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 SPEN 23013 broad.mit.edu 37 1 16257698 16257698 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr1:16257698G>C uc001axk.1 + 11 5167 c.4963G>C c.(4963-4965)GAG>CAG p.E1655Q SPEN_uc010obp.1_Missense_Mutation_p.E1614Q NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1655 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATCAGCACTAGAGAAGACCAC 0.493 NA 9 146 0 0 0 0 BEND7 222389 broad.mit.edu 37 10 13481367 13481367 + Silent SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr10:13481367G>C uc001imm.2 - 9 1509 c.1212C>G c.(1210-1212)CTC>CTG p.L404L BEND7_uc001iml.2_RNA NM_152751 NP_689964 Q8N7W2 BEND7_HUMAN BEN domain containing 7 isoform 1 455 protein binding ovary(1)|breast(1) 2 TCAGGAGCACGAGATGCTGCT 0.493 NA 4 38 0 0 0 0 OR5D14 219436 broad.mit.edu 37 11 55563470 55563470 + Missense_Mutation SNP G G T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr11:55563470G>T uc010rim.1 + 1 439 c.439G>T c.(439-441)GTG>TTG p.V147L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TGCCCTGCTGGTGGCTGGGTC 0.507 NA 6 65 3.6e-05 3.88e-05 1 0 OR5D18 219438 broad.mit.edu 37 11 55587255 55587255 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr11:55587255C>G uc010rin.1 + 1 150 c.150C>G c.(148-150)ATC>ATG p.I50M NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TTGTGATCATCAAAATCAACC 0.453 NA 8 106 0 0 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68703725 68703725 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr11:68703725G>A uc001ook.1 + 13 1879 c.1777G>A c.(1777-1779)GAG>AAG p.E593K IGHMBP2_uc001ool.1_Missense_Mutation_p.E217K|IGHMBP2_uc001oom.1_Missense_Mutation_p.E171K NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 593 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTTTCTTGCTGAGGACCGGAG 0.532 NA 14 99 0 0 0 0 GYS2 2998 broad.mit.edu 37 12 21728963 21728963 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:21728963C>T uc001rfb.2 - 3 587 c.332G>A c.(331-333)GGA>GAA p.G111E NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 111 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 ATAAGGACTTCCTTCTATCAG 0.433 NA 4 54 0 0 0 0 LARP4 113251 broad.mit.edu 37 12 50869453 50869453 + Missense_Mutation SNP G G T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:50869453G>T uc001rwp.1 + 16 2125 c.1981G>T c.(1981-1983)GTT>TTT p.V661F LARP4_uc001rwo.1_Missense_Mutation_p.V667F|LARP4_uc001rwq.1_Missense_Mutation_p.V590F|LARP4_uc001rwr.1_Missense_Mutation_p.V590F|LARP4_uc001rws.1_Missense_Mutation_p.V660F|LARP4_uc009zlr.1_Missense_Mutation_p.V460F|LARP4_uc001rwt.1_Missense_Mutation_p.V252F NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 661 nucleotide binding|RNA binding ovary(1) 1 TGAGAACTCCGTTGAGAAACC 0.488 NA 8 110 5.18e-06 5.72e-06 1 0 IRAK3 11213 broad.mit.edu 37 12 66641854 66641854 + Nonsense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:66641854C>G uc001sth.2 + 12 1796 c.1694C>G c.(1693-1695)TCA>TGA p.S565* IRAK3_uc010ssy.1_Nonsense_Mutation_p.S504* NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 565 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) GATCCTTCTTCAGAAGCTCCA 0.423 NA 5 84 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67801363 67801363 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr13:67801363C>T uc001vik.2 - 2 1902 c.1210G>A c.(1210-1212)GAA>AAA p.E404K PCDH9_uc001vil.2_Missense_Mutation_p.E404K|PCDH9_uc010thl.1_Missense_Mutation_p.E404K|PCDH9_uc001vin.3_Missense_Mutation_p.E404K NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 404 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACCTCTCTTTCAATAAAACAG 0.378 NA 5 70 0 0 0 0 MESDC1 59274 broad.mit.edu 37 15 81295191 81295191 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr15:81295191C>T uc002bfz.2 + 1 1897 c.579C>T c.