense_Mutation SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:62954394C>A uc001sre.2 + 26 3924 c.3533C>A c.(3532-3534)CCT>CAT p.P1178H MON2_uc009zqj.2_Missense_Mutation_p.P1178H|MON2_uc010ssl.1_Missense_Mutation_p.P1106H|MON2_uc010ssm.1_Missense_Mutation_p.P1155H|MON2_uc010ssn.1_Missense_Mutation_p.P1178H|MON2_uc001srf.2_Missense_Mutation_p.P941H|MON2_uc001srg.2_Missense_Mutation_p.P53H NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1179 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) ATTGTGTCCCCTGTCAGAGAC 0.448 NA 11 71 0.000673444 0.000734666 1 0 TSPAN8 7103 broad.mit.edu 37 12 71531971 71531971 + Missense_Mutation SNP C C A rs140330026 by1000genomes TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:71531971C>A uc009zrt.1 - 4 463 c.301G>T c.(301-303)GCG>TCG p.A101S TSPAN8_uc001swk.1_Missense_Mutation_p.A101S|TSPAN8_uc001swj.1_Missense_Mutation_p.A101S NM_004616 NP_004607 P19075 TSN8_HUMAN transmembrane 4 superfamily member 3 101 Helical; (Potential). protein glycosylation integral to membrane|lysosome signal transducer activity skin(2)|lung(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) ATACCTGTCGCCACCTGCAGG 0.393 NA 28 144 1.32e-22 1.6e-22 1 0 SCARB1 949 broad.mit.edu 37 12 125270878 125270878 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr12:125270878G>A uc001ugo.3 - 11 1679 c.1426C>T c.(1426-1428)CGG>TGG p.R476W SCARB1_uc001ugn.3_Intron|SCARB1_uc001ugm.3_Intron|SCARB1_uc010tbd.1_Intron|SCARB1_uc010tbe.1_Missense_Mutation_p.R435W|SCARB1_uc001ugp.3_Missense_Mutation_p.R476W NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 476 Cytoplasmic (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) CTGTCAGCCCGGGCTGCCCTC 0.667 NA 26 126 0 0 0 0 TPTE2 93492 broad.mit.edu 37 13 20000607 20000607 + Silent SNP A A G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr13:20000607A>G uc001umd.2 - 19 1564 c.1353T>C c.(1351-1353)GGT>GGC p.G451G TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Silent_p.G340G|TPTE2_uc001ume.2_Silent_p.G374G|TPTE2_uc009zzm.2_Silent_p.G122G|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Silent_p.G122G NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 451 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACAGAGGTGGACCGTCATATA 0.338 NA 24 88 0 0 0 0 ZMYM5 9205 broad.mit.edu 37 13 20399104 20399104 + Missense_Mutation SNP T T G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr13:20399104T>G uc010tcn.1 - 8 1788 c.1523A>C c.(1522-1524)AAT>ACT p.N508T ZMYM5_uc001umm.1_Missense_Mutation_p.N332T NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 508 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) gtcttcaaaatttttctcttc 0 NA 2 14 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46725072 46725072 + Missense_Mutation SNP T T C TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr13:46725072T>C uc001vaz.3 - 8 1007 c.881A>G c.(880-882)AAG>AGG p.K294R LCP1_uc001vba.3_Missense_Mutation_p.K294R NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 294 CH 2.|Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCCTCCTACCTTGATGTCAGT 0.448 NA T BCL6 NHL 51 99 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109777522 109777522 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr13:109777522G>A uc001vqt.1 + 30 3658 c.3532G>A c.(3532-3534)GTG>ATG p.V1178M MYO16_uc010agk.1_Missense_Mutation_p.V1200M|MYO16_uc010tjh.1_Missense_Mutation_p.V690M NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1178 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACAACAAGAGGTGACTTCTAT 0.438 NA 17 25 0 0 0 0 C14orf4 64207 broad.mit.edu 37 14 77492316 77492316 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr14:77492316G>A uc001xsy.2 - 1 2719 c.1820C>T c.(1819-1821)TCC>TTC p.S607F NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 607 Pro-rich. nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) GGTCCGGTTGGAATGGGGTCC 0.517 NA 3 12 0 0 0 0 ASB2 51676 broad.mit.edu 37 14 94413768 94413768 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr14:94413768C>T uc001ycc.1 - 5 1324 c.835G>A c.(835-837)GGT>AGT p.G279S ASB2_uc001ycd.2_Missense_Mutation_p.G327S|ASB2_uc001yce.1_Missense_Mutation_p.G225S NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 279 ANK 7. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCGTCGGCACCCTGTGACAGC 0.612 NA 19 72 0 0 0 0 RTL1 388015 broad.mit.edu 37 14 101349254 101349254 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr14:101349254T>A uc010txj.1 - 1 1931 c.1872A>T c.