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 OR51E2 81285 broad.mit.edu 37 11 4703767 4703767 + Missense_Mutation SNP A A G TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr11:4703767A>G uc001lzk.2 - 1 419 c.175T>C c.(175-177)Tac>Cac p.Y59H OR51E2_uc021qcr.1_Missense_Mutation_p.Y59H NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGAAAGAGGTACATCGGAGCG 0.512000 7 86 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35742769 35742769 + Silent SNP A A G TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr14:35742769A>G uc001wsy.1 + 7 2109 c.1749A>G c.(1747-1749)acA>acG p.T583T KIAA0391_uc010tps.1_Silent_p.T488T|KIAA0391_uc001wsz.1_Silent_p.T567T|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Silent_p.T211T NM_014672 NP_055487 O15091 MRRP3_HUMAN Homo sapiens KIAA0391 (KIAA0391), mRNA. 583 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) ACCAAAAGACATAGAGATTCT 0.453000 4 41 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90785312 90785312 + Splice_Site SNP A A G TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr15:90785312A>G uc002bpc.3 + 4 1351 c.1172_splice c.e4+1 NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA. glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity TTCTGGATGTAtttatgttct 0.502000 11 38 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634427 32634427 + Missense_Mutation SNP C C A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr9:32634427C>A uc003zrg.1 - 0 1241 c.1151G>T c.(1150-1152)gGc>gTc p.G384V AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 384 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAGTTTGAAGCCATAGTCAAA 0.463000 35 146 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94158128 94158128 + Missense_Mutation SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr14:94158128G>A uc001ybv.1 + 44 7041 c.6958G>A c.(6958-6960)Gcg>Acg p.A2320T UNC79_uc001ybs.1_Missense_Mutation_p.A2298T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2475 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCTCTTCCACGCGTTCATCTT 0.527000 9 93 0 0 1 0 0 ARCN1 372 broad.mit.edu 37 11 118455206 118455206 + Missense_Mutation SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr11:118455206C>T uc009zag.3 + 5 990 c.788C>T c.(787-789)cCc>cTc p.P263L ARCN1_uc001ptq.3_Missense_Mutation_p.P222L|ARCN1_uc010ryg.2_Missense_Mutation_p.P134L NM_001142281 NP_001135753 P48444 COPD_HUMAN Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA. 222 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|clathrin adaptor complex|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCTTCAGGCCCCAGCAAGGCT 0.393000 5 29 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64587880 64587880 + Silent SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr12:64587880G>A uc001srw.4 - 2 1139 c.1080C>T c.(1078-1080)caC>caT p.H360H NM_152440 NP_689653 Q96MD2 CL066_HUMAN Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA. 360 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 CATTGGGCCAGTGCATGACTG 0.522000 9 112 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31138963 31138963 + Missense_Mutation SNP T T C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr10:31138963T>C uc010qdz.2 - 6 806 c.371A>G c.(370-372)tAt>tGt p.Y124C ZNF438_uc001ivn.3_Missense_Mutation_p.Y75C|ZNF438_uc010qdy.2_Missense_Mutation_p.Y114C|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Missense_Mutation_p.Y124C|ZNF438_uc001ivp.4_Missense_Mutation_p.Y114C|ZNF438_uc010qea.2_Missense_Mutation_p.Y124C|ZNF438_uc010qeb.2_Missense_Mutation_p.Y124C|ZNF438_uc010qec.1_Intron NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) AGGGGGTTGATATCTAGGAAT 0.448000 7 100 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30776280 30776280 + Silent SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr22:30776280G>A uc003ahp.3 - 5 855 c.855C>T c.(853-855)ctC>ctT p.L285L RNF215_uc011akw.2_Silent_p.L190L NM_001017981 NP_001017981 Q9Y6U7 RN215_HUMAN Homo sapiens ring finger protein 215 (RNF215), mRNA. 285 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CCTGGCCTCCGAGCTCCCGCT 0.687000 9 47 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524826 112524826 + Missense_Mutation SNP T T C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr1:112524826T>C uc001ebu.1 - 1 1003 c.523A>G c.(523-525)Aac>Gac p.N175D KCND3_uc001ebv.1_Missense_Mutation_p.N175D NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 175 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GTGTGGGGGTTCTCGAAGGCC 0.627000 9 44 0 0 1 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377236 84377236 + Silent SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr4:84377236C>T uc003hor.4 + 0 119 c.6C>T c.(4-6)gcC>gcT p.A2A HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank NM_016067 NP_057151 Q9Y3D5 RT18C_HUMAN Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA. 2 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) GAACCATGGCCGCTGTGGTTG 0.562000 37 169 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707544 50707544 + Missense_Mutation SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr16:50707544G>A uc002egk.2 - 3 897 c.724C>T c.