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	chromosome_name	start	stop	reference	variant	type	gene_name	transcript_name	transcript_species	transcript_source	transcript_version	strand	transcript_status	trv_type	c_position	amino_acid_change	ucsc_cons	domain	all_domains	deletion_substructures	transcript_error	default_gene_name	gene_name_source	 ensembl_gene_id	tier	dbSNP	GMAF	n_ref_count	n_alt_count	normal_vaf	t_ref_count	t_alt_count	tumor_vaf	n_ref_count_val	n_alt_count_val	normal_vaf_val	t_ref_count_val	t_alt_count_val	tumor_vaf_val
CHD5	0	genome.wustl.edu	37	1	6209365	6209365	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	1	6209365	6209365	C	T	SNP	CHD5	ENST00000262450	human	ensembl	74_37	-1	known	missense	c.1102	p.V368I	1.000	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	-	no_errors	CHD5	HGNC	ENSG00000116254	tier1	-	-	30	0	0.00	29	24	45.28	32	0	0.00	24	14	36.84
BTN2A1	0	genome.wustl.edu	37	6	26466202	26466202	+	Splice_Site	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	6	26466202	26466202	G	A	SNP	BTN2A1	ENST00000312541	human	ensembl	74_37	+1	known	splice_site	c.955+1	e5+1	0.995	-	-	-	no_errors	BTN2A1	HGNC	ENSG00000112763	tier1	rs145303049	GMAF=0.0005	81	0	0.00	56	50	47.17	49	0	0.00	47	15	24.19
NDNF	0	genome.wustl.edu	37	4	121958270	121958270	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	4	121958270	121958270	C	T	SNP	NDNF	ENST00000379692	human	ensembl	74_37	-1	known	missense	c.856	p.V286I	0.956	superfamily_Fibronectin_type3,smart_Fibronectin_type3	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	-	no_errors	NDNF	HGNC	ENSG00000173376	tier1	-	-	18	0	0.00	24	5	17.24	92	0	0.00	81	23	22.12
PIK3AP1	0	genome.wustl.edu	37	10	98363808	98363808	+	Splice_Site	SNP	T	T	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	10	98363808	98363808	T	A	SNP	PIK3AP1	ENST00000339364	human	ensembl	74_37	-1	known	splice_site	c.2171-2	e15-2	0.955	-	-	-	no_errors	PIK3AP1	HGNC	ENSG00000155629	tier1	-	-	16	0	0.00	44	14	24.14	81	0	0.00	78	12	13.33
SERPI6	0	genome.wustl.edu	37	14	94772438	94772438	+	Silent	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	14	94772438	94772438	G	A	SNP	SERPI6	ENST00000341584	human	ensembl	74_37	-1	known	silent	c.1002	p.I334	0.036	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	-	no_errors	SERPI6	HGNC	ENSG00000170099	tier1	-	-	46	0	0.00	47	28	37.33	105	0	0.00	100	61	37.89
LINC00700	0	genome.wustl.edu	37	10	2055669	2055669	+	R	SNP	T	T	C			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	10	2055669	2055669	T	C	SNP	LINC00700	ENST00000438372	human	ensembl	74_37	-1	known	rna	NULL	NULL	0.721	-	-	-	no_errors	LINC00700	HGNC	ENSG00000234962	tier1	-	-	63	0	0.00	32	27	45.76	76	0	0.00	57	38	40.00
GPR143	0	genome.wustl.edu	37	X	9711638	9711638	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	X	9711638	9711638	C	T	SNP	GPR143	ENST00000380929	human	ensembl	74_37	-1	known	missense	c.794	p.R265Q	1.000	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	-	no_errors	GPR143	HGNC	ENSG00000101850	tier1	-	-	20	0	0.00	24	23	48.94	37	0	0.00	33	30	47.62
ACLY	0	genome.wustl.edu	37	17	40065259	40065259	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	17	40065259	40065259	A	C	SNP	ACLY	ENST00000352035	human	ensembl	74_37	-1	known	missense	c.599	p.L200R	1.000	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	-	no_errors	ACLY	HGNC	ENSG00000131473	tier1	-	-	32	0	0.00	52	10	16.13	75	0	0.00	91	14	13.33
TMTC4	0	genome.wustl.edu	37	13	101264682	101264682	+	Silent	SNP	T	T	C			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	13	101264682	101264682	T	C	SNP	TMTC4	ENST00000342624	human	ensembl	74_37	-1	known	silent	c.2034	p.A678	0.984	smart_TPR_repeat,pfscan_TPR-contain_dom	pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	-	no_errors	TMTC4	HGNC	ENSG00000125247	tier1	-	-	36	0	0.00	31	44	58.67	80	0	0.00	29	41	58.57
