suppTable_goldList.tsv

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	NORMAL_CAPTURE_ref_count	NORMAL_CAPTURE_var_count	NORMAL_CAPTURE_VAF	TUMOR_CAPTURE_ref_count	TUMOR_CAPTURE_var_count	TUMOR_CAPTURE_VAF	RELAPSE_CAPTURE_ref_count	RELAPSE_CAPTURE_var_count	RELAPSE_CAPTURE_VAF
1	568840	568840	A	T	SNP	ENSG00000230021	ENST00000440200	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.999	-	-	-	no_errors	RP5-857K21.4	Clone_based_vega_gene	ENSG00000230021	tier2	2637	0	0	752	33	4.20382165605096	1310	0	0
1	1563731	1563731	G	A	SNP	MIB2	ENST00000514234	human	ensembl	70_37	+1	novel	missense	c.1540	p.G514S	1.000	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	-	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	MIB2	HGNC	ENSG00000197530	tier1	197	0	0	194	0	0	168	9	5.06
1	2584750	2584750	T	G	SNP	TTC34	ENST00000401095	human	ensembl	70_37	-1	known	intronic	c.688-7748	e5-7748	0.083	-	-	-	no_errors	TTC34	HGNC	ENSG00000215912	tier2	272	0	0	400	3	0.744416873449132	322	0	0
1	2716286	2716286	A	G	SNP	TTC34	ENST00000401094	human	ensembl	70_37	-1	novel	intronic	c.1+1050	e0+1050	0.001	-	-	-	no_errors	TTC34	HGNC	ENSG00000215912	tier4	196	0	0	273	2	0.727272727272727	120	0	0
1	5193665	5193665	G	A	SNP	ENSG00000231510	ENST00000443270	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-42706	NULL	0.001	-	-	-	no_errors	RP11-542C10.1	Clone_based_vega_gene	ENSG00000231510	tier2	955	0	0	655	482	42.280701754386	406	86	17.4089068825911
1	5893734	5893734	T	C	SNP	ENSG00000216045	ENST00000401226	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-17715	NULL	0.000	-	-	-	no_errors	AL356693.1	Clone_based_ensembl_gene	ENSG00000216045	tier2	311	0	0	231	159	40.7692307692308	167	29	14.7959183673469
1	6203122	6203122	T	A	SNP	CHD5	ENST00000262450	human	ensembl	70_37	-1	known	intronic	c.2044-457	e14-457	0.012	-	-	-	no_errors	CHD5	HGNC	ENSG00000116254	tier4	410	0	0	600	2	0.324675324675325	239	0	0
1	7249419	7249419	C	A	SNP	CAMTA1	ENST00000303635	human	ensembl	70_37	+1	known	intronic	c.303-60132	e5-60132	0.011	-	-	-	no_errors	CAMTA1	HGNC	ENSG00000171735	tier4	935	0	0	1276	1	0.0783085356303837	440	6	1.34529147982063
1	8691597	8691597	T	C	SNP	RERE	ENST00000337907	human	ensembl	70_37	-1	known	intronic	c.326-7158	e2-7158	0.000	-	-	-	no_errors	RERE	HGNC	ENSG00000142599	tier3	483	0	0	770	2	0.259067357512953	286	1	0.346020761245675
1	10129037	10129037	A	C	SNP	UBE4B	ENST00000343090	human	ensembl	70_37	+1	known	intronic	c.25-3049	e2-3049	0.006	-	-	-	no_errors	UBE4B	HGNC	ENSG00000130939	tier3	500	0	0	748	2	0.266311584553928	304	1	0.327868852459016
1	11168236	11168236	A	C	SNP	MTOR	ENST00000361445	human	ensembl	70_37	-1	known	splice_site	c.7634+2	e56+2	1.000	-	-	-	no_errors	MTOR	HGNC	ENSG00000198793	tier1	534	0	0	771	3	0.387096774193548	350	1	0.284900284900285
1	14661072	14661072	G	A	SNP	ENSG00000234593	ENST00000447908	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14378	NULL	0.333	-	-	-	no_errors	RP4-704D23.1	Clone_based_vega_gene	ENSG00000234593	tier4	1038	0	0	790	688	46.4550979068197	383	82	17.558886509636
1	15840480	15840480	A	C	SNP	CASP9	ENST00000333868	human	ensembl	70_37	-1	known	intronic	c.418+4125	e2+4125	0.001	-	-	-	no_errors	CASP9	HGNC	ENSG00000132906	tier4	568	0	0	1045	2	0.191021967526266	328	2	0.606060606060606
1	16842315	16842315	T	G	SNP	LOC100133301	ENST00000601199	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23246	NULL	0.020	-	-	-	no_errors	AL355149.3	Clone_based_ensembl_gene	ENSG00000268674	tier4	798	0	0	1025	2	0.194741966893866	397	0	0
1	16892295	16892295	C	T	SNP	NBPF1	ENST00000392963	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.001	-	-	-	no_errors	NBPF1	HGNC	ENSG00000219481	tier1	118	0	0	198	3	1.49253731343284	104	0	0
1	17631816	17631816	C	A	SNP	PADI4	ENST00000375448	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2902	NULL	0.002	-	-	-	no_errors	PADI4	HGNC	ENSG00000159339	tier4	194	0	0	270	2	0.72202166064982	67	1	1.42857142857143
1	18213682	18213682	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	655	0	0	455	308	40.3669724770642	306	68	18.1818181818182
1	18741694	18741694	T	C	SNP	IGSF21	ENST00000251296	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*36874	NULL	0.012	-	-	-	no_errors	IGSF21	HGNC	ENSG00000117154	tier4	449	0	0	557	4	0.711743772241993	250	0	0
1	20384817	20384817	A	C	SNP	PLA2G5	ENST00000460175	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	PLA2G5	HGNC	ENSG00000127472	tier4	960	0	0	609	541	47.0434782608696	385	83	17.7350427350427
1	20444904	20444904	A	G	SNP	PLA2G2D	ENST00000375105	human	ensembl	70_37	-1	known	intronic	c.40+1048	e1+1048	0.000	-	-	-	no_errors	PLA2G2D	HGNC	ENSG00000117215	tier3	1004	0	0	1280	3	0.233644859813084	468	0	0
1	22201100	22201100	G	T	SNP	HSPG2	ENST00000374695	human	ensembl	70_37	-1	known	splice_region	c.3528+9	e27+9	0.000	-	-	-	no_errors	HSPG2	HGNC	ENSG00000142798	tier3	280	0	0	374	90	19.3965517241379	193	2	1.01522842639594
1	22250794	22250794	C	T	SNP	HSPG2	ENST00000374695	human	ensembl	70_37	-1	known	intronic	c.63+12854	e1+12854	0.115	-	-	-	no_errors	HSPG2	HGNC	ENSG00000142798	tier3	813	0	0	690	553	44.4891391794047	430	91	17.4664107485605
1	22620904	22620904	A	C	SNP	MIR4418	ENST00000581169	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*28111	NULL	0.056	-	-	-	no_errors	MIR4418	HGNC	ENSG00000266564	tier4	1152	0	0	1726	1	0.0579038795599305	595	3	0.498338870431894
1	23413200	23413200	A	G	SNP	LUZP1	ENST00000302291	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*2188	NULL	0.000	-	-	-	no_errors	LUZP1	HGNC	ENSG00000169641	tier3	452	0	0	634	2	0.314465408805031	276	0	0
1	23927208	23927208	A	C	SNP	MDS2	ENST00000477916	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	MDS2	HGNC	ENSG00000197880	tier4	484	0	0	684	1	0.145985401459854	293	2	0.677966101694915
1	26925680	26925680	T	G	SNP	ENSG00000243905	ENST00000497096	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-5643	NULL	0.014	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000243905	tier3	552	0	0	999	4	0.398803589232303	338	1	0.294985250737463
1	27177576	27177576	A	G	SNP	ZDHHC18	ENST00000374142	human	ensembl	70_37	+1	known	intronic	c.834-44	e6-44	0.009	-	-	-	no_errors	ZDHHC18	HGNC	ENSG00000204160	tier3	542	0	0	889	5	0.558659217877095	261	1	0.381679389312977
1	29847446	29847446	T	G	SNP	ENSG00000225011	ENST00000515851	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24041	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-810H18.1	Clone_based_vega_gene	ENSG00000225011	tier3	533	0	0	659	3	0.453172205438067	323	0	0
1	30098199	30098199	T	G	SNP	ENSG00000221126	ENST00000408199	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*19193	NULL	0.000	-	-	-	no_errors	AC092265.1	Clone_based_ensembl_gene	ENSG00000221126	tier3	768	0	0	984	2	0.202839756592292	358	1	0.278551532033426
1	30373442	30373442	T	G	SNP	ENSG00000222787	ENST00000410855	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*15590	NULL	0.000	-	-	-	no_errors	AL645944.1	Clone_based_ensembl_gene	ENSG00000222787	tier3	423	0	0	476	5	1.03950103950104	213	0	0
1	30746377	30746377	T	G	SNP	ENSG00000231251	ENST00000442774	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*46915	NULL	0.014	-	-	-	no_coding_region:pseudogene	RP3-357I16.1	Clone_based_vega_gene	ENSG00000231251	tier4	645	0	0	831	2	0.239808153477218	321	0	0
1	31845212	31845212	T	G	SNP	FABP3	ENST00000373713	human	ensembl	70_37	-1	known	intronic	c.73+577	e1+577	0.087	-	-	-	no_errors	FABP3	HGNC	ENSG00000121769	tier3	558	0	0	852	2	0.234192037470726	323	5	1.52439024390244
1	32488805	32488805	C	A	SNP	KHDRBS1	ENST00000327300	human	ensembl	70_37	+1	known	intronic	c.383-7094	e2-7094	0.001	-	-	-	no_errors	KHDRBS1	HGNC	ENSG00000121774	tier3	1622	0	0	2645	6	0.226244343891403	698	0	0
1	33297719	33297719	T	G	SNP	S100PBP	ENST00000373475	human	ensembl	70_37	+1	known	intronic	c.1024+2051	e3+2051	0.001	-	-	-	no_errors	S100PBP	HGNC	ENSG00000116497	tier4	805	0	0	1279	1	0.078125	477	3	0.625
1	34205886	34205886	G	A	SNP	CSMD2	ENST00000373381	human	ensembl	70_37	-1	known	intronic	c.2174-951	e15-951	0.008	-	-	-	no_errors	CSMD2	HGNC	ENSG00000121904	tier3	614	1	0.16260162601626	397	331	45.467032967033	207	58	21.7228464419476
1	34582405	34582405	A	G	SNP	CSMD2	ENST00000373381	human	ensembl	70_37	-1	known	intronic	c.188-27611	e2-27611	0.002	-	-	-	no_errors	CSMD2	HGNC	ENSG00000121904	tier4	1399	0	0	1864	29	1.53195985208664	661	0	0
1	35488157	35488157	A	C	SNP	ZMYM6	ENST00000357182	human	ensembl	70_37	-1	known	intronic	c.94-2089	e2-2089	0.068	-	-	-	no_errors	ZMYM6	HGNC	ENSG00000163867	tier4	551	0	0	821	1	0.121654501216545	337	5	1.46198830409357
1	35833787	35833787	T	G	SNP	ZMYM4	ENST00000314607	human	ensembl	70_37	+1	known	intronic	c.841-1843	e6-1843	0.254	-	-	-	no_errors	ZMYM4	HGNC	ENSG00000146463	tier4	208	0	0	333	2	0.597014925373134	175	0	0
1	37319358	37319358	G	A	SNP	GRIK3	ENST00000373091	human	ensembl	70_37	-1	known	intronic	c.1105-35	e8-35	0.808	-	-	-	no_errors	GRIK3	HGNC	ENSG00000163873	tier3	1154	1	0.0863557858376511	785	711	47.5267379679144	450	111	19.7860962566845
1	37327082	37327082	T	G	SNP	GRIK3	ENST00000373091	human	ensembl	70_37	-1	known	intronic	c.787-1464	e6-1464	0.000	-	-	-	no_errors	GRIK3	HGNC	ENSG00000163873	tier3	335	0	0	393	4	1.00755667506297	177	0	0
1	38963318	38963318	C	A	SNP	ENSG00000238063	ENST00000452971	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*21162	NULL	0.038	-	-	-	no_errors	RP11-329N22.1	Clone_based_vega_gene	ENSG00000238063	tier3	1336	2	0.149476831091181	890	681	43.2655654383736	497	114	18.657937806874
1	41985188	41985188	G	A	SNP	HIVEP3	ENST00000247584	human	ensembl	70_37	-1	known	intronic	c.5384-1029	e4-1029	0.001	-	-	-	no_errors	HIVEP3	HGNC	ENSG00000127124	tier3	700	3	0.426136363636364	512	403	44.0437158469945	249	71	22.1875
1	42255737	42255737	T	G	SNP	HIVEP3	ENST00000372583	human	ensembl	70_37	-1	known	intronic	c.1-89071	e1-89071	0.000	-	-	-	no_errors	HIVEP3	HGNC	ENSG00000127124	tier4	474	0	0	620	1	0.161030595813205	245	3	1.20967741935484
1	44659511	44659511	A	T	SNP	DMAP1	ENST00000315913	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-19915	NULL	0.521	-	-	-	no_errors	DMAP1	HGNC	ENSG00000178028	tier4	2114	0	0	1646	1371	45.427435387674	633	178	21.8673218673219
1	44823394	44823394	T	G	SNP	RNF220	ENST00000355387	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-54376	NULL	0.001	-	-	-	no_errors	RNF220	HGNC	ENSG00000187147	tier4	1413	0	0	2317	3	0.12914334911752	566	0	0
1	45586556	45586556	G	A	SNP	ZSWIM5	ENST00000359600	human	ensembl	70_37	-1	known	intronic	c.596-32647	e2-32647	0.044	-	-	-	no_errors	ZSWIM5	HGNC	ENSG00000162415	tier3	1564	0	0	1187	916	43.5361216730038	613	134	17.9384203480589
1	46576507	46576507	A	G	SNP	PIK3R3	ENST00000540385	human	ensembl	70_37	-1	known	intronic	c.245-30085	e2-30085	0.004	-	-	-	no_errors	PIK3R3	HGNC	ENSG00000117461	tier3	1080	0	0	1768	2	0.112994350282486	599	1	0.166666666666667
1	47460900	47460900	C	T	SNP	CYP4X1	ENST00000538609	human	ensembl	70_37	+1	known	intronic	c.174+33472	e1+33472	0.000	-	-	-	no_errors	CYP4X1	HGNC	ENSG00000186377	tier4	1079	0	0	1419	43	2.94117647058824	500	2	0.395256916996047
1	47686610	47686610	A	G	SNP	TAL1	ENST00000371883	human	ensembl	70_37	-1	known	intronic	c.548-764	e3-764	0.000	-	-	-	no_errors	TAL1	HGNC	ENSG00000162367	tier4	764	0	0	1287	2	0.155159038013964	429	0	0
1	49798352	49798352	C	A	SNP	AGBL4	ENST00000371839	human	ensembl	70_37	-1	known	intronic	c.283-86816	e4-86816	0.054	-	-	-	no_errors	AGBL4	HGNC	ENSG00000186094	tier4	955	0	0	1216	2	0.164203612479475	376	0	0
1	49958860	49958860	C	T	SNP	AGBL4	ENST00000371839	human	ensembl	70_37	-1	known	intronic	c.282+204125	e3+204125	0.018	-	-	-	no_errors	AGBL4	HGNC	ENSG00000186094	tier4	887	0	0	613	478	43.8130155820348	412	92	18.2539682539683
1	50113501	50113501	C	A	SNP	AGBL4	ENST00000371839	human	ensembl	70_37	-1	known	intronic	c.282+49484	e3+49484	0.325	-	-	-	no_errors	AGBL4	HGNC	ENSG00000186094	tier4	548	0	0	695	84	10.783055198973	316	0	0
1	52920451	52920451	C	A	SNP	ZCCHC11	ENST00000257177	human	ensembl	70_37	-1	known	intronic	c.3435+3557	e19+3557	0.584	-	-	-	no_errors	ZCCHC11	HGNC	ENSG00000134744	tier4	584	0	0	875	2	0.227790432801822	377	0	0
1	54005739	54005739	G	A	SNP	GLIS1	ENST00000312233	human	ensembl	70_37	-1	known	intronic	c.796-10114	e2-10114	0.000	-	-	-	no_errors	GLIS1	HGNC	ENSG00000174332	tier3	303	1	0.328947368421053	216	160	42.5531914893617	167	32	16.0804020100503
1	55550732	55550732	G	T	SNP	USP24	ENST00000294383	human	ensembl	70_37	-1	known	intronic	c.6765+883	e56+883	0.000	-	-	-	no_errors	USP24	HGNC	ENSG00000162402	tier3	751	0	0	1095	3	0.273224043715847	371	2	0.533333333333333
1	55646109	55646109	A	C	SNP	USP24	ENST00000294383	human	ensembl	70_37	-1	known	intronic	c.325-2304	e2-2304	0.020	-	-	-	no_errors	USP24	HGNC	ENSG00000162402	tier4	337	0	0	457	1	0.218340611353712	165	2	1.18343195266272
1	56734994	56734994	A	C	SNP	ENSG00000260971	ENST00000569425	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10751	NULL	0.000	-	-	-	no_errors	RP11-504A18.1	Clone_based_vega_gene	ENSG00000260971	tier3	497	0	0	650	6	0.914634146341463	250	0	0
1	58202395	58202395	T	C	SNP	DAB1	ENST00000371234	human	ensembl	70_37	-1	known	intronic	c.1-87058	e1-87058	0.000	-	-	-	no_errors	DAB1	HGNC	ENSG00000173406	tier4	1641	0	0	2139	3	0.13986013986014	577	0	0
1	59790413	59790413	T	C	SNP	FGGY	ENST00000303721	human	ensembl	70_37	+1	known	intronic	c.201+2991	e1+2991	0.000	-	-	-	no_errors	FGGY	HGNC	ENSG00000172456	tier3	581	0	0	880	2	0.226757369614512	311	2	0.638977635782748
1	60391538	60391538	A	G	SNP	CYP2J2	ENST00000371204	human	ensembl	70_37	-1	known	intronic	c.210+671	e1+671	0.000	-	-	-	no_errors	CYP2J2	HGNC	ENSG00000134716	tier3	578	0	0	705	3	0.423728813559322	290	1	0.343642611683849
1	62561500	62561500	T	G	SNP	INADL	ENST00000371158	human	ensembl	70_37	+1	known	intronic	c.4377+11180	e32+11180	0.000	-	-	-	no_errors	INADL	HGNC	ENSG00000132849	tier4	924	0	0	1236	2	0.161550888529887	421	4	0.941176470588235
1	63494279	63494279	A	C	SNP	ENSG00000229537	ENST00000420285	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17683	NULL	0.000	-	-	-	no_errors	RP11-5P4.1	Clone_based_vega_gene	ENSG00000229537	tier4	585	0	0	746	2	0.267022696929239	287	0	0
1	65062794	65062794	T	G	SNP	CACHD1	ENST00000371073	human	ensembl	70_37	+1	known	intronic	c.411-5695	e4-5695	0.362	-	-	-	no_errors	CACHD1	HGNC	ENSG00000158966	tier3	629	0	0	939	3	0.318471337579618	249	3	1.19047619047619
1	65287179	65287179	T	A	SNP	RAVER2	ENST00000294428	human	ensembl	70_37	+1	known	intronic	c.1929+6656	e11+6656	0.059	-	-	-	no_errors	RAVER2	HGNC	ENSG00000162437	tier3	1156	0	0	1625	2	0.122925629993854	616	0	0
1	66362336	66362336	A	G	SNP	PDE4B	ENST00000329654	human	ensembl	70_37	+1	known	intronic	c.1-16592	e1-16592	0.000	-	-	-	no_errors	PDE4B	HGNC	ENSG00000184588	tier3	1119	0	0	1470	2	0.135777325186694	497	0	0
1	67362642	67362642	A	G	SNP	WDR78	ENST00000371026	human	ensembl	70_37	-1	known	intronic	c.346-3546	e3-3546	0.412	-	-	-	no_errors	WDR78	HGNC	ENSG00000152763	tier4	781	0	0	1070	1	0.0932835820895522	429	4	0.92378752886836
1	67728489	67728489	A	G	SNP	IL12RB2	ENST00000262345	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-57563	NULL	0.000	-	-	-	no_errors	IL12RB2	HGNC	ENSG00000081985	tier3	1077	0	0	842	648	43.489932885906	521	94	15.2845528455285
1	67961405	67961405	T	C	SNP	ENSG00000235200	ENST00000230113	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33908	NULL	0.003	-	-	-	no_errors	RP4-763G1.2	Clone_based_vega_gene	ENSG00000235200	tier4	500	0	0	710	2	0.280898876404494	225	2	0.873362445414847
1	69109510	69109510	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1387	0	0	1874	4	0.212992545260916	553	2	0.36036036036036
1	69109514	69109514	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1173	0	0	1604	2	0.124455507156192	459	3	0.649350649350649
1	69610886	69610886	T	G	SNP	ENSG00000223883	ENST00000425517	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-424D14.1	Clone_based_vega_gene	ENSG00000223883	tier3	1713	0	0	2515	2	0.079428117553614	795	0	0
1	69614799	69614799	C	A	SNP	ENSG00000223883	ENST00000425517	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-424D14.1	Clone_based_vega_gene	ENSG00000223883	tier3	1147	0	0	1487	3	0.201342281879195	509	4	0.779727095516569
1	71550994	71550994	T	A	SNP	ZRANB2-AS2	ENST00000413421	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	ZRANB2-AS2	HGNC	ENSG00000229956	tier3	307	0	0	434	3	0.683371298405467	155	2	1.27388535031847
1	71971777	71971777	A	T	SNP	NEGR1	ENST00000357731	human	ensembl	70_37	-1	known	intronic	c.940+86723	e6+86723	0.184	-	-	-	no_errors	NEGR1	HGNC	ENSG00000172260	tier4	1560	0	0	1782	250	12.2970978848992	651	0	0
1	72192530	72192530	A	G	SNP	NEGR1	ENST00000357731	human	ensembl	70_37	-1	known	intronic	c.536-28708	e4-28708	0.000	-	-	-	no_errors	NEGR1	HGNC	ENSG00000172260	tier3	744	0	0	501	418	45.4347826086957	305	75	19.7368421052632
1	73116389	73116389	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1229	1	0.0813008130081301	924	722	43.8639125151883	515	139	21.1890243902439
1	73188614	73188614	A	T	SNP	ENSG00000212366	ENST00000391064	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-5162	NULL	0.064	-	-	-	no_errors	U6	RFAM	ENSG00000212366	tier4	737	0	0	968	4	0.411522633744856	322	1	0.309597523219814
1	74101762	74101762	G	A	SNP	ENSG00000223479	ENST00000424953	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-275A6.1	Clone_based_vega_gene	ENSG00000223479	tier4	1121	0	0	1514	2	0.1318391562294	550	0	0
1	74105707	74105707	G	A	SNP	ENSG00000223479	ENST00000424953	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-275A6.1	Clone_based_vega_gene	ENSG00000223479	tier3	1724	0	0	1505	597	28.3610451306413	720	0	0
1	74165577	74165577	G	C	SNP	ENSG00000223479	ENST00000424953	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-275A6.1	Clone_based_vega_gene	ENSG00000223479	tier3	1237	0	0	860	630	42.2252010723861	461	66	12.3827392120075
1	74452123	74452123	G	C	SNP	LRRIQ3	ENST00000354431	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*40374	NULL	0.004	-	-	-	no_errors	LRRIQ3	HGNC	ENSG00000162620	tier3	1787	0	0	1189	891	42.7543186180422	689	113	14.0897755610973
1	74546749	74546749	T	G	SNP	LRRIQ3	ENST00000354431	human	ensembl	70_37	-1	known	intronic	c.868-6275	e5-6275	0.046	-	-	-	no_errors	LRRIQ3	HGNC	ENSG00000162620	tier3	1178	0	0	1757	3	0.170357751277683	511	5	0.968992248062015
1	75188531	75188531	C	T	SNP	CRYZ	ENST00000340866	human	ensembl	70_37	-1	known	intronic	c.264+271	e2+271	0.000	-	-	-	no_errors	CRYZ	HGNC	ENSG00000116791	tier3	1182	0	0	1382	151	9.8371335504886	582	0	0
1	75667448	75667448	A	C	SNP	SLC44A5	ENST00000370855	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*4844	NULL	0.004	-	-	-	no_errors	SLC44A5	HGNC	ENSG00000137968	tier3	1386	0	0	1896	3	0.157811678064177	464	1	0.21505376344086
1	76422415	76422415	T	A	SNP	ASB17	ENST00000284142	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24439	NULL	0.000	-	-	-	no_errors	ASB17	HGNC	ENSG00000154007	tier4	1192	0	0	852	704	45.2442159383033	407	106	20.6627680311891
1	79513069	79513069	T	G	SNP	ELTD1	ENST00000370742	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40730	NULL	0.000	-	-	-	no_errors	ELTD1	HGNC	ENSG00000162618	tier3	1427	0	0	1959	2	0.101988781234064	671	0	0
1	81309173	81309173	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1414	0	0	1803	2	0.110497237569061	517	5	0.954198473282443
1	81884594	81884594	A	G	SNP	LPHN2	ENST00000370725	human	ensembl	70_37	+1	known	intronic	c.1-26127	e1-26127	0.484	-	-	-	no_errors	LPHN2	HGNC	ENSG00000117114	tier3	1086	0	0	722	592	45.0532724505327	431	101	18.984962406015
1	82048127	82048127	G	A	SNP	LPHN2	ENST00000370725	human	ensembl	70_37	+1	known	intronic	c.1+1462	e0+1462	0.691	-	-	-	no_errors	LPHN2	HGNC	ENSG00000117114	tier3	1839	0	0	2052	273	11.7368873602752	860	0	0
1	82835105	82835105	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	739	0	0	1069	3	0.279589934762349	359	1	0.273224043715847
1	82894878	82894878	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1264	0	0	1647	2	0.121285627653123	492	6	1.20481927710843
1	83026100	83026100	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1631	1	0.0612745098039216	1156	1033	47.1689497716895	582	181	23.7221494102228
1	83808887	83808887	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	765	0	0	1084	2	0.183823529411765	316	5	1.55763239875389
1	84222820	84222820	T	C	SNP	ENSG00000233008	ENST00000417975	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-475O6.1	Clone_based_vega_gene	ENSG00000233008	tier3	807	0	0	561	442	44.0677966101695	310	39	11.1747851002865
1	84738520	84738520	G	A	SNP	SAMD13	ENST00000370671	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26780	NULL	0.007	-	-	-	no_errors	SAMD13	HGNC	ENSG00000203943	tier4	949	1	0.10515247108307	677	539	44.2892358258011	448	75	14.2857142857143
1	84828539	84828539	A	C	SNP	SAMD13	ENST00000454967	human	ensembl	70_37	+1	putative	intronic	c.70-25424	e2-25424	0.002	-	-	-	no_start_codon	SAMD13	HGNC	ENSG00000203943	tier3	1594	0	0	2258	2	0.0884173297966401	809	0	0
1	85002509	85002509	T	G	SNP	SPATA1	ENST00000431031	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.700	-	-	-	no_errors	SPATA1	HGNC	ENSG00000122432	tier4	1694	0	0	2398	2	0.0832986255726781	803	0	0
1	86296964	86296964	T	G	SNP	COL24A1	ENST00000370571	human	ensembl	70_37	-1	known	intronic	c.3681+7304	e43+7304	0.005	-	-	-	no_errors	COL24A1	HGNC	ENSG00000171502	tier3	1377	0	0	2041	3	0.146771037181996	572	1	0.173310225303293
1	87689962	87689962	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1074	0	0	1418	3	0.211118930330753	456	0	0
1	87870533	87870533	A	T	SNP	LOC100505768	ENST00000452509	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33195	NULL	0.002	-	-	-	no_errors	RP4-544H6.2	Clone_based_vega_gene	ENSG00000227290	tier3	1264	0	0	878	719	44.9937421777222	454	92	16.8498168498169
1	88189708	88189708	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	673	0	0	898	3	0.332963374028857	283	4	1.3840830449827
1	88509855	88509855	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	3105	0	0	4463	2	0.0447828034034931	911	0	0
1	88869382	88869382	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1016	0	0	1388	3	0.215672178289001	449	2	0.442477876106195
1	90013414	90013414	T	G	SNP	LRRC8B	ENST00000330947	human	ensembl	70_37	+1	known	intronic	c.1-20392	e1-20392	0.977	-	-	-	no_errors	LRRC8B	HGNC	ENSG00000197147	tier3	689	0	0	480	460	48.936170212766	266	68	20.3592814371257
1	90447332	90447332	T	C	SNP	ZNF326	ENST00000340281	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13485	NULL	0.000	-	-	-	no_errors	ZNF326	HGNC	ENSG00000162664	tier3	1203	2	0.16597510373444	929	765	45.159386068477	538	151	21.9158200290276
1	91665147	91665147	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	724	0	0	494	488	49.6945010183299	379	88	18.8436830835118
1	91879227	91879227	A	C	SNP	HFM1	ENST00000370425	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-12588	NULL	0.087	-	-	-	no_errors	HFM1	HGNC	ENSG00000162669	tier4	754	0	0	1045	2	0.190839694656489	380	0	0
1	92087134	92087134	A	C	SNP	HSP90B3P	ENST00000370405	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13434	NULL	0.000	-	-	-	no_coding_region:pseudogene	HSP90B3P	HGNC	ENSG00000203914	tier4	845	0	0	1187	1	0.0841750841750842	415	2	0.478468899521531
1	93474184	93474184	G	A	SNP	FAM69A	ENST00000370310	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-47198	NULL	0.000	-	-	-	no_errors	FAM69A	HGNC	ENSG00000154511	tier3	904	1	0.110253583241455	848	372	30.4918032786885	540	0	0
1	95386189	95386189	T	G	SNP	CNN3	ENST00000370206	human	ensembl	70_37	-1	known	intronic	c.57+6205	e1+6205	0.000	-	-	-	no_errors	CNN3	HGNC	ENSG00000117519	tier4	724	0	0	1051	4	0.37914691943128	342	1	0.291545189504373
1	95662019	95662019	A	C	SNP	TMEM56	ENST00000370203	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*4595	NULL	0.000	-	-	-	no_errors	TMEM56	HGNC	ENSG00000152078	tier3	928	0	0	1343	2	0.148588410104012	438	2	0.454545454545455
1	95900845	95900845	A	G	SNP	FLJ31662	ENST00000424943	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39448	NULL	0.001	-	-	-	no_errors	RP4-617C6.1	Clone_based_vega_gene	ENSG00000233907	tier4	796	0	0	1083	2	0.184331797235023	389	0	0
1	96545290	96545290	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	465	0	0	645	2	0.309119010819165	235	0	0
1	97022264	97022264	A	G	SNP	ENSG00000241992	ENST00000460344	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-26501	NULL	0.008	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000241992	tier3	723	0	0	988	4	0.40281973816717	389	1	0.256410256410256
1	97414713	97414713	G	T	SNP	ENSG00000212039	ENST00000390750	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*46365	NULL	0.622	-	-	-	no_errors	AL592205.1	Clone_based_ensembl_gene	ENSG00000212039	tier3	1184	1	0.08424599831508	806	607	42.9582448690729	454	102	18.2795698924731
1	98074860	98074860	T	C	SNP	DPYD	ENST00000370192	human	ensembl	70_37	-1	known	intronic	c.851-14138	e9-14138	0.001	-	-	-	no_errors	DPYD	HGNC	ENSG00000188641	tier3	581	0	0	716	1	0.139470013947001	271	2	0.732600732600733
1	99432336	99432336	T	C	SNP	LPPR5	ENST00000263177	human	ensembl	70_37	-1	known	intronic	c.238-10039	e2-10039	0.000	-	-	-	no_errors	LPPR5	Uniprot_genename	ENSG00000117598	tier3	598	0	0	738	2	0.27027027027027	323	3	0.920245398773006
1	99745813	99745813	T	G	SNP	LPPR4	ENST00000370185	human	ensembl	70_37	+1	known	intronic	c.223-7708	e2-7708	0.000	-	-	-	no_errors	LPPR4	Uniprot_genename	ENSG00000117600	tier4	1715	0	0	2430	2	0.082203041512536	754	0	0
1	99798191	99798191	G	A	SNP	LPPR4	ENST00000370185	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*25625	NULL	0.000	-	-	-	no_errors	LPPR4	Uniprot_genename	ENSG00000117600	tier3	621	0	0	884	4	0.45045045045045	342	2	0.581395348837209
1	100447408	100447408	A	G	SNP	SLC35A3	ENST00000370153	human	ensembl	70_37	+1	known	intronic	c.108+11208	e1+11208	0.445	-	-	-	no_errors	SLC35A3	HGNC	ENSG00000117620	tier4	788	0	0	1273	2	0.156862745098039	460	1	0.216919739696312
1	102410131	102410131	A	C	SNP	OLFM3	ENST00000370103	human	ensembl	70_37	-1	known	intronic	c.69+52173	e1+52173	0.000	-	-	-	no_errors	OLFM3	HGNC	ENSG00000118733	tier3	530	0	0	713	2	0.27972027972028	195	1	0.510204081632653
1	102424898	102424898	T	A	SNP	OLFM3	ENST00000370103	human	ensembl	70_37	-1	known	intronic	c.69+37406	e1+37406	0.000	-	-	-	no_errors	OLFM3	HGNC	ENSG00000118733	tier3	1470	0	0	1958	2	0.102040816326531	623	0	0
1	102472276	102472276	A	C	SNP	OLFM3	ENST00000370103	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-9904	NULL	0.028	-	-	-	no_errors	OLFM3	HGNC	ENSG00000118733	tier4	769	0	0	885	1	0.112866817155756	317	2	0.623052959501558
1	102708875	102708875	G	A	SNP	ENSG00000233359	ENST00000447916	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-202K23.1	Clone_based_vega_gene	ENSG00000233359	tier4	1321	1	0.0755857898715042	922	788	46.0549386323787	527	125	19.0548780487805
1	103622171	103622171	A	C	SNP	COL11A1	ENST00000358392	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-48437	NULL	0.002	-	-	-	no_errors	COL11A1	HGNC	ENSG00000060718	tier4	733	0	0	1052	3	0.28436018957346	314	2	0.632911392405063
1	104602416	104602416	A	T	SNP	LOC100129138	ENST00000418362	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13229	NULL	0.000	-	-	-	no_errors	RP11-364B6.1	Clone_based_vega_gene	ENSG00000215869	tier4	1816	0	0	2421	2	0.0825082508250825	700	71	9.1849935316947
1	105021704	105021704	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	685	1	0.145772594752187	901	2	0.221238938053097	328	9	2.65486725663717
1	105155790	105155790	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	758	0	0	1049	1	0.0950570342205323	341	3	0.869565217391304
1	105682882	105682882	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1093	0	0	777	547	41.3141993957704	428	62	12.6530612244898
1	105897059	105897059	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	701	0	0	507	398	43.9779005524862	318	71	18.2519280205656
1	105906857	105906857	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	970	1	0.102880658436214	591	487	45.1762523191095	390	90	18.6721991701245
1	106547340	106547340	T	A	SNP	ENSG00000233047	ENST00000429080	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	RP11-24P14.1	Clone_based_vega_gene	ENSG00000233047	tier4	1003	0	0	1431	17	1.17403314917127	550	0	0
1	106818792	106818792	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1175	0	0	839	723	46.257197696737	482	143	22.8070175438596
1	107297580	107297580	T	A	SNP	ENSG00000232551	ENST00000441695	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*49516	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-233E12.2	Clone_based_vega_gene	ENSG00000232551	tier4	1146	0	0	878	703	44.4655281467426	480	111	18.7817258883249
1	107502362	107502362	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2059	1	0.0485436893203883	2266	290	11.3458528951487	847	1	0.117647058823529
1	107647797	107647797	G	A	SNP	NTNG1	ENST00000370068	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-43419	NULL	0.000	-	-	-	no_errors	NTNG1	HGNC	ENSG00000162631	tier3	989	0	0	1233	22	1.75019888623707	400	80	16.6666666666667
1	108545421	108545421	A	G	SNP	VAV3	ENST00000370056	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37930	NULL	0.004	-	-	-	no_errors	VAV3	HGNC	ENSG00000134215	tier3	1197	0	0	917	843	47.81622234827	468	108	18.75
1	109823727	109823727	C	A	SNP	PSRC1	ENST00000438534	human	ensembl	70_37	-1	known	silent	c.666	p.V222	0.013	NULL	NULL	-	no_errors	PSRC1	HGNC	ENSG00000134222	tier1	840	1	0.118906064209275	712	545	43.357199681782	354	108	23.3766233766234
1	111809079	111809079	G	C	SNP	CHIA	ENST00000343320	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44011	NULL	0.242	-	-	-	no_errors	CHIA	HGNC	ENSG00000134216	tier4	1226	0	0	1700	2	0.117508813160987	495	0	0
1	112010969	112010969	A	C	SNP	OVGP1	ENST00000369732	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40626	NULL	0.038	-	-	-	no_errors	OVGP1	HGNC	ENSG00000085465	tier4	1186	0	0	1671	2	0.1194743130227	532	0	0
1	112272431	112272431	C	T	SNP	FAM212B	ENST00000357260	human	ensembl	70_37	-1	known	intronic	c.58-2005	e2-2005	0.275	-	-	-	no_errors	FAM212B	HGNC	ENSG00000197852	tier3	347	0	0	274	167	37.8684807256236	207	35	14.4628099173554
1	113213621	113213621	A	G	SNP	CAPZA1	ENST00000263168	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*867	NULL	1.000	-	-	-	no_errors	CAPZA1	HGNC	ENSG00000116489	tier3	1253	0	0	1918	3	0.156087408949011	662	0	0
1	113610829	113610829	G	A	SNP	LOC100996251	ENST00000421157	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.085	-	-	-	no_errors	RP11-31F15.2	Clone_based_vega_gene	ENSG00000238198	tier4	1894	0	0	1582	1162	42.3469387755102	819	182	18.1818181818182
1	113853040	113853040	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	324	0	0	395	3	0.753768844221105	225	2	0.881057268722467
1	114822854	114822854	T	G	SNP	ENSG00000232895	ENST00000420156	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*17954	NULL	0.162	-	-	-	no_errors	RP4-543J13.1	Clone_based_vega_gene	ENSG00000232895	tier4	1509	0	0	2349	5	0.212404418011895	451	2	0.435729847494553
1	114868611	114868611	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	953	0	0	703	519	42.4713584288052	431	70	13.9720558882236
1	115235479	115235479	T	G	SNP	AMPD1	ENST00000520113	human	ensembl	70_37	-1	known	intronic	c.133+578	e2+578	0.024	-	-	-	no_errors	AMPD1	HGNC	ENSG00000116748	tier4	1011	0	0	1524	2	0.130975769482646	459	0	0
1	115838636	115838636	T	A	SNP	NGF	ENST00000369512	human	ensembl	70_37	-1	known	intronic	c.1-2265	e1-2265	0.022	-	-	-	no_errors	NGF	HGNC	ENSG00000134259	tier4	1606	0	0	1040	969	48.2329517172723	566	138	19.6022727272727
1	116268833	116268833	C	A	SNP	CASQ2	ENST00000261448	human	ensembl	70_37	-1	known	intronic	c.738-659	e7-659	0.000	-	-	-	no_errors	CASQ2	HGNC	ENSG00000118729	tier3	713	0	0	979	3	0.305498981670061	263	5	1.86567164179104
1	117067986	117067986	G	T	SNP	CD58	ENST00000369489	human	ensembl	70_37	-1	known	intronic	c.629-3381	e4-3381	0.020	-	-	-	no_errors	CD58	HGNC	ENSG00000116815	tier4	660	0	0	921	7	0.754310344827586	323	0	0
1	118178665	118178665	A	C	SNP	LOC100996263	ENST00000425010	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-30273	NULL	0.071	-	-	-	no_errors	AL157902.3	Clone_based_vega_gene	ENSG00000236866	tier4	904	0	0	1227	3	0.24390243902439	383	3	0.77720207253886
1	118644385	118644385	G	A	SNP	SPAG17	ENST00000336338	human	ensembl	70_37	-1	known	silent	c.612	p.D204	0.149	NULL	NULL	-	no_errors	SPAG17	HGNC	ENSG00000155761	tier1	769	2	0.259403372243839	543	534	49.4902687673772	325	90	21.6867469879518
1	118702712	118702712	G	A	SNP	SPAG17	ENST00000336338	human	ensembl	70_37	-1	known	intronic	c.88-8720	e2-8720	1.000	-	-	-	no_errors	SPAG17	HGNC	ENSG00000155761	tier3	779	0	0	518	438	45.7680250783699	331	85	20.4326923076923
1	119477887	119477887	T	G	SNP	TBX15	ENST00000369429	human	ensembl	70_37	-1	known	intronic	c.206-3432	e2-3432	0.000	-	-	-	no_errors	TBX15	HGNC	ENSG00000092607	tier3	1427	0	0	1936	3	0.154718927282104	662	0	0
1	119713960	119713960	A	G	SNP	ENSG00000231365	ENST00000413531	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.152	-	-	-	no_errors	RP11-418J17.1	Clone_based_vega_gene	ENSG00000231365	tier4	563	0	0	721	2	0.276243093922652	345	3	0.862068965517241
1	120585846	120585846	G	T	SNP	NOTCH2	ENST00000256646	human	ensembl	70_37	-1	known	intronic	c.74-13236	e2-13236	0.000	-	-	-	no_errors	NOTCH2	HGNC	ENSG00000134250	tier3	372	0	0	472	2	0.421940928270042	201	2	0.985221674876847
1	120616668	120616668	A	C	SNP	NOTCH2	ENST00000256646	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4648	NULL	0.020	-	-	-	no_errors	NOTCH2	HGNC	ENSG00000134250	tier3	2415	0	0	3489	2	0.0572901747350329	1402	0	0
1	121354138	121354138	C	G	SNP	ENSG00000224857	ENST00000450546	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31816	NULL	0.000	-	-	-	no_errors	AL592494.1	Clone_based_vega_gene	ENSG00000224857	tier4	640	0	0	911	2	0.218340611353712	339	0	0
1	121355520	121355520	T	C	SNP	ENSG00000224857	ENST00000450546	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33198	NULL	0.000	-	-	-	no_errors	AL592494.1	Clone_based_vega_gene	ENSG00000224857	tier4	281	0	0	400	2	0.496277915632754	204	3	1.44927536231884
1	142808369	142808369	A	C	SNP	LOC100996920	ENST00000423385	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-423O2.5	Clone_based_vega_gene	ENSG00000234978	tier3	2415	0	0	3619	2	0.0552181115405853	1350	1	0.073909830007391
1	143136564	143136564	A	G	SNP	ENSG00000232274	ENST00000422129	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.206	-	-	-	no_errors	BX571672.2	Clone_based_vega_gene	ENSG00000232274	tier3	1467	0	0	1755	2	0.113830392714855	703	2	0.283687943262411
1	143407079	143407079	A	C	SNP	ENSG00000185044	ENST00000423249	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.049	-	-	-	no_errors	BX004987.4	Clone_based_vega_gene	ENSG00000185044	tier4	1356	0	0	1700	3	0.176056338028169	626	6	0.949367088607595
1	144045163	144045163	T	G	SNP	SRGAP2B	ENST00000467933	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	SRGAP2B	HGNC	ENSG00000196369	tier3	1194	0	0	1738	2	0.114942528735632	577	0	0
1	144526841	144526841	T	A	SNP	LOC728875	ENST00000411760	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5922	NULL	0.019	-	-	-	no_errors	RP11-640M9.1	Clone_based_vega_gene	ENSG00000236943	tier4	2703	0	0	3596	2	0.0555864369093941	1029	0	0
1	144526848	144526848	T	A	SNP	LOC728875	ENST00000411760	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5929	NULL	0.023	-	-	-	no_errors	RP11-640M9.1	Clone_based_vega_gene	ENSG00000236943	tier4	2897	0	0	3926	2	0.0509035377958768	1168	0	0
1	145092664	145092664	T	G	SNP	PDE4DIP	ENST00000369348	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-16802	NULL	0.000	-	-	-	no_errors	PDE4DIP	HGNC	ENSG00000178104	tier3	949	0	0	1415	4	0.281888653981677	525	4	0.756143667296786
1	147209651	147209651	G	A	SNP	ENSG00000234190	ENST00000426504	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40049	NULL	0.001	-	-	-	no_errors	RP11-433J22.3	Clone_based_vega_gene	ENSG00000234190	tier3	447	0	0	332	329	49.7730711043873	213	57	21.1111111111111
1	147417040	147417040	T	C	SNP	GPR89B	ENST00000314163	human	ensembl	70_37	+1	known	intronic	c.415+828	e5+828	0.000	-	-	-	no_errors	GPR89B	HGNC	ENSG00000188092	tier3	878	0	0	1239	2	0.16116035455278	456	0	0
1	148857589	148857589	A	C	SNP	ENSG00000231448	ENST00000444424	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.042	-	-	-	no_coding_region:pseudogene	RP11-763B22.9	Clone_based_vega_gene	ENSG00000231448	tier3	2155	0	0	2649	4	0.150715900527506	1867	1	0.0535331905781585
1	149285005	149285005	A	G	SNP	FAM91A2	ENST00000424684	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	FAM91A2	HGNC	ENSG00000226067	tier3	1188	0	0	1823	3	0.164293537787514	737	0	0
1	149306668	149306668	G	A	SNP	ENSG00000233430	ENST00000449024	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP11-403I13.9	Clone_based_vega_gene	ENSG00000233430	tier3	2004	0	0	2880	1	0.0346620450606586	1082	4	0.365296803652968
1	150241785	150241785	T	G	SNP	C1orf54	ENST00000369102	human	ensembl	70_37	+1	known	intronic	c.1+565	e0+565	0.999	-	-	-	no_errors	C1orf54	HGNC	ENSG00000118292	tier2	898	0	0	1544	3	0.193548387096774	454	0	0
1	151839563	151839563	T	C	SNP	RORC	ENST00000392697	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-35958	NULL	0.028	-	-	-	no_errors	RORC	HGNC	ENSG00000143365	tier4	765	0	0	1206	3	0.248138957816377	401	0	0
1	151897389	151897389	T	G	SNP	THEM4	ENST00000368814	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15455	NULL	0.012	-	-	-	no_errors	THEM4	HGNC	ENSG00000159445	tier3	965	0	0	1538	6	0.38860103626943	382	0	0
1	152633649	152633649	G	T	SNP	LCE2B	ENST00000368780	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25671	NULL	0.013	-	-	-	no_errors	LCE2B	HGNC	ENSG00000159455	tier3	683	0	0	820	2	0.243013365735115	323	5	1.52439024390244
1	153047173	153047173	T	G	SNP	SPRR2B	ENST00000368752	human	ensembl	70_37	-1	known	intronic	c.1-3839	e1-3839	0.015	-	-	-	no_errors	SPRR2B	HGNC	ENSG00000196805	tier4	862	0	0	1192	3	0.25062656641604	408	1	0.244498777506112
1	153845041	153845041	A	C	SNP	GATAD2B	ENST00000368655	human	ensembl	70_37	-1	known	intronic	c.1-44217	e1-44217	0.028	-	-	-	no_errors	GATAD2B	HGNC	ENSG00000143614	tier4	1211	11	0.900163666121113	1190	906	43.2045779685265	581	117	16.7621776504298
1	155146640	155146640	A	G	SNP	TRIM46	ENST00000334634	human	ensembl	70_37	+1	known	intronic	c.63+135	e1+135	0.000	-	-	-	no_errors	TRIM46	HGNC	ENSG00000163462	tier2	361	0	0	707	2	0.282087447108604	221	0	0
1	155538630	155538630	C	T	SNP	ASH1L	ENST00000368346	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-47320	NULL	0.050	-	-	-	no_errors	ASH1L	HGNC	ENSG00000116539	tier4	1445	0	0	2244	9	0.399290150842946	670	4	0.578871201157742
1	156994524	156994524	G	A	SNP	ARHGEF11	ENST00000368194	human	ensembl	70_37	-1	known	intronic	c.32+19567	e1+19567	0.001	-	-	-	no_errors	ARHGEF11	HGNC	ENSG00000132694	tier3	981	0	0	1320	3	0.226415094339623	543	2	0.364298724954463
1	157134578	157134578	C	A	SNP	ETV3	ENST00000368192	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28434	NULL	0.000	-	-	-	no_errors	ETV3	HGNC	ENSG00000117036	tier3	983	0	0	1404	1	0.0711237553342817	484	3	0.616016427104723
1	161280009	161280009	T	G	SNP	MPZ	ENST00000360451	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-284	NULL	0.051	-	-	-	no_errors	MPZ	HGNC	ENSG00000158887	tier3	338	0	0	527	3	0.566037735849057	232	0	0
1	161820147	161820147	A	C	SNP	ATF6	ENST00000367942	human	ensembl	70_37	+1	known	intronic	c.1320-1365	e11-1365	0.002	-	-	-	no_errors	ATF6	HGNC	ENSG00000118217	tier4	479	0	0	722	2	0.275862068965517	227	1	0.43859649122807
1	162026226	162026226	A	C	SNP	OLFML2B	ENST00000294794	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33006	NULL	0.038	-	-	-	no_errors	OLFML2B	HGNC	ENSG00000162745	tier4	1349	0	0	1753	2	0.113895216400911	630	0	0
1	163114028	163114028	A	G	SNP	RGS5	ENST00000313961	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*3104	NULL	0.000	-	-	-	no_errors	RGS5	HGNC	ENSG00000143248	tier3	1198	0	0	1635	4	0.243605359317905	460	2	0.432900432900433
1	163199774	163199774	A	C	SNP	RGS5	ENST00000428971	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP11-267N12.3	Clone_based_vega_gene	ENSG00000232995	tier3	1276	0	0	1589	2	0.125707102451289	559	3	0.531914893617021
1	165424249	165424249	A	T	SNP	RXRG	ENST00000359842	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10119	NULL	0.038	-	-	-	no_errors	RXRG	HGNC	ENSG00000143171	tier4	449	0	0	599	7	1.15321252059308	213	1	0.467289719626168
1	165465169	165465169	G	A	SNP	LOC400794	ENST00000416424	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-280O1.2	Clone_based_vega_gene	ENSG00000237463	tier2	1202	0	0	1170	530	31.1581422692534	541	0	0
1	166061683	166061683	A	C	SNP	FAM78B	ENST00000338353	human	ensembl	70_37	-1	known	intronic	c.264-21683	e2-21683	0.000	-	-	-	no_errors	FAM78B	HGNC	ENSG00000188859	tier3	600	0	0	775	3	0.385109114249037	339	0	0
1	166277024	166277024	C	T	SNP	ENSG00000229588	ENST00000425271	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27097	NULL	0.000	-	-	-	no_errors	RP11-479J7.2	Clone_based_vega_gene	ENSG00000229588	tier3	1185	1	0.08424599831508	741	597	44.5855115758028	588	114	16.1931818181818
1	166570220	166570220	A	G	SNP	FMO9P	ENST00000477875	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2692	NULL	0.003	-	-	-	no_errors	FMO9P	HGNC	ENSG00000215834	tier3	1107	0	0	1554	2	0.12853470437018	502	0	0
1	167145213	167145213	T	C	SNP	ENSG00000231605	ENST00000426709	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	RP11-277B15.2	Clone_based_vega_gene	ENSG00000231605	tier1	616	0	0	932	2	0.213903743315508	349	0	0
1	167468982	167468982	T	C	SNP	CD247	ENST00000362089	human	ensembl	70_37	-1	known	intronic	c.58+18663	e1+18663	0.000	-	-	-	no_errors	CD247	HGNC	ENSG00000198821	tier4	696	0	0	591	556	48.4742807323452	328	83	20.1946472019465
1	169755352	169755352	G	T	SNP	C1orf112	ENST00000498289	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	C1orf112	HGNC	ENSG00000000460	tier3	1481	0	0	2187	7	0.319051959890611	590	4	0.673400673400673
1	170132502	170132502	C	T	SNP	METTL11B	ENST00000439373	human	ensembl	70_37	+1	known	intronic	c.330+2668	e2+2668	0.971	-	-	-	no_errors	METTL11B	HGNC	ENSG00000203740	tier2	1305	6	0.45766590389016	1445	181	11.1247695144438	583	2	0.340715502555366
1	170319870	170319870	G	A	SNP	ENSG00000263384	ENST00000579029	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*19484	NULL	0.000	-	-	-	no_errors	AL354732.1	Clone_based_ensembl_gene	ENSG00000263384	tier3	943	0	0	1099	4	0.36231884057971	371	1	0.268817204301075
1	170641084	170641084	T	G	SNP	PRRX1	ENST00000239461	human	ensembl	70_37	+1	known	intronic	c.241+7484	e1+7484	0.024	-	-	-	no_errors	PRRX1	HGNC	ENSG00000116132	tier2	948	0	0	1215	4	0.328137817883511	447	7	1.54185022026432
1	170684435	170684435	G	A	SNP	PRRX1	ENST00000239461	human	ensembl	70_37	+1	known	intronic	c.242-4432	e2-4432	0.000	-	-	-	no_errors	PRRX1	HGNC	ENSG00000116132	tier3	1104	0	0	896	545	37.8209576682859	493	86	14.853195164076
1	171587029	171587029	T	G	SNP	ENSG00000244531	ENST00000483518	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-4354	NULL	0.005	-	-	-	no_errors	RP3-454G6.2	Clone_based_vega_gene	ENSG00000244531	tier4	1096	0	0	1566	3	0.190961171228517	496	1	0.200803212851406
1	171829807	171829807	T	G	SNP	DNM3	ENST00000358155	human	ensembl	70_37	+1	known	intronic	c.161+18850	e1+18850	0.560	-	-	-	no_errors	DNM3	HGNC	ENSG00000197959	tier4	1436	0	0	2063	4	0.193423597678917	545	1	0.183150183150183
1	173639144	173639144	C	T	SNP	ENSG00000228394	ENST00000453299	human	ensembl	70_37	-1	novel	intronic	c.104-541	e2-541	0.000	-	-	-	no_start_codon:no_stop_codon	BX248409.1	Clone_based_ensembl_gene	ENSG00000228394	tier2	1582	0	0	2295	3	0.130434782608696	723	0	0
1	176857179	176857179	A	G	SNP	ASTN1	ENST00000367654	human	ensembl	70_37	-1	known	intronic	c.3098+28	e18+28	0.000	-	-	-	no_errors	ASTN1	HGNC	ENSG00000152092	tier3	868	1	0.114942528735632	549	457	45.427435387674	305	110	26.5060240963855
1	177320394	177320394	A	C	SNP	ENSG00000224968	ENST00000451341	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-328	NULL	0.004	-	-	-	no_errors	RP1-35C21.1	Clone_based_vega_gene	ENSG00000224968	tier4	448	0	0	514	1	0.194174757281553	206	2	0.961538461538462
1	177562066	177562066	C	T	SNP	LOC100506128	ENST00000458070	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.916	-	-	-	no_errors	RP1-35C21.2	Clone_based_vega_gene	ENSG00000227579	tier3	1362	0	0	898	780	46.4839094159714	604	88	12.7167630057803
1	177655225	177655225	G	T	SNP	ENSG00000236720	ENST00000427173	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14434	NULL	0.018	-	-	-	no_errors	RP11-63B19.1	Clone_based_vega_gene	ENSG00000236720	tier3	1102	1	0.0906618313689937	1504	2	0.132802124833997	462	9	1.91082802547771
1	178661504	178661504	C	T	SNP	RALGPS2	ENST00000367635	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-84396	NULL	0.001	-	-	-	no_errors	RALGPS2	HGNC	ENSG00000116191	tier4	1060	1	0.0942507068803016	762	614	44.5896877269426	450	72	13.7931034482759
1	179420586	179420586	G	T	SNP	ENSG00000236539	ENST00000411857	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-179420586	NULL	0.760	-	-	-	no_coding_region:pseudogene	RP11-215I23.4	Clone_based_vega_gene	ENSG00000236539	tier4	1206	0	0	1604	2	0.12453300124533	513	4	0.773694390715667
1	180210102	180210102	T	G	SNP	LHX4	ENST00000263726	human	ensembl	70_37	+1	known	intronic	c.77-7318	e2-7318	0.000	-	-	-	no_errors	LHX4	HGNC	ENSG00000121454	tier3	827	0	0	1152	2	0.173310225303293	383	0	0
1	180558530	180558530	C	G	SNP	XPR1	ENST00000367590	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-42808	NULL	0.002	-	-	-	no_errors	XPR1	HGNC	ENSG00000143324	tier3	1068	1	0.0934579439252336	1445	1	0.0691562932226833	489	40	7.56143667296786
1	180961005	180961005	C	A	SNP	STX6	ENST00000258301	human	ensembl	70_37	-1	known	intronic	c.363+1494	e4+1494	0.000	-	-	-	no_errors	STX6	HGNC	ENSG00000135823	tier3	690	0	0	1033	2	0.192864030858245	270	1	0.3690036900369
1	181040928	181040928	A	G	SNP	IER5	ENST00000367577	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17111	NULL	0.101	-	-	-	no_errors	IER5	HGNC	ENSG00000162783	tier3	1016	1	0.0983284169124877	1387	27	1.90812720848057	387	62	13.6263736263736
1	181925307	181925307	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	578	0	0	742	2	0.268817204301075	306	0	0
1	182398764	182398764	C	G	SNP	RGSL1	ENST00000294854	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20537	NULL	0.000	-	-	-	no_errors	RGSL1	HGNC	ENSG00000121446	tier4	723	0	0	1010	2	0.197433366238894	365	1	0.273224043715847
1	182981336	182981336	A	G	SNP	LAMC1	ENST00000258341	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11516	NULL	0.000	-	-	-	no_errors	LAMC1	HGNC	ENSG00000135862	tier3	1185	0	0	1635	2	0.122174709835064	511	0	0
1	183460969	183460969	T	G	SNP	SMG7	ENST00000507469	human	ensembl	70_37	+1	known	intronic	c.29+19185	e1+19185	0.020	-	-	-	no_errors	SMG7	HGNC	ENSG00000116698	tier4	225	0	0	290	1	0.343642611683849	118	2	1.66666666666667
1	184622046	184622046	C	A	SNP	ENSG00000252790	ENST00000516981	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-25022	NULL	0.006	-	-	-	no_errors	SNORD112	RFAM	ENSG00000252790	tier4	961	0	0	1368	2	0.145985401459854	484	1	0.205338809034908
1	186252960	186252960	A	C	SNP	PRG4	ENST00000445192	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13048	NULL	0.003	-	-	-	no_errors	PRG4	HGNC	ENSG00000116690	tier4	755	0	0	558	391	41.1578947368421	311	52	14.2465753424658
1	186268207	186268207	A	C	SNP	PRG4	ENST00000445192	human	ensembl	70_37	+1	known	intronic	c.77-1016	e2-1016	0.994	-	-	-	no_errors	PRG4	HGNC	ENSG00000116690	tier3	851	0	0	1161	2	0.171969045571797	412	2	0.480769230769231
1	187199821	187199821	G	A	SNP	ENSG00000236030	ENST00000458683	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-108M21.1	Clone_based_vega_gene	ENSG00000236030	tier3	1031	0	0	738	540	42.2535211267606	429	109	20.1107011070111
1	187264332	187264332	G	T	SNP	ENSG00000236030	ENST00000458683	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-108M21.1	Clone_based_vega_gene	ENSG00000236030	tier4	1054	4	0.376293508936971	1419	19	1.31670131670132	523	18	3.31491712707182
1	188823850	188823850	A	T	SNP	ENSG00000238054	ENST00000414765	human	ensembl	70_37	-1	putative	3_prime_flanking_region	c.*14758	NULL	0.379	-	-	-	no_errors	RP11-316I3.2	Clone_based_vega_gene	ENSG00000238054	tier4	1311	0	0	1576	3	0.189873417721519	558	1	0.177935943060498
1	188992564	188992564	G	T	SNP	ENSG00000226486	ENST00000445072	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.180	-	-	-	no_errors	RP11-373J16.1	Clone_based_vega_gene	ENSG00000226486	tier4	2572	2	0.0776699029126214	2344	1105	32.0197044334975	649	6	0.914634146341463
1	189033451	189033451	A	G	SNP	ENSG00000226486	ENST00000445072	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*27058	NULL	0.000	-	-	-	no_errors	RP11-373J16.1	Clone_based_vega_gene	ENSG00000226486	tier3	1116	0	0	1425	2	0.140154169586545	476	0	0
1	189197658	189197658	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1086	0	0	1394	1	0.0716845878136201	485	3	0.614754098360656
1	190457742	190457742	G	A	SNP	ENSG00000241505	ENST00000417409	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-161I10.1	Clone_based_vega_gene	ENSG00000241505	tier4	739	0	0	919	5	0.541125541125541	340	1	0.291545189504373
1	190759813	190759813	G	A	SNP	LOC440704	ENST00000413356	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-463J7.2	Clone_based_vega_gene	ENSG00000231175	tier3	831	0	0	587	414	41.2761714855434	421	61	12.5514403292181
1	190796926	190796926	T	C	SNP	LOC440704	ENST00000413356	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*26138	NULL	0.155	-	-	-	no_errors	RP11-463J7.2	Clone_based_vega_gene	ENSG00000231175	tier4	883	0	0	1285	3	0.232558139534884	477	0	0
1	191959012	191959012	G	A	SNP	ENSG00000228215	ENST00000430776	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.047	-	-	-	no_errors	RP11-541F9.2	Clone_based_vega_gene	ENSG00000228215	tier4	645	0	0	841	3	0.355029585798817	381	1	0.261780104712042
1	195394278	195394278	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1613	0	0	2088	2	0.0956937799043062	597	4	0.665557404326123
1	195732619	195732619	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	218	0	0	184	131	41.5873015873016	119	31	20.6666666666667
1	196507398	196507398	C	A	SNP	KCNT2	ENST00000294725	human	ensembl	70_37	-1	known	intronic	c.96-45927	e2-45927	0.016	-	-	-	no_errors	KCNT2	HGNC	ENSG00000162687	tier4	491	0	0	317	281	46.9899665551839	212	65	23.4657039711191
1	196829031	196829031	G	T	SNP	CFHR2	ENST00000367421	human	ensembl	70_37	+1	known	intronic	c.58+39999	e1+39999	0.000	-	-	-	no_errors	CFHR2	HGNC	ENSG00000080910	tier4	1153	0	0	1528	4	0.261096605744125	506	0	0
1	200544679	200544679	A	C	SNP	KIF14	ENST00000367350	human	ensembl	70_37	-1	known	intronic	c.3566+40	e21+40	0.001	-	-	-	no_errors	KIF14	HGNC	ENSG00000118193	tier4	1211	0	0	996	793	44.2769402568398	488	67	12.0720720720721
1	201517923	201517923	T	G	SNP	CSRP1	ENST00000340006	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-52492	NULL	0.000	-	-	-	no_errors	CSRP1	HGNC	ENSG00000159176	tier3	1089	0	0	1696	10	0.585480093676815	462	6	1.27931769722814
1	202519450	202519450	A	C	SNP	PPP1R12B	ENST00000336894	human	ensembl	70_37	+1	known	intronic	c.2491-12303	e19-12303	0.001	-	-	-	no_errors	PPP1R12B	HGNC	ENSG00000077157	tier3	1226	0	0	1706	2	0.117096018735363	627	0	0
1	203876540	203876540	T	G	SNP	CBX1P3	ENST00000413296	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47228	NULL	0.128	-	-	-	no_coding_region:pseudogene	CBX1P3	HGNC	ENSG00000237379	tier4	873	0	0	1387	2	0.143988480921526	488	0	0
1	204307405	204307405	C	G	SNP	PLEKHA6	ENST00000272203	human	ensembl	70_37	-1	known	intronic	c.1+21417	e0+21417	0.002	-	-	-	no_errors	PLEKHA6	HGNC	ENSG00000143850	tier3	541	0	0	755	2	0.263852242744063	283	0	0
1	205646317	205646317	T	G	SNP	SLC45A3	ENST00000367145	human	ensembl	70_37	-1	known	intronic	c.1+3205	e0+3205	0.000	-	-	-	no_errors	SLC45A3	HGNC	ENSG00000158715	tier3	526	0	0	740	2	0.269541778975741	284	0	0
1	206575757	206575757	T	G	SNP	SRGAP2	ENST00000483628	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	SRGAP2	HGNC	ENSG00000163486	tier3	987	0	0	1419	1	0.0704225352112676	536	2	0.371747211895911
1	207408299	207408299	T	G	SNP	ENSG00000237074	ENST00000417084	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14113	NULL	0.002	-	-	-	no_errors	RP11-6J21.2	Clone_based_vega_gene	ENSG00000237074	tier4	688	0	0	980	2	0.203458799593082	408	1	0.244498777506112
1	207967283	207967283	G	T	SNP	CD46	ENST00000469535	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	CD46	HGNC	ENSG00000117335	tier1	716	1	0.139470013947001	953	2	0.209424083769634	304	8	2.56410256410256
