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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ALPK1 80216 broad.mit.edu 37 4 113303581 113303581 + Missense_Mutation SNP T T A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr4:113303581T>A ENST00000458497.1 + 4 428 c.149T>A c.(148-150)cTg>cAg p.L50Q ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q|ALPK1_ENST00000504176.2_Intron NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 50 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTAAGGACCCTGATCCAGGAG 0.478000 3 58 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86308796 86308796 + Missense_Mutation SNP T T A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr2:86308796T>A ENST00000263857.6 - 8 1229 c.851A>T c.(850-852)gAt>gTt p.D284V POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 284 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ACCATCATCATCCATTCCCGA 0.403000 14 61 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 3 8 0 0 1 0 0 TFAM 7019 broad.mit.edu 37 10 60146034 60146034 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr10:60146034A>G ENST00000487519.1 + 2 682 c.156A>G c.(154-156)aaA>aaG p.K52K TFAM_ENST00000373895.3_Silent_p.K52K|TFAM_ENST00000373899.3_3'UTR NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 52 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 GTCCAAAGAAACCTGTAAGTT 0.363000 4 116 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 20005098 20005098 + Silent SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr1:20005098C>T ENST00000289753.1 + 2 1220 c.753C>T c.(751-753)gaC>gaT p.D251D NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 251 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) AGTCTGCTGACAGCAGGCGTC 0.627000 17 51 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33358928 33358928 + Silent SNP T T C TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr15:33358928T>C ENST00000334528.9 - 1 1157 c.1158A>G c.(1156-1158)ccA>ccG p.P386P FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.P386P NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 483 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCTGGGTTTGTGGTACTCCAG 0.592000 47 57 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69457054 69457054 + Missense_Mutation SNP G G C TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chrX:69457054G>C ENST00000374521.3 + 4 457 c.416G>C c.(415-417)tGg>tCg p.W139S AWAT1_ENST00000480702.1_3'UTR NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 139 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 ACGCTGTCCTGGTTCTTCAAG 0.537000 3 16 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 41 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37455268 37455268 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr2:37455268A>G ENST00000234170.5 - 2 1213 c.1068T>C c.(1066-1068)gaT>gaC p.D356D NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 356 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTACTAATGTATCATGACTTA 0.403000 34 90 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62400986 62400986 + Splice_Site SNP C C G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:62400986C>G ENST00000346178.4 - 7 642 c.626_splice c.e7-1 p.R209_splice GANAB_ENST00000540933.1_Splice_Site_p.S90_splice|GANAB_ENST00000356638.3_Splice_Site_p.S187_splice|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Splice_Site_p.R95_splice NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 187 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TTGATCCTTGCCTGGAAGGTA 0.607000 18 35 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84205889 84205889 + Silent SNP A A G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr9:84205889A>G ENST00000376499.3 - 16 2724 c.1660T>C c.(1660-1662)Ttg>Ctg p.L554L NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 554 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 CAAATGGACAAAGTACTGGCT 0.547000 17 117 0 0 1 0 0 SLC29A3 55315 broad.mit.edu 37 10 73111447 73111447 + Missense_Mutation SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr10:73111447G>A ENST00000373189.5 + 4 564 c.512G>A c.(511-513)tGc>tAc p.C171Y SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 171 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 ACCATTGTCTGCATGGTGATC 0.547000 4 81 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66102456 66102456 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:66102456C>T ENST00000311320.4 - 6 940 c.814G>A c.(814-816)Ggg>Agg p.G272R RIN1_ENST00000530056.1_Missense_Mutation_p.G167R|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R|RP11-867G23.12_ENST00000526655.1_RNA NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 272 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 GGGACTGCCCCTGGCAGCACG 0.667000 5 37 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68084697 68084697 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr8:68084697C>T ENST00000262210.5 + 23 2891 c.2860C>T c.(2860-2862)Cgg>Tgg p.R954W CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 989 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GGCTAGACATCGGTTGCAAGC 0.388000 4 62 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114514513 114514513 + Silent SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr1:114514513C>T ENST00000369558.1 + 15 3313 c.3081C>T c.