(1870-1872)CAA>CAT p.Q624H uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 624 pancreas(1) 1 TGGCTCTTTCTTGCATCCTGG 0.547 NA 4 19 0 0 0 0 ZNF770 54989 broad.mit.edu 37 15 35274909 35274909 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr15:35274909C>T uc001ziw.2 - 3 1038 c.727G>A c.(727-729)GCT>ACT p.A243T NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) GCCCGAAAAGCCTTATTCCTA 0.363 NA 20 51 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3817904 3817904 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr16:3817904C>T uc002cvv.2 - 16 3271 c.3067G>A c.(3067-3069)GAG>AAG p.E1023K CREBBP_uc002cvw.2_Missense_Mutation_p.E985K NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1023 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AAATCCTCCTCCATCATCTTG 0.388 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 22 132 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20432686 20432686 + Missense_Mutation SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr16:20432686C>A uc002dhe.2 + 5 877 c.730C>A c.(730-732)CAG>AAG p.Q244K NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 244 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CGAGCACTCCCAGAGCAGCTA 0.423 NA 8 41 5.18e-06 5.89e-06 1 0 SLC5A11 115584 broad.mit.edu 37 16 24921693 24921693 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr16:24921693G>A uc002dmu.2 + 15 1949 c.1717G>A c.(1717-1719)GCT>ACT p.A573T SLC5A11_uc002dms.2_Missense_Mutation_p.A509T|SLC5A11_uc010vcd.1_Missense_Mutation_p.A538T|SLC5A11_uc002dmt.2_Missense_Mutation_p.A417T|SLC5A11_uc010vce.1_Missense_Mutation_p.A503T|SLC5A11_uc010bxt.2_Missense_Mutation_p.A509T|SLC5A11_uc002dmv.2_Missense_Mutation_p.A196T NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 573 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) ACCACCAGCAGCTCCCTTGTC 0.542 NA 25 119 0 0 0 0 PLA2G15 23659 broad.mit.edu 37 16 68289188 68289188 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr16:68289188C>T uc002evr.2 + 4 490 c.407C>T c.(406-408)TCC>TTC p.S136F PLA2G15_uc010vld.1_Missense_Mutation_p.S136F|PLA2G15_uc010vle.1_Missense_Mutation_p.P84S|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 136 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 TCTACAGGTTCCTATTTCCAC 0.557 NA 8 28 0 0 0 0 DHODH 1723 broad.mit.edu 37 16 72057436 72057436 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr16:72057436G>A uc002fbp.2 + 8 1058 c.1037G>A c.(1036-1038)CGG>CAG p.R346Q DHODH_uc010cgk.2_RNA NM_001361 NP_001352 Q02127 PYRD_HUMAN dihydroorotate dehydrogenase precursor 346 Mitochondrial intermembrane (By similarity). R -> W (in POADS). 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity 0 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) GAGAAGATCCGGGCAGGGGCC 0.607 NA 29 113 0 0 0 0 WFDC1 58189 broad.mit.edu 37 16 84328674 84328674 + Missense_Mutation SNP A A T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr16:84328674A>T uc002fhw.2 + 1 274 c.97A>T c.(97-99)AAT>TAT p.N33Y WFDC1_uc002fhv.2_Missense_Mutation_p.N33Y NM_021197 NP_067020 Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 precursor 33 N -> D (in Ref. 3; BAC11377). negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1) 1 CTCTGCCAAGAATATCTGGAA 0.632 NA 25 120 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:7578271T>G uc002gim.2 - 6 772 c.578A>C c.(577-579)CAT>CCT p.H193P TP53_uc002gig.1_Missense_Mutation_p.H193P|TP53_uc002gih.2_Missense_Mutation_p.H193P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61P|TP53_uc010cng.1_Missense_Mutation_p.H61P|TP53_uc002gii.1_Missense_Mutation_p.H61P|TP53_uc010cnh.1_Missense_Mutation_p.H193P|TP53_uc010cni.1_Missense_Mutation_p.H193P|TP53_uc002gij.2_Missense_Mutation_p.H193P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100P|TP53_uc002gio.2_Missense_Mutation_p.H61P|TP53_uc010vug.1_Missense_Mutation_p.H154P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 50 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:7578395G>A uc002gim.2 - 5 729 c.535C>T c.(535-537)CAT>TAT p.H179Y TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCTCATGGTGGGGGCAG 0.642 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 58 0 0 0 0 CCDC42 146849 broad.mit.edu 37 17 8638565 8638565 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:8638565C>T uc002gln.2 - 6 949 c.722G>A c.