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
SYAP1	94056	broad.mit.edu	37	X	16773188	16773188	+	Silent	SNP	T	C	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chrX:16773188T>C	uc004cxp.3	+	5	837	c.696T>C	c.(694-696)aaT>aaC	p.N232N	SYAP1_uc011miv.2_Silent_p.N198N	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	Homo sapiens synapse associated protein 1 (SYAP1), transcript variant 1, mRNA.	232										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAAGAGCAATGGCAGAGAGC	0.522000														42			36		0	0	0.00058488	0	0
UAP1L1	91373	broad.mit.edu	37	9	139972976	139972976	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr9:139972976A>G	uc010ncb.3	+	2	549	c.517A>G	c.(517-519)Act>Gct	p.T173A	UAP1L1_uc004cla.4_Missense_Mutation_p.T50A	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 (UAP1L1), mRNA.	173							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGCGAGTTCACTCTGGGGCC	0.662000														62			15		0	0	0.000958276	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869234	22869234	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr22:22869234C>A	uc002zwe.3	-	1	974	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.D241Y	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCTCTGGATCTGTAAGATTG	0.433000														72			8		1.49906e-05	0.00134243	0.000219431	1	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	C	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000														65			3		0	0	0.00024832	0	0
ARMC8	25852	broad.mit.edu	37	3	137964017	137964017	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr3:137964017C>T	uc003esa.1	+	12	1451	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	ARMC8_uc003erw.3_Missense_Mutation_p.R362W|ARMC8_uc003erx.3_Missense_Mutation_p.R362W|ARMC8_uc003ery.3_Missense_Mutation_p.R334W|ARMC8_uc011bmf.1_Missense_Mutation_p.R345W|ARMC8_uc011bmg.1_Missense_Mutation_p.R309W|ARMC8_uc011bmh.1_Missense_Mutation_p.R303W|ARMC8_uc003esb.1_Missense_Mutation_p.R334W|ARMC8_uc003esc.1_Missense_Mutation_p.R134W	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	376							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGAAGACATCCGGAAGAAGGT	0.517000														78			6		0	0	3.59834e-05	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33596055	33596055	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr5:33596055T>G	uc003jia.1	-	16	2801	c.2638A>C	c.(2638-2640)Aag>Cag	p.K880Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.K795Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	880	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACAAGCCTTTTCATGGCAC	0.507000										HNSCC(64;0.19)				108			22		0	0	0.000720815	0	0
ULBP2	80328	broad.mit.edu	37	6	150263283	150263283	+	Silent	SNP	T	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr6:150263283T>G	uc003qno.3	+	0	148	c.75T>G	c.(73-75)gcT>gcG	p.A25A	ULBP2_uc011eeh.1_Silent_p.A25A|ULBP2_uc010kij.3_Silent_p.A25A	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	25					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGTCCCGGGCTGGGCGAGCCG	0.657000														13			3		0	0	6.40141e-05	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247924	179247924	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr2:179247924C>G	uc002uly.3	+	17	2414	c.1870C>G	c.(1870-1872)Ctg>Gtg	p.L624V	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.L599V|OSBPL6_uc010zfe.2_Missense_Mutation_p.L568V|OSBPL6_uc002ulz.3_Missense_Mutation_p.L563V|OSBPL6_uc002uma.3_Missense_Mutation_p.L603V	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	599					lipid transport		lipid binding	p.R624H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCTCAACACCCTGCAGCACCT	0.458000														29			22		0	0	0.000295444	0	0
PROS1	5627	broad.mit.edu	37	3	93629510	93629510	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr3:93629510G>A	uc003drb.4	-	3	640	c.299C>T	c.(298-300)gCa>gTa	p.A100V	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	100	Thrombin-sensitive.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGACTGACGTGCAGCAGTGAA	0.348000														44			5		0	0	3.59834e-05	0	0
EYA1	2138	broad.mit.edu	37	8	72129012	72129012	+	Silent	SNP	C	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr8:72129012C>G	uc003xyu.3	-	13	1915	c.1275G>C	c.(1273-1275)cgG>cgC	p.R425R	EYA1_uc003xyt.4_Silent_p.R392R|EYA1_uc003xyr.4_Silent_p.R390R|EYA1_uc010lzf.3_Silent_p.R352R|EYA1_uc003xys.4_Silent_p.R425R|EYA1_uc011lfe.2_Silent_p.R419R|EYA1_uc003xyv.3_Silent_p.R303R	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	425					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCACACCGCCCCGTACACCAG	0.448000														99			3		0	0	0.00024832	0	0