(577-579)TTC>TTT p.F193F NM_022566 NP_072088 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 193 0 ACCTCAAGTTCCTGACGGACG 0.682 NA 3 10 0 0 0 0 FSD2 123722 broad.mit.edu 37 15 83447594 83447594 + Silent SNP T T C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr15:83447594T>C uc002bjd.2 - 6 1202 c.1035A>G c.(1033-1035)GCA>GCG p.A345A FSD2_uc010uol.1_Silent_p.A345A|FSD2_uc010uom.1_Silent_p.A345A NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 345 central_nervous_system(1) 1 ACTCAGGCTGTGCAGAGATTT 0.468 NA 3 31 0 0 0 0 ACAN 176 broad.mit.edu 37 15 89395139 89395139 + Missense_Mutation SNP T T C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr15:89395139T>C uc010upo.1 + 11 2515 c.2141T>C c.(2140-2142)GTA>GCA p.V714A ACAN_uc010upp.1_Missense_Mutation_p.V714A|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 714 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCTGTCCCCGTAGAAGAGGAG 0.567 NA 2 10 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17211720 17211720 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr16:17211720C>T uc002dfa.2 - 11 2425 c.2340G>A c.(2338-2340)GTG>GTA p.V780V NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 780 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 AAATGACGGTCACGGTCACAT 0.552 NA 4 44 0 0 0 0 ATP2C2 9914 broad.mit.edu 37 16 84488581 84488581 + Nonsense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr16:84488581C>G uc002fhx.2 + 21 2227 c.2138C>G c.(2137-2139)TCA>TGA p.S713* ATP2C2_uc010chj.2_Nonsense_Mutation_p.S713*|ATP2C2_uc002fhy.2_Nonsense_Mutation_p.S730*|ATP2C2_uc002fhz.2_Nonsense_Mutation_p.S562* NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 713 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 GATGACTTCTCAGCCATCATG 0.552 NA 4 39 0 0 0 0 ANKRD40 91369 broad.mit.edu 37 17 48777098 48777098 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr17:48777098C>T uc002iso.2 - 3 695 c.440G>A c.(439-441)GGC>GAC p.G147D NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 147 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TGTGGAGGGGCCCCCATTCTG 0.587 NA 4 61 0 0 0 0 PNPT1 87178 broad.mit.edu 37 2 55894995 55894995 + Splice_Site SNP A A G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:55894995A>G uc002rzf.2 - 12 1126 c.1073_splice c.e12+1 p.R358_splice PNPT1_uc002rzg.2_Splice_Site NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGGTATGTTTACCTTTTGTAT 0.308 NA 2 11 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179635016 179635016 + Silent SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:179635016C>G uc010zfg.1 - 36 8636 c.8412G>C c.(8410-8412)GTG>GTC p.V2804V TTN_uc010zfh.1_Silent_p.V2758V|TTN_uc010zfi.1_Silent_p.V2758V|TTN_uc010zfj.1_Silent_p.V2758V|TTN_uc002unb.2_Silent_p.V2804V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2804 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) CCAAGGCTGTCACATCCTTTG 0.408 NA 6 69 0 0 0 0 SPP2 6694 broad.mit.edu 37 2 234975872 234975872 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:234975872C>T uc002vvk.1 + 6 589 c.504C>T c.(502-504)CTC>CTT p.L168L SPP2_uc010fyl.1_Silent_p.L88L NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 168 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) TTACAGGTCTCATTTCAGACG 0.393 NA 7 84 0 0 0 0 ALS2CL 259173 broad.mit.edu 37 3 46730899 46730899 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:46730899C>T uc003cqa.1 - 2 222 c.32G>A c.(31-33)CGG>CAG p.R11Q ALS2CL_uc003cqb.1_Missense_Mutation_p.R11Q|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 11 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTCCTCCAGCCGCAGCAGAGC 0.622 NA 3 10 0 0 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:49412905C>G uc003cwu.2 - 2 394 c.118G>C c.