(721-723)CGC>CAC p.R241H CCDC42_uc002glo.2_Missense_Mutation_p.R167H NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 241 ovary(1) 1 GTGCGCCCAGCGAGATTCCTG 0.473 NA 5 56 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10351237 10351237 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:10351237C>T uc002gmn.2 - 34 4974 c.4863G>A c.(4861-4863)AAG>AAA p.K1621K uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1621 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CTCCCTCCATCTTCTTCTTGA 0.458 NA 9 278 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12639605 12639605 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:12639605C>T uc002gnn.2 + 6 842 c.543C>T c.(541-543)GAC>GAT p.D181D MYOCD_uc002gno.2_Silent_p.D181D|MYOCD_uc002gnp.1_Silent_p.D85D NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 181 HDAC5-binding (By similarity). cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCCGCCAGACGCTAAAGCCT 0.488 NA 26 119 0 0 0 0 IMP5 162540 broad.mit.edu 37 17 43923368 43923368 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:43923368C>T uc010wka.1 + 1 1096 c.1096C>T c.(1096-1098)CGT>TGT p.R366C LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 366 Extracellular (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) CGTCCTGCACCGTGTGCGGCT 0.582 NA 13 34 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48699100 48699100 + Missense_Mutation SNP A A T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr17:48699100A>T uc002irk.1 + 35 6377 c.6005A>T c.(6004-6006)GAT>GTT p.D2002V CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Missense_Mutation_p.D1979V|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.D1931V|CACNA1G_uc002iru.1_Missense_Mutation_p.D1968V|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.D1904V|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 2002 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCTCTGACGGATGACTCTTTG 0.547 NA 5 67 0 0 0 0 DLGAP1 9229 broad.mit.edu 37 18 3880018 3880018 + Silent SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr18:3880018G>A uc002kmf.2 - 1 118 c.51C>T c.(49-51)GAC>GAT p.D17D DLGAP1_uc010wyz.1_Silent_p.D17D|DLGAP1_uc002kmk.2_Silent_p.D17D|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 17 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CACAGGCCGAGTCGCAGGTGA 0.662 NA 14 27 0 0 0 0 CHST9 83539 broad.mit.edu 37 18 24496367 24496367 + Missense_Mutation SNP C C G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr18:24496367C>G uc002kwd.2 - 5 1386 c.1188G>C c.(1186-1188)AAG>AAC p.K396N C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.K311N|CHST9_uc002kwe.2_Missense_Mutation_p.K396N NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 396 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) AGTGCCTATCCTTAAAGTTGG 0.368 NA 47 165 0 0 0 0 CPLX4 339302 broad.mit.edu 37 18 56963955 56963955 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr18:56963955G>A uc002lhy.2 - 3 645 c.458C>T c.(457-459)GCG>GTG p.A153V NM_181654 NP_857637 Q7Z7G2 CPLX4_HUMAN complexin 4 precursor 153 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding ovary(1) 1 Colorectal(73;0.175) CTTCTGCTCCGCTGTCTGCTT 0.498 NA 13 60 0 0 0 0 INSR 3643 broad.mit.edu 37 19 7122639 7122639 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr19:7122639G>A uc002mgd.1 - 19 3624 c.3515C>T c.(3514-3516)ACT>ATT p.T1172I INSR_uc002mge.1_Missense_Mutation_p.T1160I NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1172 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATTTTGACAGTAAAATCATG 0.488 NA 3 94 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9056421 9056421 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr19:9056421G>A uc002mkp.2 - 3 31229 c.31025C>T c.(31024-31026)TCT>TTT p.S10342F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10344 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATGGTTGAAGAATCAGTGGT 0.532 NA 20 54 0 0 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038133 16038133 + Silent SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr19:16038133C>A uc002nbu.2 - 5 450 c.414G>T c.(412-414)CTG>CTT p.L138L CYP4F11_uc010eab.1_Silent_p.L138L|CYP4F11_uc002nbt.2_Silent_p.L138L NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 138 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 CACCACCACTCAGCAGGAGCC 0.527 NA 21 102 0.00229938 0.00246762 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768676 31768676 + Missense_Mutation SNP G G A rs143305127 TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr19:31768676G>A uc002nsy.3 - 2 2088 c.2023C>T c.