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 PRKCSH 5589 broad.mit.edu 37 19 11559445 11559445 + Splice_Site SNP G G T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr19:11559445G>T uc010xlz.2 + 14 1622 c.1286_splice c.e14+1 p.E429_splice PRKCSH_uc002mrt.3_Splice_Site_p.E422_splice|PRKCSH_uc002mru.3_Splice_Site_p.E419_splice|PRKCSH_uc010dyb.3_Splice_Site_p.E419_splice NM_002743 NP_002734 P14314 GLU2B_HUMAN Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA. 422 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CCACCAACGAGTGCGTCCCAG 0.617000 24 64 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27685202 27685202 + Nonsense_Mutation SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr1:27685202G>A uc001bny.1 - 18 2830 c.2581C>T c.(2581-2583)Cag>Tag p.Q861* MAP3K6_uc009vsw.1_Nonsense_Mutation_p.Q853*|MAP3K6_uc001bnz.1_Nonsense_Mutation_p.Q384* NM_004672 NP_004663 O95382 M3K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA. 861 Protein kinase. activation of JUN kinase activity ATP binding|MAP kinase kinase kinase activity|magnesium ion binding breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGTCTCACCTGAAACATGGCA 0.617000 18 45 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210591549 210591549 + Silent SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr1:210591549C>T uc010psr.2 + 5 844 c.739C>T c.(739-741)Ctg>Ttg p.L247L HHAT_uc009xcx.3_Silent_p.L246L|HHAT_uc010psq.2_Silent_p.L109L|HHAT_uc009xcy.3_Silent_p.L181L|HHAT_uc010pss.2_Silent_p.L201L|HHAT_uc010pst.2_Silent_p.L183L|HHAT_uc001hhz.4_Silent_p.L246L|HHAT_uc021pip.1_Silent_p.L246L|HHAT_uc010psu.2_Silent_p.L181L NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 246 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGTCCTGGCCCTGGGGCTGGG 0.567000 50 165 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126189759 126189759 + Missense_Mutation SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr3:126189759G>A uc003eiv.3 - 3 1303 c.1249C>T c.(1249-1251)Ccg>Tcg p.P417S ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P417S NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA. 417 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) CACTCGAACGGCTTTGTGCCT 0.463000 33 89 0 0 1 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632483 102632483 + Missense_Mutation SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chrX:102632483C>T uc004eki.3 + 2 446 c.64C>T c.(64-66)Cgc>Tgc p.R22C NGFRAP1_uc004ekh.3_Missense_Mutation_p.R12C|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R22C NM_206915 NP_996800 Q00994 BEX3_HUMAN Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA. 22 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding p.D21D(1) NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 AGAGGAAGACCGCCCTTTGGG 0.498000 66 251 0 0 1 0 0 STOML1 9399 broad.mit.edu 37 15 74282792 74282792 + Missense_Mutation SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr15:74282792G>A uc002awe.3 - 1 211 c.140C>T c.(139-141)cCc>cTc p.P47L STOML1_uc002awf.3_Missense_Mutation_p.P47L|STOML1_uc010bje.3_Missense_Mutation_p.P47L|STOML1_uc010uld.2_Missense_Mutation_p.P5L|STOML1_uc002awh.3_Missense_Mutation_p.P47L|STOML1_uc002awg.3_Missense_Mutation_p.P47L NM_004809 NP_004800 Q9UBI4 STML1_HUMAN Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA. 47 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CCAGCTCTGGGGTACATCTGC 0.582000 3 25 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67102297 67102297 + Silent SNP C C A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr17:67102297C>A uc002jhw.1 - 18 2620 c.2445G>T c.(2443-2445)ctG>ctT p.L815L NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 815 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AAGAGTGAGCCAGCTCCATTT 0.413000 17 60 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197060037 197060037 + Silent SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr1:197060037G>A uc001gtu.3 - 22 9836 c.9579C>T c.(9577-9579)cgC>cgT p.R3193R ASPM_uc001gtv.3_Silent_p.R1608R|ASPM_uc001gtw.4_Silent_p.R1041R NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 3193 IQ 38. mitosis cytoplasm|nucleus calmodulin binding p.R3193C(1)|p.R3193L(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GGAGAAAATGGCGCACTGCTT 0.353000 15 86 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104067 53104067 + Missense_Mutation SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr7:53104067C>T uc003tpz.3 + 0 719 c.703C>T c.(703-705)Cct>Tct p.P235S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 235 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CAGGCCAGGGCCTCTGAAGCC 0.642000 19 69 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17742462 17742462 + Silent SNP T T A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chrX:17742462T>A uc011mix.2 + 5 1490 c.1152T>A c.(1150-1152)gtT>gtA p.V384V NHS_uc004cxx.3_Silent_p.V363V|NHS_uc004cxy.3_Silent_p.V207V|NHS_uc004cxz.3_Silent_p.V186V|NHS_uc004cya.3_Silent_p.V86V NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 363 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GCTCTCTGGTTCATTCACAAT 0.423000 40 120 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877450 24877450 + Silent SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr14:24877450C>T uc001wpf.4 + 2 892 c.574C>T c.(574-576)Ctg>Ttg p.L192L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 192 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCTGCTGAGCCTGGTGCGGGA 0.652000 6 15 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32937551 32937551 + Missense_Mutation SNP G G T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr13:32937551G>T uc001uub.1 + 17 8439 c.8212G>T c.(8212-8214)Gct>Tct p.A2738S NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2738 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCCCCTCTTAGCTGTCTTAAA 0.458000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 27 80 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38558091 38558091 + Silent SNP A A G TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr21:38558091A>G uc002ywd.1 + 9 2102 c.2034A>G c.