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
OBSCN	84033	broad.mit.edu	37	1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:228462137C>T	uc009xez.1	+	18	5719	c.5675C>T	c.(5674-5676)aCc>aTc	p.T1892I	OBSCN_uc001hsn.3_Missense_Mutation_p.T1892I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1892	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.T1892I(2)|p.T2175I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCAGCTCACCGTCAGTGGT	0.642000													6	32					0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:11417404A>G	uc002mqv.1	+	4	725	c.575A>G	c.(574-576)gAt>gGt	p.D192G	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	192						integral to membrane		p.D192G(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GACGGACGCGATGTGTCTCCA	0.473000													5	78					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684282	41684282	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:41684282C>T	uc002yyq.1	-	8	2240	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	596	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P596P(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATGAAAGGCGGAACTGCAA	0.448000													5	26					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35668590	35668590	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr20:35668590C>T	uc002xgi.3	-	13	1948	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	RBL1_uc002xgj.1_Silent_p.K623K	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	623	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.K623K(2)|p.V622F(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCGAACTTCCTTGACTCTTG	0.418000													22	222					0	0	1	0	0
AK124973	0	broad.mit.edu	37	3	196051041	196051041	+	Nonstop_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:196051041G>T	uc003fwk.1	+	1	429	c.306G>T	c.(304-306)taG>taT	p.*102Y	TM4SF19_uc003fwj.3_Intron|TM4SF19_uc010iad.2_Intron|TM4SF19_uc003fwl.2_Intron|TM4SF19_uc021xjs.1_Intron|TM4SF19_uc011btv.2_Intron					Homo sapiens cDNA FLJ42983 fis, clone BRTHA2008316.																		CAAGATGCTAGGATGTGTGAC	0.507000													4	63					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67809157	67809157	+	Missense_Mutation	SNP	C	C	T	rs142662778	byFrequency	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:67809157C>T	uc003xwz.4	+	11	1760	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	MCMDC2_uc011lev.2_Missense_Mutation_p.A530V|MCMDC2_uc011lew.2_Missense_Mutation_p.A461V|MCMDC2_uc011lex.2_Missense_Mutation_p.A288V|MCMDC2_uc003xwy.4_Missense_Mutation_p.A530V	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	530					DNA replication		ATP binding|DNA binding	p.A525V(1)|p.A530V(1)		endometrium(2)|kidney(2)|lung(5)	9						CTGTTTTATGCGGCTTCTAGA	0.398000													5	269					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:47163433A>C	uc003cqv.3	-	2	2746	c.2660T>G	c.(2659-2661)tTg>tGg	p.L887W	SETD2_uc003cqs.3_Missense_Mutation_p.L898W	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.L395W(1)|p.S887fs*4(1)|p.L898W(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCGCATTTCAAGAGAGTTAG	0.378000			"""N, F, S, Mis"""		clear cell renal carcinoma								8	273					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	182					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101826202	101826202	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:101826202G>T	uc004ejf.1	+	16		c.3342_splice	c.e16+1							Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						CTATTCTCCAGGTGAGATCTG	0.498000													6	9					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139847394	139847394	+	Silent	SNP	G	G	A	rs62580418		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr9:139847394G>A	uc004ckc.3	+	1	173	c.165G>A	c.(163-165)ccG>ccA	p.P55P	LCN12_uc022bpx.1_Silent_p.P55P|LCN12_uc004ckb.3_Silent_p.P55P			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	55					lipid metabolic process	extracellular region	binding|transporter activity	p.P55P(2)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCTTCAGGCCGGAGCACAGGG	0.637000													39	233					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954939	33954939	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr15:33954939C>T	uc001zhi.3	+	34	5278	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RYR3_uc010bar.3_Silent_p.G1736G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1736	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1736G(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGTCATGGGCGTGTTTGATG	0.567000													20	115					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:55537506A>T	uc003xsd.1	+	3	1212	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	355					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.K355I(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCAGTAAAACTGGTCCT	0.353000													10	60					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43505804	43505804	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:43505804G>A	uc002lbm.3	-	13	2718	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	EPG5_uc002lbo.1_Missense_Mutation_p.A873V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	873					autophagy			p.A873V(2)|p.A873A(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCGAATCACCGCTATCTCAGA	0.353000													18	170					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	754	754	+	RNA	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrGL000237.1:754C>G	uc011mgu.1	-	1		c.464G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		TGCGCCGACACCAAAGGAATC	0.612000													2	6					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552177	57552177	