(118-120)GAG>CAG p.E40Q RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 40 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438 NA 11 78 0 0 0 0 MCM2 4171 broad.mit.edu 37 3 127335797 127335797 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:127335797G>A uc003ejp.2 + 10 1666 c.1609G>A c.(1609-1611)GAG>AAG p.E537K MCM2_uc011bkm.1_Missense_Mutation_p.E407K|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.E490K NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 537 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CAAGTATATTGAGAAAGTGTC 0.597 NA 6 117 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 5 21 0 0 0 0 SMR3B 10879 broad.mit.edu 37 4 71255552 71255552 + Missense_Mutation SNP C C A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr4:71255552C>A uc011cas.1 + 3 308 c.227C>A c.(226-228)CCT>CAT p.P76H SMR3B_uc003hfh.2_Missense_Mutation_p.P76H NM_006685 NP_006676 P02814 SMR3B_HUMAN submaxillary gland androgen regulated protein 3 76 Poly-Pro.|Pro-rich. extracellular space skin(1) 1 all_hematologic(202;0.196) CCACCACCCCCTCCTCAACCC 0.582 NA 6 89 3.6e-05 3.88e-05 1 0 CDH10 1008 broad.mit.edu 37 5 24487840 24487840 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr5:24487840C>G uc003jgr.1 - 12 2631 c.2299G>C c.(2299-2301)GAA>CAA p.E767Q CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 767 Cytoplasmic (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) GGGCCCCATTCTCGGAGGTAA 0.413 NA HNSCC(23;0.051) 6 118 0 0 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139909243 139909243 + Missense_Mutation SNP G G T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr5:139909243G>T uc003lfs.1 + 29 6836 c.6712G>T c.(6712-6714)GCT>TCT p.A2238S ANKHD1_uc003lfr.2_Missense_Mutation_p.A2238S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.A977S|ANKHD1_uc003lfw.2_Missense_Mutation_p.A876S|ANKHD1_uc010jfl.2_Missense_Mutation_p.A673S|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.A375S NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2238 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACGAGTTGCTACAGATGC 0.507 NA 8 101 1.13e-05 1.24e-05 1 0 NDST1 3340 broad.mit.edu 37 5 149900959 149900959 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr5:149900959C>T uc003lsk.3 + 2 645 c.143C>T c.(142-144)TCG>TTG p.S48L NDST1_uc011dcj.1_Missense_Mutation_p.S48L|NDST1_uc003lsl.2_Missense_Mutation_p.S48L NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 48 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGAGCCCTCGGCGGATGCC 0.652 NA 7 75 0 0 0 0 BAT2 7916 broad.mit.edu 37 6 31598918 31598918 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:31598918G>A uc003nvb.3 + 16 2717 c.2468G>A c.(2467-2469)AGC>AAC p.S823N BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.S823N NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 823 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CTCTTCAGGAGCGAGACTCCT 0.488 NA 9 91 0 0 0 0 BRPF3 27154 broad.mit.edu 37 6 36175192 36175192 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:36175192C>T uc003olv.3 + 4 1932 c.1708C>T c.(1708-1710)CGG>TGG p.R570W BRPF3_uc010jwb.2_Missense_Mutation_p.R570W|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R570W NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 570 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 TGAGCTGATTCGGAAGAGAGA 0.547 NA 4 29 0 0 0 0 COL19A1 1310 broad.mit.edu 37 6 70637839 70637839 + Missense_Mutation SNP T T C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:70637839T>C uc003pfc.1 + 5 422 c.305T>C c.(304-306)GTA>GCA p.V102A COL19A1_uc010kam.1_5'UTR NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 102 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GAGTACTCAGTAGCTGCCATG 0.418 NA 8 85 0 0 0 0 EPB41L2 2037 broad.mit.edu 37 6 131191239 131191239 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:131191239C>G uc003qch.2 - 15 2253 c.2071G>C c.