1	208098118	208098118	T	C	SNP	CD34	ENST00000310833	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-13693	NULL	0.001	-	-	-	no_errors	CD34	HGNC	ENSG00000174059	tier3	945	0	0	1348	3	0.22189349112426	441	0	0
1	209150783	209150783	G	A	SNP	LOC100506899	ENST00000453569	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*2131	NULL	0.000	-	-	-	no_errors	RP5-1051D14.1	Clone_based_vega_gene	ENSG00000236950	tier3	900	0	0	1214	2	0.163934426229508	446	0	0
1	210375128	210375128	A	G	SNP	SERTAD4	ENST00000367012	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36178	NULL	0.111	-	-	-	no_errors	SERTAD4	HGNC	ENSG00000082497	tier4	1384	0	0	1814	2	0.11001100110011	571	0	0
1	210634477	210634477	T	A	SNP	HHAT	ENST00000391905	human	ensembl	70_37	+1	known	intronic	c.857-3372	e7-3372	0.002	-	-	-	no_errors	HHAT	HGNC	ENSG00000054392	tier3	1102	0	0	1556	2	0.128369704749679	497	0	0
1	211349235	211349235	G	A	SNP	KCNH1	ENST00000271751	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41948	NULL	0.001	-	-	-	no_errors	KCNH1	HGNC	ENSG00000143473	tier3	857	0	0	612	561	47.7853492333901	365	106	22.5053078556263
1	211642829	211642829	A	C	SNP	ENSG00000223649	ENST00000417794	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22768	NULL	0.003	-	-	-	no_errors	RP11-359E8.3	Clone_based_vega_gene	ENSG00000223649	tier4	798	0	0	1248	6	0.47808764940239	375	5	1.31578947368421
1	212097006	212097006	T	C	SNP	ENSG00000233626	ENST00000416056	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12585	NULL	0.014	-	-	-	no_coding_region:pseudogene	RP11-565J7.1	Clone_based_vega_gene	ENSG00000233626	tier3	270	0	0	445	4	0.89086859688196	154	2	1.28205128205128
1	212800125	212800125	G	T	SNP	ENSG00000235862	ENST00000427949	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-12	NULL	0.005	-	-	-	no_errors	RP11-338C15.5	Clone_based_vega_gene	ENSG00000235862	tier2	887	0	0	1371	4	0.290697674418605	390	4	1.01522842639594
1	213790987	213790987	A	T	SNP	ENSG00000221026	ENST00000408099	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-7804	NULL	0.000	-	-	-	no_errors	AL592063.1	Clone_based_ensembl_gene	ENSG00000221026	tier3	1473	0	0	1013	855	45.7463884430177	521	113	17.8233438485804
1	214404395	214404395	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1292	1	0.0773395204949729	944	784	45.3703703703704	569	134	19.0611664295875
1	214766094	214766094	A	C	SNP	CENPF	ENST00000366955	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21004	NULL	0.210	-	-	-	no_errors	CENPF	HGNC	ENSG00000117724	tier4	958	0	0	1455	3	0.205761316872428	364	1	0.273972602739726
1	214962591	214962591	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	936	0	0	858	410	32.3089046493302	513	2	0.388349514563107
1	215323430	215323430	G	T	SNP	KCNK2	ENST00000444842	human	ensembl	70_37	+1	known	intronic	c.476-19112	e4-19112	0.000	-	-	-	no_errors	KCNK2	HGNC	ENSG00000082482	tier4	804	1	0.124223602484472	501	441	46.7656415694592	335	60	15.1898734177215
1	215373103	215373103	T	C	SNP	KCNK2	ENST00000444842	human	ensembl	70_37	+1	known	intronic	c.963+4668	e6+4668	0.000	-	-	-	no_errors	KCNK2	HGNC	ENSG00000082482	tier3	1267	1	0.0788643533123028	824	662	44.5491251682369	430	75	14.8514851485149
1	215768815	215768815	T	G	SNP	KCTD3	ENST00000259154	human	ensembl	70_37	+1	known	splice_site	c.933+2	e10+2	1.000	-	-	-	no_errors	KCTD3	HGNC	ENSG00000136636	tier1	894	0	0	1229	4	0.32441200324412	383	5	1.28865979381443
1	215795241	215795241	T	G	SNP	USH2A	ENST00000366943	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*3882	NULL	0.000	-	-	-	no_errors	USH2A	HGNC	ENSG00000042781	tier2	1586	0	0	2315	2	0.0863185153215365	813	4	0.488400488400488
1	217591051	217591051	G	T	SNP	GPATCH2	ENST00000366935	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*13436	NULL	0.003	-	-	-	no_errors	GPATCH2	HGNC	ENSG00000092978	tier3	934	0	0	1169	153	11.5733736762481	574	2	0.347222222222222
1	218373625	218373625	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1062	0	0	772	626	44.7782546494993	471	95	16.7844522968198
1	218708967	218708967	G	T	SNP	C1orf143	ENST00000491260	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*9647	NULL	0.001	-	-	-	no_errors	C1orf143	HGNC	ENSG00000228208	tier4	1770	0	0	2538	2	0.0787091696182605	364	2	0.543478260869565
1	218909736	218909736	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1637	0	0	2132	8	0.373657169546941	731	0	0
1	219002624	219002624	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	810	1	0.123304562268804	603	394	39.518555667001	319	71	18.2051282051282
1	219952278	219952278	G	A	SNP	SLC30A10	ENST00000484239	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	SLC30A10	HGNC	ENSG00000196660	tier3	1427	1	0.0699790062981106	2047	27	1.30057803468208	583	154	20.7827260458839
1	219954607	219954607	A	C	SNP	SLC30A10	ENST00000484239	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	SLC30A10	HGNC	ENSG00000196660	tier4	255	0	0	391	2	0.50761421319797	194	0	0
1	220361628	220361628	G	A	SNP	RAB3GAP2	ENST00000358951	human	ensembl	70_37	-1	known	intronic	c.1779+1417	e17+1417	0.000	-	-	-	no_errors	RAB3GAP2	HGNC	ENSG00000118873	tier3	1610	0	0	2400	2	0.0832292967124428	825	0	0
1	220728592	220728592	T	G	SNP	MARK1	ENST00000366917	human	ensembl	70_37	+1	known	intronic	c.52-24104	e2-24104	0.040	-	-	-	no_errors	MARK1	HGNC	ENSG00000116141	tier3	1347	0	0	1899	3	0.157728706624606	540	2	0.3690036900369
1	221470322	221470322	A	T	SNP	C1orf140	ENST00000434398	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*35659	NULL	0.001	-	-	-	no_errors	RP11-421L10.1	Clone_based_vega_gene	ENSG00000234754	tier4	1003	0	0	1298	2	0.153846153846154	514	0	0
1	221627890	221627890	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1754	9	0.509915014164306	2426	80	3.19106501794974	562	4	0.706713780918728
1	222083162	222083162	G	C	SNP	ENSG00000238042	ENST00000433576	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.011	-	-	-	no_errors	RP11-815M8.1	Clone_based_vega_gene	ENSG00000238042	tier3	545	0	0	716	4	0.554785020804438	279	1	0.357142857142857
1	222452323	222452323	T	G	SNP	ENSG00000236230	ENST00000416510	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-400N13.1	Clone_based_vega_gene	ENSG00000236230	tier3	1164	0	0	1550	2	0.128783000643915	450	4	0.881057268722467
1	222505914	222505914	C	T	SNP	ENSG00000236230	ENST00000416510	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	RP11-400N13.1	Clone_based_vega_gene	ENSG00000236230	tier4	1271	0	0	1701	3	0.175849941383353	514	1	0.192678227360308
1	223036314	223036314	A	C	SNP	DISP1	ENST00000495684	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.017	-	-	-	no_errors	DISP1	HGNC	ENSG00000154309	tier4	1574	0	0	1153	998	46.3970246397025	598	164	21.4099216710183
1	223079464	223079464	T	A	SNP	DISP1	ENST00000360254	human	ensembl	70_37	+1	known	intronic	c.1-22308	e1-22308	0.000	-	-	-	no_errors	DISP1	HGNC	ENSG00000154309	tier3	818	0	0	1125	4	0.354295837023915	377	3	0.789473684210526
1	223488650	223488650	A	C	SNP	SUSD4	ENST00000343846	human	ensembl	70_37	-1	known	intronic	c.149-22657	e2-22657	0.013	-	-	-	no_errors	SUSD4	HGNC	ENSG00000143502	tier4	555	0	0	813	2	0.245398773006135	304	1	0.327868852459016
1	224245935	224245935	C	T	SNP	ENSG00000229930	ENST00000414742	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-23177	NULL	0.101	-	-	-	no_coding_region:pseudogene	RP11-504P24.5	Clone_based_vega_gene	ENSG00000229930	tier4	299	0	0	380	56	12.8440366972477	204	0	0
1	224797957	224797957	T	G	SNP	CNIH3	ENST00000478120	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.031	-	-	-	no_errors	CNIH3	HGNC	ENSG00000143786	tier4	1120	1	0.0892060660124889	859	729	45.8779106356199	463	126	21.3921901528014
1	226237507	226237507	T	G	SNP	H3F3A	ENST00000366813	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14546	NULL	0.000	-	-	-	no_errors	H3F3A	HGNC	ENSG00000163041	tier3	794	0	0	1223	3	0.244698205546493	406	1	0.244498777506112
1	226336751	226336751	A	C	SNP	ACBD3	ENST00000366812	human	ensembl	70_37	-1	known	intronic	c.1376-2229	e8-2229	0.000	-	-	-	no_errors	ACBD3	HGNC	ENSG00000182827	tier3	852	0	0	1462	6	0.408441116405718	501	1	0.199203187250996
1	226340986	226340986	A	G	SNP	ACBD3	ENST00000366812	human	ensembl	70_37	-1	known	intronic	c.1091-666	e7-666	0.448	-	-	-	no_errors	ACBD3	HGNC	ENSG00000182827	tier3	1679	0	0	2812	3	0.106571936056838	858	0	0
1	227303215	227303215	G	A	SNP	CDC42BPA	ENST00000334218	human	ensembl	70_37	-1	known	intronic	c.1648-2601	e13-2601	0.000	-	-	-	no_errors	CDC42BPA	HGNC	ENSG00000143776	tier4	731	0	0	1057	5	0.468603561387067	308	0	0
1	229899334	229899334	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	702	0	0	962	2	0.207253886010363	333	1	0.29940119760479
1	230493390	230493390	C	T	SNP	PGBD5	ENST00000321327	human	ensembl	70_37	-1	known	intronic	c.422-323	e4-323	0.006	-	-	-	no_errors	PGBD5	HGNC	ENSG00000177614	tier3	413	0	0	387	182	31.9859402460457	195	0	0
1	231413267	231413267	A	C	SNP	GNPAT	ENST00000366647	human	ensembl	70_37	+1	known	missense	c.2022	p.K674N	0.924	NULL	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	-	no_errors	GNPAT	HGNC	ENSG00000116906	tier1	571	0	0	891	2	0.223713646532438	275	0	0
1	231555738	231555738	G	C	SNP	EGLN1	ENST00000366641	human	ensembl	70_37	-1	known	intronic	c.891+1006	e1+1006	0.000	-	-	-	no_errors	EGLN1	HGNC	ENSG00000135766	tier3	765	0	0	1109	3	0.269784172661871	351	2	0.563380281690141
1	232285723	232285723	G	A	SNP	ENSG00000235152	ENST00000428673	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-10114	NULL	0.000	-	-	-	no_errors	RP5-865N13.2	Clone_based_vega_gene	ENSG00000235152	tier3	1356	1	0.0736919675755343	948	749	44.1367118444313	556	72	11.4467408585056
1	232538930	232538930	C	G	SNP	SIPA1L2	ENST00000262861	human	ensembl	70_37	-1	known	intronic	c.4940+264	e19+264	0.000	-	-	-	no_errors	SIPA1L2	HGNC	ENSG00000116991	tier3	184	0	0	129	93	41.8918918918919	94	14	12.962962962963
1	233886344	233886344	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1343	0	0	942	738	43.9024390243902	594	126	17.3553719008264
1	234594634	234594634	C	T	SNP	TARBP1	ENST00000040877	human	ensembl	70_37	-1	known	intronic	c.1632+342	e8+342	0.000	-	-	-	no_errors	TARBP1	HGNC	ENSG00000059588	tier4	564	0	0	749	117	13.5103926096998	407	0	0
1	234907409	234907409	A	G	SNP	LOC100506810	ENST00000437601	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40019	NULL	0.002	-	-	-	no_errors	RP4-781K5.8	Clone_based_vega_gene	ENSG00000227630	tier3	1112	0	0	1687	2	0.118413262285376	535	4	0.740740740740741
1	235048691	235048691	A	C	SNP	ENSG00000237520	ENST00000423963	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-44287	NULL	0.000	-	-	-	no_errors	RP11-443B7.2	Clone_based_vega_gene	ENSG00000237520	tier3	777	0	0	1225	2	0.16273393002441	336	1	0.29673590504451
1	235934568	235934568	C	A	SNP	LYST	ENST00000389793	human	ensembl	70_37	-1	known	intronic	c.5785-971	e18-971	0.000	-	-	-	no_errors	LYST	HGNC	ENSG00000143669	tier3	1222	0	0	1864	3	0.160599571734475	594	2	0.335570469798658
1	236491279	236491279	G	A	SNP	ERO1LB	ENST00000354619	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-46196	NULL	0.012	-	-	-	no_errors	ERO1LB	HGNC	ENSG00000086619	tier3	357	0	0	661	2	0.301204819277108	268	1	0.371747211895911
1	237236308	237236308	C	T	SNP	RYR2	ENST00000366574	human	ensembl	70_37	+1	known	intronic	c.48+30439	e1+30439	0.000	-	-	-	no_errors	RYR2	HGNC	ENSG00000198626	tier3	1369	0	0	952	752	44.131455399061	494	94	15.9863945578231
1	242073142	242073142	C	G	SNP	BECN1P1	ENST00000356052	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47900	NULL	0.005	-	-	-	no_coding_region:pseudogene	BECN1P1	HGNC	ENSG00000196289	tier4	2606	0	0	2109	2010	48.7509095318943	831	211	20.1913875598086
1	245012861	245012861	C	T	SNP	HNRNPU-AS1	ENST00000475997	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.013	-	-	-	no_errors	HNRNPU-AS1	HGNC	ENSG00000188206	tier3	461	0	0	350	305	46.5648854961832	330	66	16.5
1	245368936	245368936	T	C	SNP	KIF26B	ENST00000407071	human	ensembl	70_37	+1	known	intronic	c.465+48951	e2+48951	0.000	-	-	-	no_errors	KIF26B	HGNC	ENSG00000162849	tier3	857	0	0	1338	2	0.149253731343284	410	1	0.24330900243309
1	245818105	245818105	G	A	SNP	KIF26B	ENST00000407071	human	ensembl	70_37	+1	known	intronic	c.2258+8523	e10+8523	0.063	-	-	-	no_errors	KIF26B	HGNC	ENSG00000162849	tier3	795	1	0.12531328320802	602	441	42.200956937799	355	95	21.1111111111111
1	245845740	245845740	A	C	SNP	KIF26B	ENST00000407071	human	ensembl	70_37	+1	known	intronic	c.2259-1795	e11-1795	0.091	-	-	-	no_errors	KIF26B	HGNC	ENSG00000162849	tier3	936	0	0	1441	2	0.138504155124654	513	0	0
1	245998420	245998420	T	G	SNP	SMYD3	ENST00000388985	human	ensembl	70_37	-1	known	intronic	c.1076+23378	e10+23378	0.018	-	-	-	no_errors	SMYD3	HGNC	ENSG00000185420	tier4	1095	0	0	1486	2	0.134138162307176	431	3	0.680272108843537
1	247185913	247185913	A	T	SNP	ZNF670	ENST00000465049	human	ensembl	70_37	-1	known	intronic	c.4-22537	e2-22537	0.001	-	-	-	no_errors	ZNF670	HGNC	ENSG00000135747	tier3	1143	0	0	1719	2	0.116211504938989	546	2	0.363636363636364
2	364312	364312	T	G	SNP	ENSG00000236856	ENST00000431911	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24100	NULL	0.197	-	-	-	no_errors	AC105393.1	Clone_based_vega_gene	ENSG00000236856	tier2	2666	25	0.929022668153103	3375	30	0.880798590722255	1118	49	4.18088737201365
2	2337018	2337018	T	A	SNP	MYT1L	ENST00000399161	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-353469	NULL	0.000	-	-	-	no_errors	MYT1L	HGNC	ENSG00000186487	tier2	1034	0	0	1155	3	0.232198142414861	404	2	0.45045045045045
2	3620894	3620894	C	T	SNP	RNASEH1	ENST00000315212	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15044	NULL	0.039	-	-	-	no_errors	RNASEH1	HGNC	ENSG00000171865	tier4	1712	0	0	1095	898	45.057701956849	607	95	13.5135135135135
2	4270288	4270288	G	T	SNP	ENSG00000215960	ENST00000401141	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*5730	NULL	0.002	-	-	-	no_errors	AC068292.1	Clone_based_ensembl_gene	ENSG00000215960	tier4	1547	0	0	1933	3	0.15495867768595	804	4	0.495049504950495
2	4324081	4324081	T	C	SNP	ENSG00000215960	ENST00000401141	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-47973	NULL	0.000	-	-	-	no_errors	AC068292.1	Clone_based_ensembl_gene	ENSG00000215960	tier2	1230	0	0	684	649	48.6506746626687	438	112	20.3636363636364
2	6588164	6588164	G	A	SNP	ENSG00000226488	ENST00000436082	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47971	NULL	0.006	-	-	-	no_errors	AC021021.2	Clone_based_vega_gene	ENSG00000226488	tier2	1302	1	0.0767459708365311	905	740	44.9848024316109	466	85	15.426497277677
2	9925953	9925953	T	G	SNP	LOC100996549	ENST00000474667	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15483	NULL	0.000	-	-	-	no_errors	RP11-521D12.5	Clone_based_vega_gene	ENSG00000243491	tier2	1170	0	0	1681	2	0.118764845605701	492	0	0
2	9962787	9962787	G	T	SNP	TAF1B	ENST00000263663	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20884	NULL	0.000	-	-	-	no_errors	TAF1B	HGNC	ENSG00000115750	tier4	1548	0	0	2074	4	0.192400192400192	680	0	0
2	10190023	10190023	A	C	SNP	KLF11	ENST00000305883	human	ensembl	70_37	+1	known	intronic	c.1258+1301	e3+1301	0.002	-	-	-	no_errors	KLF11	HGNC	ENSG00000172059	tier2	964	0	0	1506	1	0.06635700066357	467	3	0.638297872340425
2	10650261	10650261	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	746	0	0	1015	7	0.68359375	364	2	0.546448087431694
2	10726285	10726285	T	G	SNP	NOL10	ENST00000381685	human	ensembl	70_37	-1	known	intronic	c.1844+2884	e19+2884	0.000	-	-	-	no_errors	NOL10	HGNC	ENSG00000115761	tier4	1044	0	0	1610	2	0.124069478908189	458	2	0.434782608695652
2	12747785	12747785	T	A	SNP	LOC100506457	ENST00000412294	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*29311	NULL	0.000	-	-	-	no_errors	AC096559.1	Clone_based_vega_gene	ENSG00000224184	tier4	1311	0	0	895	641	41.6775032509753	509	102	16.6939443535188
2	13403179	13403179	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1751	0	0	2334	3	0.128314798973482	768	0	0
2	14176454	14176454	T	A	SNP	LINC00276	ENST00000417751	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.035	-	-	-	no_errors	LINC00276	HGNC	ENSG00000230448	tier2	1010	0	0	681	510	42.8211586901763	421	79	15.8
2	15687021	15687021	A	C	SNP	NBAS	ENST00000281513	human	ensembl	70_37	-1	known	intronic	c.379+4596	e6+4596	0.000	-	-	-	no_errors	NBAS	HGNC	ENSG00000151779	tier4	585	0	0	887	4	0.448430493273543	303	1	0.328947368421053
2	15964194	15964194	A	C	SNP	RNU5E-7P	ENST00000365290	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40865	NULL	0.948	-	-	-	no_errors	RNU5E-7P	HGNC	ENSG00000202160	tier2	528	0	0	725	2	0.274725274725275	268	1	0.371747211895911
2	16442749	16442749	A	C	SNP	ENSG00000231266	ENST00000439745	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33287	NULL	0.000	-	-	-	no_errors	AC010745.3	Clone_based_vega_gene	ENSG00000231266	tier2	391	0	0	479	5	1.03305785123967	206	1	0.483091787439614
2	16771532	16771532	T	C	SNP	FAM49A	ENST00000355549	human	ensembl	70_37	-1	known	intronic	c.1-2135	e1-2135	0.000	-	-	-	no_errors	FAM49A	HGNC	ENSG00000197872	tier2	858	0	0	1217	3	0.245901639344262	452	0	0
2	18989226	18989226	A	T	SNP	ENSG00000224626	ENST00000431697	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*20208	NULL	0.050	-	-	-	no_errors	AC106053.1	Clone_based_vega_gene	ENSG00000224626	tier4	1272	1	0.0785545954438335	1064	464	30.3267973856209	576	2	0.344827586206897
2	19743540	19743540	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	969	1	0.102880658436214	1222	2	0.163398692810458	421	9	2.06896551724138
2	21119358	21119358	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	593	1	0.168350168350168	400	317	44.2119944211994	202	47	18.8755020080321
2	21658473	21658473	T	C	SNP	ENSG00000233005	ENST00000435237	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.009	-	-	-	no_errors	AC067959.1	Clone_based_vega_gene	ENSG00000233005	tier4	449	0	0	581	3	0.513698630136986	201	0	0
2	22244966	22244966	C	T	SNP	ENSG00000231200	ENST00000450551	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC068490.2	Clone_based_vega_gene	ENSG00000231200	tier2	888	0	0	1121	3	0.266666666666667	483	0	0
2	22400243	22400243	G	A	SNP	ENSG00000231200	ENST00000450551	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC068490.2	Clone_based_vega_gene	ENSG00000231200	tier2	1445	0	0	958	758	44.1724941724942	567	87	13.2218844984802
2	23673561	23673561	T	C	SNP	KLHL29	ENST00000486442	human	ensembl	70_37	+1	known	intronic	c.1-24869	e1-24869	0.001	-	-	-	no_errors	KLHL29	HGNC	ENSG00000119771	tier2	1269	0	0	1013	468	31.6002700877785	542	0	0
2	25441298	25441298	C	T	SNP	POMC	ENST00000264708	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-53657	NULL	0.002	-	-	-	no_errors	POMC	HGNC	ENSG00000115138	tier4	465	0	0	364	293	44.5966514459665	246	42	14.4827586206897
2	25457242	25457242	C	T	SNP	DNMT3A	ENST00000264709	human	ensembl	70_37	-1	known	missense	c.2645	p.R882H	1.000	NULL	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	-	no_errors	DNMT3A	HGNC	ENSG00000119772	tier1	293	0	0	219	211	49.0697674418605	171	41	19.3396226415094
2	25457242	25457242	C	T	SNP	DNMT3A	ENST00000264709	human	ensembl	70_37	-1	known	missense	c.2645	p.R882H	1.000	NULL	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	-	no_errors	DNMT3A	HGNC	ENSG00000119772	tier1	507	0	0	317	311	49.5222929936306	298	86	22.3958333333333
2	25859365	25859365	A	G	SNP	DTNB	ENST00000406818	human	ensembl	70_37	-1	known	intronic	c.148+2518	e2+2518	0.003	-	-	-	no_errors	DTNB	HGNC	ENSG00000138101	tier2	788	0	0	1147	4	0.347523892267593	289	5	1.70068027210884
2	26426318	26426318	T	G	SNP	HADHA	ENST00000380649	human	ensembl	70_37	-1	known	intronic	c.1220+613	e12+613	0.000	-	-	-	no_errors	HADHA	HGNC	ENSG00000084754	tier2	769	0	0	1168	4	0.341296928327645	421	1	0.23696682464455
2	26477293	26477293	T	C	SNP	HADHB	ENST00000317799	human	ensembl	70_37	+1	known	splice_region	c.65-5	e2-5	0.860	-	-	-	no_errors	HADHB	HGNC	ENSG00000138029	tier2	834	0	0	1375	2	0.145243282498184	442	0	0
2	26707174	26707174	A	C	SNP	OTOF	ENST00000272371	human	ensembl	70_37	-1	known	intronic	c.1205+168	e12+168	0.000	-	-	-	no_errors	OTOF	HGNC	ENSG00000115155	tier2	253	0	0	363	2	0.547945205479452	157	0	0
2	26887081	26887081	G	T	SNP	KCNK3	ENST00000302909	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-28663	NULL	0.030	-	-	-	no_errors	KCNK3	HGNC	ENSG00000171303	tier4	1189	0	0	1721	2	0.116076610562972	382	0	0
2	28863358	28863358	G	T	SNP	PLB1	ENST00000422425	human	ensembl	70_37	+1	known	intronic	c.4066-435	e56-435	0.013	-	-	-	no_errors	PLB1	HGNC	ENSG00000163803	tier2	1687	0	0	2533	2	0.0788022064617809	677	2	0.294550810014728
2	29084804	29084804	T	C	SNP	TRMT61B	ENST00000484060	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.002	-	-	-	no_errors	TRMT61B	HGNC	ENSG00000171103	tier1	417	0	0	634	2	0.314465408805031	192	0	0
2	29402484	29402484	G	A	SNP	CLIP4	ENST00000402240	human	ensembl	70_37	+1	known	intronic	c.1803-1954	e15-1954	0.000	-	-	-	no_errors	CLIP4	HGNC	ENSG00000115295	tier4	1354	0	0	1562	240	13.3185349611543	586	0	0
2	30616605	30616605	C	A	SNP	ENSG00000235997	ENST00000421976	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*41308	NULL	0.012	-	-	-	no_errors	AC109642.1	Clone_based_vega_gene	ENSG00000235997	tier2	1094	0	0	1661	3	0.180288461538462	512	2	0.389105058365759
2	30956454	30956454	C	T	SNP	CAPN13	ENST00000295055	human	ensembl	70_37	-1	known	intronic	c.1798+861	e18+861	0.000	-	-	-	no_errors	CAPN13	HGNC	ENSG00000162949	tier4	856	0	0	583	489	45.5731593662628	345	93	20.9932279909707
2	31582920	31582920	C	A	SNP	XDH	ENST00000379416	human	ensembl	70_37	-1	known	intronic	c.2631+4104	e24+4104	0.009	-	-	-	no_errors	XDH	HGNC	ENSG00000158125	tier2	430	0	0	586	2	0.340136054421769	234	0	0
2	33631909	33631909	C	T	SNP	RASGRP3	ENST00000402538	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-108295	NULL	0.000	-	-	-	no_errors	RASGRP3	HGNC	ENSG00000152689	tier2	961	0	0	1428	55	3.70869858395145	546	0	0
2	34608257	34608257	T	C	SNP	ENSG00000226785	ENST00000422558	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-598	NULL	0.012	-	-	-	no_errors	AC073218.1	Clone_based_vega_gene	ENSG00000226785	tier4	1187	0	0	760	752	49.7354497354497	508	144	22.0858895705521
2	35057465	35057465	T	G	SNP	ENSG00000226994	ENST00000453451	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC012593.1	Clone_based_vega_gene	ENSG00000226994	tier2	886	0	0	1138	6	0.523103748910201	373	2	0.533333333333333
2	35223411	35223411	C	G	SNP	ENSG00000237320	ENST00000414796	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.005	-	-	-	no_errors	AC019064.1	Clone_based_vega_gene	ENSG00000237320	tier1	1055	0	0	1381	2	0.144508670520231	518	2	0.383877159309021
2	35731457	35731457	G	A	SNP	MIR548AD	ENST00000584780	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*34905	NULL	0.000	-	-	-	no_errors	MIR548AD	HGNC	ENSG00000265301	tier2	1160	0	0	792	589	42.6193921852388	544	111	16.9465648854962
2	36111807	36111807	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1225	0	0	1607	2	0.124300807955252	532	0	0
2	36798248	36798248	T	C	SNP	FEZ2	ENST00000405912	human	ensembl	70_37	-1	known	intronic	c.903+7492	e5+7492	0.001	-	-	-	no_errors	FEZ2	HGNC	ENSG00000171055	tier2	1425	0	0	1017	748	42.3796033994334	587	111	15.8798283261803
2	36841665	36841665	T	G	SNP	FEZ2	ENST00000357996	human	ensembl	70_37	-1	novel	intronic	c.1-23511	e1-23511	0.145	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	FEZ2	HGNC	ENSG00000171055	tier2	735	0	0	982	2	0.203252032520325	316	1	0.311526479750779
2	37323077	37323077	T	C	SNP	CCDC75	ENST00000409774	human	ensembl	70_37	+1	known	intronic	c.725-274	e8-274	0.001	-	-	-	no_errors	CCDC75	HGNC	ENSG00000152133	tier2	1030	0	0	854	714	45.448758752387	474	100	17.4216027874564
2	39055688	39055688	T	C	SNP	DHX57	ENST00000295373	human	ensembl	70_37	-1	known	intronic	c.2543-110	e13-110	0.000	-	-	-	no_errors	DHX57	HGNC	ENSG00000163214	tier2	1743	0	0	1388	1117	44.5730247406225	658	156	19.1176470588235
2	39614519	39614519	T	G	SNP	MAP4K3	ENST00000263881	human	ensembl	70_37	-1	known	intronic	c.97-9255	e2-9255	0.001	-	-	-	no_errors	MAP4K3	HGNC	ENSG00000011566	tier4	609	0	0	924	5	0.538213132400431	315	1	0.316455696202532
2	39723635	39723635	T	A	SNP	LOC728730	ENST00000422128	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC007246.3	Clone_based_vega_gene	ENSG00000231312	tier2	743	0	0	592	456	43.5114503816794	378	74	16.3716814159292
2	39910075	39910075	T	C	SNP	TMEM178A	ENST00000281961	human	ensembl	70_37	+1	known	intronic	c.400+16561	e1+16561	0.000	-	-	-	no_errors	TMEM178A	HGNC	ENSG00000152154	tier2	470	0	0	704	3	0.424328147100424	244	1	0.408163265306122
2	41065492	41065492	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	604	0	0	833	3	0.3584229390681	308	4	1.28205128205128
2	41275235	41275235	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1660	0	0	1160	921	44.2363112391931	714	118	14.1826923076923
2	41356260	41356260	G	T	SNP	ENSG00000241522	ENST00000431359	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-14660	NULL	0.001	-	-	-	no_errors	AC009223.2	Clone_based_vega_gene	ENSG00000241522	tier2	1147	0	0	1488	5	0.334896182183523	477	6	1.24223602484472
2	41489095	41489095	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1169	0	0	1453	3	0.206043956043956	543	0	0
2	41510831	41510831	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	750	0	0	487	297	37.8826530612245	384	83	17.7730192719486
2	41811136	41811136	A	C	SNP	ENSG00000221372	ENST00000408445	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-12390	NULL	0.033	-	-	-	no_errors	AC010739.1	Clone_based_ensembl_gene	ENSG00000221372	tier4	2286	0	0	3264	4	0.122324159021407	673	4	0.589970501474926
2	42156017	42156017	G	T	SNP	LOC388942	ENST00000398796	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*34838	NULL	0.026	-	-	-	no_errors	AC104654.1	Clone_based_vega_gene	ENSG00000214691	tier2	660	0	0	757	118	13.4703196347032	370	0	0
2	42944268	42944268	T	G	SNP	MTA3	ENST00000405094	human	ensembl	70_37	+1	known	intronic	c.1526-1860	e15-1860	0.007	-	-	-	no_errors	MTA3	HGNC	ENSG00000057935	tier4	769	0	0	1117	1	0.0893655049151028	483	2	0.412371134020619
2	46113597	46113597	A	C	SNP	PRKCE	ENST00000306156	human	ensembl	70_37	+1	known	intronic	c.412+43395	e2+43395	0.000	-	-	-	no_errors	PRKCE	HGNC	ENSG00000171132	tier2	824	0	0	1053	3	0.284090909090909	352	0	0
2	46763759	46763759	C	A	SNP	ATP6V1E2	ENST00000505245	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.004	-	-	-	no_errors	ATP6V1E2	HGNC	ENSG00000250565	tier1	1144	1	0.0871839581517001	867	740	46.0485376477909	485	87	15.1567944250871
2	46938724	46938724	G	T	SNP	SOCS5	ENST00000306503	human	ensembl	70_37	+1	known	intronic	c.1+12474	e0+12474	0.184	-	-	-	no_errors	SOCS5	HGNC	ENSG00000171150	tier4	670	0	0	977	2	0.204290091930541	347	3	0.852272727272727
2	47658379	47658379	A	C	SNP	MSH2	ENST00000233146	human	ensembl	70_37	+1	known	intronic	c.1276+1299	e7+1299	0.007	-	-	-	no_errors	MSH2	HGNC	ENSG00000095002	tier2	1137	0	0	900	751	45.4875832828589	526	126	19.3251533742331
2	47979108	47979108	T	G	SNP	ENSG00000225009	ENST00000454137	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.039	-	-	-	no_errors	AC006509.6	Clone_based_vega_gene	ENSG00000225009	tier4	572	0	0	912	3	0.327868852459016	360	1	0.275482093663912
2	48665823	48665823	G	T	SNP	PPP1R21	ENST00000294952	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2270	NULL	0.271	-	-	-	no_errors	PPP1R21	HGNC	ENSG00000162869	tier4	675	1	0.147710487444609	882	10	1.12107623318386	322	9	2.7190332326284
2	49012418	49012418	T	A	SNP	LHCGR	ENST00000294954	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-29608	NULL	0.001	-	-	-	no_errors	LHCGR	HGNC	ENSG00000138039	tier2	793	0	0	618	418	40.2697495183044	335	64	16.0401002506266
2	49449022	49449022	A	C	SNP	ENSG00000206915	ENST00000384188	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*11911	NULL	0.004	-	-	-	no_errors	U6	RFAM	ENSG00000206915	tier2	686	0	0	900	2	0.221483942414175	273	1	0.36231884057971
2	49954397	49954397	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1641	0	0	2331	2	0.085726532361766	667	2	0.298953662182362
2	50249593	50249593	A	C	SNP	NRXN1	ENST00000402717	human	ensembl	70_37	-1	known	intronic	c.4104+30816	e21+30816	0.016	-	-	-	no_errors	NRXN1	HGNC	ENSG00000179915	tier2	863	0	0	1147	3	0.260869565217391	454	2	0.43859649122807
2	50338464	50338464	C	A	SNP	NRXN1	ENST00000402717	human	ensembl	70_37	-1	known	intronic	c.3523-19832	e19-19832	0.001	-	-	-	no_errors	NRXN1	HGNC	ENSG00000179915	tier4	1125	1	0.0887311446317658	1385	142	9.29319371727749	566	2	0.350877192982456
2	51067680	51067680	G	T	SNP	NRXN1	ENST00000402717	human	ensembl	70_37	-1	known	intronic	c.825+58056	e5+58056	0.970	-	-	-	no_errors	NRXN1	HGNC	ENSG00000179915	tier2	920	0	0	1141	3	0.262237762237762	377	5	1.30548302872063
2	51513342	51513342	C	T	SNP	ENSG00000231918	ENST00000440698	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC007682.1	Clone_based_vega_gene	ENSG00000231918	tier4	903	1	0.110619469026549	604	471	43.8139534883721	378	74	16.2280701754386
2	51959434	51959434	T	G	SNP	ENSG00000231918	ENST00000440698	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.009	-	-	-	no_errors	AC007682.1	Clone_based_vega_gene	ENSG00000231918	tier2	1273	0	0	1615	2	0.123685837971552	569	0	0
2	52159679	52159679	A	C	SNP	ENSG00000231918	ENST00000440698	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.009	-	-	-	no_errors	AC007682.1	Clone_based_vega_gene	ENSG00000231918	tier4	1323	0	0	1441	159	9.9375	568	0	0
2	52206078	52206078	T	C	SNP	ENSG00000231918	ENST00000440698	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC007682.1	Clone_based_vega_gene	ENSG00000231918	tier4	1642	0	0	1095	927	45.8456973293769	577	150	20.5761316872428
2	54505839	54505839	G	T	SNP	ACYP2	ENST00000394666	human	ensembl	70_37	+1	known	intronic	c.186-25986	e4-25986	0.490	-	-	-	no_errors	ACYP2	HGNC	ENSG00000170634	tier2	1085	0	0	1376	3	0.217391304347826	510	0	0
2	55132609	55132609	G	A	SNP	EML6	ENST00000356458	human	ensembl	70_37	+1	novel	intronic	c.3409+1970	e23+1970	0.003	-	-	-	no_errors	EML6	HGNC	ENSG00000214595	tier2	1407	0	0	1139	901	44.1666666666667	521	106	16.9059011164274
2	55248437	55248437	G	A	SNP	RTN4	ENST00000337526	human	ensembl	70_37	-1	known	intronic	c.3013+3785	e3+3785	0.010	-	-	-	no_errors	RTN4	HGNC	ENSG00000115310	tier2	1248	0	0	1036	858	45.2293094359515	457	138	23.1932773109244
2	56501678	56501678	G	A	SNP	CCDC85A	ENST00000407595	human	ensembl	70_37	+1	known	intronic	c.1241-68336	e3-68336	0.001	-	-	-	no_errors	CCDC85A	HGNC	ENSG00000055813	tier4	531	0	0	379	266	41.2403100775194	206	44	17.6
2	57612243	57612243	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	592	0	0	785	4	0.506970849176172	319	0	0
2	61167264	61167264	C	T	SNP	NONOP2	ENST00000414613	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2080	NULL	0.000	-	-	-	no_coding_region:pseudogene	NONOP2	HGNC	ENSG00000237522	tier2	1159	0	0	1814	2	0.110132158590308	604	0	0
2	61511909	61511909	C	A	SNP	USP34	ENST00000398571	human	ensembl	70_37	-1	known	intronic	c.4832+101	e35+101	0.000	-	-	-	no_errors	USP34	HGNC	ENSG00000115464	tier4	1877	0	0	2870	2	0.0696136442742778	839	0	0
2	62658263	62658263	T	G	SNP	ENSG00000228541	ENST00000416845	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31999	NULL	0.140	-	-	-	no_errors	AC093159.1	Clone_based_vega_gene	ENSG00000228541	tier2	1679	0	0	2583	4	0.154619250096637	589	3	0.505050505050505
2	67109243	67109243	A	C	SNP	LOC101060019	ENST00000411701	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39583	NULL	0.001	-	-	-	no_errors	AC007403.2	Clone_based_vega_gene	ENSG00000230525	tier2	679	0	0	847	4	0.470035252643948	349	3	0.852272727272727
2	67671012	67671012	T	C	SNP	ETAA1	ENST00000272342	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*33842	NULL	0.181	-	-	-	no_errors	ETAA1	HGNC	ENSG00000143971	tier4	477	0	0	616	3	0.484652665589661	256	3	1.15830115830116
2	68773458	68773458	T	G	SNP	APLF	ENST00000303795	human	ensembl	70_37	+1	known	intronic	c.1286+1014	e8+1014	0.097	-	-	-	no_errors	APLF	HGNC	ENSG00000169621	tier4	907	0	0	1344	3	0.222551928783383	358	4	1.10497237569061
2	68922111	68922111	A	C	SNP	ARHGAP25	ENST00000463483	human	ensembl	70_37	+1	known	intronic	c.1+15250	e0+15250	0.120	-	-	-	no_errors	ARHGAP25	HGNC	ENSG00000163219	tier4	453	0	0	663	4	0.598802395209581	276	3	1.06761565836299
2	69182941	69182941	G	T	SNP	GKN1	ENST00000377938	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18827	NULL	0.031	-	-	-	no_errors	GKN1	HGNC	ENSG00000169605	tier2	953	0	0	1314	1	0.0760456273764259	414	7	1.66270783847981
2	69877908	69877908	G	A	SNP	ENSG00000234198	ENST00000418066	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	AC092431.1	Clone_based_vega_gene	ENSG00000234198	tier2	996	0	0	829	640	43.5078178110129	445	85	15.9176029962547
2	70226534	70226534	C	A	SNP	PCBP1-AS1	ENST00000411429	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	PCBP1-AS1	HGNC	ENSG00000179818	tier4	892	1	0.111856823266219	678	669	49.6659242761693	368	93	20.173535791757
2	70306453	70306453	T	A	SNP	PCBP1-AS1	ENST00000366234	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.042	-	-	-	no_errors	PCBP1-AS1	HGNC	ENSG00000179818	tier4	2105	21	0.987770460959548	2307	1027	30.7946026986507	620	8	1.27388535031847
2	70379391	70379391	T	G	SNP	C2orf42	ENST00000264434	human	ensembl	70_37	-1	known	intronic	c.1517-1695	e8-1695	0.001	-	-	-	no_errors	C2orf42	HGNC	ENSG00000115998	tier2	997	0	0	1632	3	0.183374083129584	529	0	0
2	71711803	71711803	A	C	SNP	DYSF	ENST00000413539	human	ensembl	70_37	+1	known	intronic	c.236+2703	e3+2703	0.151	-	-	-	no_errors	DYSF	HGNC	ENSG00000135636	tier4	703	0	0	1016	2	0.196463654223969	280	2	0.709219858156028
2	71809859	71809859	T	C	SNP	DYSF	ENST00000413539	human	ensembl	70_37	+1	known	intronic	c.3442-6864	e32-6864	0.000	-	-	-	no_errors	DYSF	HGNC	ENSG00000135636	tier4	852	0	0	1123	2	0.177777777777778	348	1	0.286532951289398
2	71901090	71901090	G	T	SNP	DYSF	ENST00000413539	human	ensembl	70_37	+1	known	intronic	c.5761-237	e52-237	0.000	-	-	-	no_errors	DYSF	HGNC	ENSG00000135636	tier4	1411	1	0.0707714083510262	1032	740	41.7371686407219	506	106	17.3202614379085
2	72696739	72696739	A	T	SNP	EXOC6B	ENST00000272427	human	ensembl	70_37	-1	known	intronic	c.1801-4271	e18-4271	0.474	-	-	-	no_errors	EXOC6B	HGNC	ENSG00000144036	tier4	892	0	0	554	450	44.8207171314741	365	94	20.479302832244
2	72899932	72899932	A	G	SNP	EXOC6B	ENST00000272427	human	ensembl	70_37	-1	known	intronic	c.669+45300	e6+45300	0.047	-	-	-	no_errors	EXOC6B	HGNC	ENSG00000144036	tier4	2239	0	0	3068	2	0.0651465798045603	617	5	0.801282051282051
2	73278709	73278709	T	C	SNP	SFXN5	ENST00000272433	human	ensembl	70_37	-1	known	intronic	c.171+6948	e2+6948	0.798	-	-	-	no_errors	SFXN5	HGNC	ENSG00000144040	tier4	368	0	0	477	1	0.209205020920502	237	3	1.25
2	73486226	73486226	T	C	SNP	FBXO41	ENST00000295133	human	ensembl	70_37	-1	known	intronic	c.2749-54	e13-54	0.012	-	-	-	no_errors	FBXO41	HGNC	ENSG00000163013	tier2	284	0	0	431	2	0.46189376443418	148	0	0
2	74972834	74972834	C	T	SNP	ENSG00000224646	ENST00000421570	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*8963	NULL	0.296	-	-	-	no_coding_region:pseudogene	AC007387.2	Clone_based_vega_gene	ENSG00000224646	tier2	863	0	0	624	540	46.3917525773196	387	82	17.4097664543524
2	75798475	75798475	A	G	SNP	EVA1A	ENST00000233712	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-53209	NULL	0.994	-	-	-	no_errors	EVA1A	HGNC	ENSG00000115363	tier2	343	0	0	439	2	0.453514739229025	194	0	0
2	75809007	75809007	T	G	SNP	EVA1A	ENST00000233712	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-63741	NULL	0.314	-	-	-	no_errors	EVA1A	HGNC	ENSG00000115363	tier4	704	0	0	855	1	0.116822429906542	374	2	0.529100529100529
2	75901270	75901270	C	A	SNP	GCFC2	ENST00000321027	human	ensembl	70_37	-1	known	intronic	c.1813-624	e13-624	0.030	-	-	-	no_errors	GCFC2	HGNC	ENSG00000005436	tier4	711	0	0	967	3	0.309278350515464	349	2	0.568181818181818
2	76242358	76242358	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1369	0	0	989	773	43.7464629315224	559	69	10.9177215189873
2	76280816	76280816	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	782	0	0	1051	2	0.189753320683112	452	0	0
2	77312464	77312464	G	A	SNP	LRRTM4	ENST00000409911	human	ensembl	70_37	-1	known	intronic	c.1555-336422	e3-336422	0.000	-	-	-	no_errors	LRRTM4	HGNC	ENSG00000176204	tier2	877	0	0	647	490	43.0958663148637	288	75	20.6611570247934
2	77582697	77582697	A	G	SNP	LRRTM4	ENST00000409911	human	ensembl	70_37	-1	known	intronic	c.1554+162747	e2+162747	0.001	-	-	-	no_errors	LRRTM4	HGNC	ENSG00000176204	tier2	999	1	0.1	831	350	29.6359017781541	438	0	0
2	78573743	78573743	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1122	0	0	1471	2	0.135777325186694	449	1	0.222222222222222
2	78677231	78677231	C	A	SNP	ENSG00000214429	ENST00000434498	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37011	NULL	0.015	-	-	-	no_coding_region:pseudogene	AC064872.1	Clone_based_vega_gene	ENSG00000214429	tier4	1626	3	0.18359853121175	2251	3	0.132860938883968	414	10	2.33100233100233
2	78741771	78741771	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	987	0	0	972	108	10	509	0	0
2	79030763	79030763	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1012	0	0	1437	4	0.277585010409438	519	1	0.191570881226054
2	79852265	79852265	G	A	SNP	CTNNA2	ENST00000361291	human	ensembl	70_37	+1	known	intronic	c.98-26413	e2-26413	0.000	-	-	-	no_errors	CTNNA2	HGNC	ENSG00000066032	tier2	1392	1	0.0717360114777618	964	776	44.5464982778416	420	143	25.0437828371278
2	80204884	80204884	T	C	SNP	CTNNA2	ENST00000361291	human	ensembl	70_37	+1	known	intronic	c.1158+67961	e7+67961	0.000	-	-	-	no_errors	CTNNA2	HGNC	ENSG00000066032	tier2	1435	0	0	1805	2	0.110619469026549	592	2	0.336700336700337
2	80204902	80204902	C	T	SNP	CTNNA2	ENST00000361291	human	ensembl	70_37	+1	known	intronic	c.1158+67979	e7+67979	0.001	-	-	-	no_errors	CTNNA2	HGNC	ENSG00000066032	tier2	1323	0	0	1665	2	0.11983223487118	536	0	0
2	80684711	80684711	G	A	SNP	CTNNA2	ENST00000361291	human	ensembl	70_37	+1	known	intronic	c.1392+37985	e9+37985	0.000	-	-	-	no_errors	CTNNA2	HGNC	ENSG00000066032	tier2	1050	0	0	1074	134	11.0835401157982	495	0	0
2	81362271	81362271	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2035	0	0	2717	33	1.2	825	0	0
2	81633950	81633950	T	G	SNP	ENSG00000231722	ENST00000436549	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*11897	NULL	0.001	-	-	-	no_coding_region:pseudogene	AC012075.1	Clone_based_vega_gene	ENSG00000231722	tier4	834	0	0	1073	4	0.371402042711235	378	1	0.263852242744063
2	82458855	82458855	G	T	SNP	ENSG00000252897	ENST00000517088	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-36881	NULL	0.000	-	-	-	no_errors	U6	RFAM	ENSG00000252897	tier4	1319	0	0	1681	4	0.237247924080664	650	4	0.611620795107034
2	83314935	83314935	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	810	0	0	1142	3	0.262008733624454	421	0	0
2	83695957	83695957	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	927	0	0	700	552	44.0894568690096	372	95	20.3426124197002
2	85287546	85287546	T	G	SNP	KCMF1	ENST00000409785	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*7014	NULL	0.020	-	-	-	no_errors	KCMF1	HGNC	ENSG00000176407	tier2	792	0	0	1223	3	0.244698205546493	405	0	0
2	85319150	85319150	T	C	SNP	TCF7L1	ENST00000282111	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-41658	NULL	0.006	-	-	-	no_errors	TCF7L1	HGNC	ENSG00000152284	tier4	553	0	0	852	2	0.234192037470726	365	0	0
2	85421158	85421158	C	T	SNP	TCF7L1	ENST00000282111	human	ensembl	70_37	+1	known	intronic	c.441+59585	e3+59585	0.000	-	-	-	no_errors	TCF7L1	HGNC	ENSG00000152284	tier2	851	0	0	657	521	44.2275042444822	357	83	18.8636363636364
2	85572350	85572350	C	T	SNP	RETSAT	ENST00000295802	human	ensembl	70_37	-1	known	intronic	c.1118-495	e7-495	0.000	-	-	-	no_errors	RETSAT	HGNC	ENSG00000042445	tier2	570	1	0.175131348511384	487	322	39.7040690505549	308	49	13.6490250696379
2	86036187	86036187	T	C	SNP	LOC284950	ENST00000366278	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6066	NULL	0.001	-	-	-	no_errors	AC105053.3	Clone_based_vega_gene	ENSG00000229498	tier2	863	0	0	1404	2	0.142247510668563	481	1	0.20746887966805
2	86521271	86521271	A	G	SNP	REEP1	ENST00000538924	human	ensembl	70_37	-1	known	intronic	c.54-11906	e2-11906	0.000	-	-	-	no_errors	REEP1	HGNC	ENSG00000068615	tier4	1065	0	0	1703	2	0.117302052785924	492	0	0
2	86614454	86614454	G	A	SNP	REEP1	ENST00000538924	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49255	NULL	0.113	-	-	-	no_errors	REEP1	HGNC	ENSG00000068615	tier4	959	2	0.208116545265349	726	611	45.6651718983558	535	79	12.8664495114007
2	87051310	87051310	T	A	SNP	CD8B	ENST00000331469	human	ensembl	70_37	-1	known	intronic	c.621-8469	e6-8469	0.000	-	-	-	no_errors	CD8B	HGNC	ENSG00000172116	tier2	154	0	0	209	4	1.77777777777778	63	2	2.85714285714286
2	87392663	87392663	A	C	SNP	ENSG00000204745	ENST00000454465	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC083899.3	Clone_based_vega_gene	ENSG00000204745	tier4	700	0	0	1047	3	0.285714285714286	321	3	0.925925925925926
2	88460897	88460897	C	A	SNP	THNSL2	ENST00000324166	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11773	NULL	0.017	-	-	-	no_errors	THNSL2	HGNC	ENSG00000144115	tier4	707	0	0	560	443	44.0796019900497	292	79	21.1229946524064
2	88793292	88793292	T	G	SNP	TEX37	ENST00000303254	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31871	NULL	0.006	-	-	-	no_errors	TEX37	HGNC	ENSG00000172073	tier2	1175	0	0	1702	2	0.117302052785924	547	0	0
2	89403089	89403089	T	G	SNP	IGKV1-16	ENST00000479981	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3262	NULL	0.058	-	-	-	no_stop_codon	IGKV1-16	HGNC	ENSG00000240864	tier4	719	0	0	933	2	0.213447171824973	370	4	1.06951871657754
2	89852115	89852115	T	C	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-49200	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	112	0	0	126	2	1.5625	142	0	0
2	89853548	89853548	G	T	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47767	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	430	0	0	586	4	0.673400673400673	220	3	1.34529147982063
2	89853571	89853571	C	A	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47744	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	362	0	0	471	2	0.421940928270042	192	0	0
2	89867635	89867635	A	T	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33680	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	654	0	0	964	4	0.412796697626419	319	0	0
2	89867649	89867649	C	G	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33666	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	572	0	0	833	2	0.239520958083832	223	0	0
2	89875103	89875103	G	C	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26212	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	759	0	0	1023	3	0.292397660818713	278	0	0
2	89875127	89875127	T	A	SNP	IGKV1D-39	ENST00000448155	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26188	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	IGKV1D-39	HGNC	ENSG00000251546	tier4	981	0	0	1364	2	0.146305779078274	420	0	0
2	91629649	91629649	A	T	SNP	IGKV1OR2-118	ENST00000405516	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-49447	NULL	0.007	-	-	-	no_coding_region:pseudogene	IGKV1OR2-118	HGNC	ENSG00000219041	tier4	2477	50	1.97784810126582	2959	77	2.53623188405797	1776	111	5.88235294117647
2	91821900	91821900	C	A	SNP	RNA5SP100	ENST00000410903	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40983	NULL	0.019	-	-	-	no_errors	RNA5SP100	HGNC	ENSG00000222835	tier4	1718	0	0	2157	2	0.0926354793886058	1100	1	0.0908265213442325
2	91869842	91869842	T	C	SNP	LOC654342	ENST00000271699	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-21867	NULL	0.002	-	-	-	no_coding_region:pseudogene	AC027612.6	Clone_based_vega_gene	ENSG00000143429	tier4	2990	0	0	4040	5	0.123517786561265	1512	5	0.3295978905735
2	92305916	92305916	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	424	0	0	723	2	0.275862068965517	286	2	0.694444444444444
2	92305986	92305986	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	178	0	0	310	2	0.641025641025641	113	0	0
2	92308777	92308777	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	184	0	0	227	3	1.30434782608696	129	0	0
2	92321727	92321727	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	173	0	0	283	3	1.04166666666667	99	0	0
2	92323080	92323080	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	166	0	0	231	2	0.858369098712446	61	0	0
2	95526253	95526253	A	C	SNP	TEKT4	ENST00000295201	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11072	NULL	0.461	-	-	-	no_errors	TEKT4	HGNC	ENSG00000163060	tier4	1691	0	0	2422	2	0.0824402308326463	840	0	0
2	98868611	98868611	G	A	SNP	VWA3B	ENST00000477737	human	ensembl	70_37	+1	known	intronic	c.2792+1712	e19+1712	0.000	-	-	-	no_errors	VWA3B	HGNC	ENSG00000168658	tier2	201	0	0	114	111	49.3333333333333	68	16	19.047619047619
2	100222798	100222798	G	T	SNP	AFF3	ENST00000356421	human	ensembl	70_37	-1	known	intronic	c.1260-4715	e12-4715	0.000	-	-	-	no_errors	AFF3	HGNC	ENSG00000144218	tier2	792	0	0	1233	3	0.242718446601942	422	3	0.705882352941176
2	100765123	100765123	C	T	SNP	AFF3	ENST00000356421	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44207	NULL	0.046	-	-	-	no_errors	AFF3	HGNC	ENSG00000144218	tier4	954	0	0	870	622	41.6610850636303	390	0	0
2	102067720	102067720	T	C	SNP	RFX8	ENST00000376826	human	ensembl	70_37	-1	known	intronic	c.261-578	e4-578	0.001	-	-	-	no_errors	RFX8	HGNC	ENSG00000196460	tier3	864	0	0	1310	3	0.228484386900229	501	0	0
2	102426587	102426587	T	G	SNP	MAP4K4	ENST00000324219	human	ensembl	70_37	+1	known	intronic	c.181-13803	e4-13803	0.001	-	-	-	no_errors	MAP4K4	HGNC	ENSG00000071054	tier3	961	0	0	1477	2	0.135226504394861	424	5	1.16550116550117
2	102558722	102558722	C	T	SNP	IL1R2	ENST00000332549	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-66316	NULL	0.265	-	-	-	no_errors	IL1R2	HGNC	ENSG00000115590	tier4	1150	3	0.25974025974026	1366	141	9.35633709356337	562	0	0
2	104242276	104242276	C	T	SNP	ENSG00000231723	ENST00000414265	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*1988	NULL	0.078	-	-	-	no_coding_region:pseudogene	AC018880.2	Clone_based_vega_gene	ENSG00000231723	tier4	2879	1	0.0346981263011797	4112	1	0.0243072435585805	697	60	7.9155672823219
2	104893176	104893176	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1105	0	0	1457	5	0.341997264021888	517	1	0.192307692307692
2	105759235	105759235	T	C	SNP	ENSG00000231851	ENST00000432211	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44140	NULL	0.000	-	-	-	no_errors	AC104655.2	Clone_based_vega_gene	ENSG00000231851	tier3	1093	1	0.0914076782449726	788	630	44.4287729196051	465	83	15.1459854014599
2	106062062	106062062	C	G	SNP	FHL2	ENST00000322142	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-59089	NULL	0.508	-	-	-	no_errors	FHL2	HGNC	ENSG00000115641	tier4	502	0	0	744	3	0.393700787401575	255	2	0.760456273764259
2	107304678	107304678	A	C	SNP	EEF1A1P12	ENST00000443590	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*9109	NULL	0.028	-	-	-	no_coding_region:pseudogene	EEF1A1P12	HGNC	ENSG00000214199	tier4	614	0	0	760	2	0.262123197903014	287	3	1.03448275862069
2	109989260	109989260	A	C	SNP	SH3RF3	ENST00000309415	human	ensembl	70_37	+1	known	intronic	c.945+1123	e3+1123	0.000	-	-	-	no_errors	SH3RF3	HGNC	ENSG00000172985	tier3	515	0	0	336	227	40.2482269503546	246	52	17.3913043478261
2	111762428	111762428	G	C	SNP	ACOXL	ENST00000439055	human	ensembl	70_37	+1	known	intronic	c.1281+8847	e13+8847	0.016	-	-	-	no_errors	ACOXL	HGNC	ENSG00000153093	tier3	1031	0	0	1461	2	0.136425648021828	482	4	0.816326530612245
2	112500810	112500810	A	G	SNP	ENSG00000228615	ENST00000455969	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.020	-	-	-	no_coding_region:pseudogene	AC093166.3	Clone_based_vega_gene	ENSG00000228615	tier4	112	0	0	160	4	2.4390243902439	69	0	0
2	112556609	112556609	T	A	SNP	ANAPC1	ENST00000341068	human	ensembl	70_37	-1	known	intronic	c.4296+1765	e33+1765	0.011	-	-	-	no_errors	ANAPC1	HGNC	ENSG00000153107	tier4	1293	0	0	1845	3	0.161987041036717	560	0	0
2	113231887	113231887	A	G	SNP	RGPD8	ENST00000302558	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40857	NULL	0.002	-	-	-	no_errors	RGPD8	HGNC	ENSG00000169629	tier3	1031	0	0	1536	3	0.194931773879142	405	2	0.491400491400491
2	113234736	113234736	C	T	SNP	RGPD8	ENST00000302558	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43706	NULL	0.005	-	-	-	no_errors	RGPD8	HGNC	ENSG00000169629	tier4	2808	19	0.671378091872791	4432	36	0.805369127516779	626	29	4.42748091603053
2	114022233	114022233	T	G	SNP	PAX8	ENST00000429538	human	ensembl	70_37	-1	known	intronic	c.25+13714	e1+13714	0.000	-	-	-	no_errors	PAX8	HGNC	ENSG00000125618	tier4	782	0	0	1164	3	0.25706940874036	384	1	0.25974025974026
2	114176938	114176938	A	G	SNP	CBWD2	ENST00000259199	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18508	NULL	0.423	-	-	-	no_errors	CBWD2	HGNC	ENSG00000136682	tier4	2808	0	0	4041	2	0.0494559841740851	1546	5	0.322372662798195
2	114411648	114411648	A	C	SNP	RPL23AP7	ENST00000391616	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26981	NULL	0.000	-	-	-	no_errors	RPL23AP7	HGNC	ENSG00000240356	tier4	520	0	0	817	2	0.244200244200244	298	2	0.664451827242525
2	114725318	114725318	C	T	SNP	LOC440900	ENST00000412690	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11828	NULL	0.002	-	-	-	no_errors	AC010982.1	Clone_based_vega_gene	ENSG00000234199	tier3	2259	9	0.39647577092511	3104	23	0.734589587991057	822	27	3.18021201413428
2	115159310	115159310	G	A	SNP	DPP10	ENST00000410059	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-41046	NULL	0.000	-	-	-	no_errors	DPP10	HGNC	ENSG00000175497	tier4	916	0	0	572	493	46.2910798122066	346	73	17.4224343675418
2	115165337	115165337	C	T	SNP	DPP10	ENST00000410059	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35019	NULL	0.000	-	-	-	no_errors	DPP10	HGNC	ENSG00000175497	tier3	843	0	0	517	359	40.9817351598174	364	83	18.5682326621924
2	116774747	116774747	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	326	0	0	411	3	0.72463768115942	219	1	0.454545454545455
2	117236728	117236728	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1774	1	0.0563380281690141	2164	1	0.046189376443418	726	44	5.69948186528497
2	117902035	117902035	T	A	SNP	ENSG00000239185	ENST00000459241	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-4684	NULL	0.073	-	-	-	no_errors	U7	RFAM	ENSG00000239185	tier4	1005	0	0	618	597	49.0953947368421	413	110	21.0325047801147
2	118618663	118618663	C	G	SNP	HTR5BP	ENST00000434708	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.453	-	-	-	no_errors	HTR5BP	HGNC	ENSG00000125631	tier4	933	0	0	1244	3	0.240384615384615	436	1	0.22883295194508
2	119782056	119782056	C	T	SNP	MARCO	ENST00000327097	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*29960	NULL	0.000	-	-	-	no_errors	MARCO	HGNC	ENSG00000019169	tier3	413	0	0	276	218	44.1295546558704	165	37	18.3168316831683
2	119863082	119863082	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	507	0	0	635	2	0.313971742543171	212	0	0
2	120056395	120056395	G	A	SNP	STEAP3-AS1	ENST00000454260	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49748	NULL	0.033	-	-	-	no_errors	STEAP3-AS1	HGNC	ENSG00000229867	tier4	1117	0	0	1073	471	30.5051813471503	578	0	0
2	120217340	120217340	A	C	SNP	SCTR	ENST00000019103	human	ensembl	70_37	-1	known	intronic	c.790+2083	e7+2083	0.000	-	-	-	no_errors	SCTR	HGNC	ENSG00000080293	tier2	940	0	0	1435	2	0.139082058414465	591	0	0
2	122134113	122134113	T	G	SNP	CLASP1	ENST00000263710	human	ensembl	70_37	-1	known	intronic	c.3642+962	e33+962	0.000	-	-	-	no_errors	CLASP1	HGNC	ENSG00000074054	tier4	125	0	0	198	2	0.952380952380952	91	1	1.04166666666667
2	123561280	123561280	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1252	0	0	992	382	27.802037845706	567	2	0.351493848857645
2	124164801	124164801	G	T	SNP	ENSG00000226708	ENST00000451749	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36041	NULL	0.016	-	-	-	no_errors	AC073409.1	Clone_based_vega_gene	ENSG00000226708	tier4	594	0	0	406	315	43.6893203883495	342	45	11.5681233933162
2	124362042	124362042	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1646	0	0	2069	5	0.240847784200385	725	2	0.275103163686382
2	125221302	125221302	G	A	SNP	CNTNAP5	ENST00000431078	human	ensembl	70_37	+1	known	intronic	c.919-11014	e7-11014	0.000	-	-	-	no_errors	CNTNAP5	HGNC	ENSG00000155052	tier4	867	0	0	606	471	43.7325905292479	466	62	11.7424242424242
2	125442606	125442606	A	C	SNP	CNTNAP5	ENST00000431078	human	ensembl	70_37	+1	known	intronic	c.2074+37071	e13+37071	0.000	-	-	-	no_errors	CNTNAP5	HGNC	ENSG00000155052	tier3	739	0	0	970	6	0.614754098360656	323	1	0.308641975308642
2	126213212	126213212	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1460	0	0	1329	579	30.3459119496855	690	0	0
2	129577236	129577236	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	449	0	0	395	331	45.5922865013774	230	84	26.7515923566879