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr16:57552177G>C	uc002elw.3	-	5	1264	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	351								p.Q351E(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTTTCGGCCTGCAGCCGCTCC	0.682000													6	46					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:50939044G>A	uc002psf.2	+	2	172	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	41					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.E41K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCCACCCGAGGACCAGTC	0.627000													8	20					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352238	44352238	+	Silent	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:44352238C>G	uc002oxr.4	+	6	1753	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	ZNF283_uc002oxp.4_Silent_p.T356T	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T495T(2)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCGGAAAGACCTTTTGTAGTG	0.413000													15	218					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:41596036G>A	uc002opt.3	+	2	437	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	143					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.R143H(2)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GTGGGCAAGCGCGGCATCGAG	0.697000													10	50					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:18891209C>G	uc001rdy.3	+	0	165	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438000													4	201					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64557603	64557603	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr14:64557603G>A	uc001xgl.3	+	59	12043	c.11813G>A	c.(11812-11814)cGt>cAt	p.R3938H	SYNE2_uc001xgm.3_Missense_Mutation_p.R3938H|SYNE2_uc021ruh.1_Missense_Mutation_p.R3971H|SYNE2_uc010apy.3_Missense_Mutation_p.R323H|SYNE2_uc010apx.1_Missense_Mutation_p.R330H	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3938					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.R3938H(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATATACGTCCCATGAAG	0.358000													16	98					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505835	195505835	+	Missense_Mutation	SNP	C	C	T	rs58500707	by1000genomes	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:195505835C>T	uc021xjp.1	-	1	12772	c.12616G>A	c.(12616-12618)Gcc>Acc	p.A4206T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	969					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A4206T(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.597000													3	14					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:94940824A>C	uc003uns.3	-	4	533	c.436T>G	c.(436-438)Ttt>Gtt	p.F146V	PON1_uc011kih.2_Missense_Mutation_p.F146V	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	146					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.F146V(2)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTTCTTGAAATTTAAACAAC	0.353000													34	177					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113729393	113729393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr13:113729393C>T	uc001vsu.3	+	10	1369	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	MCF2L_uc001vsq.3_Missense_Mutation_p.R457C|MCF2L_uc010tjr.2_Missense_Mutation_p.R400C|MCF2L_uc001vsr.3_Missense_Mutation_p.R404C|MCF2L_uc001vss.4_Missense_Mutation_p.R398C|MCF2L_uc010tjs.2_Missense_Mutation_p.R398C|MCF2L_uc001vst.1_Missense_Mutation_p.R362C	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	430					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R404C(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGACTCCATCCGCCCAAAGTG	0.662000													21	138					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235840808	235840808	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:235840808C>T	uc001hxj.2	-	48	11087	c.10912G>A	c.(10912-10914)Gga>Aga	p.G3638R	LYST_uc001hxi.2_Missense_Mutation_p.G862R	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3638					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.G3638R(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGCAGGTTCCGTCTCTGCTC	0.338000													34	237					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27078323	27078323	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:27078323G>A	uc002ylp.1	+	6	1275	c.730G>A	c.(730-732)Gta>Ata	p.V244I	JAM2_uc011ace.1_Missense_Mutation_p.V244I|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.V208I	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	244					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.V244I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATAGCAGCCGTAGTAGTTGT	0.393000													16	121					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48059590	48059590	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:48059590C>T	uc002rwe.3	-	10	1369	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	FBXO11_uc010fbl.3_Silent_p.A348A|FBXO11_uc002rwg.2_Silent_p.A432A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A232A	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	432					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.A348A(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCAGCTAACGCATTATTGG	0.328000			"""Mis, F, D"""		DLBCL								18	128					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:114319949G>C	uc001edq.3	-	3	1577	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	514						nucleus		p.S514C(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGAGGCTAGAAAGTGTACC	0.428000													40	188					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:231377146A>G	uc001hup.4	+	0	228	c.22A>G	c.