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 ATRX 546 broad.mit.edu 37 X 76856021 76856021 + Missense_Mutation SNP T T C rs45439799 byFrequency TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chrX:76856021T>C ENST00000373344.5 - 23 5793 c.5579A>G c.(5578-5580)aAt>aGt p.N1860S ATRX_ENST00000395603.3_Missense_Mutation_p.N1822S|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1860 N -> S (rare polymorphism; dbSNP:rs45439799). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACCTTCACTATTATTGCCCAC 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 6 119 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201467063 201467063 + Missense_Mutation SNP T T C TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr2:201467063T>C ENST00000374700.2 + 6 734 c.493T>C c.(493-495)Tgt>Cgt p.C165R NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 165 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CAAGACTTTCTGTAAAGTAAG 0.448000 26 67 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 45 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113563207 113563207 + Missense_Mutation SNP C C G TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:113563207C>G ENST00000416899.2 + 13 2651 c.2525C>G c.(2524-2526)aCc>aGc p.T842S MUSK_ENST00000189978.5_Missense_Mutation_p.T850S|MUSK_ENST00000374448.4_Missense_Mutation_p.T850S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 850 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCCAGTTTCACCAGTATTCAC 0.507000 8 26 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512212 248512212 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:248512212G>A ENST00000317861.1 + 1 136 c.136G>A c.(136-138)Gtc>Atc p.V46I NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CATTGTGACCGTCACCACCTG 0.438000 11 131 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66207904 66207904 + Nonsense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr15:66207904G>A ENST00000409699.2 - 19 2549 c.2377C>T c.(2377-2379)Cag>Tag p.Q793* MEGF11_ENST00000288745.3_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000360698.4_Silent_p.V869V|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.Q793* A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 793 EGF-like 14. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CATAGCTGCTGACACCCATAG 0.537000 5 24 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 61 0.150653 0.150653 1 1 0 CASKIN2 57513 broad.mit.edu 37 17 73501926 73501926 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:73501926G>A ENST00000321617.3 - 9 1397 c.811C>T c.(811-813)Cgg>Tgg p.R271W CASKIN2_ENST00000581870.1_Missense_Mutation_p.R271W|CASKIN2_ENST00000433559.2_Missense_Mutation_p.R189W NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 271 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGATTTCCCGGCTGGCCTGG 0.622000 3 37 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130279165 130279165 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:130279165G>A ENST00000373312.3 - 8 1157 c.944C>T c.(943-945)tCc>tTc p.S315F FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.S302F NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 315 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GTGCTCCTTGGAGGTGATAAT 0.597000 78 286 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91733329 91733329 + Missense_Mutation SNP T T C TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:91733329T>C ENST00000370425.3 - 35 3954 c.3856A>G c.(3856-3858)Act>Gct p.T1286A HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.T518A|HFM1_ENST00000370424.3_Missense_Mutation_p.T965A NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1286 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCAGTATCAGTTGAAAAGCTA 0.303000 3 36 0 0 1 0 0 BECN1 8678 broad.mit.edu 37 17 40967972 40967972 + Missense_Mutation SNP C C A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:40967972C>A ENST00000361523.4 - 8 916 c.784G>T c.(784-786)Gat>Tat p.D262Y BECN1_ENST00000438274.3_Missense_Mutation_p.D186Y|BECN1_ENST00000590099.1_Missense_Mutation_p.D262Y NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 262 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TTCAGCTTATCCAGCTGCGTC 0.458000 8 168 0.000274275 0.0002862 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 60 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 46 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10518462 10518462 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr11:10518462G>A ENST00000444303.2 + 9 1529 c.1057G>A c.(1057-1059)Gag>Aag p.E353K AMPD3_ENST00000396554.3_Missense_Mutation_p.E521K NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 512 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AGATCATCGAGAGCTTCACCT 0.512000 7 159 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 5 13 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52616490 52616490 + Missense_Mutation SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr6:52616490C>T ENST00000493422.1 - 6 586 c.431G>A c.(430-432)gGa>gAa p.G144E NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 144 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GTAGTCTTGTCCGTGGCTCTT 0.537000 23 115 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4164528 4164528 + Missense_Mutation SNP A A C TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr16:4164528A>C ENST00000294016.3 - 2 1454 c.916T>G c.