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
C12orf71	728858	broad.mit.edu	37	12	27234398	27234398	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:27234398C>A	uc001rhq.3	-	1	558	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	173										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCTGGCTTATCATCTGCCATG	0.463000													38	61					4.92203e-23	5.20599e-23	1	1	0
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:7578542G>C	uc002gim.2	-	4	582	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_uc002gig.1_Missense_Mutation_p.L130V|TP53_uc002gih.3_Missense_Mutation_p.L130V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130V|TP53_uc010cnh.1_Missense_Mutation_p.L130V|TP53_uc002gij.2_Missense_Mutation_p.L130V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37V|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	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)			30	3					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931587	155931587	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:155931587T>C	uc001fmu.2	-	14	1720	c.1465A>G	c.(1465-1467)Atc>Gtc	p.I489V	ARHGEF2_uc001fmr.2_Missense_Mutation_p.I417V|ARHGEF2_uc001fms.2_Missense_Mutation_p.I444V|ARHGEF2_uc001fmt.2_Missense_Mutation_p.I445V|ARHGEF2_uc010pgt.1_Missense_Mutation_p.I418V|ARHGEF2_uc010pgu.1_Missense_Mutation_p.I490V	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	445	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGTTGTAGATCTCCTGCAGA	0.607000													43	48					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158988254	158988254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:158988254C>T	uc001ftg.3	+	4	1075	c.785C>T	c.(784-786)tCa>tTa	p.S262L	IFI16_uc010pis.2_Missense_Mutation_p.S206L|IFI16_uc010pit.2_Missense_Mutation_p.S262L|IFI16_uc001ftf.1_Missense_Mutation_p.S262L	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	262	HIN-200 1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATCATCATATCAGATTATTTG	0.368000													10	65					0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	rs142649226	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:22038134C>T	uc010tmb.2	-	0	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248M(2)|p.V248L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577000													20	110					0	0	1	0	0
PTER	9317	broad.mit.edu	37	10	16553190	16553190	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr10:16553190A>C	uc001iog.1	+	5	1192	c.985A>C	c.(985-987)Ata>Cta	p.I329L	PTER_uc001ioh.1_Missense_Mutation_p.I329L|PTER_uc001ioi.1_Missense_Mutation_p.I329L|PTER_uc009xjp.1_Missense_Mutation_p.I282L	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	329					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GCTGAGAGGCATAACTGAGAA	0.383000													7	136					0	0	1	0	0
SCGB2A2	4250	broad.mit.edu	37	11	62037739	62037739	+	Silent	SNP	C	C	T	rs137975337	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:62037739C>T	uc001ntc.3	+	0	110	c.51C>T	c.(49-51)taC>taT	p.Y17Y	SCGB2A2_uc009ynx.3_Silent_p.Y17Y	NM_002411	NP_002402	Q13296	SG2A2_HUMAN	Homo sapiens secretoglobin, family 2A, member 2 (SCGB2A2), mRNA.	17						extracellular region	steroid binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGCACTGCTACGCAGGTGAGT	0.592000													94	109					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000													4	19					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42537597	42537597	+	Missense_Mutation	SNP	A	A	G	rs1800754	by1000genomes	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:42537597A>G	uc003bci.3	-	5	1043	c.662T>C	c.(661-663)tTg>tCg	p.L221S	CYP2D7P1_uc003bcg.3_5'UTR|CYP2D7P1_uc010gyv.3_Missense_Mutation_p.L5S|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_Intron|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.L221S					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CAGCGTGGTCAAGGTGGTCAC	0.627000													4	32					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159707584	159707584	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:159707584G>A	uc003lyb.1	-	2	480	c.228C>T	c.(226-228)gtC>gtT	p.V76V	CCNJL_uc011dee.1_Silent_p.V76V|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.V76V	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	76	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGGTGGTGACGTTGTAGC	0.622000													5	99					0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245505	40245505	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:40245505G>A	uc003guz.2	+	2	1223	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	RHOH_uc021xnp.1_Missense_Mutation_p.V167I	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	167					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGAGTGCGCCGTCCGAACTGC	0.542000													34	26					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102984511	102984511	+	Silent	SNP	T	T	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:102984511T>A	uc002tbw.4	+	2	435	c.285T>A	c.