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
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:85554507C>T	ENST00000377386.3	-	2	810	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.572000													6	909					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													3	13					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			33	50					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443000													6	322					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35700005	35700005	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr9:35700005T>C	ENST00000314888.9	-	50	7087	c.6734A>G	c.(6733-6735)aAt>aGt	p.N2245S	TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2245					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGTAGCCATTGGCACACTC	0.567000													24	37					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215593563	215593563	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:215593563G>A	ENST00000260947.4	-	11	2305	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	BARD1_ENST00000432456.1_Missense_Mutation_p.A95V|BARD1_ENST00000449967.2_3'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	724	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCGGGTCTCGCATGGTATGC	0.498000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	32					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197002362	197002362	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:197002362A>G	ENST00000263955.4	-	8	1214	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	STK17B_ENST00000409228.1_Missense_Mutation_p.S310P	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	310	Poly-Ser.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GTTTGAGAGGAACTGGAAGTT	0.413000													25	76					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085509	64085509	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr3:64085509C>T	ENST00000295902.6	-	8	2338	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E641K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	585						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCAGCTTCTCAGACACATTC	0.562000													4	160					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27523078	27523078	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr16:27523078T>C	ENST00000356183.4	-	7	1133	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	373						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTGAGGTCGTAGGTCTGTGT	0.507000													26	64					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898432	47898432	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:47898432C>A	ENST00000289672.2	-	27	4251	c.4201G>T	c.(4201-4203)Gct>Tct	p.A1401S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1401	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGCCTTGAGCAAGGAGTGCC	0.488000													16	38					1.62849e-17	1.71652e-17	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113362081	113362081	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr4:113362081A>T	ENST00000458497.1	+	15	3826	c.3547A>T	c.(3547-3549)Acc>Tcc	p.T1183S	ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1183	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGTTGGGTAACCGGTAATGG	0.378000													27	65					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101281047	101281047	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr8:101281047A>G	ENST00000519449.1	-	6	1473	c.1157T>C	c.(1156-1158)aTg>aCg	p.M386T	RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	386					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCAATAATCATTGCAGGAAT	0.403000													42	79					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96798922	96798922	+	Silent	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr14:96798922C>T	ENST00000359933.4	-	9	2171	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	426										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGGGGGGTCCCCAAGGGGTG	0.398000													29	62					0	0	1	0	0
NXT2	55916	broad.mit.edu	37	X	108784843	108784843	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chrX:108784843T>C	ENST00000218004.1	+	4	509	c.407T>C	c.(406-408)gTt>gCt	p.V136A	NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000372106.1_Missense_Mutation_p.V81A|NXT2_ENST00000372107.1_Missense_Mutation_p.V53A	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	81	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGCCAACCAGTTCATGGTAAG	0.393000													34	13					0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249142441	249142441	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:249142441G>A	ENST00000306562.3	+	4	1714	c.968G>A	c.(967-969)cGc>cAc	p.R323H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	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)			TTCAGCGACCGCTCGGACCTC	0.682000													2	0					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201681960	201681960	+	Silent	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:201681960A>G	ENST00000409600.1	+	6	989	c.534A>G	c.(532-534)aaA>aaG	p.K178K	BZW1_ENST00000409226.1_Silent_p.K182K|BZW1_ENST00000452790.2_Silent_p.K210K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATTTGGTTAAAGAAGGTAATC	0.398000													22	61					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26204068	26204068	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:26204068C>T	ENST00000264712.3	-	1	1298	c.719G>A	c.