(2023-2025)CGG>TGG p.R675W NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 675 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CACCCATCCCGCGGGGGGCTG 0.652 NA 15 56 0 0 0 0 TFPT 29844 broad.mit.edu 37 19 54613495 54613495 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr19:54613495G>A uc010yej.1 - 3 698 c.292C>T c.(292-294)CGG>TGG p.R98W TFPT_uc010erd.2_Missense_Mutation_p.R98W NM_013342 NP_037474 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner 98 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding 0 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) TTCAGGACCCGCTCGTTCACC 0.577 NA T TCF3 pre-B ALL 11 39 0 0 0 0 SNTG2 54221 broad.mit.edu 37 2 1263157 1263157 + Missense_Mutation SNP T T G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:1263157T>G uc002qwq.2 + 13 1149 c.1021T>G c.(1021-1023)TGG>GGG p.W341G SNTG2_uc010ewi.2_Missense_Mutation_p.W214G NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 341 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CACATTCGATTGGGTGCGAGC 0.383 NA 12 92 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163374452 163374452 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:163374452G>A uc002uch.1 - 4 892 c.680C>T c.(679-681)CCC>CTC p.P227L KCNH7_uc002uci.2_Missense_Mutation_p.P227L NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 227 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ATTCACCAAGGGAGAACATTT 0.483 NA 11 134 0 0 0 0 FIGN 55137 broad.mit.edu 37 2 164467456 164467456 + Nonsense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:164467456G>A uc002uck.1 - 3 1197 c.886C>T c.(886-888)CAG>TAG p.Q296* NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 296 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CCATGGCCCTGGTAGGTGTAG 0.577 NA 8 78 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167055551 167055551 + Missense_Mutation SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:167055551C>A uc010fpl.2 - 27 5906 c.5565G>T c.(5563-5565)AGG>AGT p.R1855S uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1866 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGACATGAACCTTTCTTCCA 0.443 NA 13 117 0.00136819 0.00148643 1 0 TTN 7273 broad.mit.edu 37 2 179435645 179435645 + Missense_Mutation SNP C C G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:179435645C>G uc010zfg.1 - 275 67734 c.67510G>C c.(67510-67512)GTT>CTT p.V22504L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V16199L|TTN_uc010zfi.1_Missense_Mutation_p.V16132L|TTN_uc010zfj.1_Missense_Mutation_p.V16007L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23431 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATCTTCAACTAGGCCAGTT 0.418 NA 37 158 0 0 0 0 NRP2 8828 broad.mit.edu 37 2 206628571 206628571 + Missense_Mutation SNP A A G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:206628571A>G uc002vaw.2 + 13 3009 c.2218A>G c.(2218-2220)AGC>GGC p.S740G NRP2_uc002vau.2_Missense_Mutation_p.S740G|NRP2_uc002vav.2_Missense_Mutation_p.S740G|NRP2_uc002vax.2_Missense_Mutation_p.S740G|NRP2_uc002vay.2_Missense_Mutation_p.S740G NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 740 Extracellular (Potential).|MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CAGCCAGGAGAGCAAGTTGCT 0.677 NA OREG0015155 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 69 0 0 0 0 PTPRN 5798 broad.mit.edu 37 2 220162103 220162103 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:220162103C>T uc002vkz.2 - 14 2029 c.1940G>A c.(1939-1941)GGT>GAT p.G647D PTPRN_uc010zlc.1_Missense_Mutation_p.G557D|PTPRN_uc002vla.2_Missense_Mutation_p.G618D NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 647 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CTCCGGTGGACCCTCTGCCCG 0.632 NA 12 71 0 0 0 0 EPHA4 2043 broad.mit.edu 37 2 222429107 222429107 + Missense_Mutation SNP T T G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr2:222429107T>G uc002vmq.2 - 3 209 c.167A>C c.(166-168)GAA>GCA p.E56A EPHA4_uc002vmr.2_Missense_Mutation_p.E56A|EPHA4_uc010zlm.1_5'UTR|EPHA4_uc010zln.1_Missense_Mutation_p.E56A NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 56 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GATACTCACTTCCTCCCACTG 0.403 NA 30 118 0 0 0 0 C20orf79 140856 broad.mit.edu 37 20 18794840 18794840 + Silent SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr20:18794840G>A uc002wrk.2 + 1 471 c.381G>A c.