(2071-2073)GAG>CAG p.E691Q EPB41L2_uc003qce.1_Missense_Mutation_p.E69Q|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.E621Q|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.E621Q|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.E88Q NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 691 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TTCTTCTCCTCCACTATATTC 0.393 NA 6 45 0 0 0 0 TAGAP 117289 broad.mit.edu 37 6 159457885 159457885 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:159457885G>A uc003qrz.2 - 10 1502 c.1170C>T c.(1168-1170)AGC>AGT p.S390S TAGAP_uc011eft.1_Silent_p.S327S|TAGAP_uc003qsa.2_Silent_p.S212S NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 390 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTGTCACCCGGCTCTCGAGGC 0.582 NA 4 43 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 3998591 3998591 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:3998591G>C uc003smx.2 + 8 1318 c.1179G>C c.(1177-1179)GAG>GAC p.E393D NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 393 Ig-like C2-type 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTGAGCCCGAGAGTCGGATTT 0.458 NA 7 101 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31683457 31683457 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:31683457G>A uc003tcj.1 + 11 3466 c.2473G>A c.(2473-2475)GAA>AAA p.E825K CCDC129_uc011kad.1_Missense_Mutation_p.E835K|CCDC129_uc003tci.1_Missense_Mutation_p.E676K|CCDC129_uc011kae.1_Missense_Mutation_p.E851K|CCDC129_uc003tck.1_Missense_Mutation_p.E733K NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 825 Cys-rich. 0 CCCTGGCCCTGAACCCTCAGT 0.567 NA 4 54 0 0 0 0 DDC 1644 broad.mit.edu 37 7 50611665 50611665 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:50611665G>A uc003tpf.3 - 2 205 c.119C>T c.(118-120)CCG>CTG p.P40L DDC_uc010kza.2_Missense_Mutation_p.P40L|DDC_uc003tpg.3_Missense_Mutation_p.P40L NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 40 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AGGGATCAGCGGCCGCAGGTA 0.572 NA 12 164 0 0 0 0 ZNF107 51427 broad.mit.edu 37 7 64167909 64167909 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:64167909G>C uc003ttd.2 + 7 2013 c.1227G>C c.(1225-1227)GAG>GAC p.E409D ZNF107_uc003tte.2_Missense_Mutation_p.E409D NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) ATTCTGGAGAGAAACCATACA 0.338 NA 5 30 0 0 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997162 82997162 + Missense_Mutation SNP T T A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:82997162T>A uc003uhy.1 - 17 2534 c.2068A>T c.(2068-2070)AGG>TGG p.R690W NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 690 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) CTGTGATGCCTGTCCTCCTCA 0.478 NA 6 73 0 0 0 0 ZNF394 84124 broad.mit.edu 37 7 99097343 99097343 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:99097343C>T uc003uqs.2 - 1 535 c.374G>A c.(373-375)CGA>CAA p.R125Q ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.R125Q NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 125 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAGTGCTCTCGCACCCAGGC 0.652 NA 10 105 0 0 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140947 143140947 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:143140947G>A uc011ktg.1 + 1 402 c.402G>A c.(400-402)AAG>AAA p.K134K uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 134 Helical; Name=4; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TCTGGCTAAAGCACAAGTTGT 0.478 NA 10 140 0 0 0 0 RAD54B 25788 broad.mit.edu 37 8 95419850 95419850 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr8:95419850C>T uc003ygk.2 - 5 696 c.598G>A c.(598-600)GAT>AAT p.D200N RAD54B_uc010may.1_Missense_Mutation_p.D7N|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CTGAAGTCATCTGGAGAGATT 0.418 NA Direct_reversal_of_damage|Homologous_recombination 4 53 0 0 0 0 SHC3 53358 broad.mit.edu 37 9 91667004 91667004 + Missense_Mutation SNP G G A rs150757692 TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:91667004G>A uc004aqg.2 - 7 1217 c.910C>T c.