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 NLRP4 147945 broad.mit.edu 37 19 56369263 56369263 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr19:56369263G>A ENST00000301295.6 + 3 926 c.504G>A c.(502-504)ctG>ctA p.L168L NLRP4_ENST00000346986.5_Silent_p.L168L|NLRP4_ENST00000587891.1_Silent_p.L93L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 168 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGATGAAGCTGATGATGGCCT 0.502000 28 58 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45574145 45574145 + Missense_Mutation SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr22:45574145A>G ENST00000347635.3 + 5 833 c.367A>G c.(367-369)Acc>Gcc p.T123A NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.T95A|NUP50_ENST00000396096.2_Missense_Mutation_p.T95A NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 123 5 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding p.T123A(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TGGCCCTACCACCTTGGTTGA 0.403000 5 108 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112686863 112686863 + Silent SNP A A T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr2:112686863A>T ENST00000295408.4 + 2 485 c.228A>T c.(226-228)ggA>ggT p.G76G MERTK_ENST00000421804.2_Silent_p.G76G|MERTK_ENST00000409780.1_Intron Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 76 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CACATACAGGAAACGTAGCCA 0.507000 18 16 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138651823 138651823 + Missense_Mutation SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr5:138651823C>T ENST00000394800.2 + 9 1624 c.1075C>T c.(1075-1077)Cca>Tca p.P359S MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000361059.2_Missense_Mutation_p.P359S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S|MATR3_ENST00000394805.3_Missense_Mutation_p.P359S|MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S P43243 MATR3_HUMAN matrin 3 359 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCTGGGACCTCCACCTCCCTC 0.413000 26 69 0 0 1 0 0 KLHDC3 116138 broad.mit.edu 37 6 42987098 42987098 + Missense_Mutation SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr6:42987098A>G ENST00000326974.4 + 10 1271 c.1076A>G c.(1075-1077)gAt>gGt p.D359G KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G|KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 359 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TTGCCTCATGATATCAGGTAC 0.498000 76 84 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72937759 72937759 + Silent SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr17:72937759C>T ENST00000328801.4 + 2 345 c.345C>T c.(343-345)gcC>gcT p.A115A NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 115 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) ACAAGGTGGCCGTCACTCTGG 0.602000 22 35 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74075788 74075788 + Missense_Mutation SNP C C G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr17:74075788C>G ENST00000334586.5 + 3 311 c.228C>G c.(226-228)atC>atG p.I76M ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 76 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 CCCAGGACATCCTGCGATACA 0.582000 4 45 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61486850 61486850 + Missense_Mutation SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr2:61486850A>G ENST00000398571.2 - 44 5916 c.5840T>C c.(5839-5841)tTa>tCa p.L1947S NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1947 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACATACCATTAAATATGTAAA 0.408000 25 29 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62571398 62571398 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr20:62571398G>A ENST00000369908.5 - 15 1832 c.1533C>T c.(1531-1533)ggC>ggT p.G511G UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.G526G|UCKL1_ENST00000369892.3_Silent_p.G526G NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 526 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AGTAGCGGTCGCCAAAGTTCC 0.682000 3 27 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103495314 103495314 + Silent SNP G G T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chrX:103495314G>T ENST00000372588.4 - 4 899 c.816C>A c.(814-816)ccC>ccA p.P272P NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 272 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CAGGCGCcatgggtggcatag 0.687000 54 58 6.56871e-35 7.20439e-35 1 1 0 REPIN1 29803 broad.mit.edu 37 7 150066802 150066802 + Translation_Start_Site SNP T T A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr7:150066802T>A ENST00000479668.1 + 2 90 c.2T>A c.(1-3)aTg>aAg p.M1K REPIN1_ENST00000466559.1_Intron|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000397281.2_5'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000444957.1_Intron Q9BWE0 REPI1_HUMAN replication initiator 1 0 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AGCTCTGCCATGGGGATAGGG 0.587000 30 21 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409427 105409427 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr14:105409427G>A ENST00000333244.5 - 7 12480 c.12361C>T c.