(3079-3081)acC>acT p.T1027T HIPK1_ENST00000406344.1_Silent_p.T633T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000369559.4_Silent_p.T1027T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000340480.4_Silent_p.T653T Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1027 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTGTATCACCCCCACAGGGT 0.517000 41 42 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009599 9009599 + Silent SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr19:9009599G>A ENST00000397910.4 - 39 39330 c.39127C>T c.(39127-39129)Ctg>Ttg p.L13043L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13045 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACCCTGCAGGACCCTCTCT 0.552000 12 149 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392730 89392730 + RNA SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:89392730G>A ENST00000532352.1 + 0 553 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTGGCAGGGGCCAAAGGAGT 0.438000 3 29 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47918530 47918530 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr21:47918530C>T ENST00000318711.7 + 5 622 c.439C>T c.(439-441)Cgg>Tgg p.R147W DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000417564.2_Missense_Mutation_p.R147W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R147W NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 147 multicellular organismal development nucleus catalytic activity|transcription factor binding p.R147R(2)|p.R83R(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGGCTCTTTACGGCGACCCGG 0.587000 4 153 0 0 1 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917393 89917393 + Missense_Mutation SNP C C T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr12:89917393C>T ENST00000548729.1 - 3 1227 c.925G>A c.(925-927)Gga>Aga p.G309R POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G312R|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.G140R NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GCAAACAGTCCTCCAGCCATG 0.468000 8 125 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172601 7172601 + Missense_Mutation SNP G G A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr12:7172601G>A ENST00000406697.1 + 9 1343 c.715G>A c.(715-717)Gtt>Att p.V239I C1S_ENST00000328916.3_Missense_Mutation_p.V239I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I|C1S_ENST00000402681.3_Missense_Mutation_p.V72I P09871 C1S_HUMAN complement component 1, s subcomponent 239 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.V239F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGACAGTTTAGTTGTGCGTGA 0.453000 10 19 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98533274 98533274 + Missense_Mutation SNP G G A rs140553884 by1000genomes TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr7:98533274G>A ENST00000359863.4 + 28 4296 c.4087G>A c.(4087-4089)Gta>Ata p.V1363I TRRAP_ENST00000446306.3_Missense_Mutation_p.V1362I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1363 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCGTCACTCGTACCTTTACG 0.378000 4 95 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12301949 12301949 + Missense_Mutation SNP C C G TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr12:12301949C>G ENST00000261349.4 - 14 3209 c.3133G>C c.(3133-3135)Ggg>Cgg p.G1045R LRP6_ENST00000543091.1_Missense_Mutation_p.G1045R NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1045 Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) ACTGATCTCCCATCTAATCTT 0.463000 74 97 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113266945 113266945 + Splice_Site SNP G G T TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:113266945G>T ENST00000303941.3 + 5 932 c.e5+1 NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) TGCTTTCTAGGTGCTTATCCA 0.612000 4 105 0.150653 0.150653 1 1 0 MST1 4485 broad.mit.edu 37 3 49722300 49722300 + Missense_Mutation SNP C C A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr3:49722300C>A ENST00000449682.2 - 15 2001 c.1640G>T c.(1639-1641)gGc>gTc p.G547V AC099668.5_ENST00000563780.1_RNA NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 533 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TACCTCATAGCCCGTGAGAGG 0.582000 4 49 0.0293803 0.0304296 1 1 0 FBP2 8789 broad.mit.edu 37 9 97355969 97355969 + Frame_Shift_Del DEL G G - TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr9:97355969delG ENST00000375337.3 - 1 106 c.40delC c.(40-42)tgfs p.L14fs NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 14 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) TAGCGGGTCAGGGTGAGCATG 0.552 39 68 --- --- --- --- MBL1P 8512 broad.mit.edu 37 10 81680655 81680656 + RNA INS - - A TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr10:81680655_81680656insA ENST00000480805.1 + 0 722_723 NR_002724.2 AGCTTTTGGGGAAAAAAAAAAG 0.545 4 7 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 4 7 --- --- --- --- KRTAP10-4 386672 broad.mit.edu 37 21 45993755 45993769 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - TCGA-QR-A70T-01A-11D-A35D-08 TCGA-QR-A70T-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7c81c93-90ef-4266-9fc0-d5ff6416b139 5683aefc-0242-47e7-a2ca-9fdfa234f0f3 g.chr21:45993755_45993769delCTGCTGCGCCCCCAG ENST00000400374.3 + 1 150_164 c.120_134delCTGCTGCGCCCCCAG c.(118-135)ccc>cc p.PCCAPS40del TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 40 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 9 18 --- --- --- ---