(379-381)AAG>AAA p.K127K uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 127 SCP2. sterol binding skin(3) 3 ACCCGCAGAAGGCTTTCCTTG 0.483 NA 24 82 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26168444 26168444 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr22:26168444G>T uc003abz.1 + 7 2086 c.1836G>T c.(1834-1836)CAG>CAT p.Q612H MYO18B_uc003aca.1_Missense_Mutation_p.Q493H|MYO18B_uc010guy.1_Missense_Mutation_p.Q493H|MYO18B_uc010guz.1_Missense_Mutation_p.Q493H|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.Q125H NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 612 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TTGTCCTCCAGCCCCGGGGGC 0.637 NA 7 37 2.01e-06 2.3e-06 1 0 PES1 23481 broad.mit.edu 37 22 30976074 30976074 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr22:30976074C>T uc003aij.1 - 11 1209 c.1135G>A c.(1135-1137)GAC>AAC p.D379N PES1_uc003aik.1_Missense_Mutation_p.D374N|PES1_uc003ail.1_Missense_Mutation_p.D362N|PES1_uc003aim.1_Missense_Mutation_p.D379N|PES1_uc003ain.1_Missense_Mutation_p.D240N|PES1_uc003aio.1_Missense_Mutation_p.D240N NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 379 Sufficient for interaction with MAP1B (By similarity).|BRCT. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CCAGGCCGGTCGACAATCTGA 0.572 NA 31 129 0 0 0 0 TXN2 25828 broad.mit.edu 37 22 36876729 36876729 + Missense_Mutation SNP T T C rs146269725 by1000genomes TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr22:36876729T>C uc003apk.1 - 2 233 c.156A>G c.(154-156)ATA>ATG p.I52M TXN2_uc003apl.1_RNA NM_012473 NP_036605 Q99757 THIOM_HUMAN thioredoxin 2 precursor 52 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity 0 TCGTGGTGTATATTGTCCGGG 0.547 NA 24 89 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36899181 36899181 + Nonsense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr3:36899181G>A uc003cgj.2 - 3 552 c.250C>T c.(250-252)CAG>TAG p.Q84* NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 634 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GACTTGAGCTGAGATGTGTGA 0.582 NA 23 102 0 0 0 0 ITGA9 3680 broad.mit.edu 37 3 37818922 37818922 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr3:37818922C>T uc003chd.2 + 24 2634 c.2581C>T c.(2581-2583)CCA>TCA p.P861S NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 861 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CCAGAAAAACCCAACTCCCTG 0.413 NA 8 49 0 0 0 0 SCN10A 6336 broad.mit.edu 37 3 38793780 38793780 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr3:38793780G>T uc003ciq.2 - 11 1685 c.1685C>A c.(1684-1686)TCC>TAC p.S562Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 562 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCATGCCTGGAGTCAGGGTT 0.607 NA 24 76 7.08e-08 8.27e-08 1 0 CRYBG3 131544 broad.mit.edu 37 3 97662106 97662106 + Missense_Mutation SNP A A G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr3:97662106A>G uc003drx.2 + 19 3081 c.3017A>G c.(3016-3018)AAT>AGT p.N1006S CRYBG3_uc010hoz.1_RNA|MINA_uc003dry.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsa.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 GTAATTGTAAATCAGCCCCTG 0.308 NA 17 41 0 0 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198588 170198588 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr3:170198588G>T uc003fgz.2 - 7 1799 c.1483C>A c.(1483-1485)CTC>ATC p.L495I CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 495 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TTCCCTATGAGCATCTCATTG 0.498 NA 38 257 2.05e-20 2.47e-20 1 0 SEL1L3 23231 broad.mit.edu 37 4 25783863 25783863 + Splice_Site SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr4:25783863C>T uc003gru.3 - 15 2609 c.2457_splice c.e15+1 p.Q819_splice SEL1L3_uc003grv.2_Splice_Site_p.Q226_splice NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 integral to membrane binding 0 GTCCTACTCACTTGATTCCTT 0.483 NA 34 167 0 0 0 0 TERT 7015 broad.mit.edu 37 5 1294259 1294259 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:1294259G>A uc003jcb.1 - 2 800 c.742C>T c.(742-744)CGG>TGG p.R248W TERT_uc003jca.1_Missense_Mutation_p.R248W|TERT_uc003jcc.1_Missense_Mutation_p.R248W|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 248 Linker. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACGGGCGTCCGCTCCGGCTCA 0.736 NA TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 3 8 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461594 5461594 + Missense_Mutation SNP A A T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:5461594A>T uc003jdm.3 + 13 2369 c.2147A>T c.