(12361-12363)Ctg>Ttg p.L4121L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4121 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGTCGGCCAGGGACAGGTCC 0.587000 6 520 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547476 228547476 + Missense_Mutation SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr1:228547476G>A ENST00000284548.11 + 81 18957 c.18883G>A c.(18883-18885)Ggc>Agc p.G6295S OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7118 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCAGAACCAGGCCAGAAGCC 0.706000 13 8 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 4 23 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884502 205884502 + Missense_Mutation SNP T T G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr1:205884502T>G ENST00000367135.3 - 21 2472 c.2359A>C c.(2359-2361)Acc>Ccc p.T787P SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 787 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCGGTCAGGGTCTCTGCGTGA 0.592000 34 95 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38639331 38639331 + Silent SNP C C T TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr3:38639331C>T ENST00000413689.1 - 14 2344 c.2151G>A c.(2149-2151)ccG>ccA p.P717P SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P|SCN5A_ENST00000333535.4_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000455624.2_Silent_p.P717P NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 717 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGTCAGTAAACGGGTCCATGA 0.547000 29 12 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 6 116 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2046698 2046698 + Silent SNP G G A TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr8:2046698G>A ENST00000262113.4 + 19 2466 c.2325G>A c.(2323-2325)ttG>ttA p.L775L MYOM2_ENST00000523438.1_Silent_p.L200L NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 775 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGGACGGCTTGACGGAAGGCT 0.507000 16 24 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr16:90162462A>G ENST00000567960.1 + 0 1198 TUBB8P7_ENST00000564451.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 5 106 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601677 13601677 + Missense_Mutation SNP G G C TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr4:13601677G>C ENST00000040738.5 - 10 6982 c.6847C>G c.(6847-6849)Cca>Gca p.P2283A NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2283 DNA binding TCTTCCGCTGGTGTGACTGAG 0.562000 14 13 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818089 77818090 + In_Frame_Ins INS - - GCT rs140725545 by1000genomes TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr4:77818089_77818090insGCT ENST00000334306.2 - 1 912_913 c.913_914insAGC c.(913-915)cac>AGCcac p.304_305insS NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 304 Poly-Gln. CTCTCGAGTGCGCTGCTGCTGC 0.713 8 10 --- --- --- --- NBN 4683 broad.mit.edu 37 8 90982714 90982714 + Frame_Shift_Del DEL T T - TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr8:90982714delT ENST00000265433.3 - 7 928 c.774delA c.(772-774)gafs p.E259fs NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 259 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATTATGTTCTTCTTCATTCT 0.378 Homologous recombination 27 83 --- --- --- --- KCNMA1 3778 broad.mit.edu 37 10 78729786 78729786 + Frame_Shift_Del DEL T T - TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr10:78729786delT ENST00000286627.5 - 19 3084 c.2132delA c.(2131-2133)agfs p.K711fs KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.K769fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.K773fs|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.K772fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Frame_Shift_Del_p.K769fs NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 706 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity p.K711fs*17(1) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) ATTCCGTTGCTTTTTTTTTGG 0.502 7 83 --- --- --- --- LINC01514 101927396 broad.mit.edu 37 10 102941524 102941524 + RNA DEL G G - TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr10:102941524delG ENST00000434189.2 + 0 545 TTATCTTTGAGGGTTTTGGAA 0.502 2 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25483318 25483319 + RNA INS - - G rs140580374 by1000genomes TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr15:25483318_25483319insG ENST00000453082.2 + 0 1979 NR_003343.1 GCGCATCTTGTGGGGGGGCAAT 0.579 7 10 --- --- --- --- CLEC17A 388512 broad.mit.edu 37 19 14694175 14694176 + In_Frame_Ins INS - - GGA rs34295949 TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chr19:14694175_14694176insGGA ENST00000547437.1 + 2 127_128 c.50_51insGGA c.(49-51)aga>aGGAga p.17_17R>RR CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 17 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GAAGGGACCATGGAGGAGGAGG 0.579 12 13 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e830e5f5-a441-4daf-9431-8bf7f8e604e4 cbc0a7de-9e67-408c-874c-f6827bcc3b14 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 6 12 --- --- --- ---