2	129860193	129860193	G	A	SNP	ENSG00000238277	ENST00000413403	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-30895	NULL	0.000	-	-	-	no_errors	AC068483.1	Clone_based_vega_gene	ENSG00000238277	tier3	425	0	0	382	147	27.7882797731569	267	0	0
2	132668765	132668765	T	G	SNP	ENSG00000244337	ENST00000421696	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47085	NULL	0.000	-	-	-	no_errors	AJ239322.3	Clone_based_vega_gene	ENSG00000244337	tier3	1498	0	0	2066	2	0.096665055582407	590	0	0
2	133093779	133093779	A	T	SNP	ENSG00000230803	ENST00000440802	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41829	NULL	0.009	-	-	-	no_errors	AC097532.2	Clone_based_vega_gene	ENSG00000230803	tier3	1671	0	0	2132	4	0.187090739008419	996	2	0.2
2	134560136	134560136	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	296	0	0	386	3	0.77120822622108	93	0	0
2	134904323	134904323	T	G	SNP	MGAT5	ENST00000409645	human	ensembl	70_37	+1	known	intronic	c.1+26461	e0+26461	0.000	-	-	-	no_errors	MGAT5	HGNC	ENSG00000152127	tier3	660	0	0	882	3	0.338983050847458	343	0	0
2	135629144	135629144	A	G	SNP	ACMSD	ENST00000356140	human	ensembl	70_37	+1	known	intronic	c.676+514	e7+514	0.000	-	-	-	no_errors	ACMSD	HGNC	ENSG00000153086	tier4	1414	1	0.0706713780918728	1062	808	43.1623931623932	532	96	15.2380952380952
2	136359197	136359197	T	A	SNP	R3HDM1	ENST00000264160	human	ensembl	70_37	+1	known	intronic	c.1-873	e1-873	0.033	-	-	-	no_errors	R3HDM1	HGNC	ENSG00000048991	tier3	1585	0	0	2348	1	0.042571306939123	725	4	0.548696844993141
2	137814041	137814041	G	A	SNP	THSD7B	ENST00000272643	human	ensembl	70_37	+1	known	missense	c.191	p.R64Q	1.000	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	-	no_errors	THSD7B	HGNC	ENSG00000144229	tier1	1057	2	0.188679245283019	746	661	46.9793887704335	407	108	20.9708737864078
2	137814041	137814041	G	A	SNP	THSD7B	ENST00000272643	human	ensembl	70_37	+1	known	missense	c.191	p.R64Q	1.000	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	-	no_errors	THSD7B	HGNC	ENSG00000144229	tier1	1469	2	0.135869565217391	905	827	47.7482678983834	700	188	21.1711711711712
2	137821253	137821253	T	C	SNP	THSD7B	ENST00000272643	human	ensembl	70_37	+1	known	intronic	c.950+6453	e2+6453	0.011	-	-	-	no_errors	THSD7B	HGNC	ENSG00000144229	tier4	629	0	0	823	1	0.121359223300971	281	2	0.706713780918728
2	137898700	137898700	A	G	SNP	THSD7B	ENST00000272643	human	ensembl	70_37	+1	known	intronic	c.1370-19083	e5-19083	0.000	-	-	-	no_errors	THSD7B	HGNC	ENSG00000144229	tier4	632	0	0	833	3	0.358851674641148	286	0	0
2	138111700	138111700	C	T	SNP	THSD7B	ENST00000272643	human	ensembl	70_37	+1	known	intronic	c.2501-51483	e12-51483	0.000	-	-	-	no_errors	THSD7B	HGNC	ENSG00000144229	tier4	755	2	0.264200792602378	561	396	41.3793103448276	335	65	16.25
2	138203179	138203179	A	G	SNP	THSD7B	ENST00000272643	human	ensembl	70_37	+1	known	intronic	c.2960-5236	e14-5236	0.003	-	-	-	no_errors	THSD7B	HGNC	ENSG00000144229	tier4	727	0	0	990	1	0.100908173562059	393	4	1.00755667506297
2	138577817	138577817	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1701	0	0	2402	2	0.0831600831600832	713	2	0.278940027894003
2	139784653	139784653	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	915	0	0	1182	3	0.253164556962025	362	0	0
2	140300863	140300863	A	C	SNP	ENSG00000206901	ENST00000384174	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*31738	NULL	0.004	-	-	-	no_errors	SNORA72	RFAM	ENSG00000206901	tier4	1471	0	0	971	853	46.7397260273973	476	115	19.327731092437
2	140701976	140701976	C	G	SNP	ENSG00000240977	ENST00000489055	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-38277	NULL	0.000	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000240977	tier3	1075	0	0	768	534	40.9195402298851	439	108	19.7440585009141
2	140959252	140959252	T	C	SNP	LRP1B	ENST00000389484	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*31503	NULL	0.001	-	-	-	no_errors	LRP1B	HGNC	ENSG00000168702	tier3	820	0	0	513	408	44.2516268980477	356	61	14.6282973621103
2	141395945	141395945	G	A	SNP	LRP1B	ENST00000389484	human	ensembl	70_37	-1	known	intronic	c.6800-36737	e42-36737	0.000	-	-	-	no_errors	LRP1B	HGNC	ENSG00000168702	tier3	1163	0	0	1724	3	0.173510699826489	515	6	1.12994350282486
2	143954167	143954167	C	T	SNP	ARHGAP15	ENST00000295095	human	ensembl	70_37	+1	known	intronic	c.166-5536	e2-5536	0.038	-	-	-	no_errors	ARHGAP15	HGNC	ENSG00000075884	tier3	1429	0	0	1998	3	0.149925037481259	632	0	0
2	144454649	144454649	T	G	SNP	ARHGAP15	ENST00000295095	human	ensembl	70_37	+1	known	intronic	c.1139-6339	e12-6339	0.022	-	-	-	no_errors	ARHGAP15	HGNC	ENSG00000075884	tier3	1553	0	0	2138	1	0.0467289719626168	677	4	0.587371512481645
2	144794302	144794302	T	G	SNP	GTDC1	ENST00000344850	human	ensembl	70_37	-1	known	intronic	c.522-29200	e4-29200	0.000	-	-	-	no_errors	GTDC1	HGNC	ENSG00000121964	tier3	901	0	0	1237	2	0.161420500403551	441	3	0.675675675675676
2	145082419	145082419	T	A	SNP	GTDC1	ENST00000542155	human	ensembl	70_37	-1	known	intronic	c.1+7587	e0+7587	0.131	-	-	-	no_errors	GTDC1	HGNC	ENSG00000121964	tier3	1258	0	0	1850	5	0.269396551724138	607	2	0.32626427406199
2	145206986	145206986	T	C	SNP	ZEB2	ENST00000303660	human	ensembl	70_37	-1	known	intronic	c.74-19393	e2-19393	0.002	-	-	-	no_errors	ZEB2	HGNC	ENSG00000169554	tier3	1709	0	0	2629	3	0.113981762917933	709	0	0
2	146422560	146422560	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1989	0	0	2736	9	0.327868852459016	680	4	0.583090379008746
2	147687077	147687077	G	T	SNP	ENSG00000227902	ENST00000436245	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*27577	NULL	0.000	-	-	-	no_errors	AC062032.1	Clone_based_vega_gene	ENSG00000227902	tier3	693	0	0	832	2	0.239808153477218	320	0	0
2	148603747	148603747	A	T	SNP	ACVR2A	ENST00000241416	human	ensembl	70_37	+1	known	intronic	c.55+971	e1+971	0.129	-	-	-	no_errors	ACVR2A	HGNC	ENSG00000121989	tier2	1037	0	0	700	514	42.3045267489712	408	83	16.9042769857434
2	148773498	148773498	C	G	SNP	ORC4	ENST00000264169	human	ensembl	70_37	-1	known	intronic	c.1+5519	e0+5519	0.387	-	-	-	no_errors	ORC4	HGNC	ENSG00000115947	tier4	280	0	0	400	1	0.249376558603491	233	5	2.10084033613445
2	150898763	150898763	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	910	0	0	626	564	47.3949579831933	481	72	12.9263913824057
2	151045539	151045539	A	C	SNP	ENSG00000230645	ENST00000437118	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.874	-	-	-	no_errors	AC016682.1	Clone_based_vega_gene	ENSG00000230645	tier3	788	0	0	1056	2	0.189035916824197	361	1	0.276243093922652
2	152892519	152892519	T	C	SNP	CACNB4	ENST00000339254	human	ensembl	70_37	-1	known	intronic	c.147+62325	e2+62325	0.003	-	-	-	no_errors	CACNB4	HGNC	ENSG00000182389	tier4	2293	0	0	3646	2	0.0547795124623391	796	3	0.375469336670839
2	152943291	152943291	T	G	SNP	CACNB4	ENST00000339254	human	ensembl	70_37	-1	known	intronic	c.147+11553	e2+11553	0.000	-	-	-	no_errors	CACNB4	HGNC	ENSG00000182389	tier3	962	0	0	1309	3	0.228658536585366	606	1	0.164744645799012
2	153019710	153019710	A	G	SNP	STAM2	ENST00000263904	human	ensembl	70_37	-1	known	intronic	c.40+12407	e1+12407	0.137	-	-	-	no_errors	STAM2	HGNC	ENSG00000115145	tier4	292	0	0	467	3	0.636942675159236	164	0	0
2	153814077	153814077	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1137	0	0	1544	3	0.193923723335488	559	2	0.353982300884956
2	156175016	156175016	G	A	SNP	ENSG00000206718	ENST00000383991	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-11917	NULL	0.007	-	-	-	no_errors	U6	RFAM	ENSG00000206718	tier4	626	0	0	435	321	42.3482849604222	335	23	6.38888888888889
2	156384668	156384668	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1038	0	0	1466	4	0.272108843537415	602	0	0
2	156529893	156529893	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	706	0	0	988	5	0.503018108651911	269	1	0.364963503649635
2	157084864	157084864	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1357	0	0	1876	2	0.106496272630458	668	0	0
2	157776843	157776843	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1888	3	0.158311345646438	1312	1028	43.9316239316239	618	144	18.848167539267
2	158453263	158453263	G	A	SNP	ACVR1C	ENST00000243349	human	ensembl	70_37	-1	known	intronic	c.74-9334	e2-9334	0.000	-	-	-	no_errors	ACVR1C	HGNC	ENSG00000123612	tier3	825	0	0	1048	2	0.19047619047619	451	0	0
2	159048009	159048009	T	G	SNP	CCDC148	ENST00000283233	human	ensembl	70_37	-1	known	intronic	c.1371-12501	e12-12501	0.000	-	-	-	no_errors	CCDC148	HGNC	ENSG00000153237	tier3	1197	0	0	1712	2	0.116618075801749	571	2	0.349040139616056
2	159340082	159340082	T	G	SNP	PKP4	ENST00000389759	human	ensembl	70_37	+1	known	intronic	c.1+26352	e0+26352	0.001	-	-	-	no_errors	PKP4	HGNC	ENSG00000144283	tier3	1141	0	0	1509	3	0.198412698412698	408	3	0.72992700729927
2	159418999	159418999	T	G	SNP	PKP4	ENST00000389759	human	ensembl	70_37	+1	known	intronic	c.133-14784	e2-14784	0.004	-	-	-	no_errors	PKP4	HGNC	ENSG00000144283	tier4	1279	0	0	1663	2	0.12012012012012	589	0	0
2	161598305	161598305	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1290	1	0.0773395204949729	1047	810	43.5952637244349	514	106	17.0418006430868
2	164445440	164445440	C	A	SNP	FIGN	ENST00000333129	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*20622	NULL	0.004	-	-	-	no_errors	FIGN	HGNC	ENSG00000182263	tier3	821	0	0	1036	2	0.192678227360308	450	0	0
2	165126498	165126498	T	A	SNP	ENSG00000237844	ENST00000429636	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.101	-	-	-	no_errors	AC092684.1	Clone_based_vega_gene	ENSG00000237844	tier4	1011	0	0	1167	181	13.4272997032641	641	0	0
2	166411654	166411654	A	C	SNP	CSRNP3	ENST00000314499	human	ensembl	70_37	+1	known	intronic	c.1+37183	e0+37183	0.000	-	-	-	no_errors	CSRNP3	HGNC	ENSG00000178662	tier4	865	0	0	1132	2	0.17636684303351	431	0	0
2	166495299	166495299	T	C	SNP	CSRNP3	ENST00000314499	human	ensembl	70_37	+1	known	intronic	c.149-18972	e2-18972	0.002	-	-	-	no_errors	CSRNP3	HGNC	ENSG00000178662	tier3	1018	0	0	1189	2	0.167926112510495	511	0	0
2	166668289	166668289	T	C	SNP	ENSG00000229195	ENST00000428888	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC009495.4	Clone_based_vega_gene	ENSG00000229195	tier4	753	0	0	1073	3	0.278551532033426	390	2	0.510204081632653
2	167342429	167342429	G	C	SNP	SCN7A	ENST00000409855	human	ensembl	70_37	-1	known	intronic	c.1+937	e0+937	0.000	-	-	-	no_errors	SCN7A	HGNC	ENSG00000136546	tier3	1590	3	0.188205771643664	1193	880	42.4300867888139	557	141	20.1428571428571
2	168068730	168068730	A	C	SNP	XIRP2	ENST00000295237	human	ensembl	70_37	+1	known	intronic	c.723+1325	e3+1325	0.000	-	-	-	no_errors	XIRP2	HGNC	ENSG00000163092	tier3	586	0	0	796	1	0.125470514429109	254	2	0.78125
2	169293988	169293988	T	A	SNP	CERS6	ENST00000305747	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18971	NULL	0.003	-	-	-	no_errors	CERS6	HGNC	ENSG00000172292	tier3	910	0	0	630	522	45.3125	402	99	19.6819085487078
2	170719660	170719660	A	C	SNP	UBR3	ENST00000272793	human	ensembl	70_37	+1	known	intronic	c.546-9086	e2-9086	0.001	-	-	-	no_errors	UBR3	HGNC	ENSG00000144357	tier3	892	0	0	1365	4	0.291970802919708	386	1	0.258397932816537
2	173666788	173666788	C	G	SNP	RAPGEF4	ENST00000397081	human	ensembl	70_37	+1	known	intronic	c.297+4447	e3+4447	0.000	-	-	-	no_errors	RAPGEF4	HGNC	ENSG00000091428	tier3	1552	0	0	1059	875	45.2196382428941	571	94	13.9259259259259
2	173880101	173880101	C	A	SNP	RAPGEF4	ENST00000397081	human	ensembl	70_37	+1	known	intronic	c.1809+759	e18+759	0.000	-	-	-	no_errors	RAPGEF4	HGNC	ENSG00000091428	tier3	896	1	0.111482720178372	695	571	45.0670876085241	376	105	21.8295218295218
2	174259097	174259097	A	G	SNP	ENSG00000236391	ENST00000437243	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-38161	NULL	0.000	-	-	-	no_errors	AC092573.3	Clone_based_vega_gene	ENSG00000236391	tier3	923	0	0	1305	4	0.305576776165011	495	4	0.801603206412826
2	174312841	174312841	T	A	SNP	ENSG00000213148	ENST00000456671	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-16301	NULL	0.001	-	-	-	no_coding_region:pseudogene	AC073465.1	Clone_based_vega_gene	ENSG00000213148	tier4	1894	0	0	2650	2	0.0753579502637528	629	0	0
2	174503315	174503315	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1449	0	0	987	781	44.1492368569813	569	114	16.6910688140556
2	174975368	174975368	T	G	SNP	OLA1	ENST00000284719	human	ensembl	70_37	-1	known	intronic	c.728+12540	e6+12540	0.029	-	-	-	no_errors	OLA1	HGNC	ENSG00000138430	tier4	1632	0	0	2593	2	0.0769822940723634	624	0	0
2	175911483	175911483	C	T	SNP	CHN1	ENST00000409900	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41843	NULL	0.036	-	-	-	no_errors	CHN1	HGNC	ENSG00000128656	tier4	1506	0	0	1075	785	42.2043010752688	596	123	16.9655172413793
2	176126795	176126795	A	T	SNP	ENSG00000229066	ENST00000438963	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.068	-	-	-	no_errors	AC096649.3	Clone_based_vega_gene	ENSG00000229066	tier3	1494	0	0	1120	896	44.4224095190878	606	133	17.9972936400541
2	176452443	176452443	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	758	0	0	926	3	0.322927879440258	420	2	0.4739336492891
2	177070110	177070110	C	G	SNP	HOXD-AS1	ENST00000413969	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-16424	NULL	0.000	-	-	-	no_errors	HOXD-AS1	HGNC	ENSG00000224189	tier3	346	0	0	482	2	0.413223140495868	200	0	0
2	179228876	179228876	T	G	SNP	OSBPL6	ENST00000315022	human	ensembl	70_37	+1	known	intronic	c.1299+2334	e12+2334	0.010	-	-	-	no_errors	OSBPL6	HGNC	ENSG00000079156	tier3	1645	0	0	2471	3	0.121212121212121	683	0	0
2	179402259	179402259	T	G	SNP	TTN-AS1	ENST00000415561	human	ensembl	70_37	+1	known	splice_site	c.NULL	NULL	0.995	-	-	-	no_errors	TTN-AS1	HGNC	ENSG00000237298	tier1	787	0	0	1205	5	0.413223140495868	350	4	1.12994350282486
2	179509591	179509591	A	G	SNP	TTN	ENST00000342992	human	ensembl	70_37	-1	known	intronic	c.32705-248	e166-248	0.000	-	-	-	no_errors	TTN	HGNC	ENSG00000155657	tier3	1092	0	0	1515	6	0.394477317554241	450	0	0
2	181141427	181141427	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	708	0	0	827	15	1.77935943060498	399	0	0
2	182578139	182578139	T	G	SNP	NEUROD1	ENST00000295108	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34552	NULL	0.000	-	-	-	no_errors	NEUROD1	HGNC	ENSG00000162992	tier4	1237	0	0	1812	2	0.110253583241455	483	0	0
2	183585706	183585706	A	G	SNP	DNAJC10	ENST00000264065	human	ensembl	70_37	+1	known	intronic	c.367+810	e2+810	0.000	-	-	-	no_errors	DNAJC10	HGNC	ENSG00000077232	tier3	1349	0	0	1803	2	0.110803324099723	739	2	0.269905533063428
2	184478722	184478722	G	T	SNP	ENSG00000177855	ENST00000453625	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5875	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC074182.1	Clone_based_vega_gene	ENSG00000177855	tier3	1070	1	0.0933706816059757	1156	20	1.70068027210884	372	76	16.9642857142857
2	185066510	185066510	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	890	0	0	1221	2	0.163532297628782	469	0	0
2	185597292	185597292	T	G	SNP	ZNF804A	ENST00000302277	human	ensembl	70_37	+1	known	intronic	c.111+133495	e1+133495	0.085	-	-	-	no_errors	ZNF804A	HGNC	ENSG00000170396	tier4	1449	0	0	985	853	46.4091403699674	561	122	17.8102189781022
2	188889577	188889577	T	G	SNP	ENSG00000231689	ENST00000434418	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	AC068718.1	Clone_based_vega_gene	ENSG00000231689	tier3	760	0	0	900	5	0.552486187845304	398	0	0
2	190054833	190054833	C	A	SNP	COL5A2	ENST00000374866	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10503	NULL	0.003	-	-	-	no_errors	COL5A2	HGNC	ENSG00000204262	tier3	1393	0	0	1857	2	0.10752688172043	665	2	0.299850074962519
2	190091536	190091536	T	G	SNP	COL5A2	ENST00000374866	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-47206	NULL	0.000	-	-	-	no_errors	COL5A2	HGNC	ENSG00000204262	tier4	987	0	0	1368	2	0.145985401459854	467	1	0.213675213675214
2	190324644	190324644	T	A	SNP	WDR75	ENST00000314761	human	ensembl	70_37	+1	known	intronic	c.778+494	e8+494	0.000	-	-	-	no_errors	WDR75	HGNC	ENSG00000115368	tier4	2017	0	0	1583	1249	44.1031073446328	661	135	16.9597989949749
2	190412755	190412755	C	A	SNP	SLC40A1	ENST00000261024	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*13849	NULL	0.015	-	-	-	no_errors	SLC40A1	HGNC	ENSG00000138449	tier3	912	0	0	1262	3	0.237154150197628	430	3	0.69284064665127
2	191312789	191312789	T	G	SNP	MFSD6	ENST00000281416	human	ensembl	70_37	+1	known	intronic	c.1532+10502	e1+10502	0.000	-	-	-	no_errors	MFSD6	HGNC	ENSG00000151690	tier3	952	0	0	1428	3	0.209643605870021	420	2	0.4739336492891
2	192401934	192401934	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	394	0	0	518	2	0.384615384615385	235	1	0.423728813559322
2	192405579	192405579	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	498	2	0.4	351	373	51.5193370165746	262	55	17.3501577287066
2	192669910	192669910	A	G	SNP	ENSG00000225884	ENST00000413304	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC098872.3	Clone_based_vega_gene	ENSG00000225884	tier3	913	0	0	1271	3	0.235478806907378	460	5	1.07066381156317
2	193333003	193333003	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	836	0	0	610	430	41.3461538461538	353	83	19.0366972477064
2	193695569	193695569	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1534	1	0.0651465798045603	1035	842	44.8349307774228	511	113	17.8233438485804
2	196048141	196048141	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	761	0	0	1032	5	0.482160077145612	330	1	0.302114803625378
2	196126690	196126690	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1285	0	0	1889	3	0.158562367864693	558	0	0
2	196372554	196372554	T	G	SNP	ENSG00000223466	ENST00000452381	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25205	NULL	0.187	-	-	-	no_errors	AC064834.2	Clone_based_vega_gene	ENSG00000223466	tier4	492	0	0	741	2	0.269179004037685	353	4	1.12044817927171
2	197006572	197006572	T	G	SNP	STK17B	ENST00000263955	human	ensembl	70_37	-1	known	intronic	c.608-551	e5-551	0.000	-	-	-	no_errors	STK17B	HGNC	ENSG00000081320	tier3	1084	0	0	1652	3	0.181159420289855	511	0	0
2	197178512	197178512	G	C	SNP	HECW2	ENST00000260983	human	ensembl	70_37	-1	known	intronic	c.2434+3486	e9+3486	0.003	-	-	-	no_errors	HECW2	HGNC	ENSG00000138411	tier4	1208	0	0	1871	2	0.106666666666667	333	0	0
2	198206536	198206536	G	T	SNP	ANKRD44	ENST00000409153	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31208	NULL	0.003	-	-	-	no_errors	ANKRD44	HGNC	ENSG00000065413	tier4	667	0	0	1039	2	0.191938579654511	324	0	0
2	199296998	199296998	G	A	SNP	PLCL1	ENST00000472193	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	PLCL1	HGNC	ENSG00000115896	tier4	1059	0	0	732	684	48.2709950599859	514	88	14.6179401993355
2	199348660	199348660	C	G	SNP	PLCL1	ENST00000472193	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	PLCL1	HGNC	ENSG00000115896	tier3	1082	1	0.0923361034164358	775	569	42.2734026745914	490	96	16.382252559727
2	199759759	199759759	G	A	SNP	ENSG00000231557	ENST00000456031	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.242	-	-	-	no_errors	AC018717.1	Clone_based_vega_gene	ENSG00000231557	tier4	945	0	0	1221	3	0.244299674267101	523	0	0
2	200137506	200137506	G	A	SNP	SATB2	ENST00000260926	human	ensembl	70_37	-1	known	intronic	c.1741-111	e10-111	0.000	-	-	-	no_errors	SATB2	HGNC	ENSG00000119042	tier3	1383	0	0	868	684	44.015444015444	606	105	14.7679324894515
2	200897450	200897450	A	C	SNP	C2orf47	ENST00000435773	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*24247	NULL	0.000	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	C2orf47	HGNC	ENSG00000162972	tier4	1504	0	0	1947	4	0.204813108038914	571	5	0.868055555555556
2	201634962	201634962	T	C	SNP	AOX2P	ENST00000467645	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	AOX2P	HGNC	ENSG00000243478	tier3	654	0	0	935	2	0.213447171824973	321	1	0.31055900621118
2	201682954	201682954	T	C	SNP	BZW1	ENST00000409600	human	ensembl	70_37	+1	known	silent	c.657	p.F219	1.000	NULL	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	-	no_errors	BZW1	HGNC	ENSG00000082153	tier1	841	0	0	1306	4	0.305343511450382	416	0	0
2	201818093	201818093	G	A	SNP	ORC2	ENST00000234296	human	ensembl	70_37	-1	known	intronic	c.239-3727	e3-3727	0.156	-	-	-	no_errors	ORC2	HGNC	ENSG00000115942	tier3	488	0	0	747	3	0.399467376830892	254	0	0
2	201916270	201916270	A	C	SNP	FAM126B	ENST00000418596	human	ensembl	70_37	-1	known	intronic	c.1-5954	e1-5954	0.188	-	-	-	no_errors	FAM126B	HGNC	ENSG00000155744	tier4	791	0	0	1209	2	0.165152766308836	345	2	0.576368876080692
2	202348612	202348612	A	C	SNP	TRAK2	ENST00000332624	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-63382	NULL	0.148	-	-	-	no_errors	TRAK2	HGNC	ENSG00000115993	tier4	718	0	0	1028	5	0.484027105517909	334	0	0
2	203191740	203191740	A	G	SNP	BMPR2	ENST00000374580	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-50458	NULL	0.002	-	-	-	no_errors	BMPR2	HGNC	ENSG00000204217	tier4	1863	4	0.214132762312634	1738	1449	45.4659554439912	456	131	22.3168654173765
2	203386547	203386547	A	C	SNP	BMPR2	ENST00000374580	human	ensembl	70_37	+1	known	intronic	c.967+1623	e7+1623	0.022	-	-	-	no_errors	BMPR2	HGNC	ENSG00000204217	tier4	798	0	0	1195	3	0.250208507089241	399	0	0
2	203557714	203557714	C	A	SNP	FAM117B	ENST00000392238	human	ensembl	70_37	+1	known	intronic	c.602-2890	e2-2890	0.342	-	-	-	no_errors	FAM117B	HGNC	ENSG00000138439	tier4	1540	0	0	2523	9	0.355309909198579	694	1	0.143884892086331
2	204738837	204738837	A	C	SNP	CTLA4	ENST00000302823	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*1302	NULL	0.005	-	-	-	no_errors	CTLA4	HGNC	ENSG00000163599	tier3	974	0	0	1366	2	0.146198830409357	437	2	0.453514739229025
2	206248435	206248435	A	T	SNP	PARD3B	ENST00000406610	human	ensembl	70_37	+1	known	intronic	c.2631-17302	e19-17302	0.000	-	-	-	no_errors	PARD3B	HGNC	ENSG00000116117	tier4	1232	0	0	926	718	43.6739659367397	476	120	20.066889632107
2	206679955	206679955	A	C	SNP	NRP2	ENST00000360409	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*20173	NULL	0.000	-	-	-	no_errors	NRP2	HGNC	ENSG00000118257	tier3	546	0	0	722	2	0.275862068965517	225	1	0.442477876106195
2	207213742	207213742	A	G	SNP	ENSG00000269633	ENST00000598562	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-6721	NULL	0.514	-	-	-	no_errors	AC017081.1	Clone_based_ensembl_gene	ENSG00000269633	tier4	496	0	0	362	340	48.4330484330484	261	61	18.944099378882
2	207631281	207631281	A	C	SNP	FASTKD2	ENST00000236980	human	ensembl	70_37	+1	known	intronic	c.1-87	e1-87	0.000	-	-	-	no_errors	FASTKD2	HGNC	ENSG00000118246	tier3	2436	0	0	3495	2	0.0571755288736421	839	0	0
2	209113112	209113112	C	T	SNP	IDH1	ENST00000345146	human	ensembl	70_37	-1	known	missense	c.395	p.R132H	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413	tier1	1034	1	0.0966183574879227	1012	517	33.8129496402878	572	0	0
2	209113112	209113112	C	T	SNP	IDH1	ENST00000345146	human	ensembl	70_37	-1	known	missense	c.395	p.R132H	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413	tier1	1279	1	0.078125	1154	571	33.1014492753623	783	0	0
2	210048597	210048597	G	A	SNP	MEAF6P1	ENST00000416092	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*1855	NULL	0.005	-	-	-	no_coding_region:pseudogene	MEAF6P1	HGNC	ENSG00000240286	tier4	1020	0	0	820	407	33.1703341483293	523	0	0
2	210784579	210784579	G	C	SNP	UNC80	ENST00000439458	human	ensembl	70_37	+1	known	intronic	c.5145+1192	e32+1192	0.001	-	-	-	no_errors	UNC80	HGNC	ENSG00000144406	tier3	473	0	0	660	3	0.452488687782805	257	3	1.14942528735632
2	211376560	211376560	A	G	SNP	CPS1	ENST00000430249	human	ensembl	70_37	+1	known	intronic	c.3+34070	e1+34070	0.001	-	-	-	no_errors	CPS1	HGNC	ENSG00000021826	tier3	1022	0	0	735	552	42.7906976744186	412	91	18.0914512922465
2	211441150	211441150	C	A	SNP	CPS1	ENST00000430249	human	ensembl	70_37	+1	known	missense	c.335	p.A112D	0.076	pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	-	no_errors	CPS1	HGNC	ENSG00000021826	tier1	1334	1	0.0748502994011976	977	902	47.9787234042553	492	116	19.0789473684211
2	211441150	211441150	C	A	SNP	CPS1	ENST00000430249	human	ensembl	70_37	+1	known	missense	c.335	p.A112D	0.076	pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	-	no_errors	CPS1	HGNC	ENSG00000021826	tier1	1797	1	0.0555864369093941	1179	1052	47.1326164874552	882	183	17.1830985915493
2	212689658	212689658	C	A	SNP	ERBB4	ENST00000342788	human	ensembl	70_37	-1	known	intronic	c.422-36774	e4-36774	0.000	-	-	-	no_errors	ERBB4	HGNC	ENSG00000178568	tier3	1454	1	0.0687285223367698	1918	1	0.0520833333333333	633	68	9.70042796005706
2	213337968	213337968	T	G	SNP	ERBB4	ENST00000342788	human	ensembl	70_37	-1	known	intronic	c.82+65205	e1+65205	0.000	-	-	-	no_errors	ERBB4	HGNC	ENSG00000178568	tier3	965	0	0	1220	2	0.16366612111293	475	0	0
2	214177807	214177807	G	T	SNP	SPAG16	ENST00000331683	human	ensembl	70_37	+1	known	intronic	c.398+2906	e4+2906	0.004	-	-	-	no_errors	SPAG16	HGNC	ENSG00000144451	tier3	1294	1	0.0772200772200772	1601	23	1.41625615763547	497	118	19.1869918699187
2	215156625	215156625	T	C	SNP	SPAG16	ENST00000331683	human	ensembl	70_37	+1	known	intronic	c.1721-118239	e16-118239	0.019	-	-	-	no_errors	SPAG16	HGNC	ENSG00000144451	tier4	861	0	0	1098	1	0.0909918107370337	476	34	6.640625
2	216244843	216244843	C	G	SNP	FN1	ENST00000492816	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-216244843	NULL	0.996	-	-	-	no_coding_region	FN1	HGNC	ENSG00000115414	tier2	580	0	0	830	3	0.360144057623049	309	0	0
2	216394053	216394053	A	C	SNP	ENSG00000237525	ENST00000417485	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-16868	NULL	0.020	-	-	-	no_errors	AC012668.2	Clone_based_vega_gene	ENSG00000237525	tier4	476	0	0	671	2	0.297176820208024	259	4	1.52091254752852
2	217029428	217029428	T	G	SNP	XRCC5	ENST00000392132	human	ensembl	70_37	+1	known	intronic	c.1834+2657	e16+2657	0.001	-	-	-	no_errors	XRCC5	HGNC	ENSG00000079246	tier3	1450	0	0	2079	2	0.0961076405574243	568	0	0
2	217303724	217303724	T	G	SNP	SMARCAL1	ENST00000357276	human	ensembl	70_37	+1	known	intronic	c.1710+516	e8+516	0.001	-	-	-	no_errors	SMARCAL1	HGNC	ENSG00000138375	tier3	863	0	0	1311	2	0.152091254752852	373	0	0
2	217767632	217767632	G	A	SNP	ENSG00000236886	ENST00000447289	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.369	-	-	-	no_errors	AC007563.5	Clone_based_vega_gene	ENSG00000236886	tier4	1858	2	0.107411385606874	2336	3	0.128259940145361	646	38	5.50724637681159
2	219406055	219406055	T	G	SNP	USP37	ENST00000258399	human	ensembl	70_37	-1	known	intronic	c.680+4889	e5+4889	0.113	-	-	-	no_errors	USP37	HGNC	ENSG00000135913	tier4	1006	0	0	1626	5	0.306372549019608	492	0	0
2	220364903	220364903	T	G	SNP	GMPPA	ENST00000313597	human	ensembl	70_37	+1	known	missense	c.101	p.V34G	1.000	pfam_NTP_transferase	pfam_NTP_transferase	-	no_errors	GMPPA	HGNC	ENSG00000144591	tier1	495	0	0	738	3	0.404858299595142	293	0	0
2	221263667	221263667	A	T	SNP	ENSG00000239498	ENST00000432993	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.011	-	-	-	no_errors	AC114765.1	Clone_based_vega_gene	ENSG00000239498	tier4	624	0	0	750	2	0.265604249667995	394	0	0
2	222245573	222245573	C	G	SNP	EPHA4	ENST00000281821	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*45175	NULL	0.000	-	-	-	no_errors	EPHA4	HGNC	ENSG00000116106	tier3	672	0	0	906	2	0.220264317180617	316	3	0.9375
2	222701517	222701517	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	682	0	0	943	5	0.527426160337553	350	4	1.12359550561798
2	222814356	222814356	T	A	SNP	HSPA9P1	ENST00000432228	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12100	NULL	0.001	-	-	-	no_coding_region:pseudogene	HSPA9P1	HGNC	ENSG00000226666	tier3	953	0	0	593	486	45	406	115	22.0729366602687
2	222817694	222817694	G	T	SNP	HSPA9P1	ENST00000432228	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8762	NULL	0.036	-	-	-	no_coding_region:pseudogene	HSPA9P1	HGNC	ENSG00000226666	tier4	531	0	0	684	3	0.436681222707424	190	0	0
2	223182765	223182765	G	A	SNP	ENSG00000267034	ENST00000587099	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.001	-	-	-	no_errors	RP11-384O8.1	Clone_based_vega_gene	ENSG00000267034	tier1	1092	0	0	1438	2	0.138888888888889	532	0	0
2	223719975	223719975	G	C	SNP	ACSL3	ENST00000357430	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-53516	NULL	0.044	-	-	-	no_errors	ACSL3	HGNC	ENSG00000123983	tier4	810	0	0	1156	2	0.172711571675302	342	1	0.286532951289398
2	225398190	225398190	G	A	SNP	CUL3	ENST00000264414	human	ensembl	70_37	-1	known	intronic	c.378+2055	e3+2055	0.000	-	-	-	no_errors	CUL3	HGNC	ENSG00000036257	tier4	1379	0	0	2117	3	0.141509433962264	730	2	0.273224043715847
2	225934211	225934211	T	G	SNP	DOCK10	ENST00000258390	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27120	NULL	0.000	-	-	-	no_errors	DOCK10	HGNC	ENSG00000135905	tier4	1805	0	0	2710	2	0.0737463126843658	812	0	0
2	226840533	226840533	G	T	SNP	ENSG00000230621	ENST00000412635	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*17164	NULL	0.002	-	-	-	no_coding_region:pseudogene	AC080002.1	Clone_based_vega_gene	ENSG00000230621	tier4	453	0	0	603	2	0.330578512396694	216	0	0
2	228363907	228363907	T	G	SNP	AGFG1	ENST00000409979	human	ensembl	70_37	+1	known	intronic	c.261+7551	e2+7551	0.004	-	-	-	no_errors	AGFG1	HGNC	ENSG00000173744	tier4	1428	0	0	2126	3	0.140911225927666	784	0	0
2	229313478	229313478	G	T	SNP	ENSG00000232023	ENST00000432481	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*34499	NULL	0.001	-	-	-	no_errors	AC009410.1	Clone_based_vega_gene	ENSG00000232023	tier4	986	0	0	1247	3	0.24	485	0	0
2	230429858	230429858	T	G	SNP	DNER	ENST00000341772	human	ensembl	70_37	-1	known	intronic	c.848-18050	e5-18050	0.001	-	-	-	no_errors	DNER	HGNC	ENSG00000187957	tier3	1056	0	0	1435	2	0.139178844815588	406	1	0.245700245700246
2	233910442	233910442	A	T	SNP	INPP5D	ENST00000359570	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14747	NULL	0.000	-	-	-	no_errors	INPP5D	HGNC	ENSG00000168918	tier4	524	0	0	419	383	47.7556109725686	234	43	15.5234657039711
2	234225401	234225401	A	G	SNP	SAG	ENST00000409110	human	ensembl	70_37	+1	known	intronic	c.136+620	e2+620	0.001	-	-	-	no_errors	SAG	HGNC	ENSG00000130561	tier4	742	0	0	553	457	45.2027695351138	338	54	13.7755102040816
2	234922943	234922943	C	G	SNP	TRPM8	ENST00000324695	human	ensembl	70_37	+1	known	intronic	c.3265-263	e24-263	0.037	-	-	-	no_errors	TRPM8	HGNC	ENSG00000144481	tier3	1438	0	0	1236	542	30.4836895388077	633	0	0
2	235081278	235081278	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1437	0	0	1324	565	29.9100052938062	657	0	0
2	235141699	235141699	A	C	SNP	ENSG00000261298	ENST00000565664	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*9114	NULL	0.001	-	-	-	no_errors	RP11-309M7.1	Clone_based_vega_gene	ENSG00000261298	tier3	563	0	0	766	3	0.390117035110533	305	2	0.651465798045603
2	236651216	236651216	C	G	SNP	AGAP1	ENST00000304032	human	ensembl	70_37	+1	known	intronic	c.396+1524	e4+1524	0.004	-	-	-	no_errors	AGAP1	HGNC	ENSG00000157985	tier3	1002	0	0	1339	2	0.149142431021626	419	2	0.475059382422803
2	236753763	236753763	C	T	SNP	AGAP1	ENST00000304032	human	ensembl	70_37	+1	known	intronic	c.1050+37788	e9+37788	0.000	-	-	-	no_errors	AGAP1	HGNC	ENSG00000157985	tier3	762	0	0	485	427	46.8201754385965	305	74	19.5250659630607
2	239437113	239437113	G	A	SNP	LOC151171	ENST00000446979	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	AC092619.1	Clone_based_vega_gene	ENSG00000225493	tier4	1692	1	0.0590318772136954	1221	1175	49.0400667779633	485	107	18.0743243243243
2	239639442	239639442	C	T	SNP	ENSG00000234279	ENST00000448543	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC113618.1	Clone_based_vega_gene	ENSG00000234279	tier3	1064	1	0.0938967136150235	833	567	40.4710920770878	470	90	16.0714285714286
2	241407223	241407223	A	C	SNP	GPC1	ENST00000264039	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*1516	NULL	0.000	-	-	-	no_errors	GPC1	HGNC	ENSG00000063660	tier3	382	0	0	480	2	0.4149377593361	191	1	0.520833333333333
2	242588212	242588212	A	G	SNP	ATG4B	ENST00000404914	human	ensembl	70_37	+1	known	intronic	c.11-2213	e2-2213	0.000	-	-	-	no_errors	ATG4B	HGNC	ENSG00000168397	tier3	777	0	0	601	543	47.465034965035	282	64	18.4971098265896
3	304571	304571	C	T	SNP	CHL1	ENST00000256509	human	ensembl	70_37	+1	known	intronic	c.1+18196	e0+18196	0.000	-	-	-	no_errors	CHL1	HGNC	ENSG00000134121	tier3	1088	0	0	766	581	43.1328878990349	417	69	14.1975308641975
3	704896	704896	C	T	SNP	ENSG00000224957	ENST00000420823	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	AC090044.1	Clone_based_vega_gene	ENSG00000224957	tier4	755	2	0.264200792602378	576	562	49.3848857644991	321	92	22.2760290556901
3	1077595	1077595	C	T	SNP	ENSG00000235158	ENST00000451707	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*22977	NULL	0.001	-	-	-	no_errors	AC087430.1	Clone_based_vega_gene	ENSG00000235158	tier3	1199	1	0.0832639467110741	894	729	44.916820702403	513	101	16.4495114006515
3	2346187	2346187	C	A	SNP	CNTN4	ENST00000397461	human	ensembl	70_37	+1	known	intronic	c.1-34675	e1-34675	0.000	-	-	-	no_errors	CNTN4	HGNC	ENSG00000144619	tier3	1498	1	0.066711140760507	1741	2	0.114678899082569	587	30	4.84652665589661
3	2525944	2525944	G	A	SNP	CNTN4	ENST00000397461	human	ensembl	70_37	+1	known	intronic	c.1-87156	e1-87156	0.674	-	-	-	no_errors	CNTN4	HGNC	ENSG00000144619	tier4	620	0	0	438	395	47.4189675870348	233	46	16.3701067615658
3	2886820	2886820	C	A	SNP	CNTN4	ENST00000397461	human	ensembl	70_37	+1	known	intronic	c.455-21616	e5-21616	0.000	-	-	-	no_errors	CNTN4	HGNC	ENSG00000144619	tier4	466	0	0	660	3	0.452488687782805	198	3	1.49253731343284
3	3079678	3079678	T	C	SNP	CNTN4	ENST00000397461	human	ensembl	70_37	+1	known	intronic	c.2092+666	e15+666	0.000	-	-	-	no_errors	CNTN4	HGNC	ENSG00000144619	tier3	596	0	0	858	1	0.116414435389988	293	3	1.01351351351351
3	3679122	3679122	T	G	SNP	ENSG00000223727	ENST00000420000	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10142	NULL	0.009	-	-	-	no_errors	AC026188.1	Clone_based_vega_gene	ENSG00000223727	tier3	1030	1	0.0968992248062015	1361	4	0.292825768667643	492	9	1.79640718562874
3	3780815	3780815	G	A	SNP	SUMF1	ENST00000470751	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	SUMF1	HGNC	ENSG00000144455	tier4	2719	4	0.146842878120411	3688	4	0.108283703302653	897	51	5.35714285714286
3	5343780	5343780	C	G	SNP	ENSG00000230944	ENST00000443087	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45334	NULL	0.000	-	-	-	no_errors	AC026202.5	Clone_based_vega_gene	ENSG00000230944	tier2	669	0	0	995	4	0.4004004004004	369	1	0.268096514745308
3	5410147	5410147	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1300	0	0	1923	2	0.103788271925272	584	1	0.170940170940171
3	5417149	5417149	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	728	0	0	1003	2	0.198609731876862	353	4	1.1142061281337
3	6123820	6123820	T	C	SNP	ENSG00000229642	ENST00000425894	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	AC027119.1	Clone_based_vega_gene	ENSG00000229642	tier3	726	0	0	961	2	0.207684319833853	356	0	0
3	6758083	6758083	T	C	SNP	GRM7-AS3	ENST00000412629	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	GRM7-AS3	HGNC	ENSG00000226258	tier4	1683	0	0	2192	2	0.0911161731207289	715	4	0.556328233657858
3	8067158	8067158	C	T	SNP	LMCD1-AS1	ENST00000446281	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	LMCD1-AS1	HGNC	ENSG00000227110	tier4	1019	0	0	1252	5	0.39714058776807	464	3	0.639658848614072
3	8462049	8462049	T	G	SNP	LMCD1-AS1	ENST00000420095	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.034	-	-	-	no_errors	LMCD1-AS1	HGNC	ENSG00000227110	tier3	1046	0	0	748	637	45.9927797833935	413	115	21.780303030303
3	8508278	8508278	T	C	SNP	LMCD1-AS1	ENST00000420095	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	LMCD1-AS1	HGNC	ENSG00000227110	tier3	1060	0	0	1419	3	0.210970464135021	479	0	0
3	9708548	9708548	C	T	SNP	MTMR14	ENST00000296003	human	ensembl	70_37	+1	known	intronic	c.418-1855	e4-1855	0.001	-	-	-	no_errors	MTMR14	HGNC	ENSG00000163719	tier3	722	0	0	595	500	45.662100456621	357	89	19.9551569506726
3	9726788	9726788	A	C	SNP	MTMR14	ENST00000296003	human	ensembl	70_37	+1	known	intronic	c.1128-107	e13-107	0.004	-	-	-	no_errors	MTMR14	HGNC	ENSG00000163719	tier3	448	0	0	687	4	0.578871201157742	226	6	2.56410256410256
3	11325931	11325931	G	T	SNP	ATG7	ENST00000354449	human	ensembl	70_37	+1	known	intronic	c.1+11815	e0+11815	0.002	-	-	-	no_errors	ATG7	HGNC	ENSG00000197548	tier3	911	0	0	1477	2	0.135226504394861	468	1	0.213219616204691
3	12037105	12037105	T	C	SNP	SYN2	ENST00000540660	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8921	NULL	0.000	-	-	-	no_errors	SYN2	HGNC	ENSG00000157152	tier4	926	0	0	1269	3	0.2356637863315	448	4	0.881057268722467
3	12113572	12113572	T	A	SNP	SYN2	ENST00000540660	human	ensembl	70_37	+1	known	intronic	c.173+67144	e2+67144	0.822	-	-	-	no_errors	SYN2	HGNC	ENSG00000157152	tier3	2576	0	0	3758	2	0.0531773464504121	932	2	0.213675213675214
3	12155214	12155214	G	A	SNP	SYN2	ENST00000540660	human	ensembl	70_37	+1	known	intronic	c.174-26937	e3-26937	0.010	-	-	-	no_errors	SYN2	HGNC	ENSG00000157152	tier4	1127	0	0	938	597	38.8671875	511	107	17.2859450726979
3	12297744	12297744	G	A	SNP	PPARG	ENST00000309576	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-123461	NULL	0.006	-	-	-	no_errors	PPARG	HGNC	ENSG00000132170	tier4	70	0	0	101	2	1.94174757281553	31	0	0
3	12312903	12312903	T	G	SNP	PPARG	ENST00000309576	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-108302	NULL	0.001	-	-	-	no_errors	PPARG	HGNC	ENSG00000132170	tier3	432	0	0	537	3	0.555555555555556	162	1	0.613496932515337
3	13683798	13683798	G	C	SNP	LINC00620	ENST00000419618	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8423	NULL	0.001	-	-	-	no_errors	LINC00620	HGNC	ENSG00000224514	tier4	290	0	0	347	2	0.573065902578797	149	0	0
3	15424486	15424486	A	G	SNP	METTL6	ENST00000443029	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*28277	NULL	0.251	-	-	-	no_errors	METTL6	HGNC	ENSG00000206562	tier4	977	0	0	1559	3	0.191815856777494	505	0	0
3	15425909	15425909	G	A	SNP	METTL6	ENST00000443029	human	ensembl	70_37	-1	known	intronic	c.855-215	e6-215	0.037	-	-	-	no_errors	METTL6	HGNC	ENSG00000206562	tier4	1051	0	0	1663	2	0.120048019207683	567	0	0
3	16300871	16300871	T	G	SNP	DPH3	ENST00000488423	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*1400	NULL	0.000	-	-	-	no_errors	DPH3	HGNC	ENSG00000154813	tier3	629	0	0	857	2	0.232828870779977	359	0	0
3	17597355	17597355	C	A	SNP	TBC1D5	ENST00000253692	human	ensembl	70_37	-1	known	intronic	c.1-47258	e1-47258	0.073	-	-	-	no_errors	TBC1D5	HGNC	ENSG00000131374	tier4	448	0	0	573	1	0.173913043478261	218	4	1.8018018018018
3	18231775	18231775	T	G	SNP	TBC1D5	ENST00000414318	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	1.000	-	-	-	overly_large_intron	TBC1D5	HGNC	ENSG00000131374	tier3	1013	0	0	1370	3	0.21849963583394	543	0	0
3	19628846	19628846	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	994	0	0	692	838	54.7712418300654	377	129	25.3937007874016
3	19938978	19938978	T	C	SNP	EFHB	ENST00000295824	human	ensembl	70_37	-1	known	intronic	c.1571-645	e9-645	0.000	-	-	-	no_errors	EFHB	HGNC	ENSG00000163576	tier3	308	0	0	431	2	0.46189376443418	123	0	0
3	20076276	20076276	A	C	SNP	KAT2B	ENST00000263754	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5694	NULL	0.001	-	-	-	no_errors	KAT2B	HGNC	ENSG00000114166	tier4	625	0	0	1017	3	0.294117647058824	327	0	0
3	21335704	21335704	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1448	0	0	1854	25	1.32978723404255	458	102	18.2142857142857
3	22984923	22984923	T	A	SNP	SALL4P5	ENST00000419001	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46391	NULL	0.041	-	-	-	no_coding_region:pseudogene	SALL4P5	HGNC	ENSG00000231915	tier4	296	0	0	406	3	0.733496332518337	87	0	0
3	23877224	23877224	T	C	SNP	UBE2E1	ENST00000306627	human	ensembl	70_37	+1	known	intronic	c.203+24223	e2+24223	0.000	-	-	-	no_errors	UBE2E1	HGNC	ENSG00000170142	tier3	1786	0	0	2938	2	0.0680272108843537	832	0	0
3	24327251	24327251	T	C	SNP	THRB	ENST00000356447	human	ensembl	70_37	-1	known	intronic	c.1+51540	e0+51540	0.000	-	-	-	no_errors	THRB	HGNC	ENSG00000151090	tier3	1047	0	0	1213	1	0.0823723228995058	473	8	1.66320166320166
3	25909187	25909187	C	T	SNP	ENSG00000230891	ENST00000496997	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.037	-	-	-	no_errors	AC103588.1	Clone_based_vega_gene	ENSG00000230891	tier3	974	0	0	1312	35	2.59836674090572	453	4	0.87527352297593
3	26119407	26119407	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2059	1	0.0485436893203883	2810	4	0.141995030173944	735	114	13.4275618374558
3	26333792	26333792	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1295	0	0	1646	2	0.121359223300971	525	3	0.568181818181818
3	26883381	26883381	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1598	1	0.0624219725343321	1978	1	0.0505050505050505	377	39	9.33014354066986
3	27127263	27127263	G	A	SNP	NEK10	ENST00000383771	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*25500	NULL	0.000	-	-	-	no_errors	NEK10	HGNC	ENSG00000163491	tier3	961	2	0.20746887966805	606	489	44.6167883211679	450	94	17.1532846715328
3	27911622	27911622	G	T	SNP	ENSG00000225548	ENST00000414382	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	AC098973.2	Clone_based_vega_gene	ENSG00000225548	tier3	1094	0	0	1458	5	0.341763499658236	423	3	0.704225352112676
3	28236357	28236357	G	A	SNP	CMC1	ENST00000466830	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46928	NULL	0.001	-	-	-	no_errors	CMC1	HGNC	ENSG00000187118	tier4	1323	0	0	960	706	42.3769507803121	479	89	15.669014084507
3	29566305	29566305	A	G	SNP	RBMS3	ENST00000383767	human	ensembl	70_37	+1	known	intronic	c.307+36315	e3+36315	0.047	-	-	-	no_errors	RBMS3	HGNC	ENSG00000144642	tier4	2130	0	0	2850	3	0.105115627189909	787	0	0
3	29636150	29636150	T	G	SNP	RBMS3	ENST00000383767	human	ensembl	70_37	+1	known	intronic	c.399+7454	e4+7454	0.000	-	-	-	no_errors	RBMS3	HGNC	ENSG00000144642	tier3	791	0	0	1156	5	0.429922613929493	357	3	0.833333333333333
3	31777615	31777615	A	G	SNP	OSBPL10	ENST00000396556	human	ensembl	70_37	-1	known	intronic	c.941-2712	e6-2712	0.000	-	-	-	no_errors	OSBPL10	HGNC	ENSG00000144645	tier4	1371	0	0	2076	2	0.0962463907603465	600	1	0.166389351081531
3	32029103	32029103	T	G	SNP	ZNF860	ENST00000360311	human	ensembl	70_37	+1	known	intronic	c.1-1049	e1-1049	0.017	-	-	-	no_errors	ZNF860	HGNC	ENSG00000197385	tier4	481	0	0	328	288	46.677471636953	229	50	17.921146953405
3	32422231	32422231	T	G	SNP	CMTM7	ENST00000334983	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11168	NULL	0.015	-	-	-	no_errors	CMTM7	HGNC	ENSG00000153551	tier4	1011	0	0	1457	2	0.137080191912269	549	0	0
3	32468588	32468588	A	C	SNP	CMTM7	ENST00000334983	human	ensembl	70_37	+1	known	intronic	c.160-14744	e2-14744	0.001	-	-	-	no_errors	CMTM7	HGNC	ENSG00000153551	tier4	661	0	0	1136	2	0.175746924428822	331	2	0.600600600600601
3	33190090	33190090	C	T	SNP	SUSD5	ENST00000309558	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*4144	NULL	0.000	-	-	-	no_errors	SUSD5	HGNC	ENSG00000173705	tier4	1012	0	0	1352	215	13.7117346938776	613	0	0
3	33202986	33202986	C	A	SNP	SUSD5	ENST00000309558	human	ensembl	70_37	-1	known	intronic	c.599-7461	e5-7461	0.002	-	-	-	no_errors	SUSD5	HGNC	ENSG00000173705	tier4	1361	0	0	1915	2	0.104329681794471	571	0	0
3	33396173	33396173	C	T	SNP	FBXL2	ENST00000484457	human	ensembl	70_37	+1	known	intronic	c.66-4286	e3-4286	0.504	-	-	-	no_errors	FBXL2	HGNC	ENSG00000153558	tier4	1235	0	0	1918	2	0.104166666666667	635	0	0
3	35889008	35889008	A	C	SNP	ENSG00000226489	ENST00000454621	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24350	NULL	0.031	-	-	-	no_coding_region:pseudogene	AC104308.2	Clone_based_vega_gene	ENSG00000226489	tier4	1635	0	0	2266	4	0.176211453744493	527	0	0
3	37817825	37817825	T	A	SNP	ITGA9	ENST00000264741	human	ensembl	70_37	+1	known	intronic	c.2542-1058	e24-1058	0.028	-	-	-	no_errors	ITGA9	HGNC	ENSG00000144668	tier4	1868	0	0	2750	2	0.0726480203414457	646	4	0.613496932515337
3	38500402	38500402	T	G	SNP	ACVR2B	ENST00000352511	human	ensembl	70_37	+1	known	intronic	c.52+4537	e1+4537	0.000	-	-	-	no_errors	ACVR2B	HGNC	ENSG00000114739	tier4	815	0	0	1262	1	0.0791765637371338	317	5	1.5527950310559
3	40274402	40274402	C	T	SNP	MYRIP	ENST00000302541	human	ensembl	70_37	+1	known	intronic	c.1906-948	e11-948	0.000	-	-	-	no_errors	MYRIP	HGNC	ENSG00000170011	tier4	854	1	0.116686114352392	559	433	43.6491935483871	379	80	17.4291938997821
3	43028951	43028951	T	G	SNP	FAM198A	ENST00000273146	human	ensembl	70_37	+1	known	intronic	c.3+7814	e1+7814	0.000	-	-	-	no_errors	FAM198A	HGNC	ENSG00000144649	tier4	230	0	0	319	3	0.928792569659443	196	2	1.01010101010101
3	43160958	43160958	G	A	SNP	GTDC2	ENST00000344697	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38035	NULL	0.001	-	-	-	no_errors	GTDC2	HGNC	ENSG00000144647	tier3	1548	0	0	2052	1	0.0486854917234664	724	40	5.23560209424084
3	44186331	44186331	A	C	SNP	MIR138-1	ENST00000385219	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*30529	NULL	0.000	-	-	-	no_errors	MIR138-1	HGNC	ENSG00000207954	tier4	484	0	0	671	3	0.445103857566766	243	1	0.409836065573771
3	44528888	44528888	T	C	SNP	ZNF445	ENST00000396077	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31847	NULL	0.020	-	-	-	no_errors	ZNF445	HGNC	ENSG00000185219	tier4	447	0	0	751	2	0.26525198938992	261	0	0
3	45201264	45201264	C	T	SNP	CDCP1	ENST00000296129	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-13485	NULL	0.863	-	-	-	no_errors	CDCP1	HGNC	ENSG00000163814	tier3	700	0	0	523	444	45.9152016546019	320	65	16.8831168831169
3	45633448	45633448	A	C	SNP	LIMD1	ENST00000465039	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	LIMD1	HGNC	ENSG00000144791	tier3	878	0	0	1372	2	0.145454545454545	506	0	0
3	46502706	46502706	A	C	SNP	LTF	ENST00000231751	human	ensembl	70_37	-1	known	intronic	c.44-1397	e2-1397	0.000	-	-	-	no_errors	LTF	HGNC	ENSG00000012223	tier4	731	0	0	1083	7	0.642201834862385	315	3	0.943396226415094
3	50808218	50808218	T	G	SNP	DOCK3	ENST00000266037	human	ensembl	70_37	+1	known	intronic	c.38-7888	e2-7888	0.219	-	-	-	no_errors	DOCK3	HGNC	ENSG00000088538	tier4	471	0	0	749	2	0.266311584553928	252	1	0.393700787401575
3	51692689	51692689	T	C	SNP	RAD54L2	ENST00000409535	human	ensembl	70_37	+1	known	intronic	c.3316+1004	e19+1004	0.001	-	-	-	no_errors	RAD54L2	HGNC	ENSG00000164080	tier3	1356	0	0	1106	840	43.1654676258993	500	123	19.7431781701445
3	51954538	51954538	G	A	SNP	PARP3	ENST00000398755	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22168	NULL	0.037	-	-	-	no_errors	PARP3	HGNC	ENSG00000041880	tier4	119	0	0	186	2	1.06382978723404	15	0	0
3	52275288	52275288	C	A	SNP	TLR9	ENST00000597542	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11537	NULL	0.698	-	-	-	no_errors	TLR9	HGNC	ENSG00000239732	tier3	1156	0	0	930	855	47.8991596638655	490	68	12.1863799283154
3	53548819	53548819	T	C	SNP	CACNA1D	ENST00000288139	human	ensembl	70_37	+1	known	intronic	c.483+13072	e3+13072	0.005	-	-	-	no_errors	CACNA1D	HGNC	ENSG00000157388	tier3	915	0	0	1329	3	0.225056264066016	389	0	0
3	53992090	53992090	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	596	0	0	874	3	0.341685649202733	252	0	0
3	54934111	54934111	G	A	SNP	CACNA2D3	ENST00000288197	human	ensembl	70_37	+1	known	intronic	c.2449+216	e27+216	0.000	-	-	-	no_errors	CACNA2D3	HGNC	ENSG00000157445	tier3	1382	0	0	977	812	45.3884851872555	593	124	17.2701949860724
3	54957975	54957975	C	T	SNP	CACNA2D3	ENST00000288197	human	ensembl	70_37	+1	known	intronic	c.2449+24080	e27+24080	0.000	-	-	-	no_errors	CACNA2D3	HGNC	ENSG00000157445	tier4	684	0	0	507	475	48.3706720977597	319	59	15.6084656084656
3	54985325	54985325	C	A	SNP	CACNA2D3	ENST00000288197	human	ensembl	70_37	+1	known	intronic	c.2450-17152	e28-17152	0.000	-	-	-	no_errors	CACNA2D3	HGNC	ENSG00000157445	tier3	596	0	0	757	2	0.263504611330698	295	1	0.337837837837838
3	55054701	55054701	A	C	SNP	CACNA2D3	ENST00000288197	human	ensembl	70_37	+1	known	intronic	c.2987+2357	e35+2357	0.026	-	-	-	no_errors	CACNA2D3	HGNC	ENSG00000157445	tier4	357	0	0	496	2	0.401606425702811	88	0	0
3	55550382	55550382	T	G	SNP	ERC2	ENST00000288221	human	ensembl	70_37	-1	known	intronic	c.2874-5078	e17-5078	1.000	-	-	-	no_errors	ERC2	HGNC	ENSG00000187672	tier2	1218	0	0	1398	2	0.14265335235378	619	0	0
3	55638001	55638001	A	C	SNP	ERC2	ENST00000288221	human	ensembl	70_37	-1	known	intronic	c.2874+79821	e16+79821	0.001	-	-	-	no_errors	ERC2	HGNC	ENSG00000187672	tier3	539	0	0	684	2	0.291120815138282	292	0	0
3	58690351	58690351	T	C	SNP	FAM3D	ENST00000358781	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49061	NULL	0.077	-	-	-	no_errors	FAM3D	HGNC	ENSG00000198643	tier4	115	0	0	146	2	1.35135135135135	61	0	0
3	59349707	59349707	C	T	SNP	ENSG00000243903	ENST00000497258	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*16043	NULL	0.060	-	-	-	no_errors	RP11-285B24.1	Clone_based_vega_gene	ENSG00000243903	tier4	1673	0	0	1950	282	12.6344086021505	784	2	0.254452926208651
3	59986565	59986565	G	C	SNP	FHIT	ENST00000341848	human	ensembl	70_37	-1	known	intronic	c.279+10532	e3+10532	0.000	-	-	-	no_errors	FHIT	HGNC	ENSG00000189283	tier4	435	0	0	538	2	0.37037037037037	256	0	0
3	61628333	61628333	C	T	SNP	PTPRG	ENST00000474889	human	ensembl	70_37	+1	known	intronic	c.85+80287	e1+80287	0.000	-	-	-	no_errors	PTPRG	HGNC	ENSG00000144724	tier3	1241	0	0	1201	519	30.1744186046512	600	0	0
3	62016716	62016716	A	G	SNP	PTPRG	ENST00000474889	human	ensembl	70_37	+1	known	intronic	c.519+27545	e4+27545	0.002	-	-	-	no_errors	PTPRG	HGNC	ENSG00000144724	tier3	1496	0	0	2171	2	0.092038656235619	609	2	0.325732899022801
3	62323989	62323989	A	G	SNP	LOC100506994	ENST00000490916	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-204J18.3	Clone_based_vega_gene	ENSG00000241472	tier4	2009	0	0	2808	2	0.0711743772241993	606	0	0
3	62864831	62864831	T	A	SNP	CADPS	ENST00000383710	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4127	NULL	0.961	-	-	-	no_errors	CADPS	HGNC	ENSG00000163618	tier3	613	0	0	778	3	0.384122919334187	278	0	0
3	64060458	64060458	G	A	SNP	PRICKLE2-AS1	ENST00000482609	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-129B22.1	Clone_based_vega_gene	ENSG00000241111	tier4	1496	1	0.066711140760507	1975	55	2.70536153467782	721	0	0
3	64316960	64316960	A	G	SNP	PRICKLE2	ENST00000564377	human	ensembl	70_37	-1	novel	intronic	c.128+113199	e2+113199	0.002	-	-	-	no_errors	PRICKLE2	HGNC	ENSG00000163637	tier4	1202	0	0	1653	12	0.720720720720721	546	6	1.08695652173913
3	64749384	64749384	A	G	SNP	ADAMTS9-AS2	ENST00000474768	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	ADAMTS9-AS2	HGNC	ENSG00000241684	tier3	423	0	0	476	3	0.625	190	0	0
3	65322438	65322438	C	G	SNP	MAGI1	ENST00000402939	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*19615	NULL	0.005	-	-	-	no_errors	MAGI1	HGNC	ENSG00000151276	tier4	648	0	0	553	224	28.8288288288288	358	0	0
3	66732975	66732975	T	G	SNP	RPL21P41	ENST00000459863	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*45139	NULL	0.061	-	-	-	no_coding_region:pseudogene	RPL21P41	HGNC	ENSG00000214560	tier4	1306	0	0	1815	2	0.110071546505228	592	0	0
3	66878982	66878982	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	641	0	0	985	4	0.404448938321537	306	2	0.649350649350649
3	67384303	67384303	A	G	SNP	SUCLG2	ENST00000307227	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*41865	NULL	0.000	-	-	-	no_errors	SUCLG2	HGNC	ENSG00000172340	tier4	1820	0	0	2505	6	0.238853503184713	787	0	0
3	67390326	67390326	C	A	SNP	SUCLG2	ENST00000307227	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*35842	NULL	0.132	-	-	-	no_errors	SUCLG2	HGNC	ENSG00000172340	tier4	1077	0	0	711	589	45.2728670253651	384	70	15.4185022026432
3	67510272	67510272	G	A	SNP	SUCLG2	ENST00000307227	human	ensembl	70_37	-1	known	intronic	c.1062+35950	e9+35950	0.000	-	-	-	no_errors	SUCLG2	HGNC	ENSG00000172340	tier4	974	0	0	650	477	42.3247559893523	409	89	17.8714859437751
3	67557953	67557953	T	A	SNP	SUCLG2	ENST00000307227	human	ensembl	70_37	-1	known	intronic	c.757+1278	e7+1278	0.001	-	-	-	no_errors	SUCLG2	HGNC	ENSG00000172340	tier4	311	0	0	446	2	0.446428571428571	213	0	0
3	67945343	67945343	C	T	SNP	ENSG00000241316	ENST00000482677	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.043	-	-	-	no_errors	RP11-81N13.1	Clone_based_vega_gene	ENSG00000241316	tier4	1260	0	0	838	743	46.9955724225174	348	101	22.3946784922395
3	70990785	70990785	T	C	SNP	FOXP1	ENST00000318789	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*17613	NULL	0.000	-	-	-	no_errors	FOXP1	HGNC	ENSG00000114861	tier3	744	0	0	1020	3	0.293255131964809	288	1	0.346020761245675
3	71026793	71026793	C	G	SNP	FOXP1	ENST00000318789	human	ensembl	70_37	-1	known	splice_site	c.1428+1	e11+1	1.000	-	-	-	no_errors	FOXP1	HGNC	ENSG00000114861	tier1	1183	0	0	1331	153	10.3099730458221	506	0	0
3	71026793	71026793	C	G	SNP	FOXP1	ENST00000318789	human	ensembl	70_37	-1	known	splice_site	c.1428+1	e11+1	1.000	-	-	-	no_errors	FOXP1	HGNC	ENSG00000114861	tier1	1579	0	0	1564	185	10.5774728416238	879	0	0