(916-918)Tcc>Gcc p.S306A NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 306 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTGCTCCTGGACCTCACCTGG 0.612000 14 84 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 8 69 0 0 1 0 0 RP11-1277A3.2 0 broad.mit.edu 37 5 177059130 177059130 + RNA SNP T T G rs6886539 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr5:177059130T>G ENST00000515045.1 - 0 798 NR_026921.1 CTTGAGGTGGTTGAGTTAGAG 0.542000 3 37 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96069101 96069101 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:96069101G>A ENST00000297954.4 + 27 6368 c.6368G>A c.(6367-6369)aGt>aAt p.S2123N WNK2_ENST00000395477.2_Missense_Mutation_p.S2086N|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S1735N|WNK2_ENST00000427277.2_Missense_Mutation_p.S1698N Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2123 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GAACACAGCAGTAGTAATTAT 0.567000 7 200 0 0 1 0 0 GPR173 54328 broad.mit.edu 37 X 53106066 53106066 + Missense_Mutation SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chrX:53106066C>T ENST00000332582.4 + 2 754 c.263C>T c.(262-264)tCa>tTa p.S88L NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 88 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 CACGGCTCTTCATGGACCTTC 0.577000 4 74 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95556981 95556981 + Silent SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr10:95556981C>T ENST00000371418.4 + 8 1355 c.1095C>T c.(1093-1095)aaC>aaT p.N365N LGI1_ENST00000542308.1_Silent_p.N317N|LGI1_ENST00000371413.3_Intron NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 365 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GGAACGGAAACGGATTCTACT 0.408000 29 60 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61759173 61759173 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:61759173G>A ENST00000361357.3 + 8 961 c.643G>A c.(643-645)Gag>Aag p.E215K MAP3K3_ENST00000577395.1_Missense_Mutation_p.E184K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.E184K NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 184 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTATGTTCCTGAGCGGCAGCA 0.602000 14 110 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38810844 38810844 + Missense_Mutation SNP A A G TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr19:38810844A>G ENST00000263372.3 + 1 361 c.254A>G c.(253-255)aAc>aGc p.N85S NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 85 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) GGGTCCGCCAACGCCTCGGAC 0.706000 4 29 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 20 67 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666455 20666455 + Missense_Mutation SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr14:20666455C>T ENST00000357366.3 + 1 961 c.961C>T c.(961-963)Cca>Tca p.P321S NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) tgttgttaccccactgcttaa 0.398000 35 102 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39801184 39801184 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr20:39801184G>A ENST00000373272.2 + 26 3434 c.3029G>A c.(3028-3030)cGc>cAc p.R1010H PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010H|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.R1010H NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 1010 PI-PLC Y-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity p.R1010L(2) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CAGCTCTCCCGCATCTACCCC 0.542000 3 37 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704157 131704157 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr2:131704157G>A ENST00000409359.1 + 4 4142 c.2944G>A c.(2944-2946)Gct>Act p.A982T ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.A126T|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A126T|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A126T Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 126 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CTCCCAGAGTGCTCCAACGGG 0.532000 6 120 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 8 262 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741481 + RNA DEL AA AA - rs140144338 TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr3:84741480_84741481delAA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAAA 0.386 2 4 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 20 97 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 14 3 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 8 55 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 5 8 --- --- --- --- AC004702.2 0 broad.mit.edu 37 17 20225136 20225136 + RNA DEL A A - rs112185038 TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:20225136delA ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA TTACTATTGCAAAAGTGTTGG 0.453 14 9 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 49001922 49001922 + Frame_Shift_Del DEL A A - TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr19:49001922delA ENST00000600059.1 - 11 2631 c.2404delT c.(2404-2406)ccfs p.S802fs LMTK3_ENST00000270238.3_Frame_Shift_Del_p.S831fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CCCTCTGGGGAAAAAGGGGTC 0.766 2 4 --- --- --- ---