BMPR2	659	broad.mit.edu	37	2	203395530	203395530	+	Silent	SNP	T	C	C	rs149225691	byFrequency	TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr2:203395530T>C	uc002uzf.4	+	7	2129	c.981T>C	c.(979-981)ccT>ccC	p.P327P	BMPR2_uc010ftr.3_Silent_p.P327P	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	327	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATTATAAACCTGCAATTTCCC	0.318000														36			3		0	0	6.4e-05	0	0
MYO15A	51168	broad.mit.edu	37	17	18025392	18025392	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr17:18025392C>T	uc021trm.1	+	0	3497	c.3278C>T	c.(3277-3279)cCc>cTc	p.P1093L	MYO15A_uc021trl.1_Missense_Mutation_p.P1093L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1093	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTTGGCGCCCATCAGGGCC	0.677000														76			8		0	0	0.000157383	0	0
PSG2	5670	broad.mit.edu	37	19	43576061	43576061	+	Missense_Mutation	SNP	C	T	T	rs1135795		TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr19:43576061C>T	uc002ovr.3	-	3	927	c.755G>A	c.(754-756)cGt>cAt	p.R252H	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	252	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.R252H(2)|p.R252G(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATCTCCTGAACGGTAATTGGT	0.473000														207			9		0	0	0.000442599	0	0
ZNF404	342908	broad.mit.edu	37	19	44378055	44378055	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr19:44378055A>G	uc002oxs.4	-	1	302	c.302T>C	c.(301-303)gTg>gCg	p.V101A		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAAACATCCCACTTTAGGTCT	0.333000														265			13		0	0	0.000151284	0	0
C19orf63	284361	broad.mit.edu	37	19	50981244	50981244	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr19:50981244A>G	uc002psl.3	+	1	239	c.173A>G	c.(172-174)cAc>cGc	p.H58R	FAM71E1_uc002psg.3_5'Flank|FAM71E1_uc002psh.3_5'Flank|FAM71E1_uc002psi.3_5'Flank|C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Missense_Mutation_p.H58R	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	58						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		CTGCTGGAGCACTCATTTGAG	0.607000														63			18		0	0	0.000958276	0	0
VAT1L	57687	broad.mit.edu	37	16	78011538	78011538	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr16:78011538G>T	uc002ffg.1	+	8	1303	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	402							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGAAGAGGAGGAGGACCACG	0.517000														39			7		2.74318e-10	2.5443e-08	0.000442599	1	0
KIAA0319L	79932	broad.mit.edu	37	1	36020070	36020070	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr1:36020070T>C	uc001byx.3	-	1	281	c.23A>G	c.(22-24)aAg>aGg	p.K8R	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.K8R	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	8						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGATTTGGCTTGACTCCCAG	0.433000														114			4		0	0	0.00024832	0	0
TM9SF4	9777	broad.mit.edu	37	20	30723909	30723909	+	Silent	SNP	A	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr20:30723909A>G	uc002wxj.2	+	2	397	c.162A>G	c.(160-162)ctA>ctG	p.L54L	TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Silent_p.L37L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	54						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAACCCAGCTACCTTATGAAT	0.483000														75			3		0	0	0.000602214	0	0
CASC3	22794	broad.mit.edu	37	17	38324637	38324637	+	Silent	SNP	C	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr17:38324637C>G	uc010cwt.1	+	10	2227	c.1932C>G	c.(1930-1932)ccC>ccG	p.P644P	CASC3_uc002hue.3_Silent_p.P644P	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	644	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CACTGCCTCCCCCACCACCGC	0.473000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			3		0	0	0.00024832	0	0
PLAT	5327	broad.mit.edu	37	8	42037495	42037495	+	Silent	SNP	G	A	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr8:42037495G>A	uc003xos.2	-	11	1521	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	PLAT_uc010lxf.1_Silent_p.L355L|PLAT_uc010lxg.1_Silent_p.L263L|PLAT_uc003xot.2_Silent_p.L392L|PLAT_uc011lcm.1_Silent_p.L349L|PLAT_uc011lcn.1_Silent_p.L312L	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	438	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAGTCCGGCAGCTGCAGGTCC	0.662000														17			6		0	0	8.12818e-05	0	0