(2032-2034)aaA>aaG p.K678K TTC3_uc002yvz.3_Intron|TTC3_uc002ywa.3_Intron|TTC3_uc002ywb.3_Intron|TTC3_uc010gnf.3_Intron|TTC3_uc002ywc.3_Intron NM_003316 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 1, mRNA. 0 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.I677M(1) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TTAAGCttaaatttattttta 0.279000 9 15 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294460 109294460 + Missense_Mutation SNP G G T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr11:109294460G>T uc010rwb.2 + 1 504 c.101G>T c.(100-102)gGt>gTt p.G34V C11orf87_uc021qqf.1_Missense_Mutation_p.G34V NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA. 34 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGCAACACGGGTGCCCGCGGC 0.672000 12 32 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28963566 28963566 + Missense_Mutation SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr6:28963566G>A uc003nlu.2 - 6 1724 c.1213C>T c.(1213-1215)Cac>Tac p.H405Y ZNF311_uc011dlk.1_Missense_Mutation_p.H313Y|ZNF311_uc003nlv.2_Missense_Mutation_p.H313Y NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN Homo sapiens zinc finger protein 311 (ZNF311), mRNA. 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 ATTCTTATGTGTTTGGTGAGG 0.512000 12 40 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4552537 4552537 + Missense_Mutation SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr19:4552537C>T uc010dud.2 - 9 1148 c.886G>A c.(886-888)Gga>Aga p.G296R SEMA6B_uc010xih.1_Missense_Mutation_p.G296R NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA. 296 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGAGTCTCCGGGTACAGAG 0.652000 9 25 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33282984 33282984 + Silent SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr6:33282984G>A uc003oeb.3 - 1 1862 c.1710C>T c.(1708-1710)ggC>ggT p.G570G TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.G570G|ZBTB22_uc021ywm.1_Silent_p.G570G NM_005453 NP_005444 O15209 ZBT22_HUMAN Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA. 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCCCGACCCCGCCCAGGCGGT 0.687000 18 62 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41075213 41075213 + Missense_Mutation SNP A A C TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chrX:41075213A>C uc004dfb.3 + 34 6026 c.5393A>C c.(5392-5394)aAg>aCg p.K1798T USP9X_uc004dfc.3_Missense_Mutation_p.K1798T NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1798 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATACAACTAAAGCGATTTGAC 0.363000 35 70 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81282072 81282072 + Silent SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr15:81282072G>A uc002bfy.1 - 0 134 c.61C>T c.(61-63)Ctg>Ttg p.L21L MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript NM_015154 NP_055969 Q14696 MESD_HUMAN Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA. 21 Chaperone domain (By similarity). Wnt receptor signaling pathway|mesoderm development|protein folding endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 agcagcagcagcagcagGTCA 0.682000 4 18 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643690 39643690 + Silent SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr17:39643690C>T uc002hwt.3 - 4 900 c.900G>A c.(898-900)gaG>gaA p.E300E NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 300 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) ACTGCAGCTGCTCCGAGCTGG 0.587000 7 34 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12580704 12580704 + Silent SNP T T C TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr8:12580704T>C uc003wwd.1 - 11 2286 c.2223A>G c.(2221-2223)ccA>ccG p.P741P LONRF1_uc011kxv.1_Silent_p.P330P|LONRF1_uc010lsp.1_Silent_p.P341P NM_152271 NP_689484 Q17RB8 LONF1_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA. 741 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) GCTGGTATCGTGGGTCTACAG 0.418000 46 135 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196612456 196612456 + Missense_Mutation SNP A A G TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr3:196612456A>G uc003fwz.4 + 1 653 c.404A>G c.(403-405)aAt>aGt p.N135S SENP5_uc011bty.2_Missense_Mutation_p.N135S NM_152699 NP_689912 Q96HI0 SENP5_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA. 135 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity p.N135H(1) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGAGAGAAAAATCTCTTGAAG 0.443000 21 58 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 65 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36342241 36342241 + Missense_Mutation SNP G G T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr19:36342241G>T uc002oby.3 - 2 476 c.320C>A c.(319-321)gCg>gAg p.A107E NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 107 Ig-like C2-type 1. A -> T (in NPHS1).|A -> V (in NPHS1). cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCATACTCCGCGTCATCGCT 0.642000 10 15 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883967 74883967 + Missense_Mutation SNP G G A TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr15:74883967G>A uc002aye.3 + 6 1433 c.1232G>A c.(1231-1233)aGc>aAc p.S411N ARID3B_uc002ayd.3_Missense_Mutation_p.S411N|ARID3B_uc010bjs.1_Missense_Mutation_p.S116N NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA. 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 ACCTTGGCAAGCCAGCAGGCT 0.617000 8 7 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396762 38396762 + Silent SNP C C T TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr9:38396762C>T uc004aay.3 + 1 1170 c.1017C>T c.(1015-1017)acC>acT p.T339T ALDH1B1_uc022bgy.1_Silent_p.T339T NM_000692 NP_000683 P30837 AL1B1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA. 339 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TCGAGAGAACCGTGGAGAAAG 0.557000 26 42 0 0 1 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86171801 86171801 + Frame_Shift_Del DEL G G - TCGA-EL-A3H5-01A-11D-A202-08 TCGA-EL-A3H5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20eacd64-1c18-4928-bcb8-928e274504c8 56cb03e6-10a4-4498-9ef4-ec579fe18ace g.chr1:86171801delG uc001dlh.3 - 3 1024 c.875delC c.(874-876)tctfs p.S292fs ZNHIT6_uc010osc.2_Frame_Shift_Del_p.S253fs NM_017953 NP_060423 Q9NWK9 BCD1_HUMAN Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA. 292 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 AGCATCTCTAGAAATATGGTC 0.313 23 37 --- --- --- ---