3	71896457	71896457	G	T	SNP	ENSG00000239250	ENST00000487601	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*19843	NULL	0.001	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000239250	tier4	772	0	0	1134	7	0.613496932515337	444	2	0.440528634361234
3	72652800	72652800	A	G	SNP	ENSG00000199469	ENST00000362599	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*26795	NULL	0.055	-	-	-	no_errors	U1	RFAM	ENSG00000199469	tier4	668	0	0	945	2	0.211193241816262	401	1	0.248756218905473
3	74359750	74359750	A	G	SNP	CNTN3	ENST00000263665	human	ensembl	70_37	-1	known	intronic	c.1669-7792	e13-7792	0.000	-	-	-	no_errors	CNTN3	HGNC	ENSG00000113805	tier4	1490	0	0	2009	2	0.099403578528827	610	1	0.163132137030995
3	75747287	75747287	C	T	SNP	MIR4273	ENST00000582824	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40144	NULL	0.313	-	-	-	no_errors	MIR4273	HGNC	ENSG00000266396	tier4	148	0	0	193	4	2.03045685279188	78	0	0
3	75958457	75958457	G	A	SNP	ROBO2	ENST00000487694	human	ensembl	70_37	+1	known	intronic	c.1+2346	e0+2346	0.000	-	-	-	overly_large_intron	ROBO2	HGNC	ENSG00000185008	tier3	2417	0	0	1626	1267	43.7802349689012	733	152	17.1751412429379
3	76191821	76191821	T	G	SNP	ROBO2	ENST00000487694	human	ensembl	70_37	+1	known	intronic	c.109+205068	e1+205068	0.189	-	-	-	overly_large_intron	ROBO2	HGNC	ENSG00000185008	tier4	1653	0	0	2238	5	0.22271714922049	574	0	0
3	76208847	76208847	C	A	SNP	ROBO2	ENST00000487694	human	ensembl	70_37	+1	known	intronic	c.109+222094	e1+222094	0.026	-	-	-	overly_large_intron	ROBO2	HGNC	ENSG00000185008	tier4	1416	0	0	1813	34	1.83982683982684	463	122	20.8547008547009
3	79241770	79241770	T	G	SNP	ROBO1	ENST00000464233	human	ensembl	70_37	-1	known	intronic	c.89-67081	e2-67081	0.000	-	-	-	no_errors	ROBO1	HGNC	ENSG00000169855	tier4	1189	0	0	1661	2	0.120192307692308	483	0	0
3	80018026	80018026	T	C	SNP	HMGB1P38	ENST00000490557	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10734	NULL	0.100	-	-	-	no_coding_region:pseudogene	HMGB1P38	HGNC	ENSG00000243877	tier4	1799	3	0.166389351081531	2420	49	1.98460915350344	604	171	22.0645161290323
3	80159674	80159674	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1288	0	0	846	638	42.9919137466307	434	70	13.8888888888889
3	80285411	80285411	T	C	SNP	ENSG00000239699	ENST00000474219	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*19027	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-450I19.2	Clone_based_vega_gene	ENSG00000239699	tier3	941	0	0	673	550	44.9346405228758	458	95	17.1790235081374
3	81496750	81496750	T	C	SNP	GBE1	ENST00000429644	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*42808	NULL	0.012	-	-	-	no_errors	GBE1	HGNC	ENSG00000114480	tier3	744	0	0	1073	8	0.740055504162812	350	5	1.40845070422535
3	81934737	81934737	A	C	SNP	ENSG00000242009	ENST00000471614	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-359D24.1	Clone_based_vega_gene	ENSG00000242009	tier4	1214	0	0	1673	2	0.119402985074627	538	0	0
3	82041589	82041589	A	G	SNP	ENSG00000239440	ENST00000470263	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-260O18.1	Clone_based_vega_gene	ENSG00000239440	tier4	2023	1	0.0494071146245059	1359	960	41.3971539456662	625	136	17.8712220762155
3	82300867	82300867	G	T	SNP	ENSG00000239440	ENST00000470263	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-260O18.1	Clone_based_vega_gene	ENSG00000239440	tier4	705	0	0	889	5	0.558659217877095	361	2	0.550964187327824
3	82730143	82730143	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1331	0	0	909	756	45.4054054054054	507	102	16.7487684729064
3	84418840	84418840	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1033	0	0	1358	2	0.147058823529412	496	6	1.19047619047619
3	84593289	84593289	A	T	SNP	ENSG00000266652	ENST00000578770	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*47475	NULL	0.231	-	-	-	no_errors	AC107025.1	Clone_based_ensembl_gene	ENSG00000266652	tier4	2218	0	0	3125	4	0.12779552715655	677	2	0.294550810014728
3	84912027	84912027	C	T	SNP	LOC440970	ENST00000482721	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-735B13.1	Clone_based_vega_gene	ENSG00000242641	tier3	1751	0	0	2032	259	11.3051069402008	730	0	0
3	84991276	84991276	A	C	SNP	CADM2	ENST00000407528	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17483	NULL	0.002	-	-	-	no_errors	CADM2	HGNC	ENSG00000175161	tier3	1097	0	0	1531	3	0.195439739413681	497	0	0
3	85481404	85481404	C	T	SNP	CADM2	ENST00000407528	human	ensembl	70_37	+1	known	intronic	c.62-369793	e2-369793	0.000	-	-	-	no_errors	CADM2	HGNC	ENSG00000175161	tier3	582	0	0	531	233	30.4973821989529	294	4	1.34228187919463
3	85586900	85586900	C	G	SNP	CADM2	ENST00000407528	human	ensembl	70_37	+1	known	intronic	c.62-264297	e2-264297	0.022	-	-	-	no_errors	CADM2	HGNC	ENSG00000175161	tier3	1657	0	0	2282	5	0.218531468531469	611	4	0.648298217179903
3	85588165	85588165	A	T	SNP	CADM2	ENST00000407528	human	ensembl	70_37	+1	known	intronic	c.62-263032	e2-263032	0.000	-	-	-	no_errors	CADM2	HGNC	ENSG00000175161	tier3	1379	0	0	1776	9	0.503919372900336	634	0	0
3	86321418	86321418	A	G	SNP	ENSG00000239767	ENST00000479244	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4907	NULL	0.001	-	-	-	no_errors	RP11-789F5.1	Clone_based_vega_gene	ENSG00000239767	tier3	1616	1	0.0618429189857761	1976	248	11.1510791366906	710	0	0
3	86403168	86403168	T	G	SNP	ENSG00000222934	ENST00000411002	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-8114	NULL	0.075	-	-	-	no_errors	7SK	RFAM	ENSG00000222934	tier4	1313	0	0	1736	4	0.229753015508329	548	0	0
3	86539009	86539009	T	C	SNP	ENSG00000241328	ENST00000460586	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-331K15.1	Clone_based_vega_gene	ENSG00000241328	tier3	1509	0	0	1082	707	39.5192845164897	557	116	17.2362555720654
3	87224936	87224936	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	710	0	0	900	2	0.221729490022173	265	1	0.37593984962406
3	89090393	89090393	T	C	SNP	GAPDHP50	ENST00000464421	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*6199	NULL	0.015	-	-	-	no_coding_region:pseudogene	GAPDHP50	HGNC	ENSG00000241861	tier4	1472	0	0	1108	869	43.955488113303	584	109	15.7287157287157
3	90256185	90256185	A	G	SNP	PROSP	ENST00000474651	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_coding_region:pseudogene	PROSP	HGNC	ENSG00000189002	tier2	1814	0	0	1120	1134	50.2659574468085	526	113	17.6838810641628
3	90463270	90463270	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	404	0	0	502	2	0.396825396825397	169	0	0
3	93656753	93656753	A	T	SNP	PROS1	ENST00000394236	human	ensembl	70_37	-1	known	intronic	c.77-10502	e2-10502	0.006	-	-	-	no_errors	PROS1	HGNC	ENSG00000184500	tier3	1072	0	0	1425	118	7.64744005184705	574	0	0
3	93952771	93952771	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2750	0	0	3893	2	0.0512820512820513	488	1	0.204498977505112
3	94974372	94974372	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1144	0	0	1496	2	0.133511348464619	460	0	0
3	95235500	95235500	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1122	0	0	1354	4	0.294550810014728	489	0	0
3	95472778	95472778	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	466	0	0	540	2	0.3690036900369	229	0	0
3	95707272	95707272	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1078	0	0	765	624	44.9244060475162	355	115	24.468085106383
3	95909112	95909112	G	A	SNP	ENSG00000221477	ENST00000408550	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-23366	NULL	0.004	-	-	-	no_errors	AC108739.1	Clone_based_ensembl_gene	ENSG00000221477	tier4	1021	2	0.1953125	707	557	43.9968404423381	391	82	17.047817047817
3	95940870	95940870	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1439	0	0	1294	585	31.1004784688995	678	1	0.147275405007364
3	96075856	96075856	A	G	SNP	HNRNPKP4	ENST00000485383	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*6073	NULL	0.292	-	-	-	no_coding_region:pseudogene	HNRNPKP4	HGNC	ENSG00000243547	tier4	1107	0	0	738	588	44.2771084337349	495	119	19.349593495935
3	96306299	96306299	A	C	SNP	RPL18AP8	ENST00000486071	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31849	NULL	0.000	-	-	-	no_coding_region:pseudogene	RPL18AP8	HGNC	ENSG00000218754	tier3	856	0	0	1205	2	0.165700082850041	380	4	1.04166666666667
3	96367654	96367654	C	T	SNP	MTRNR2L2	ENST00000600213	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31537	NULL	0.257	-	-	-	no_errors	MTRNR2L2	HGNC	ENSG00000269028	tier4	1152	1	0.0867302688638335	1229	185	13.0834512022631	558	2	0.353356890459364
3	96982648	96982648	T	G	SNP	EPHA6	ENST00000389672	human	ensembl	70_37	+1	known	intronic	c.1606+19517	e5+19517	0.000	-	-	-	no_errors	EPHA6	HGNC	ENSG00000080224	tier3	1801	0	0	2481	6	0.241060666934512	547	0	0
3	97347719	97347719	A	G	SNP	EPHA6	ENST00000389672	human	ensembl	70_37	+1	known	intronic	c.2575-8998	e14-8998	0.263	-	-	-	no_errors	EPHA6	HGNC	ENSG00000080224	tier3	1230	0	0	1712	2	0.116686114352392	665	0	0
3	98514123	98514123	A	C	SNP	ST3GAL6	ENST00000265261	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*1518	NULL	0.000	-	-	-	no_errors	ST3GAL6	HGNC	ENSG00000064225	tier3	562	0	0	815	1	0.122399020807834	283	2	0.701754385964912
3	100453312	100453312	C	T	SNP	TFG	ENST00000240851	human	ensembl	70_37	+1	known	intronic	c.580+1796	e4+1796	0.008	-	-	-	no_errors	TFG	HGNC	ENSG00000114354	tier3	805	0	0	1040	2	0.191938579654511	426	2	0.465116279069767
3	100562911	100562911	G	A	SNP	ABI3BP	ENST00000284322	human	ensembl	70_37	-1	known	intronic	c.1597+2305	e18+2305	0.000	-	-	-	no_errors	ABI3BP	HGNC	ENSG00000154175	tier3	1159	3	0.257289879931389	1038	481	31.6447368421053	610	0	0
3	101385569	101385569	C	A	SNP	ZBTB11	ENST00000312938	human	ensembl	70_37	-1	known	intronic	c.779-917	e4-917	0.002	-	-	-	no_errors	ZBTB11	HGNC	ENSG00000066422	tier3	845	0	0	1305	2	0.153022188217292	451	3	0.66079295154185
3	102182622	102182622	G	A	SNP	ZPLD1	ENST00000306176	human	ensembl	70_37	+1	known	intronic	c.729-393	e7-393	0.144	-	-	-	no_errors	ZPLD1	HGNC	ENSG00000170044	tier4	738	3	0.404858299595142	486	475	49.32502596054	305	75	19.7368421052632
3	102308102	102308102	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1405	0	0	1975	2	0.101163378856854	626	0	0
3	102572878	102572878	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1050	0	0	1197	168	12.3076923076923	586	0	0
3	102650881	102650881	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1180	0	0	1597	1	0.0625	566	7	1.2216404886562
3	102733652	102733652	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1250	0	0	1139	460	28.75	489	0	0
3	103040464	103040464	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1279	0	0	1765	3	0.169683257918552	543	0	0
3	103309610	103309610	C	T	SNP	ENSG00000243195	ENST00000472255	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39895	NULL	0.006	-	-	-	no_coding_region:pseudogene	RP11-628J14.2	Clone_based_vega_gene	ENSG00000243195	tier4	1587	0	0	1109	816	42.3676012461059	620	113	15.3741496598639
3	103632991	103632991	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1729	0	0	2396	4	0.166666666666667	643	0	0
3	105458139	105458139	A	C	SNP	CBLB	ENST00000264122	human	ensembl	70_37	-1	known	intronic	c.983+1199	e6+1199	0.000	-	-	-	no_errors	CBLB	HGNC	ENSG00000114423	tier3	1288	0	0	1836	2	0.108695652173913	571	0	0
3	106495966	106495966	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1147	0	0	1476	5	0.334448160535117	628	0	0
3	106995009	106995009	A	G	SNP	LOC344595	ENST00000490441	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-446H18.3	Clone_based_vega_gene	ENSG00000243701	tier4	1467	0	0	1819	2	0.109769484083425	627	0	0
3	107167980	107167980	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	933	0	0	710	513	41.9460343417825	369	107	22.3849372384937
3	108672962	108672962	A	G	SNP	GUCA1C	ENST00000261047	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-353	NULL	0.123	-	-	-	no_errors	GUCA1C	HGNC	ENSG00000138472	tier4	1368	0	0	1842	3	0.162425554953979	532	1	0.186915887850467
3	108732575	108732575	G	T	SNP	MORC1	ENST00000232603	human	ensembl	70_37	-1	known	intronic	c.1705-6637	e18-6637	0.834	-	-	-	no_errors	MORC1	HGNC	ENSG00000114487	tier4	327	0	0	441	2	0.451467268623025	223	7	3.04347826086957
3	108771480	108771480	A	G	SNP	MORC1	ENST00000232603	human	ensembl	70_37	-1	known	intronic	c.1330+2095	e14+2095	0.000	-	-	-	no_errors	MORC1	HGNC	ENSG00000114487	tier3	1434	0	0	1833	3	0.163309744148067	590	0	0
3	109137626	109137626	A	G	SNP	ENSG00000228980	ENST00000489670	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.085	-	-	-	no_errors	RP11-702L6.4	Clone_based_vega_gene	ENSG00000228980	tier1	924	1	0.108108108108108	724	568	43.9628482972136	437	40	8.38574423480084
3	110037464	110037464	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	745	0	0	1012	1	0.0986193293885602	390	2	0.50761421319797
3	110855240	110855240	T	G	SNP	PVRL3	ENST00000493615	human	ensembl	70_37	+1	putative	intronic	c.1001-8506	e6-8506	0.001	-	-	-	no_errors	PVRL3	HGNC	ENSG00000177707	tier3	1772	0	0	2228	3	0.134468848050202	744	0	0
3	111224881	111224881	T	C	SNP	ENSG00000241177	ENST00000460744	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.008	-	-	-	no_errors	RP11-615J4.1	Clone_based_vega_gene	ENSG00000241177	tier4	1254	0	0	1905	6	0.313971742543171	557	0	0
3	111309579	111309579	T	G	SNP	CD96	ENST00000283285	human	ensembl	70_37	+1	known	intronic	c.855+5354	e6+5354	0.000	-	-	-	no_errors	CD96	HGNC	ENSG00000153283	tier3	780	0	0	1006	3	0.297324083250743	392	0	0
3	111845060	111845060	T	G	SNP	GCSAM	ENST00000308910	human	ensembl	70_37	-1	known	intronic	c.190+774	e4+774	0.000	-	-	-	no_errors	GCSAM	HGNC	ENSG00000174500	tier3	688	0	0	889	3	0.335946248600224	276	0	0
3	112769703	112769703	T	A	SNP	ENSG00000240057	ENST00000460707	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	RP11-572M11.4	Clone_based_vega_gene	ENSG00000240057	tier4	905	0	0	1192	2	0.167364016736402	338	0	0
3	112769708	112769708	T	A	SNP	ENSG00000240057	ENST00000460707	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	RP11-572M11.4	Clone_based_vega_gene	ENSG00000240057	tier4	973	0	0	1299	3	0.230414746543779	371	0	0
3	112900360	112900360	A	C	SNP	ENSG00000240057	ENST00000463017	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-572M11.4	Clone_based_vega_gene	ENSG00000240057	tier4	322	0	0	398	2	0.5	121	1	0.819672131147541
3	114719578	114719578	T	G	SNP	ZBTB20	ENST00000357258	human	ensembl	70_37	-1	known	intronic	c.1-26315	e1-26315	0.001	-	-	-	no_errors	ZBTB20	HGNC	ENSG00000181722	tier3	1103	0	0	1261	3	0.237341772151899	577	0	0
3	115050227	115050227	A	G	SNP	ENSG00000242880	ENST00000459855	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*46033	NULL	0.008	-	-	-	no_errors	RP11-190P13.2	Clone_based_vega_gene	ENSG00000242880	tier4	962	0	0	1320	6	0.452488687782805	439	1	0.227272727272727
3	116582214	116582214	G	A	SNP	LSAMP	ENST00000539563	human	ensembl	70_37	-1	known	intronic	c.68-418412	e2-418412	0.000	-	-	-	overly_large_intron	LSAMP	HGNC	ENSG00000185565	tier4	1473	1	0.0677506775067751	967	821	45.917225950783	563	129	18.5878962536023
3	117640542	117640542	A	C	SNP	ENSG00000239268	ENST00000484092	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.803	-	-	-	no_errors	RP11-384F7.2	Clone_based_vega_gene	ENSG00000239268	tier3	587	0	0	749	2	0.265957446808511	368	0	0
3	118064660	118064660	A	G	SNP	ENSG00000243276	ENST00000482142	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.013	-	-	-	no_errors	RP11-384F7.1	Clone_based_vega_gene	ENSG00000243276	tier3	1924	0	0	2610	2	0.0765696784073507	544	2	0.364963503649635
3	119077673	119077673	T	G	SNP	ARHGAP31	ENST00000264245	human	ensembl	70_37	+1	known	intronic	c.101-6490	e2-6490	0.004	-	-	-	no_errors	ARHGAP31	HGNC	ENSG00000031081	tier4	1578	0	0	2413	2	0.0827814569536424	716	2	0.278551532033426
3	119758354	119758354	A	G	SNP	GSK3B	ENST00000316626	human	ensembl	70_37	-1	known	intronic	c.89-37268	e2-37268	0.008	-	-	-	no_errors	GSK3B	HGNC	ENSG00000082701	tier4	1123	0	0	1081	440	28.8903479973736	704	0	0
3	119773607	119773607	A	G	SNP	GSK3B	ENST00000316626	human	ensembl	70_37	-1	known	intronic	c.88+38587	e1+38587	0.001	-	-	-	no_errors	GSK3B	HGNC	ENSG00000082701	tier4	811	0	0	792	363	31.401384083045	476	0	0
3	120840095	120840095	G	T	SNP	STXBP5L	ENST00000273666	human	ensembl	70_37	+1	known	intronic	c.606-393	e6-393	0.000	-	-	-	no_errors	STXBP5L	HGNC	ENSG00000145087	tier3	1545	4	0.258064516129032	1097	920	45.612295488349	567	112	16.4948453608247
3	120847496	120847496	C	A	SNP	STXBP5L	ENST00000273666	human	ensembl	70_37	+1	known	intronic	c.669+6945	e6+6945	0.384	-	-	-	no_errors	STXBP5L	HGNC	ENSG00000145087	tier4	817	0	0	655	480	42.2907488986784	370	57	13.3489461358314
3	121321885	121321885	G	A	SNP	FBXO40	ENST00000338040	human	ensembl	70_37	+1	known	intronic	c.1+9536	e0+9536	0.000	-	-	-	no_errors	FBXO40	HGNC	ENSG00000163833	tier4	941	1	0.106157112526539	747	706	48.589125946318	444	97	17.9297597042514
3	121869779	121869779	A	T	SNP	CASR	ENST00000498619	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-103258	NULL	0.003	-	-	-	no_errors	CASR	HGNC	ENSG00000036828	tier4	1335	0	0	1874	16	0.846560846560847	646	0	0
3	124090623	124090623	A	C	SNP	KALRN	ENST00000360013	human	ensembl	70_37	+1	known	intronic	c.1765-13069	e11-13069	0.309	-	-	-	no_errors	KALRN	HGNC	ENSG00000160145	tier4	1183	0	0	794	630	44.2415730337079	434	140	24.390243902439
3	125504144	125504144	T	C	SNP	RPS3AP14	ENST00000483907	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9805	NULL	0.191	-	-	-	no_coding_region:pseudogene	RPS3AP14	HGNC	ENSG00000242229	tier3	1368	0	0	2001	2	0.0998502246630055	758	0	0
3	126778801	126778801	C	T	SNP	PLXNA1	ENST00000393409	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*25941	NULL	0.018	-	-	-	no_errors	PLXNA1	HGNC	ENSG00000114554	tier4	1295	0	0	1483	2	0.134498991257566	539	1	0.185185185185185
3	126825898	126825898	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	263	0	0	370	3	0.804289544235925	131	6	4.37956204379562
3	127163797	127163797	C	A	SNP	ENSG00000240562	ENST00000479610	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44599	NULL	0.018	-	-	-	no_errors	RP11-59J16.2	Clone_based_vega_gene	ENSG00000240562	tier3	562	0	0	392	302	43.5158501440922	299	53	15.0568181818182
3	127377839	127377839	T	C	SNP	PODXL2	ENST00000342480	human	ensembl	70_37	+1	known	intronic	c.350-1382	e3-1382	0.044	-	-	-	no_errors	PODXL2	HGNC	ENSG00000114631	tier4	722	0	0	993	2	0.201005025125628	420	2	0.471698113207547
3	127711685	127711685	G	A	SNP	KBTBD12	ENST00000405109	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*8564	NULL	0.002	-	-	-	no_errors	KBTBD12	HGNC	ENSG00000187715	tier4	1299	2	0.153491941673062	1723	222	11.402157164869	669	0	0
3	127745213	127745213	T	C	SNP	SEC61A1	ENST00000243253	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26183	NULL	0.000	-	-	-	no_errors	SEC61A1	HGNC	ENSG00000058262	tier4	591	0	0	733	71	8.83084577114428	294	0	0
3	128049240	128049240	A	C	SNP	EEFSEC	ENST00000254730	human	ensembl	70_37	+1	known	intronic	c.787-10836	e5-10836	0.000	-	-	-	no_errors	EEFSEC	HGNC	ENSG00000132394	tier4	335	0	0	509	2	0.391389432485323	153	0	0
3	129200219	129200219	T	C	SNP	IFT122	ENST00000296266	human	ensembl	70_37	+1	known	intronic	c.1642-154	e15-154	0.000	-	-	-	no_errors	IFT122	HGNC	ENSG00000163913	tier3	775	0	0	1089	2	0.183318056828598	392	0	0
3	130909608	130909608	T	C	SNP	NEK11	ENST00000383366	human	ensembl	70_37	+1	known	intronic	c.1399+19877	e12+19877	0.010	-	-	-	no_errors	NEK11	HGNC	ENSG00000114670	tier3	1816	2	0.10989010989011	1259	975	43.6436884512086	584	173	22.8533685601057
3	131254550	131254550	C	T	SNP	CPNE4	ENST00000502818	human	ensembl	70_37	-1	known	intronic	c.1594-377	e16-377	0.000	-	-	-	no_errors	CPNE4	HGNC	ENSG00000196353	tier3	1493	0	0	1401	535	27.6200309757357	746	2	0.267379679144385
3	131530440	131530440	A	C	SNP	CPNE4	ENST00000502818	human	ensembl	70_37	-1	known	intronic	c.235-87971	e3-87971	0.001	-	-	-	no_errors	CPNE4	HGNC	ENSG00000196353	tier3	975	0	0	1411	2	0.141442715700141	370	0	0
3	133966856	133966856	G	A	SNP	RYK	ENST00000427044	human	ensembl	70_37	-1	known	intronic	c.1+2411	e0+2411	0.000	-	-	-	no_errors	RYK	HGNC	ENSG00000163785	tier4	939	0	0	1235	20	1.59235668789809	380	110	22.4489795918367
3	136464167	136464167	C	A	SNP	STAG1	ENST00000383202	human	ensembl	70_37	-1	known	intronic	c.1+6870	e0+6870	0.005	-	-	-	no_errors	STAG1	HGNC	ENSG00000118007	tier3	1320	0	0	1909	2	0.10465724751439	569	0	0
3	137584640	137584640	T	G	SNP	ENSG00000241478	ENST00000485881	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14497	NULL	0.282	-	-	-	no_coding_region:pseudogene	RP11-598P12.1	Clone_based_vega_gene	ENSG00000241478	tier4	1091	0	0	1488	5	0.334896182183523	415	1	0.240384615384615
3	139704811	139704811	C	G	SNP	CLSTN2	ENST00000458420	human	ensembl	70_37	+1	known	intronic	c.109+50486	e1+50486	0.000	-	-	-	no_errors	CLSTN2	HGNC	ENSG00000158258	tier4	423	0	0	531	3	0.561797752808989	210	0	0
3	139824368	139824368	A	G	SNP	CLSTN2	ENST00000458420	human	ensembl	70_37	+1	known	intronic	c.110-70425	e2-70425	0.000	-	-	-	no_errors	CLSTN2	HGNC	ENSG00000158258	tier3	702	0	0	427	349	44.9742268041237	277	63	18.5294117647059
3	139941164	139941164	T	G	SNP	CLSTN2	ENST00000458420	human	ensembl	70_37	+1	known	intronic	c.232+46249	e2+46249	0.022	-	-	-	no_errors	CLSTN2	HGNC	ENSG00000158258	tier4	506	0	0	643	2	0.310077519379845	306	1	0.325732899022801
3	140125463	140125463	G	A	SNP	CLSTN2	ENST00000458420	human	ensembl	70_37	+1	known	intronic	c.637+1855	e4+1855	0.000	-	-	-	no_errors	CLSTN2	HGNC	ENSG00000158258	tier3	1118	0	0	733	683	48.2004234297812	351	62	15.0121065375303
3	141403009	141403009	A	C	SNP	ENSG00000242104	ENST00000474979	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.228	-	-	-	no_errors	RP11-340E6.1	Clone_based_vega_gene	ENSG00000242104	tier4	182	0	0	343	3	0.867052023121387	33	0	0
3	141544611	141544611	A	C	SNP	GRK7	ENST00000264952	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*8719	NULL	0.000	-	-	-	no_errors	GRK7	HGNC	ENSG00000114124	tier3	310	0	0	544	2	0.366300366300366	251	0	0
3	142069320	142069320	T	G	SNP	XRN1	ENST00000264951	human	ensembl	70_37	-1	known	intronic	c.3769-3136	e33-3136	0.009	-	-	-	no_errors	XRN1	HGNC	ENSG00000114127	tier4	1180	0	0	1704	1	0.0585823081429408	546	16	2.84697508896797
3	142570672	142570672	T	G	SNP	PCOLCE2	ENST00000295992	human	ensembl	70_37	-1	known	intronic	c.193-3358	e3-3358	0.000	-	-	-	no_errors	PCOLCE2	HGNC	ENSG00000163710	tier3	994	0	0	1398	2	0.142857142857143	440	2	0.451467268623025
3	143314819	143314819	A	G	SNP	SLC9A9	ENST00000316549	human	ensembl	70_37	-1	known	intronic	c.756-17254	e7-17254	0.000	-	-	-	no_errors	SLC9A9	HGNC	ENSG00000181804	tier3	1049	0	0	1474	2	0.13550135501355	471	0	0
3	143714283	143714283	T	G	SNP	C3orf58	ENST00000493396	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	C3orf58	HGNC	ENSG00000181744	tier3	1375	0	0	1991	2	0.100250626566416	518	2	0.384615384615385
3	143724229	143724229	A	C	SNP	C3orf58	ENST00000493396	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.785	-	-	-	no_errors	C3orf58	HGNC	ENSG00000181744	tier3	997	0	0	1376	2	0.145137880986938	555	0	0
3	144356209	144356209	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	427	0	0	514	2	0.387596899224806	236	3	1.25523012552301
3	144408394	144408394	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1880	1	0.053134962805526	2694	1	0.0371057513914657	826	8	0.956937799043062
3	144966818	144966818	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1297	0	0	1605	9	0.557620817843866	567	4	0.700525394045534
3	146025105	146025105	A	C	SNP	ENSG00000243596	ENST00000464158	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*35678	NULL	0.002	-	-	-	no_coding_region:pseudogene	RP11-758I14.2	Clone_based_vega_gene	ENSG00000243596	tier3	1229	0	0	1788	2	0.111731843575419	510	3	0.584795321637427
3	147006003	147006003	T	G	SNP	ENSG00000243620	ENST00000473299	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.015	-	-	-	no_errors	RP11-649A16.1	Clone_based_vega_gene	ENSG00000243620	tier3	1381	0	0	1929	3	0.15527950310559	553	1	0.18018018018018
3	147179743	147179743	C	T	SNP	ZIC1	ENST00000472523	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	ZIC1	HGNC	ENSG00000152977	tier3	1498	0	0	1058	799	43.0263866451265	506	82	13.8983050847458
3	151342666	151342666	A	G	SNP	ENSG00000241151	ENST00000492731	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12296	NULL	0.000	-	-	-	no_errors	RP11-454C18.1	Clone_based_vega_gene	ENSG00000241151	tier4	1068	0	0	1394	4	0.285918513223731	393	3	0.757575757575758
3	151367266	151367266	T	C	SNP	ENSG00000241151	ENST00000492731	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	RP11-454C18.1	Clone_based_vega_gene	ENSG00000241151	tier4	520	0	0	761	2	0.261780104712042	267	1	0.373134328358209
3	153855600	153855600	C	A	SNP	ARHGEF26	ENST00000356448	human	ensembl	70_37	+1	known	intronic	c.1269+8092	e3+8092	0.016	-	-	-	no_errors	ARHGEF26	HGNC	ENSG00000114790	tier4	2669	9	0.326323422770123	4227	13	0.296871431833752	657	18	2.54237288135593
3	153999140	153999140	T	G	SNP	DHX36	ENST00000496811	human	ensembl	70_37	-1	known	intronic	c.2377-489	e21-489	0.001	-	-	-	no_errors	DHX36	HGNC	ENSG00000174953	tier3	1088	0	0	1581	2	0.126342387871131	423	2	0.470588235294118
3	154843657	154843657	A	C	SNP	MME	ENST00000360490	human	ensembl	70_37	+1	known	intronic	c.720+7057	e7+7057	0.000	-	-	-	no_errors	MME	HGNC	ENSG00000196549	tier3	1242	0	0	1688	2	0.118343195266272	480	0	0
3	155696725	155696725	G	A	SNP	ENSG00000174930	ENST00000449668	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40710	NULL	0.001	-	-	-	no_coding_region:pseudogene	AC067721.2	Clone_based_vega_gene	ENSG00000174930	tier4	1846	0	0	1376	1068	43.6988543371522	699	126	15.0537634408602
3	155776539	155776539	T	G	SNP	KCNAB1	ENST00000477912	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	KCNAB1	HGNC	ENSG00000169282	tier3	1184	0	0	1650	3	0.181378476420798	517	4	0.766283524904215
3	158188101	158188101	G	T	SNP	RSRC1	ENST00000295930	human	ensembl	70_37	+1	known	intronic	c.652+9309	e6+9309	0.001	-	-	-	no_errors	RSRC1	HGNC	ENSG00000174891	tier3	964	0	0	1369	6	0.436363636363636	448	2	0.440528634361234
3	158897646	158897646	A	C	SNP	IQCJ-SCHIP1	ENST00000485419	human	ensembl	70_37	+1	known	intronic	c.10-65986	e2-65986	0.004	-	-	-	no_errors	IQCJ-SCHIP1	HGNC	ENSG00000250588	tier4	628	0	0	876	2	0.227790432801822	256	0	0
3	159048566	159048566	T	C	SNP	IQCJ-SCHIP1	ENST00000485419	human	ensembl	70_37	+1	known	intronic	c.291+68094	e4+68094	0.064	-	-	-	no_errors	IQCJ-SCHIP1	HGNC	ENSG00000250588	tier3	963	0	0	1303	2	0.153256704980843	469	1	0.211864406779661
3	159493097	159493097	T	G	SNP	IQCJ-SCHIP1	ENST00000485419	human	ensembl	70_37	+1	known	intronic	c.987+10170	e5+10170	0.000	-	-	-	no_errors	IQCJ-SCHIP1	HGNC	ENSG00000250588	tier3	989	0	0	1418	2	0.140745953553835	471	1	0.211864406779661
3	159609549	159609549	T	G	SNP	IQCJ-SCHIP1	ENST00000485419	human	ensembl	70_37	+1	known	intronic	c.1547-337	e10-337	0.000	-	-	-	no_errors	IQCJ-SCHIP1	HGNC	ENSG00000250588	tier3	567	0	0	849	2	0.234741784037559	294	1	0.338983050847458
3	161472558	161472558	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1607	0	0	2155	2	0.0927213722763097	672	4	0.586510263929619
3	161614171	161614171	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	515	0	0	684	3	0.436681222707424	254	1	0.392156862745098
3	162028666	162028666	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	612	0	0	688	2	0.289855072463768	328	2	0.606060606060606
3	162453957	162453957	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1645	0	0	1032	791	43.3900164563906	671	128	15.9402241594022
3	165289031	165289031	C	A	SNP	ENSG00000244128	ENST00000470138	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.306	-	-	-	no_errors	RP11-85M11.2	Clone_based_vega_gene	ENSG00000244128	tier4	1103	0	0	1465	3	0.204359673024523	447	0	0
3	166360169	166360169	G	A	SNP	PSAT1P4	ENST00000454471	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-48807	NULL	0.000	-	-	-	no_coding_region:pseudogene	PSAT1P4	HGNC	ENSG00000224962	tier3	1672	2	0.119260584376863	1166	1137	49.3489583333333	511	165	24.2647058823529
3	167243783	167243783	C	T	SNP	WDR49	ENST00000308378	human	ensembl	70_37	-1	known	intronic	c.1548+1825	e10+1825	0.941	-	-	-	no_errors	WDR49	HGNC	ENSG00000174776	tier3	602	1	0.165562913907285	539	259	32.4155193992491	368	0	0
3	167708687	167708687	T	C	SNP	ENSG00000242036	ENST00000471495	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34283	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-603B13.1	Clone_based_vega_gene	ENSG00000242036	tier4	835	0	0	676	503	42.6632739609839	391	69	15
3	169803689	169803689	A	G	SNP	ENSG00000268220	ENST00000599781	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2359	NULL	0.000	-	-	-	no_errors	AC008040.1	Clone_based_ensembl_gene	ENSG00000268220	tier3	831	0	0	1389	3	0.21551724137931	375	3	0.793650793650794
3	169812469	169812469	C	A	SNP	PHC3	ENST00000484068	human	ensembl	70_37	-1	known	intronic	c.485+2491	e3+2491	0.001	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	PHC3	HGNC	ENSG00000173889	tier3	671	0	0	938	1	0.106269925611052	333	6	1.75953079178886
3	170167924	170167924	C	G	SNP	CLDN11	ENST00000451576	human	ensembl	70_37	+1	known	intronic	c.391+26809	e2+26809	0.032	-	-	-	no_errors	CLDN11	HGNC	ENSG00000013297	tier4	941	0	0	1241	3	0.241157556270096	520	1	0.191938579654511
3	170502831	170502831	G	A	SNP	CLDN11	ENST00000486975	human	ensembl	70_37	+1	putative	intronic	c.498-74941	e4-74941	0.011	-	-	-	no_errors	CLDN11	HGNC	ENSG00000013297	tier4	1721	0	0	1217	1058	46.4850615114235	596	142	19.1891891891892
3	170861648	170861648	A	G	SNP	TNIK	ENST00000436636	human	ensembl	70_37	-1	known	intronic	c.1222-3350	e13-3350	0.004	-	-	-	no_errors	TNIK	HGNC	ENSG00000154310	tier3	901	0	0	1142	2	0.174672489082969	377	3	0.78740157480315
3	171338504	171338504	G	T	SNP	PLD1	ENST00000351298	human	ensembl	70_37	-1	known	intronic	c.2594-194	e23-194	0.019	-	-	-	no_errors	PLD1	HGNC	ENSG00000075651	tier3	423	0	0	607	3	0.490998363338789	225	5	2.17391304347826
3	173835006	173835006	A	C	SNP	NLGN1	ENST00000401917	human	ensembl	70_37	+1	known	intronic	c.767-158099	e5-158099	0.135	-	-	-	no_errors	NLGN1	HGNC	ENSG00000169760	tier3	687	0	0	819	6	0.726392251815981	296	0	0
3	174317965	174317965	G	A	SNP	NAALADL2	ENST00000489729	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	NAALADL2	HGNC	ENSG00000177694	tier3	1269	1	0.0786782061369001	805	784	49.3392070484582	476	131	21.5815485996705
3	177605238	177605238	A	C	SNP	ENSG00000231574	ENST00000434309	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	RP11-91K9.1	Clone_based_vega_gene	ENSG00000231574	tier3	458	0	0	640	3	0.46583850931677	236	0	0
3	179114529	179114529	G	T	SNP	ENSG00000269728	ENST00000595265	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.912	-	-	-	no_errors	RP11-145M9.4	Clone_based_vega_gene	ENSG00000269728	tier1	694	0	0	1198	2	0.166666666666667	281	0	0
3	180604740	180604740	G	C	SNP	FXR1	ENST00000469882	human	ensembl	70_37	+1	putative	intronic	c.1+18657	e0+18657	0.003	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	FXR1	HGNC	ENSG00000114416	tier4	779	0	0	644	511	44.2424242424242	378	85	18.2012847965739
3	181044962	181044962	G	T	SNP	SOX2-OT	ENST00000460739	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	SOX2-OT	HGNC	ENSG00000242808	tier3	1630	0	0	1995	2	0.1001001001001	726	2	0.274725274725275
3	181298956	181298956	T	C	SNP	SOX2-OT	ENST00000460739	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	SOX2-OT	HGNC	ENSG00000242808	tier3	969	0	0	1370	3	0.21849963583394	417	2	0.477326968973747
3	182329608	182329608	G	C	SNP	ENSG00000238837	ENST00000492416	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-32394	NULL	0.437	-	-	-	no_errors	RP11-646E18.2	Clone_based_vega_gene	ENSG00000238837	tier3	1049	1	0.0949667616334283	1391	23	1.62544169611307	441	104	19.0825688073395
3	183910255	183910255	T	C	SNP	ABCF3	ENST00000429586	human	ensembl	70_37	+1	known	intronic	c.1570-134	e17-134	0.159	-	-	-	no_errors	ABCF3	HGNC	ENSG00000161204	tier4	874	0	0	1463	3	0.204638472032742	458	2	0.434782608695652
3	185865598	185865598	A	C	SNP	DGKG	ENST00000265022	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*2281	NULL	0.012	-	-	-	no_errors	DGKG	HGNC	ENSG00000058866	tier3	1016	0	0	1583	2	0.126182965299685	439	1	0.227272727272727
3	185906296	185906296	A	C	SNP	DGKG	ENST00000265022	human	ensembl	70_37	-1	known	intronic	c.1918-128	e21-128	0.000	-	-	-	no_errors	DGKG	HGNC	ENSG00000058866	tier3	380	0	0	554	4	0.716845878136201	243	0	0
3	188817999	188817999	T	G	SNP	TPRG1	ENST00000412373	human	ensembl	70_37	+1	known	splice_region	c.1+6	e0+6	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	TPRG1	HGNC	ENSG00000188001	tier3	530	0	0	754	2	0.264550264550265	272	1	0.366300366300366
3	189342797	189342797	T	C	SNP	TP63	ENST00000264731	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6508	NULL	0.000	-	-	-	no_errors	TP63	HGNC	ENSG00000073282	tier4	1868	0	0	2613	2	0.0764818355640535	740	0	0
3	189620669	189620669	T	C	SNP	TP63	ENST00000264731	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*8378	NULL	0.000	-	-	-	no_errors	TP63	HGNC	ENSG00000073282	tier3	1418	0	0	1070	845	44.1253263707572	572	143	20
3	190031356	190031356	A	G	SNP	CLDN1	ENST00000295522	human	ensembl	70_37	-1	known	intronic	c.224-531	e2-531	0.010	-	-	-	no_errors	CLDN1	HGNC	ENSG00000163347	tier2	821	0	0	1140	1	0.0876424189307625	384	5	1.2853470437018
3	191049573	191049573	C	T	SNP	CCDC50	ENST00000392456	human	ensembl	70_37	+1	known	intronic	c.49+2061	e1+2061	0.002	-	-	-	no_errors	CCDC50	HGNC	ENSG00000152492	tier3	1442	0	0	998	869	46.5452597750402	473	67	12.4074074074074
3	191147634	191147634	C	A	SNP	PYDC2	ENST00000518817	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31318	NULL	0.001	-	-	-	no_errors	PYDC2	HGNC	ENSG00000253548	tier4	1150	2	0.173460537727667	1645	1	0.0607533414337789	531	14	2.56880733944954
3	191679976	191679976	G	A	SNP	ENSG00000216020	ENST00000401201	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-13767	NULL	0.000	-	-	-	no_errors	AC026320.1	Clone_based_ensembl_gene	ENSG00000216020	tier3	1457	1	0.0685871056241427	951	758	44.327485380117	633	155	19.6700507614213
3	191860800	191860800	T	C	SNP	FGF12	ENST00000454309	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*998	NULL	0.099	-	-	-	no_errors	FGF12	HGNC	ENSG00000114279	tier3	430	0	0	628	1	0.158982511923688	217	3	1.36363636363636
3	192010503	192010503	C	T	SNP	FGF12	ENST00000454309	human	ensembl	70_37	-1	known	intronic	c.414+42647	e3+42647	0.001	-	-	-	no_errors	FGF12	HGNC	ENSG00000114279	tier3	1178	0	0	904	692	43.331246086412	475	99	17.2473867595819
3	192867001	192867001	G	A	SNP	ENSG00000232130	ENST00000414895	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-143P4.2	Clone_based_vega_gene	ENSG00000232130	tier3	712	0	0	454	453	49.8898678414097	278	86	23.6263736263736
3	196532397	196532397	C	T	SNP	PAK2	ENST00000327134	human	ensembl	70_37	+1	known	intronic	c.468+143	e4+143	0.016	-	-	-	no_errors	PAK2	HGNC	ENSG00000180370	tier3	1333	1	0.0748502994011976	1913	67	3.38383838383838	671	0	0
3	196572770	196572770	G	A	SNP	SENP5	ENST00000323460	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39283	NULL	0.000	-	-	-	no_errors	SENP5	HGNC	ENSG00000119231	tier4	1509	1	0.0660938532716457	1293	1083	45.5042016806723	557	125	18.2748538011696
3	197117982	197117982	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	792	3	0.377358490566038	1079	6	0.551977920883165	404	12	2.8436018957346
3	197256727	197256727	G	T	SNP	BDH1	ENST00000495285	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-197256727	NULL	0.640	-	-	-	no_coding_region	BDH1	HGNC	ENSG00000161267	tier3	866	0	0	1201	4	0.33167495854063	396	3	0.744416873449132
3	197762880	197762880	T	C	SNP	LMLN	ENST00000330198	human	ensembl	70_37	+1	known	silent	c.1833	p.P611	0.998	NULL	pfam_Peptidase_M8	-	no_errors	LMLN	HGNC	ENSG00000185621	tier1	503	0	0	738	3	0.404858299595142	281	0	0
4	56258	56258	A	C	SNP	ZNF595	ENST00000526473	human	ensembl	70_37	+1	known	intronic	c.3+2873	e1+2873	0.047	-	-	-	no_errors	ZNF595	HGNC	ENSG00000197701	tier4	1642	0	0	2636	2	0.0757862826828344	910	0	0
4	312053	312053	T	G	SNP	ZNF732	ENST00000419098	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-12954	NULL	0.177	-	-	-	no_errors	ZNF732	HGNC	ENSG00000186777	tier3	719	0	0	983	3	0.304259634888438	351	3	0.847457627118644
4	348858	348858	G	T	SNP	ZNF141	ENST00000240499	human	ensembl	70_37	+1	known	intronic	c.226+10639	e3+10639	0.024	-	-	-	no_errors	ZNF141	HGNC	ENSG00000131127	tier4	1125	0	0	1594	2	0.12531328320802	601	4	0.658978583196046
4	2103219	2103219	T	G	SNP	POLN	ENST00000382865	human	ensembl	70_37	-1	known	intronic	c.1983-5559	e18-5559	0.040	-	-	-	no_errors	POLN	HGNC	ENSG00000130997	tier4	430	0	0	609	2	0.326797385620915	259	0	0
4	2422847	2422847	C	A	SNP	ENSG00000206113	ENST00000382849	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP11-503N18.1	Clone_based_vega_gene	ENSG00000206113	tier3	485	0	0	797	3	0.375	293	4	1.34680134680135
4	2568061	2568061	A	C	SNP	RNF4	ENST00000508235	human	ensembl	70_37	+1	known	intronic	c.299-29750	e4-29750	0.038	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	RNF4	HGNC	ENSG00000063978	tier4	557	0	0	992	2	0.201207243460765	407	0	0
4	3650904	3650904	G	T	SNP	ENSG00000250681	ENST00000505702	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15202	NULL	0.001	-	-	-	no_errors	RP3-368B9.2	Clone_based_vega_gene	ENSG00000250681	tier3	524	0	0	357	304	45.9909228441755	226	49	17.6895306859206
4	4239607	4239607	T	A	SNP	TMEM128	ENST00000382753	human	ensembl	70_37	-1	known	missense	c.454	p.T152S	0.998	NULL	NULL	-	no_errors	TMEM128	HGNC	ENSG00000132406	tier1	1957	0	0	2989	2	0.0668672684720829	870	1	0.114810562571757
4	5266627	5266627	A	T	SNP	STK32B	ENST00000282908	human	ensembl	70_37	+1	known	intronic	c.261-66320	e4-66320	0.000	-	-	-	no_errors	STK32B	HGNC	ENSG00000152953	tier4	1136	0	0	1297	2	0.153846153846154	584	1	0.170357751277683
4	6213200	6213200	A	T	SNP	LOC285484	ENST00000508601	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.078	-	-	-	no_errors	RP11-586D19.1	Clone_based_vega_gene	ENSG00000249896	tier4	1695	0	0	1955	222	10.1928374655647	687	0	0
4	7341433	7341433	C	T	SNP	SORCS2	ENST00000507866	human	ensembl	70_37	+1	known	intronic	c.481-56582	e2-56582	0.000	-	-	-	no_errors	SORCS2	HGNC	ENSG00000184985	tier4	726	0	0	500	404	44.6902654867257	316	77	19.3954659949622
4	7343874	7343874	C	T	SNP	SORCS2	ENST00000507866	human	ensembl	70_37	+1	known	intronic	c.481-54141	e2-54141	0.001	-	-	-	no_errors	SORCS2	HGNC	ENSG00000184985	tier3	680	0	0	413	358	46.3730569948187	255	74	22.3564954682779
4	8332143	8332143	C	T	SNP	ACOX3	ENST00000356406	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36545	NULL	0.000	-	-	-	no_errors	ACOX3	HGNC	ENSG00000087008	tier3	500	0	0	371	258	41.0174880763116	175	32	15.4589371980676
4	11154995	11154995	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	651	0	0	865	3	0.345224395857307	330	5	1.49253731343284
4	11792500	11792500	T	G	SNP	ENSG00000249631	ENST00000510095	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-281P23.2	Clone_based_vega_gene	ENSG00000249631	tier3	1055	0	0	1389	1	0.0719424460431655	396	5	1.24688279301746
4	11908367	11908367	A	G	SNP	ENSG00000248262	ENST00000514103	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-7924	NULL	0.000	-	-	-	no_errors	RP11-1J7.1	Clone_based_vega_gene	ENSG00000248262	tier3	1612	0	0	2209	5	0.22583559168925	655	1	0.152439024390244
4	11949138	11949138	T	C	SNP	ENSG00000248262	ENST00000514103	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*27826	NULL	0.000	-	-	-	no_errors	RP11-1J7.1	Clone_based_vega_gene	ENSG00000248262	tier4	845	0	0	1118	4	0.35650623885918	392	4	1
4	11951829	11951829	G	T	SNP	ENSG00000248262	ENST00000514103	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*30517	NULL	0.001	-	-	-	no_errors	RP11-1J7.1	Clone_based_vega_gene	ENSG00000248262	tier3	1812	1	0.0550964187327824	2451	4	0.162866449511401	702	8	1.12044817927171
4	12014192	12014192	C	A	SNP	ENSG00000266669	ENST00000582396	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*779	NULL	0.004	-	-	-	no_errors	AC097452.1	Clone_based_ensembl_gene	ENSG00000266669	tier3	1023	0	0	1291	4	0.308641975308642	493	4	0.795228628230616
4	12513983	12513983	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1031	0	0	1265	2	0.157728706624606	420	0	0
4	12571227	12571227	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	935	0	0	1233	1	0.0810372771474878	356	5	1.38504155124654
4	12710282	12710282	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	728	0	0	1013	6	0.588812561334642	322	1	0.309597523219814
4	13191632	13191632	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	861	0	0	1149	2	0.173460537727667	410	4	0.966183574879227
4	13360253	13360253	C	T	SNP	RAB28	ENST00000330852	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*9929	NULL	1.000	-	-	-	no_errors	RAB28	HGNC	ENSG00000157869	tier3	842	0	0	1191	2	0.16750418760469	393	0	0
4	14269817	14269817	T	G	SNP	ENSG00000249988	ENST00000505628	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*25381	NULL	0.003	-	-	-	no_errors	RP11-669M16.1	Clone_based_vega_gene	ENSG00000249988	tier2	828	0	0	1029	1	0.0970873786407767	397	5	1.24378109452736
4	14490599	14490599	G	A	SNP	LINC00504	ENST00000505089	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.018	-	-	-	no_errors	LINC00504	HGNC	ENSG00000248360	tier4	688	0	0	938	2	0.212314225053079	418	0	0
4	15202849	15202849	A	G	SNP	ENSG00000249252	ENST00000502344	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-665G4.1	Clone_based_vega_gene	ENSG00000249252	tier3	955	0	0	1419	2	0.140745953553835	347	1	0.28735632183908
4	15478069	15478069	C	A	SNP	CC2D2A	ENST00000413206	human	ensembl	70_37	+1	known	intronic	c.39+474	e1+474	0.153	-	-	-	no_errors	CC2D2A	HGNC	ENSG00000048342	tier4	932	0	0	1278	4	0.31201248049922	424	5	1.16550116550117
4	16982751	16982751	G	C	SNP	ENSG00000249998	ENST00000511735	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.011	-	-	-	no_errors	RP11-141E13.1	Clone_based_vega_gene	ENSG00000249998	tier4	664	0	0	943	3	0.316122233930453	351	0	0
4	18255634	18255634	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1896	0	0	2744	2	0.0728332119446468	840	1	0.118906064209275
4	18888277	18888277	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1323	0	0	1780	2	0.112233445566779	481	2	0.41407867494824
4	20843467	20843467	T	C	SNP	KCNIP4	ENST00000382150	human	ensembl	70_37	-1	known	intronic	c.225+8699	e2+8699	0.008	-	-	-	no_errors	KCNIP4	HGNC	ENSG00000185774	tier3	1341	0	0	1806	2	0.110619469026549	541	1	0.18450184501845
4	20871626	20871626	C	G	SNP	KCNIP4	ENST00000382150	human	ensembl	70_37	-1	known	intronic	c.101-19336	e2-19336	0.000	-	-	-	no_errors	KCNIP4	HGNC	ENSG00000185774	tier4	2014	0	0	2690	3	0.111358574610245	682	2	0.291545189504373
4	20877376	20877376	A	G	SNP	KCNIP4	ENST00000382150	human	ensembl	70_37	-1	known	intronic	c.101-25086	e2-25086	0.401	-	-	-	no_errors	KCNIP4	HGNC	ENSG00000185774	tier3	739	1	0.135135135135135	513	429	45.5414012738854	343	74	17.7458033573141
4	21086343	21086343	T	C	SNP	KCNIP4	ENST00000382150	human	ensembl	70_37	-1	known	intronic	c.100+219087	e1+219087	0.000	-	-	-	no_errors	KCNIP4	HGNC	ENSG00000185774	tier3	724	0	0	893	2	0.223214285714286	323	1	0.308641975308642
4	21642250	21642250	C	G	SNP	KCNIP4	ENST00000382148	human	ensembl	70_37	-1	known	intronic	c.88+56723	e1+56723	0.000	-	-	-	no_errors	KCNIP4	HGNC	ENSG00000185774	tier4	1011	0	0	735	557	43.0448222565688	415	73	14.867617107943
4	21757485	21757485	A	C	SNP	KCNIP4	ENST00000512102	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	KCNIP4	HGNC	ENSG00000185774	tier3	1669	0	0	2264	1	0.0441501103752759	835	12	1.41676505312869
4	22071151	22071151	A	G	SNP	ENSG00000250039	ENST00000510705	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.017	-	-	-	no_errors	RP11-17E2.2	Clone_based_vega_gene	ENSG00000250039	tier4	1854	0	0	2411	2	0.0828843762950684	697	0	0
4	22213965	22213965	T	G	SNP	ENSG00000250039	ENST00000510705	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-17E2.2	Clone_based_vega_gene	ENSG00000250039	tier3	872	0	0	1123	2	0.177777777777778	414	1	0.240963855421687
4	23260757	23260757	C	A	SNP	ENSG00000249547	ENST00000512563	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-453O5.1	Clone_based_vega_gene	ENSG00000249547	tier4	891	0	0	1156	5	0.430663221360896	403	4	0.982800982800983
4	23661258	23661258	C	A	SNP	ENSG00000250137	ENST00000514290	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.626	-	-	-	no_errors	RP11-380P13.1	Clone_based_vega_gene	ENSG00000250137	tier3	668	0	0	842	2	0.23696682464455	334	1	0.298507462686567
4	23916413	23916413	T	C	SNP	PPARGC1A	ENST00000264867	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24833	NULL	0.000	-	-	-	no_errors	PPARGC1A	HGNC	ENSG00000109819	tier3	985	0	0	1222	2	0.163398692810458	340	0	0
4	23979889	23979889	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1295	0	0	1746	5	0.285551113649343	556	1	0.178890876565295
4	24245623	24245623	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1186	0	0	1673	1	0.0597371565113501	492	3	0.603621730382294
4	25002274	25002274	C	A	SNP	LGI2	ENST00000382114	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*2799	NULL	0.000	-	-	-	no_errors	LGI2	HGNC	ENSG00000153012	tier3	692	0	0	501	407	44.7744774477448	277	73	20.8571428571429
4	25396253	25396253	A	G	SNP	ANAPC4	ENST00000510092	human	ensembl	70_37	+1	known	intronic	c.942-40	e12-40	0.003	-	-	-	no_errors	ANAPC4	HGNC	ENSG00000053900	tier3	1239	1	0.0806451612903226	876	720	45.0563204005006	498	110	18.0921052631579
4	25822184	25822184	A	G	SNP	SEL1L3	ENST00000399878	human	ensembl	70_37	-1	known	intronic	c.1291-622	e8-622	0.104	-	-	-	no_errors	SEL1L3	HGNC	ENSG00000091490	tier4	916	0	0	1452	4	0.274725274725275	470	0	0
4	26234871	26234871	A	G	SNP	RBPJ	ENST00000512351	human	ensembl	70_37	+1	known	intronic	c.1+69635	e0+69635	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	RBPJ	HGNC	ENSG00000168214	tier3	1348	0	0	2142	2	0.0932835820895522	622	60	8.7719298245614
4	26753575	26753575	T	G	SNP	TBC1D19	ENST00000264866	human	ensembl	70_37	+1	known	intronic	c.1436-1867	e20-1867	0.003	-	-	-	no_errors	TBC1D19	HGNC	ENSG00000109680	tier3	785	0	0	1140	7	0.610287707061901	305	55	15.2777777777778
4	26947490	26947490	C	A	SNP	STIM2	ENST00000382009	human	ensembl	70_37	+1	known	intronic	c.544-11744	e3-11744	0.680	-	-	-	no_errors	STIM2	HGNC	ENSG00000109689	tier4	861	0	0	1274	4	0.312989045383412	457	5	1.08225108225108
4	28266446	28266446	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1407	2	0.14194464158978	1215	496	28.9719626168224	703	0	0
4	28431132	28431132	G	T	SNP	ENSG00000250064	ENST00000509416	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5939	NULL	0.538	-	-	-	no_errors	RP11-123O22.1	Clone_based_vega_gene	ENSG00000250064	tier4	1205	0	0	774	599	43.6270939548434	401	94	18.989898989899
4	28551256	28551256	G	C	SNP	ENSG00000250064	ENST00000509416	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-123O22.1	Clone_based_vega_gene	ENSG00000250064	tier3	1453	0	0	1945	2	0.102616726526424	654	4	0.604229607250755
4	30204642	30204642	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1130	0	0	782	511	39.4594594594595	424	56	11.6666666666667
4	31799405	31799405	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1276	0	0	1523	2	0.131147540983607	539	1	0.184842883548983
4	31983983	31983983	G	A	SNP	ENSG00000251129	ENST00000513211	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15036	NULL	0.000	-	-	-	no_errors	RP11-734I18.1	Clone_based_vega_gene	ENSG00000251129	tier4	1134	0	0	731	550	42.9352068696331	477	105	18.0412371134021
4	32172761	32172761	A	C	SNP	ENSG00000251129	ENST00000513211	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15733	NULL	0.002	-	-	-	no_errors	RP11-734I18.1	Clone_based_vega_gene	ENSG00000251129	tier3	1579	0	0	2124	3	0.140977443609023	822	0	0
4	32643789	32643789	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1490	0	0	1973	23	1.15172759138708	772	2	0.255102040816327
4	34124254	34124254	C	T	SNP	ENSG00000248685	ENST00000513843	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-548L20.1	Clone_based_vega_gene	ENSG00000248685	tier3	1019	0	0	675	635	48.3993902439024	400	67	14.2553191489362
4	35730699	35730699	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1242	0	0	1799	2	0.111049416990561	632	0	0
4	37919550	37919550	C	A	SNP	TBC1D1	ENST00000261439	human	ensembl	70_37	+1	known	intronic	c.417+15417	e1+15417	0.000	-	-	-	no_errors	TBC1D1	HGNC	ENSG00000065882	tier3	1026	0	0	1526	2	0.130890052356021	618	0	0
4	38291088	38291088	A	C	SNP	ENSG00000251642	ENST00000506010	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*1976	NULL	0.000	-	-	-	no_errors	RP11-600L4.1	Clone_based_vega_gene	ENSG00000251642	tier4	437	0	0	676	2	0.294985250737463	244	2	0.813008130081301
4	38344617	38344617	A	C	SNP	ENSG00000248227	ENST00000503465	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23918	NULL	0.020	-	-	-	no_errors	RP11-83C7.1	Clone_based_vega_gene	ENSG00000248227	tier4	832	0	0	1126	2	0.177304964539007	412	0	0
4	38533195	38533195	A	C	SNP	ENSG00000251635	ENST00000512170	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-32429	NULL	0.000	-	-	-	no_errors	RP11-213G21.2	Clone_based_vega_gene	ENSG00000251635	tier3	874	0	0	1221	2	0.163532297628782	361	0	0
4	38822562	38822562	T	C	SNP	TLR1	ENST00000506146	human	ensembl	70_37	-1	known	intronic	c.1-15748	e1-15748	0.014	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	TLR1	HGNC	ENSG00000174125	tier3	279	0	0	427	3	0.697674418604651	162	1	0.613496932515337
4	39724298	39724298	G	A	SNP	UBE2K	ENST00000261427	human	ensembl	70_37	+1	known	intronic	c.64-14742	e2-14742	0.098	-	-	-	no_errors	UBE2K	HGNC	ENSG00000078140	tier4	762	0	0	627	550	46.6893039049236	431	79	15.4901960784314
4	41925192	41925192	C	T	SNP	TMEM33	ENST00000325094	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12310	NULL	0.004	-	-	-	no_errors	TMEM33	HGNC	ENSG00000109133	tier4	826	0	0	492	434	46.8176914778857	376	82	17.9039301310044
4	43495604	43495604	G	A	SNP	ENSG00000248143	ENST00000508563	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-1044	NULL	0.011	-	-	-	no_errors	RP11-324J13.2	Clone_based_vega_gene	ENSG00000248143	tier4	2480	2	0.0805152979066023	1773	1680	48.6392588303416	609	171	21.8112244897959
4	43849001	43849001	T	C	SNP	ENSG00000239679	ENST00000491708	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-16290	NULL	0.019	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000239679	tier4	453	0	0	668	3	0.447093889716841	307	0	0
4	44655879	44655879	C	T	SNP	YIPF7	ENST00000508947	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	YIPF7	HGNC	ENSG00000177752	tier3	1893	0	0	2190	257	10.5026563138537	849	4	0.466744457409568
4	44849362	44849362	G	A	SNP	ENSG00000249729	ENST00000512950	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5943	NULL	0.007	-	-	-	no_coding_region:pseudogene	RP11-55C6.1	Clone_based_vega_gene	ENSG00000249729	tier3	1086	0	0	622	639	50.6339144215531	440	110	20
4	45597974	45597974	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	751	3	0.397877984084881	515	383	42.6028921023359	358	65	15.3664302600473
4	46383891	46383891	T	G	SNP	GABRA2	ENST00000540012	human	ensembl	70_37	-1	known	intronic	c.90+4200	e1+4200	0.000	-	-	-	no_errors	GABRA2	HGNC	ENSG00000151834	tier3	1562	0	0	2074	4	0.192492781520693	538	3	0.55452865064695
4	47159171	47159171	C	T	SNP	GABRB1	ENST00000295454	human	ensembl	70_37	+1	known	intronic	c.241-4095	e4-4095	0.632	-	-	-	no_errors	GABRB1	HGNC	ENSG00000163288	tier2	1438	0	0	1054	827	43.94261424017	529	106	16.6929133858268
4	47507766	47507766	G	A	SNP	ATP10D	ENST00000273859	human	ensembl	70_37	+1	known	intronic	c.1-6755	e1-6755	0.000	-	-	-	no_errors	ATP10D	HGNC	ENSG00000145246	tier4	2059	0	0	2975	3	0.100603621730382	642	2	0.309597523219814
4	48016750	48016750	T	G	SNP	CNGA1	ENST00000514170	human	ensembl	70_37	-1	known	intronic	c.1+1750	e0+1750	0.000	-	-	-	no_errors	CNGA1	HGNC	ENSG00000198515	tier4	924	0	0	719	661	47.8985507246377	395	101	20.3629032258065
4	48118924	48118924	G	C	SNP	TXK	ENST00000264316	human	ensembl	70_37	-1	known	intronic	c.17-2505	e2-2505	0.000	-	-	-	no_errors	TXK	HGNC	ENSG00000074966	tier4	973	0	0	739	684	48.0674631061138	338	106	23.8738738738739
4	48721636	48721636	T	C	SNP	FRYL	ENST00000358350	human	ensembl	70_37	-1	known	intronic	c.1-8921	e1-8921	0.966	-	-	-	no_errors	FRYL	HGNC	ENSG00000075539	tier4	629	0	0	912	3	0.327868852459016	296	3	1.00334448160535
4	48781171	48781171	A	C	SNP	FRYL	ENST00000358350	human	ensembl	70_37	-1	known	intronic	c.1+924	e0+924	0.000	-	-	-	no_errors	FRYL	HGNC	ENSG00000075539	tier2	702	0	0	1064	1	0.0938967136150235	401	7	1.7156862745098
4	49094996	49094996	C	A	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*31089	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier4	1834	0	0	2367	2	0.0844238075137189	880	1	0.113507377979569