(283-285)tcT>tcA	p.S95S	IL18R1_uc010ywb.1_Silent_p.S95S|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Silent_p.S95S|IL18R1_uc010ywc.2_Silent_p.S95S	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	95	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACACAGGATCTTACTTTTTCC	0.403000													12	128					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	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(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								40	47					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127449952	127449952	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:127449952T>C	uc003kus.3	+	2	1089	c.925T>C	c.(925-927)Tca>Cca	p.S309P	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.S309P	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	309					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTAGATTGTCATGGATTGT	0.373000													51	128					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37469676	37469676	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:37469676G>C	uc003aqt.1	-	12	1513	c.1451C>G	c.(1450-1452)gCc>gGc	p.A484G	TMPRSS6_uc003aqs.1_Missense_Mutation_p.A493G	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	493	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGAATGTGGCTCTGCAAAC	0.587000													11	96					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10445307	10445307	+	Silent	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:10445307A>G	uc002mob.2	-	4	1144	c.1089T>C	c.(1087-1089)aaT>aaC	p.N363N	RAVER1_uc002moa.3_5'Flank|ICAM3_uc010dxd.1_Silent_p.N286N	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	363	Ig-like C2-type 4.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCTCGGTAGCATTTAGCTGAA	0.632000													35	55					0	0	1	0	0
ACAT2	39	broad.mit.edu	37	6	160199292	160199292	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:160199292C>G	uc010kjy.3	+	7	1134	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	ACAT2_uc011efw.2_Missense_Mutation_p.L364V	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), mRNA.	335						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTTAAAGAACTTGGATTAAA	0.388000													13	21					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561537	45561537	+	Splice_Site	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr15:45561537T>C	uc001zva.2	+	14	1434	c.1369_splice	c.e14-1	p.V457_splice		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	457					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTCACTCAGGTCATCTGCTCC	0.478000													32	112					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620581	8620581	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:8620581C>T	uc002mkg.3	-	1	241	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	MYO1F_uc010xkf.2_Missense_Mutation_p.A35T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	35	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGAGGTTGGCGGCAATGGCG	0.617000													26	61					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	rs138948519		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:1422122C>T	uc003jck.3	-	4	787	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	221					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.V221M(2)		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)	AGGTGCAGCACGCCACGTCTG	0.662000													7	86					0	0	1	0	0
EID2B	126272	broad.mit.edu	37	19	40023429	40023429	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:40023429G>C	uc002olz.1	-	0	66	c.14C>G	c.(13-15)aCt>aGt	p.T5S		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 2B (EID2B), mRNA.	5					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACAGCCCAGTCGGCTCCGC	0.647000											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	19					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201817721	201817721	+	Splice_Site	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:201817721A>G	uc001gwz.3	+	4	564	c.514_splice	c.e4+1	p.E172_splice		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	172					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGCTGACAGGTACCAGAA	0.512000													19	25					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727731	7727731	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:7727731G>A	uc003mxu.4	+	0	721	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	181					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCGCACCCGCTCAACCGCA	0.741000													3	13					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345181	5345181	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:5345181A>G	uc001mao.1	-	0	402	c.347T>C	c.