(22-24)Aac>Gac	p.N8D	C1orf131_uc001hul.3_5'Flank|C1orf131_uc001hum.3_5'Flank|C1orf131_uc001hun.1_5'Flank|C1orf131_uc010pwd.1_5'Flank|C1orf131_uc001huo.1_5'Flank|GNPAT_uc009xfo.1_5'UTR|GNPAT_uc009xfp.3_Missense_Mutation_p.N8D	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	8	Poly-Ser.				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.N8D(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGTTCATCTAACTCTTATTT	0.617000													26	162					0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090151	56090151	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:56090151C>T	uc002qlh.3	-	1	908	c.855G>A	c.(853-855)ctG>ctA	p.L285L	ZNF579_uc021vby.1_Silent_p.L285L	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L285L(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGGCGCGACAGGGACCAGG	0.731000													4	38					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8095843	8095843	+	RNA	SNP	C	C	T	rs62495078		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:8095843C>T	uc011kwt.2	+	7		c.1038C>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GAAGAGCAGACACTGCCATGG	0.602000													4	34					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204545	11204545	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:11204545T>C	uc004cup.1	-	4	1957	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.M362V|ARHGAP6_uc004cum.1_Missense_Mutation_p.M159V|ARHGAP6_uc004cun.1_Missense_Mutation_p.M182V|ARHGAP6_uc010neb.1_Missense_Mutation_p.M184V|ARHGAP6_uc011mif.1_Missense_Mutation_p.M159V	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	362					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding	p.M362V(3)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTGACATGGCACCCTGC	0.443000													58	123					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:143790837C>T	uc010fnm.3	+	12	1204	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KYNU_uc002tvl.3_Nonsense_Mutation_p.R330*	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	330					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.R330*(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTGTGGATTCCGAATTTCAAA	0.373000													63	486					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242091	126242091	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:126242091C>T	uc003ifj.4	+	0	4525	c.4525C>T	c.(4525-4527)Cgg>Tgg	p.R1509W		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1509	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1509W(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAACTAGACGGTATGCTTT	0.403000													52	285					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197104365	197104365	+	Silent	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:197104365G>C	uc001gtu.3	-	4	2291	c.2034C>G	c.(2032-2034)ccC>ccG	p.P678P	ASPM_uc001gtv.3_Silent_p.P678P|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	678					mitosis	cytoplasm|nucleus	calmodulin binding	p.P678P(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGGGTGTCTGGGAATATCTA	0.333000													12	100					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472377	71472377	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:71472377C>T	uc003hfl.3	+	12	1375	c.1274C>T	c.(1273-1275)aCa>aTa	p.T425I		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	425					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.T425I(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTCTGCAAACATCCATGCCA	0.488000													22	93					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859537	132859537	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:132859537G>A	uc011eci.2	+	0	111	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	37						plasma membrane	G-protein coupled receptor activity	p.A37T(1)				Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCCTCTACGCCGTCCTTGG	0.478000													12	63					0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42824964	42824964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:42824964C>A	uc003osn.1	+	9	2395	c.2244C>A	c.(2242-2244)gaC>gaA	p.D748E	KIAA0240_uc011duw.1_Missense_Mutation_p.D748E|KIAA0240_uc003osp.1_Missense_Mutation_p.D748E	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	748								p.D748E(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CTGAAGAAGACTTGAGAAAAG	0.542000													20	131					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142675	35142675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:35142675C>T	uc003teq.1	-	18	1988	c.881G>A	c.(880-882)cGt>cAt	p.R294H	DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ATTATCAAAACGAACTCTGCG	0.338000													3	73					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:231222557G>T	uc010fxm.1	+	2	236	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	49	HSR.					nucleus	DNA binding|metal ion binding	p.V49F(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGAGGGACTTGTCTATGACAC	0.423000													14	454					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505838	195505838	+	Missense_Mutation	SNP	G	G	C	rs59101491		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:195505838G>C	uc021xjp.1	-	1	12769	c.12613C>G	c.(12613-12615)Cac>Gac	p.H4205D	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205D(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.597000													2	13					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106974254	106974254	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:106974254C>T	uc001kyi.1	+	17	2657	c.2430C>T	c.(2428-2430)acC>acT	p.T810T	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	810						integral to membrane	neuropeptide receptor activity	p.T810T(2)|p.T810I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTACACCGCCAAGGCCC	0.537000													4	97					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:31850727G>T	uc003nxz.1	-	23	3064	c.3054C>A	c.