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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CHD7	55636	broad.mit.edu	37	8	61735226	61735226	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:61735226T>G	uc003xue.3	+	11	3614	c.3122T>G	c.(3121-3123)tTg>tGg	p.L1041W	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.L154W	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1041	Helicase ATP-binding.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGACAGAGTTGAACGTGGTT	0.433000														201			6		0	0	0.021553	0	0
KDM6B	23135	broad.mit.edu	37	17	7752905	7752905	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	uc002gix.3	+	0	2042	c.1205C>A	c.(1204-1206)cCc>cAc	p.P402H	KDM6B_uc002giw.1_Missense_Mutation_p.P1100H	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1100	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGGGGCCCCCCAAGGAGCTG	0.632000														30			3		2.56e-06	2.91137e-06	0.009096	1	0
RALA	5898	broad.mit.edu	37	7	39726381	39726381	+	Splice_Site	SNP	G	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:39726381G>T	uc003thd.3	+	2	424	c.114_splice	c.e2+1	p.E38_splice		NM_005402	NP_005393	P11233	RALA_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog A (ras related) (RALA), mRNA.	38					Ras protein signal transduction|actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTACGATGAGGTAAGTGCTAA	0.418000														45			4		0.00024832	0.000271746	0.009096	1	0
PTPRU	10076	broad.mit.edu	37	1	29585123	29585123	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	uc001bru.3	+	2	441	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_uc009vtq.3_Nonsense_Mutation_p.Y104*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.Y104*|PTPRU_uc001brw.3_Nonsense_Mutation_p.Y104*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	104	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTTCAGCTACTTCCTGTACA	0.602000														190			19		1.9806e-07	2.29749e-07	0.069288	1	0
CACNA1G	8913	broad.mit.edu	37	17	48652951	48652951	+	Silent	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	uc002irk.1	+	7	1560	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_uc002iri.1_Silent_p.T396T|CACNA1G_uc002irj.1_Silent_p.T396T|CACNA1G_uc002irl.1_Silent_p.T396T|CACNA1G_uc002irm.1_Silent_p.T396T|CACNA1G_uc002irn.1_Silent_p.T396T|CACNA1G_uc002iro.1_Silent_p.T396T|CACNA1G_uc002irp.1_Silent_p.T396T|CACNA1G_uc002irq.1_Silent_p.T396T|CACNA1G_uc002irr.1_Silent_p.T396T|CACNA1G_uc002irs.1_Silent_p.T396T|CACNA1G_uc002irt.1_Silent_p.T396T|CACNA1G_uc002iru.1_Silent_p.T396T|CACNA1G_uc002irv.1_Silent_p.T396T|CACNA1G_uc002irw.1_Silent_p.T396T|CACNA1G_uc002irx.1_Silent_p.T309T|CACNA1G_uc002iry.1_Silent_p.T309T|CACNA1G_uc002isg.1_Silent_p.T309T|CACNA1G_uc002ish.1_Silent_p.T309T|CACNA1G_uc002isi.1_Silent_p.T309T|CACNA1G_uc002irz.1_Silent_p.T309T|CACNA1G_uc002isa.1_Silent_p.T309T|CACNA1G_uc002isd.1_Silent_p.T309T|CACNA1G_uc002isb.1_Silent_p.T309T|CACNA1G_uc002isc.1_Silent_p.T309T|CACNA1G_uc002ise.1_Silent_p.T309T|CACNA1G_uc002isf.1_Silent_p.T309T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	396					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.A395A(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATTGCCACGCAGTTCTCAG	0.572000														46			19		0	0	0.030593	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106438	147106438	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:147106438A>G	uc004fcm.3	+	4	760	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	229						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGTTTGAAGAAACAAAGA	0.413000														45			3		0	0	0.004672	0	0
KANK3	256949	broad.mit.edu	37	19	8398111	8398111	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:8398111C>T	uc010dwa.3	-	6	1789	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	KANK3_uc002mjp.1_Missense_Mutation_p.R120H	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	575										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGCGCACTGCGCCCTGCAAG	0.697000														33			3		0	0	0.014758	0	0
CORO2A	7464	broad.mit.edu	37	9	100897226	100897226	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	uc004aym.3	-	3	446	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_uc004ayl.3_Missense_Mutation_p.W110C	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	110					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632000														52			22		7.88262e-20	9.33045e-20	0.083992	1	0
ASAP1	50807	broad.mit.edu	37	8	131370312	131370312	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	uc003yta.2	-	2	365	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_uc011liw.2_Missense_Mutation_p.F39C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	46					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGCGTGGTGAAGCTGGACGT	0.677000														27			7		0	0	0.047766	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879328	39879328	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:39879328G>A	uc009vvt.1	+	0	4153	c.3391G>A	c.(3391-3393)Gcc>Acc	p.A1131T	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	995	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCGCCTCCCCAGC	0.711000														13			3		0	0	0.004672	0	0