(346-348)aTg>aCg	p.M116T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATATGCCATTGCCAGGAG	0.458000													7	85					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000													4	15					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843555	215843555	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:215843555G>A	uc002vew.3	-	31	5170	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y	ABCA12_uc002vev.3_Silent_p.Y1332Y|ABCA12_uc010zjn.2_Silent_p.Y577Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1650					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGAAATGCCGTAGCACCCGA	0.458000													7	135					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133654661	133654661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:133654661G>A	uc003eqa.4	-	12	2045	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	591					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAGGCCCCTCGCCTCCCCAAG	0.602000													4	28					0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39870639	39870639	+	Silent	SNP	G	G	A	rs144987416		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:39870639G>A	uc001wvk.3	-	2	1475	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	379										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTTCACTCTTGATATCAAAAG	0.398000													43	53					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640072	27640072	+	Silent	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr16:27640072T>C	uc002dow.3	+	3	255	c.231T>C	c.(229-231)aaT>aaC	p.N77N		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	77										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGTGCCAATTCGGAGCTGA	0.522000													43	142					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	rs12637558	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:193081122G>T	uc011bsq.2	-	2	287	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	96			S -> Y (in dbSNP:rs12637558).		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96F(2)|p.S96Y(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398000													5	60					0.014758	0.0150313	1	1	0
STK31	56164	broad.mit.edu	37	7	23871943	23871943	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr7:23871943T>A	uc003sws.4	+	23	3085	c.3018T>A	c.(3016-3018)tgT>tgA	p.C1006*	STK31_uc003swt.4_Nonsense_Mutation_p.C983*|STK31_uc011jze.2_Nonsense_Mutation_p.C983*|STK31_uc010kuq.3_Nonsense_Mutation_p.C983*|STK31_uc003swv.1_Nonsense_Mutation_p.C172*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	1006	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATAAATGTATGGAGAAGA	0.333000													55	50					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	rs142483068	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:152284999C>T	uc001ezu.1	-	2	2399	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCGAGACCTTTC	0.567000									Ichthyosis				147	385					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43488036	43488036	+	Silent	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:43488036T>C	uc003jnz.2	-	11	2097	c.1695A>G	c.(1693-1695)gaA>gaG	p.E565E		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	565										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TCTTTTCAAGTTCAGAAGCAA	0.318000													3	15					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24077560	24077561	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:24077560_24077561delAA	uc001bho.3	+	3	603_604	c.543_544delAA	c.(541-546)agaaagfs	p.R181fs		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	181					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGATGAGAGAAAGAGGTGTCA	0.480													50	121	---	---	---	---					
GBP2	2634	broad.mit.edu	37	1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-	rs142287187		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89578261_89578263delTCT	uc001dmz.1	-	7	1525_1527	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	418					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.E418delE(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438													40	192	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89615082	89615083	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89615082_89615083delGT	uc001dna.2	-	6	1183_1184	c.1044_1045delAC	c.(1042-1047)acactcfs	p.T348fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	348						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTCCTGGAGTGTGTCTGTGG	0.535													11	147	---	---	---	---					
UXS1	80146	broad.mit.edu	37	2	106710502	106710505	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:106710502_106710505delCTTT	uc002tdm.3	-	14	1338_1341	c.1240_1243delAAAG	c.(1240-1245)aaaggafs	p.K414fs	UXS1_uc002tdk.3_Frame_Shift_Del_p.K212fs|UXS1_uc002tdl.3_Frame_Shift_Del_p.K246fs|UXS1_uc002tdn.3_Frame_Shift_Del_p.K419fs|UXS1_uc002tdo.3_Frame_Shift_Del_p.K357fs	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	414					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGAGTCCGTCCTTTCTTTATTCTG	0.412													35	32	---	---	---	---					
SEC22A	26984	broad.mit.edu	37	3	122944084	122944085	+	Frame_Shift_Ins	INS	-	-	CCGATGGAGT			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:122944084_122944085insCCGATGGAGT	uc003ege.3	+	3	560_561	c.481_482insCCGATGGAGT	c.(481-483)gccfs	p.A161fs	SEC22A_uc003egf.3_Frame_Shift_Ins_p.A161fs	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	161					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACTGGGGTCAGCCAATGGAGTC	0.396													18	164	---	---	---	---					