4	49095002	49095002	C	G	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*31095	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier4	1917	0	0	2471	2	0.0808734330772341	875	0	0
4	49100463	49100463	T	C	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*36556	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier4	516	0	0	697	2	0.284900284900285	266	0	0
4	49104680	49104680	T	A	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40773	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier4	117	0	0	181	2	1.08695652173913	90	0	0
4	49106061	49106061	T	A	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42154	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier4	983	0	0	1313	3	0.227963525835866	477	2	0.415800415800416
4	49106259	49106259	A	T	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42352	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier3	1175	0	0	1627	2	0.122624156958921	497	0	0
4	49106261	49106261	T	C	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42354	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier3	1171	0	0	1620	5	0.30750307503075	499	0	0
4	49107899	49107899	C	T	SNP	CWH43	ENST00000226432	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*43992	NULL	0.000	-	-	-	no_errors	CWH43	HGNC	ENSG00000109182	tier3	390	0	0	529	3	0.56390977443609	155	2	1.27388535031847
4	49120801	49120801	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	93	0	0	166	2	1.17647058823529	30	0	0
4	49128807	49128807	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	566	0	0	845	2	0.236127508854782	252	2	0.78740157480315
4	49128820	49128820	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	508	0	0	803	3	0.372208436724566	232	2	0.854700854700855
4	49142902	49142902	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	268	0	0	422	2	0.466200466200466	147	0	0
4	49144369	49144369	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	319	0	0	425	3	0.696055684454756	196	2	1.01010101010101
4	49155393	49155393	T	C	SNP	ENSG00000221415	ENST00000408488	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-44831	NULL	0.000	-	-	-	no_errors	AC118282.1	Clone_based_ensembl_gene	ENSG00000221415	tier4	1774	0	0	2257	4	0.176912870411322	1045	0	0
4	49155475	49155475	C	A	SNP	ENSG00000221415	ENST00000408488	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-44749	NULL	0.000	-	-	-	no_errors	AC118282.1	Clone_based_ensembl_gene	ENSG00000221415	tier4	993	0	0	1243	3	0.239808153477218	582	4	0.68259385665529
4	49156050	49156050	T	A	SNP	ENSG00000221415	ENST00000408488	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-44174	NULL	0.000	-	-	-	no_errors	AC118282.1	Clone_based_ensembl_gene	ENSG00000221415	tier4	1158	0	0	1678	3	0.178465199286139	1619	0	0
4	49156732	49156732	C	G	SNP	ENSG00000221415	ENST00000408488	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-43492	NULL	0.000	-	-	-	no_errors	AC118282.1	Clone_based_ensembl_gene	ENSG00000221415	tier4	66	0	0	112	2	1.72413793103448	42	2	4.54545454545455
4	49215259	49215259	T	G	SNP	ENSG00000249079	ENST00000508739	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-618	NULL	0.034	-	-	-	no_coding_region:pseudogene	RP11-1281K21.3	Clone_based_vega_gene	ENSG00000249079	tier3	248	0	0	304	2	0.65359477124183	142	0	0
4	49239139	49239139	T	G	SNP	ENSG00000237961	ENST00000428211	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-49239139	NULL	0.009	-	-	-	no_coding_region:pseudogene	RP11-1281K21.1	Clone_based_vega_gene	ENSG00000237961	tier3	789	0	0	1072	2	0.186219739292365	588	0	0
4	49257400	49257400	T	G	SNP	ENSG00000237961	ENST00000428211	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11013	NULL	0.167	-	-	-	no_coding_region:pseudogene	RP11-1281K21.1	Clone_based_vega_gene	ENSG00000237961	tier4	3476	0	0	4554	3	0.0658039043649923	2204	1	0.0453103760761214
4	49289625	49289625	G	C	SNP	ENSG00000237961	ENST00000428211	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43238	NULL	0.004	-	-	-	no_coding_region:pseudogene	RP11-1281K21.1	Clone_based_vega_gene	ENSG00000237961	tier3	1079	0	0	1490	2	0.133868808567604	739	2	0.26525198938992
4	49645051	49645051	C	G	SNP	ENSG00000221075	ENST00000408148	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-47342	NULL	0.000	-	-	-	no_errors	AC119751.1	Clone_based_ensembl_gene	ENSG00000221075	tier4	2802	0	0	4117	3	0.0727978645959719	2586	2	0.0770416024653313
4	49650516	49650516	G	A	SNP	ENSG00000221082	ENST00000408155	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-49802	NULL	0.000	-	-	-	no_errors	AC119751.2	Clone_based_ensembl_gene	ENSG00000221082	tier4	159	0	0	189	4	2.04081632653061	116	4	3.27868852459016
4	49656761	49656761	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	136	0	0	205	2	0.956937799043062	42	0	0
4	56319052	56319052	T	G	SNP	CLOCK	ENST00000309964	human	ensembl	70_37	-1	known	intronic	c.1206+169	e12+169	0.003	-	-	-	no_errors	CLOCK	HGNC	ENSG00000134852	tier3	646	0	0	927	2	0.215285252960172	365	2	0.544959128065395
4	58637878	58637878	C	G	SNP	ENSG00000249831	ENST00000508135	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*47057	NULL	0.000	-	-	-	no_errors	RP11-4O3.2	Clone_based_vega_gene	ENSG00000249831	tier3	1164	1	0.0856898029134533	804	699	46.4760638297872	413	92	18.2178217821782
4	60737881	60737881	C	T	SNP	ENSG00000201676	ENST00000364806	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*38887	NULL	0.000	-	-	-	no_errors	Y_RNA	RFAM	ENSG00000201676	tier3	2070	0	0	1413	1167	45.2325581395349	676	176	20.6572769953052
4	60998267	60998267	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1330	0	0	911	647	41.5009621552277	490	126	20.3225806451613
4	61374693	61374693	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	420	1	0.237529691211401	528	4	0.75187969924812	234	10	4.0983606557377
4	62080895	62080895	G	T	SNP	LPHN3	ENST00000514591	human	ensembl	70_37	+1	known	intronic	c.1+12946	e0+12946	0.000	-	-	-	no_errors	LPHN3	HGNC	ENSG00000150471	tier3	862	0	0	1163	2	0.171673819742489	424	5	1.16550116550117
4	62319221	62319221	A	T	SNP	LPHN3	ENST00000514591	human	ensembl	70_37	+1	known	intronic	c.1-43618	e1-43618	0.005	-	-	-	no_errors	LPHN3	HGNC	ENSG00000150471	tier3	1007	0	0	1327	6	0.450112528132033	454	1	0.21978021978022
4	62474895	62474895	C	T	SNP	LPHN3	ENST00000507625	human	ensembl	70_37	+1	known	intronic	c.473+21737	e3+21737	0.107	-	-	-	no_errors	LPHN3	HGNC	ENSG00000150471	tier3	1181	0	0	1591	3	0.188087774294671	458	0	0
4	62570452	62570452	T	C	SNP	LPHN3	ENST00000507625	human	ensembl	70_37	+1	known	intronic	c.584-25888	e5-25888	0.005	-	-	-	no_errors	LPHN3	HGNC	ENSG00000150471	tier4	809	0	0	1066	5	0.466853408029879	386	2	0.515463917525773
4	62769061	62769061	C	T	SNP	LPHN3	ENST00000507625	human	ensembl	70_37	+1	known	intronic	c.1888-6217	e10-6217	0.000	-	-	-	no_errors	LPHN3	HGNC	ENSG00000150471	tier4	781	2	0.255427841634738	523	441	45.746887966805	383	69	15.2654867256637
4	63123768	63123768	T	G	SNP	ENSG00000250249	ENST00000509121	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33512	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-30P21.2	Clone_based_vega_gene	ENSG00000250249	tier4	442	0	0	507	1	0.196850393700787	212	2	0.934579439252336
4	63159040	63159040	G	C	SNP	ENSG00000241344	ENST00000483696	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*44552	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-30P21.1	Clone_based_vega_gene	ENSG00000241344	tier3	605	0	0	385	363	48.5294117647059	262	79	23.0320699708455
4	63352249	63352249	A	T	SNP	HMGN1P11	ENST00000508668	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23938	NULL	0.608	-	-	-	no_coding_region:pseudogene	HMGN1P11	HGNC	ENSG00000248336	tier3	618	0	0	883	3	0.338600451467269	406	0	0
4	63663189	63663189	G	A	SNP	EXOC5P1	ENST00000510543	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-19355	NULL	0.004	-	-	-	no_coding_region:pseudogene	EXOC5P1	HGNC	ENSG00000180673	tier4	1330	1	0.0749625187406297	1170	513	30.4812834224599	646	0	0
4	63875113	63875113	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	970	0	0	1324	3	0.226073850791258	516	2	0.385356454720617
4	64335192	64335192	G	T	SNP	ENSG00000250775	ENST00000508825	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-12K22.1	Clone_based_vega_gene	ENSG00000250775	tier3	1469	0	0	1868	30	1.57977883096366	502	114	18.4764991896272
4	65373732	65373732	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	453	0	0	539	3	0.552486187845304	232	0	0
4	66332371	66332371	T	A	SNP	EPHA5	ENST00000273854	human	ensembl	70_37	-1	known	intronic	c.1402+23724	e5+23724	0.000	-	-	-	no_errors	EPHA5	HGNC	ENSG00000145242	tier4	1883	1	0.0530785562632696	1254	1075	46.1571489909833	678	149	17.9518072289157
4	66510797	66510797	A	C	SNP	EPHA5	ENST00000273854	human	ensembl	70_37	-1	known	intronic	c.182-1652	e2-1652	0.000	-	-	-	no_errors	EPHA5	HGNC	ENSG00000145242	tier3	893	0	0	1183	3	0.252951096121417	387	0	0
4	67055452	67055452	A	T	SNP	ENSG00000249413	ENST00000508572	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*39722	NULL	0.000	-	-	-	no_errors	RP11-25H12.1	Clone_based_vega_gene	ENSG00000249413	tier3	1228	0	0	867	710	44.9651678277391	425	111	20.7089552238806
4	67318378	67318378	G	A	SNP	ENSG00000244099	ENST00000470993	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*21139	NULL	0.010	-	-	-	no_coding_region:pseudogene	RP11-793B9.1	Clone_based_vega_gene	ENSG00000244099	tier4	1713	0	0	1262	981	43.716577540107	488	119	19.6046128500824
4	67571704	67571704	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	816	0	0	1070	2	0.186393289841566	305	1	0.326797385620915
4	67586056	67586056	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1057	0	0	706	604	46.1068702290076	393	75	15.9574468085106
4	67599087	67599087	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1234	0	0	1769	3	0.169204737732657	511	6	1.1605415860735
4	69680233	69680233	A	G	SNP	ENSG00000251236	ENST00000507455	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*69680233	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-468N14.1	Clone_based_vega_gene	ENSG00000251236	tier3	2039	0	0	1364	1067	43.8373048479869	656	183	21.8116805721097
4	70416828	70416828	C	A	SNP	UGT2B4	ENST00000381096	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25381	NULL	0.094	-	-	-	no_errors	UGT2B4	HGNC	ENSG00000156096	tier4	1871	2	0.106723585912487	1325	1082	44.9335548172757	631	133	17.4083769633508
4	71661104	71661104	G	T	SNP	RUFY3	ENST00000507333	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RUFY3	HGNC	ENSG00000018189	tier3	1481	0	0	2397	5	0.208159866777685	826	6	0.721153846153846
4	72398042	72398042	T	C	SNP	SLC4A4	ENST00000425175	human	ensembl	70_37	+1	known	intronic	c.2280+150	e16+150	0.001	-	-	-	no_errors	SLC4A4	HGNC	ENSG00000080493	tier3	1179	0	0	1439	20	1.37080191912269	411	98	19.2534381139489
4	72434004	72434004	C	T	SNP	SLC4A4	ENST00000425175	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*394	NULL	0.347	-	-	-	no_errors	SLC4A4	HGNC	ENSG00000080493	tier3	981	0	0	1294	2	0.15420200462606	376	1	0.26525198938992
4	73306072	73306072	T	C	SNP	ADAMTS3	ENST00000286657	human	ensembl	70_37	-1	known	intronic	c.505-25384	e4-25384	0.000	-	-	-	no_errors	ADAMTS3	HGNC	ENSG00000156140	tier3	973	0	0	1432	3	0.209059233449477	441	2	0.449438202247191
4	73377839	73377839	T	G	SNP	ADAMTS3	ENST00000286657	human	ensembl	70_37	-1	known	intronic	c.504+36356	e3+36356	0.028	-	-	-	no_errors	ADAMTS3	HGNC	ENSG00000156140	tier4	1246	0	0	1643	3	0.182038834951456	451	1	0.221238938053097
4	73765309	73765309	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1289	0	0	1756	3	0.170551449687322	586	0	0
4	74106309	74106309	T	C	SNP	ANKRD17	ENST00000358602	human	ensembl	70_37	-1	known	intronic	c.393+17684	e1+17684	0.004	-	-	-	no_errors	ANKRD17	HGNC	ENSG00000132466	tier4	806	0	0	1204	2	0.165837479270315	370	0	0
4	76009974	76009974	G	A	SNP	ENSG00000248165	ENST00000513770	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49940	NULL	0.031	-	-	-	no_errors	RP11-44F21.2	Clone_based_vega_gene	ENSG00000248165	tier3	1747	0	0	1196	824	40.7920792079208	615	139	18.4350132625995
4	76903065	76903065	T	A	SNP	SDAD1	ENST00000356260	human	ensembl	70_37	-1	known	intronic	c.195+21	e2+21	0.060	-	-	-	no_errors	SDAD1	HGNC	ENSG00000198301	tier3	1367	0	0	1125	976	46.4319695528069	537	117	17.8899082568807
4	76903066	76903066	T	A	SNP	SDAD1	ENST00000356260	human	ensembl	70_37	-1	known	intronic	c.195+20	e2+20	0.046	-	-	-	no_errors	SDAD1	HGNC	ENSG00000198301	tier3	1351	0	0	1123	978	46.5492622560685	531	113	17.5465838509317
4	77625152	77625152	G	C	SNP	SHROOM3	ENST00000296043	human	ensembl	70_37	+1	known	intronic	c.324-6157	e3-6157	0.004	-	-	-	no_errors	SHROOM3	HGNC	ENSG00000138771	tier3	876	0	0	1250	2	0.159744408945687	438	4	0.900900900900901
4	77679685	77679685	G	T	SNP	SHROOM3	ENST00000296043	human	ensembl	70_37	+1	known	intronic	c.5199-1013	e9-1013	0.000	-	-	-	no_errors	SHROOM3	HGNC	ENSG00000138771	tier3	825	0	0	1120	4	0.355555555555556	443	0	0
4	78472651	78472651	C	T	SNP	CXCL13	ENST00000286758	human	ensembl	70_37	+1	known	intronic	c.1+39709	e0+39709	0.213	-	-	-	no_errors	CXCL13	HGNC	ENSG00000156234	tier4	545	0	0	552	251	31.2577833125778	287	0	0
4	78929740	78929740	G	T	SNP	ENSG00000249072	ENST00000510231	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-78929740	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-777B9.5	Clone_based_vega_gene	ENSG00000249072	tier3	477	0	0	714	2	0.279329608938547	319	5	1.54320987654321
4	79589661	79589661	A	C	SNP	LOC100505702	ENST00000503539	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-792D21.2	Clone_based_vega_gene	ENSG00000251442	tier3	496	0	0	792	2	0.251889168765743	269	1	0.37037037037037
4	80717893	80717893	C	G	SNP	GDEP	ENST00000504263	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30732	NULL	0.000	-	-	-	no_errors	GDEP	Clone_based_vega_gene	ENSG00000251321	tier3	1202	0	0	858	630	42.3387096774194	482	109	18.3193277310924
4	80780824	80780824	T	C	SNP	GDEP	ENST00000504263	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	GDEP	Clone_based_vega_gene	ENSG00000251321	tier3	757	0	0	1070	2	0.186567164179104	332	2	0.595238095238095
4	81034832	81034832	A	G	SNP	ANTXR2	ENST00000506286	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	ANTXR2	HGNC	ENSG00000163297	tier4	722	0	0	1090	2	0.183150183150183	315	1	0.316455696202532
4	81347672	81347672	C	G	SNP	C4orf22	ENST00000508675	human	ensembl	70_37	+1	known	intronic	c.242+63634	e2+63634	0.000	-	-	-	no_errors	C4orf22	HGNC	ENSG00000197826	tier3	803	0	0	545	528	49.1162790697674	361	81	18.2844243792325
4	83093196	83093196	G	A	SNP	ENSG00000202485	ENST00000365615	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-2504	NULL	0.066	-	-	-	no_errors	U6	RFAM	ENSG00000202485	tier4	389	0	0	553	2	0.359066427289048	249	4	1.58102766798419
4	84209293	84209293	G	T	SNP	COQ2	ENST00000311469	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3226	NULL	0.051	-	-	-	no_errors	COQ2	HGNC	ENSG00000173085	tier4	1640	2	0.121728545343883	1401	1328	48.6625137412972	468	137	22.6446280991736
4	85197391	85197391	T	C	SNP	ENSG00000250546	ENST00000508406	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.998	-	-	-	no_errors	RP11-8L2.1	Clone_based_vega_gene	ENSG00000250546	tier2	606	0	0	785	2	0.254129606099111	285	1	0.344827586206897
4	85533554	85533554	T	G	SNP	CDS1	ENST00000295887	human	ensembl	70_37	+1	known	intronic	c.342+2876	e3+2876	0.000	-	-	-	no_errors	CDS1	HGNC	ENSG00000163624	tier3	1377	0	0	2067	3	0.144927536231884	562	0	0
4	85884598	85884598	T	A	SNP	WDFY3	ENST00000295888	human	ensembl	70_37	-1	known	intronic	c.1+2764	e0+2764	0.000	-	-	-	no_errors	WDFY3	HGNC	ENSG00000163625	tier4	2497	0	0	3823	5	0.129971406290616	749	0	0
4	86221445	86221445	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	776	2	0.25706940874036	561	420	42.8134556574924	316	52	14.1304347826087
4	86555373	86555373	C	A	SNP	ARHGAP24	ENST00000395184	human	ensembl	70_37	+1	known	intronic	c.180+63499	e1+63499	0.791	-	-	-	no_errors	ARHGAP24	HGNC	ENSG00000138639	tier3	1112	0	0	1001	470	31.9510537049626	548	4	0.72463768115942
4	86746570	86746570	C	A	SNP	ARHGAP24	ENST00000395184	human	ensembl	70_37	+1	known	intronic	c.269-98231	e3-98231	0.000	-	-	-	no_errors	ARHGAP24	HGNC	ENSG00000138639	tier3	1459	0	0	1884	2	0.106044538706257	672	2	0.29585798816568
4	86901335	86901335	G	T	SNP	ARHGAP24	ENST00000395184	human	ensembl	70_37	+1	known	intronic	c.928+2491	e7+2491	0.080	-	-	-	no_errors	ARHGAP24	HGNC	ENSG00000138639	tier4	807	0	0	1025	3	0.291545189504373	417	7	1.65094339622642
4	88749860	88749860	A	C	SNP	MEPE	ENST00000424957	human	ensembl	70_37	+1	known	intronic	c.1-5995	e1-5995	0.001	-	-	-	no_errors	MEPE	HGNC	ENSG00000152595	tier3	837	0	0	1197	2	0.166666666666667	490	0	0
4	88801724	88801724	A	C	SNP	HSP90AB3P	ENST00000505987	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11271	NULL	0.995	-	-	-	no_coding_region:pseudogene	HSP90AB3P	HGNC	ENSG00000183199	tier4	892	0	0	1210	4	0.328947368421053	411	1	0.242718446601942
4	92017249	92017249	G	T	SNP	FAM190A	ENST00000333691	human	ensembl	70_37	+1	known	intronic	c.2217+10104	e9+10104	0.115	-	-	-	no_errors	FAM190A	HGNC	ENSG00000184305	tier4	618	0	0	478	244	33.7950138504155	387	4	1.0230179028133
4	94202817	94202817	G	A	SNP	GRID2	ENST00000282020	human	ensembl	70_37	+1	known	intronic	c.1245+43176	e8+43176	0.000	-	-	-	no_errors	GRID2	HGNC	ENSG00000152208	tier3	1946	2	0.102616726526424	1724	757	30.450522928399	901	2	0.220507166482911
4	94266173	94266173	T	G	SNP	GRID2	ENST00000282020	human	ensembl	70_37	+1	known	intronic	c.1246-50585	e9-50585	0.791	-	-	-	no_errors	GRID2	HGNC	ENSG00000152208	tier4	2089	0	0	2782	8	0.28673835125448	734	2	0.271739130434783
4	94282215	94282215	C	T	SNP	GRID2	ENST00000282020	human	ensembl	70_37	+1	known	intronic	c.1246-34543	e9-34543	0.002	-	-	-	no_errors	GRID2	HGNC	ENSG00000152208	tier3	1056	0	0	1420	2	0.140646976090014	551	0	0
4	94962990	94962990	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	421	0	0	583	2	0.341296928327645	263	1	0.374531835205993
4	97171899	97171899	C	T	SNP	ENSG00000250655	ENST00000515870	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*37648	NULL	0.112	-	-	-	no_coding_region:pseudogene	RP11-61G24.1	Clone_based_vega_gene	ENSG00000250655	tier4	607	0	0	805	3	0.371287128712871	307	3	0.967741935483871
4	97469285	97469285	G	A	SNP	ENSG00000248510	ENST00000522173	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.405	-	-	-	no_errors	RP11-145G20.1	Clone_based_vega_gene	ENSG00000248510	tier4	2501	0	0	3622	2	0.0551571980143409	717	0	0
4	98338559	98338559	G	A	SNP	STPG2	ENST00000506482	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	STPG2	HGNC	ENSG00000163116	tier3	1635	0	0	2062	2	0.0968523002421308	717	0	0
4	98411370	98411370	A	C	SNP	STPG2	ENST00000506482	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	STPG2	HGNC	ENSG00000163116	tier4	1574	0	0	2034	2	0.0981836033382425	684	0	0
4	99033287	99033287	A	G	SNP	STPG2	ENST00000295268	human	ensembl	70_37	-1	known	intronic	c.388-2831	e4-2831	0.018	-	-	-	no_errors	STPG2	HGNC	ENSG00000163116	tier4	656	0	0	463	421	47.6244343891403	330	62	15.8163265306122
4	101251535	101251535	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	914	0	0	1242	2	0.160771704180064	376	2	0.529100529100529
4	101381122	101381122	T	A	SNP	EMCN	ENST00000296420	human	ensembl	70_37	-1	known	intronic	c.376+5458	e4+5458	0.043	-	-	-	no_errors	EMCN	HGNC	ENSG00000164035	tier4	1521	0	0	1067	999	48.3309143686502	506	140	21.671826625387
4	103556890	103556890	T	G	SNP	MANBA	ENST00000226578	human	ensembl	70_37	-1	known	intronic	c.2157+132	e15+132	0.000	-	-	-	no_errors	MANBA	HGNC	ENSG00000109323	tier4	1362	0	0	2006	3	0.149253731343284	482	1	0.20703933747412
4	104010399	104010399	A	G	SNP	BDH2	ENST00000296424	human	ensembl	70_37	-1	known	intronic	c.357+1935	e4+1935	0.000	-	-	-	no_errors	BDH2	HGNC	ENSG00000164039	tier4	839	0	0	1225	2	0.162999185004075	439	3	0.678733031674208
4	104169706	104169706	C	G	SNP	ENSG00000248740	ENST00000513793	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-7610	NULL	0.000	-	-	-	no_errors	RP11-328K4.1	Clone_based_vega_gene	ENSG00000248740	tier4	958	0	0	682	538	44.0622440622441	438	76	14.7286821705426
4	104426855	104426855	A	C	SNP	ENSG00000251577	ENST00000502936	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-43047	NULL	0.001	-	-	-	no_errors	RP11-297P16.3	Clone_based_vega_gene	ENSG00000251577	tier4	349	0	0	505	2	0.394477317554241	168	0	0
4	104883073	104883073	G	T	SNP	ENSG00000249614	ENST00000510505	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.061	-	-	-	no_errors	RP11-703G6.1	Clone_based_vega_gene	ENSG00000249614	tier4	1214	3	0.246305418719212	1607	11	0.679431747992588	531	13	2.38970588235294
4	108465222	108465222	C	A	SNP	PAPSS1	ENST00000514815	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*46211	NULL	0.000	-	-	-	no_errors	PAPSS1	HGNC	ENSG00000138801	tier3	667	0	0	944	6	0.630914826498423	341	0	0
4	108713690	108713690	G	T	SNP	SGMS2	ENST00000394684	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-103020	NULL	0.000	-	-	-	no_errors	SGMS2	HGNC	ENSG00000164023	tier3	1023	1	0.0975609756097561	782	591	43.0444282592862	505	90	15.1260504201681
4	109636966	109636966	T	G	SNP	AGXT2L1	ENST00000296486	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*26674	NULL	0.000	-	-	-	no_errors	AGXT2L1	HGNC	ENSG00000164089	tier3	1571	0	0	2306	2	0.086617583369424	622	1	0.160513643659711
4	109777188	109777188	G	T	SNP	COL25A1	ENST00000399132	human	ensembl	70_37	-1	known	intronic	c.1321-3107	e24-3107	0.000	-	-	-	no_errors	COL25A1	HGNC	ENSG00000188517	tier3	1228	0	0	1799	2	0.110864745011086	671	4	0.592592592592593
4	110787253	110787253	G	A	SNP	LRIT3	ENST00000594814	human	ensembl	70_37	+1	known	intronic	c.590-1544	e3-1544	0.012	-	-	-	no_errors	LRIT3	HGNC	ENSG00000183423	tier3	1016	0	0	1518	5	0.328299409061064	500	0	0
4	111068436	111068436	A	T	SNP	ELOVL6	ENST00000394607	human	ensembl	70_37	-1	known	intronic	c.90-41652	e2-41652	0.346	-	-	-	no_errors	ELOVL6	HGNC	ENSG00000170522	tier4	494	0	0	669	4	0.592592592592593	316	2	0.628930817610063
4	112984006	112984006	C	G	SNP	ENSG00000249815	ENST00000511219	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.008	-	-	-	no_errors	RP11-269F21.3	Clone_based_vega_gene	ENSG00000249815	tier4	842	0	0	1266	2	0.1573564122738	502	1	0.198807157057654
4	113788278	113788278	C	T	SNP	ANK2	ENST00000506722	human	ensembl	70_37	+1	known	intronic	c.1-37333	e1-37333	0.001	-	-	-	no_errors	ANK2	HGNC	ENSG00000145362	tier4	985	0	0	1348	3	0.22189349112426	494	0	0
4	115296328	115296328	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	875	0	0	1090	2	0.182982616651418	472	0	0
4	115733512	115733512	C	G	SNP	NDST4	ENST00000264363	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*15460	NULL	0.000	-	-	-	no_errors	NDST4	HGNC	ENSG00000138653	tier3	986	0	0	1328	2	0.15015015015015	467	3	0.635593220338983
4	117260361	117260361	C	T	SNP	ENSG00000248173	ENST00000508414	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42045	NULL	0.127	-	-	-	no_errors	RP11-659O3.1	Clone_based_vega_gene	ENSG00000248173	tier4	1112	0	0	1484	2	0.134589502018843	626	0	0
4	117809893	117809893	G	C	SNP	ENSG00000201752	ENST00000364882	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*49352	NULL	0.024	-	-	-	no_errors	U6	RFAM	ENSG00000201752	tier3	850	1	0.117233294255569	536	563	51.1353315168029	300	96	24
4	118879278	118879278	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1751	0	0	2285	2	0.0874508089199825	710	0	0
4	119257916	119257916	C	T	SNP	PRSS12	ENST00000296498	human	ensembl	70_37	-1	known	intronic	c.642-1110	e3-1110	0.000	-	-	-	no_errors	PRSS12	HGNC	ENSG00000164099	tier3	1470	1	0.0679347826086957	1164	970	45.4332552693208	585	108	15.4949784791966
4	119681590	119681590	A	T	SNP	SEC24D	ENST00000505134	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.025	-	-	-	no_errors	SEC24D	HGNC	ENSG00000150961	tier1	1689	0	0	2580	3	0.11605415860735	640	0	0
4	122038886	122038886	T	G	SNP	NDNF	ENST00000379692	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-71894	NULL	0.001	-	-	-	no_errors	NDNF	HGNC	ENSG00000173376	tier4	272	0	0	358	4	1.10497237569061	49	2	3.92156862745098
4	122045076	122045076	T	C	SNP	TNIP3	ENST00000057513	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*8710	NULL	0.051	-	-	-	no_errors	TNIP3	HGNC	ENSG00000050730	tier3	1201	0	0	1666	2	0.119904076738609	530	2	0.37593984962406
4	124593278	124593278	A	G	SNP	LOC285419	ENST00000508111	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-93L9.1	Clone_based_vega_gene	ENSG00000249464	tier3	1028	0	0	1535	4	0.25974025974026	319	2	0.623052959501558
4	124815958	124815958	G	C	SNP	LOC285419	ENST00000508111	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	RP11-93L9.1	Clone_based_vega_gene	ENSG00000249464	tier4	1282	0	0	1796	2	0.111111111111111	357	0	0
4	125655503	125655503	G	A	SNP	ANKRD50	ENST00000504087	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-23837	NULL	0.005	-	-	-	no_errors	ANKRD50	HGNC	ENSG00000151458	tier3	1349	0	0	962	725	42.9502369668246	438	84	16.030534351145
4	125695027	125695027	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1116	0	0	1240	57	4.39475713184271	667	0	0
4	127651807	127651807	T	A	SNP	ENSG00000249178	ENST00000515428	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-123G5.1	Clone_based_vega_gene	ENSG00000249178	tier3	728	0	0	919	2	0.217155266015201	500	0	0
4	129678343	129678343	G	C	SNP	ENSG00000238802	ENST00000459599	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*1059	NULL	0.000	-	-	-	no_errors	snoU13	RFAM	ENSG00000238802	tier4	1290	0	0	1985	1	0.0502765208647562	382	3	0.767263427109974
4	130166754	130166754	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1456	0	0	2110	4	0.189214758751183	599	1	0.166666666666667
4	130479285	130479285	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	944	0	0	1414	2	0.141242937853107	444	3	0.671140939597315
4	130724689	130724689	G	C	SNP	ENSG00000249618	ENST00000513875	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-422J15.1	Clone_based_vega_gene	ENSG00000249618	tier3	722	0	0	927	3	0.321543408360129	395	0	0
4	132089995	132089995	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	633	0	0	839	2	0.237529691211401	268	3	1.1070110701107
4	132110148	132110148	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1429	0	0	1958	6	0.305498981670061	691	0	0
4	132155147	132155147	A	C	SNP	ENSG00000206782	ENST00000384055	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-39250	NULL	0.004	-	-	-	no_errors	U6	RFAM	ENSG00000206782	tier4	244	0	0	298	5	1.65016501650165	155	1	0.632911392405063
4	132374958	132374958	A	G	SNP	ENSG00000250102	ENST00000500169	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-314N14.1	Clone_based_vega_gene	ENSG00000250102	tier3	703	0	0	470	344	42.2604422604423	344	58	14.4278606965174
4	132595149	132595149	T	A	SNP	ENSG00000241392	ENST00000490174	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*46268	NULL	0.001	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000241392	tier3	605	0	0	847	4	0.470035252643948	375	0	0
4	133063316	133063316	C	A	SNP	ENSG00000251598	ENST00000420721	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-18130	NULL	0.122	-	-	-	no_errors	RP11-789C2.1	Clone_based_vega_gene	ENSG00000251598	tier4	1023	1	0.0974658869395711	1288	1	0.0775193798449612	497	65	11.4840989399293
4	133330336	133330336	G	T	SNP	ELL2P2	ENST00000515135	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40702	NULL	0.004	-	-	-	no_coding_region:pseudogene	ELL2P2	HGNC	ENSG00000251051	tier4	1299	0	0	862	682	44.1138421733506	468	103	18.006993006993
4	133999373	133999373	T	G	SNP	ENSG00000250241	ENST00000506897	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-9G1.3	Clone_based_vega_gene	ENSG00000250241	tier4	1336	0	0	1703	2	0.117302052785924	557	6	1.06382978723404
4	134203482	134203482	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	860	0	0	1171	1	0.0853242320819113	379	3	0.78125
4	135069910	135069910	T	C	SNP	PABPC4L	ENST00000529122	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*51152	NULL	0.000	-	-	-	no_errors	PABPC4L	HGNC	ENSG00000254535	tier3	1158	0	0	1702	2	0.117370892018779	456	4	0.865800865800866
4	135106042	135106042	A	G	SNP	PABPC4L	ENST00000529122	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*15020	NULL	0.362	-	-	-	no_errors	PABPC4L	HGNC	ENSG00000254535	tier4	1357	1	0.0736377025036819	906	784	46.3905325443787	641	145	18.4478371501272
4	135345681	135345681	C	A	SNP	ENSG00000251291	ENST00000503009	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-400D2.3	Clone_based_vega_gene	ENSG00000251291	tier3	643	0	0	968	2	0.206185567010309	270	3	1.08303249097473
4	135643703	135643703	C	G	SNP	ENSG00000249000	ENST00000504882	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36851	NULL	0.000	-	-	-	no_errors	CTD-2012I17.1	Clone_based_vega_gene	ENSG00000249000	tier4	1274	0	0	1510	164	9.78520286396181	605	0	0
4	135988397	135988397	G	T	SNP	ENSG00000248434	ENST00000508605	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	RP11-553P9.2	Clone_based_vega_gene	ENSG00000248434	tier1	775	0	0	1035	3	0.289017341040462	410	6	1.43884892086331
4	136830258	136830258	C	T	SNP	LINC00613	ENST00000508714	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.081	-	-	-	no_errors	LINC00613	HGNC	ENSG00000248330	tier4	1032	0	0	738	643	46.5267727930535	362	91	20.0883002207506
4	138676424	138676424	C	T	SNP	ENSG00000250777	ENST00000510922	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-20293	NULL	0.051	-	-	-	no_errors	RP13-884E18.4	Clone_based_vega_gene	ENSG00000250777	tier3	987	0	0	1273	2	0.156739811912226	482	2	0.412371134020619
4	139498318	139498318	A	G	SNP	ENSG00000248795	ENST00000502915	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15223	NULL	0.006	-	-	-	no_coding_region:pseudogene	RP11-173E2.1	Clone_based_vega_gene	ENSG00000248795	tier4	1234	1	0.0809716599190283	887	702	44.1509433962264	444	112	20.1438848920863
4	142850410	142850410	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1034	0	0	1265	3	0.236406619385343	443	1	0.225225225225225
4	142948749	142948749	C	A	SNP	INPP4B	ENST00000513000	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*1186	NULL	0.000	-	-	-	no_errors	INPP4B	HGNC	ENSG00000109452	tier3	549	0	0	724	2	0.274725274725275	271	0	0
4	143241081	143241081	A	G	SNP	INPP4B	ENST00000509777	human	ensembl	70_37	-1	known	intronic	c.373-5166	e5-5166	0.001	-	-	-	no_errors	INPP4B	HGNC	ENSG00000109452	tier4	573	0	0	702	4	0.56657223796034	290	0	0
4	143256989	143256989	A	G	SNP	INPP4B	ENST00000509777	human	ensembl	70_37	-1	known	intronic	c.373-21074	e5-21074	0.002	-	-	-	no_errors	INPP4B	HGNC	ENSG00000109452	tier4	552	0	0	761	2	0.262123197903014	290	0	0
4	143472121	143472121	T	G	SNP	INPP4B	ENST00000509777	human	ensembl	70_37	-1	known	intronic	c.1-88242	e1-88242	0.002	-	-	-	no_errors	INPP4B	HGNC	ENSG00000109452	tier4	1242	0	0	1639	2	0.12187690432663	491	0	0
4	144984814	144984814	T	G	SNP	GYPB	ENST00000283126	human	ensembl	70_37	-1	known	intronic	c.38-62378	e2-62378	0.116	-	-	-	no_errors	GYPB	HGNC	ENSG00000250361	tier4	1902	0	0	2646	2	0.0754716981132075	638	0	0
4	145075860	145075860	A	T	SNP	GYPA	ENST00000360771	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14072	NULL	0.458	-	-	-	no_errors	GYPA	HGNC	ENSG00000170180	tier4	951	0	0	1199	4	0.332502078137988	401	1	0.248756218905473
4	145811111	145811111	T	C	SNP	ENSG00000250406	ENST00000512833	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15172	NULL	0.004	-	-	-	no_errors	RP13-539F13.3	Clone_based_vega_gene	ENSG00000250406	tier4	1271	0	0	1814	1	0.0550660792951542	593	2	0.336134453781513
4	147602108	147602108	G	A	SNP	TTC29	ENST00000398886	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*26202	NULL	0.111	-	-	-	no_errors	TTC29	HGNC	ENSG00000137473	tier4	918	1	0.108813928182807	755	487	39.2109500805153	370	88	19.047619047619
4	148299392	148299392	G	A	SNP	MIR548G	ENST00000408442	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33523	NULL	0.000	-	-	-	no_errors	MIR548G	HGNC	ENSG00000221369	tier3	1649	2	0.121065375302663	1044	921	46.8702290076336	579	129	18.2203389830508
4	149594720	149594720	C	T	SNP	ENSG00000250357	ENST00000504874	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-19464	NULL	0.000	-	-	-	no_errors	RP11-503L19.1	Clone_based_vega_gene	ENSG00000250357	tier4	347	0	0	252	154	37.9310344827586	181	35	16.2037037037037
4	149837609	149837609	G	A	SNP	ENSG00000249317	ENST00000504394	human	ensembl	70_37	-1	putative	3_prime_flanking_region	c.*24484	NULL	0.000	-	-	-	no_errors	CTB-191D16.1	Clone_based_vega_gene	ENSG00000249317	tier4	1136	1	0.0878734622144112	744	611	45.0922509225092	418	100	19.0114068441065
4	150350608	150350608	C	A	SNP	ENSG00000234828	ENST00000506683	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-526A4.1	Clone_based_vega_gene	ENSG00000234828	tier3	792	0	0	1067	3	0.280373831775701	402	5	1.22850122850123
4	151481477	151481477	C	A	SNP	LRBA	ENST00000357115	human	ensembl	70_37	-1	known	intronic	c.6363+27723	e40+27723	0.005	-	-	-	no_errors	LRBA	HGNC	ENSG00000198589	tier3	1107	0	0	1469	2	0.135961930659415	418	3	0.709219858156028
4	152668211	152668211	T	G	SNP	PET112	ENST00000263985	human	ensembl	70_37	-1	known	intronic	c.327+11713	e2+11713	0.000	-	-	-	no_errors	PET112	HGNC	ENSG00000059691	tier4	896	0	0	1255	2	0.159108989657916	387	0	0
4	152707205	152707205	T	C	SNP	PET112	ENST00000263985	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25071	NULL	0.669	-	-	-	no_errors	PET112	HGNC	ENSG00000059691	tier4	1286	0	0	1720	4	0.232018561484919	560	4	0.709219858156028
4	153323780	153323780	A	C	SNP	FBXW7	ENST00000281708	human	ensembl	70_37	-1	known	intronic	c.501+8675	e1+8675	0.002	-	-	-	no_errors	FBXW7	HGNC	ENSG00000109670	tier4	1143	0	0	1442	2	0.138504155124654	619	1	0.161290322580645
4	153371926	153371926	T	C	SNP	FBXW7	ENST00000281708	human	ensembl	70_37	-1	known	intronic	c.1-38902	e1-38902	0.001	-	-	-	no_errors	FBXW7	HGNC	ENSG00000109670	tier3	975	0	0	1365	2	0.146198830409357	398	0	0
4	153436887	153436887	A	G	SNP	FBXW7	ENST00000281708	human	ensembl	70_37	-1	known	intronic	c.1+19206	e0+19206	0.002	-	-	-	no_errors	FBXW7	HGNC	ENSG00000109670	tier4	913	0	0	1353	4	0.294767870302137	374	1	0.266666666666667
4	154317237	154317237	T	C	SNP	MND1	ENST00000240488	human	ensembl	70_37	+1	known	intronic	c.352-1134	e6-1134	0.010	-	-	-	no_errors	MND1	HGNC	ENSG00000121211	tier3	1108	0	0	815	713	46.6623036649215	466	104	18.2456140350877
4	154964971	154964971	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	930	0	0	1137	143	11.171875	516	0	0
4	155239539	155239539	A	G	SNP	DCHS2	ENST00000357232	human	ensembl	70_37	-1	known	intronic	c.3655+1992	e14+1992	0.001	-	-	-	no_errors	DCHS2	HGNC	ENSG00000197410	tier4	1029	0	0	1373	4	0.290486564996369	420	2	0.4739336492891
4	155534303	155534303	A	G	SNP	FGA	ENST00000302053	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22464	NULL	0.013	-	-	-	no_errors	FGA	HGNC	ENSG00000171560	tier3	1120	0	0	1539	2	0.129785853341986	502	1	0.198807157057654
4	155738294	155738294	T	A	SNP	RBM46	ENST00000281722	human	ensembl	70_37	+1	known	intronic	c.1403-10726	e4-10726	0.011	-	-	-	no_errors	RBM46	HGNC	ENSG00000151962	tier4	1248	0	0	779	659	45.8275382475661	428	115	21.1786372007366
4	156779843	156779843	C	A	SNP	ASIC5	ENST00000537611	human	ensembl	70_37	-1	known	intronic	c.348-4377	e3-4377	0.008	-	-	-	no_errors	ASIC5	HGNC	ENSG00000256394	tier4	1120	0	0	1612	2	0.123915737298637	533	0	0
4	157196436	157196436	A	C	SNP	ENSG00000221189	ENST00000408262	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*21277	NULL	0.097	-	-	-	no_errors	AC108211.1	Clone_based_ensembl_gene	ENSG00000221189	tier4	1521	0	0	2098	2	0.0951927653498334	514	0	0
4	158336183	158336183	T	C	SNP	GRIA2	ENST00000296526	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*51987	NULL	0.000	-	-	-	no_errors	GRIA2	HGNC	ENSG00000120251	tier4	522	0	0	654	1	0.152671755725191	259	2	0.766283524904215
4	159543869	159543869	A	G	SNP	RXFP1	ENST00000307765	human	ensembl	70_37	+1	known	intronic	c.756-4103	e10-4103	0.000	-	-	-	no_errors	RXFP1	HGNC	ENSG00000171509	tier4	1015	0	0	1549	3	0.193298969072165	463	5	1.06837606837607
4	160495500	160495500	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1568	1	0.0637348629700446	1292	1016	44.0207972270364	655	138	17.3149309912171
4	160774232	160774232	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	708	0	0	1001	2	0.199401794616152	301	0	0
4	161134737	161134737	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	761	1	0.131233595800525	729	358	32.9346826126955	460	0	0
4	161467015	161467015	G	A	SNP	ENSG00000249425	ENST00000512652	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.142	-	-	-	no_errors	RP11-502M1.2	Clone_based_vega_gene	ENSG00000249425	tier4	668	0	0	496	478	49.025641025641	260	77	22.7138643067847
4	162298826	162298826	G	A	SNP	ENSG00000249568	ENST00000508189	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1279	NULL	0.585	-	-	-	no_errors	RP11-234O6.2	Clone_based_vega_gene	ENSG00000249568	tier4	1485	0	0	1085	836	43.4963579604579	555	168	23.1086657496561
4	164434579	164434579	T	G	SNP	TMA16	ENST00000358572	human	ensembl	70_37	+1	known	intronic	c.154+568	e3+568	0.001	-	-	-	no_errors	TMA16	HGNC	ENSG00000198498	tier3	1385	0	0	2127	2	0.093764650726676	658	0	0
4	166827625	166827625	G	T	SNP	TLL1	ENST00000061240	human	ensembl	70_37	+1	known	intronic	c.169+32400	e1+32400	0.081	-	-	-	no_errors	TLL1	HGNC	ENSG00000038295	tier4	1122	0	0	1461	2	0.136518771331058	516	7	1.33843212237094
4	167044177	167044177	G	A	SNP	TLL1	ENST00000061240	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*22149	NULL	0.000	-	-	-	no_errors	TLL1	HGNC	ENSG00000038295	tier3	893	0	0	622	463	42.633517495396	332	89	21.0401891252955
4	168233045	168233045	A	G	SNP	ENSG00000250150	ENST00000509096	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3105	NULL	0.356	-	-	-	no_errors	RP11-436A7.1	Clone_based_vega_gene	ENSG00000250150	tier4	1459	0	0	1021	835	44.9649973074852	560	155	21.6783216783217
4	168855622	168855622	G	A	SNP	ENSG00000248601	ENST00000506926	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*12203	NULL	0.004	-	-	-	no_errors	RP11-310I9.1	Clone_based_vega_gene	ENSG00000248601	tier4	563	0	0	340	262	43.4494195688226	264	65	19.7568389057751
4	170511984	170511984	C	A	SNP	NEK1	ENST00000507142	human	ensembl	70_37	-1	known	intronic	c.313-24	e4-24	0.047	-	-	-	no_errors	NEK1	HGNC	ENSG00000137601	tier3	904	0	0	1448	3	0.206753962784287	537	6	1.10091743119266
4	170695612	170695612	T	G	SNP	C4orf27	ENST00000393381	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-16584	NULL	0.001	-	-	-	no_errors	C4orf27	HGNC	ENSG00000056050	tier4	1090	0	0	1630	2	0.122549019607843	556	0	0
4	171030739	171030739	T	G	SNP	AADAT	ENST00000509167	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-19898	NULL	0.000	-	-	-	no_errors	AADAT	HGNC	ENSG00000109576	tier3	2179	0	0	3184	2	0.0627746390458255	980	0	0
4	171371401	171371401	T	C	SNP	ENSG00000250082	ENST00000511259	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*31445	NULL	0.051	-	-	-	no_coding_region:pseudogene	RP11-796L2.1	Clone_based_vega_gene	ENSG00000250082	tier4	900	0	0	1330	2	0.15015015015015	452	0	0
4	171432581	171432581	T	C	SNP	ENSG00000250082	ENST00000511259	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-29235	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-796L2.1	Clone_based_vega_gene	ENSG00000250082	tier3	972	0	0	705	465	39.7435897435897	417	85	16.9322709163347
4	171878809	171878809	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1445	0	0	1018	761	42.7768409218662	465	106	18.5639229422067
4	172505397	172505397	T	G	SNP	ENSG00000251176	ENST00000399152	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-19979	NULL	0.004	-	-	-	no_errors	RP11-97E7.1	Clone_based_vega_gene	ENSG00000251176	tier4	859	0	0	1148	3	0.260642919200695	366	1	0.272479564032698
4	173669758	173669758	T	G	SNP	GALNTL6	ENST00000506823	human	ensembl	70_37	+1	known	intronic	c.554-60754	e5-60754	0.069	-	-	-	no_errors	GALNTL6	HGNC	ENSG00000174473	tier4	1654	0	0	2336	2	0.0855431993156544	603	0	0
4	173990117	173990117	T	G	SNP	GALNTL6	ENST00000506823	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*28866	NULL	0.615	-	-	-	no_errors	GALNTL6	HGNC	ENSG00000174473	tier4	637	0	0	970	2	0.205549845837616	314	1	0.315457413249211
4	174250665	174250665	T	G	SNP	ENSG00000248774	ENST00000507803	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.012	-	-	-	no_errors	RP11-798M19.3	Clone_based_vega_gene	ENSG00000248774	tier3	973	0	0	1337	2	0.149365197908887	428	0	0
4	174932543	174932543	G	A	SNP	ENSG00000251216	ENST00000511291	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-20541	NULL	0.000	-	-	-	no_errors	RP11-161D15.3	Clone_based_vega_gene	ENSG00000251216	tier3	1081	0	0	964	464	32.4702589223233	573	0	0
4	175755099	175755099	A	T	SNP	ADAM29	ENST00000507652	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	ADAM29	HGNC	ENSG00000168594	tier4	2835	0	0	4001	2	0.0499375780274657	857	2	0.232828870779977
4	176171698	176171698	A	C	SNP	ENSG00000249284	ENST00000510748	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36058	NULL	0.038	-	-	-	no_coding_region:pseudogene	RP11-287F9.1	Clone_based_vega_gene	ENSG00000249284	tier4	375	0	0	474	4	0.836820083682008	172	0	0
4	176505728	176505728	A	G	SNP	GPM6A	ENST00000280187	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*50328	NULL	0.587	-	-	-	no_errors	GPM6A	HGNC	ENSG00000150625	tier4	926	2	0.21551724137931	663	571	46.2722852512156	369	82	18.1818181818182
4	176629597	176629597	C	T	SNP	GPM6A	ENST00000280187	human	ensembl	70_37	-1	known	intronic	c.38-6679	e2-6679	0.000	-	-	-	no_errors	GPM6A	HGNC	ENSG00000150625	tier4	940	1	0.106269925611052	1518	33	2.12765957446809	172	52	23.0088495575221
4	178587721	178587721	G	T	SNP	ENSG00000250131	ENST00000507023	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP11-130F10.1	Clone_based_vega_gene	ENSG00000250131	tier4	241	0	0	292	39	11.7469879518072	183	0	0
4	180353024	180353024	T	C	SNP	ENSG00000250993	ENST00000512036	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-404J23.1	Clone_based_vega_gene	ENSG00000250993	tier3	452	0	0	516	6	1.1472275334608	250	4	1.5748031496063
4	181747553	181747553	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1196	0	0	1585	3	0.188916876574307	634	0	0
4	182158849	182158849	A	G	SNP	ENSG00000248770	ENST00000503847	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-132	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-665C14.1	Clone_based_vega_gene	ENSG00000248770	tier3	1379	0	0	908	819	47.4232773595831	514	112	17.8913738019169
4	182687894	182687894	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1368	1	0.0730460189919649	988	798	44.6558477895915	519	101	16.2379421221865
4	183572042	183572042	A	T	SNP	TENM3	ENST00000406950	human	ensembl	70_37	+1	known	intronic	c.989-2882	e5-2882	0.002	-	-	-	no_errors	TENM3	HGNC	ENSG00000218336	tier4	481	9	1.83673469387755	519	136	20.763358778626	193	4	2.03045685279188
4	183711713	183711713	A	C	SNP	TENM3	ENST00000406950	human	ensembl	70_37	+1	known	intronic	c.5601+1171	e24+1171	0.000	-	-	-	no_errors	TENM3	HGNC	ENSG00000218336	tier3	434	0	0	528	3	0.564971751412429	208	0	0
4	184759764	184759764	T	G	SNP	STOX2	ENST00000511250	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-14820	NULL	0.001	-	-	-	no_errors	STOX2	HGNC	ENSG00000173320	tier3	459	0	0	715	3	0.417827298050139	252	1	0.395256916996047
4	184999207	184999207	T	G	SNP	ENPP6	ENST00000296741	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*13123	NULL	0.000	-	-	-	no_errors	ENPP6	HGNC	ENSG00000164303	tier4	1949	0	0	2707	2	0.0737735153080044	781	1	0.127877237851662
4	185430152	185430152	T	G	SNP	IRF2	ENST00000393593	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-79934	NULL	0.016	-	-	-	no_errors	IRF2	HGNC	ENSG00000168310	tier3	1067	0	0	1842	2	0.108459869848156	509	2	0.391389432485323
4	186762160	186762160	T	G	SNP	SORBS2	ENST00000284776	human	ensembl	70_37	-1	known	intronic	c.1-65640	e1-65640	0.000	-	-	-	no_errors	SORBS2	HGNC	ENSG00000154556	tier4	863	0	0	668	620	48.0993017843289	369	69	15.7175398633257
4	187251689	187251689	T	G	SNP	LOC285441	ENST00000505103	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-215A19.1	Clone_based_vega_gene	ENSG00000251165	tier4	1930	0	0	2718	2	0.0735294117647059	869	1	0.114942528735632
4	188556079	188556079	T	A	SNP	ENSG00000249642	ENST00000505488	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-565A3.1	Clone_based_vega_gene	ENSG00000249642	tier3	2135	1	0.0467726847521048	1462	1287	46.8	758	171	18.3673469387755
4	189039406	189039406	G	A	SNP	TRIML1	ENST00000332517	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21307	NULL	0.109	-	-	-	no_errors	TRIML1	HGNC	ENSG00000184108	tier4	325	0	0	254	199	43.9293598233996	148	22	12.9411764705882
4	189230812	189230812	G	A	SNP	ENSG00000242169	ENST00000494861	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*39718	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-219G10.1	Clone_based_vega_gene	ENSG00000242169	tier3	882	0	0	1212	33	2.64423076923077	507	0	0
4	190580207	190580207	A	C	SNP	ENSG00000250739	ENST00000513681	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-552	NULL	0.000	-	-	-	no_errors	RP11-462G22.1	Clone_based_vega_gene	ENSG00000250739	tier3	2477	0	0	2844	2	0.0702493853178785	1145	4	0.347523892267593
4	190595505	190595505	A	C	SNP	ENSG00000250739	ENST00000513681	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*12865	NULL	0.000	-	-	-	no_errors	RP11-462G22.1	Clone_based_vega_gene	ENSG00000250739	tier3	2441	0	0	2922	2	0.0683994528043776	1136	0	0
4	190623035	190623035	C	A	SNP	ENSG00000250739	ENST00000513681	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40395	NULL	0.006	-	-	-	no_errors	RP11-462G22.1	Clone_based_vega_gene	ENSG00000250739	tier4	2281	0	0	2893	2	0.0690846286701209	1298	4	0.306278713629403
4	190627794	190627794	C	A	SNP	ENSG00000250739	ENST00000513681	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*45154	NULL	0.000	-	-	-	no_errors	RP11-462G22.1	Clone_based_vega_gene	ENSG00000250739	tier4	1387	0	0	1767	2	0.113058224985868	810	4	0.491400491400491
4	190756863	190756863	A	C	SNP	ENSG00000245685	ENST00000508156	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.110	-	-	-	no_errors	AF146191.4	Clone_based_vega_gene	ENSG00000245685	tier4	68	0	0	110	2	1.78571428571429	63	2	3.07692307692308
4	190801206	190801206	T	G	SNP	ENSG00000245685	ENST00000508156	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.021	-	-	-	no_errors	AF146191.4	Clone_based_vega_gene	ENSG00000245685	tier3	751	0	0	876	2	0.227790432801822	339	0	0
5	297161	297161	T	G	SNP	PDCD6	ENST00000264933	human	ensembl	70_37	+1	known	intronic	c.164-7131	e3-7131	0.016	-	-	-	no_errors	PDCD6	HGNC	ENSG00000249915	tier3	230	0	0	355	3	0.837988826815642	171	0	0
5	363240	363240	T	G	SNP	AHRR	ENST00000316418	human	ensembl	70_37	+1	known	intronic	c.256+9214	e3+9214	0.001	-	-	-	no_errors	AHRR	HGNC	ENSG00000063438	tier4	513	0	0	763	4	0.521512385919166	264	1	0.377358490566038
5	1526037	1526037	G	A	SNP	LPCAT1	ENST00000283415	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2078	NULL	0.111	-	-	-	no_errors	LPCAT1	HGNC	ENSG00000153395	tier4	548	0	0	507	254	33.377135348226	279	0	0
5	1619569	1619569	A	C	SNP	ENSG00000188002	ENST00000507290	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.332	-	-	-	no_errors	RP11-43F13.1	Clone_based_vega_gene	ENSG00000188002	tier4	113	0	0	131	2	1.50375939849624	109	1	0.909090909090909
5	1780859	1780859	T	C	SNP	NDUFS6	ENST00000274137	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20673	NULL	0.018	-	-	-	no_errors	NDUFS6	HGNC	ENSG00000145494	tier4	471	0	0	589	2	0.338409475465313	238	0	0
5	2110410	2110410	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1037	0	0	1381	2	0.144613159797542	536	0	0
5	2198813	2198813	G	C	SNP	ENSG00000201026	ENST00000364156	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*13879	NULL	0.000	-	-	-	no_errors	Y_RNA	RFAM	ENSG00000201026	tier3	1538	1	0.0648929266709929	952	758	44.2240373395566	497	65	11.5658362989324
5	2395150	2395150	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	728	0	0	480	358	42.7207637231504	288	61	17.4785100286533
5	3182690	3182690	T	C	SNP	ENSG00000249808	ENST00000505396	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*1344	NULL	1.000	-	-	-	no_errors	CTD-2029E14.1	Clone_based_vega_gene	ENSG00000249808	tier2	446	0	0	601	2	0.33167495854063	184	0	0
5	3449387	3449387	A	C	SNP	LOC285577	ENST00000505443	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-121L11.1	Clone_based_vega_gene	ENSG00000248118	tier3	231	0	0	249	2	0.796812749003984	106	2	1.85185185185185
5	7852510	7852510	G	A	SNP	MTRR	ENST00000502509	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	MTRR	HGNC	ENSG00000124275	tier3	866	1	0.115340253748558	585	498	45.8986175115207	323	98	23.2779097387173
5	8007995	8007995	T	G	SNP	ENSG00000199773	ENST00000362903	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*27578	NULL	0.200	-	-	-	no_errors	U1	RFAM	ENSG00000199773	tier4	683	0	0	863	3	0.346020761245675	306	1	0.323624595469256
5	8043444	8043444	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1805	0	0	2380	4	0.167714884696017	667	1	0.149700598802395
5	9311293	9311293	G	T	SNP	SEMA5A	ENST00000382496	human	ensembl	70_37	-1	known	intronic	c.270+7191	e3+7191	0.000	-	-	-	no_errors	SEMA5A	HGNC	ENSG00000112902	tier4	1132	0	0	819	718	46.6840052015605	394	92	18.9300411522634
5	9587479	9587479	T	G	SNP	SEMA5A	ENST00000382496	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-207421	NULL	0.000	-	-	-	no_errors	SEMA5A	HGNC	ENSG00000112902	tier3	1083	0	0	1369	3	0.21849963583394	483	0	0
5	9915377	9915377	G	A	SNP	LOC285692	ENST00000511616	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11439	NULL	0.047	-	-	-	no_errors	CTD-2143L24.1	Clone_based_vega_gene	ENSG00000249781	tier3	388	0	0	287	259	47.3491773308958	195	48	19.5918367346939
5	9951721	9951721	A	C	SNP	LOC285692	ENST00000511616	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-47783	NULL	0.001	-	-	-	no_errors	CTD-2143L24.1	Clone_based_vega_gene	ENSG00000249781	tier3	570	0	0	764	4	0.520833333333333	305	3	0.974025974025974
5	10430901	10430901	G	T	SNP	MARCH6	ENST00000274140	human	ensembl	70_37	+1	known	intronic	c.2642+761	e25+761	0.000	-	-	-	no_errors	MARCH6	HGNC	ENSG00000145495	tier3	989	3	0.30241935483871	1496	9	0.598006644518272	468	12	2.5
5	11664069	11664069	C	A	SNP	CTNND2	ENST00000304623	human	ensembl	70_37	-1	known	intronic	c.174+68179	e2+68179	0.000	-	-	-	no_errors	CTNND2	HGNC	ENSG00000169862	tier3	867	0	0	1195	2	0.166944908180301	368	0	0
5	11832802	11832802	C	T	SNP	CTNND2	ENST00000304623	human	ensembl	70_37	-1	known	intronic	c.37+71127	e1+71127	0.039	-	-	-	no_errors	CTNND2	HGNC	ENSG00000169862	tier4	1633	1	0.0611995104039168	1096	1022	48.2530689329556	439	134	23.3856893542757
5	11886659	11886659	G	A	SNP	CTNND2	ENST00000304623	human	ensembl	70_37	-1	known	intronic	c.37+17270	e1+17270	0.000	-	-	-	no_errors	CTNND2	HGNC	ENSG00000169862	tier4	1474	0	0	1091	750	40.7166123778502	614	115	15.7750342935528
5	11943691	11943691	A	G	SNP	CTNND2	ENST00000304623	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39726	NULL	0.001	-	-	-	no_errors	CTNND2	HGNC	ENSG00000169862	tier4	870	0	0	1191	2	0.16750418760469	482	1	0.206611570247934
5	13095897	13095897	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1506	0	0	1072	815	43.1673728813559	511	137	21.141975308642
5	14791868	14791868	A	C	SNP	ANKH	ENST00000284268	human	ensembl	70_37	-1	known	intronic	c.97-22568	e2-22568	0.003	-	-	-	no_errors	ANKH	HGNC	ENSG00000154122	tier3	611	0	0	915	2	0.218102508178844	299	1	0.333333333333333
5	14822842	14822842	A	C	SNP	ANKH	ENST00000284268	human	ensembl	70_37	-1	known	intronic	c.96+48619	e1+48619	0.002	-	-	-	no_errors	ANKH	HGNC	ENSG00000154122	tier3	1186	0	0	1700	6	0.351699882766706	455	4	0.871459694989107
5	15069273	15069273	C	G	SNP	ENSG00000249332	ENST00000502680	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*43213	NULL	0.008	-	-	-	no_errors	RP1-251I12.1	Clone_based_vega_gene	ENSG00000249332	tier4	559	0	0	796	2	0.25062656641604	310	1	0.319488817891374
5	15745827	15745827	C	T	SNP	FBXL7	ENST00000504595	human	ensembl	70_37	+1	known	intronic	c.127+129646	e2+129646	0.000	-	-	-	no_errors	FBXL7	HGNC	ENSG00000183580	tier4	1860	1	0.0537345513164965	1140	1109	49.3108048021343	584	96	14.014598540146
5	16065742	16065742	A	T	SNP	RNA5SP178	ENST00000410380	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-32277	NULL	0.005	-	-	-	no_errors	RNA5SP178	HGNC	ENSG00000222312	tier3	1405	0	0	1738	3	0.172314761631246	598	0	0
5	16376324	16376324	A	C	SNP	ENSG00000248150	ENST00000513157	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP1-167G20.1	Clone_based_vega_gene	ENSG00000248150	tier3	1071	0	0	1394	2	0.143266475644699	469	3	0.635593220338983
5	16809396	16809396	C	A	SNP	MYO10	ENST00000513610	human	ensembl	70_37	-1	known	intronic	c.279+8722	e3+8722	0.000	-	-	-	no_errors	MYO10	HGNC	ENSG00000145555	tier3	412	0	0	346	269	43.739837398374	216	22	9.2436974789916