(3052-3054)aaC>aaA	p.N1018K	EHMT2_uc003nxx.1_Missense_Mutation_p.N216K|EHMT2_uc003nxy.1_Missense_Mutation_p.N816K|EHMT2_uc011don.1_Missense_Mutation_p.N1041K|EHMT2_uc003nya.1_Missense_Mutation_p.N984K	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1018	Pre-SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.N1018K(2)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCACGCCTGGTTACACTCGA	0.572000													4	76					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943288	121943288	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:121943288G>A	uc003vkd.3	-	1	953	c.879C>T	c.(877-879)tgC>tgT	p.C293C	FEZF1_uc003vkc.3_Silent_p.C243C|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	293					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C293C(1)|p.C289C(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACCTTTTCCGCACACTTTGC	0.463000													25	134					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:40027846T>C	uc001cdl.2	-	13	2690	c.1792A>G	c.(1792-1794)Atg>Gtg	p.M598V	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_Missense_Mutation_p.M582V|PABPC4_uc001cdm.2_Missense_Mutation_p.M569V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	582	PABC.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473000													5	141					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:57329201G>T	uc002qnu.2	-	5	1126	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.Q259K|PEG3_uc002qnw.2_Missense_Mutation_p.Q135K|PEG3_uc002qnx.2_Missense_Mutation_p.Q133K|PEG3_uc010etr.2_Missense_Mutation_p.Q259K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	259					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q259K(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCAAGCTGCACTCCTGGT	0.488000													5	41					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820712	55820712	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:55820712C>T	uc010spm.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I225I(2)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAATCCCCTCAGCAC	0.363000													18	108					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112995	108112995	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:108112995G>A	uc003dxa.1	-	36	5259	c.5202C>T	c.(5200-5202)agC>agT	p.S1734S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1734						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.S1734S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCTGAGGAGGCTTGTGTTCT	0.478000													30	150					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:16475005T>C	uc003jfs.3	-	8	1426	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	FAM134B_uc003jfr.3_Missense_Mutation_p.T306A	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	Homo sapiens family with sequence similarity 134, member B (FAM134B), transcript variant 1, mRNA.	447					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		p.T447A(2)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TCAGTGTCTGTGTCCTCTTCT	0.493000													21	133					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48327660	48327660	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:48327660G>A	uc003toq.2	+	19	8964	c.8940G>A	c.(8938-8940)gcG>gcA	p.A2980A	ABCA13_uc010kys.1_Silent_p.A54A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2980					transport	integral to membrane	ATP binding|ATPase activity	p.A2980A(2)|p.A2925A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACTTTGGCGCAGGACCACT	0.438000													55	221					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:106524649T>C	uc003vdv.4	+	8	2895	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_uc003vdu.3_Missense_Mutation_p.V937A|PIK3CG_uc003vdw.3_Missense_Mutation_p.V937A	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	937	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V937A(3)|p.C936S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTACTGTGTGGCAACCTTT	0.368000													48	267					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:196695918C>A	uc001gtj.4	+	13	2324	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	695	Sushi 12.				complement activation, alternative pathway	extracellular space		p.P695H(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGATATACCTGAACTTGAA	0.353000													29	169					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:21962615T>A	uc021pny.1	+	9	1388	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_uc001iqs.3_Missense_Mutation_p.V463E|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.V463E|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398000			T	"""MLL, PICALM, CDK6"""	AL								7	340					0	0	1	0	0
C16orf13	84326	broad.mit.edu	37	16	685626	685626	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr16:685626delG	uc002chw.1	-	1	403	c.346delC	c.(346-348)ctgfs	p.L116fs	C16orf13_uc002chv.1_Frame_Shift_Del_p.L116fs|C16orf13_uc002chz.1_Frame_Shift_Del_p.L116fs|C16orf13_uc002cia.1_Intron|C16orf13_uc002cib.1_Intron|C16orf13_uc021szw.1_3'UTR|AK301549_uc010uuk.2_5'Flank	NM_001040160	NP_001035250	Q96S19	CP013_HUMAN	Homo sapiens chromosome 16 open reading frame 13 (C16orf13), transcript variant 2, mRNA.	116										large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGCAGCGCAGGGGGCTGACA	0.657													2	4	---	---	---	---					
AMZ2P1	201283	broad.mit.edu	37	17	62968909	62968909	+	RNA	DEL	T	-	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:62968909delT	uc002jez.3	-	2		c.513delA			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		TCTCATTGACTCTAAAGGAAC	0.358													11	56	---	---	---	---					
