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 SRRT 51593 broad.mit.edu 37 7 100482086 100482086 + Missense_Mutation SNP G G C TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr7:100482086G>C uc003uwy.2 + 6 1122 c.855G>C c.(853-855)aaG>aaC p.K285N SRRT_uc010lhl.1_Missense_Mutation_p.K285N|SRRT_uc003uxa.2_Missense_Mutation_p.K285N|SRRT_uc003uwz.2_Missense_Mutation_p.K285N NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA. 285 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGCCCAGCAAGAAAGAAGAAG 0.592000 3 32 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31600702 31600702 + Silent SNP C C T TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr20:31600702C>T uc002wyj.3 + 3 491 c.297C>T c.(295-297)ttC>ttT p.F99F NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 99 extracellular region lipid binding p.F99L(1) ATTTTACTTTCAAGGTCTTTC 0.557000 6 178 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67701334 67701334 + Missense_Mutation SNP C C G TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr16:67701334C>G uc002ety.3 + 1 395 c.238C>G c.(238-240)Ccc>Gcc p.P80A C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.3_Non-coding_Transcript NM_001012984 NP_001013002 Q6ZW13 CP086_HUMAN Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA. 80 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGAGGAGCGGCCCAAGCCGCA 0.667000 3 19 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116715 53116715 + Missense_Mutation SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr19:53116715G>A uc002pzu.4 - 1 2347 c.1103C>T c.(1102-1104)gCc>gTc p.A368V ZNF83_uc002pzv.4_Missense_Mutation_p.A368V|ZNF83_uc010eps.3_Missense_Mutation_p.A340V|ZNF83_uc010ept.3_Missense_Mutation_p.A368V|ZNF83_uc010epu.3_Missense_Mutation_p.A368V|ZNF83_uc010epw.3_Missense_Mutation_p.A368V|ZNF83_uc010epv.3_Missense_Mutation_p.A368V|ZNF83_uc010epx.3_Missense_Mutation_p.A340V|ZNF83_uc010epy.3_Missense_Mutation_p.A368V|ZNF83_uc010epz.3_Missense_Mutation_p.A340V|ZNF83_uc010eqb.2_Missense_Mutation_p.A340V|ZNF83_uc021uyx.1_Missense_Mutation_p.A368V NM_018300 NP_060770 P51522 ZNF83_HUMAN Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA. 368 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TTTCTCACCGGCATGAATTAT 0.403000 4 182 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23445885 23445885 + Missense_Mutation SNP T T C TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr14:23445885T>C uc001whz.3 - 2 1518 c.1145A>G c.(1144-1146)aAt>aGt p.N382S AJUBA_uc001why.3_5'UTR NM_032876 NP_116265 Q96IF1 JUB_HUMAN Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA. 382 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CACAGAGCCATTGACACTGTA 0.512000 3 139 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357319 38357319 + Missense_Mutation SNP G G T TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr13:38357319G>T uc010abx.3 - 1 387 c.152C>A c.(151-153)tCc>tAc p.S51Y TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S51Y|TRPC4_uc001uws.3_Missense_Mutation_p.S51Y|TRPC4_uc010tey.2_Missense_Mutation_p.S51Y|TRPC4_uc010abw.3_Missense_Mutation_p.S51Y|TRPC4_uc010aby.3_Missense_Mutation_p.S51Y NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 51 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTCCTCTAGGGATTTCTTGAC 0.388000 6 229 0 0 1 0 0 CCM2 83605 broad.mit.edu 37 7 45067320 45067320 + Missense_Mutation SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr7:45067320G>A uc003tms.3 + 0 88 c.17G>A c.(16-18)cGg>cAg p.R6Q CCM2_uc003tmn.3_Intron|CCM2_uc003tmo.3_Intron|CCM2_uc003tmp.3_Intron|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.R6Q|CCM2_uc011kcc.2_Missense_Mutation_p.R6Q NM_001029835 NP_001025006 Q9BSQ5 CCM2_HUMAN Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA. 0 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGTAGCTGTCGGCAGAGGAGG 0.433000 16 67 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71010063 71010063 + Missense_Mutation SNP G G A rs148336562 by1000genomes TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr10:71010063G>A uc001jpf.4 + 10 1721 c.1588G>A c.(1588-1590)Gcc>Acc p.A530T HKDC1_uc010qje.2_Missense_Mutation_p.A393T NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 530 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AAAGTTTCTCGCCCTGGATCT 0.547000 10 277 0 0 1 0 0 ALKBH1 8846 broad.mit.edu 37 14 78142152 78142152 + Missense_Mutation SNP A A G TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr14:78142152A>G uc001xuc.1 - 4 596 c.587T>C c.(586-588)cTg>cCg p.L196P NM_006020 NP_006011 Q13686 ALKB1_HUMAN Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA. 196 DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GAGGAAACCCAGGTCAGAAGG 0.448000 3 91 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56561809 56561809 + Missense_Mutation SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr19:56561809G>A uc002qmj.3 + 11 2983 c.2983G>A c.(2983-2985)Gct>Act p.A995T NLRP5_uc002qmi.3_Missense_Mutation_p.A976T NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 995 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCTGGACACGGCTGGCTGTGG 0.547000 3 48 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3452590 3452590 + Missense_Mutation SNP C C T TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr19:3452590C>T uc010xhi.2 + 7 1265 c.1195C>T c.(1195-1197)Cat>Tat p.H399Y NFIC_uc002lxo.3_Missense_Mutation_p.H390Y|NFIC_uc010xhh.2_Missense_Mutation_p.H390Y|NFIC_uc010xhj.2_Missense_Mutation_p.H399Y|NFIC_uc002lxp.3_Missense_Mutation_p.H399Y NM_001245002 NP_001231931 P08651 NFIC_HUMAN Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA. 399 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CTACCCACCTCATCTCAACCC 0.657000 6 253 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109268557 109268557 + Missense_Mutation SNP T T G TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr1:109268557T>G uc001dvx.3 + 5 1042 c.1042T>G c.