5	17239582	17239582	A	G	SNP	BASP1	ENST00000322611	human	ensembl	70_37	+1	known	intronic	c.1+21663	e0+21663	0.000	-	-	-	no_errors	BASP1	HGNC	ENSG00000176788	tier3	1732	3	0.172910662824207	1309	1155	46.8369829683698	725	146	16.7623421354765
5	20755289	20755289	G	T	SNP	ENSG00000251629	ENST00000502427	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.013	-	-	-	no_errors	RP11-774D14.1	Clone_based_vega_gene	ENSG00000251629	tier3	949	0	0	1255	3	0.238284352660842	489	0	0
5	21197515	21197515	C	T	SNP	ENSG00000248286	ENST00000502928	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*546	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-811J10.1	Clone_based_vega_gene	ENSG00000248286	tier3	1458	1	0.0685400959561343	986	778	44.1043083900227	482	114	19.1275167785235
5	22559708	22559708	T	G	SNP	CDH12	ENST00000382254	human	ensembl	70_37	-1	known	intronic	c.1-54235	e1-54235	0.005	-	-	-	no_errors	CDH12	HGNC	ENSG00000154162	tier3	1324	0	0	1874	25	1.31648235913639	616	109	15.0344827586207
5	23424193	23424193	C	A	SNP	ENSG00000248591	ENST00000512356	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-32384	NULL	0.027	-	-	-	no_coding_region:pseudogene	CTD-2351A8.1	Clone_based_vega_gene	ENSG00000248591	tier4	452	1	0.22075055187638	366	306	45.5357142857143	251	63	20.0636942675159
5	23986801	23986801	G	A	SNP	C5orf17	ENST00000512559	human	ensembl	70_37	+1	known	intronic	c.486+5851	e4+5851	0.002	-	-	-	no_errors	C5orf17	HGNC	ENSG00000248874	tier4	1834	0	0	1056	773	42.2404371584699	505	107	17.483660130719
5	24970094	24970094	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1100	0	0	1476	3	0.202839756592292	468	1	0.213219616204691
5	25236431	25236431	C	T	SNP	ENSG00000245662	ENST00000502100	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.082	-	-	-	no_errors	RP11-184E9.1	Clone_based_vega_gene	ENSG00000245662	tier4	1441	0	0	1043	878	45.705361790734	524	117	18.2527301092044
5	25552733	25552733	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	531	1	0.18796992481203	305	283	48.1292517006803	208	61	22.5092250922509
5	25746113	25746113	C	A	SNP	ENSG00000201016	ENST00000364146	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-44680	NULL	0.001	-	-	-	no_errors	U6	RFAM	ENSG00000201016	tier3	1292	2	0.154559505409583	1009	766	43.1063590320765	493	98	16.4705882352941
5	26701201	26701201	G	T	SNP	ENSG00000250703	ENST00000509113	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-30611	NULL	0.000	-	-	-	no_coding_region:pseudogene	CTD-2533K21.1	Clone_based_vega_gene	ENSG00000250703	tier3	1116	0	0	1470	2	0.135869565217391	506	3	0.587084148727984
5	26729145	26729145	A	G	SNP	ENSG00000251033	ENST00000506032	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	CTD-2533K21.4	Clone_based_vega_gene	ENSG00000251033	tier3	654	0	0	426	359	45.6743002544529	248	48	16.1073825503356
5	27190969	27190969	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1181	0	0	1421	2	0.140548137737175	452	4	0.87719298245614
5	28164460	28164460	G	C	SNP	ENSG00000250079	ENST00000510368	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*49006	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-560A7.1	Clone_based_vega_gene	ENSG00000250079	tier3	1687	0	0	1070	895	45.5239064089522	543	100	15.552099533437
5	28593732	28593732	C	A	SNP	ENSG00000252867	ENST00000517058	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-31032	NULL	0.002	-	-	-	no_errors	U6	RFAM	ENSG00000252867	tier4	880	0	0	700	351	33.3967649857279	503	0	0
5	28988746	28988746	A	G	SNP	SUCLG2P4	ENST00000514739	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13121	NULL	0.010	-	-	-	no_coding_region:pseudogene	SUCLG2P4	HGNC	ENSG00000249226	tier3	570	0	0	767	2	0.259403372243839	285	2	0.696864111498258
5	30306459	30306459	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1652	0	0	1128	864	43.3734939759036	643	142	18.0891719745223
5	31499853	31499853	A	G	SNP	DROSHA	ENST00000344624	human	ensembl	70_37	-1	known	intronic	c.1669-4374	e9-4374	0.000	-	-	-	no_errors	DROSHA	HGNC	ENSG00000113360	tier4	659	0	0	958	4	0.415800415800416	365	1	0.272479564032698
5	32370432	32370432	A	G	SNP	ZFR	ENST00000265069	human	ensembl	70_37	-1	known	intronic	c.2836-6051	e18-6051	0.000	-	-	-	no_errors	ZFR	HGNC	ENSG00000056097	tier4	319	0	0	456	1	0.218818380743982	137	2	1.43884892086331
5	32599762	32599762	G	A	SNP	SUB1	ENST00000265073	human	ensembl	70_37	+1	known	intronic	c.304+587	e3+587	0.004	-	-	-	no_errors	SUB1	HGNC	ENSG00000113387	tier3	1187	1	0.0839630562552477	817	565	40.8827785817656	521	103	16.5064102564103
5	34034917	34034917	C	A	SNP	C1QTNF3	ENST00000382065	human	ensembl	70_37	-1	known	intronic	c.415+835	e2+835	0.000	-	-	-	no_errors	C1QTNF3	HGNC	ENSG00000082196	tier3	1151	0	0	1624	1	0.0615006150061501	532	6	1.1070110701107
5	36439258	36439258	T	G	SNP	RNA5SP181	ENST00000410246	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46187	NULL	0.000	-	-	-	no_errors	RNA5SP181	HGNC	ENSG00000222178	tier4	784	0	0	1115	2	0.17905102954342	339	0	0
5	37420838	37420838	A	C	SNP	WDR70	ENST00000265107	human	ensembl	70_37	+1	known	intronic	c.493-17186	e6-17186	0.321	-	-	-	no_errors	WDR70	HGNC	ENSG00000082068	tier4	1255	0	0	2007	2	0.099502487562189	452	0	0
5	37825754	37825754	T	G	SNP	GDNF	ENST00000326524	human	ensembl	70_37	-1	known	intronic	c.151+8994	e1+8994	0.000	-	-	-	no_errors	GDNF	HGNC	ENSG00000168621	tier3	820	0	0	1143	2	0.174672489082969	342	0	0
5	38141127	38141127	A	C	SNP	ENSG00000250003	ENST00000513039	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.087	-	-	-	no_errors	CTD-2116N24.1	Clone_based_vega_gene	ENSG00000250003	tier3	1532	0	0	2110	2	0.0946969696969697	716	0	0
5	38299223	38299223	T	G	SNP	EGFLAM	ENST00000354891	human	ensembl	70_37	+1	known	intronic	c.98-38399	e2-38399	0.003	-	-	-	no_errors	EGFLAM	HGNC	ENSG00000164318	tier4	1220	0	0	1658	2	0.120481927710843	511	5	0.968992248062015
5	42949873	42949873	T	G	SNP	ENSG00000250711	ENST00000503606	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22853	NULL	0.002	-	-	-	no_coding_region:pseudogene	CTD-2201E18.1	Clone_based_vega_gene	ENSG00000250711	tier2	556	0	0	857	2	0.232828870779977	291	1	0.342465753424658
5	43427997	43427997	C	G	SNP	CCL28	ENST00000361115	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15579	NULL	0.016	-	-	-	no_errors	CCL28	HGNC	ENSG00000151882	tier4	1963	0	0	3153	2	0.063351282863478	579	2	0.344234079173838
5	44142327	44142327	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1347	0	0	1693	4	0.235571260306243	731	0	0
5	45339994	45339994	A	G	SNP	HCN1	ENST00000303230	human	ensembl	70_37	-1	known	intronic	c.1377+13208	e5+13208	0.005	-	-	-	no_errors	HCN1	HGNC	ENSG00000164588	tier3	1945	0	0	2586	4	0.154440154440154	687	0	0
5	45800644	45800644	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	501	0	0	380	316	45.2722063037249	258	70	21.0843373493976
5	45845124	45845124	C	T	SNP	ENSG00000250122	ENST00000510987	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45194	NULL	0.000	-	-	-	no_errors	CTD-2013M15.1	Clone_based_vega_gene	ENSG00000250122	tier3	1207	0	0	824	632	43.4065934065934	377	97	20.464135021097
5	45954458	45954458	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	969	0	0	1242	2	0.160771704180064	526	0	0
5	46093977	46093977	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	243	0	0	352	3	0.845070422535211	57	0	0
5	46094150	46094150	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1385	0	0	1765	4	0.225988700564972	761	4	0.522875816993464
5	46094157	46094157	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1383	0	0	1731	4	0.230547550432277	768	8	1.03092783505155
5	46114554	46114554	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1462	0	0	1084	843	43.6109674081738	597	127	17.4931129476584
5	46119100	46119100	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	574	0	0	662	76	10.2841677943166	392	0	0
5	46125720	46125720	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	798	1	0.125156445556946	951	145	13.2178669097539	428	0	0
5	46327017	46327017	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	71	0	0	104	3	2.80373831775701	40	0	0
5	46384189	46384189	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2155	0	0	3332	2	0.0599880023995201	994	0	0
5	49460632	49460632	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1142	0	0	1771	3	0.169109357384442	665	2	0.298953662182362
5	49472044	49472044	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	86	0	0	132	2	1.49253731343284	34	0	0
5	49901452	49901452	A	C	SNP	ENSG00000213956	ENST00000455837	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27506	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-269M20.1	Clone_based_vega_gene	ENSG00000213956	tier3	334	0	0	451	3	0.66079295154185	170	4	2.29885057471264
5	50923073	50923073	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	693	2	0.28735632183908	774	98	11.2256586483391	358	0	0
5	51811978	51811978	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1160	0	0	1458	4	0.27359781121751	467	1	0.213675213675214
5	53551081	53551081	A	G	SNP	ARL15	ENST00000504924	human	ensembl	70_37	-1	known	intronic	c.48+55181	e1+55181	0.000	-	-	-	no_errors	ARL15	HGNC	ENSG00000185305	tier3	1228	0	0	1698	4	0.234879624192601	551	3	0.541516245487365
5	53956009	53956009	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1473	0	0	1097	1019	48.1568998109641	559	118	17.3784977908689
5	55040644	55040644	T	G	SNP	DDX4	ENST00000505374	human	ensembl	70_37	+1	known	intronic	c.70-1348	e2-1348	0.001	-	-	-	no_errors	DDX4	HGNC	ENSG00000152670	tier3	1191	0	0	1698	3	0.176263219741481	571	2	0.349040139616056
5	55557869	55557869	A	C	SNP	ANKRD55	ENST00000341048	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-29129	NULL	0.000	-	-	-	no_errors	ANKRD55	HGNC	ENSG00000164512	tier3	528	0	0	698	2	0.285714285714286	241	5	2.03252032520325
5	56133030	56133030	T	C	SNP	MAP3K1	ENST00000399503	human	ensembl	70_37	+1	novel	intronic	c.483-19397	e2-19397	0.000	-	-	-	no_errors	MAP3K1	HGNC	ENSG00000095015	tier3	420	0	0	556	2	0.3584229390681	242	1	0.411522633744856
5	56133035	56133035	T	C	SNP	MAP3K1	ENST00000399503	human	ensembl	70_37	+1	novel	intronic	c.483-19392	e2-19392	0.005	-	-	-	no_errors	MAP3K1	HGNC	ENSG00000095015	tier3	429	0	0	557	1	0.17921146953405	240	2	0.826446280991736
5	56179705	56179705	G	T	SNP	MAP3K1	ENST00000399503	human	ensembl	70_37	+1	novel	intronic	c.3819+199	e15+199	0.004	-	-	-	no_errors	MAP3K1	HGNC	ENSG00000095015	tier4	367	0	0	318	267	45.6410256410256	275	68	19.7101449275362
5	58571033	58571033	T	A	SNP	PDE4D	ENST00000340635	human	ensembl	70_37	-1	known	intronic	c.456-59239	e2-59239	0.000	-	-	-	no_errors	PDE4D	HGNC	ENSG00000113448	tier3	1290	0	0	1672	2	0.1194743130227	586	1	0.170357751277683
5	59064043	59064043	C	G	SNP	PDE4D	ENST00000340635	human	ensembl	70_37	-1	known	intronic	c.455+124952	e1+124952	0.007	-	-	-	no_errors	PDE4D	HGNC	ENSG00000113448	tier3	996	1	0.100300902708124	726	543	42.789598108747	325	95	22.6190476190476
5	59064062	59064062	G	T	SNP	PDE4D	ENST00000340635	human	ensembl	70_37	-1	known	intronic	c.455+124933	e1+124933	0.011	-	-	-	no_errors	PDE4D	HGNC	ENSG00000113448	tier3	929	2	0.214592274678112	635	498	43.9541041482789	295	87	22.65625
5	59261473	59261473	T	C	SNP	PDE4D	ENST00000502484	human	ensembl	70_37	-1	known	intronic	c.272+22842	e2+22842	0.002	-	-	-	no_errors	PDE4D	HGNC	ENSG00000113448	tier3	752	0	0	1065	1	0.0937207122774133	351	2	0.56657223796034
5	59413374	59413374	T	G	SNP	PDE4D	ENST00000502484	human	ensembl	70_37	-1	known	intronic	c.42+68010	e1+68010	0.016	-	-	-	no_errors	PDE4D	HGNC	ENSG00000113448	tier2	824	0	0	1281	3	0.233644859813084	459	0	0
5	61599886	61599886	A	G	SNP	KIF2A	ENST00000407818	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2414	NULL	0.000	-	-	-	no_errors	KIF2A	HGNC	ENSG00000068796	tier4	1261	0	0	2007	3	0.149179512680259	451	2	0.441501103752759
5	61629945	61629945	A	G	SNP	KIF2A	ENST00000407818	human	ensembl	70_37	+1	known	intronic	c.65-13012	e2-13012	0.982	-	-	-	no_errors	KIF2A	HGNC	ENSG00000068796	tier3	354	0	0	457	2	0.435729847494553	209	2	0.947867298578199
5	61741275	61741275	C	T	SNP	IPO11	ENST00000409296	human	ensembl	70_37	+1	known	intronic	c.359+2365	e3+2365	0.006	-	-	-	no_errors	IPO11	HGNC	ENSG00000086200	tier3	1175	0	0	1591	4	0.250783699059561	618	2	0.321543408360129
5	62848661	62848661	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	657	0	0	857	7	0.810185185185185	381	2	0.522193211488251
5	62943683	62943683	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1732	2	0.115340253748558	1179	966	45.0139794967381	638	136	17.5257731958763
5	64360500	64360500	T	A	SNP	CWC27	ENST00000381070	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*46352	NULL	0.002	-	-	-	no_errors	CWC27	HGNC	ENSG00000153015	tier4	1904	1	0.0523286237571952	2926	6	0.204151071793127	469	6	1.25260960334029
5	64437842	64437842	G	T	SNP	ADAMTS6	ENST00000381055	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*9821	NULL	0.042	-	-	-	no_errors	ADAMTS6	HGNC	ENSG00000049192	tier4	2679	4	0.148975791433892	1884	1585	45.690400691842	863	216	20.0185356811863
5	64650202	64650202	C	A	SNP	ADAMTS6	ENST00000381055	human	ensembl	70_37	-1	known	intronic	c.1074-20290	e7-20290	0.001	-	-	-	no_errors	ADAMTS6	HGNC	ENSG00000049192	tier4	1415	0	0	1938	2	0.103039670273055	682	2	0.291545189504373
5	66489636	66489636	T	C	SNP	CD180	ENST00000256447	human	ensembl	70_37	-1	known	intronic	c.90+2744	e1+2744	0.001	-	-	-	no_errors	CD180	HGNC	ENSG00000134061	tier3	723	0	0	955	3	0.312825860271116	329	0	0
5	66492077	66492077	T	G	SNP	CD180	ENST00000256447	human	ensembl	70_37	-1	known	intronic	c.90+303	e1+303	0.000	-	-	-	no_errors	CD180	HGNC	ENSG00000134061	tier3	1231	0	0	1730	6	0.345622119815668	466	1	0.214132762312634
5	67064407	67064407	A	G	SNP	ENSG00000249364	ENST00000503106	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-434D9.1	Clone_based_vega_gene	ENSG00000249364	tier3	951	0	0	1311	3	0.228310502283105	534	0	0
5	67174097	67174097	G	C	SNP	ENSG00000250421	ENST00000510621	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-83M16.6	Clone_based_vega_gene	ENSG00000250421	tier4	664	0	0	517	286	35.6164383561644	329	71	17.75
5	67333849	67333849	C	T	SNP	ENSG00000253801	ENST00000522101	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*49140	NULL	0.000	-	-	-	no_coding_region:pseudogene	CTD-2060F24.1	Clone_based_vega_gene	ENSG00000253801	tier3	559	0	0	351	314	47.218045112782	182	46	20.1754385964912
5	69735127	69735127	T	C	SNP	GTF2H2B	ENST00000513202	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.015	-	-	-	no_errors	GTF2H2B	HGNC	ENSG00000226259	tier4	1898	0	0	3040	3	0.0985869208018403	903	1	0.110253583241455
5	71103889	71103889	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	431	0	0	549	5	0.902527075812274	257	6	2.28136882129278
5	71830074	71830074	T	A	SNP	ZNF366	ENST00000318442	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-72751	NULL	0.025	-	-	-	no_errors	ZNF366	HGNC	ENSG00000178175	tier3	1223	0	0	1657	3	0.180722891566265	591	2	0.337268128161889
5	72408766	72408766	A	G	SNP	TMEM171	ENST00000454765	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-10435	NULL	0.002	-	-	-	no_errors	TMEM171	HGNC	ENSG00000157111	tier3	1379	0	0	1983	1	0.0504032258064516	617	6	0.963081861958266
5	73037236	73037236	A	G	SNP	ARHGEF28	ENST00000545377	human	ensembl	70_37	+1	known	intronic	c.34-8426	e2-8426	0.005	-	-	-	no_errors	ARHGEF28	HGNC	ENSG00000214944	tier4	159	0	0	165	5	2.94117647058824	44	2	4.34782608695652
5	75355633	75355633	T	C	SNP	SV2C	ENST00000502798	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-71943	NULL	0.009	-	-	-	no_errors	SV2C	HGNC	ENSG00000122012	tier4	761	0	0	881	71	7.4501573976915	357	0	0
5	75605873	75605873	T	A	SNP	SV2C	ENST00000502798	human	ensembl	70_37	+1	known	intronic	c.2000+8503	e11+8503	0.171	-	-	-	no_errors	SV2C	HGNC	ENSG00000122012	tier4	1021	0	0	1443	3	0.207325501036628	572	2	0.348432055749129
5	75737396	75737396	T	G	SNP	IQGAP2	ENST00000274364	human	ensembl	70_37	+1	known	intronic	c.47-19999	e2-19999	0.000	-	-	-	no_errors	IQGAP2	HGNC	ENSG00000145703	tier3	1191	0	0	1782	2	0.112107623318386	434	6	1.36363636363636
5	75981488	75981488	A	C	SNP	IQGAP2	ENST00000274364	human	ensembl	70_37	+1	known	intronic	c.3905+1746	e30+1746	0.000	-	-	-	no_errors	IQGAP2	HGNC	ENSG00000145703	tier3	849	0	0	1347	3	0.222222222222222	426	1	0.233100233100233
5	77152219	77152219	C	T	SNP	TBCA	ENST00000522370	human	ensembl	70_37	-1	putative	intronic	c.1+12239	e0+12239	0.013	-	-	-	no_errors	TBCA	HGNC	ENSG00000171530	tier4	2456	1	0.0406669377795852	1988	1586	44.3636363636364	539	103	15.8950617283951
5	77268206	77268206	A	C	SNP	ENSG00000253572	ENST00000523413	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25958	NULL	1.000	-	-	-	no_errors	RP11-107N7.1	Clone_based_vega_gene	ENSG00000253572	tier2	944	0	0	1247	2	0.160128102481986	433	0	0
5	78325228	78325228	G	A	SNP	DMGDH	ENST00000255189	human	ensembl	70_37	-1	known	intronic	c.1814+499	e11+499	0.000	-	-	-	no_errors	DMGDH	HGNC	ENSG00000132837	tier3	869	0	0	659	557	45.7307060755337	368	98	21.0300429184549
5	79092107	79092107	T	G	SNP	CMYA5	ENST00000446378	human	ensembl	70_37	+1	known	intronic	c.11963+2674	e12+2674	0.000	-	-	-	no_errors	CMYA5	HGNC	ENSG00000164309	tier4	824	0	0	1075	4	0.37037037037037	383	1	0.260416666666667
5	79853240	79853240	T	A	SNP	ANKRD34B	ENST00000338682	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*1054	NULL	0.008	-	-	-	no_errors	ANKRD34B	HGNC	ENSG00000189127	tier3	1586	0	0	2240	2	0.0892060660124889	725	0	0
5	79957743	79957743	G	T	SNP	MSH3	ENST00000265081	human	ensembl	70_37	+1	known	intronic	c.359-3219	e3-3219	0.002	-	-	-	no_errors	MSH3	HGNC	ENSG00000113318	tier3	686	0	0	1000	2	0.199600798403194	393	4	1.00755667506297
5	80088316	80088316	G	A	SNP	MSH3	ENST00000265081	human	ensembl	70_37	+1	known	intronic	c.2544-236	e19-236	0.002	-	-	-	no_errors	MSH3	HGNC	ENSG00000113318	tier3	1697	0	0	1232	990	44.5544554455446	636	134	17.312661498708
5	80719052	80719052	A	C	SNP	SSBP2	ENST00000320672	human	ensembl	70_37	-1	known	intronic	c.1057-2700	e17-2700	0.000	-	-	-	no_errors	SSBP2	HGNC	ENSG00000145687	tier4	706	0	0	925	2	0.21551724137931	365	3	0.815217391304348
5	82115380	82115380	A	C	SNP	ENSG00000248105	ENST00000514930	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5323	NULL	0.000	-	-	-	no_coding_region:pseudogene	CTD-2218K11.3	Clone_based_vega_gene	ENSG00000248105	tier3	539	0	0	733	2	0.272108843537415	286	3	1.03092783505155
5	82421576	82421576	T	G	SNP	XRCC4	ENST00000338635	human	ensembl	70_37	+1	known	intronic	c.315+14554	e2+14554	0.047	-	-	-	no_errors	XRCC4	HGNC	ENSG00000152422	tier4	1111	0	0	1628	2	0.122699386503067	257	0	0
5	82475822	82475822	T	C	SNP	XRCC4	ENST00000338635	human	ensembl	70_37	+1	known	intronic	c.316-15767	e3-15767	0.196	-	-	-	no_errors	XRCC4	HGNC	ENSG00000152422	tier3	1751	0	0	1244	897	41.8767507002801	656	95	12.6162018592297
5	83738916	83738916	C	A	SNP	ENSG00000250320	ENST00000509406	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.373	-	-	-	no_errors	CTD-2269F5.1	Clone_based_vega_gene	ENSG00000250320	tier4	1275	0	0	1848	4	0.215866162978953	531	0	0
5	83907900	83907900	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1195	0	0	1560	8	0.510204081632653	565	0	0
5	84281219	84281219	G	T	SNP	ENSG00000214853	ENST00000425840	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14519	NULL	0.005	-	-	-	no_coding_region:pseudogene	RP11-509M23.1	Clone_based_vega_gene	ENSG00000214853	tier3	644	0	0	765	2	0.260756192959583	299	3	0.993377483443709
5	84299513	84299513	A	G	SNP	ENSG00000214853	ENST00000425840	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3400	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-509M23.1	Clone_based_vega_gene	ENSG00000214853	tier3	1309	1	0.07627765064836	957	737	43.4808259587021	452	96	17.5182481751825
5	84404495	84404495	T	G	SNP	ENSG00000249349	ENST00000446516	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*3665	NULL	0.000	-	-	-	no_errors	CTC-384G19.1	Clone_based_vega_gene	ENSG00000249349	tier3	959	0	0	1223	2	0.163265306122449	469	5	1.05042016806723
5	84598011	84598011	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1476	0	0	963	969	50.1552795031056	581	146	20.0825309491059
5	84636238	84636238	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1419	0	0	1073	627	36.8606701940035	583	0	0
5	84943492	84943492	G	A	SNP	ENSG00000250874	ENST00000507387	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15558	NULL	0.001	-	-	-	no_errors	CTC-480C2.1	Clone_based_vega_gene	ENSG00000250874	tier4	487	0	0	310	260	45.6140350877193	267	47	14.968152866242
5	85476149	85476149	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1137	0	0	1573	2	0.126903553299492	535	4	0.742115027829314
5	85738540	85738540	C	A	SNP	ENSG00000251585	ENST00000502592	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*39762	NULL	0.001	-	-	-	no_coding_region:pseudogene	CTD-2299E8.1	Clone_based_vega_gene	ENSG00000251585	tier4	1024	0	0	1313	4	0.303720577069096	452	1	0.21978021978022
5	86312432	86312432	G	A	SNP	ENSG00000249061	ENST00000503349	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-72L22.1	Clone_based_vega_gene	ENSG00000249061	tier4	1331	0	0	962	688	41.6464891041162	529	100	15.8982511923688
5	86997575	86997575	G	T	SNP	ENSG00000249362	ENST00000504287	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*22611	NULL	0.031	-	-	-	no_errors	CTD-2316B1.1	Clone_based_vega_gene	ENSG00000249362	tier4	668	2	0.298507462686567	564	292	34.1121495327103	310	0	0
5	87712830	87712830	C	A	SNP	TMEM161B-AS1	ENST00000501715	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	TMEM161B-AS1	HGNC	ENSG00000247828	tier4	1096	0	0	1392	5	0.357653791130186	530	0	0
5	88117574	88117574	A	G	SNP	MEF2C	ENST00000437473	human	ensembl	70_37	-1	known	intronic	c.54+1978	e1+1978	0.003	-	-	-	no_errors	MEF2C	HGNC	ENSG00000081189	tier4	1031	0	0	1504	3	0.19893899204244	511	0	0
5	88461659	88461659	A	T	SNP	ENSG00000248309	ENST00000512585	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.066	-	-	-	no_errors	CTC-454M9.1	Clone_based_vega_gene	ENSG00000248309	tier3	1301	0	0	1770	4	0.225479143179256	571	2	0.349040139616056
5	88681049	88681049	A	G	SNP	ENSG00000248309	ENST00000514092	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTC-454M9.1	Clone_based_vega_gene	ENSG00000248309	tier3	1455	0	0	1720	2	0.116076610562972	521	0	0
5	89146787	89146787	T	G	SNP	ENSG00000214942	ENST00000505109	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-49694	NULL	0.001	-	-	-	no_errors	AC113167.1	Clone_based_vega_gene	ENSG00000214942	tier3	1106	0	0	1568	5	0.317863954227591	463	1	0.214592274678112
5	91229778	91229778	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	828	1	0.120481927710843	744	311	29.4507575757576	436	0	0
5	91961175	91961175	G	T	SNP	ENSG00000249776	ENST00000512210	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.334	-	-	-	no_errors	RP11-133F8.2	Clone_based_vega_gene	ENSG00000249776	tier4	2332	3	0.128259940145361	3231	12	0.369913686806412	595	12	1.97044334975369
5	91976294	91976294	A	G	SNP	ENSG00000249776	ENST00000513779	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	1.000	-	-	-	no_errors	RP11-133F8.2	Clone_based_vega_gene	ENSG00000249776	tier3	1007	1	0.0991080277502478	691	497	41.8350168350168	370	76	17.0403587443946
5	92063567	92063567	G	A	SNP	ENSG00000249984	ENST00000503489	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39606	NULL	0.000	-	-	-	no_errors	CTC-529L17.2	Clone_based_vega_gene	ENSG00000249984	tier3	1964	3	0.151975683890578	1413	1061	42.8686868686869	710	110	13.4146341463415
5	92398464	92398464	T	G	SNP	LOC100505822	ENST00000515153	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTD-2091N23.1	Clone_based_vega_gene	ENSG00000251361	tier3	992	0	0	1293	3	0.231481481481481	439	1	0.226244343891403
5	92542773	92542773	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	922	0	0	648	429	39.8328690807799	374	74	16.5178571428571
5	93831620	93831620	C	G	SNP	KIAA0825	ENST00000427991	human	ensembl	70_37	-1	known	intronic	c.971-10985	e4-10985	0.000	-	-	-	no_errors	KIAA0825	HGNC	ENSG00000185261	tier3	1466	0	0	2119	36	1.66821130676552	598	153	20.3187250996016
5	95079808	95079808	T	C	SNP	RHOBTB3	ENST00000379982	human	ensembl	70_37	+1	known	intronic	c.416-4229	e4-4229	0.000	-	-	-	no_errors	RHOBTB3	HGNC	ENSG00000164292	tier3	746	0	0	1036	2	0.192678227360308	486	0	0
5	96292887	96292887	G	T	SNP	LNPEP	ENST00000231368	human	ensembl	70_37	+1	known	intronic	c.19+21009	e1+21009	0.017	-	-	-	no_errors	LNPEP	HGNC	ENSG00000113441	tier4	1018	0	0	1283	4	0.31055900621118	431	1	0.229885057471264
5	96942819	96942819	T	C	SNP	ENSG00000250331	ENST00000504012	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.060	-	-	-	no_errors	RP11-1E3.1	Clone_based_vega_gene	ENSG00000250331	tier4	1058	0	0	1494	3	0.200400801603206	452	2	0.440528634361234
5	99479853	99479853	G	A	SNP	ENSG00000207077	ENST00000384349	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-9523	NULL	0.001	-	-	-	no_errors	U6	RFAM	ENSG00000207077	tier4	1049	1	0.0951474785918173	1310	5	0.379650721336371	405	79	16.3223140495868
5	99765078	99765078	T	G	SNP	ENSG00000247877	ENST00000499025	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*20380	NULL	0.000	-	-	-	no_errors	CTD-2001C12.1	Clone_based_vega_gene	ENSG00000247877	tier3	862	0	0	1203	2	0.16597510373444	431	1	0.230414746543779
5	100155105	100155105	T	C	SNP	ST8SIA4	ENST00000231461	human	ensembl	70_37	-1	known	intronic	c.798-7272	e5-7272	0.047	-	-	-	no_errors	ST8SIA4	HGNC	ENSG00000113532	tier3	532	0	0	796	4	0.5	275	2	0.72202166064982
5	100830765	100830765	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1152	0	0	1478	1	0.0676132521974307	541	4	0.73394495412844
5	100870436	100870436	C	G	SNP	ENSG00000264318	ENST00000577858	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-47098	NULL	0.015	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000264318	tier4	741	0	0	949	2	0.210304942166141	381	0	0
5	101746762	101746762	G	T	SNP	SLCO6A1	ENST00000379807	human	ensembl	70_37	-1	known	intronic	c.1626+1932	e9+1932	0.000	-	-	-	no_errors	SLCO6A1	HGNC	ENSG00000205359	tier3	1078	0	0	1395	1	0.0716332378223496	389	4	1.0126582278481
5	101781393	101781393	T	A	SNP	SLCO6A1	ENST00000379807	human	ensembl	70_37	-1	known	intronic	c.1132-6928	e7-6928	0.222	-	-	-	no_errors	SLCO6A1	HGNC	ENSG00000205359	tier4	736	1	0.135685210312076	841	104	11.005291005291	332	0	0
5	101996473	101996473	G	A	SNP	LINC00491	ENST00000505527	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	LINC00491	HGNC	ENSG00000250682	tier4	1381	0	0	2006	2	0.099502487562189	581	0	0
5	105626275	105626275	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1018	0	0	1323	2	0.150943396226415	401	1	0.247524752475248
5	107655195	107655195	C	A	SNP	FBXL17	ENST00000542267	human	ensembl	70_37	-1	known	intronic	c.1506+28905	e4+28905	0.000	-	-	-	no_errors	FBXL17	HGNC	ENSG00000145743	tier3	1307	0	0	1774	2	0.112612612612613	607	0	0
5	108927246	108927246	T	G	SNP	KRT18P42	ENST00000505048	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*1953	NULL	0.000	-	-	-	no_coding_region:pseudogene	KRT18P42	HGNC	ENSG00000214794	tier4	964	0	0	1495	7	0.465116279069767	422	2	0.471698113207547
5	110404501	110404501	G	T	SNP	WDR36	ENST00000506538	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23486	NULL	0.000	-	-	-	no_errors	WDR36	HGNC	ENSG00000134987	tier3	1243	0	0	1787	2	0.111731843575419	633	0	0
5	111309245	111309245	A	C	SNP	NREP	ENST00000395634	human	ensembl	70_37	-1	known	intronic	c.135+1726	e2+1726	0.000	-	-	-	no_errors	NREP	HGNC	ENSG00000134986	tier3	757	0	0	1059	4	0.376293508936971	313	2	0.634920634920635
5	111568622	111568622	C	A	SNP	EPB41L4A	ENST00000261486	human	ensembl	70_37	-1	known	intronic	c.1087+1709	e12+1709	0.000	-	-	-	no_errors	EPB41L4A	HGNC	ENSG00000129595	tier3	801	0	0	1074	1	0.0928505106778087	333	2	0.597014925373134
5	111928660	111928660	T	C	SNP	ENSG00000250358	ENST00000507565	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35637	NULL	0.000	-	-	-	no_errors	RP11-159K7.2	Clone_based_vega_gene	ENSG00000250358	tier3	947	1	0.105485232067511	688	493	41.7442845046571	377	73	16.1504424778761
5	112272916	112272916	A	C	SNP	DCP2	ENST00000389063	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39715	NULL	0.108	-	-	-	no_errors	DCP2	HGNC	ENSG00000172795	tier4	285	0	0	468	2	0.424628450106157	180	4	2.16216216216216
5	112554023	112554023	T	G	SNP	MCC	ENST00000302475	human	ensembl	70_37	-1	known	intronic	c.58-66904	e2-66904	0.058	-	-	-	no_errors	MCC	HGNC	ENSG00000171444	tier3	833	0	0	1136	5	0.438212094653812	314	5	1.56739811912226
5	113487082	113487082	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	715	0	0	1000	2	0.199401794616152	333	0	0
5	114038189	114038189	C	A	SNP	ENSG00000246316	ENST00000506265	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34086	NULL	0.000	-	-	-	no_errors	RP11-492A10.1	Clone_based_vega_gene	ENSG00000246316	tier3	1549	1	0.0645161290322581	919	976	51.5039577836412	639	132	17.1206225680934
5	115609034	115609034	A	C	SNP	COMMD10	ENST00000274458	human	ensembl	70_37	+1	known	intronic	c.511-18180	e6-18180	0.022	-	-	-	no_errors	COMMD10	HGNC	ENSG00000145781	tier3	819	0	0	1135	2	0.175901495162709	394	5	1.2531328320802
5	115642848	115642848	A	C	SNP	COMMD10	ENST00000503424	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	COMMD10	HGNC	ENSG00000145781	tier3	457	0	0	569	1	0.175438596491228	249	3	1.19047619047619
5	115669842	115669842	A	C	SNP	COMMD10	ENST00000503424	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.374	-	-	-	no_errors	COMMD10	HGNC	ENSG00000145781	tier4	490	0	0	662	2	0.301204819277108	327	0	0
5	117910808	117910808	C	A	SNP	ENSG00000249128	ENST00000503320	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21075	NULL	0.000	-	-	-	no_errors	RP11-2N5.1	Clone_based_vega_gene	ENSG00000249128	tier3	1068	0	0	1275	4	0.3125	477	0	0
5	119406406	119406406	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1131	0	0	1613	3	0.185528756957328	490	0	0
5	120076808	120076808	A	G	SNP	ENSG00000248927	ENST00000511422	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40105	NULL	0.001	-	-	-	no_errors	CTD-2334D19.1	Clone_based_vega_gene	ENSG00000248927	tier4	809	0	0	493	437	46.989247311828	291	74	20.2739726027397
5	120428681	120428681	A	C	SNP	ENSG00000251135	ENST00000509046	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*48954	NULL	0.001	-	-	-	no_coding_region:pseudogene	AC008565.1	Clone_based_vega_gene	ENSG00000251135	tier4	482	0	0	655	2	0.303951367781155	240	1	0.4149377593361
5	122185286	122185286	C	A	SNP	SNX24	ENST00000261369	human	ensembl	70_37	+1	known	intronic	c.60+3898	e1+3898	0.000	-	-	-	no_errors	SNX24	HGNC	ENSG00000064652	tier3	969	0	0	1425	1	0.0701262272089762	514	7	1.34357005758157
5	123158229	123158229	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	555	0	0	705	3	0.423131170662906	311	4	1.26984126984127
5	123264242	123264242	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	777	0	0	639	280	30.4017372421281	339	0	0
5	123446597	123446597	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	847	0	0	1054	2	0.189214758751183	413	0	0
5	124033696	124033696	T	G	SNP	ZNF608	ENST00000306315	human	ensembl	70_37	-1	known	intronic	c.1162+3011	e2+3011	0.024	-	-	-	no_errors	ZNF608	HGNC	ENSG00000168916	tier3	1505	0	0	2194	2	0.0910332271279017	597	1	0.167224080267559
5	125201048	125201048	C	T	SNP	ENSG00000249950	ENST00000511727	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2162	NULL	0.000	-	-	-	no_coding_region:pseudogene	CTC-394G3.1	Clone_based_vega_gene	ENSG00000249950	tier4	1850	3	0.161725067385445	1361	1161	46.0348929421094	705	162	18.6421173762946
5	125668627	125668627	A	C	SNP	GRAMD3	ENST00000513040	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-27397	NULL	0.000	-	-	-	no_errors	GRAMD3	HGNC	ENSG00000155324	tier3	594	0	0	814	3	0.367197062423501	316	1	0.315457413249211
5	126696014	126696014	C	T	SNP	MEGF10	ENST00000274473	human	ensembl	70_37	+1	known	intronic	c.320-9588	e4-9588	0.034	-	-	-	no_errors	MEGF10	HGNC	ENSG00000145794	tier4	1509	0	0	1271	549	30.1648351648352	689	0	0
5	128394267	128394267	C	A	SNP	ISOC1	ENST00000173527	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36193	NULL	0.052	-	-	-	no_errors	ISOC1	HGNC	ENSG00000066583	tier4	545	0	0	744	3	0.401606425702811	283	1	0.350877192982456
5	128997345	128997345	C	T	SNP	ADAMTS19	ENST00000274487	human	ensembl	70_37	+1	known	intronic	c.2407+2915	e15+2915	0.000	-	-	-	no_errors	ADAMTS19	HGNC	ENSG00000145808	tier3	1156	0	0	1473	2	0.13550135501355	558	0	0
5	130663062	130663062	C	A	SNP	CDC42SE2	ENST00000360515	human	ensembl	70_37	+1	known	intronic	c.1+11225	e0+11225	0.001	-	-	-	no_errors	CDC42SE2	HGNC	ENSG00000158985	tier3	1092	0	0	1751	2	0.114090131203651	656	0	0
5	132396675	132396675	C	A	SNP	HSPA4	ENST00000304858	human	ensembl	70_37	+1	known	intronic	c.108-3997	e2-3997	0.012	-	-	-	no_errors	HSPA4	HGNC	ENSG00000170606	tier4	1195	0	0	1595	2	0.125156445556946	527	0	0
5	134104441	134104441	T	G	SNP	DDX46	ENST00000452510	human	ensembl	70_37	+1	known	intronic	c.350+1691	e3+1691	0.025	-	-	-	no_errors	DDX46	HGNC	ENSG00000145833	tier4	1555	0	0	2710	5	0.184162062615101	576	1	0.172711571675302
5	134460629	134460629	C	T	SNP	ENSG00000250513	ENST00000505828	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.243	-	-	-	no_errors	CTC-349C3.1	Clone_based_vega_gene	ENSG00000250513	tier3	364	1	0.273972602739726	246	204	45.3333333333333	110	26	18.5714285714286
5	134513722	134513722	A	C	SNP	ENSG00000250513	ENST00000505828	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTC-349C3.1	Clone_based_vega_gene	ENSG00000250513	tier3	284	0	0	422	3	0.705882352941176	200	0	0
5	134627472	134627472	C	T	SNP	LOC100996485	ENST00000432382	human	ensembl	70_37	+1	putative	intronic	c.1-41976	e1-41976	0.397	-	-	-	no_errors	CTC-203F4.1	Clone_based_vega_gene	ENSG00000224186	tier4	859	0	0	1121	37	3.19240724762727	398	0	0
5	135198358	135198358	C	T	SNP	SLC25A48	ENST00000420621	human	ensembl	70_37	+1	known	intronic	c.422-8792	e5-8792	0.000	-	-	-	no_errors	SLC25A48	HGNC	ENSG00000145832	tier4	1164	2	0.171379605826907	785	706	47.3507712944333	434	113	20.6581352833638
5	137143149	137143149	G	A	SNP	NPY6R	ENST00000510937	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.012	-	-	-	no_errors	NPY6R	HGNC	ENSG00000226306	tier4	1136	2	0.175746924428822	1145	504	30.5454545454545	536	2	0.371747211895911
5	138764119	138764119	A	G	SNP	DNAJC18	ENST00000302060	human	ensembl	70_37	-1	known	intronic	c.373+108	e3+108	0.001	-	-	-	no_errors	DNAJC18	HGNC	ENSG00000170464	tier3	1313	0	0	2142	2	0.0932400932400932	592	4	0.671140939597315
5	139158949	139158949	T	G	SNP	PSD2	ENST00000274710	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30077	NULL	0.001	-	-	-	no_errors	PSD2	HGNC	ENSG00000146005	tier4	717	0	0	1181	3	0.253378378378378	358	0	0
5	143865399	143865399	T	G	SNP	ENSG00000213488	ENST00000511084	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36304	NULL	0.015	-	-	-	no_coding_region:pseudogene	CTB-85P21.1	Clone_based_vega_gene	ENSG00000213488	tier3	1498	0	0	1952	2	0.10230179028133	714	0	0
5	146002775	146002775	G	A	SNP	PPP2R2B	ENST00000394414	human	ensembl	70_37	-1	known	intronic	c.988+15039	e7+15039	0.000	-	-	-	no_errors	PPP2R2B	HGNC	ENSG00000156475	tier3	1394	1	0.0716845878136201	1852	2	0.107758620689655	569	35	5.79470198675497
5	146170759	146170759	A	G	SNP	PPP2R2B	ENST00000394414	human	ensembl	70_37	-1	known	intronic	c.268+86806	e2+86806	0.002	-	-	-	no_errors	PPP2R2B	HGNC	ENSG00000156475	tier3	1398	0	0	1853	1	0.0539374325782093	613	4	0.648298217179903
5	146197917	146197917	G	A	SNP	PPP2R2B	ENST00000394414	human	ensembl	70_37	-1	known	intronic	c.268+59648	e2+59648	0.000	-	-	-	no_errors	PPP2R2B	HGNC	ENSG00000156475	tier3	982	0	0	1225	6	0.485436893203883	488	2	0.407331975560081
5	146420283	146420283	A	T	SNP	PPP2R2B	ENST00000508267	human	ensembl	70_37	-1	putative	5_prime_untranslated_region	c.-5542	NULL	0.350	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	PPP2R2B	HGNC	ENSG00000156475	tier2	1070	0	0	728	575	44.1289332310054	465	101	17.8445229681979
5	146438143	146438143	A	C	SNP	PPP2R2B	ENST00000394409	human	ensembl	70_37	-1	known	intronic	c.50+22479	e1+22479	0.289	-	-	-	no_errors	PPP2R2B	HGNC	ENSG00000156475	tier3	739	0	0	961	2	0.207684319833853	374	2	0.531914893617021
5	147843141	147843141	G	A	SNP	HTR4	ENST00000354217	human	ensembl	70_37	-1	known	intronic	c.1077-12306	e6-12306	0.001	-	-	-	no_errors	HTR4	HGNC	ENSG00000164270	tier4	1011	0	0	1171	134	10.2681992337165	521	0	0
5	147866039	147866039	G	A	SNP	HTR4	ENST00000360693	human	ensembl	70_37	-1	known	intronic	c.1077-2097	e6-2097	0.001	-	-	-	no_errors	HTR4	HGNC	ENSG00000164270	tier4	1072	0	0	808	560	40.9057706355004	368	97	20.7708779443255
5	148575665	148575665	T	G	SNP	ABLIM3	ENST00000309868	human	ensembl	70_37	+1	known	intronic	c.152-2117	e3-2117	0.000	-	-	-	no_errors	ABLIM3	HGNC	ENSG00000173210	tier4	463	0	0	632	2	0.315457413249211	221	0	0
5	149491265	149491265	T	C	SNP	CSF1R	ENST00000286301	human	ensembl	70_37	-1	known	intronic	c.1+1559	e0+1559	0.000	-	-	-	no_errors	CSF1R	HGNC	ENSG00000182578	tier4	672	0	0	1008	2	0.198019801980198	296	1	0.335570469798658
5	149862352	149862352	A	C	SNP	ENSG00000254333	ENST00000519040	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTC-367J11.1	Clone_based_vega_gene	ENSG00000254333	tier3	409	0	0	658	2	0.303030303030303	249	3	1.19047619047619
5	150189020	150189020	T	G	SNP	IRGM	ENST00000522154	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-38666	NULL	0.045	-	-	-	no_errors	IRGM	HGNC	ENSG00000237693	tier4	955	0	0	1405	3	0.21291696238467	482	1	0.20703933747412
5	151391117	151391117	G	A	SNP	ENSG00000254226	ENST00000524034	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.131	-	-	-	no_errors	CTB-12O2.1	Clone_based_vega_gene	ENSG00000254226	tier4	1530	0	0	1001	814	44.7744774477448	619	136	17.9656538969617
5	151594218	151594218	A	C	SNP	ENSG00000254226	ENST00000518431	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.750	-	-	-	no_errors	CTB-12O2.1	Clone_based_vega_gene	ENSG00000254226	tier3	996	0	0	1282	2	0.155400155400155	401	2	0.496277915632754
5	151667476	151667476	G	C	SNP	ENSG00000254226	ENST00000518431	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*17470	NULL	0.001	-	-	-	no_errors	CTB-12O2.1	Clone_based_vega_gene	ENSG00000254226	tier3	1389	0	0	960	704	42.2315536892621	524	103	16.3751987281399
5	154675251	154675251	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1630	2	0.122549019607843	1369	618	31.1021640664318	763	0	0
5	155788742	155788742	A	T	SNP	SGCD	ENST00000337851	human	ensembl	70_37	+1	known	intronic	c.192+17055	e2+17055	0.089	-	-	-	no_errors	SGCD	HGNC	ENSG00000170624	tier3	1350	0	0	933	806	46.3484761357102	428	155	26.5866209262436
5	156252843	156252843	G	T	SNP	PPP1R2P3	ENST00000420481	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24706	NULL	0.004	-	-	-	no_coding_region:pseudogene	PPP1R2P3	HGNC	ENSG00000231989	tier3	1100	0	0	1555	3	0.192554557124519	557	0	0
5	157928537	157928537	G	C	SNP	ENSG00000254135	ENST00000519609	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	RP11-32D16.1	Clone_based_vega_gene	ENSG00000254135	tier4	1059	1	0.0943396226415094	685	676	49.632892804699	343	77	18.3333333333333
5	158523516	158523516	C	T	SNP	EBF1	ENST00000522192	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-158523516	NULL	0.000	-	-	-	no_coding_region	EBF1	HGNC	ENSG00000164330	tier3	864	0	0	602	571	48.6786018755328	335	93	21.7289719626168
5	158932570	158932570	A	C	SNP	LOC285627	ENST00000518418	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39286	NULL	0.001	-	-	-	no_errors	AC008703.1	Clone_based_vega_gene	ENSG00000253298	tier3	733	0	0	1021	1	0.0978473581213307	321	4	1.23076923076923
5	163725821	163725821	G	A	SNP	ENSG00000241956	ENST00000517508	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	CTC-340A15.2	Clone_based_vega_gene	ENSG00000241956	tier3	1731	2	0.115340253748558	1247	972	43.8035150968905	638	106	14.1711229946524
5	164860951	164860951	C	T	SNP	ENSG00000253693	ENST00000522189	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTC-535M15.2	Clone_based_vega_gene	ENSG00000253693	tier4	1293	0	0	1691	2	0.118133490844654	592	1	0.166389351081531
5	165136981	165136981	T	C	SNP	ENSG00000253693	ENST00000522189	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTC-535M15.2	Clone_based_vega_gene	ENSG00000253693	tier3	1917	0	0	1696	777	31.4066289409863	723	0	0
5	165754002	165754002	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	874	0	0	1204	3	0.248344370860927	371	0	0
5	166049916	166049916	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1662	0	0	1387	658	32.1760391198044	723	0	0
5	166433402	166433402	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1270	1	0.0785545954438335	853	634	42.6075268817204	500	76	13.1944444444444
5	167041415	167041415	G	A	SNP	TENM2	ENST00000518659	human	ensembl	70_37	+1	known	intronic	c.502+238937	e2+238937	0.001	-	-	-	no_errors	TENM2	HGNC	ENSG00000145934	tier3	1191	0	0	748	601	44.4855662472243	443	100	18.4162062615101
5	168675697	168675697	T	G	SNP	SLIT3	ENST00000519560	human	ensembl	70_37	-1	known	intronic	c.269+2695	e2+2695	0.080	-	-	-	no_errors	SLIT3	HGNC	ENSG00000184347	tier3	1135	0	0	1593	3	0.187852222917971	516	1	0.193423597678917
5	169433204	169433204	A	C	SNP	DOCK2	ENST00000256935	human	ensembl	70_37	+1	known	intronic	c.3073-2297	e31-2297	0.003	-	-	-	no_errors	DOCK2	HGNC	ENSG00000134516	tier3	610	0	0	818	3	0.364520048602673	263	0	0
5	169584634	169584634	G	A	SNP	ENSG00000253219	ENST00000518924	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15690	NULL	0.001	-	-	-	no_coding_region:pseudogene	CTB-27N1.2	Clone_based_vega_gene	ENSG00000253219	tier4	559	0	0	401	303	42.9787234042553	227	33	12.6923076923077
5	172509588	172509588	G	A	SNP	CREBRF	ENST00000540014	human	ensembl	70_37	+1	known	intronic	c.9+1801	e1+1801	0.003	-	-	-	no_errors	CREBRF	HGNC	ENSG00000164463	tier3	866	0	0	1305	4	0.305576776165011	442	2	0.45045045045045
5	172510739	172510739	G	T	SNP	CREBRF	ENST00000540014	human	ensembl	70_37	+1	known	intronic	c.10-2765	e2-2765	0.046	-	-	-	no_errors	CREBRF	HGNC	ENSG00000164463	tier3	1155	0	0	1745	1	0.05720823798627	643	4	0.618238021638331
5	173702670	173702670	T	G	SNP	HMP19	ENST00000521585	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*70381	NULL	0.000	-	-	-	no_errors	NSG2	Uniprot_genename	ENSG00000170091	tier4	514	0	0	674	2	0.29585798816568	254	0	0
5	173923709	173923709	C	G	SNP	ENSG00000249306	ENST00000507361	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-267A15.1	Clone_based_vega_gene	ENSG00000249306	tier3	754	0	0	1008	2	0.198019801980198	400	2	0.495049504950495
5	174532146	174532146	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1089	0	0	1396	5	0.356887937187723	502	1	0.198807157057654
5	174766300	174766300	A	C	SNP	ARL2BPP6	ENST00000512757	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*48045	NULL	0.050	-	-	-	no_coding_region:pseudogene	ARL2BPP6	HGNC	ENSG00000248355	tier4	563	0	0	819	4	0.486026731470231	270	3	1.0989010989011
5	174846564	174846564	C	T	SNP	DRD1	ENST00000329144	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*22198	NULL	0.000	-	-	-	no_errors	DRD1	HGNC	ENSG00000184845	tier3	430	2	0.462962962962963	266	242	47.6377952755905	170	64	27.3504273504274
5	175009616	175009616	A	T	SNP	ENSG00000222111	ENST00000410179	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-45575	NULL	0.020	-	-	-	no_errors	7SK	RFAM	ENSG00000222111	tier4	719	0	0	899	4	0.44296788482835	354	1	0.28169014084507
5	175477557	175477557	T	G	SNP	ENSG00000248469	ENST00000512675	human	ensembl	70_37	-1	putative	3_prime_untranslated_region	c.*49	NULL	0.307	-	-	-	no_errors	RP11-826N14.2	Clone_based_vega_gene	ENSG00000248469	tier3	619	0	0	982	3	0.304568527918782	320	1	0.311526479750779
5	176655728	176655728	G	A	SNP	NSD1	ENST00000439151	human	ensembl	70_37	+1	known	intronic	c.3797-7094	e5-7094	0.017	-	-	-	no_errors	NSD1	HGNC	ENSG00000165671	tier3	1076	0	0	927	735	44.2238267148014	560	94	14.3292682926829
5	176838403	176838403	T	G	SNP	GRK6	ENST00000506296	human	ensembl	70_37	+1	putative	intronic	c.1+6845	e0+6845	0.037	-	-	-	no_stop_codon	GRK6	HGNC	ENSG00000198055	tier4	499	0	0	874	2	0.228050171037628	312	3	0.952380952380952
5	177789701	177789701	G	A	SNP	COL23A1	ENST00000390654	human	ensembl	70_37	-1	known	intronic	c.362-55781	e3-55781	0.014	-	-	-	no_errors	COL23A1	HGNC	ENSG00000050767	tier4	636	1	0.156739811912226	474	329	40.9713574097136	281	58	17.0087976539589
5	177986149	177986149	C	T	SNP	COL23A1	ENST00000390654	human	ensembl	70_37	-1	known	intronic	c.361+1534	e2+1534	0.009	-	-	-	no_errors	COL23A1	HGNC	ENSG00000050767	tier3	512	0	0	547	46	7.75716694772344	284	0	0
5	179442679	179442679	G	A	SNP	RNF130	ENST00000521389	human	ensembl	70_37	-1	known	intronic	c.443-2368	e3-2368	0.000	-	-	-	no_errors	RNF130	HGNC	ENSG00000113269	tier4	144	0	0	216	3	1.36986301369863	20	0	0
5	180491449	180491449	A	C	SNP	ENSG00000241870	ENST00000468453	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-637	NULL	0.048	-	-	-	no_coding_region:pseudogene	CTB-14A14.1	Clone_based_vega_gene	ENSG00000241870	tier4	494	0	0	768	2	0.25974025974026	286	1	0.346020761245675
6	355289	355289	T	G	SNP	IRF4	ENST00000380956	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37864	NULL	0.001	-	-	-	no_errors	IRF4	HGNC	ENSG00000137265	tier3	1554	0	0	2056	2	0.0971345313258863	969	0	0
6	931809	931809	T	C	SNP	ENSG00000260982	ENST00000569502	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22215	NULL	0.442	-	-	-	no_errors	RP5-1077H22.2	Clone_based_vega_gene	ENSG00000260982	tier3	985	0	0	1267	2	0.157604412923562	425	1	0.234741784037559
6	3480409	3480409	T	C	SNP	SLC22A23	ENST00000406686	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-23616	NULL	0.011	-	-	-	no_errors	SLC22A23	HGNC	ENSG00000137266	tier4	729	0	0	944	2	0.211193241816262	334	1	0.298507462686567
6	3622839	3622839	C	A	SNP	ENSG00000228793	ENST00000443445	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP1-223B1.1	Clone_based_vega_gene	ENSG00000228793	tier3	600	0	0	818	2	0.24390243902439	322	0	0
6	4298005	4298005	G	A	SNP	ENSG00000231811	ENST00000437430	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*47972	NULL	0.008	-	-	-	no_errors	RP3-527G5.1	Clone_based_vega_gene	ENSG00000231811	tier4	199	0	0	126	118	48.3606557377049	88	11	11.1111111111111
6	5677877	5677877	C	A	SNP	FARS2	ENST00000274680	human	ensembl	70_37	+1	known	intronic	c.1217+64324	e5+64324	0.007	-	-	-	no_errors	FARS2	HGNC	ENSG00000145982	tier3	1131	0	0	1469	3	0.203389830508475	546	2	0.363636363636364
6	7630338	7630338	A	C	SNP	DSP	ENST00000379802	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*44227	NULL	0.000	-	-	-	no_errors	DSP	HGNC	ENSG00000096696	tier4	645	0	0	944	2	0.211416490486258	308	0	0
6	9548972	9548972	T	C	SNP	OFCC1	ENST00000469421	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*47371	NULL	0.000	-	-	-	no_errors	OFCC1	HGNC	ENSG00000181355	tier3	889	0	0	1202	2	0.166112956810631	369	1	0.268817204301075
6	10267104	10267104	T	G	SNP	ENSG00000221583	ENST00000408656	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*44710	NULL	0.000	-	-	-	no_errors	U6atac	RFAM	ENSG00000221583	tier3	595	0	0	770	4	0.516795865633075	307	0	0
6	10930013	10930013	C	A	SNP	SYCP2L	ENST00000283141	human	ensembl	70_37	+1	known	intronic	c.1489-590	e19-590	0.016	-	-	-	no_errors	SYCP2L	HGNC	ENSG00000153157	tier4	68	0	0	116	2	1.69491525423729	14	0	0
6	11832555	11832555	A	C	SNP	ADTRP	ENST00000379415	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-53563	NULL	0.003	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	ADTRP	HGNC	ENSG00000111863	tier3	1069	0	0	1422	5	0.350385423966363	536	2	0.371747211895911
6	12031689	12031689	T	G	SNP	HIVEP1	ENST00000379388	human	ensembl	70_37	+1	known	intronic	c.40+15788	e1+15788	0.000	-	-	-	no_errors	HIVEP1	HGNC	ENSG00000095951	tier3	720	1	0.13869625520111	515	485	48.4031936127745	284	71	20
6	12306425	12306425	G	A	SNP	ENSG00000218893	ENST00000405924	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13260	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP3-451B15.3	Clone_based_vega_gene	ENSG00000218893	tier4	1043	0	0	1296	133	9.3006993006993	557	2	0.35778175313059
6	12650590	12650590	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1208	0	0	1702	2	0.117370892018779	481	0	0
6	12817297	12817297	A	G	SNP	PHACTR1	ENST00000432934	human	ensembl	70_37	+1	known	intronic	c.250+67275	e2+67275	0.015	-	-	-	no_errors	PHACTR1	HGNC	ENSG00000112137	tier3	877	0	0	1118	2	0.178412132024978	445	2	0.447427293064877
6	13352615	13352615	C	T	SNP	TBC1D7	ENST00000356436	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25485	NULL	0.060	-	-	-	no_errors	TBC1D7	HGNC	ENSG00000145979	tier4	138	0	0	190	2	1.04166666666667	108	0	0
6	13423119	13423119	T	G	SNP	GFOD1	ENST00000379287	human	ensembl	70_37	-1	known	intronic	c.254-57225	e2-57225	0.000	-	-	-	no_errors	GFOD1	HGNC	ENSG00000145990	tier3	1533	0	0	2259	5	0.220848056537102	636	0	0
6	14150919	14150919	C	T	SNP	ENSG00000238987	ENST00000459188	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-5774	NULL	0.000	-	-	-	no_errors	U7	RFAM	ENSG00000238987	tier3	1147	0	0	830	717	46.3178294573643	451	125	21.7013888888889
6	15290369	15290369	T	C	SNP	JARID2	ENST00000341776	human	ensembl	70_37	+1	known	intronic	c.45+43554	e1+43554	0.000	-	-	-	no_errors	JARID2	HGNC	ENSG00000008083	tier4	869	0	0	1434	6	0.416377515614157	390	2	0.510204081632653
6	16752247	16752247	A	C	SNP	ATXN1	ENST00000244769	human	ensembl	70_37	-1	known	intronic	c.1+1217	e0+1217	0.000	-	-	-	no_errors	ATXN1	HGNC	ENSG00000124788	tier4	1081	0	0	1656	2	0.120627261761158	506	0	0
6	16976130	16976130	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	656	0	0	1058	2	0.188679245283019	341	4	1.15942028985507
6	17264677	17264677	T	G	SNP	RBM24	ENST00000379052	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17136	NULL	0.000	-	-	-	no_errors	RBM24	HGNC	ENSG00000112183	tier3	915	0	0	1366	2	0.146198830409357	425	0	0
6	17298676	17298676	G	A	SNP	RBM24	ENST00000379052	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*6326	NULL	0.000	-	-	-	no_errors	RBM24	HGNC	ENSG00000112183	tier3	1261	1	0.0791765637371338	1043	822	44.0514469453376	453	108	19.2513368983957
6	19167153	19167153	T	G	SNP	ENSG00000217379	ENST00000402485	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*22762	NULL	0.002	-	-	-	no_coding_region:pseudogene	RP11-254A17.1	Clone_based_vega_gene	ENSG00000217379	tier3	603	0	0	782	2	0.254777070063694	309	0	0
6	19438244	19438244	A	G	SNP	RNA5SP205	ENST00000364653	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-270	NULL	0.000	-	-	-	no_errors	RNA5SP205	HGNC	ENSG00000201523	tier3	1013	0	0	1370	2	0.145772594752187	385	2	0.516795865633075
6	20204929	20204929	T	G	SNP	MBOAT1	ENST00000324607	human	ensembl	70_37	-1	known	intronic	c.99+7438	e1+7438	0.004	-	-	-	no_errors	MBOAT1	HGNC	ENSG00000172197	tier3	929	0	0	1419	2	0.140745953553835	411	0	0
6	20225279	20225279	C	T	SNP	ENSG00000227803	ENST00000449143	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.021	-	-	-	no_errors	RP11-239H6.2	Clone_based_vega_gene	ENSG00000227803	tier4	1747	0	0	2652	3	0.112951807228916	710	2	0.273972602739726
6	20598307	20598307	C	G	SNP	CDKAL1	ENST00000274695	human	ensembl	70_37	+1	known	intronic	c.286+49371	e2+49371	0.000	-	-	-	no_errors	CDKAL1	HGNC	ENSG00000145996	tier3	788	0	0	1115	2	0.178890876565295	548	0	0
6	20793836	20793836	A	G	SNP	CDKAL1	ENST00000274695	human	ensembl	70_37	+1	known	intronic	c.638+12340	e6+12340	0.001	-	-	-	no_errors	CDKAL1	HGNC	ENSG00000145996	tier4	500	0	0	383	339	46.9529085872576	273	42	13.3333333333333
6	21346594	21346594	T	A	SNP	ENSG00000227089	ENST00000426374	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8048	NULL	0.020	-	-	-	no_errors	RP1-135L22.1	Clone_based_vega_gene	ENSG00000227089	tier3	775	0	0	1112	9	0.8028545941124	402	2	0.495049504950495
6	22867594	22867594	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	942	0	0	1238	2	0.161290322580645	514	4	0.772200772200772
6	23311325	23311325	A	G	SNP	ENSG00000235743	ENST00000431001	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26614	NULL	0.002	-	-	-	no_errors	RP11-439H9.1	Clone_based_vega_gene	ENSG00000235743	tier3	992	0	0	1144	4	0.348432055749129	417	1	0.239234449760766
6	23796204	23796204	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	773	1	0.129198966408269	977	78	7.39336492890995	338	0	0
6	23915175	23915175	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1467	0	0	995	904	47.5539189900053	522	111	17.4803149606299
6	24346979	24346979	C	A	SNP	DCDC2	ENST00000378454	human	ensembl	70_37	-1	known	intronic	c.348+6818	e2+6818	0.013	-	-	-	no_errors	DCDC2	HGNC	ENSG00000146038	tier4	1551	1	0.0643500643500643	2323	4	0.171895143962183	445	7	1.54185022026432
6	24723721	24723721	T	G	SNP	C6orf62	ENST00000378119	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4825	NULL	0.005	-	-	-	no_errors	C6orf62	HGNC	ENSG00000112308	tier4	2737	0	0	4134	2	0.0483208504469679	656	0	0