NLRX1	79671	broad.mit.edu	37	11	119051968	119051968	+	Splice_Site	SNP	T	A	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr11:119051968T>A	uc001pvu.3	+	8	2569	c.2354_splice	c.e8+2	p.R785_splice	NLRX1_uc010rzc.1_Nonstop_Mutation_p.*608R|NLRX1_uc001pvv.3_Splice_Site_p.R785_splice|NLRX1_uc001pvw.3_Splice_Site_p.R785_splice|NLRX1_uc001pvx.3_Splice_Site_p.R785_splice	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	785	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACACTGCGGTGAGTGACCTG	0.582000														35			16		0	0	0.000308642	0	0
SDHA	6389	broad.mit.edu	37	5	224586	224586	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr5:224586G>A	uc011clv.1	+	2	377	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SDHA_uc003jao.4_Missense_Mutation_p.A88T|SDHA_uc011clw.2_Missense_Mutation_p.A88T	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	88					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTTAATACAGCATGTGTTAC	0.547000									Familial Paragangliomas					113			22		0	0	0.000295444	0	0
PCF11	51585	broad.mit.edu	37	11	82882883	82882883	+	Silent	SNP	A	G	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr11:82882883A>G	uc001ozx.4	+	8	4029	c.3684A>G	c.(3682-3684)ccA>ccG	p.P1228P		NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1228					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTGCTCAGCCAGTAGCTTTTG	0.328000														123			9		0	0	0.000274275	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123936	26123936	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr6:26123936A>C	uc003ngk.4	-	0	219	c.197T>G	c.(196-198)tTc>tGc	p.F66C	HIST1H2BC_uc003ngl.3_Missense_Mutation_p.F66C|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.	66					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S65Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTCGTTAACGAAAGAATTCAT	0.557000														184			12		0	0	0.000151284	0	0
SCN1A	6323	broad.mit.edu	37	2	166904262	166904262	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr2:166904262A>T	uc002udo.4	-	9	1272	c.1045T>A	c.(1045-1047)Tat>Aat	p.Y349N	SCN1A_uc010fpk.3_Missense_Mutation_p.Y349N|SCN1A_uc021vsb.1_Missense_Mutation_p.Y349N	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	349						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACACACATATATCCCTCTGGA	0.408000														118			16		0	0	0.00074312	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762205	23762205	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr9:23762205T>C	uc003zpu.3	-	1	303	c.28A>G	c.(28-30)Act>Gct	p.T10A	ELAVL2_uc003zps.3_Missense_Mutation_p.T10A|ELAVL2_uc003zpt.3_Missense_Mutation_p.T10A|ELAVL2_uc003zpv.3_Missense_Mutation_p.T10A|ELAVL2_uc003zpw.3_Missense_Mutation_p.T10A	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	10					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTATTGCAAGTTGGCCCATTA	0.403000														270			66		0	0	0.000781405	0	0
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													---	3	---	---	4	---					
FNBP4	23360	broad.mit.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	GGA	-	-			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr11:47744589_47744591delGGA	uc009ylv.3	-	14	2895_2897	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P	FNBP4_uc001ngj.3_In_Frame_Del_p.821_822PP>P	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	914	Pro-rich.							p.P914P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458													---	4	---	---	2	---					
FIGNL2	401720	broad.mit.edu	37	12	52215124	52215124	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr12:52215124delC	uc001rzc.3	-	1	1246	c.1074delG	c.(1072-1074)gggfs	p.G358fs		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	Homo sapiens fidgetin-like 2 (FIGNL2), mRNA.	358							ATP binding|nucleoside-triphosphatase activity								BRCA - Breast invasive adenocarcinoma(357;0.135)		GCACGGCGAACCCCCCACGAG	0.716													---	4	---	---	2	---					
abParts	0	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	-	-	rs2003432	by1000genomes	TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr14:106573362_106573364delACC	uc021ser.1	-	1890		c.35331_35333delGGT								Parts of antibodies, mostly variable regions.																		ATATGGTACTACCACTACTACTA	0.522													---	418	---	---	7	---					