(718-720)gGc>gAc	p.G240D	KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	240	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGAGCTTGCCCACTCGGAT	0.627000													3	46					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107414431	107414431	+	Silent	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:107414431G>A	ENST00000340010.5	-	17	2125	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	647	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATGAGGCTGTGGAGGCTGA	0.433000													37	44					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													3	47					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462																											ACAACTGGGCCAAGGGACGCT	0.577000													3	10					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720670	116720670	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:116720670T>C	ENST00000331677.3	+	3	701	c.257T>C	c.(256-258)cTc>cCc	p.L86P	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.L86P|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	86					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGGAATACCTCCCTCCCTGG	0.582000													3	30					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933245	43933245	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr20:43933245C>T	ENST00000537548.1	-	4	510	c.266G>A	c.(265-267)cGc>cAc	p.R89H	MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.R89H|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000360607.5_Missense_Mutation_p.R89H			O95460	MATN4_HUMAN	matrilin 4	89	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGAACGCGCGGAGAGGGAA	0.642000													5	9					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42399848	42399848	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:42399848C>A	ENST00000225308.8	-	5	413	c.239G>T	c.(238-240)tGc>tTc	p.C80F	SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F|SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F|SLC25A39_ENST00000377095.5_Missense_Mutation_p.C88F|SLC25A39_ENST00000586016.1_Intron	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	88					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)		ACCATTTGGGCACAGGTACAG	0.587000													8	37					0.00307968	0.00316072	1	1	0
OR7C2	26658	broad.mit.edu	37	19	15052535	15052535	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:15052535C>T	ENST00000248072.3	+	1	235	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACGACTGTCCCAAAGATGCT	0.458000													6	69					0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493000													5	44					0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446327	43446327	+	Silent	SNP	G	G	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr5:43446327G>C	ENST00000500337.2	-	5	976	c.645C>G	c.(643-645)gtC>gtG	p.V215V	C5orf28_ENST00000397080.3_Silent_p.V215V|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000510130.1_Silent_p.V113V			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	215						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GTGTACCTCAGACATCAATAC	0.333000													30	58					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718132	50718132	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr22:50718132G>A	ENST00000449103.1	-	27	4456	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V			O15031	PLXB2_HUMAN	plexin B2	1439					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTGTACCGCATCCACCGG	0.617000													4	110					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													3	24					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652633	1652633	+	Silent	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:1652633G>A	ENST00000252804.4	-	17	2969	c.2919C>T	c.(2917-2919)gcC>gcT	p.A973A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	973					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGGTCCCCGGCCAGGAAGC	0.692000													2	0					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007643	161007643	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:161007643A>T	ENST00000447678.1	-	26	4087	c.3967T>A	c.(3967-3969)Tgc>Agc	p.C1323S	LPA_ENST00000316300.5_Missense_Mutation_p.C1323S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3831	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATTCCTGCAGTAGTTCCTG	0.483000													30	24					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147514	59147514	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:59147514C>T	ENST00000472487.1	-	8	1241	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	401	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTTAGCTTGGCGCCCCTCAAA	0.323000													3	49					0	0	1	0	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													2	4	---	---	---	---					
DUSP27	92235	broad.mit.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:167095398_167095400delGAG	ENST00000361200.2	+	6	1196_1198	c.1030_1032delGAG	c.(1030-1032)del	p.E348del	DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	348					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655													3	6	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:102883498delA	ENST00000312132.4	-	0	2616																											GTACCACTGTAAAAAAAAAAA	0.284													4	9	---	---	---	---					
KRTAP4-11	653240	broad.mit.edu	37	17	39273997	39273998	+	Frame_Shift_Del	DEL	CA	CA	-	rs150942763	by1000genomes	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:39273997_39273998delCA	ENST00000391413.2	-	1	608_609	c.570_571delTG	c.(568-573)tgccfs	p.CA190fs		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	190						keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAAGAGGAGGCACAGCACAAGG	0.599													2	4	---	---	---	---					
FASN	2194	broad.mit.edu	37	17	80050662	80050662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:80050662delG	ENST00000306749.2	-	7	1023	c.805delC	c.(805-807)agfs	p.Q269fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	269	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTGCTCCTGGATATCCCCT	0.677													2	4	---	---	---	---