6	25450772	25450772	A	C	SNP	LRRC16A	ENST00000377969	human	ensembl	70_37	+1	known	intronic	c.58-94	e2-94	0.000	-	-	-	no_errors	LRRC16A	HGNC	ENSG00000079691	tier2	567	0	0	715	1	0.139664804469274	262	3	1.13207547169811
6	25553604	25553604	T	G	SNP	LRRC16A	ENST00000329474	human	ensembl	70_37	+1	novel	intronic	c.2505-633	e28-633	0.000	-	-	-	no_errors	LRRC16A	HGNC	ENSG00000079691	tier3	513	0	0	746	2	0.267379679144385	227	4	1.73160173160173
6	25831434	25831434	A	G	SNP	SLC17A1	ENST00000244527	human	ensembl	70_37	-1	known	intronic	c.1-599	e1-599	0.002	-	-	-	no_errors	SLC17A1	HGNC	ENSG00000124568	tier3	524	0	0	724	1	0.137741046831956	244	2	0.809716599190283
6	26392936	26392936	C	T	SNP	BTN2A2	ENST00000356709	human	ensembl	70_37	+1	known	missense	c.1313	p.P438L	0.000	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	-	no_errors	BTN2A2	HGNC	ENSG00000124508	tier1	1175	0	0	1228	151	10.9499637418419	842	0	0
6	26392936	26392936	C	T	SNP	BTN2A2	ENST00000356709	human	ensembl	70_37	+1	known	missense	c.1313	p.P438L	0.000	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	-	no_errors	BTN2A2	HGNC	ENSG00000124508	tier1	783	0	0	913	112	10.9268292682927	455	0	0
6	26557836	26557836	A	C	SNP	ABT1	ENST00000274849	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39375	NULL	0.000	-	-	-	no_errors	ABT1	HGNC	ENSG00000146109	tier4	1625	0	0	1031	1004	49.2881688757977	514	139	21.2863705972435
6	27026257	27026257	A	T	SNP	VN1R12P	ENST00000403778	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24168	NULL	0.005	-	-	-	no_coding_region:pseudogene	VN1R12P	HGNC	ENSG00000220581	tier3	1123	0	0	825	611	42.4895688456189	401	105	20.7509881422925
6	27157673	27157673	G	C	SNP	HIST1H2BK	ENST00000356950	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43096	NULL	0.015	-	-	-	no_errors	HIST1H2BK	HGNC	ENSG00000197903	tier4	1044	0	0	1471	1	0.0678886625933469	461	2	0.43010752688172
6	27267300	27267300	G	A	SNP	POM121L2	ENST00000429945	human	ensembl	70_37	-1	putative	intronic	c.216+11576	e1+11576	0.035	-	-	-	no_start_codon	POM121L2	HGNC	ENSG00000158553	tier4	1252	0	0	894	752	45.6865127582017	428	134	23.8434163701068
6	28094190	28094190	C	T	SNP	ZSCAN16	ENST00000340487	human	ensembl	70_37	+1	known	intronic	c.388-371	e2-371	0.032	-	-	-	no_errors	ZSCAN16	HGNC	ENSG00000196812	tier4	1187	0	0	1547	3	0.193298969072165	521	0	0
6	29173862	29173862	T	A	SNP	ENSG00000232505	ENST00000441381	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17888	NULL	0.000	-	-	-	no_errors	XXbac-BPG308J9.3	Clone_based_vega_gene	ENSG00000232505	tier3	620	0	0	438	343	43.9180537772087	265	58	17.9566563467492
6	29609884	29609884	T	C	SNP	GABBR1	ENST00000377034	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-9722	NULL	0.000	-	-	-	no_errors	GABBR1	HGNC	ENSG00000204681	tier4	955	0	0	1362	2	0.146627565982405	441	0	0
6	32887917	32887917	T	G	SNP	BRD2	ENST00000374825	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-52759	NULL	0.000	-	-	-	no_errors	BRD2	HGNC	ENSG00000204256	tier4	1275	0	0	1897	2	0.105263157894737	567	2	0.351493848857645
6	35380584	35380584	T	G	SNP	PPARD	ENST00000311565	human	ensembl	70_37	+1	known	intronic	c.130+1590	e1+1590	0.001	-	-	-	no_errors	PPARD	HGNC	ENSG00000112033	tier3	916	0	0	1429	2	0.139762403913347	436	1	0.22883295194508
6	35513004	35513004	T	G	SNP	ENSG00000228559	ENST00000450618	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.085	-	-	-	no_errors	RP3-340B19.3	Clone_based_vega_gene	ENSG00000228559	tier1	216	0	0	357	4	1.10803324099723	193	0	0
6	36644269	36644269	T	G	SNP	PI16	ENST00000536757	human	ensembl	70_37	+1	known	intronic	c.1-36699	e1-36699	0.262	-	-	-	no_errors	PI16	HGNC	ENSG00000164530	tier3	594	0	0	961	3	0.311203319502075	313	1	0.318471337579618
6	37426900	37426900	T	G	SNP	FTSJD2	ENST00000373451	human	ensembl	70_37	+1	known	intronic	c.976+314	e8+314	0.998	-	-	-	no_errors	FTSJD2	HGNC	ENSG00000137200	tier3	373	0	0	477	1	0.209205020920502	204	4	1.92307692307692
6	37987367	37987367	G	T	SNP	ZFAND3	ENST00000287218	human	ensembl	70_37	+1	known	intronic	c.113-42002	e3-42002	0.001	-	-	-	no_errors	ZFAND3	HGNC	ENSG00000156639	tier4	1069	0	0	1355	6	0.440852314474651	527	6	1.12570356472795
6	38798679	38798679	G	A	SNP	DNAH8	ENST00000359357	human	ensembl	70_37	+1	known	intronic	c.3538-1419	e27-1419	0.094	-	-	-	no_errors	DNAH8	HGNC	ENSG00000124721	tier4	1479	0	0	1126	794	41.3541666666667	589	133	18.1693989071038
6	40085053	40085053	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	771	0	0	1048	3	0.285442435775452	389	2	0.51150895140665
6	40152125	40152125	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1663	0	0	2219	2	0.090049527239982	610	0	0
6	41223866	41223866	C	T	SNP	RNA5SP207	ENST00000390874	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-16502	NULL	0.158	-	-	-	no_errors	RNA5SP207	HGNC	ENSG00000212176	tier4	827	2	0.241254523522316	637	498	43.8380281690141	353	58	14.1119221411192
6	44406394	44406394	A	T	SNP	CDC5L	ENST00000371477	human	ensembl	70_37	+1	known	intronic	c.2092-6998	e15-6998	0.001	-	-	-	no_errors	CDC5L	HGNC	ENSG00000096401	tier3	1419	0	0	2161	3	0.138568129330254	782	0	0
6	46262641	46262641	T	G	SNP	RCAN2	ENST00000306764	human	ensembl	70_37	-1	known	intronic	c.226-46008	e2-46008	0.002	-	-	-	no_errors	RCAN2	HGNC	ENSG00000172348	tier4	830	0	0	1118	2	0.178412132024978	475	0	0
6	46301823	46301823	T	G	SNP	RCAN2	ENST00000306764	human	ensembl	70_37	-1	known	intronic	c.226-85190	e2-85190	0.011	-	-	-	no_errors	RCAN2	HGNC	ENSG00000172348	tier4	517	0	0	723	3	0.413223140495868	245	0	0
6	48752815	48752815	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1965	1	0.0508388408744281	1442	1298	47.3549799343305	544	77	12.3595505617978
6	49215675	49215675	C	A	SNP	ENSG00000217631	ENST00000402892	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25566	NULL	0.035	-	-	-	no_coding_region:pseudogene	RP1-142O9.2	Clone_based_vega_gene	ENSG00000217631	tier4	1239	0	0	1715	4	0.232693426410704	489	5	1.01214574898785
6	49316390	49316390	G	A	SNP	RNU7-65P	ENST00000516648	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3869	NULL	0.003	-	-	-	no_errors	RNU7-65P	HGNC	ENSG00000252457	tier4	2577	1	0.0387897595034911	2244	1282	36.3481712503544	747	4	0.532623169107856
6	51097075	51097075	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	704	0	0	920	3	0.325027085590466	326	0	0
6	51635503	51635503	A	G	SNP	PKHD1	ENST00000371117	human	ensembl	70_37	-1	known	intronic	c.8642+1997	e54+1997	0.001	-	-	-	no_errors	PKHD1	HGNC	ENSG00000170927	tier3	1628	0	0	1222	949	43.7125748502994	669	136	16.8944099378882
6	52265032	52265032	A	G	SNP	PAQR8	ENST00000360726	human	ensembl	70_37	+1	known	intronic	c.1-2928	e1-2928	0.000	-	-	-	no_errors	PAQR8	HGNC	ENSG00000170915	tier3	1249	0	0	1920	3	0.15600624024961	631	2	0.31496062992126
6	52501570	52501570	T	G	SNP	TMEM14A	ENST00000211314	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40331	NULL	0.003	-	-	-	no_errors	TMEM14A	HGNC	ENSG00000096092	tier3	1663	0	0	2371	3	0.126262626262626	565	1	0.176678445229682
6	53736004	53736004	A	C	SNP	LRRC1	ENST00000370888	human	ensembl	70_37	+1	known	intronic	c.278-7787	e3-7787	0.204	-	-	-	no_errors	LRRC1	HGNC	ENSG00000137269	tier4	975	0	0	1323	2	0.150829562594268	393	0	0
6	54960382	54960382	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	711	0	0	1010	2	0.197628458498024	299	0	0
6	55047372	55047372	A	C	SNP	HCRTR2	ENST00000370862	human	ensembl	70_37	+1	known	intronic	c.223+7764	e1+7764	0.000	-	-	-	no_errors	HCRTR2	HGNC	ENSG00000137252	tier4	1323	0	0	1790	2	0.111607142857143	555	0	0
6	55105665	55105665	C	T	SNP	HCRTR2	ENST00000370862	human	ensembl	70_37	+1	known	intronic	c.224-7772	e2-7772	0.000	-	-	-	no_errors	HCRTR2	HGNC	ENSG00000137252	tier3	2108	0	0	2878	2	0.0693721817551162	863	2	0.229095074455899
6	55138241	55138241	T	C	SNP	HCRTR2	ENST00000370862	human	ensembl	70_37	+1	known	intronic	c.763-3937	e5-3937	0.001	-	-	-	no_errors	HCRTR2	HGNC	ENSG00000137252	tier4	966	0	0	1340	2	0.14903129657228	451	2	0.441501103752759
6	55856570	55856570	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	833	0	0	1012	3	0.295566502463054	365	0	0
6	56311343	56311343	A	C	SNP	ENSG00000266793	ENST00000578149	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-14103	NULL	0.002	-	-	-	no_errors	AL137008.1	Clone_based_ensembl_gene	ENSG00000266793	tier3	892	0	0	1274	1	0.0783699059561128	429	2	0.46189376443418
6	56488783	56488783	G	A	SNP	DST	ENST00000370754	human	ensembl	70_37	-1	known	intronic	c.4830+545	e35+545	0.001	-	-	-	no_errors	DST	HGNC	ENSG00000151914	tier3	469	0	0	604	2	0.328407224958949	245	0	0
6	56883052	56883052	A	C	SNP	BEND6	ENST00000370746	human	ensembl	70_37	+1	known	intronic	c.713-167	e5-167	0.000	-	-	-	no_errors	BEND6	HGNC	ENSG00000151917	tier3	1061	0	0	1603	4	0.248911014312383	496	3	0.601202404809619
6	56981082	56981082	T	G	SNP	ZNF451	ENST00000370706	human	ensembl	70_37	+1	known	intronic	c.187-8450	e4-8450	0.006	-	-	-	no_errors	ZNF451	HGNC	ENSG00000112200	tier4	1133	0	0	1708	4	0.233508464681845	391	2	0.508905852417303
6	57057769	57057769	A	G	SNP	RAB23	ENST00000317483	human	ensembl	70_37	-1	known	intronic	c.574+871	e5+871	0.002	-	-	-	no_errors	RAB23	HGNC	ENSG00000112210	tier3	1320	0	0	1765	2	0.113186191284663	523	0	0
6	57310405	57310405	A	C	SNP	PRIM2	ENST00000389488	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	PRIM2	HGNC	ENSG00000146143	tier3	1131	0	0	1495	2	0.133600534402138	627	1	0.158730158730159
6	57645829	57645829	C	A	SNP	ENSG00000231273	ENST00000456887	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45066	NULL	0.000	-	-	-	no_errors	RP11-343D24.2	Clone_based_vega_gene	ENSG00000231273	tier3	1234	0	0	1672	3	0.17910447761194	528	0	0
6	57745592	57745592	A	C	SNP	ENSG00000262828	ENST00000576904	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*48340	NULL	0.002	-	-	-	no_coding_region:pseudogene	RP11-325M4.2	Clone_based_vega_gene	ENSG00000262828	tier3	759	0	0	1010	2	0.197628458498024	362	0	0
6	58221863	58221863	T	C	SNP	ENSG00000236143	ENST00000440989	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-21511	NULL	0.088	-	-	-	no_errors	XXbac-BPG55C20.6	Clone_based_vega_gene	ENSG00000236143	tier4	921	0	0	1324	3	0.226073850791258	436	0	0
6	62346676	62346676	A	C	SNP	ENSG00000250686	ENST00000511849	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	RP1-240B8.3	Clone_based_vega_gene	ENSG00000250686	tier3	1532	0	0	2167	1	0.0461041954817888	552	2	0.36036036036036
6	63902643	63902643	C	T	SNP	FKBP1C	ENST00000370659	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18819	NULL	0.008	-	-	-	no_errors	FKBP1C	HGNC	ENSG00000198225	tier3	889	0	0	627	548	46.6382978723404	359	86	19.2393736017897
6	63985187	63985187	C	T	SNP	ENSG00000218520	ENST00000495602	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45172	NULL	0.045	-	-	-	no_coding_region:pseudogene	RP11-184C23.4	Clone_based_vega_gene	ENSG00000218520	tier4	85	0	0	77	35	31.25	57	0	0
6	64130172	64130172	G	C	SNP	ENSG00000218048	ENST00000402043	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20499	NULL	0.003	-	-	-	no_coding_region:pseudogene	RP3-407E4.4	Clone_based_vega_gene	ENSG00000218048	tier4	495	0	0	742	2	0.268817204301075	254	0	0
6	64850357	64850357	A	C	SNP	EYS	ENST00000370616	human	ensembl	70_37	-1	known	intronic	c.6425-58462	e29-58462	0.001	-	-	-	no_errors	EYS	HGNC	ENSG00000188107	tier4	386	0	0	474	3	0.628930817610063	194	0	0
6	64867399	64867399	C	T	SNP	EYS	ENST00000370616	human	ensembl	70_37	-1	known	intronic	c.6424+73086	e28+73086	0.020	-	-	-	no_errors	EYS	HGNC	ENSG00000188107	tier4	380	0	0	320	145	31.1827956989247	182	0	0
6	66494925	66494925	G	C	SNP	SLC25A51P1	ENST00000468432	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3385	NULL	0.000	-	-	-	no_coding_region:pseudogene	SLC25A51P1	HGNC	ENSG00000220483	tier3	1209	1	0.0826446280991736	1518	2	0.131406044678055	469	8	1.67364016736402
6	67698596	67698596	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1136	3	0.263157894736842	764	555	42.0454545454545	452	112	19.7530864197531
6	67929269	67929269	C	T	SNP	ENSG00000212229	ENST00000390927	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-8896	NULL	0.022	-	-	-	no_errors	SNORD65	RFAM	ENSG00000212229	tier4	1355	0	0	1574	180	10.2622576966933	616	0	0
6	68677475	68677475	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	999	0	0	1383	4	0.288392213410238	470	1	0.211864406779661
6	70011101	70011101	T	C	SNP	BAI3	ENST00000370598	human	ensembl	70_37	+1	known	intronic	c.2815-23663	e19-23663	0.003	-	-	-	no_errors	BAI3	HGNC	ENSG00000135298	tier4	702	0	0	934	8	0.848356309650053	274	3	1.0752688172043
6	70146955	70146955	T	G	SNP	BAI3	ENST00000370598	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*48172	NULL	0.000	-	-	-	no_errors	BAI3	HGNC	ENSG00000135298	tier3	1523	0	0	1962	2	0.10183299389002	697	0	0
6	70355208	70355208	C	A	SNP	LMBRD1	ENST00000370577	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*30842	NULL	0.004	-	-	-	no_errors	LMBRD1	HGNC	ENSG00000168216	tier3	1072	0	0	1510	3	0.198281559814937	435	3	0.684931506849315
6	70697308	70697308	C	T	SNP	COL19A1	ENST00000322773	human	ensembl	70_37	+1	known	intronic	c.1026+24546	e10+24546	0.000	-	-	-	no_errors	COL19A1	HGNC	ENSG00000082293	tier3	1019	0	0	681	585	46.1720599842147	465	70	13.0353817504655
6	71270090	71270090	C	G	SNP	FAM135A	ENST00000418814	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*466	NULL	1.000	-	-	-	no_errors	FAM135A	HGNC	ENSG00000082269	tier2	1105	0	0	1555	3	0.192554557124519	572	1	0.173913043478261
6	71587404	71587404	A	C	SNP	B3GAT2	ENST00000230053	human	ensembl	70_37	-1	known	intronic	c.737-15723	e3-15723	0.008	-	-	-	no_errors	B3GAT2	HGNC	ENSG00000112309	tier3	637	1	0.156494522691706	966	6	0.617283950617284	274	8	2.83687943262411
6	71974890	71974890	G	T	SNP	LOC100507367	ENST00000412751	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-154D6.1	Clone_based_vega_gene	ENSG00000232295	tier3	1720	0	0	2251	2	0.0887705281846427	767	2	0.260078023407022
6	72241742	72241742	A	T	SNP	ENSG00000212099	ENST00000390810	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*6845	NULL	0.001	-	-	-	no_errors	AL035467.1	Clone_based_ensembl_gene	ENSG00000212099	tier4	973	0	0	691	567	45.0715421303657	395	99	19.9596774193548
6	73581318	73581318	C	T	SNP	KCNQ5	ENST00000402622	human	ensembl	70_37	+1	known	intronic	c.399-132313	e2-132313	0.089	-	-	-	no_errors	KCNQ5	HGNC	ENSG00000185760	tier3	1221	1	0.0818330605564648	809	642	44.2453480358374	413	76	15.4158215010142
6	74890962	74890962	A	G	SNP	ENSG00000223786	ENST00000435946	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.017	-	-	-	no_errors	RP11-554D15.1	Clone_based_vega_gene	ENSG00000223786	tier3	823	0	0	1124	4	0.354609929078014	475	0	0
6	75341497	75341497	C	A	SNP	ENSG00000238052	ENST00000432484	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.017	-	-	-	no_errors	RP11-554D15.3	Clone_based_vega_gene	ENSG00000238052	tier3	751	0	0	1034	3	0.289296046287367	387	4	1.0230179028133
6	77066685	77066685	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	797	1	0.125156445556946	512	448	46.6666666666667	379	68	15.1447661469933
6	77425264	77425264	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1093	0	0	1419	2	0.140646976090014	449	0	0
6	79123738	79123738	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	915	0	0	1195	2	0.167084377610693	432	1	0.23094688221709
6	79196742	79196742	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	974	9	0.915564598168871	732	568	43.6923076923077	342	98	22.2727272727273
6	79437167	79437167	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1283	0	0	1507	133	8.1048141377209	586	0	0
6	84375804	84375804	T	G	SNP	SNAP91	ENST00000369694	human	ensembl	70_37	-1	known	intronic	c.131-504	e2-504	0.000	-	-	-	no_errors	SNAP91	HGNC	ENSG00000065609	tier3	1058	0	0	1496	3	0.200133422281521	468	1	0.212314225053079
6	85019902	85019902	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	756	0	0	464	387	45.4225352112676	299	82	21.3541666666667
6	85234707	85234707	G	A	SNP	ENSG00000231776	ENST00000454172	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP1-90L14.1	Clone_based_vega_gene	ENSG00000231776	tier3	801	0	0	529	444	45.6320657759507	324	77	19.2019950124688
6	85814073	85814073	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	942	0	0	1258	3	0.237341772151899	444	0	0
6	87544876	87544876	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	662	0	0	943	4	0.421940928270042	434	0	0
6	88097802	88097802	G	T	SNP	ENSG00000226524	ENST00000448282	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.729	-	-	-	no_errors	RP1-102H19.6	Clone_based_vega_gene	ENSG00000226524	tier3	742	0	0	500	427	46.0129310344828	229	80	25.7234726688103
6	88742036	88742036	G	T	SNP	SPACA1	ENST00000237201	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15588	NULL	0.527	-	-	-	no_errors	SPACA1	HGNC	ENSG00000118434	tier4	1006	0	0	1259	7	0.551181102362205	387	5	1.26903553299492
6	89222131	89222131	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	874	1	0.114155251141553	626	496	44.1674087266251	352	80	18.5185185185185
6	89705816	89705816	G	C	SNP	RNGTT	ENST00000369485	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-32688	NULL	0.114	-	-	-	no_errors	RNGTT	HGNC	ENSG00000111880	tier4	1005	0	0	804	659	45.0444292549556	438	110	20.0729927007299
6	89776421	89776421	T	G	SNP	PNRC1	ENST00000336032	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14193	NULL	0.009	-	-	-	no_errors	PNRC1	HGNC	ENSG00000146278	tier3	1238	0	0	1770	2	0.112803158488438	521	0	0
6	90341006	90341006	C	A	SNP	ANKRD6	ENST00000339746	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*283	NULL	0.014	-	-	-	no_errors	ANKRD6	HGNC	ENSG00000135299	tier3	657	1	0.151515151515152	961	1	0.103626943005181	312	9	2.80373831775701
6	90540375	90540375	A	G	SNP	CASP8AP2	ENST00000444163	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.003	-	-	-	no_errors	CASP8AP2	HGNC	ENSG00000118412	tier1	882	0	0	1303	1	0.0766283524904215	426	3	0.699300699300699
6	91318836	91318836	T	G	SNP	MAP3K7	ENST00000369329	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22234	NULL	0.011	-	-	-	no_errors	MAP3K7	HGNC	ENSG00000135341	tier3	1918	0	0	2656	1	0.0376364320662401	670	2	0.297619047619048
6	91642218	91642218	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	638	0	0	818	3	0.365408038976857	386	0	0
6	91960472	91960472	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1677	0	0	2149	2	0.0929368029739777	759	0	0
6	92388200	92388200	G	A	SNP	ENSG00000224944	ENST00000437768	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP3-433F14.3	Clone_based_vega_gene	ENSG00000224944	tier3	1166	0	0	782	619	44.119743406985	555	93	14.3518518518519
6	94359045	94359045	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	986	0	0	1294	2	0.15420200462606	444	0	0
6	94499302	94499302	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1202	1	0.0831255195344971	730	620	45.9259259259259	443	96	17.8107606679035
6	95574709	95574709	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1747	0	0	2565	16	0.619914761720263	629	131	17.2368421052632
6	95607231	95607231	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	885	0	0	1222	3	0.244498777506112	350	2	0.568181818181818
6	97054147	97054147	T	C	SNP	FHL5	ENST00000326771	human	ensembl	70_37	+1	known	intronic	c.504+200	e3+200	0.001	-	-	-	no_errors	FHL5	HGNC	ENSG00000112214	tier3	1208	0	0	1623	1	0.061576354679803	502	2	0.395256916996047
6	97282533	97282533	T	A	SNP	GPR63	ENST00000229955	human	ensembl	70_37	-1	known	intronic	c.1+2611	e0+2611	0.009	-	-	-	no_errors	GPR63	HGNC	ENSG00000112218	tier3	1121	0	0	1512	4	0.263852242744063	470	0	0
6	97471725	97471725	G	A	SNP	KLHL32	ENST00000369261	human	ensembl	70_37	+1	known	intronic	c.205-17643	e3-17643	0.000	-	-	-	no_errors	KLHL32	HGNC	ENSG00000186231	tier3	1316	0	0	1842	1	0.0542299349240781	608	74	10.8504398826979
6	97570461	97570461	T	G	SNP	KLHL32	ENST00000369261	human	ensembl	70_37	+1	known	intronic	c.1355-4819	e7-4819	0.001	-	-	-	no_errors	KLHL32	HGNC	ENSG00000186231	tier3	1630	0	0	2374	2	0.0841750841750842	611	3	0.488599348534202
6	98301274	98301274	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1562	0	0	1190	841	41.4081733136386	585	124	17.4894217207334
6	99036556	99036556	A	G	SNP	ENSG00000235504	ENST00000424521	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*30109	NULL	0.044	-	-	-	no_errors	RP3-453D15.1	Clone_based_vega_gene	ENSG00000235504	tier3	842	0	0	1024	2	0.194741966893866	380	1	0.26246719160105
6	99949536	99949536	T	C	SNP	USP45	ENST00000327681	human	ensembl	70_37	-1	known	intronic	c.478+2105	e4+2105	0.024	-	-	-	no_errors	USP45	HGNC	ENSG00000123552	tier4	1554	0	0	2167	2	0.0922083909635777	739	0	0
6	100246367	100246367	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1364	0	0	1732	5	0.287686996547756	518	2	0.383141762452107
6	100917942	100917942	C	G	SNP	SIM1	ENST00000262901	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-6598	NULL	0.005	-	-	-	no_errors	SIM1	HGNC	ENSG00000112246	tier3	966	0	0	569	450	44.1609421000981	335	75	17.9856115107914
6	101480764	101480764	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	350	0	0	456	3	0.65359477124183	213	2	0.930232558139535
6	101742666	101742666	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1664	0	0	2318	2	0.0862068965517241	619	1	0.161290322580645
6	101750797	101750797	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	986	0	0	1334	2	0.149700598802395	442	1	0.224719101123596
6	102800535	102800535	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	537	0	0	715	1	0.139664804469274	354	2	0.561797752808989
6	102928843	102928843	A	G	SNP	ENSG00000219757	ENST00000407792	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27176	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-793L10.1	Clone_based_vega_gene	ENSG00000219757	tier3	1273	0	0	1638	2	0.121951219512195	566	0	0
6	103160818	103160818	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1108	0	0	981	388	28.3418553688824	496	0	0
6	103594873	103594873	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1037	0	0	1325	23	1.70496664195701	393	86	17.9540709812109
6	103647273	103647273	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1210	0	0	1623	44	2.63947210557888	551	0	0
6	103796261	103796261	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	935	0	0	1287	1	0.077639751552795	421	3	0.707547169811321
6	103799663	103799663	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1167	0	0	823	608	42.4877707896576	494	99	16.6947723440135
6	104334019	104334019	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	755	0	0	1041	3	0.28735632183908	399	1	0.25
6	105543280	105543280	A	T	SNP	BVES-AS1	ENST00000369120	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-42418	NULL	0.141	-	-	-	no_errors	BVES-AS1	HGNC	ENSG00000203808	tier4	1966	0	0	2728	3	0.109729334308705	955	4	0.417101147028154
6	105968944	105968944	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	720	0	0	1067	4	0.373482726423903	384	0	0
6	106090848	106090848	C	A	SNP	ENSG00000237567	ENST00000423489	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10777	NULL	1.000	-	-	-	no_errors	RP3-359N14.2	Clone_based_vega_gene	ENSG00000237567	tier3	923	0	0	1354	2	0.147492625368732	452	0	0
6	107201700	107201700	A	G	SNP	LOC100422737	ENST00000415714	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP1-60O19.1	Clone_based_vega_gene	ENSG00000235142	tier3	713	0	0	1004	3	0.297914597815293	378	1	0.263852242744063
6	108267128	108267128	G	T	SNP	SEC63	ENST00000369002	human	ensembl	70_37	-1	known	intronic	c.124+11962	e1+11962	0.000	-	-	-	no_errors	SEC63	HGNC	ENSG00000025796	tier4	1475	0	0	2154	3	0.139082058414465	626	6	0.947867298578199
6	108267136	108267136	G	T	SNP	SEC63	ENST00000369002	human	ensembl	70_37	-1	known	intronic	c.124+11954	e1+11954	0.001	-	-	-	no_errors	SEC63	HGNC	ENSG00000025796	tier4	1327	0	0	1954	2	0.102197240674502	562	4	0.704225352112676
6	109123164	109123164	T	G	SNP	ARMC2	ENST00000392644	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-52307	NULL	0.005	-	-	-	no_errors	ARMC2	HGNC	ENSG00000118690	tier3	449	0	0	701	4	0.567375886524823	262	2	0.757575757575758
6	109566209	109566209	A	G	SNP	C6orf183	ENST00000534901	human	ensembl	70_37	+1	known	intronic	c.441+2700	e3+2700	0.007	-	-	-	no_errors	C6orf183	HGNC	ENSG00000243587	tier3	998	0	0	1525	2	0.125156445556946	552	3	0.516351118760757
6	111927319	111927319	C	T	SNP	TRAF3IP2	ENST00000340026	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-4902	NULL	0.000	-	-	-	no_errors	TRAF3IP2	HGNC	ENSG00000056972	tier3	462	2	0.431034482758621	395	303	43.4097421203438	248	48	16.1073825503356
6	112572028	112572028	C	T	SNP	LAMA4	ENST00000230538	human	ensembl	70_37	-1	known	intronic	c.195+3130	e1+3130	0.000	-	-	-	no_errors	LAMA4	HGNC	ENSG00000112769	tier3	811	0	0	1095	4	0.363636363636364	467	0	0
6	112984924	112984924	T	G	SNP	ENSG00000225580	ENST00000418595	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45842	NULL	0.016	-	-	-	no_coding_region:pseudogene	RP1-159M24.1	Clone_based_vega_gene	ENSG00000225580	tier4	389	0	0	544	2	0.366300366300366	213	1	0.467289719626168
6	114178246	114178246	A	C	SNP	MARCKS	ENST00000368635	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-676	NULL	0.227	-	-	-	no_errors	MARCKS	HGNC	ENSG00000155130	tier2	1025	0	0	1565	2	0.127632418634333	466	2	0.427350427350427
6	114526025	114526025	C	T	SNP	HS3ST5	ENST00000312719	human	ensembl	70_37	-1	known	intronic	c.1+23724	e0+23724	0.000	-	-	-	no_errors	HS3ST5	HGNC	ENSG00000249853	tier4	1109	0	0	747	696	48.2328482328482	435	93	17.6136363636364
6	114885652	114885652	C	T	SNP	ENSG00000226079	ENST00000435802	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28613	NULL	0.127	-	-	-	no_errors	RP3-399L15.2	Clone_based_vega_gene	ENSG00000226079	tier4	606	0	0	723	1	0.138121546961326	358	8	2.18579234972678
6	115028244	115028244	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1094	0	0	1209	141	10.4444444444444	545	0	0
6	116557891	116557891	T	G	SNP	NT5DC1	ENST00000319550	human	ensembl	70_37	+1	known	intronic	c.803-238	e9-238	0.060	-	-	-	no_errors	NT5DC1	HGNC	ENSG00000178425	tier4	966	0	0	718	611	45.974416854778	408	91	18.0914512922465
6	117026920	117026920	T	G	SNP	KPNA5	ENST00000356348	human	ensembl	70_37	+1	known	intronic	c.656+597	e7+597	0.001	-	-	-	no_errors	KPNA5	HGNC	ENSG00000196911	tier3	1111	0	0	1605	4	0.248447204968944	494	5	1.00200400801603
6	117050085	117050085	A	C	SNP	KPNA5	ENST00000356348	human	ensembl	70_37	+1	known	intronic	c.1254-641	e13-641	0.012	-	-	-	no_errors	KPNA5	HGNC	ENSG00000196911	tier3	1245	0	0	1835	2	0.108873162765378	605	2	0.329489291598023
6	118633343	118633343	T	G	SNP	SLC35F1	ENST00000360388	human	ensembl	70_37	+1	known	intronic	c.1003-1848	e8-1848	0.001	-	-	-	no_errors	SLC35F1	HGNC	ENSG00000196376	tier3	1324	0	0	1783	1	0.0560538116591928	560	2	0.355871886120996
6	118842316	118842316	T	G	SNP	CEP85L	ENST00000368488	human	ensembl	70_37	-1	known	intronic	c.1148+2649	e4+2649	0.001	-	-	-	no_errors	CEP85L	HGNC	ENSG00000111860	tier3	970	0	0	1328	3	0.225394440270473	382	0	0
6	120600803	120600803	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1266	0	0	1184	491	29.3134328358209	698	2	0.284900284900285
6	122075107	122075107	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1267	0	0	1782	4	0.223838836038053	577	3	0.517241379310345
6	122385498	122385498	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	472	0	0	368	412	52.8205128205128	206	72	25.8992805755396
6	122423513	122423513	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1945	1	0.0513610683102209	1339	1182	46.8675654242665	583	112	16.0688665710187
6	123438814	123438814	T	C	SNP	ENSG00000225504	ENST00000426074	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*44742	NULL	0.001	-	-	-	no_errors	RP11-160A10.2	Clone_based_vega_gene	ENSG00000225504	tier4	1402	1	0.0712250712250712	1084	795	42.309739222991	525	103	16.4012738853503
6	123786434	123786434	T	C	SNP	TRDN	ENST00000398178	human	ensembl	70_37	-1	known	intronic	c.854-306	e10-306	1.000	-	-	-	no_errors	TRDN	HGNC	ENSG00000186439	tier3	1035	0	0	650	649	49.9615088529638	422	68	13.8775510204082
6	124100233	124100233	A	C	SNP	NKAIN2	ENST00000368417	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25113	NULL	0.000	-	-	-	no_errors	NKAIN2	HGNC	ENSG00000188580	tier4	977	0	0	1304	2	0.153139356814701	518	0	0
6	124453168	124453168	T	G	SNP	NKAIN2	ENST00000368417	human	ensembl	70_37	+1	known	intronic	c.55-150983	e2-150983	0.098	-	-	-	no_errors	NKAIN2	HGNC	ENSG00000188580	tier4	420	0	0	492	3	0.606060606060606	241	1	0.413223140495868
6	125096447	125096447	C	A	SNP	NKAIN2	ENST00000368417	human	ensembl	70_37	+1	known	intronic	c.475-16038	e5-16038	0.000	-	-	-	no_errors	NKAIN2	HGNC	ENSG00000188580	tier3	699	0	0	981	3	0.303951367781155	306	2	0.641025641025641
6	125749376	125749376	G	T	SNP	ENSG00000228704	ENST00000430672	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-138M12.1	Clone_based_vega_gene	ENSG00000228704	tier3	444	0	0	591	8	1.3355592654424	239	0	0
6	126250461	126250461	C	T	SNP	NCOA7	ENST00000368357	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*544	NULL	0.987	-	-	-	no_errors	NCOA7	HGNC	ENSG00000111912	tier2	1073	0	0	1467	4	0.271739130434783	446	0	0
6	128518392	128518392	G	A	SNP	PTPRK	ENST00000368227	human	ensembl	70_37	-1	known	intronic	c.869-12522	e7-12522	0.008	-	-	-	no_errors	PTPRK	HGNC	ENSG00000152894	tier4	478	0	0	345	335	49.2647058823529	112	26	18.8405797101449
6	128835980	128835980	A	C	SNP	PTPRK	ENST00000368227	human	ensembl	70_37	-1	known	intronic	c.100+5424	e1+5424	0.000	-	-	-	no_errors	PTPRK	HGNC	ENSG00000152894	tier3	1196	0	0	1677	6	0.356294536817102	523	1	0.190839694656489
6	128902452	128902452	G	T	SNP	ENSG00000260527	ENST00000563385	human	ensembl	70_37	+1	putative	intronic	c.1-1485046	e1-1485046	0.002	-	-	-	overly_large_intron	RP11-73O6.4	Clone_based_vega_gene	ENSG00000260527	tier4	924	0	0	1204	3	0.248550124275062	352	1	0.28169014084507
6	129184595	129184595	C	T	SNP	ENSG00000260527	ENST00000563385	human	ensembl	70_37	+1	putative	intronic	c.1-1202903	e1-1202903	0.005	-	-	-	overly_large_intron	RP11-73O6.4	Clone_based_vega_gene	ENSG00000260527	tier4	558	0	0	406	324	44.3835616438356	263	34	11.4478114478114
6	130306553	130306553	G	T	SNP	ENSG00000260527	ENST00000563385	human	ensembl	70_37	+1	putative	intronic	c.1-80945	e1-80945	0.021	-	-	-	overly_large_intron	RP11-73O6.4	Clone_based_vega_gene	ENSG00000260527	tier4	297	0	0	383	2	0.519480519480519	153	3	1.92307692307692
6	132612448	132612448	A	C	SNP	MOXD1	ENST00000367963	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*5844	NULL	0.025	-	-	-	no_errors	MOXD1	HGNC	ENSG00000079931	tier3	1225	0	0	1847	3	0.162074554294976	481	1	0.20746887966805
6	133602909	133602909	T	C	SNP	EYA4	ENST00000355167	human	ensembl	70_37	+1	known	intronic	c.33+6958	e1+6958	0.004	-	-	-	no_errors	EYA4	HGNC	ENSG00000112319	tier4	980	0	0	1360	2	0.146842878120411	429	3	0.694444444444444
6	135069633	135069633	A	C	SNP	ENSG00000236389	ENST00000447557	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41146	NULL	0.564	-	-	-	no_errors	RP1-287H17.1	Clone_based_vega_gene	ENSG00000236389	tier3	1011	0	0	1578	3	0.189753320683112	471	4	0.842105263157895
6	135258717	135258717	A	G	SNP	ALDH8A1	ENST00000265605	human	ensembl	70_37	-1	known	intronic	c.592+1687	e4+1687	0.000	-	-	-	no_errors	ALDH8A1	HGNC	ENSG00000118514	tier3	510	0	0	656	4	0.605143721633888	234	2	0.847457627118644
6	135420752	135420752	T	C	SNP	HBS1L	ENST00000529882	human	ensembl	70_37	-1	putative	intronic	c.88+3314	e1+3314	0.001	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	HBS1L	HGNC	ENSG00000112339	tier3	1211	0	0	999	808	44.6902654867257	481	112	18.8870151770658
6	137840412	137840412	T	C	SNP	OLIG3	ENST00000367734	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25105	NULL	0.000	-	-	-	no_errors	OLIG3	HGNC	ENSG00000177468	tier3	1413	0	0	1893	3	0.158144438587243	565	0	0
6	138819686	138819686	T	A	SNP	NHSL1	ENST00000427025	human	ensembl	70_37	-1	known	intronic	c.203-2178	e2-2178	0.000	-	-	-	no_errors	NHSL1	HGNC	ENSG00000135540	tier3	1220	0	0	1612	1	0.0619962802231866	575	3	0.519031141868512
6	138875672	138875672	A	C	SNP	NHSL1	ENST00000427025	human	ensembl	70_37	-1	known	intronic	c.202+17175	e1+17175	0.001	-	-	-	no_errors	NHSL1	HGNC	ENSG00000135540	tier3	975	0	0	1383	4	0.288392213410238	503	0	0
6	139347137	139347137	G	C	SNP	REPS1	ENST00000450536	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38318	NULL	0.000	-	-	-	no_errors	REPS1	HGNC	ENSG00000135597	tier4	613	0	0	967	2	0.206398348813209	345	0	0
6	139919023	139919023	T	C	SNP	ATP5F1P6	ENST00000402768	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*16552	NULL	0.000	-	-	-	no_coding_region:pseudogene	ATP5F1P6	HGNC	ENSG00000219806	tier3	312	0	0	409	2	0.48661800486618	169	0	0
6	140720349	140720349	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1248	0	0	1481	201	11.9500594530321	504	0	0
6	144154904	144154904	T	C	SNP	ENSG00000257065	ENST00000545614	human	ensembl	70_37	+1	known	intronic	c.58-1884	e3-1884	0.006	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	RP3-468K18.5	Clone_based_vega_gene	ENSG00000257065	tier3	1242	0	0	1712	4	0.232828870779977	536	0	0
6	144354471	144354471	T	G	SNP	PLAGL1	ENST00000444202	human	ensembl	70_37	-1	known	intronic	c.1+31117	e0+31117	0.002	-	-	-	no_errors	PLAGL1	HGNC	ENSG00000118495	tier4	762	0	0	1134	4	0.351493848857645	406	0	0
6	145343132	145343132	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	891	0	0	1151	1	0.0865051903114187	425	6	1.37931034482759
6	146044674	146044674	A	C	SNP	EPM2A	ENST00000367519	human	ensembl	70_37	-1	known	intronic	c.301+11660	e1+11660	0.001	-	-	-	no_errors	EPM2A	HGNC	ENSG00000112425	tier3	1357	0	0	1935	3	0.154798761609907	537	1	0.185873605947955
6	146694389	146694389	A	C	SNP	GRM1	ENST00000282753	human	ensembl	70_37	+1	known	intronic	c.1603-13637	e6-13637	0.000	-	-	-	no_errors	GRM1	HGNC	ENSG00000152822	tier4	1853	0	0	2615	2	0.0763941940412529	508	2	0.392156862745098
6	149975194	149975194	T	G	SNP	KATNA1	ENST00000335647	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15511	NULL	0.005	-	-	-	no_errors	KATNA1	HGNC	ENSG00000186625	tier4	876	0	0	1468	2	0.135961930659415	499	0	0
6	152039163	152039163	A	C	SNP	ESR1	ENST00000440973	human	ensembl	70_37	+1	known	intronic	c.1+16023	e0+16023	0.000	-	-	-	no_errors	ESR1	HGNC	ENSG00000091831	tier3	1756	0	0	2713	3	0.110456553755523	658	2	0.303030303030303
6	152204908	152204908	T	G	SNP	ESR1	ENST00000206249	human	ensembl	70_37	+1	known	intronic	c.760+3002	e3+3002	0.001	-	-	-	no_errors	ESR1	HGNC	ENSG00000091831	tier4	596	0	0	869	2	0.229621125143513	393	4	1.00755667506297
6	152314455	152314455	C	T	SNP	ESR1	ENST00000206249	human	ensembl	70_37	+1	known	intronic	c.1097-18336	e5-18336	0.000	-	-	-	no_errors	ESR1	HGNC	ENSG00000091831	tier3	599	0	0	453	323	41.6237113402062	244	78	24.0740740740741
6	154544012	154544012	T	C	SNP	IPCEF1	ENST00000367220	human	ensembl	70_37	-1	known	intronic	c.320+292	e4+292	0.000	-	-	-	no_errors	IPCEF1	HGNC	ENSG00000074706	tier3	742	0	0	1041	3	0.28735632183908	343	0	0
6	155160623	155160623	A	C	SNP	TIAM2	ENST00000461783	human	ensembl	70_37	+1	known	intronic	c.1+6080	e0+6080	0.000	-	-	-	no_errors	TIAM2	HGNC	ENSG00000146426	tier3	1126	2	0.177304964539007	1650	3	0.181488203266788	530	10	1.8450184501845
6	156021165	156021165	G	T	SNP	ENSG00000238789	ENST00000458982	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-45005	NULL	0.001	-	-	-	no_errors	U7	RFAM	ENSG00000238789	tier4	1226	1	0.0814995925020375	1438	205	12.477175897748	560	2	0.354609929078014
6	156176725	156176725	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	617	0	0	828	1	0.120627261761158	291	3	1.02040816326531
6	158232311	158232311	G	T	SNP	SNX9	ENST00000392185	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12156	NULL	0.000	-	-	-	no_errors	SNX9	HGNC	ENSG00000130340	tier3	990	0	0	1452	4	0.274725274725275	384	5	1.2853470437018
6	158311354	158311354	C	A	SNP	SNX9	ENST00000392185	human	ensembl	70_37	+1	known	intronic	c.301-6505	e5-6505	0.008	-	-	-	no_errors	SNX9	HGNC	ENSG00000130340	tier3	633	0	0	794	2	0.251256281407035	331	0	0
6	160246291	160246291	A	C	SNP	TCP1	ENST00000321394	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-35791	NULL	0.010	-	-	-	no_errors	TCP1	HGNC	ENSG00000120438	tier3	925	0	0	1472	3	0.203389830508475	480	1	0.206611570247934
6	160536357	160536357	A	G	SNP	SLC22A1	ENST00000366963	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6611	NULL	0.010	-	-	-	no_errors	SLC22A1	HGNC	ENSG00000175003	tier4	974	0	0	1330	2	0.15015015015015	502	0	0
6	160956693	160956693	C	G	SNP	LPA	ENST00000316300	human	ensembl	70_37	-1	known	intronic	c.5842+2194	e37+2194	0.000	-	-	-	no_errors	LPA	HGNC	ENSG00000198670	tier4	1214	0	0	1635	2	0.122174709835064	647	2	0.307219662058372
6	161451993	161451993	T	G	SNP	MAP3K4	ENST00000392142	human	ensembl	70_37	+1	known	intronic	c.153-3298	e2-3298	0.002	-	-	-	no_errors	MAP3K4	HGNC	ENSG00000085511	tier3	1463	0	0	2017	4	0.197921820880752	540	2	0.3690036900369
6	162903877	162903877	A	G	SNP	PARK2	ENST00000366898	human	ensembl	70_37	-1	known	intronic	c.8-39372	e2-39372	0.000	-	-	-	no_errors	PARK2	HGNC	ENSG00000185345	tier4	1039	1	0.0959692898272553	781	650	45.3593859036985	467	119	20.3071672354949
6	163110248	163110248	T	C	SNP	PARK2	ENST00000366898	human	ensembl	70_37	-1	known	intronic	c.7+38446	e1+38446	1.000	-	-	-	no_errors	PARK2	HGNC	ENSG00000185345	tier3	810	2	0.246305418719212	610	502	45.1438848920863	342	73	17.5903614457831
6	163631669	163631669	G	C	SNP	PACRG	ENST00000337019	human	ensembl	70_37	+1	known	intronic	c.614-102142	e5-102142	0.000	-	-	-	no_errors	PACRG	HGNC	ENSG00000112530	tier4	1056	0	0	1336	2	0.149476831091181	492	0	0
6	164574398	164574398	T	G	SNP	ENSG00000230627	ENST00000451328	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43672	NULL	0.010	-	-	-	no_errors	RP1-155D22.1	Clone_based_vega_gene	ENSG00000230627	tier3	977	0	0	1302	2	0.153374233128834	440	3	0.677200902934537
6	165979629	165979629	G	A	SNP	PDE10A	ENST00000539869	human	ensembl	70_37	-1	known	intronic	c.68-22573	e2-22573	0.225	-	-	-	no_errors	PDE10A	HGNC	ENSG00000112541	tier4	819	0	0	1017	3	0.294117647058824	396	0	0
6	167185101	167185101	T	C	SNP	RPS6KA2	ENST00000510118	human	ensembl	70_37	-1	known	intronic	c.124-700	e3-700	0.000	-	-	-	no_errors	RPS6KA2	HGNC	ENSG00000071242	tier3	844	0	0	1000	2	0.199600798403194	363	1	0.274725274725275
6	168824338	168824338	G	A	SNP	SMOC2	ENST00000354536	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17713	NULL	0.001	-	-	-	no_errors	SMOC2	HGNC	ENSG00000112562	tier3	750	1	0.133155792276964	551	411	42.7234927234927	295	50	14.4927536231884
6	169577387	169577387	C	A	SNP	ENSG00000261039	ENST00000564830	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-417E7.2	Clone_based_vega_gene	ENSG00000261039	tier3	1446	0	0	1967	5	0.253549695740365	705	2	0.282885431400283
6	170073226	170073226	G	A	SNP	WDR27	ENST00000448612	human	ensembl	70_37	-1	known	intronic	c.190-734	e2-734	0.000	-	-	-	no_errors	WDR27	HGNC	ENSG00000184465	tier3	2448	0	0	3029	303	9.08545727136432	906	6	0.650759219088937
6	170482618	170482618	T	A	SNP	ENSG00000218716	ENST00000405880	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-32375	NULL	0.202	-	-	-	no_coding_region:pseudogene	RP11-302L19.2	Clone_based_vega_gene	ENSG00000218716	tier3	318	0	0	405	5	1.21654501216545	172	2	1.13636363636364
7	1055707	1055707	G	A	SNP	C7orf50	ENST00000357429	human	ensembl	70_37	-1	known	intronic	c.130-5928	e2-5928	0.001	-	-	-	no_errors	C7orf50	HGNC	ENSG00000146540	tier4	270	0	0	400	3	0.744416873449132	165	0	0
7	3366193	3366193	T	C	SNP	SDK1	ENST00000404826	human	ensembl	70_37	+1	known	intronic	c.298+24677	e1+24677	0.000	-	-	-	no_errors	SDK1	HGNC	ENSG00000146555	tier4	1281	0	0	1929	4	0.206932229694775	551	2	0.3584229390681
7	3447948	3447948	A	G	SNP	SDK1	ENST00000404826	human	ensembl	70_37	+1	known	intronic	c.298+106432	e1+106432	0.026	-	-	-	no_errors	SDK1	HGNC	ENSG00000146555	tier4	913	0	0	1303	3	0.229709035222052	402	2	0.495049504950495
7	4131670	4131670	C	A	SNP	SDK1	ENST00000404826	human	ensembl	70_37	+1	known	intronic	c.3324+12454	e22+12454	0.000	-	-	-	no_errors	SDK1	HGNC	ENSG00000146555	tier4	805	2	0.247831474597274	637	411	39.2175572519084	355	79	18.2027649769585
7	6036862	6036862	A	C	SNP	PMS2	ENST00000265849	human	ensembl	70_37	-1	known	intronic	c.803+95	e7+95	0.000	-	-	-	no_errors	PMS2	HGNC	ENSG00000122512	tier3	1046	0	0	1693	3	0.176574455562095	561	4	0.707964601769911
7	6412199	6412199	G	A	SNP	FAM220A	ENST00000313324	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41414	NULL	0.283	-	-	-	no_errors	FAM220A	HGNC	ENSG00000178397	tier4	930	0	0	1610	4	0.247524752475248	533	2	0.373831775700935
7	7522617	7522617	C	T	SNP	COL28A1	ENST00000399429	human	ensembl	70_37	-1	known	intronic	c.1165-5806	e13-5806	0.004	-	-	-	no_errors	COL28A1	HGNC	ENSG00000215018	tier4	1408	0	0	1803	31	1.68937329700272	529	117	18
7	8074058	8074058	G	A	SNP	GLCCI1	ENST00000223145	human	ensembl	70_37	+1	known	intronic	c.696+11859	e3+11859	0.237	-	-	-	no_errors	GLCCI1	HGNC	ENSG00000106415	tier4	725	0	0	974	3	0.306122448979592	369	0	0
7	9810043	9810043	G	A	SNP	ENSG00000234710	ENST00000447999	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*901	NULL	0.000	-	-	-	no_errors	AC060834.3	Clone_based_vega_gene	ENSG00000234710	tier4	1417	1	0.0704721634954193	929	622	40.1031592520954	559	84	13.0232558139535
7	10455725	10455725	G	A	SNP	ENSG00000229091	ENST00000419827	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35213	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC009945.3	Clone_based_vega_gene	ENSG00000229091	tier4	1911	0	0	1208	908	42.9111531190926	686	138	16.747572815534
7	10622000	10622000	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	669	0	0	427	324	43.1424766977364	294	56	16
7	11246441	11246441	G	T	SNP	ENSG00000230333	ENST00000428533	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.038	-	-	-	no_errors	AC004538.3	Clone_based_vega_gene	ENSG00000230333	tier2	355	0	0	490	2	0.40650406504065	197	0	0
7	11489360	11489360	A	C	SNP	THSD7A	ENST00000423059	human	ensembl	70_37	-1	known	intronic	c.2606-2309	e12-2309	0.000	-	-	-	no_errors	THSD7A	HGNC	ENSG00000005108	tier4	766	0	0	939	3	0.31813361611877	342	3	0.869565217391304
7	11692749	11692749	A	C	SNP	THSD7A	ENST00000423059	human	ensembl	70_37	-1	known	intronic	c.191-16161	e2-16161	0.000	-	-	-	no_errors	THSD7A	HGNC	ENSG00000005108	tier3	1213	0	0	1656	5	0.300842358604091	549	3	0.541516245487365
7	12069025	12069025	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1471	0	0	949	806	45.8736482640865	589	151	20.3230148048452
7	12109256	12109256	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	679	0	0	456	353	43.5802469135802	336	53	13.6246786632391
7	12346611	12346611	C	A	SNP	VWDE	ENST00000452576	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*47339	NULL	0.002	-	-	-	no_errors	VWDE	HGNC	ENSG00000146530	tier4	448	0	0	625	4	0.635930047694754	253	1	0.393700787401575
7	12396820	12396820	A	T	SNP	VWDE	ENST00000452576	human	ensembl	70_37	-1	known	intronic	c.3525+71	e17+71	0.001	-	-	-	no_errors	VWDE	HGNC	ENSG00000146530	tier3	860	0	0	1112	6	0.536193029490617	430	3	0.69284064665127
7	13069914	13069914	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1194	2	0.167224080267559	906	624	40.7843137254902	403	101	19.8428290766208
7	14092785	14092785	G	A	SNP	ENSG00000252374	ENST00000516565	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-42397	NULL	0.000	-	-	-	no_errors	Y_RNA	RFAM	ENSG00000252374	tier3	642	0	0	547	239	30.3684879288437	410	0	0
7	14933221	14933221	G	A	SNP	DGKB	ENST00000403951	human	ensembl	70_37	-1	known	intronic	c.1+9533	e0+9533	0.000	-	-	-	no_errors	DGKB	HGNC	ENSG00000136267	tier4	1026	1	0.0972762645914397	1055	134	11.2699747687132	542	0	0
7	15539767	15539767	T	C	SNP	AGMO	ENST00000342526	human	ensembl	70_37	-1	known	intronic	c.409+44630	e3+44630	0.001	-	-	-	no_errors	AGMO	HGNC	ENSG00000187546	tier3	1454	0	0	1063	810	43.2230522945571	522	135	20.5479452054795
7	15634784	15634784	A	G	SNP	AGMO	ENST00000342526	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33314	NULL	0.002	-	-	-	no_errors	AGMO	HGNC	ENSG00000187546	tier3	1877	0	0	2590	2	0.0771604938271605	722	0	0
7	16022057	16022057	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	333	0	0	439	2	0.452488687782805	170	2	1.16279069767442
7	16486173	16486173	G	T	SNP	ISPD	ENST00000407010	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25226	NULL	0.000	-	-	-	no_errors	ISPD	HGNC	ENSG00000214960	tier3	1012	0	0	1449	2	0.137741046831956	378	1	0.263852242744063
7	16630269	16630269	C	T	SNP	ENSG00000224280	ENST00000432006	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3887	NULL	0.035	-	-	-	no_coding_region:pseudogene	AC005014.5	Clone_based_vega_gene	ENSG00000224280	tier4	1158	1	0.0862812769628991	1110	526	32.1319486866219	633	0	0
7	16673758	16673758	G	T	SNP	ANKMY2	ENST00000306999	human	ensembl	70_37	-1	known	intronic	c.132+2258	e2+2258	0.001	-	-	-	no_errors	ANKMY2	HGNC	ENSG00000106524	tier4	513	0	0	773	2	0.258064516129032	232	0	0
7	16911197	16911197	T	G	SNP	AGR3	ENST00000310398	human	ensembl	70_37	-1	known	intronic	c.173+2207	e2+2207	0.003	-	-	-	no_errors	AGR3	HGNC	ENSG00000173467	tier4	882	0	0	1194	3	0.25062656641604	418	0	0
7	17681867	17681867	T	C	SNP	ENSG00000228675	ENST00000448898	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37306	NULL	0.001	-	-	-	no_errors	AC006482.1	Clone_based_vega_gene	ENSG00000228675	tier3	978	0	0	1471	3	0.203527815468114	406	3	0.733496332518337
7	18573007	18573007	A	T	SNP	HDAC9	ENST00000441542	human	ensembl	70_37	+1	known	intronic	c.22+37060	e1+37060	0.000	-	-	-	no_errors	HDAC9	HGNC	ENSG00000048052	tier4	1123	0	0	1577	2	0.126502213788741	715	0	0
7	18924952	18924952	A	C	SNP	HDAC9	ENST00000441542	human	ensembl	70_37	+1	known	intronic	c.2803+10733	e21+10733	0.002	-	-	-	no_errors	HDAC9	HGNC	ENSG00000048052	tier4	1071	0	0	1487	2	0.134318334452653	489	4	0.811359026369168
7	19094830	19094830	G	C	SNP	TWIST1	ENST00000443687	human	ensembl	70_37	-1	known	intronic	c.212+844	e1+844	0.004	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	TWIST1	HGNC	ENSG00000122691	tier4	3199	0	0	3914	590	13.0878438331854	919	2	0.216919739696312
7	19994684	19994684	A	G	SNP	ENSG00000243004	ENST00000415499	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.142	-	-	-	no_errors	AC005062.2	Clone_based_vega_gene	ENSG00000243004	tier4	1176	0	0	1597	3	0.1875	501	3	0.595238095238095
7	20763737	20763737	T	G	SNP	ABCB5	ENST00000258738	human	ensembl	70_37	+1	known	intronic	c.1290+895	e9+895	0.000	-	-	-	no_errors	ABCB5	HGNC	ENSG00000004846	tier4	1168	0	0	1723	3	0.173812282734647	544	2	0.364963503649635
7	21612769	21612769	C	T	SNP	DNAH11	ENST00000328843	human	ensembl	70_37	+1	known	intronic	c.1593+1178	e8+1178	0.000	-	-	-	no_errors	DNAH11	HGNC	ENSG00000105877	tier3	875	0	0	1021	107	9.48581560283688	461	2	0.431965442764579
7	22175915	22175915	G	A	SNP	RAPGEF5	ENST00000344041	human	ensembl	70_37	-1	known	intronic	c.1870-172	e20-172	0.999	-	-	-	no_errors	RAPGEF5	HGNC	ENSG00000136237	tier3	1425	0	0	963	885	47.8119935170178	525	138	20.7518796992481
7	23303714	23303714	T	A	SNP	GPNMB	ENST00000381990	human	ensembl	70_37	+1	known	intronic	c.1019-2386	e7-2386	0.163	-	-	-	no_errors	GPNMB	HGNC	ENSG00000136235	tier3	524	0	0	862	4	0.46029919447641	252	0	0
7	23930812	23930812	C	T	SNP	ENSG00000227930	ENST00000412828	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*511	NULL	0.038	-	-	-	no_errors	AC009508.1	Clone_based_vega_gene	ENSG00000227930	tier4	786	0	0	1048	2	0.19047619047619	374	6	1.57068062827225
7	24321572	24321572	A	G	SNP	NPY	ENST00000242152	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3288	NULL	0.000	-	-	-	no_errors	NPY	HGNC	ENSG00000122585	tier3	871	0	0	513	494	49.0079365079365	273	58	17.5226586102719
7	25104834	25104834	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	479	0	0	730	2	0.273224043715847	257	1	0.387596899224806
7	25934520	25934520	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	547	0	0	742	3	0.402684563758389	281	0	0
7	27497874	27497874	C	T	SNP	ENSG00000233830	ENST00000453115	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-27497874	NULL	0.378	-	-	-	no_coding_region:pseudogene	AC073150.4	Clone_based_vega_gene	ENSG00000233830	tier3	846	0	0	627	468	42.7397260273973	434	74	14.5098039215686
7	29617024	29617024	T	C	SNP	ENSG00000223813	ENST00000447171	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-13745	NULL	0.292	-	-	-	no_errors	AC007255.8	Clone_based_vega_gene	ENSG00000223813	tier4	822	0	0	1192	2	0.16750418760469	471	2	0.422832980972516
7	29790256	29790256	C	A	SNP	ENSG00000227855	ENST00000414296	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*8046	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC007276.5	Clone_based_vega_gene	ENSG00000227855	tier4	659	10	1.49476831091181	892	16	1.76017601760176	313	34	9.79827089337176
7	30501153	30501153	G	T	SNP	NOD1	ENST00000222823	human	ensembl	70_37	-1	known	intronic	c.1-1496	e1-1496	0.003	-	-	-	no_errors	NOD1	HGNC	ENSG00000106100	tier4	524	0	0	751	4	0.529801324503311	345	8	2.26628895184136
7	30941695	30941695	G	T	SNP	AQP1	ENST00000434909	human	ensembl	70_37	+1	known	intronic	c.264-9913	e4-9913	0.124	-	-	-	no_errors	AQP1	HGNC	ENSG00000240583	tier4	497	0	0	617	1	0.161550888529887	205	5	2.3696682464455
7	30982779	30982779	C	T	SNP	GHRHR	ENST00000466427	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.034	-	-	-	no_errors	GHRHR	HGNC	ENSG00000106128	tier4	467	0	0	632	3	0.47244094488189	237	2	0.836820083682008
7	34179891	34179891	C	G	SNP	BMPER	ENST00000297161	human	ensembl	70_37	+1	known	intronic	c.1746-2951	e14-2951	0.000	-	-	-	no_errors	BMPER	HGNC	ENSG00000164619	tier3	390	0	0	448	2	0.444444444444444	209	0	0
7	34368728	34368728	G	T	SNP	ENSG00000202431	ENST00000365561	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-31518	NULL	0.072	-	-	-	no_errors	U6	RFAM	ENSG00000202431	tier4	1629	0	0	2182	3	0.137299771167048	584	2	0.338983050847458
7	37946191	37946191	A	C	SNP	SFRP4	ENST00000436072	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*890	NULL	0.000	-	-	-	no_errors	SFRP4	HGNC	ENSG00000106483	tier3	1865	0	0	2549	2	0.0784006272050176	720	0	0
7	38190485	38190485	A	C	SNP	STARD3NL	ENST00000009041	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-56621	NULL	0.260	-	-	-	no_errors	STARD3NL	HGNC	ENSG00000010270	tier4	516	0	0	684	2	0.291545189504373	216	2	0.917431192660551
7	38541129	38541129	A	C	SNP	AMPH	ENST00000356264	human	ensembl	70_37	-1	known	intronic	c.205+2121	e3+2121	0.001	-	-	-	no_errors	AMPH	HGNC	ENSG00000078053	tier4	853	0	0	1129	3	0.265017667844523	443	0	0
7	38700311	38700311	G	T	SNP	AMPH	ENST00000356264	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-29360	NULL	0.102	-	-	-	no_errors	AMPH	HGNC	ENSG00000078053	tier4	212	0	0	240	1	0.4149377593361	147	5	3.28947368421053
7	39946214	39946214	T	C	SNP	CDK13	ENST00000181839	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44027	NULL	0.334	-	-	-	no_errors	CDK13	HGNC	ENSG00000065883	tier4	567	0	0	935	2	0.213447171824973	410	1	0.24330900243309
7	40572129	40572129	G	C	SNP	C7orf10	ENST00000309930	human	ensembl	70_37	+1	known	intronic	c.1110+36144	e12+36144	0.000	-	-	-	no_errors	C7orf10	HGNC	ENSG00000175600	tier4	869	6	0.684150513112885	1007	99	8.94308943089431	515	3	0.579150579150579
7	40624168	40624168	T	C	SNP	C7orf10	ENST00000309930	human	ensembl	70_37	+1	known	intronic	c.1110+88183	e12+88183	0.998	-	-	-	no_errors	C7orf10	HGNC	ENSG00000175600	tier4	1038	0	0	1562	2	0.127877237851662	484	3	0.616016427104723
7	40662702	40662702	T	C	SNP	C7orf10	ENST00000309930	human	ensembl	70_37	+1	known	intronic	c.1111-60953	e13-60953	0.028	-	-	-	no_errors	C7orf10	HGNC	ENSG00000175600	tier3	449	0	0	633	3	0.471698113207547	230	3	1.28755364806867
7	40760419	40760419	C	T	SNP	C7orf10	ENST00000309930	human	ensembl	70_37	+1	known	intronic	c.1189-28614	e14-28614	0.000	-	-	-	no_errors	C7orf10	HGNC	ENSG00000175600	tier3	1218	0	0	1387	141	9.22774869109948	544	0	0
7	40898727	40898727	G	A	SNP	C7orf10	ENST00000309930	human	ensembl	70_37	+1	known	intronic	c.1253-1188	e15-1188	0.007	-	-	-	no_errors	C7orf10	HGNC	ENSG00000175600	tier3	1009	1	0.099009900990099	607	570	48.428207306712	420	111	20.7476635514019
7	41751059	41751059	A	G	SNP	INHBA-AS1	ENST00000422822	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	INHBA-AS1	HGNC	ENSG00000224116	tier1	1368	0	0	1723	19	1.09070034443169	515	0	0
7	42456417	42456417	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1006	0	0	700	541	43.593875906527	457	112	19.4782608695652
7	45694546	45694546	T	C	SNP	ADCY1	ENST00000297323	human	ensembl	70_37	+1	known	intronic	c.1149-2780	e6-2780	0.004	-	-	-	no_errors	ADCY1	HGNC	ENSG00000164742	tier3	512	0	0	686	2	0.290697674418605	240	0	0
7	46111739	46111739	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1018	1	0.098135426889107	679	539	44.2528735632184	396	111	21.8074656188605