(2146-2148)AAT>ATT p.N716I NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 716 ovary(1)|central_nervous_system(1) 2 TCTAATTTTAATGATCAGAAG 0.398 NA 22 36 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13807734 13807734 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:13807734T>A uc003jfd.2 - 47 7895 c.7853A>T c.(7852-7854)AAT>ATT p.N2618I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2618 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGAAGAAAAATTCAGACTCTT 0.388 NA Kartagener_syndrome 7 24 0 0 0 0 ANKH 56172 broad.mit.edu 37 5 14716935 14716935 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:14716935C>T uc003jfm.3 - 9 1352 c.1021G>A c.(1021-1023)GTG>ATG p.V341M ANKH_uc003jfl.3_Missense_Mutation_p.V54M NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 341 Helical; (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 CAAAACATCACGAAACAGAGC 0.453 NA 4 33 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24511576 24511576 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:24511576T>A uc003jgr.1 - 6 1194 c.862A>T c.(862-864)ATT>TTT p.I288F CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 288 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACACTTCCAATGGCTGTGCCA 0.343 NA HNSCC(23;0.051) 38 72 0 0 0 0 AQPEP 206338 broad.mit.edu 37 5 115298653 115298653 + Silent SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:115298653G>A uc003kro.2 + 1 503 c.339G>A c.(337-339)CCG>CCA p.P113P AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 113 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 AGCTGTGGCCGCAGCTGAGGC 0.701 NA 6 79 0 0 0 0 PDE6A 5145 broad.mit.edu 37 5 149265901 149265901 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:149265901C>T uc003lrg.3 - 14 1885 c.1765G>A c.(1765-1767)GCC>ACC p.A589T NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 589 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATGGCCAAGGCCTCTAGGTCC 0.537 NA 10 38 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150930202 150930202 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:150930202C>T uc003lue.3 - 7 4540 c.4527G>A c.(4525-4527)GTG>GTA p.V1509V GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1509 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAATTTTCCCACCGTTACCA 0.522 NA 16 80 0 0 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178580593 178580593 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr5:178580593C>T uc003mjw.2 - 9 1414 c.1414G>A c.(1414-1416)GCC>ACC p.A472T ADAMTS2_uc011dgm.1_Missense_Mutation_p.A472T NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 472 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CAGTCGTGGGCGAAGGGGTCA 0.657 NA 5 20 0 0 0 0 HMGN4 10473 broad.mit.edu 37 6 26545528 26545528 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr6:26545528C>T uc003nig.2 + 2 332 c.94C>T c.(94-96)CCA>TCA p.P32S NM_006353 NP_006344 O00479 HMGN4_HUMAN high mobility group nucleosomal binding domain 32 chromatin|nucleus DNA binding 0 GTCTGCTAAACCAGCTCCTCC 0.502 NA 15 48 0 0 0 0 GLCCI1 113263 broad.mit.edu 37 7 8110681 8110681 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr7:8110681G>T uc003srk.2 + 6 1656 c.1097G>T c.(1096-1098)TGT>TTT p.C366F NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 366 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CATTCACCCTGTGTCTCCCCT 0.512 NA 68 167 2.48e-43 3.02e-43 1 0 NPC1L1 29881 broad.mit.edu 37 7 44560609 44560609 + Missense_Mutation SNP T T C TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr7:44560609T>C uc003tlb.2 - 13 3118 c.3062A>G c.(3061-3063)AAC>AGC p.N1021S NPC1L1_uc003tlc.2_Missense_Mutation_p.N1021S|NPC1L1_uc011kbw.1_Missense_Mutation_p.N975S|NPC1L1_uc003tla.2_Missense_Mutation_p.N24S NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1021 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) ACATTTGATGTTGGGCCGGTC 0.547 NA 50 264 0 0 0 0 PION 54103 broad.mit.edu 37 7 76984548 76984548 + Silent SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr7:76984548C>A uc003ugf.2 - 16 1399 c.1320G>T c.(1318-1320)GCG>GCT p.A440A PION_uc003ugg.1_Silent_p.A225A NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 440 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 CCAGGAACTGCGCACCTTGAC 0.473 NA 13 75 5.51e-06 6.24e-06 1 0 CYP51A1 1595 broad.mit.edu 37 7 91756928 91756928 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr7:91756928C>T uc003ulm.3 - 4 648 c.486G>A c.