CASZ1	0	genome.wustl.edu	37	1	10719966	10719966	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	1	10719966	10719966	A	T	SNP	CASZ1	ENST00000377022	human	ensembl	74_37	-1	known	missense	c.1133	p.V378D	1.000	NULL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	-	no_errors	CASZ1	HGNC	ENSG00000130940	tier1	-	-	68	0	0.00	42	36	46.15	34	0	0.00	13	6	31.58
CCL23	0	genome.wustl.edu	37	17	34344871	34344871	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	17	34344871	34344871	G	A	SNP	CCL23	ENST00000293280	human	ensembl	74_37	-1	known	missense	c.64	p.R22W	0.000	NULL	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	-	no_errors	CCL23	HGNC	ENSG00000167236	tier1	-	-	35	0	0.00	53	9	14.52	35	0	0.00	39	5	11.36
ANO7	0	genome.wustl.edu	37	2	242146995	242146995	+	Silent	SNP	A	A	G			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	2	242146995	242146995	A	G	SNP	ANO7	ENST00000274979	human	ensembl	74_37	+1	known	silent	c.1149	p.E383	1.000	pfam_Anoctamin	pfam_Anoctamin	-	no_errors	ANO7	HGNC	ENSG00000146205	tier1	-	-	69	0	0.00	57	33	36.67	50	0	0.00	35	16	31.37
METTL25	0	genome.wustl.edu	37	12	82872802	82872802	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	12	82872802	82872802	G	C	SNP	METTL25	ENST00000248306	human	ensembl	74_37	+1	known	nonstop	c.1811	p.*604S	0.686	NULL	NULL	-	no_errors	METTL25	HGNC	ENSG00000127720	tier1	-	-	39	0	0.00	338	211	38.36	46	0	0.00	477	249	34.25
HRH3	0	genome.wustl.edu	37	20	60791718	60791718	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	20	60791718	60791718	G	A	SNP	HRH3	ENST00000317393	human	ensembl	74_37	-1	known	missense	c.682	p.R228C	1.000	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	-	no_errors	HRH3	HGNC	ENSG00000101180	tier1	-	-	25	0	0.00	50	22	30.14	39	0	0.00	42	22	34.38
DYSF	0	genome.wustl.edu	37	2	71797272	71797272	+	R	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	2	71797272	71797272	G	A	SNP	DYSF	ENST00000461565	human	ensembl	74_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	DYSF	HGNC	ENSG00000135636	tier1	-	-	58	0	0.00	57	26	31.33	71	0	0.00	77	24	23.76
LIPI	0	genome.wustl.edu	37	21	15481348	15481348	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	21	15481348	15481348	A	G	SNP	LIPI	ENST00000344577	human	ensembl	74_37	-1	known	missense	c.1412	p.L471P	0.460	pirsf_Lipoprotein_lipase_LIPH	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	-	no_errors	LIPI	HGNC	ENSG00000188992	tier1	-	-	48	0	0.00	44	33	42.86	107	0	0.00	57	37	39.36
APBA2	0	genome.wustl.edu	37	15	29346408	29346408	+	Silent	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	15	29346408	29346408	C	T	SNP	APBA2	ENST00000558259	human	ensembl	74_37	+1	known	silent	c.321	p.D107	0.995	NULL	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	-	no_errors	APBA2	HGNC	ENSG00000034053	tier1	-	-	31	0	0.00	36	32	47.06	30	0	0.00	17	20	54.05
SDHAP1	0	genome.wustl.edu	37	3	195713419	195713419	+	R	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	3	195713419	195713419	C	T	SNP	SDHAP1	ENST00000413474	human	ensembl	74_37	-1	known	rna	NULL	NULL	0.031	-	-	-	no_errors	SDHAP1	HGNC	ENSG00000185485	tier1	-	-	94	0	0.00	139	29	17.26	18	0	0.00	13	2	13.33
RIN1	0	genome.wustl.edu	37	11	66101439	66101439	+	Silent	SNP	C	C	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	11	66101439	66101439	C	A	SNP	RIN1	ENST00000311320	human	ensembl	74_37	-1	known	silent	c.1542	p.R514	0.342	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	-	no_errors	RIN1	HGNC	ENSG00000174791	tier1	-	-	82	0	0.00	60	41	40.20	18	0	0.00	13	11	45.83
GPR98	0	genome.wustl.edu	37	5	90055265	90055265	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	5	90055265	90055265	G	C	SNP	GPR98	ENST00000405460	human	ensembl	74_37	+1	known	missense	c.11980	p.E3994Q	0.000	pfam_Calx_beta,smart_Calx_beta	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	-	no_errors	GPR98	HGNC	ENSG00000164199	tier1	-	-	95	0	0.00	65	40	38.10	63	0	0.00	49	27	35.53
