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	76939961	76939961	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	uc004ecp.4	-	8	1019	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_uc004ecq.4_Missense_Mutation_p.W225R|ATRX_uc004eco.4_Missense_Mutation_p.W48R|ATRX_uc004ecr.2_Missense_Mutation_p.W224R|ATRX_uc010nlx.1_Missense_Mutation_p.W263R|ATRX_uc010nly.1_Missense_Mutation_p.W208R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	263	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.W263*(1)|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)	TAGCAATACCATTGGTTGTTT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						111	98					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44120532	44120532	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	uc004dgb.4	-	3	484	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	132	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413000													23	31					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	uc001mxi.3	+	9	1368	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_uc001mxh.3_Missense_Mutation_p.R433H|TTC17_uc010rfj.2_Missense_Mutation_p.R376H|TTC17_uc001mxj.3_Missense_Mutation_p.R203H	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	433							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGCTATCATCGTGGAGATATC	0.373000													10	20					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039467	153039467	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	uc010nuk.2	+	20	3773	c.3502C>A	c.(3502-3504)Cag>Aag	p.Q1168K	PLXNB3_uc004fii.2_Missense_Mutation_p.Q1145K|PLXNB3_uc011mzd.1_Missense_Mutation_p.Q784K|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1145	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGTACCAGCCCAACCC	0.672000													29	64					9.39395e-14	9.39395e-14	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	uc002dfa.3	-	11	2648	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	855					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTTCAGTGCCTCCTCTGAA	0.562000													48	38					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	uc002gim.2	-	6	889	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_uc002gig.1_Missense_Mutation_p.I232S|TP53_uc002gih.3_Missense_Mutation_p.I232S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I100S|TP53_uc010cnf.1_Missense_Mutation_p.I100S|TP53_uc002gii.1_Missense_Mutation_p.I100S|TP53_uc010cni.1_Missense_Mutation_p.I232S|TP53_uc010cnh.1_Missense_Mutation_p.I232S|TP53_uc002gij.2_Missense_Mutation_p.I232S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I139S|TP53_uc002gio.2_Missense_Mutation_p.I100S|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I232T(14)|p.I232N(12)|p.I232F(8)|p.0?(8)|p.T231T(5)|p.I232V(5)|p.?(5)|p.I232S(4)|p.C229_H233delCTTIH(4)|p.I232_H233insG(4)|p.T231S(3)|p.T231A(2)|p.T231I(2)|p.S227_I232delSDCTTI(2)|p.T231fs*16(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.C229_I232del(2)|p.T230fs*6(2)|p.I232fs*8(2)|p.I232fs*5(2)|p.V225fs*23(1)|p.T231del(1)|p.I232I(1)|p.I232L(1)|p.T231N(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I139T(1)|p.I232fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GTTGTAGTGGATGGTGGTACA	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			40	9					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	uc010uvh.2	+	16	3173	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1058						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATACCGCTGTCCTCGTCAGAG	0.602000													22	43					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	uc010vrb.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	122					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537000													22	103					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299672	125299672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	uc004euk.2	-	0	409	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTGGACGGCGTAGCCCCG	0.706000													27	56					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	uc001rjd.3	-	6	1159	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_uc010sjt.2_Missense_Mutation_p.R66W	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity	p.R271W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418000													73	119					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052378	55052378	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	uc004dua.4	-	1	194	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_uc004dub.4_Missense_Mutation_p.T43I|ALAS2_uc004dud.4_Missense_Mutation_p.T19I	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	19					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542000													14	62					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	uc002opr.1	+	4	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	253					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGAAGCACCGTGAAACCCTG	0.527000													63	129					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14535207	14535207	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	uc021wtn.1	-	25	3386	c.3386G>A	c.(3385-3387)cGa>cAa	p.R1129Q	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	1033					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672000													9	9					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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 -> 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).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								18	40					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	uc002ngk.1	-	2	1160	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	374						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCTGAGCTGCTCCGCCTCC	0.622000													40	67					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	uc003jck.3	-	8	1348	c.1222delG	c.(1222-1224)gccfs	p.A408fs		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	408					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGACCACGGCCCAGGCTGAG	0.637													2	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr9:100616701_100616706delGCCGCC	uc004axu.3	+	0	1165_1170	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													9	11	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	uc001xgd.1	-	8	1453_1457	c.863_867delTAGTA	c.(862-867)atagtafs	p.I288fs	PPP2R5E_uc010tsf.1_Frame_Shift_Del_p.I212fs|PPP2R5E_uc010tsg.1_Frame_Shift_Del_p.I212fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.I288fs|PPP2R5E_uc001xge.2_Frame_Shift_Del_p.I288fs|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	288					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCAGAAACTGTACTATACAATATGC	0.293													8	15	---	---	---	---					
TMEM143	55260	broad.mit.edu	37	19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	uc002pix.1	-	6	1161	c.1152delA	c.(1150-1152)caafs	p.Q384fs	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Frame_Shift_Del_p.Q319fs|TMEM143_uc010elw.1_Frame_Shift_Del_p.Q284fs|TMEM143_uc010xzo.1_Frame_Shift_Del_p.Q174fs|TMEM143_uc002piy.1_Frame_Shift_Del_p.Q349fs	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	384						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
MID1	4281	broad.mit.edu	37	X	10442895	10442895	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:10442895delT	uc004cta.4	-	0	307	c.177delA	c.(175-177)aaafs	p.K59fs	MID1_uc004ctd.4_Intron|MID1_uc004cte.4_Intron|MID1_uc004ctg.4_Intron|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Intron|MID1_uc004ctj.4_Intron|MID1_uc004cti.4_Intron|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Intron|MID1_uc004ctn.2_Intron|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_Intron|MID1_uc004cts.1_Intron|MID1_uc004csz.4_Intron|MID1_uc004ctb.4_Intron|MID1_uc004ctc.4_Intron|MID1_uc004ctl.2_Frame_Shift_Del_p.K59fs|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Intron|MID1_uc004ctr.1_Intron|MID1_uc010ndu.1_Intron|MID1_uc010ndv.1_Intron	NM_033289	NP_150631	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 5, mRNA.	0					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TAAAAAGTGCTTTTTTACACA	0.289													9	12	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	uc004dsz.4	-	0	412_413	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_uc011moh.2_In_Frame_Ins_p.110_110P>PPP|FAM120C_uc004dta.2_In_Frame_Ins_p.110_110P>PPP	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	110										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													5	10	---	---	---	---					
RLIM	51132	broad.mit.edu	37	X	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G	rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	uc004ebu.3	-	4	1240_1241	c.950_951insC	c.(949-951)ccafs	p.P317fs	RLIM_uc004ebw.3_Frame_Shift_Ins_p.P317fs	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	317					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.480													30	34	---	---	---	---					