(724-726)Cgc>Tgc p.R242C SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA. 242 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 TCGGCGGGGCGGTCGAGGTCG 0.756000 5 18 0 0 1 0 0 TMEM203 94107 broad.mit.edu 37 9 140099754 140099754 + Missense_Mutation SNP T T C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr9:140099754T>C uc004clv.3 - 0 337 c.113A>G c.(112-114)gAt>gGt p.D38G NDOR1_uc004clx.3_5'Flank|NDOR1_uc004clw.3_5'Flank|NDOR1_uc011mes.2_5'Flank|NDOR1_uc004cly.3_5'Flank NM_053045 NP_444273 Q969S6 TM203_HUMAN Homo sapiens transmembrane protein 203 (TMEM203), mRNA. 38 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GACCAGGCCATCCACACGCAG 0.637000 3 20 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34808710 34808710 + Missense_Mutation SNP C C A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr5:34808710C>A uc003jis.3 + 8 949 c.410C>A c.(409-411)gCt>gAt p.A137D RAI14_uc003jir.3_Missense_Mutation_p.A134D|RAI14_uc010iur.3_Missense_Mutation_p.A134D|RAI14_uc011coj.2_Missense_Mutation_p.A134D|RAI14_uc010ius.1_Missense_Mutation_p.A63D|RAI14_uc003jit.3_Missense_Mutation_p.A134D|RAI14_uc011cok.2_Missense_Mutation_p.A126D NM_001145525 NP_001138997 Q9P0K7 RAI14_HUMAN Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA. 134 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TGCCTTCAAGCTGTGCAGATT 0.478000 6 37 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43259762 43259762 + Missense_Mutation SNP G G C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr21:43259762G>C uc002yzq.1 - 13 2050 c.1939C>G c.(1939-1941)Cta>Gta p.L647V PRDM15_uc002yzo.3_Missense_Mutation_p.L318V|PRDM15_uc002yzp.3_Missense_Mutation_p.L318V|PRDM15_uc002yzr.1_Missense_Mutation_p.L318V NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 ACGATGACTAGAGGCTGCTCA 0.617000 12 253 0 0 1 0 0 VMP1 81671 broad.mit.edu 37 17 57915689 57915689 + Missense_Mutation SNP G G C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr17:57915689G>C uc002ixu.4 + 10 1281 c.1008G>C c.(1006-1008)aaG>aaC p.K336N VMP1_uc010wog.2_Missense_Mutation_p.K144N|VMP1_uc010woh.2_Missense_Mutation_p.K280N|VMP1_uc010woi.2_Missense_Mutation_p.K239N|VMP1_uc010woj.2_Missense_Mutation_p.K202N|MIR21_uc002ixv.3_5'Flank NM_030938 NP_112200 Q96GC9 VMP1_HUMAN Homo sapiens vacuole membrane protein 1 (VMP1), mRNA. 336 autophagy|cell adhesion ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 CTCTGCAGAAGCCATTTCAGG 0.493000 10 52 0 0 1 0 0 ZCCHC10 54819 broad.mit.edu 37 5 132342584 132342584 + Missense_Mutation SNP G G C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr5:132342584G>C uc003kyh.3 - 2 147 c.136C>G c.(136-138)Cag>Gag p.Q46E ZCCHC10_uc003kyg.3_Missense_Mutation_p.Q24E|ZCCHC10_uc011cxl.2_Missense_Mutation_p.Q24E NM_017665 NP_060135 Q8TBK6 ZCH10_HUMAN Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA. 46 nucleic acid binding|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGCATTTCTGACATCTTACA 0.338000 6 17 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48431804 48431804 + Nonsense_Mutation SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr17:48431804C>T uc002iqo.3 + 2 773 c.664C>T c.(664-666)Caa>Taa p.Q222* XYLT2_uc010dbo.3_Non-coding_Transcript NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN Homo sapiens xylosyltransferase II (XYLT2), mRNA. 222 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GGATGAGAGCCAAGCCCAGCA 0.657000 7 40 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453140 140453163 + In_Frame_Ins INS TAGCTAGACCAAAATCACCTATTT TAGCTAGACCAAAATCACCTATTT TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT rs121913368 TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr7:140453140_140453163TAGCTAGACCAAAATCACCTATTT>TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT uc003vwc.4 - 14 1833_1856 c.1772_1795AAATAGGTGATTTTGGTCTAGCTA>AAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTA c.(1771-1797)aaaataggtgattttggtctagctaca>aAAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTAca p.598_599insKIGDFGLA NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 598 Protein kinase. 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.D594G(35)|p.L597R(30)|p.L597V(24)|p.L597S(22)|p.L597Q(21)|p.A598_T599insV(13)|p.D594N(9)|p.F595L(8)|p.A598V(8)|p.T599_V600insT(7)|p.L597L(6)|p.G596R(6)|p.T599I(5)|p.I592M(4)|p.F595S(3)|p.D594V(3)|p.T599_V600insTT(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.T599_V600>IAL(2)|p.L597_A598insT(2)|p.T599_R603>I(2)|p.T599T(2)|p.A598T(2)|p.D594D(1)|p.K591R(1)|p.T599_V600insDFGLAT(1)|p.G596fs*2(1)|p.T599_V600insV(1)|p.G593D(1)|p.D594_T599del(1)|p.G593S(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) GATTTCACTGTAGCTAGACCAAAATCACCTATTTTTACTGTGAG 0.366 G596R(NCIH508_LARGE_INTESTINE) 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 13 42 --- --- --- ---