UXS1	80146	broad.mit.edu	37	2	106746145	106746145	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	uc002tdm.3	-	6	645	c.547A>G	c.(547-549)Aca>Gca	p.T183A	UXS1_uc002tdl.3_Missense_Mutation_p.T15A|UXS1_uc002tdn.3_Missense_Mutation_p.T188A|UXS1_uc002tdo.3_Missense_Mutation_p.T126A|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	183					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						ATGTTTAATGTCCCAATCGTA	0.378000														20			12		0	0	0.020292	0	0
GPR162	27239	broad.mit.edu	37	12	6933475	6933475	+	Silent	SNP	C	T	T	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	uc001qqw.1	+	1	946	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_uc010sfn.1_Silent_p.A137A|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	137						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617000														51			28		0	0	0.030593	0	0
DNAH2	146754	broad.mit.edu	37	17	7708392	7708392	+	Splice_Site	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	uc002giu.1	+	59	9314	c.9300_splice	c.e59+1	p.R3100_splice	DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3100	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCATGCGGGTACCAGGGG	0.582000														67			3		0	0	0.014758	0	0
SLC25A39	51629	broad.mit.edu	37	17	42399117	42399117	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	uc002ign.2	-	5	497	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC25A39_uc002igm.2_Missense_Mutation_p.V107M|SLC25A39_uc010wiw.1_Missense_Mutation_p.V92M|SLC25A39_uc010wix.1_Missense_Mutation_p.V107M|SLC25A39_uc010wiy.1_Missense_Mutation_p.V100M	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	115					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637000														38			13		0	0	0.093190	0	0
NCKAP5	344148	broad.mit.edu	37	2	133721292	133721292	+	Splice_Site	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	uc002ttp.3	-	8	953	c.579_splice	c.e8+1	p.E193_splice	NCKAP5_uc002ttq.3_Splice_Site_p.E193_splice|NCKAP5_uc002tts.1_Splice_Site_p.E168_splice	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	193							protein binding	p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368000														46			14		0	0	0.024245	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439641	150439641	+	Silent	SNP	T	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:150439641T>C	uc022apw.1	+	5	1166	c.1026T>C	c.(1024-1026)ttT>ttC	p.F342F	GIMAP1-GIMAP5_uc003whr.2_Silent_p.F138F	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AAGAGGTCTTTGGGACAGGGG	0.582000														114			15		0	0	0.033300	0	0
EFTUD1	79631	broad.mit.edu	37	15	82554109	82554109	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	uc002bgt.1	-	1	180	c.11A>G	c.(10-12)aAc>aGc	p.N4S	EFTUD1_uc002bgu.1_Missense_Mutation_p.N4S|FAM154B_uc010unr.2_5'Flank|FAM154B_uc002bgv.3_5'Flank|FAM154B_uc010uns.2_5'Flank	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	4					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333000														94			21		0	0	0.069288	0	0
VWA5A	4013	broad.mit.edu	37	11	123989697	123989697	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:123989697G>A	uc001pzu.3	+	6	870	c.661G>A	c.(661-663)Gga>Aga	p.G221R	VWA5A_uc001pzr.3_Missense_Mutation_p.G221R|VWA5A_uc001pzs.3_Missense_Mutation_p.G221R|VWA5A_uc010sae.2_Missense_Mutation_p.G237R|VWA5A_uc001pzt.3_Missense_Mutation_p.G221R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	221										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTGGCTGCTGGACACAAGTT	0.522000														52			3		0	0	0.009096	0	0
ATN1	1822	broad.mit.edu	37	12	7048208	7048208	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:7048208G>A	uc001qrw.1	+	6	3319	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	ATN1_uc001qrx.1_Missense_Mutation_p.A1028T	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1028					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.A1028S(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGGCAGCACGCAGAAAGGGT	0.662000														109			4		0	0	0.014758	0	0
FAM209B	388799	broad.mit.edu	37	20	55101032	55101032	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr20:55101032G>A	uc002xxx.3	+	1	502	c.422G>A	c.(421-423)aGt>aAt	p.S141N	GCNT7_uc010zzg.1_5'Flank|FAM209B_uc010zzh.2_Intron	NM_001012971	NP_001012989	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member A (FAM209A), mRNA.	141						integral to membrane											GCAACAGGTAGTGGCAGTAAC	0.448000														92			5		0	0	0.021553	0	0
