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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SELENBP1	8991	broad.mit.edu	37	1	151338256	151338256	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:151338256G>C	uc001exx.2	-	8	957	c.910C>G	c.(910-912)CCC>GCC	p.P304A	SELENBP1_uc010pcy.1_Missense_Mutation_p.P346A|SELENBP1_uc001exy.2_Missense_Mutation_p.P201A|SELENBP1_uc001exz.2_Missense_Mutation_p.P201A|SELENBP1_uc010pcz.1_Missense_Mutation_p.P242A|SELENBP1_uc009wms.2_Missense_Mutation_p.P140A|SELENBP1_uc009wmt.2_Missense_Mutation_p.P201A|SELENBP1_uc001eya.2_Missense_Mutation_p.P240A|SELENBP1_uc009wmu.2_Missense_Mutation_p.P201A	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	304					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATTTCGGGCAGCAGCCAG	0.577000													11	275					0	0	0.080935	0	0
KCNT2	343450	broad.mit.edu	37	1	196274364	196274364	+	Silent	SNP	C	T	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:196274364C>T	uc001gtd.1	-	22	2655	c.2595G>A	c.(2593-2595)AAG>AAA	p.K865K	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.K791K|KCNT2_uc001gtf.1_Silent_p.K841K|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Silent_p.K841K|KCNT2_uc001gth.1_Silent_p.K362K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GGGGTCTTACCTTTTCCAGTT	0.338000													3	40					0	0	0.115264	0	0
NOS1	4842	broad.mit.edu	37	12	117724027	117724027	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr12:117724027T>C	uc001twm.1	-	6	1858	c.1172A>G	c.(1171-1173)AAA>AGA	p.K391R		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	391					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCGATCTCTTTGTTCACCTC	0.532000													3	37					0	0	0.115264	0	0
LOC646214	646214	broad.mit.edu	37	15	21938253	21938253	+	RNA	SNP	G	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr15:21938253G>C	uc010tzj.1	-	1		c.2487C>G				NR_027053				Homo sapiens mRNA for p21-activated kinase 2 variant protein.												0						caatggaacagaacagagccc	0.214000													4	50					0	0	0.150653	0	0
NLGN2	57555	broad.mit.edu	37	17	7318355	7318355	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7318355C>T	uc002ggt.1	+	5	998	c.925C>T	c.(925-927)CGG>TGG	p.R309W		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	309	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				CAAGTACACGCGGCTGCTGGC	0.652000													4	80					0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7577117A>C	uc002gim.2	-	8	1015	c.821T>G	c.(820-822)GTT>GGT	p.V274G	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V274G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V142G|TP53_uc010cng.1_Missense_Mutation_p.V142G|TP53_uc002gii.1_Missense_Mutation_p.V142G|TP53_uc010cnh.1_Missense_Mutation_p.V274G|TP53_uc010cni.1_Missense_Mutation_p.V274G|TP53_uc002gij.2_Missense_Mutation_p.V274G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	274	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V274F(17)|p.V274A(13)|p.V274L(9)|p.V274D(7)|p.0?(7)|p.V274G(6)|p.V274I(4)|p.V274V(3)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.V274fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACAGGCACAAACACGCACCTC	0.552000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	42					0	0	0.093190	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	35					0	0	0.021553	0	0
NPHS1	4868	broad.mit.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	T	T	rs146400394		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:36333388C>T	uc002oby.2	-	18	2399	c.2399G>A	c.(2398-2400)CGC>CAC	p.R800H		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	800	Ig-like C2-type 7.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R800H(1)		ovary(4)|skin(1)	5	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)			AATCCGCAGGCGCCCCGTTGG	0.607000													15	92					0	0	0.160694	0	0
PRX	57716	broad.mit.edu	37	19	40902431	40902431	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:40902431C>T	uc002onr.2	-	7	2097	c.1828G>A	c.(1828-1830)GAG>AAG	p.E610K	PRX_uc002onq.2_Missense_Mutation_p.E471K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	610	28.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGCCATCTCGGGCACCTTC	0.532000													10	273					0	0	0.069234	0	0