NTRK1	0	genome.wustl.edu	37	1	156837972	156837972	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	1	156837972	156837972	G	A	SNP	NTRK1	ENST00000524377	human	ensembl	74_37	+1	known	missense	c.505	p.G169R	0.001	smart_Cys-rich_flank_reg_C	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	-	no_errors	NTRK1	HGNC	ENSG00000198400	tier1	-	-	38	0	0.00	64	15	18.99	40	0	0.00	39	13	25.00
METTL13	0	genome.wustl.edu	37	1	171763629	171763629	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	1	171763629	171763629	C	G	SNP	METTL13	ENST00000361735	human	ensembl	74_37	+1	known	missense	c.1787	p.S596C	0.002	pfam_Spermidine/spermine_synthase	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	-	no_errors	METTL13	HGNC	ENSG00000010165	tier1	-	-	52	0	0.00	184	16	8.00	94	0	0.00	314	50	13.74
HMMR	0	genome.wustl.edu	37	5	162891728	162891728	+	Splice_Site	SNP	G	G	C			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	5	162891728	162891728	G	C	SNP	HMMR	ENST00000393915	human	ensembl	74_37	+1	known	splice_site	c.146-1	e3-1	0.992	-	-	-	no_errors	HMMR	HGNC	ENSG00000072571	tier1	-	-	47	0	0.00	73	13	15.12	73	0	0.00	93	21	18.42
ZNF611	0	genome.wustl.edu	37	19	53208629	53208629	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	19	53208629	53208629	T	G	SNP	ZNF611	ENST00000319783	human	ensembl	74_37	-1	known	missense	c.1679	p.H560P	1.000	smart_Znf_C2H2-like,pfscan_Znf_C2H2	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	-	no_errors	ZNF611	HGNC	ENSG00000213020	tier1	-	-	71	0	0.00	71	67	48.55	29	0	0.00	16	21	55.26
LACE1	0	genome.wustl.edu	37	6	108616232	108616232	+	R	SNP	C	C	G			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	6	108616232	108616232	C	G	SNP	LACE1	ENST00000430458	human	ensembl	74_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	LACE1	HGNC	ENSG00000135537	tier1	-	-	32	0	0.00	52	24	31.58	41	0	0.00	40	6	13.04
TGFB1	0	genome.wustl.edu	37	19	41850691	41850691	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	19	41850691	41850691	C	G	SNP	TGFB1	ENST00000221930	human	ensembl	74_37	-1	known	missense	c.595	p.D199H	1.000	pfam_TGF-b_N,pirsf_TGF-beta,prints_TGF-beta	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta	-	no_errors	TGFB1	HGNC	ENSG00000105329	tier1	-	-	41	0	0.00	68	15	18.07	81	0	0.00	71	15	17.44
GABRG1	0	genome.wustl.edu	37	4	46067556	46067556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	4	46067556	46067556	G	-	DEL	GABRG1	ENST00000295452	human	ensembl	74_37	-1	known	frame_shift_del	c.367	p.R123fs	1.000	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	-	no_errors	GABRG1	HGNC	ENSG00000163285	tier1			31	0	0.00	30	22	42.31	90	0	0.00	57	36	38.71
SLC11A1	0	genome.wustl.edu	37	2	219251373	219251376	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	CTCT	CTCT	CTCT	-	CTCT	CTCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	2	219251373	219251376	CTCT	-	DEL	SLC11A1	ENST00000233202	human	ensembl	74_37	+1	known	frame_shift_del	c.409_412	p.L137fs	1.000:1.000:0.998:1.000	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	-	no_errors	SLC11A1	HGNC	ENSG00000018280	tier1			20	0	0.00	22	5	18.52	51	0	0.00	36	21	36.84
ENSG00000270433	0	genome.wustl.edu	37	14	23764732	23764733	+	R	INS	-	-	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	14	23764732	23764733	-	A	INS	ENSG00000270433	ENST00000604456	human	ensembl	74_37	+1	known	rna	NULL	NULL	0.820:0.835	-	-	-	no_errors	RP11-124D2.7	Clone_based_vega_gene	ENSG00000270433	tier1			15	0	0.00	34	6	15.00	9	0	0.00	8	2	20.00
HSPG2	0	genome.wustl.edu	37	1	22204712	22204712	+	Silent	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	1	22204712	22204712	G	A	SNP	HSPG2	ENST00000374695	human	ensembl	74_37	-1	known	silent	c.2652	p.S884	0.591	pfam_EGF_laminin,smart_EGF_laminin	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	-	no_errors	HSPG2	HGNC	ENSG00000142798	tier1	-	-	38	0	0.00	37	42	53.16	10	0	0.00	6	4	40.00