RFX7	64864	broad.mit.edu	37	15	56387426	56387426	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	uc010bfn.3	-	8	2500	c.2500C>T	c.(2500-2502)Cag>Tag	p.Q834*	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Nonsense_Mutation_p.Q648*	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	737					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393000														132			8		0	0	0.047766	0	0
TMCO7	79613	broad.mit.edu	37	16	68900994	68900994	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:68900994G>A	uc002ewi.4	+	3	877	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TMCO7_uc002ewh.3_Missense_Mutation_p.V289M	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	289						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CTGCACAGATGTGAAGACACA	0.473000														78			38		0	0	0.111260	0	0
CLDN7	1366	broad.mit.edu	37	17	7163696	7163696	+	Silent	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7163696C>T	uc002gfm.4	-	3	1535	c.633G>A	c.(631-633)gtG>gtA	p.V211V	CLDN7_uc010cmc.3_3'UTR|CLDN7_uc002gfn.4_Silent_p.V211V	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	211	Interactions with TJP1, TJP2 and TJP3 (By similarity).				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TCCCAGGTCACACATACTCCT	0.597000														153			7		0	0	0.047766	0	0
FAM182B	728882	broad.mit.edu	37	20	25848617	25848617	+	RNA	SNP	A	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr20:25848617A>G	uc002wvd.1	-	0		c.170T>C								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ggcaggcctgaggctgggatg	0.672000														10			3		0	0	0.009096	0	0
C3orf15	89876	broad.mit.edu	37	3	119465994	119465994	+	Silent	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:119465994C>T	uc003ede.4	+	14	2012	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	C3orf15_uc010hqz.3_Silent_p.S583S|C3orf15_uc011bjd.2_Silent_p.S519S|C3orf15_uc011bje.2_Silent_p.S625S|C3orf15_uc003edg.4_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	481						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CTATAAGCTCCTACCTAGAAG	0.373000														88			12		0	0	0.024245	0	0
ACTG2	72	broad.mit.edu	37	2	74146597	74146597	+	Silent	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:74146597C>T	uc002sjw.3	+	8	1148	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ACTG2_uc010yrn.2_Silent_p.I299I|ACTG2_uc010fey.3_Silent_p.I342I	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	342					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CAGTCTGGATCGGGGGCTCTA	0.527000														85			10		0	0	0.080935	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:43627757A>G	uc011lrb.2	-	3	959	c.930T>C	c.(928-930)tgT>tgC	p.C310C		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	310						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CTTCCATCTGACAGGTCTCTG	0.532000														264			56		0	0	0.048971	0	0
NOL6	65083	broad.mit.edu	37	9	33467861	33467861	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	uc003zsz.3	-	11	1531	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Missense_Mutation_p.R477H|NOL6_uc010mjv.3_Missense_Mutation_p.R474H|NOL6_uc011lob.2_Missense_Mutation_p.R425H|NOL6_uc003ztb.1_Missense_Mutation_p.R477H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	477					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTCAGTGGACGGAGACTGGA	0.602000														47			4		0	0	0.021553	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861015	75861015	+	Silent	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:75861015G>A	uc001vjl.1	-	20	4157	c.3810C>T	c.(3808-3810)ccC>ccT	p.P1270P	TBC1D4_uc010tht.1_Silent_p.P480P|TBC1D4_uc010thu.1_Silent_p.P427P|TBC1D4_uc010aer.2_Silent_p.P1262P|TBC1D4_uc010aes.2_Silent_p.P1207P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1270						cytoplasm	Rab GTPase activator activity	p.P1270P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGCATCCGCGGGCAGCAGCT	0.453000														56			3		0	0	0.004672	0	0
KCNU1	157855	broad.mit.edu	37	8	36642081	36642081	+	Silent	SNP	T	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:36642081T>C	uc010lvw.3	+	0	240	c.153T>C	c.(151-153)tcT>tcC	p.S51S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	51						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGAGATCTGTTAAAAAAT	0.438000														33			4		0	0	0.009096	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	G	G	rs121913274		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:178936092A>G	uc003fjk.3	+	9	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				49			4		0	0	0.009096	0	0
DCHS2	54798	broad.mit.edu	37	4	155163900	155163900	+	Silent	SNP	T	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:155163900T>C	uc003inw.2	-	21	5601	c.5601A>G	c.(5599-5601)aaA>aaG	p.K1867K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1867	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCATCCCTTTATCTGTGG	0.378000														64			3		0	0	0.004672	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	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									58			29		0	0	0.059317	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542876	154542876	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	uc010ipp.3	+	27	3786	c.3734T>A	c.(3733-3735)tTt>tAt	p.F1245Y	KIAA0922_uc003inm.4_Missense_Mutation_p.F1244Y|KIAA0922_uc010ipq.3_Missense_Mutation_p.F1013Y	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1244						integral to membrane		p.P1244P(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433000														54			8		0	0	0.047766	0	0