SHKBP1	92799	broad.mit.edu	37	19	41094661	41094661	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:41094661G>A	uc002oob.2	+	14	1517	c.1468G>A	c.(1468-1470)GGC>AGC	p.G490S	SHKBP1_uc002ooc.2_Missense_Mutation_p.G465S|SHKBP1_uc002ood.2_Missense_Mutation_p.G490S|SHKBP1_uc010xvl.1_Missense_Mutation_p.G413S|SHKBP1_uc002ooe.2_Missense_Mutation_p.G327S|SHKBP1_uc002oof.2_Missense_Mutation_p.G327S|SHKBP1_uc010xvm.1_Missense_Mutation_p.G270S|SHKBP1_uc010xvn.1_Missense_Mutation_p.G368S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	490						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G490S(1)		ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCATGGCGGCTGCAGTGC	0.617000													9	63					0	0	0.058154	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								14	80					0	0	0.160694	0	0
MYT1	4661	broad.mit.edu	37	20	62839768	62839768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:62839768C>T	uc002yii.2	+	7	1583	c.1219C>T	c.(1219-1221)CAG>TAG	p.Q407*	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Nonsense_Mutation_p.Q39*	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	407					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGCAGAGCCAGCTGGGCCT	0.672000													18	45					0	0	0.043863	0	0
GGT5	2687	broad.mit.edu	37	22	24622165	24622165	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:24622165C>A	uc002zzo.3	-	8	1525	c.1108G>T	c.(1108-1110)GAC>TAC	p.D370Y	GGT5_uc002zzp.3_Missense_Mutation_p.D370Y|GGT5_uc002zzr.3_Missense_Mutation_p.D338Y|GGT5_uc002zzq.3_Missense_Mutation_p.D338Y|GGT5_uc011ajm.1_Missense_Mutation_p.D293Y|GGT5_uc011ajn.1_RNA	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	370	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						AGCTGGTGGTCCCCCCGGCCA	0.697000													10	45					0.00136819	0.00140156	0.093190	1	0
BPIL2	254240	broad.mit.edu	37	22	32833775	32833775	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:32833775G>C	uc003amn.2	-	7	719	c.719C>G	c.(718-720)ACT>AGT	p.T240S	BPIL2_uc010gwo.2_Missense_Mutation_p.T54S|BPIL2_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	240						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2						GTAGTTCTCAGTAATTTCTGG	0.348000													8	29					0	0	0.047766	0	0
RBMS3	27303	broad.mit.edu	37	3	29323193	29323193	+	Silent	SNP	G	A	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:29323193G>A	uc003cel.2	+	1	251	c.21G>A	c.(19-21)CAG>CAA	p.Q7Q	RBMS3_uc003cek.2_Silent_p.Q7Q|RBMS3_uc010hfq.2_Silent_p.Q7Q|RBMS3_uc003cem.2_Silent_p.Q7Q|RBMS3_uc010hfr.2_Silent_p.Q7Q	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	7						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				GCCTGGATCAGCCACAAATGT	0.522000													9	67					0	0	0.047766	0	0
QRICH1	54870	broad.mit.edu	37	3	49070172	49070172	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:49070172T>C	uc010hkq.2	-	9	2226	c.1930A>G	c.(1930-1932)AAG>GAG	p.K644E	QRICH1_uc003cvu.2_Missense_Mutation_p.K644E|QRICH1_uc003cvv.2_Missense_Mutation_p.K644E	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	644										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCCAGCTTCATGTGCTGG	0.502000													22	100					0	0	0.091800	0	0
RGS12	6002	broad.mit.edu	37	4	3319342	3319342	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr4:3319342G>A	uc003ggw.2	+	2	2349	c.1445G>A	c.(1444-1446)GGG>GAG	p.G482E	RGS12_uc003ggu.2_Missense_Mutation_p.G482E|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.G482E|RGS12_uc003ggx.1_Missense_Mutation_p.G482E	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	482						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCCGAAGGGAGCCCCCCA	0.677000													26	120					0	0	0.108266	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960439	35960439	+	Missense_Mutation	SNP	C	T	T	rs150075304		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:35960439C>T	uc003olm.2	-	6	751	c.640G>A	c.(640-642)GTA>ATA	p.V214I	SLC26A8_uc003oln.2_Missense_Mutation_p.V214I|SLC26A8_uc003oll.2_Intron	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	214	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						AAACCCAATACGCCCATTATT	0.493000													5	96					0	0	0.014758	0	0