SPTBN5	0	genome.wustl.edu	37	15	42154053	42154053	+	Silent	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	15	42154053	42154053	C	T	SNP	SPTBN5	ENST00000320955	human	ensembl	74_37	-1	known	silent	c.7617	p.A2539	0.000	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	-	no_errors	SPTBN5	HGNC	ENSG00000137877	tier1	-	-	35	0	0.00	38	39	50.65	11	0	0.00	2	2	50.00
C20orf166-AS1	0	genome.wustl.edu	37	20	61143851	61143851	+	R	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	20	61143851	61143851	C	T	SNP	C20orf166-AS1	ENST00000412495	human	ensembl	74_37	-1	known	rna	NULL	NULL	0.003	-	-	-	no_errors	C20orf166-AS1	HGNC	ENSG00000174403	tier1	-	-	88	0	0.00	246	37	13.07	19	0	0.00	76	8	9.52
NOS1	0	genome.wustl.edu	37	12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	12	117723944	117723944	G	A	SNP	NOS1	ENST00000317775	human	ensembl	74_37	-1	known	missense	c.1255	p.R419C	1.000	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	-	no_errors	NOS1	HGNC	ENSG00000089250	tier1	-	-	35	0	0.00	122	13	9.63	52	0	0.00	103	9	8.04
CHSY3	0	genome.wustl.edu	37	5	129241142	129241142	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	5	129241142	129241142	C	T	SNP	CHSY3	ENST00000305031	human	ensembl	74_37	+1	known	missense	c.620	p.S207F	1.000	pfam_Fringe-like	pfam_Chond_Galc,pfam_Fringe-like	-	no_errors	CHSY3	HGNC	ENSG00000198108	tier1	-	-	32	0	0.00	20	7	25.93	10	0	0.00	9	1	10.00
KRTAP5-5	0	genome.wustl.edu	37	11	1651420	1651420	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	11	1651420	1651420	G	T	SNP	KRTAP5-5	ENST00000399676	human	ensembl	74_37	+1	known	missense	c.350	p.G117V	0.998	NULL	NULL	-	no_errors	KRTAP5-5	HGNC	ENSG00000185940	tier1	-	-	53	0	0.00	25	21	45.65	6	0	0.00	2	0	0.00
ASCL1	0	genome.wustl.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCAGCA			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	12	103352171	103352172	-	GCAGCA	INS	ASCL1	ENST00000266744	human	ensembl	74_37	+1	known	in_frame_ins	c.149_150	p.54in_frame_insQQ	0.997:0.997	NULL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	-	no_errors	ASCL1	HGNC	ENSG00000139352	tier1			0	0	0.00	1	0	0.00	0	0	0.00	1	0	0.00
ENSG00000221415	0	genome.wustl.edu	37	4	49200283	49200283	+	R	SNP	T	T	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	4	49200283	49200283	T	A	SNP	ENSG00000221415	ENST00000408488	human	ensembl	74_37	+1	novel	rna	NULL	NULL	0.005	-	-	-	no_errors	AC118282.1	Clone_based_ensembl_gene	ENSG00000221415	tier1	-	-	10	0	0.00	19	8	29.63	0	0	0.00	0	0	0.00
MAML3	0	genome.wustl.edu	37	4	140811111	140811111	+	Silent	SNP	C	C	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	4	140811111	140811111	C	T	SNP	MAML3	ENST00000509479	human	ensembl	74_37	-1	known	silent	c.1479	p.Q493	1.000	NULL	pfam_Neuroggenic_mastermind-like_N	-	no_errors	MAML3	HGNC	ENSG00000196782	tier1	rs62344937	-	45	0	0.00	27	6	18.18	0	0	0.00	0	0	0.00
PDE6B	0	genome.wustl.edu	37	4	619722	619722	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	4	619722	619722	G	A	SNP	PDE6B	ENST00000496514	human	ensembl	74_37	+1	known	missense	c.307	p.V103M	0.012	pfam_GAF,smart_GAF	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	-	no_errors	PDE6B	HGNC	ENSG00000133256	tier1	-	-	47	0	0.00	32	17	34.69	1	0	0.00	9	0	0.00
TTC3	0	genome.wustl.edu	37	21	38463868	38463869	+	R	INS	-	-	TTATTTAT			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	21	38463868	38463869	-	TTATTTAT	INS	TTC3	ENST00000484047	human	ensembl	74_37	+1	known	rna	NULL	NULL	0.001:0.000	-	-	-	no_errors	TTC3	HGNC	ENSG00000182670	tier1			0	0	0.00	0	0	0.00	0	0	0.00	0	0	0.00
LOC101929290	0	genome.wustl.edu	37	8	11177525	11177526	+	R	INS	-	-	T			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	8	11177525	11177526	-	T	INS	LOC101929290	ENST00000498997	human	ensembl	74_37	-1	known	rna	NULL	NULL	0.004:0.005	-	-	-	no_errors	AF131216.6	Clone_based_vega_gene	ENSG00000246477	tier1			19	0	0.00	16	4	20.00	30	0	0.00	32	3	8.57