FBXO40	51725	broad.mit.edu	37	3	121340407	121340407	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:121340407C>G	uc003eeg.2	+	2	341	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	44					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTGTGGTGCCACCTTCCAC	0.572000														109			9		0	0	0.058154	0	0
TAF1	6872	broad.mit.edu	37	X	70626502	70626502	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	uc004dzu.4	+	25	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R1358L|TAF1_uc004dzv.4_Missense_Mutation_p.R511L|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1337					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGGTTCGCAGAAAATCT	0.398000														37			6		5.18039e-06	5.77813e-06	0.038147	1	0
HAS1	3036	broad.mit.edu	37	19	52220383	52220383	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	uc002pxn.1	-	1	800	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.E221K|HAS1_uc002pxo.1_Missense_Mutation_p.E256K|HAS1_uc002pxp.1_Missense_Mutation_p.E255K	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	256					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622000														69			13		0	0	0.033300	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000														50			3		0	0	0.004672	0	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr20:62839350G>A	uc002yii.3	+	6	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000														10			3		0	0	0.004672	0	0
PXDNL	137902	broad.mit.edu	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:52321594G>A	uc003xqu.4	-	16	2691	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	864					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662000														51			3		0	0	0.004672	0	0
GEMIN6	79833	broad.mit.edu	37	2	39008705	39008705	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	uc002rrc.3	+	2	360	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_uc002rrb.3_Non-coding_Transcript	NM_024775	NP_079051	Q8WXD5	GEMI6_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 6 (GEMIN6), mRNA.	59					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443000														100			35		0	0	0.074837	0	0
CLIC4	25932	broad.mit.edu	37	1	25140630	25140630	+	Silent	SNP	A	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	uc001bjo.2	+	2	513	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_uc001bjp.1_Silent_p.P56P	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	76	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398000														69			12		0	0	0.093190	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000														83			3		0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10303716	10303716	+	Silent	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	uc002gmm.2	-	26	3821	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1242					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGCTTTGGAAATGGCCT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					180			59		0	0	0.048971	0	0
FLG2	388698	broad.mit.edu	37	1	152324407	152324407	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:152324407C>G	uc001ezw.4	-	2	5928	c.5855G>C	c.(5854-5856)gGa>gCa	p.G1952A	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1952							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.527000														317			5		0	0	0.014758	0	0
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	A	A	rs148400497	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	uc001ktg.1	-	4	1759	c.993C>T	c.(991-993)agC>agT	p.S331S	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_Silent_p.S23S|POLL_uc001kth.1_Silent_p.S56S|POLL_uc001ktj.2_Silent_p.S331S|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.S239S|POLL_uc001kti.2_Silent_p.S331S|POLL_uc001ktl.3_Silent_p.S243S|POLL_uc001ktm.3_Silent_p.S331S|POLL_uc010qqc.2_Silent_p.S23S|POLL_uc010qqa.2_Silent_p.S70S|POLL_uc010qqd.2_3'UTR	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562000								DNA polymerases (catalytic subunits)						78			6		0	0	0.038147	0	0
FREM2	341640	broad.mit.edu	37	13	39265629	39265629	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	uc001uwv.3	+	0	4457	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1383					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGTATGTCCATTTGGGG	0.413000														156			11		0	0	0.080935	0	0