(910-912)CGG>TGG p.R304W NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 304 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 TGCTTAAACCGGAGCTCAAAG 0.493 NA 4 47 0 0 0 0 ZNF483 158399 broad.mit.edu 37 9 114304152 114304152 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:114304152G>C uc004bff.2 + 6 1161 c.937G>C c.(937-939)GAA>CAA p.E313Q ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 313 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 TAATTTCAAAGAAACTTCAGA 0.378 NA 7 123 0 0 0 0 COL27A1 85301 broad.mit.edu 37 9 117014887 117014887 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:117014887G>A uc011lxl.1 + 26 3048 c.3048G>A c.(3046-3048)ATG>ATA p.M1016I COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1016 Pro-rich.|Collagen-like 7.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 ATCGTGGCATGATGGGACCCC 0.612 NA 9 98 0 0 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642755 129642755 + Silent SNP T T C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:129642755T>C uc004bqm.3 + 2 1162 c.1065T>C c.(1063-1065)AGT>AGC p.S355S NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGAGAGCAGTCCCCGGGAGA 0.542 NA 3 30 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139405640 139405640 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:139405640C>G uc004chz.2 - 16 2551 c.2551G>C c.(2551-2553)GAG>CAG p.E851Q NOTCH1_uc004cia.1_Missense_Mutation_p.E81Q NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 851 Extracellular (Potential).|EGF-like 22. 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) GAGAAGCTCTCATAGTCCTCG 0.677 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 5 45 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139409769 139409769 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:139409769C>T uc004chz.2 - 12 1987 c.1987G>A c.(1987-1989)GAG>AAG p.E663K NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 663 Extracellular (Potential).|EGF-like 17; 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) CAGGCACACTCGTAGCCATCG 0.637 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 5 46 0 0 0 0 MCF2 4168 broad.mit.edu 37 X 138699732 138699732 + Missense_Mutation SNP C C A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chrX:138699732C>A uc004fau.2 - 8 1233 c.939G>T c.(937-939)GAG>GAT p.E313D MCF2_uc004fav.2_Missense_Mutation_p.E313D|MCF2_uc011mwl.1_Missense_Mutation_p.E274D|MCF2_uc010nsh.1_Missense_Mutation_p.E313D|MCF2_uc011mwm.1_Missense_Mutation_p.E274D|MCF2_uc011mwn.1_Missense_Mutation_p.E458D|MCF2_uc004faw.2_Missense_Mutation_p.E373D|MCF2_uc011mwo.1_Missense_Mutation_p.E373D NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 313 Spectrin. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTGCTTTTATCTCATTAACCA 0.393 NA 6 47 0.00198382 0.00211218 1 0 MBD6 114785 broad.mit.edu 37 12 57919453 57919454 + Frame_Shift_Ins INS - - T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:57919453_57919454insT uc001soj.1 + 6 926_927 c.702_703insT c.(700-705)AGATCCfs p.R234fs MBD6_uc001sok.1_Frame_Shift_Ins_p.R101fs|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 234_235 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CTGCCCTCAGATCCAGCCTGGT 0.619 NA 18 154 --- --- --- --- NA NA NA NA RBM12B 389677 broad.mit.edu 37 8 94746334 94746335 + Frame_Shift_Ins INS - - TG TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr8:94746334_94746335insTG uc003yfz.2 - 3 2497_2498 c.2304_2305insCA c.(2302-2307)CCAGAGfs p.P768fs NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 768_769 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CTGAAATGCTCTGGGGGTGGCC 0.673 NA 8 75 --- --- --- --- NA NA NA NA