ZXDC	79364	broad.mit.edu	37	3	126191130	126191133	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:126191130_126191133delATAA	uc003eiv.3	-	1	977_980	c.923_926delTTAT	c.(922-927)tttatcfs	p.F308fs	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Frame_Shift_Del_p.F308fs	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	308					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACTCACTGTGATAAATGTCTTCTC	0.475													44	77	---	---	---	---					
YTHDC1	91746	broad.mit.edu	37	4	69203308	69203310	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:69203308_69203310delAGG	uc003hdx.3	-	2	792_794	c.439_441delCCT	c.(439-441)cctdel	p.P147del	YTHDC1_uc003hdy.3_In_Frame_Del_p.P147del	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	147										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CATCTGGCGTAGGAGATTTGGCC	0.404													21	37	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114277079	114277080	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:114277079_114277080delCT	uc003ibe.4	+	37	7405_7406	c.7305_7306delCT	c.(7303-7308)gactctfs	p.D2435fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.D2450fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2402					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACAAAGACTCTCTGGAAGC	0.510													45	66	---	---	---	---					
RELL2	285613	broad.mit.edu	37	5	141018562	141018564	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:141018562_141018564delAGG	uc003lli.3	+	3	1139_1141	c.291_293delAGG	c.(289-294)gaagga>gaa	p.G98del	HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.3_In_Frame_Del_p.G98del	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	98						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGTGAAGGAGAAGGGACA	0.557													7	31	---	---	---	---					
GEMIN5	25929	broad.mit.edu	37	5	154315435	154315438	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:154315435_154315438delAAGT	uc003lvx.3	-	2	555_558	c.472_475delACTT	c.(472-477)acttgtfs	p.T158fs	GEMIN5_uc011ddk.1_Frame_Shift_Del_p.T158fs	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	158					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGGTGAACAAGTAAGACAGAAA	0.353													7	90	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921	by1000genomes	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr8:101724994_101724995insA	uc003yjs.1	-	5	1265_1266	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.K222fs|PABPC1_uc011lhd.1_Frame_Shift_Ins_p.K209fs|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.K251fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													8	85	---	---	---	---					
OR1J4	26219	broad.mit.edu	37	9	125281597	125281599	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr9:125281597_125281599delTTC	uc011lyw.2	+	0	178_180	c.178_180delTTC	c.(178-180)ttcdel	p.F62del		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCCCCATGTTCTTCTTCCTCA	0.498													133	175	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:57466855_57466857delAGA	uc001nkx.1	+	10	3203_3205	c.1947_1949delAGA	c.(1945-1950)acagaa>aca	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCTCTGAGACAGAAGAAGTGGCC	0.512													11	107	---	---	---	---					
CALCOCO1	57658	broad.mit.edu	37	12	54110173	54110175	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:54110173_54110175delCTC	uc001sef.3	-	7	1018_1020	c.874_876delGAG	c.(874-876)gagdel	p.E292del	CALCOCO1_uc001see.3_5'Flank|CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_In_Frame_Del_p.E169del|CALCOCO1_uc009znd.3_In_Frame_Del_p.E292del|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_In_Frame_Del_p.E292del|CALCOCO1_uc010soo.1_In_Frame_Del_p.E285del	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	292					Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTGATGGTTCTCCTGTTGTGCC	0.542													40	50	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:11106926_11106928delAGA	uc010dxp.3	+	10	1991_1993	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K546del|SMARCA4_uc002mqg.1_In_Frame_Del_p.K546del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K546del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K546del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqe.2_In_Frame_Del_p.K546del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	546					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC								42	160	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76918950	76918951	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chrX:76918950_76918951delCA	uc004ecp.4	-	11	4272_4273	c.4040_4041delTG	c.(4039-4041)gtgfs	p.V1347fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.V1309fs|ATRX_uc004eco.4_Frame_Shift_Del_p.V1132fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.V1279fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1347					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.?(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)	CTCCGTCACTCACAGTCAATTT	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						27	5	---	---	---	---					