PIWIL2	55124	broad.mit.edu	37	8	22146091	22146091	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:22146091G>A	uc003xbn.2	+	7	1046	c.898G>A	c.(898-900)Gct>Act	p.A300T	PIWIL2_uc011kzf.1_Missense_Mutation_p.A300T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A300T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	300					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACAGACAGTGCTGAAATCAG	0.383000														69			4		0	0	0.014758	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107313	249107313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:249107313G>A	uc001iew.1	-	5	1138	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.R89*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.R77*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTCACTCGCTGGTGCTCC	0.632000														24			3		0	0	0.009096	0	0
MARCH4	57574	broad.mit.edu	37	2	217234779	217234779	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:217234779delG	uc002vgb.3	-	0	1972	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	69	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701													---	4	---	---	2	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:42739670_42739672delGAA	uc003clw.3	-	6	802_804	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_uc003clx.3_In_Frame_Del_p.F219del	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													---	176	---	---	7	---					
PBRM1	55193	broad.mit.edu	37	3	52598217	52598217	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:52598217delG	uc003des.2	-	22	3736	c.3724delC	c.(3724-3726)ctcfs	p.L1242fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.L1242fs|PBRM1_uc003der.2_Frame_Shift_Del_p.L1210fs|PBRM1_uc003det.2_Frame_Shift_Del_p.L1257fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.L1257fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.L1242fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.L1217fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.L1217fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.L1241fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1242	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCAGGAGAGGAAGTCCTTG	0.383			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								---	98	---	---	7	---					
ZBTB20	26137	broad.mit.edu	37	3	114069165	114069166	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:114069165_114069166delAA	uc003ebi.3	-	3	1939_1940	c.1759_1760delTT	c.(1759-1761)ttcfs	p.F587fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTTGGCGGTGAAAGTCTTGTTG	0.599													---	261	---	---	16	---					
PDGFRA	5156	broad.mit.edu	37	4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	uc003gzy.3	+	16	1769_1770	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.H522fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.H454fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.H493fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.I116fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V527M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAGAACGACATAGAGAAAGAC	0.381			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			---	41	---	---	11	---					
AGPAT9	84803	broad.mit.edu	37	4	84509367	84509367	+	Frame_Shift_Del	DEL	A	-	-	rs140308062	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:84509367delA	uc003how.3	+	5	777	c.559delA	c.(559-561)aaafs	p.K187fs	AGPAT9_uc003hox.3_Frame_Shift_Del_p.K187fs|AGPAT9_uc003hoy.3_Frame_Shift_Del_p.K187fs	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	187					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTCAGCCTCAAAAACTGGCT	0.413													---	155	---	---	7	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr6:88144700delA	uc003plv.3	+	10	1546	c.1423delA	c.(1423-1425)aaafs	p.K475fs	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Frame_Shift_Del_p.K475fs|C6orf165_uc003plw.3_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	475								p.A474D(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													---	115	---	---	9	---					
TBC1D28	254272	broad.mit.edu	37	17	18539791	18539791	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:18539791delC	uc002gud.2	-	9	1029	c.617delG	c.(616-618)ggtfs	p.G206fs		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	206	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G205W(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGTTGCAACACCCCCGAGAGA	0.532													---	176	---	---	10	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	72	---	---	10	---					
NFIX	4784	broad.mit.edu	37	19	13192587	13192589	+	In_Frame_Del	DEL	ACC	-	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:13192587_13192589delACC	uc010xmx.2	+	7	1249_1251	c.1196_1198delACC	c.(1195-1200)taccac>tac	p.H403del	NFIX_uc002mwd.3_In_Frame_Del_p.H395del|NFIX_uc002mwe.3_In_Frame_Del_p.H387del|NFIX_uc002mwf.3_In_Frame_Del_p.H357del|NFIX_uc002mwg.2_In_Frame_Del_p.H394del			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	395					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCATCCGCTACCACCACCACCA	0.645											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	119	---	---	7	---					