(1042-1044)Ttt>Gtt p.F348V FNDC7_uc010ova.2_Missense_Mutation_p.F115V NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 349 Fibronectin type-III 4. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTCACTTATTTTATTAGTGT 0.398000 9 198 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20491997 20491997 + Missense_Mutation SNP G G A rs141811117 by1000genomes TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr16:20491997G>A uc010bwe.3 + 11 1623 c.1384G>A c.(1384-1386)Gca>Aca p.A462T ACSM2A_uc010vax.1_Missense_Mutation_p.A383T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A462T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A462T|ACSM2A_uc010vay.2_Missense_Mutation_p.A383T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A92T NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 462 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.R461R(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TATGGGACGGGCAAATGATAT 0.498000 4 160 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37576551 37576551 + Missense_Mutation SNP C C G TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr20:37576551C>G uc002xjg.3 + 2 815 c.774C>G c.(772-774)atC>atG p.I258M NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA. 228 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) CAGGAAATATCTACTATGCAA 0.428000 5 161 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92430277 92430277 + Missense_Mutation SNP G G C TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr1:92430277G>C uc010osz.2 + 2 635 c.286G>C c.(286-288)Gaa>Caa p.E96Q BRDT_uc001dol.4_Missense_Mutation_p.E96Q|BRDT_uc001dok.4_Missense_Mutation_p.E96Q|BRDT_uc009wdf.3_Missense_Mutation_p.E23Q|BRDT_uc010otb.2_Intron|BRDT_uc010ota.2_Intron|BRDT_uc001dom.4_Missense_Mutation_p.E96Q NM_001242806 NP_001229735 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 4, mRNA. 96 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGAATGTATAGAAGACTTCAA 0.289000 4 77 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2740235 2740235 + Silent SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr7:2740235G>A uc003smr.1 + 1 511 c.150G>A c.(148-150)ccG>ccA p.P50P AMZ1_uc003sms.1_Silent_p.P50P|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA. 50 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CCTACAACCCGCAGAGGACGC 0.662000 7 253 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87407024 87407024 + Missense_Mutation SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr10:87407024G>A uc001kdl.1 - 12 2229 c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R281W|AX746544_uc001kdm.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 710 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGATGGTCCGCCAGAGTTCA 0.572000 Multiple Myeloma(13;0.14) 6 434 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30715587 30715587 + Missense_Mutation SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr16:30715587G>A uc002dze.1 + 3 642 c.257G>A c.(256-258)gGc>gAc p.G86D SRCAP_uc021tgn.1_Missense_Mutation_p.G86D|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 86 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCTAACAAGGGCCCGAAGTGG 0.537000 9 203 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59510196 59510196 + Missense_Mutation SNP C C T TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr15:59510196C>T uc002aga.3 - 9 1373 c.1001G>A c.(1000-1002)gGc>gAc p.G334D NM_004998 NP_004989 Q12965 MYO1E_HUMAN Homo sapiens myosin IE (MYO1E), mRNA. 334 Myosin head-like. actin filament-based movement myosin complex ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity p.G333R(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TTCGGATTTGCCTCCCCACTT 0.527000 8 194 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a 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 34 54 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45588 45589 + Missense_Mutation DNP GC GC CA TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr2:45588_45589GC>CA uc010yim.2 - 0 1000_1001 c.797_798GC>TG c.(796-798)ggc>gTG p.G266V NM_001077710 NP_001071178 Q1W6H9 F110C_HUMAN Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA. 266 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) CCTCGTCGTCGCCGCCGCTGTG 0.663000 3 7 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62396401 62396401 + Missense_Mutation SNP G G A TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr11:62396401G>A uc001nua.3 - 17 2119 c.2086C>T c.(2086-2088)Cgg>Tgg p.R696W GANAB_uc001nub.3_Missense_Mutation_p.R674W|GANAB_uc001nuc.3_Missense_Mutation_p.R577W|GANAB_uc010rma.2_Missense_Mutation_p.R582W|GANAB_uc010rmb.2_Missense_Mutation_p.R560W NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 674 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding Golgi apparatus|endoplasmic reticulum lumen|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GCATGTGCCCGGAAGAATGGC 0.542000 4 225 0 0 1 0 0 CACFD1 11094 broad.mit.edu 37 9 136333684 136333684 + Splice_Site DEL G G - TCGA-DJ-A13X-01A-11D-A10S-08 TCGA-DJ-A13X-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95a61a26-f8f9-49b6-8964-4fb915243cb9 1612cb7e-0dfa-41f7-90f8-1ce300ff100a g.chr9:136333684delG uc011mdh.1 + 6 656 c.554_splice c.e6-1 p.G185_splice CACFD1_uc011mdg.1_Splice_Site_p.K143_splice|CACFD1_uc011mdi.1_Splice_Site_p.G143_splice|CACFD1_uc004cec.2_Splice_Site_p.K101_splice|CACFD1_uc010nan.2_Splice_Site NM_001242369 NP_001229298 Q9UGQ2 FLOWR_HUMAN Homo sapiens chromosome 9 open reading frame 7 (C9orf7), transcript variant 3, mRNA. 0 integral to membrane TCTCTCCCCAGGGGCGATGCG 0.667 2 4 --- --- --- ---