(484-486)AAG>AAA p.K162K CYP51A1_uc011khn.1_Silent_p.K57K|CYP51A1_uc003uln.3_Silent_p.K99K NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 156 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TTAACATTTTCTTCTGCTCCA 0.303 NA 4 53 0 0 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129679338 129679338 + Silent SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr7:129679338C>T uc003vpi.2 - 4 486 c.459G>A c.(457-459)GAG>GAA p.E153E ZC3HC1_uc003vph.2_Silent_p.E40E|ZC3HC1_uc010lma.2_Silent_p.E40E NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 153 C3HC-type. cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) AACAGAACTTCTCATGGGCAG 0.388 NA 5 60 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154672633 154672633 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr7:154672633G>A uc003wlk.2 + 21 2243 c.2114G>A c.(2113-2115)CGC>CAC p.R705H DPP6_uc003wli.2_Missense_Mutation_p.R641H|DPP6_uc003wlm.2_Missense_Mutation_p.R643H|DPP6_uc011kvq.1_Missense_Mutation_p.R598H NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 705 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GACAGGACGCGCGTGGCCGTG 0.552 NA 8 68 0 0 0 0 LONRF1 91694 broad.mit.edu 37 8 12594431 12594431 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr8:12594431T>A uc003wwd.1 - 5 1395 c.1332A>T c.(1330-1332)AGA>AGT p.R444S LONRF1_uc011kxv.1_Missense_Mutation_p.R44S|LONRF1_uc010lsp.1_Missense_Mutation_p.R44S NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 444 proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) TCAGCTTATTTCTTCCATCTT 0.308 NA 9 28 0 0 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68151121 68151121 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr8:68151121C>T uc003xxo.1 - 21 3377 c.2987G>A c.(2986-2988)AGA>AAA p.R996K ARFGEF1_uc003xxl.1_Missense_Mutation_p.R450K|ARFGEF1_uc003xxn.1_5'UTR NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 996 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATATGCATCTCTCTCCAGCTA 0.358 NA 16 66 0 0 0 0 MMP16 4325 broad.mit.edu 37 8 89180109 89180109 + Silent SNP T T A rs144277355 TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr8:89180109T>A uc003yeb.3 - 4 780 c.498A>T c.(496-498)ACA>ACT p.T166T MMP16_uc003yec.2_Silent_p.T166T NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 166 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CTTCTTCAAATGTCAGAGGAG 0.423 NA 9 79 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 105161040 105161040 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr8:105161040C>T uc003yls.2 + 23 3593 c.3352C>T c.(3352-3354)CGG>TGG p.R1118W RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R1107W|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1157 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGTCTGTCACGGAAAAGTCG 0.463 NA HNSCC(12;0.0054) 20 104 0 0 0 0 PSIP1 11168 broad.mit.edu 37 9 15465561 15465561 + Missense_Mutation SNP C C G TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr9:15465561C>G uc003zlv.3 - 16 1880 c.1550G>C c.(1549-1551)AGA>ACA p.R517T PSIP1_uc003zlw.3_Missense_Mutation_p.R517T|SNAPC3_uc003zlu.2_RNA NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 517 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) TTCAGTCTCTCTCTCTTCACT 0.363 NA 24 148 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr9:21971000C>A uc003zpk.2 - 2 570 c.358G>T c.(358-360)GAG>TAG p.E120* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 120 ANK 4. E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGGCCCAGCTCCTCAGCCAGG 0.726 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 31 1.87e-06 2.15e-06 1 0 ZNF658 26149 broad.mit.edu 37 9 40773300 40773300 + Missense_Mutation SNP C C T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr9:40773300C>T uc004abs.2 - 5 2127 c.1975G>A c.(1975-1977)GAA>AAA p.E659K ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.E659K NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 659 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCATTACATTCATAGGGTTTC 0.418 NA 70 266 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412213 139412213 + Missense_Mutation SNP A A T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr9:139412213A>T uc004chz.2 - 8 1432 c.1432T>A c.(1432-1434)TGC>AGC p.C478S NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 478 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCGGGCATGCAGATGCACTGG 0.677 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 10 70 0 0 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911937 100911937 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chrX:100911937G>A uc004eid.2 - 3 993 c.638C>T c.