TMEM63B	55362	broad.mit.edu	37	6	44118317	44118317	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:44118317C>T	uc003owr.2	+	18	1688	c.1624C>T	c.(1624-1626)CGC>TGC	p.R542C	TMEM63B_uc003ows.2_Missense_Mutation_p.R445C|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	542						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCTTCTTCCGCTGGCTCTT	0.572000													17	71					0	0	0.175082	0	0
IFRD1	3475	broad.mit.edu	37	7	112112278	112112278	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr7:112112278G>A	uc003vgh.2	+	11	1489	c.1046G>A	c.(1045-1047)CGG>CAG	p.R349Q	IFRD1_uc011kmn.1_Missense_Mutation_p.R299Q|IFRD1_uc003vgj.2_Missense_Mutation_p.R349Q|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.R299Q|IFRD1_uc003vgk.2_Missense_Mutation_p.R66Q	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	349					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						GGTTAGGAACGGGATTTTCCA	0.383000													18	67					0	0	0.043863	0	0
VSIG4	11326	broad.mit.edu	37	X	65253439	65253439	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:65253439A>G	uc004dwh.2	-	2	416	c.289T>C	c.(289-291)TCC>CCC	p.S97P	VSIG4_uc004dwi.2_Missense_Mutation_p.S97P|VSIG4_uc010nkq.1_Missense_Mutation_p.S97P|VSIG4_uc004dwj.2_Missense_Mutation_p.S97P|VSIG4_uc011moy.1_Missense_Mutation_p.S97P|VSIG4_uc004dwk.2_Missense_Mutation_p.S97P|VSIG4_uc004dwl.2_5'UTR	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	97	Ig-like 1.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						AATTGGAGGGATACATCTCCT	0.537000													9	205					0	0	0.058154	0	0
ATRX	546	broad.mit.edu	37	X	76931745	76931745	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:76931745T>C	uc004ecp.3	-	10	4017	c.3785A>G	c.(3784-3786)GAT>GGT	p.D1262G	ATRX_uc004ecq.3_Missense_Mutation_p.D1224G|ATRX_uc004eco.3_Missense_Mutation_p.D1047G|ATRX_uc004ecr.2_Missense_Mutation_p.D1194G	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1262	Poly-Asp.				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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATTGTCGTCATCATCATCATC	0.373000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						6	93					0	0	0.038147	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106061970	106061970	+	Missense_Mutation	SNP	C	G	G	rs143630640	byFrequency	TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:106061970C>G	uc004emo.2	+	2	373	c.208C>G	c.(208-210)CCA>GCA	p.P70A	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.P70A|TBC1D8B_uc004emn.2_Missense_Mutation_p.P70A	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	70						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						ACACCAGACACCAGATTCTCA	0.363000													5	120					0	0	0.021553	0	0
PDZD4	57595	broad.mit.edu	37	X	153069212	153069212	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:153069212C>T	uc004fiz.1	-	8	2156	c.1906G>A	c.(1906-1908)GTG>ATG	p.V636M	PDZD4_uc004fiy.1_Missense_Mutation_p.V561M|PDZD4_uc004fix.2_Missense_Mutation_p.V540M|PDZD4_uc004fja.1_Missense_Mutation_p.V642M|PDZD4_uc011mze.1_Missense_Mutation_p.V527M	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	636						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGGCCACGTAGCGGGTT	0.701000													8	150					0	0	0.038147	0	0
VPS16	64601	broad.mit.edu	37	20	2840757	2840759	+	In_Frame_Del	DEL	ATA	-	-			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:2840757_2840759delATA	uc002whe.2	+	3	248_250	c.200_202delATA	c.(199-204)GATATA>GTA	p.67_68DI>V	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_In_Frame_Del_p.67_68DI>V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	67_68					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						CCAGTGCTCGATATATACTCTGC	0.591													22	88	---	---	---	---					
