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 ABCA13 154664 broad.mit.edu 37 7 48431693 48431693 + Missense_Mutation SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr7:48431693G>A ENST00000435803.1 + 38 11854 c.11830G>A c.(11830-11832)Gcg>Acg p.A3944T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3944 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTCCATAAAGGCGCCTCAGTG 0.527000 5 35 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 26997913 26997913 + Missense_Mutation SNP C C G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr22:26997913C>G ENST00000215939.2 - 5 635 c.505G>C c.(505-507)Gac>Cac p.D169H NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 169 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 GGTGCGTCGTCCCCCTGGATC 0.607000 19 20 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 4 379 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98928440 98928440 + Missense_Mutation SNP C C T TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr2:98928440C>T ENST00000477737.1 + 27 3884 c.3680C>T c.(3679-3681)tCc>tTc p.S1227F VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1227 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCGGACGGCTCCTCCCACGGC 0.642000 5 5 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408700 2408700 + Missense_Mutation SNP C C T TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chrX:2408700C>T ENST00000381223.4 - 2 264 c.61G>A c.(61-63)Gcc>Acc p.A21T ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 21 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTGCTCTTGGCGCGGGGGTGG 0.582000 4 172 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142054337 142054337 + Missense_Mutation SNP T T C TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr3:142054337T>C ENST00000264951.4 - 34 4009 c.3892A>G c.(3892-3894)Aag>Gag p.K1298E XRN1_ENST00000392981.2_Missense_Mutation_p.K1298E NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1298 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TTAGGACTCTTACACTCTTCT 0.313000 37 31 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160276973 160276973 + Missense_Mutation SNP C C A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr1:160276973C>A ENST00000241704.7 - 14 1511 c.1282G>T c.(1282-1284)Gtc>Ttc p.V428F COPA_ENST00000368069.3_Missense_Mutation_p.V428F NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 428 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGATCTAGGACAGCAAACCGA 0.493000 4 128 1 1 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61512558 61512558 + Missense_Mutation SNP G G T TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr20:61512558G>T ENST00000266070.4 - 16 5075 c.4750C>A c.(4750-4752)Cgt>Agt p.R1584S DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1584 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGGGCACCACGTGCCGAGAGC 0.706000 20 18 0.000175454 0.000189491 1 1 0 HNRNPM 4670 broad.mit.edu 37 19 8551959 8551959 + Splice_Site SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr19:8551959G>A ENST00000348943.3 + 16 2144 c.1912_splice c.e16+1 p.G638_splice HNRNPM_ENST00000325495.4_Splice_Site_p.G677_splice NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 677 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 CAACGAGTGCGGTAAGTGTTG 0.527000 4 94 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457676 15457676 + Missense_Mutation SNP A A G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr16:15457676A>G ENST00000360151.4 - 8 892 c.893T>C c.(892-894)cTa>cCa p.L298P NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 CGCTGAGGGTAGAGCTGAGGG 0.562000 4 54 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70205425 70205425 + Missense_Mutation SNP C C A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr18:70205425C>A ENST00000269503.4 - 5 1434 c.661G>T c.(661-663)Gtg>Ttg p.V221L CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L|CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L|CBLN2_ENST00000583651.1_5'UTR NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 221 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) AGAGGAAACACCAAGAAGCCC 0.512000 6 50 8.12818e-05 9.14421e-05 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 34 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 4 45 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269476 37269476 + Missense_Mutation SNP C C G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr13:37269476C>G ENST00000315190.3 + 2 707 c.261C>G c.(259-261)ttC>ttG p.F87L NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 87 integral to membrane GAAGTTCTTTCACCAATTTGG 0.453000 10 50 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10359164 10359164 + Missense_Mutation SNP G G A TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr17:10359164G>A ENST00000255381.2 - 18 2133 c.2023C>T c.(2023-2025)Cgg>Tgg p.R675W CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 675 Actin-binding (By similarity).|Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ATGATGCACCGCACAAAGTGG 0.433000 3 46 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47570852 47570852 + Splice_Site SNP A A G TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr4:47570852A>G ENST00000273859.3 + 16 3122 c.e16-1 NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TCTTGTTTCAAGGATGCCTGT 0.413000 23 3 0 0 1 0 0 CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr6:42897358_42897360delTGC ENST00000372836.4 + 1 421_423 c.50_52delTGC c.(49-54)ttg>t p.LL23del CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 23 innate immune response endoplasmic reticulum p.L25delL(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.695 2 4 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 4 3 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 7 22 --- --- --- --- KIF26A 26153 broad.mit.edu 37 14 104645060 104645061 + Frame_Shift_Del DEL CC CC - TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chr14:104645060_104645061delCC ENST00000315264.7 + 12 5245_5246 c.4867_4868delCC c.(4867-4869)cfs p.P1623fs KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P1762fs Q9ULI4 KI26A_HUMAN kinesin family member 26A 1762 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCTTCAGCGGCCCCGCCCCACC 0.703 2 4 --- --- --- --- SYN1 6853 broad.mit.edu 37 X 47435571 47435571 + Frame_Shift_Del DEL C C - TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chrX:47435571delC ENST00000295987.7 - 9 1241 c.1117delG c.(1117-1119)aafs p.E373fs SYN1_ENST00000340666.4_Frame_Shift_Del_p.E373fs NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 373 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 TGTAGCGCTTCCACTGCGCAG 0.562 2 4 --- --- --- --- SUV39H1 6839 broad.mit.edu 37 X 48558633 48558633 + Frame_Shift_Del DEL C C - TCGA-WB-A81J-01A-11D-A35I-08 TCGA-WB-A81J-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22ed7749-5296-4f46-9157-751a90d444e7 804cb805-7bd2-4cea-b17e-69f3a2dd0709 g.chrX:48558633delC ENST00000376687.3 + 3 507 c.317delC c.(316-318)acfs p.T106fs SUV39H1_ENST00000337852.6_Frame_Shift_Del_p.T117fs|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Frame_Shift_Del_p.D43fs NM_003173.2 NP_003164.1 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 (Drosophila) 106 cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 CGGTCAAAGACCCCCCGGCAC 0.627 2 4 --- --- --- ---