(637-639)TCG>TTG p.S213L ARMCX2_uc004eie.3_Missense_Mutation_p.S213L|ARMCX2_uc004eif.3_Missense_Mutation_p.S213L|ARMCX2_uc004eig.3_Missense_Mutation_p.S213L|ARMCX2_uc010nnt.2_Missense_Mutation_p.S213L NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 213 Ala-rich. integral to membrane binding ovary(6) 6 CTCGGTAGGCGATGCCACCCC 0.647 NA 8 54 0 0 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128895151 128895151 + Missense_Mutation SNP G G A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chrX:128895151G>A uc004eut.1 + 17 1746 c.1502G>A c.(1501-1503)CGA>CAA p.R501Q NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 501 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 CTTCCAGGGCGAATGGTGGAG 0.547 NA 6 48 0 0 0 0 ATP11C 286410 broad.mit.edu 37 X 138864754 138864754 + Missense_Mutation SNP T T A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chrX:138864754T>A uc004faz.2 - 18 2012 c.1913A>T c.(1912-1914)GAT>GTT p.D638V ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.D638V NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 638 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TGTCTCAATATCATCGAAAAC 0.338 NA 15 84 0 0 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639239 149639239 + Missense_Mutation SNP G G T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chrX:149639239G>T uc004fee.1 + 3 1470 c.1394G>T c.(1393-1395)AGC>ATC p.S465I MAMLD1_uc011mxt.1_Missense_Mutation_p.S427I|MAMLD1_uc011mxu.1_Missense_Mutation_p.S440I|MAMLD1_uc011mxv.1_Missense_Mutation_p.S440I|MAMLD1_uc011mxw.1_Missense_Mutation_p.S392I NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 465 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGCTCTCTAGCCCAGGCTTG 0.517 NA 18 183 2.49e-13 2.96e-13 1 0 GAB3 139716 broad.mit.edu 37 X 153924265 153924265 + Missense_Mutation SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chrX:153924265C>A uc004fmj.1 - 8 1502 c.1454G>T c.(1453-1455)AGA>ATA p.R485I GAB3_uc004fmk.1_Missense_Mutation_p.R486I|GAB3_uc010nve.1_Missense_Mutation_p.R486I|GAB3_uc004fml.1_Missense_Mutation_p.R105I NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 485 ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AATACCATTTCTTTCTGGAGA 0.373 NA 14 78 3.35e-16 4.03e-16 1 0 IL9R 3581 broad.mit.edu 37 X 155227436 155227436 + Silent SNP C C A TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chrX:155227436C>A uc004fnv.1 + 1 191 c.12C>A c.(10-12)GGC>GGA p.G4G IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.Q10K NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 4 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGGACTGGGCAGATGCATCT 0.542 NA 10 81 1.59e-06 1.83e-06 1 0 TCHH 7062 broad.mit.edu 37 1 152081483 152081495 + Frame_Shift_Del DEL GCTCCTGGCAGCG GCTCCTGGCAGCG - TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr1:152081483_152081495delGCTCCTGGCAGCG uc001ezp.2 - 2 4198_4210 c.4198_4210delCGCTGCCAGGAGC c.(4198-4212)CGCTGCCAGGAGCGCfs p.R1400fs TCHH_uc009wne.1_Frame_Shift_Del_p.R1400fs NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1400_1404 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding p.R1400P(1) 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) TGTTGCTCGCGCTCCTGGCAGCGCAGCTGCTGT 0.577 NA 17 95 --- --- --- --- NA NA NA NA ADPGK 83440 broad.mit.edu 37 15 73044826 73044827 + Frame_Shift_Ins INS - - T TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr15:73044826_73044827insT uc002avg.3 - 7 1443_1444 c.1349_1350insA c.(1348-1350)AAGfs p.K450fs ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 450 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 CTACTACTGGCTTGTTTGGGTT 0.49 NA 7 145 --- --- --- --- NA NA NA NA SYT5 6861 broad.mit.edu 37 19 55689729 55689729 + Frame_Shift_Del DEL G G - TCGA-CN-4736-01A-01D-1434-08 TCGA-CN-4736-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 788337f5-722c-45d6-8ca4-8037c489cb64 1723fc6d-c346-4dba-a04c-4dad42afee1e g.chr19:55689729delG uc002qjm.1 - 2 1147 c.87delC c.(85-87)CCCfs p.P29fs SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Frame_Shift_Del_p.P29fs|SYT5_uc002qjo.1_Frame_Shift_Del_p.P29fs NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 29 Helical; (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCAGGGCCCAGGGGGGCACTG 0.602 NA 2 4 --- --- --- --- NA NA NA NA