7	47348762	47348762	G	T	SNP	TNS3	ENST00000311160	human	ensembl	70_37	-1	known	intronic	c.2651-4161	e16-4161	0.003	-	-	-	no_errors	TNS3	HGNC	ENSG00000136205	tier4	702	0	0	971	2	0.205549845837616	310	5	1.58730158730159
7	47877199	47877199	A	C	SNP	PKD1L1	ENST00000289672	human	ensembl	70_37	-1	known	intronic	c.5770-507	e37-507	0.001	-	-	-	no_errors	PKD1L1	HGNC	ENSG00000158683	tier4	668	0	0	969	2	0.205973223480947	301	0	0
7	48275942	48275942	T	C	SNP	ABCA13	ENST00000435803	human	ensembl	70_37	+1	known	intronic	c.897+2194	e8+2194	0.114	-	-	-	no_errors	ABCA13	HGNC	ENSG00000179869	tier4	569	0	0	714	12	1.65289256198347	245	57	18.8741721854305
7	48661645	48661645	C	T	SNP	ABCA13	ENST00000435803	human	ensembl	70_37	+1	known	intronic	c.14837+6672	e59+6672	0.001	-	-	-	no_errors	ABCA13	HGNC	ENSG00000179869	tier3	987	0	0	640	545	45.8754208754209	362	71	16.2471395881007
7	49463356	49463356	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1622	2	0.1230012300123	2093	68	3.14378178455848	742	2	0.264550264550265
7	49596634	49596634	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1421	0	0	1041	742	41.5686274509804	555	95	14.5705521472393
7	51109969	51109969	C	A	SNP	COBL	ENST00000395542	human	ensembl	70_37	-1	known	intronic	c.1652+1111	e10+1111	0.001	-	-	-	no_errors	COBL	HGNC	ENSG00000106078	tier4	1049	0	0	1433	3	0.208478109798471	535	0	0
7	54073653	54073653	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1741	1	0.0574052812858783	1257	932	42.5765189584285	701	161	18.677494199536
7	54330860	54330860	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1019	1	0.0978473581213307	654	569	46.4869281045752	446	70	13.5658914728682
7	56082953	56082953	T	C	SNP	PSPH	ENST00000275605	human	ensembl	70_37	-1	known	intronic	c.422-89	e4-89	0.001	-	-	-	no_errors	PSPH	HGNC	ENSG00000146733	tier3	987	0	0	742	658	46.9329529243937	467	101	17.719298245614
7	57413104	57413104	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	803	0	0	542	461	45.9163346613546	296	97	24.6819338422392
7	57511945	57511945	C	T	SNP	ZNF716	ENST00000420713	human	ensembl	70_37	+1	known	intronic	c.39+1912	e1+1912	0.005	-	-	-	no_errors	ZNF716	HGNC	ENSG00000182111	tier3	733	1	0.136239782016349	448	361	44.6229913473424	401	99	19.8
7	57802164	57802164	A	G	SNP	ENSG00000232161	ENST00000442554	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-28508	NULL	0.392	-	-	-	no_coding_region:pseudogene	RP11-548K12.7	Clone_based_vega_gene	ENSG00000232161	tier4	1007	0	0	1283	2	0.15552099533437	616	0	0
7	57819084	57819084	C	A	SNP	ENSG00000232161	ENST00000442554	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11588	NULL	0.085	-	-	-	no_coding_region:pseudogene	RP11-548K12.7	Clone_based_vega_gene	ENSG00000232161	tier4	1047	0	0	707	485	40.6879194630872	453	111	19.6808510638298
7	57825090	57825090	T	A	SNP	ENSG00000232161	ENST00000442554	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5582	NULL	0.139	-	-	-	no_coding_region:pseudogene	RP11-548K12.7	Clone_based_vega_gene	ENSG00000232161	tier4	676	0	0	836	4	0.476190476190476	317	0	0
7	57947391	57947391	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	156	0	0	170	2	1.15606936416185	52	0	0
7	57947412	57947412	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	160	0	0	167	7	4.02298850574713	53	2	3.50877192982456
7	57958249	57958249	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1494	0	0	1924	6	0.310719834282755	668	4	0.591715976331361
7	57959833	57959833	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	835	0	0	924	3	0.323275862068966	449	1	0.222222222222222
7	57961682	57961682	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1637	0	0	2031	2	0.098135426889107	800	2	0.247524752475248
7	57965575	57965575	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	415	0	0	478	3	0.623700623700624	136	4	2.85714285714286
7	57990827	57990827	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	833	0	0	943	3	0.316455696202532	475	2	0.419287211740042
7	57990829	57990829	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	850	0	0	976	2	0.204498977505112	484	4	0.819672131147541
7	57995084	57995084	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	131	0	0	190	5	2.52525252525253	97	0	0
7	58039606	58039606	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	264	0	0	330	2	0.588235294117647	111	0	0
7	61080486	61080486	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	626	0	0	913	4	0.436205016357688	478	2	0.416666666666667
7	61088546	61088546	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	372	0	0	491	2	0.404040404040404	210	0	0
7	61088610	61088610	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	279	0	0	370	4	1.06951871657754	145	0	0
7	61088611	61088611	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	276	0	0	362	5	1.36239782016349	141	0	0
7	61824764	61824764	T	G	SNP	ENSG00000233918	ENST00000454392	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*2578	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-715L17.1	Clone_based_vega_gene	ENSG00000233918	tier3	2939	0	0	3790	3	0.079093066174532	1715	0	0
7	61979224	61979224	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	162	0	0	233	5	2.10084033613445	49	0	0
7	61980733	61980733	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2779	0	0	4074	3	0.0735654732712114	1080	0	0
7	61980738	61980738	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2708	0	0	3961	2	0.0504413619167718	1067	2	0.186741363211951
7	61982264	61982264	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	181	0	0	261	2	0.760456273764259	80	0	0
7	61983237	61983237	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	588	0	0	888	2	0.224719101123596	473	0	0
7	62028690	62028690	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	554	0	0	825	4	0.482509047044632	352	0	0
7	64820416	64820416	G	A	SNP	ZNF92	ENST00000328747	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18495	NULL	0.026	-	-	-	no_errors	ZNF92	HGNC	ENSG00000146757	tier3	1178	0	0	780	603	43.5693641618497	442	93	17.3831775700935
7	65049487	65049487	A	G	SNP	ENSG00000235421	ENST00000439631	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-29830	NULL	0.902	-	-	-	no_coding_region:pseudogene	RP11-667F9.1	Clone_based_vega_gene	ENSG00000235421	tier3	1085	25	2.25225225225225	1291	30	2.27100681302044	487	52	9.64749536178108
7	66548451	66548451	T	G	SNP	TYW1	ENST00000359626	human	ensembl	70_37	+1	known	missense	c.1309	p.W437G	1.000	pfam_rSAM	pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	-	no_errors	TYW1	HGNC	ENSG00000198874	tier1	964	0	0	1524	2	0.131061598951507	480	0	0
7	68713568	68713568	G	A	SNP	ENSG00000225718	ENST00000435148	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-3P22.2	Clone_based_vega_gene	ENSG00000225718	tier4	1060	0	0	805	597	42.551674982181	528	130	19.7568389057751
7	70199494	70199494	T	C	SNP	AUTS2	ENST00000342771	human	ensembl	70_37	+1	known	intronic	c.743-28362	e7-28362	0.000	-	-	-	no_errors	AUTS2	HGNC	ENSG00000158321	tier3	1897	0	0	2320	4	0.171895143962183	943	0	0
7	70930099	70930099	C	T	SNP	WBSCR17	ENST00000333538	human	ensembl	70_37	+1	known	intronic	c.962+44008	e5+44008	0.498	-	-	-	no_errors	WBSCR17	HGNC	ENSG00000185274	tier4	946	1	0.105485232067511	705	618	46.7120181405896	497	132	20.9856915739269
7	72029345	72029345	A	G	SNP	TYW1B	ENST00000438125	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.278	-	-	-	no_errors	TYW1B	HGNC	ENSG00000254184	tier4	867	0	0	1100	2	0.181323662737987	533	0	0
7	72073933	72073933	C	T	SNP	TYW1B	ENST00000438125	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	TYW1B	HGNC	ENSG00000254184	tier4	1088	0	0	868	738	45.9526774595268	484	93	16.0068846815835
7	72293539	72293539	C	T	SNP	ENSG00000266569	ENST00000585039	human	ensembl	70_37	-1	novel	rna	NULL	NULL	0.364	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000266569	tier1	396	0	0	615	3	0.485436893203883	245	0	0
7	72293552	72293552	G	A	SNP	ENSG00000266569	ENST00000585039	human	ensembl	70_37	-1	novel	rna	NULL	NULL	0.374	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000266569	tier1	338	0	0	524	3	0.568181818181818	205	0	0
7	72690316	72690316	T	G	SNP	GTF2IRD2P1	ENST00000449689	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.199	-	-	-	no_coding_region:pseudogene	GTF2IRD2P1	HGNC	ENSG00000214544	tier4	1784	0	0	3261	3	0.0918554807103491	747	0	0
7	72753514	72753514	G	T	SNP	FKBP6	ENST00000252037	human	ensembl	70_37	+1	known	intronic	c.589-1126	e6-1126	0.187	-	-	-	no_errors	FKBP6	HGNC	ENSG00000077800	tier4	1017	0	0	1536	2	0.130039011703511	664	0	0
7	73336984	73336984	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1130	0	0	1877	3	0.159404888416578	330	0	0
7	73664820	73664820	G	A	SNP	RFC2	ENST00000055077	human	ensembl	70_37	-1	known	intronic	c.184-710	e3-710	0.051	-	-	-	no_errors	RFC2	HGNC	ENSG00000049541	tier3	729	0	0	610	422	40.8518877057115	345	60	14.8148148148148
7	74048202	74048202	T	G	SNP	GTF2I	ENST00000324896	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-55261	NULL	0.005	-	-	-	no_errors	GTF2I	HGNC	ENSG00000077809	tier3	628	0	0	1003	2	0.199004975124378	349	5	1.41242937853107
7	76490944	76490944	T	C	SNP	UPK3B	ENST00000419923	human	ensembl	70_37	+1	known	intronic	c.963-157197	e5-157197	0.000	-	-	-	no_errors	UPK3B	HGNC	ENSG00000243566	tier3	937	0	0	1205	1	0.0828500414250207	501	28	5.27306967984934
7	77379331	77379331	T	G	SNP	RSBN1L	ENST00000334955	human	ensembl	70_37	+1	known	missense	c.1294	p.L432V	0.992	NULL	NULL	-	no_errors	RSBN1L	HGNC	ENSG00000187257	tier1	1587	0	0	2339	6	0.255645504899872	815	0	0
7	77811911	77811911	T	C	SNP	MAGI2	ENST00000354212	human	ensembl	70_37	-1	known	intronic	c.2311+3035	e13+3035	0.000	-	-	-	no_errors	MAGI2	HGNC	ENSG00000187391	tier3	702	0	0	1013	4	0.393313667649951	425	0	0
7	77870568	77870568	C	T	SNP	MAGI2	ENST00000354212	human	ensembl	70_37	-1	known	intronic	c.2047+14692	e10+14692	0.003	-	-	-	no_errors	MAGI2	HGNC	ENSG00000187391	tier4	645	1	0.154798761609907	385	346	47.2677595628415	276	86	23.7569060773481
7	78286189	78286189	G	A	SNP	MAGI2	ENST00000354212	human	ensembl	70_37	-1	known	intronic	c.419-29634	e3-29634	0.002	-	-	-	no_errors	MAGI2	HGNC	ENSG00000187391	tier4	1798	0	0	2370	2	0.0842815002107038	542	0	0
7	78476686	78476686	T	G	SNP	MAGI2	ENST00000354212	human	ensembl	70_37	-1	known	intronic	c.418+159720	e2+159720	0.000	-	-	-	no_errors	MAGI2	HGNC	ENSG00000187391	tier3	1063	0	0	1325	3	0.225903614457831	486	3	0.613496932515337
7	78610101	78610101	G	T	SNP	MAGI2	ENST00000354212	human	ensembl	70_37	-1	known	intronic	c.418+26305	e2+26305	0.004	-	-	-	no_errors	MAGI2	HGNC	ENSG00000187391	tier4	972	0	0	1258	2	0.158730158730159	551	0	0
7	79167889	79167889	C	T	SNP	ENSG00000226285	ENST00000416748	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*5338	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC091813.2	Clone_based_vega_gene	ENSG00000226285	tier3	1294	0	0	840	626	42.6721199727335	492	118	19.281045751634
7	80042502	80042502	T	C	SNP	CD36	ENST00000435819	human	ensembl	70_37	+1	known	intronic	c.1+43405	e0+43405	0.007	-	-	-	no_errors	CD36	HGNC	ENSG00000135218	tier3	1319	0	0	1015	842	45.3175457481163	592	132	18.232044198895
7	80360721	80360721	T	G	SNP	SEMA3C	ENST00000544525	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*13489	NULL	0.008	-	-	-	no_errors	SEMA3C	HGNC	ENSG00000075223	tier4	714	0	0	1185	3	0.252312867956266	416	0	0
7	81394558	81394558	C	A	SNP	HGF	ENST00000222390	human	ensembl	70_37	-1	known	intronic	c.89-2370	e2-2370	0.001	-	-	-	no_errors	HGF	HGNC	ENSG00000019991	tier3	729	0	0	906	1	0.110253583241455	263	2	0.754716981132075
7	81660912	81660912	T	G	SNP	CACNA2D1	ENST00000356253	human	ensembl	70_37	-1	known	intronic	c.1143+1201	e12+1201	0.001	-	-	-	no_errors	CACNA2D1	HGNC	ENSG00000153956	tier3	1370	0	0	1965	2	0.101677681748856	586	1	0.170357751277683
7	82077224	82077224	T	G	SNP	CACNA2D1	ENST00000356253	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4449	NULL	0.000	-	-	-	no_errors	CACNA2D1	HGNC	ENSG00000153956	tier3	1231	0	0	1787	2	0.111794298490777	600	1	0.165562913907285
7	83140496	83140496	T	C	SNP	SEMA3E	ENST00000307792	human	ensembl	70_37	-1	known	intronic	c.116-20906	e2-20906	0.001	-	-	-	no_errors	SEMA3E	HGNC	ENSG00000170381	tier3	953	0	0	1258	2	0.158730158730159	439	4	0.898876404494382
7	83952234	83952234	T	G	SNP	SEMA3A	ENST00000471474	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	SEMA3A	HGNC	ENSG00000075213	tier4	1023	0	0	1435	5	0.347222222222222	477	6	1.24223602484472
7	85638923	85638923	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1092	1	0.091324200913242	1308	25	1.87406296851574	440	94	17.6029962546816
7	87576232	87576232	C	G	SNP	ADAM22	ENST00000265727	human	ensembl	70_37	+1	known	intronic	c.246+11731	e2+11731	0.006	-	-	-	no_errors	ADAM22	HGNC	ENSG00000008277	tier4	268	0	0	346	2	0.574712643678161	231	0	0
7	88228602	88228602	C	G	SNP	ENSG00000211518	ENST00000390184	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-41233	NULL	0.000	-	-	-	no_errors	AC006988.1	Clone_based_ensembl_gene	ENSG00000211518	tier3	1169	0	0	1621	2	0.123076923076923	494	0	0
7	90856353	90856353	A	C	SNP	FZD1	ENST00000287934	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37843	NULL	0.002	-	-	-	no_errors	FZD1	HGNC	ENSG00000157240	tier4	639	0	0	771	2	0.258397932816537	288	0	0
7	90931782	90931782	T	G	SNP	ENSG00000243144	ENST00000418395	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9973	NULL	0.000	-	-	-	no_errors	RP11-115N4.1	Clone_based_vega_gene	ENSG00000243144	tier3	1138	0	0	1567	2	0.127388535031847	478	0	0
7	91093914	91093914	C	T	SNP	ENSG00000243144	ENST00000418395	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-115N4.1	Clone_based_vega_gene	ENSG00000243144	tier3	839	2	0.237812128418549	826	223	21.2583412774071	461	0	0
7	92421032	92421032	A	G	SNP	CDK6	ENST00000265734	human	ensembl	70_37	-1	known	intronic	c.234-16887	e2-16887	0.000	-	-	-	no_errors	CDK6	HGNC	ENSG00000105810	tier4	1228	0	0	1820	2	0.109709270433352	487	0	0
7	92576855	92576855	T	G	SNP	ENSG00000237819	ENST00000419668	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*30367	NULL	0.004	-	-	-	no_errors	AC002454.1	Clone_based_vega_gene	ENSG00000237819	tier3	1654	1	0.0604229607250755	1190	983	45.2369995398067	590	122	17.0868347338936
7	92693522	92693522	T	C	SNP	SAMD9	ENST00000379958	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*37119	NULL	0.171	-	-	-	no_errors	SAMD9	HGNC	ENSG00000205413	tier4	977	0	0	1401	3	0.213675213675214	517	3	0.576923076923077
7	92955877	92955877	A	C	SNP	CCDC132	ENST00000305866	human	ensembl	70_37	+1	known	intronic	c.1977+2833	e21+2833	0.913	-	-	-	no_errors	CCDC132	HGNC	ENSG00000004766	tier3	1270	0	0	1720	1	0.0581057524694945	546	7	1.26582278481013
7	94472044	94472044	G	A	SNP	ENSG00000222220	ENST00000410288	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*40920	NULL	0.009	-	-	-	no_errors	7SK	RFAM	ENSG00000222220	tier4	1048	0	0	1299	177	11.9837508463101	477	2	0.417536534446764
7	94499923	94499923	G	A	SNP	PPP1R9A	ENST00000289495	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39503	NULL	0.358	-	-	-	no_errors	PPP1R9A	HGNC	ENSG00000158528	tier4	787	0	0	532	523	49.5734597156398	439	105	19.1605839416058
7	95041948	95041948	T	A	SNP	PON2	ENST00000536183	human	ensembl	70_37	-1	known	intronic	c.265-159	e4-159	0.000	-	-	-	no_errors	PON2	HGNC	ENSG00000105854	tier3	1384	0	0	1975	5	0.252397778899546	726	2	0.274725274725275
7	95228392	95228392	T	G	SNP	ENSG00000231170	ENST00000416502	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	AC002451.3	Clone_based_vega_gene	ENSG00000231170	tier3	1301	0	0	1792	4	0.22271714922049	587	3	0.508474576271186
7	96014142	96014142	G	A	SNP	ENSG00000207115	ENST00000384387	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*43584	NULL	0.031	-	-	-	no_errors	U6	RFAM	ENSG00000207115	tier3	782	0	0	595	477	44.4547996272134	336	47	12.2715404699739
7	96876555	96876555	A	T	SNP	ENSG00000224475	ENST00000429766	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45760	NULL	0.084	-	-	-	no_coding_region:pseudogene	AC073900.4	Clone_based_vega_gene	ENSG00000224475	tier4	827	0	0	1131	2	0.176522506619594	452	0	0
7	96915350	96915350	C	T	SNP	ENSG00000221192	ENST00000408265	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*5476	NULL	0.001	-	-	-	no_errors	AC004745.1	Clone_based_ensembl_gene	ENSG00000221192	tier3	975	0	0	1420	2	0.140646976090014	412	0	0
7	98126007	98126007	T	G	SNP	ENSG00000223402	ENST00000441836	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17470	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC074121.4	Clone_based_vega_gene	ENSG00000223402	tier3	1336	2	0.149476831091181	1072	988	47.9146459747818	599	108	15.2758132956153
7	99678944	99678944	T	C	SNP	ZNF3	ENST00000299667	human	ensembl	70_37	-1	known	intronic	c.1+314	e0+314	0.274	-	-	-	no_errors	ZNF3	HGNC	ENSG00000166526	tier2	588	0	0	479	424	46.9545957918051	296	82	21.6931216931217
7	101245545	101245545	G	A	SNP	LOC100506527	ENST00000434537	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33289	NULL	0.001	-	-	-	no_errors	RP5-1059M17.1	Clone_based_vega_gene	ENSG00000233123	tier4	405	0	0	363	272	42.8346456692913	207	60	22.4719101123595
7	102916673	102916673	T	G	SNP	DPY19L2P2	ENST00000312132	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	DPY19L2P2	HGNC	ENSG00000170629	tier4	2423	0	0	3789	4	0.105401844532279	886	6	0.671140939597315
7	103669857	103669857	A	G	SNP	RELN	ENST00000424685	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40054	NULL	0.953	-	-	-	no_errors	RELN	HGNC	ENSG00000189056	tier4	1543	0	0	1946	57	2.84431137724551	773	0	0
7	104252146	104252146	A	T	SNP	LHFPL3	ENST00000535008	human	ensembl	70_37	+1	known	intronic	c.461-11305	e3-11305	0.003	-	-	-	no_errors	LHFPL3	HGNC	ENSG00000187416	tier3	941	0	0	621	552	47.0588235294118	424	79	15.7057654075547
7	104270590	104270590	A	G	SNP	LHFPL3	ENST00000535008	human	ensembl	70_37	+1	known	intronic	c.481+7119	e3+7119	0.004	-	-	-	no_errors	LHFPL3	HGNC	ENSG00000187416	tier3	1435	0	0	2049	2	0.0975134080936129	598	0	0
7	104913864	104913864	C	T	SNP	SRPK2	ENST00000393651	human	ensembl	70_37	-1	known	intronic	c.72-69632	e3-69632	0.000	-	-	-	no_errors	SRPK2	HGNC	ENSG00000135250	tier4	1169	0	0	1642	4	0.242865816636308	573	2	0.346620450606586
7	105556842	105556842	C	T	SNP	CDHR3	ENST00000488386	human	ensembl	70_37	+1	known	intronic	c.1+39139	e0+39139	0.263	-	-	-	no_errors	CDHR3	HGNC	ENSG00000128536	tier4	827	0	0	563	485	46.2786259541985	344	64	15.6862745098039
7	106769426	106769426	A	C	SNP	PRKAR2B	ENST00000265717	human	ensembl	70_37	+1	known	intronic	c.480+686	e4+686	0.000	-	-	-	no_errors	PRKAR2B	HGNC	ENSG00000005249	tier3	699	0	0	1031	2	0.193610842207164	359	0	0
7	106829625	106829625	A	G	SNP	HBP1	ENST00000222574	human	ensembl	70_37	+1	known	intronic	c.766-112	e6-112	0.001	-	-	-	no_errors	HBP1	HGNC	ENSG00000105856	tier4	998	0	0	1431	2	0.139372822299652	467	0	0
7	107640641	107640641	C	A	SNP	LAMB1	ENST00000222399	human	ensembl	70_37	-1	known	intronic	c.213+1362	e2+1362	1.000	-	-	-	no_errors	LAMB1	HGNC	ENSG00000091136	tier3	993	0	0	1412	8	0.562983814215341	530	8	1.48423005565863
7	108239615	108239615	T	C	SNP	ENSG00000225647	ENST00000440208	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	1.000	-	-	-	no_errors	AC005487.2	Clone_based_vega_gene	ENSG00000225647	tier2	1042	0	0	1405	2	0.142146410803127	453	1	0.220264317180617
7	108342835	108342835	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1501	0	0	1972	3	0.151898734177215	605	0	0
7	108414730	108414730	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	848	0	0	1107	3	0.27027027027027	410	2	0.480769230769231
7	108538136	108538136	A	G	SNP	ENSG00000229603	ENST00000413406	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11374	NULL	0.028	-	-	-	no_errors	AC004014.3	Clone_based_vega_gene	ENSG00000229603	tier4	3424	0	0	4786	2	0.0417623721027354	1096	0	0
7	109121280	109121280	G	T	SNP	ENSG00000234273	ENST00000412410	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*40758	NULL	0.000	-	-	-	no_errors	AC073071.1	Clone_based_vega_gene	ENSG00000234273	tier3	1491	0	0	1946	4	0.205023065094823	616	2	0.323624595469256
7	109799233	109799233	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	696	0	0	403	439	52.0759193357058	239	82	25.0764525993884
7	110075135	110075135	A	G	SNP	ENSG00000226965	ENST00000435466	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC003088.1	Clone_based_vega_gene	ENSG00000226965	tier3	969	2	0.205973223480947	680	594	46.6248037676609	417	130	23.6794171220401
7	110315017	110315017	T	C	SNP	IMMP2L	ENST00000331762	human	ensembl	70_37	-1	known	intronic	c.409-11240	e5-11240	0.001	-	-	-	no_errors	IMMP2L	HGNC	ENSG00000184903	tier3	671	0	0	821	4	0.484848484848485	301	0	0
7	111421244	111421244	A	C	SNP	DOCK4	ENST00000428084	human	ensembl	70_37	-1	known	intronic	c.3585+1676	e35+1676	0.000	-	-	-	no_errors	DOCK4	HGNC	ENSG00000128512	tier3	1833	0	0	2531	3	0.118389897395422	906	0	0
7	112382699	112382699	A	G	SNP	MIPEPP1	ENST00000413533	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3951	NULL	0.001	-	-	-	no_coding_region:pseudogene	MIPEPP1	HGNC	ENSG00000225358	tier3	784	0	0	985	3	0.303643724696356	425	0	0
7	114779276	114779276	T	G	SNP	ENSG00000233607	ENST00000419883	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	AC068610.5	Clone_based_vega_gene	ENSG00000233607	tier3	1410	0	0	2059	2	0.0970402717127608	612	2	0.325732899022801
7	116895701	116895701	C	G	SNP	ENSG00000238202	ENST00000436097	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45214	NULL	0.001	-	-	-	no_errors	AC002465.2	Clone_based_vega_gene	ENSG00000238202	tier4	480	0	0	576	2	0.345423143350604	191	3	1.54639175257732
7	117790191	117790191	A	G	SNP	NAA38	ENST00000249299	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-34087	NULL	0.000	-	-	-	no_errors	NAA38	HGNC	ENSG00000128534	tier4	1190	0	0	1763	3	0.169875424688562	446	1	0.223713646532438
7	117906914	117906914	A	C	SNP	ANKRD7	ENST00000357099	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*26899	NULL	0.024	-	-	-	no_errors	ANKRD7	HGNC	ENSG00000106013	tier3	1451	0	0	2069	3	0.144648023143684	536	1	0.186219739292365
7	118622322	118622322	A	C	SNP	ENSG00000230520	ENST00000429245	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31009	NULL	0.019	-	-	-	no_coding_region:pseudogene	RP11-533K11.1	Clone_based_vega_gene	ENSG00000230520	tier4	1051	0	0	1400	3	0.213827512473272	440	3	0.677200902934537
7	119303951	119303951	A	G	SNP	ENSG00000225546	ENST00000431071	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*40659	NULL	0.271	-	-	-	no_errors	RP11-328J2.1	Clone_based_vega_gene	ENSG00000225546	tier4	1074	0	0	1639	2	0.12187690432663	569	0	0
7	119579151	119579151	G	A	SNP	ENSG00000225546	ENST00000426413	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31722	NULL	0.021	-	-	-	no_errors	RP11-328J2.1	Clone_based_vega_gene	ENSG00000225546	tier4	1201	0	0	1428	3	0.209643605870021	447	0	0
7	119760003	119760003	A	T	SNP	ENSG00000233969	ENST00000421825	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-48396	NULL	0.215	-	-	-	no_errors	RP5-1006K12.1	Clone_based_vega_gene	ENSG00000233969	tier4	1234	0	0	919	696	43.0959752321981	510	119	18.8589540412044
7	120069032	120069032	C	T	SNP	KCND2	ENST00000331113	human	ensembl	70_37	+1	known	intronic	c.1115+153231	e1+153231	0.000	-	-	-	no_errors	KCND2	HGNC	ENSG00000184408	tier3	1549	1	0.0645161290322581	1058	945	47.1556886227545	666	151	18.4371184371184
7	120292425	120292425	G	A	SNP	KCND2	ENST00000331113	human	ensembl	70_37	+1	known	intronic	c.1116-80532	e2-80532	0.001	-	-	-	no_errors	KCND2	HGNC	ENSG00000184408	tier4	984	0	0	1377	1	0.0725163161711385	396	107	21.272365805169
7	120482395	120482395	C	A	SNP	TSPAN12	ENST00000222747	human	ensembl	70_37	-1	known	intronic	c.67-2232	e2-2232	0.004	-	-	-	no_errors	TSPAN12	HGNC	ENSG00000106025	tier4	1110	0	0	1352	132	8.87096774193548	529	6	1.11317254174397
7	121653945	121653945	T	G	SNP	PTPRZ1	ENST00000393386	human	ensembl	70_37	+1	known	splice_site	c.4843+2	e12+2	1.000	-	-	-	no_errors	PTPRZ1	HGNC	ENSG00000106278	tier1	1120	0	0	1671	4	0.238663484486874	502	2	0.396825396825397
7	122230051	122230051	C	T	SNP	CADPS2	ENST00000449022	human	ensembl	70_37	-1	known	intronic	c.1224-8707	e7-8707	0.002	-	-	-	no_errors	CADPS2	HGNC	ENSG00000081803	tier3	1212	0	0	1652	27	1.60618679357525	512	116	18.4126984126984
7	124524738	124524738	T	C	SNP	POT1	ENST00000357628	human	ensembl	70_37	-1	known	intronic	c.124+7582	e2+7582	0.001	-	-	-	no_errors	POT1	HGNC	ENSG00000128513	tier3	643	0	0	828	2	0.240963855421687	299	0	0
7	125721583	125721583	T	A	SNP	ENSG00000221418	ENST00000408491	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*41229	NULL	0.001	-	-	-	no_errors	AC003968.1	Clone_based_ensembl_gene	ENSG00000221418	tier3	967	0	0	597	489	45.0276243093923	397	73	15.4661016949153
7	125753455	125753455	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1144	0	0	809	667	45.189701897019	427	67	13.5627530364372
7	125863403	125863403	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	196	0	0	221	2	0.896860986547085	153	0	0
7	126682420	126682420	T	G	SNP	GRM8	ENST00000339582	human	ensembl	70_37	-1	known	intronic	c.727+64130	e2+64130	0.000	-	-	-	no_errors	GRM8	HGNC	ENSG00000179603	tier4	848	0	0	1108	2	0.18018018018018	407	0	0
7	126741396	126741396	G	A	SNP	GRM8	ENST00000339582	human	ensembl	70_37	-1	known	intronic	c.727+5154	e2+5154	0.496	-	-	-	no_errors	GRM8	HGNC	ENSG00000179603	tier3	928	1	0.107181136120043	634	465	42.3111919927207	417	78	15.7575757575758
7	127459606	127459606	T	G	SNP	SND1	ENST00000354725	human	ensembl	70_37	+1	known	intronic	c.1242+11979	e11+11979	0.000	-	-	-	no_errors	SND1	HGNC	ENSG00000197157	tier3	566	0	0	904	5	0.55005500550055	331	5	1.4792899408284
7	129227660	129227660	A	C	SNP	NRF1	ENST00000223190	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-69532	NULL	0.000	-	-	-	no_errors	NRF1	HGNC	ENSG00000106459	tier3	1592	0	0	2514	5	0.198491464867011	628	1	0.158982511923688
7	129418746	129418746	C	A	SNP	MIR96	ENST00000362288	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4137	NULL	0.000	-	-	-	no_errors	MIR96	HGNC	ENSG00000199158	tier2	404	0	0	312	258	45.2631578947368	197	55	21.8253968253968
7	129941102	129941102	T	G	SNP	CPA4	ENST00000222482	human	ensembl	70_37	+1	known	intronic	c.384+348	e4+348	0.123	-	-	-	no_errors	CPA4	HGNC	ENSG00000128510	tier3	1528	0	0	2168	2	0.0921658986175115	763	0	0
7	130100897	130100897	G	T	SNP	CEP41	ENST00000223208	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-20090	NULL	0.003	-	-	-	no_errors	CEP41	HGNC	ENSG00000106477	tier3	785	0	0	1041	1	0.0958772770853308	407	3	0.731707317073171
7	130738533	130738533	C	T	SNP	ENSG00000231721	ENST00000423414	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC058791.2	Clone_based_vega_gene	ENSG00000231721	tier3	966	0	0	1438	3	0.208188757807078	414	1	0.239234449760766
7	131865146	131865146	A	C	SNP	PLXNA4	ENST00000321063	human	ensembl	70_37	-1	known	intronic	c.3639+199	e18+199	0.002	-	-	-	no_errors	PLXNA4	HGNC	ENSG00000221866	tier2	368	0	0	379	3	0.785340314136126	186	2	1.06382978723404
7	132422683	132422683	T	C	SNP	LOC100506937	ENST00000436379	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21047	NULL	0.001	-	-	-	no_errors	AC009365.4	Clone_based_vega_gene	ENSG00000225881	tier4	664	0	0	888	2	0.224719101123596	329	3	0.903614457831325
7	133482118	133482118	T	A	SNP	EXOC4	ENST00000253861	human	ensembl	70_37	+1	known	intronic	c.1515-19960	e11-19960	0.001	-	-	-	no_errors	EXOC4	HGNC	ENSG00000131558	tier3	1385	0	0	1831	1	0.0545851528384279	676	4	0.587371512481645
7	133706712	133706712	G	A	SNP	EXOC4	ENST00000253861	human	ensembl	70_37	+1	known	intronic	c.2687+14124	e17+14124	0.567	-	-	-	no_errors	EXOC4	HGNC	ENSG00000131558	tier3	923	0	0	1230	1	0.08110300081103	360	3	0.817438692098093
7	133921547	133921547	A	G	SNP	LRGUK	ENST00000285928	human	ensembl	70_37	+1	known	intronic	c.1984-10761	e17-10761	0.026	-	-	-	no_errors	LRGUK	HGNC	ENSG00000155530	tier3	980	0	0	1427	2	0.139958012596221	446	1	0.223713646532438
7	135488100	135488100	A	C	SNP	ENSG00000222219	ENST00000410287	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-5243	NULL	0.004	-	-	-	no_errors	AC091736.1	Clone_based_ensembl_gene	ENSG00000222219	tier4	740	0	0	1091	1	0.0915750915750916	447	5	1.10619469026549
7	135708304	135708304	A	C	SNP	MTPN	ENST00000393085	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-46456	NULL	0.023	-	-	-	no_errors	MTPN	HGNC	ENSG00000105887	tier3	365	0	0	515	3	0.579150579150579	185	2	1.06951871657754
7	136312561	136312561	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1538	0	0	1995	3	0.15015015015015	552	1	0.180831826401447
7	136456684	136456684	A	G	SNP	LOC349160	ENST00000586239	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.205	-	-	-	no_errors	AC009264.1	Clone_based_vega_gene	ENSG00000234352	tier4	1091	0	0	1510	2	0.132187706543291	342	0	0
7	136839138	136839138	C	G	SNP	LOC349160	ENST00000425981	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	AC009264.1	Clone_based_vega_gene	ENSG00000234352	tier4	922	0	0	1227	2	0.16273393002441	367	0	0
7	137320248	137320248	C	T	SNP	DGKI	ENST00000424189	human	ensembl	70_37	-1	known	intronic	c.804+9970	e6+9970	0.003	-	-	-	no_errors	DGKI	HGNC	ENSG00000157680	tier4	1340	1	0.0744601638123604	1025	803	43.9277899343545	560	134	19.3083573487032
7	138643159	138643159	G	A	SNP	KIAA1549	ENST00000422774	human	ensembl	70_37	-1	known	intronic	c.187+22670	e1+22670	0.000	-	-	-	no_errors	KIAA1549	HGNC	ENSG00000122778	tier3	928	1	0.107411385606874	700	584	45.4828660436137	406	96	19.009900990099
7	138648863	138648863	G	A	SNP	KIAA1549	ENST00000422774	human	ensembl	70_37	-1	known	intronic	c.187+16966	e1+16966	0.000	-	-	-	no_errors	KIAA1549	HGNC	ENSG00000122778	tier4	843	0	0	1093	121	9.94248151191454	505	4	0.785854616895874
7	139211302	139211302	G	A	SNP	CLEC2L	ENST00000422142	human	ensembl	70_37	+1	known	intronic	c.190+2439	e1+2439	0.000	-	-	-	no_errors	CLEC2L	HGNC	ENSG00000236279	tier3	695	0	0	524	396	43.0434782608696	359	79	18.0365296803653
7	139898583	139898583	C	T	SNP	JHDM1D	ENST00000397560	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-21846	NULL	0.012	-	-	-	no_errors	JHDM1D	HGNC	ENSG00000006459	tier4	883	0	0	1277	4	0.312256049960968	489	0	0
7	139933774	139933774	A	C	SNP	ENSG00000199283	ENST00000362413	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-7896	NULL	0.040	-	-	-	no_errors	U1	RFAM	ENSG00000199283	tier4	1359	0	0	2071	1	0.0482625482625483	479	4	0.824742268041237
7	140805451	140805451	G	A	SNP	TMEM178B	ENST00000565468	human	ensembl	70_37	+1	putative	intronic	c.382+30959	e1+30959	0.002	-	-	-	no_errors	TMEM178B	HGNC	ENSG00000261115	tier3	996	1	0.100200400801603	1292	33	2.49056603773585	478	92	16.0278745644599
7	141737859	141737859	A	C	SNP	MGAM	ENST00000549489	human	ensembl	70_37	+1	known	intronic	c.2232-472	e18-472	0.011	-	-	-	no_errors	MGAM	HGNC	ENSG00000257335	tier4	471	0	0	572	2	0.348432055749129	227	0	0
7	141921985	141921985	C	T	SNP	ENSG00000257743	ENST00000550494	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*13943	NULL	0.034	-	-	-	no_errors	RP11-1220K2.2	Clone_based_vega_gene	ENSG00000257743	tier3	963	0	0	1315	4	0.303030303030303	444	1	0.223713646532438
7	141982273	141982273	T	G	SNP	PRSS58	ENST00000547058	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24746	NULL	0.002	-	-	-	no_errors	PRSS58	HGNC	ENSG00000258223	tier3	394	0	0	514	2	0.387596899224806	247	0	0
7	142229921	142229921	C	T	SNP	TRBV11-2	ENST00000471935	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31852	NULL	0.000	-	-	-	no_errors	TRBV11-2	HGNC	ENSG00000241657	tier4	641	0	0	756	116	13.302752293578	316	0	0
7	142340068	142340068	T	G	SNP	TRBV23-1	ENST00000390396	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13400	NULL	0.002	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	TRBV23-1	HGNC	ENSG00000211749	tier2	781	0	0	950	3	0.314795383001049	360	0	0
7	142929247	142929247	A	C	SNP	GSTK1	ENST00000479303	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31360	NULL	0.000	-	-	-	no_errors	GSTK1	HGNC	ENSG00000197448	tier4	1277	0	0	1761	3	0.170068027210884	598	2	0.33112582781457
7	143971216	143971216	T	C	SNP	ENSG00000204959	ENST00000378112	human	ensembl	70_37	-1	known	splice_site	c.NULL	NULL	0.986	-	-	-	no_coding_region:pseudogene	RP4-798C17.5	Clone_based_vega_gene	ENSG00000204959	tier1	2774	0	0	3665	3	0.0817884405670665	1581	1	0.0632111251580278
7	144165611	144165611	G	T	SNP	TPK1	ENST00000360057	human	ensembl	70_37	-1	known	intronic	c.614-14855	e8-14855	0.000	-	-	-	no_errors	TPK1	HGNC	ENSG00000196511	tier3	1261	0	0	1665	3	0.179856115107914	624	0	0
7	144669652	144669652	C	T	SNP	ENSG00000214035	ENST00000423226	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37402	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC073310.4	Clone_based_vega_gene	ENSG00000214035	tier4	1704	1	0.0586166471277843	1132	979	46.3322290582111	658	133	16.5628891656289
7	145291290	145291290	C	T	SNP	ENSG00000231839	ENST00000456901	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*9380	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC073055.2	Clone_based_vega_gene	ENSG00000231839	tier4	1082	1	0.0923361034164358	775	660	45.9610027855153	502	62	10.9154929577465
7	145400569	145400569	T	G	SNP	ENSG00000230746	ENST00000422084	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22107	NULL	0.028	-	-	-	no_errors	AC006007.1	Clone_based_vega_gene	ENSG00000230746	tier4	1264	0	0	1477	3	0.202702702702703	537	0	0
7	145641890	145641890	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	751	4	0.529801324503311	575	409	41.5650406504065	352	66	15.7142857142857
7	146074680	146074680	A	C	SNP	CNTNAP2	ENST00000361727	human	ensembl	70_37	+1	known	intronic	c.97+260615	e1+260615	0.000	-	-	-	no_errors	CNTNAP2	HGNC	ENSG00000174469	tier4	628	0	0	988	1	0.101112234580384	380	4	1.04166666666667
7	146415470	146415470	G	T	SNP	CNTNAP2	ENST00000361727	human	ensembl	70_37	+1	known	intronic	c.98-55893	e2-55893	0.000	-	-	-	no_errors	CNTNAP2	HGNC	ENSG00000174469	tier3	637	0	0	878	1	0.113765642775882	296	3	0.996677740863787
7	148057889	148057889	C	T	SNP	CNTNAP2	ENST00000361727	human	ensembl	70_37	+1	known	intronic	c.3476-22852	e22-22852	0.000	-	-	-	no_errors	CNTNAP2	HGNC	ENSG00000174469	tier3	918	0	0	1235	6	0.482703137570394	474	0	0
7	148832304	148832304	A	C	SNP	ZNF398	ENST00000426851	human	ensembl	70_37	+1	known	intronic	c.1+6268	e0+6268	0.311	-	-	-	no_errors	ZNF398	HGNC	ENSG00000197024	tier4	771	0	0	1180	2	0.169061707523246	442	0	0
7	151205499	151205499	G	T	SNP	RHEB	ENST00000262187	human	ensembl	70_37	-1	known	intronic	c.52+11047	e1+11047	0.000	-	-	-	no_errors	RHEB	HGNC	ENSG00000106615	tier4	477	0	0	602	1	0.165562913907285	274	8	2.83687943262411
7	152717706	152717706	T	A	SNP	ENSG00000265275	ENST00000584395	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-36116	NULL	0.005	-	-	-	no_errors	AF104455.1	Clone_based_ensembl_gene	ENSG00000265275	tier4	993	0	0	696	522	42.8571428571429	389	99	20.2868852459016
7	153097875	153097875	C	T	SNP	ENSG00000234722	ENST00000454441	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	AC073236.3	Clone_based_vega_gene	ENSG00000234722	tier3	635	0	0	393	383	49.3556701030928	262	82	23.8372093023256
7	153576127	153576127	T	C	SNP	DPP6	ENST00000404039	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-8642	NULL	0.001	-	-	-	no_errors	DPP6	HGNC	ENSG00000130226	tier3	1883	0	0	2644	2	0.0755572346052134	866	0	0
7	154078137	154078137	G	A	SNP	DPP6	ENST00000377770	human	ensembl	70_37	+1	known	intronic	c.244-65162	e2-65162	0.000	-	-	-	no_errors	DPP6	HGNC	ENSG00000130226	tier3	569	0	0	361	351	49.2977528089888	222	62	21.830985915493
7	154487935	154487935	C	T	SNP	DPP6	ENST00000377770	human	ensembl	70_37	+1	known	intronic	c.762+26784	e7+26784	0.000	-	-	-	no_errors	DPP6	HGNC	ENSG00000130226	tier3	632	2	0.315457413249211	441	377	46.031746031746	273	49	15.1234567901235
7	154596117	154596117	G	T	SNP	DPP6	ENST00000377770	human	ensembl	70_37	+1	known	intronic	c.1499+452	e14+452	0.000	-	-	-	no_errors	DPP6	HGNC	ENSG00000130226	tier4	1341	1	0.0745156482861401	970	764	44.0345821325648	490	104	17.5084175084175
7	155780486	155780486	A	C	SNP	ENSG00000204876	ENST00000377722	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*22890	NULL	0.001	-	-	-	no_errors	AC021218.2	Clone_based_vega_gene	ENSG00000204876	tier3	456	0	0	534	4	0.743494423791822	265	1	0.37593984962406
7	156554868	156554868	C	T	SNP	LMBR1	ENST00000354505	human	ensembl	70_37	-1	known	missense	c.644	p.R215H	1.000	pfam_LMBR1-like_membr_prot	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	-	no_errors	LMBR1	HGNC	ENSG00000105983	tier1	180	0	0	138	0	0	174	11	5.95
7	157379503	157379503	C	T	SNP	PTPRN2	ENST00000404321	human	ensembl	70_37	-1	known	intronic	c.2565+8427	e17+8427	0.082	-	-	-	no_errors	PTPRN2	HGNC	ENSG00000155093	tier3	617	1	0.161812297734628	510	211	29.2649098474341	296	0	0
7	157492638	157492638	A	T	SNP	PTPRN2	ENST00000404321	human	ensembl	70_37	-1	known	intronic	c.1858-17009	e13-17009	0.000	-	-	-	no_errors	PTPRN2	HGNC	ENSG00000155093	tier3	773	1	0.129198966408269	484	374	43.5897435897436	361	61	14.3867924528302
7	158716322	158716322	G	A	SNP	WDR60	ENST00000407559	human	ensembl	70_37	+1	known	missense	c.2155	p.G719S	0.998	superfamily_WD40_repeat_dom,smart_WD40_repeat	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	-	no_errors	WDR60	HGNC	ENSG00000126870	tier1	404	0	0	336	13	3.72	335	0	0
7	158716322	158716322	G	A	SNP	WDR60	ENST00000407559	human	ensembl	70_37	+1	known	missense	c.2155	p.G719S	0.998	superfamily_WD40_repeat_dom,smart_WD40_repeat	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	-	no_errors	WDR60	HGNC	ENSG00000126870	tier1	504	0	0	668	13	1.90895741556534	295	0	0
8	1097540	1097540	T	C	SNP	ENSG00000254269	ENST00000520524	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	CTD-2281E23.2	Clone_based_vega_gene	ENSG00000254269	tier4	375	0	0	426	7	1.61662817551963	185	2	1.06951871657754
8	1857049	1857049	G	T	SNP	ARHGEF10	ENST00000398564	human	ensembl	70_37	+1	known	intronic	c.2043-412	e18-412	0.000	-	-	-	no_errors	ARHGEF10	HGNC	ENSG00000104728	tier3	752	0	0	1021	2	0.195503421309873	502	0	0
8	3826822	3826822	T	G	SNP	CSMD1	ENST00000520002	human	ensembl	70_37	-1	known	intronic	c.818+28603	e5+28603	0.001	-	-	-	no_errors	CSMD1	HGNC	ENSG00000183117	tier3	665	0	0	780	2	0.255427841634738	330	3	0.900900900900901
8	4541186	4541186	T	C	SNP	CSMD1	ENST00000520002	human	ensembl	70_37	-1	known	intronic	c.86-46106	e2-46106	0.000	-	-	-	no_errors	CSMD1	HGNC	ENSG00000183117	tier3	709	0	0	898	3	0.332963374028857	322	0	0
8	4877789	4877789	T	G	SNP	CSMD1	ENST00000520002	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25851	NULL	0.000	-	-	-	no_errors	CSMD1	HGNC	ENSG00000183117	tier3	872	0	0	1305	2	0.152905198776758	419	0	0
8	5077084	5077084	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	927	0	0	1147	2	0.174064403829417	406	2	0.48780487804878
8	6591820	6591820	C	T	SNP	AGPAT5	ENST00000285518	human	ensembl	70_37	+1	known	intronic	c.495+1649	e4+1649	0.000	-	-	-	no_errors	AGPAT5	HGNC	ENSG00000155189	tier4	1439	0	0	1870	3	0.16008537886873	696	0	0
8	6677323	6677323	A	C	SNP	XKR5	ENST00000405979	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	XKR5	HGNC	ENSG00000186530	tier3	728	0	0	996	3	0.3003003003003	349	0	0
8	9830435	9830435	T	G	SNP	ENSG00000238496	ENST00000458859	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-41102	NULL	0.747	-	-	-	no_errors	snoU13	RFAM	ENSG00000238496	tier3	678	0	0	934	2	0.213219616204691	319	0	0
8	10685440	10685440	A	C	SNP	SOX7	ENST00000553390	human	ensembl	70_37	-1	known	intronic	c.302-1686	e5-1686	0.023	-	-	-	no_errors	SOX7	HGNC	ENSG00000171056	tier4	1132	0	0	1443	5	0.345303867403315	599	0	0
8	10729327	10729327	T	G	SNP	SOX7	ENST00000553390	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-32061	NULL	0.000	-	-	-	no_errors	SOX7	HGNC	ENSG00000171056	tier3	971	0	0	1275	2	0.156494522691706	412	0	0
8	11858946	11858946	T	G	SNP	DEFB136	ENST00000382209	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26838	NULL	0.112	-	-	-	no_errors	DEFB136	HGNC	ENSG00000205884	tier3	1239	0	0	1791	2	0.11154489682097	556	2	0.3584229390681
8	12720914	12720914	A	G	SNP	ENSG00000264463	ENST00000584104	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-42433	NULL	0.018	-	-	-	no_errors	AC090133.1	Clone_based_ensembl_gene	ENSG00000264463	tier3	1181	0	0	935	774	45.2896430661205	550	132	19.3548387096774
8	16342052	16342052	T	G	SNP	MSR1	ENST00000518343	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	MSR1	HGNC	ENSG00000038945	tier4	846	0	0	1159	2	0.172265288544358	431	0	0
8	17132119	17132119	A	C	SNP	VPS37A	ENST00000324849	human	ensembl	70_37	+1	known	intronic	c.417-123	e5-123	0.000	-	-	-	no_errors	VPS37A	HGNC	ENSG00000155975	tier3	842	0	0	1173	2	0.170068027210884	369	4	1.07238605898123
8	18153047	18153047	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	765	0	0	1050	2	0.189933523266857	365	3	0.806451612903226
8	18228228	18228228	G	C	SNP	AACP	ENST00000523491	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*18228228	NULL	1.000	-	-	-	no_coding_region:pseudogene	AACP	HGNC	ENSG00000253937	tier3	1115	0	0	1414	39	2.68410185822436	536	0	0
8	21236805	21236805	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1118	1	0.0892857142857143	742	602	44.7583643122677	463	84	15.3564899451554
8	22485165	22485165	A	C	SNP	BIN3	ENST00000276416	human	ensembl	70_37	-1	known	intronic	c.338+2312	e6+2312	0.000	-	-	-	no_errors	BIN3	HGNC	ENSG00000147439	tier3	121	0	0	193	3	1.53061224489796	62	2	3.125
8	24608694	24608694	G	C	SNP	ENSG00000253535	ENST00000519689	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-624C23.1	Clone_based_vega_gene	ENSG00000253535	tier4	520	0	0	318	243	43.0088495575221	259	55	17.2955974842767
8	25435842	25435842	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	487	0	0	642	8	1.23076923076923	257	0	0
8	25785753	25785753	C	T	SNP	EBF2	ENST00000520164	human	ensembl	70_37	-1	known	intronic	c.552-19682	e7-19682	0.001	-	-	-	no_errors	EBF2	HGNC	ENSG00000221818	tier3	1245	1	0.0802568218298555	886	716	44.6941323345818	367	92	19.8704103671706
8	25813230	25813230	C	A	SNP	EBF2	ENST00000520164	human	ensembl	70_37	-1	known	intronic	c.552-47159	e7-47159	0.000	-	-	-	no_errors	EBF2	HGNC	ENSG00000221818	tier3	632	0	0	788	2	0.252844500632111	302	4	1.30718954248366
8	26527186	26527186	G	T	SNP	DPYSL2	ENST00000311151	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*13964	NULL	0.005	-	-	-	no_errors	DPYSL2	HGNC	ENSG00000092964	tier4	1341	1	0.0745156482861401	1116	794	41.5706806282722	496	115	18.7601957585644
8	26800899	26800899	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	713	0	0	461	452	49.5071193866375	309	51	14.1666666666667
8	27649498	27649498	G	A	SNP	ESCO2	ENST00000305188	human	ensembl	70_37	+1	known	missense	c.1282	p.V428I	0.311	NULL	NULL	-	no_errors	ESCO2	HGNC	ENSG00000171320	tier1	689	2	0.29	562	0	0	789	24	2.95
8	27658612	27658612	G	T	SNP	ESCO2	ENST00000305188	human	ensembl	70_37	+1	known	intronic	c.1673+1379	e9+1379	0.072	-	-	-	no_errors	ESCO2	HGNC	ENSG00000171320	tier4	1267	0	0	1865	3	0.160599571734475	613	0	0
8	29894331	29894331	G	A	SNP	TMEM66	ENST00000256255	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*27073	NULL	0.010	-	-	-	no_errors	TMEM66	HGNC	ENSG00000133872	tier4	1690	1	0.0589622641509434	3008	8	0.264988406757204	483	7	1.42857142857143
8	30261182	30261182	T	G	SNP	RBPMS	ENST00000339877	human	ensembl	70_37	+1	known	intronic	c.66+18508	e1+18508	0.931	-	-	-	no_errors	RBPMS	HGNC	ENSG00000157110	tier4	1089	0	0	883	702	44.2902208201893	564	75	11.7370892018779
8	30317914	30317914	A	G	SNP	RBPMS	ENST00000339877	human	ensembl	70_37	+1	known	intronic	c.67-14381	e2-14381	0.000	-	-	-	no_errors	RBPMS	HGNC	ENSG00000157110	tier3	1403	0	0	2098	5	0.237755587256301	633	3	0.471698113207547
8	30471460	30471460	C	A	SNP	GTF2E2	ENST00000355904	human	ensembl	70_37	-1	known	intronic	c.366+665	e3+665	0.001	-	-	-	no_errors	GTF2E2	HGNC	ENSG00000197265	tier3	811	0	0	1397	4	0.285510349750178	458	0	0
8	30759427	30759427	C	A	SNP	TEX15	ENST00000518257	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11305	NULL	0.000	-	-	-	no_errors	TEX15	HGNC	ENSG00000133863	tier3	1451	0	0	2189	4	0.182232346241458	793	2	0.251572327044025
8	33761878	33761878	T	C	SNP	ENSG00000253642	ENST00000523063	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-317N12.1	Clone_based_vega_gene	ENSG00000253642	tier3	540	0	0	349	279	44.4267515923567	192	49	20.3319502074689
8	34031843	34031843	G	A	SNP	ENSG00000254302	ENST00000518217	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-561	NULL	0.002	-	-	-	no_errors	RP11-431M3.1	Clone_based_vega_gene	ENSG00000254302	tier3	951	0	0	785	315	27.6073619631902	426	0	0
8	34185255	34185255	T	C	SNP	ENSG00000253108	ENST00000522460	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP1-84O15.2	Clone_based_vega_gene	ENSG00000253108	tier3	919	0	0	1219	2	0.163800163800164	365	1	0.273224043715847
8	35206703	35206703	G	T	SNP	UNC5D	ENST00000404895	human	ensembl	70_37	+1	known	intronic	c.103+113298	e1+113298	0.002	-	-	-	no_errors	UNC5D	HGNC	ENSG00000156687	tier4	1634	2	0.122249388753056	1405	613	30.3465346534653	754	2	0.264550264550265
8	36192389	36192389	C	T	SNP	ENSG00000206871	ENST00000384144	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-25181	NULL	0.325	-	-	-	no_errors	U6	RFAM	ENSG00000206871	tier4	1106	2	0.18034265103697	757	619	44.9854651162791	529	102	16.1648177496038
8	36254789	36254789	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1084	0	0	1379	1	0.072463768115942	508	6	1.16279069767442
8	36262741	36262741	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	512	4	0.775193798449612	342	267	43.8423645320197	223	55	19.7841726618705
8	38029200	38029200	C	A	SNP	LSM1	ENST00000311351	human	ensembl	70_37	-1	known	intronic	c.115+283	e2+283	0.085	-	-	-	no_errors	LSM1	HGNC	ENSG00000175324	tier4	1175	0	0	1889	3	0.158562367864693	492	2	0.402414486921529
8	38596031	38596031	A	T	SNP	TACC1	ENST00000443286	human	ensembl	70_37	+1	known	intronic	c.1-3838	e1-3838	0.002	-	-	-	no_errors	TACC1	HGNC	ENSG00000147526	tier4	1341	0	0	1893	5	0.263435194942044	616	0	0
8	38631747	38631747	A	C	SNP	TACC1	ENST00000443286	human	ensembl	70_37	+1	known	intronic	c.23-13328	e2-13328	0.001	-	-	-	no_errors	TACC1	HGNC	ENSG00000147526	tier4	350	0	0	419	2	0.475059382422803	155	0	0
8	39070078	39070078	T	G	SNP	ADAM32	ENST00000379907	human	ensembl	70_37	+1	known	intronic	c.1233+1235	e12+1235	0.001	-	-	-	no_errors	ADAM32	HGNC	ENSG00000197140	tier4	778	0	0	1050	20	1.86741363211951	371	74	16.5178571428571
8	43097430	43097430	C	T	SNP	VN1R46P	ENST00000519939	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-21478	NULL	0.000	-	-	-	no_coding_region:pseudogene	VN1R46P	HGNC	ENSG00000253611	tier4	644	0	0	889	4	0.447427293064877	348	0	0
8	43097431	43097431	C	G	SNP	VN1R46P	ENST00000519939	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-21479	NULL	0.000	-	-	-	no_coding_region:pseudogene	VN1R46P	HGNC	ENSG00000253611	tier4	641	0	0	873	3	0.340136054421769	335	0	0
8	43613011	43613011	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1092	0	0	1592	3	0.188087774294671	524	0	0
8	43771118	43771118	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2365	2	0.0844594594594595	1973	1717	46.5185586561907	660	168	20.1923076923077
8	43837409	43837409	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2427	0	0	3966	2	0.0503905265810028	1074	2	0.185873605947955
8	46853270	46853270	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	676	0	0	964	2	0.20703933747412	430	0	0
8	46890012	46890012	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1315	0	0	1962	2	0.10183299389002	745	1	0.134048257372654
8	46890016	46890016	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1340	0	0	1984	4	0.201207243460765	762	4	0.520833333333333
8	47886140	47886140	A	C	SNP	MAPK6PS4	ENST00000517873	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-47886140	NULL	1.000	-	-	-	no_coding_region:pseudogene	MAPK6PS4	HGNC	ENSG00000215179	tier3	641	0	0	901	2	0.221238938053097	334	4	1.17647058823529
8	48425914	48425914	T	C	SNP	KIAA0146	ENST00000297423	human	ensembl	70_37	+1	known	intronic	c.1097+72810	e8+72810	0.000	-	-	-	no_errors	KIAA0146	HGNC	ENSG00000164808	tier3	1160	0	0	1780	3	0.168161434977578	523	0	0
8	49661562	49661562	T	C	SNP	ENSG00000233858	ENST00000536671	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.009	-	-	-	no_errors	AC026904.1	Clone_based_vega_gene	ENSG00000233858	tier4	1623	0	0	1151	931	44.6951512241959	598	125	17.2413793103448
8	50476195	50476195	A	G	SNP	ENSG00000253206	ENST00000520800	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-19119	NULL	0.001	-	-	-	no_errors	RP11-738G5.2	Clone_based_vega_gene	ENSG00000253206	tier4	1400	0	0	1899	4	0.210194429847609	539	0	0
8	50485167	50485167	A	C	SNP	ENSG00000253206	ENST00000520800	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-28091	NULL	0.010	-	-	-	no_errors	RP11-738G5.2	Clone_based_vega_gene	ENSG00000253206	tier3	1105	0	0	1398	3	0.214132762312634	441	3	0.672645739910314
8	52655132	52655132	C	A	SNP	PXDNL	ENST00000356297	human	ensembl	70_37	-1	known	intronic	c.164+66609	e1+66609	0.004	-	-	-	no_errors	PXDNL	HGNC	ENSG00000147485	tier3	1183	0	0	855	770	47.3554735547355	391	84	17.4636174636175
8	53944132	53944132	A	G	SNP	ENSG00000265835	ENST00000578249	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-36139	NULL	0.000	-	-	-	no_errors	AC009800.1	Clone_based_ensembl_gene	ENSG00000265835	tier3	2207	2	0.0905387052965143	1554	1276	45.0405930109425	766	170	18.1236673773987
8	54469831	54469831	C	T	SNP	LOC100507516	ENST00000426023	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33340	NULL	0.002	-	-	-	no_errors	RP11-400K9.4	Clone_based_vega_gene	ENSG00000237807	tier3	1011	1	0.0988142292490119	959	431	31.0071942446043	647	0	0
8	55221720	55221720	T	C	SNP	RNU105C	ENST00000362342	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21527	NULL	0.000	-	-	-	no_errors	RNU105C	HGNC	ENSG00000199212	tier3	479	0	0	667	2	0.298953662182362	213	2	0.930232558139535
8	55454275	55454275	G	A	SNP	ENSG00000254142	ENST00000518787	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12868	NULL	0.118	-	-	-	no_errors	RP11-53M11.3	Clone_based_vega_gene	ENSG00000254142	tier4	1370	0	0	1088	984	47.4903474903475	530	135	20.23988005997
8	55500744	55500744	G	A	SNP	RP1	ENST00000220676	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-32783	NULL	0.000	-	-	-	no_errors	RP1	HGNC	ENSG00000104237	tier3	1395	0	0	1000	829	45.3005464480874	542	125	18.7406296851574
8	55625316	55625316	A	T	SNP	ENSG00000254608	ENST00000521465	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-56A10.1	Clone_based_vega_gene	ENSG00000254608	tier4	1126	0	0	763	636	45.4285714285714	497	130	20.7336523125997
8	57719071	57719071	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	715	0	0	562	468	45.3928225024248	268	84	23.8636363636364
8	58120913	58120913	T	G	SNP	LOC100507651	ENST00000519241	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.016	-	-	-	no_errors	RP11-513O17.2	Clone_based_vega_gene	ENSG00000253301	tier3	1849	0	0	2403	3	0.124688279301746	1338	0	0
8	59238737	59238737	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1613	0	0	2271	2	0.0879507475813544	689	2	0.288600288600289
8	60236267	60236267	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1109	0	0	1665	2	0.11983223487118	545	1	0.182481751824818
8	60978152	60978152	A	C	SNP	ENSG00000254775	ENST00000531077	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-27P7.1	Clone_based_vega_gene	ENSG00000254775	tier3	503	0	0	673	4	0.590841949778434	267	0	0
8	61037220	61037220	G	A	SNP	ENSG00000254954	ENST00000531560	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17160	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-27P7.2	Clone_based_vega_gene	ENSG00000254954	tier3	1467	0	0	1098	893	44.8068238835926	438	101	18.7384044526902
8	61663866	61663866	A	C	SNP	CHD7	ENST00000307121	human	ensembl	70_37	+1	known	intronic	c.1665+8210	e1+8210	0.000	-	-	-	no_errors	CHD7	HGNC	ENSG00000171316	tier3	2197	0	0	3350	5	0.14903129657228	828	0	0
8	61898922	61898922	C	G	SNP	LOC100130298	ENST00000525556	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-18588	NULL	0.083	-	-	-	no_errors	AC022182.3	Clone_based_vega_gene	ENSG00000254802	tier3	768	0	0	1162	8	0.683760683760684	357	0	0
8	62144587	62144587	T	G	SNP	CLVS1	ENST00000522621	human	ensembl	70_37	+1	known	intronic	c.1-67649	e1-67649	0.088	-	-	-	no_stop_codon	CLVS1	HGNC	ENSG00000177182	tier4	926	0	0	1190	3	0.251046025104603	474	0	0
8	62567279	62567279	A	C	SNP	ASPH	ENST00000379454	human	ensembl	70_37	-1	known	intronic	c.323-1060	e4-1060	0.000	-	-	-	no_errors	ASPH	HGNC	ENSG00000198363	tier3	843	0	0	1219	3	0.245499181669394	444	2	0.448430493273543
8	62925028	62925028	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1836	0	0	1269	995	43.9487632508834	639	146	18.5987261146497
8	63238242	63238242	A	G	SNP	NKAIN3	ENST00000328472	human	ensembl	70_37	+1	known	intronic	c.54+76556	e1+76556	0.208	-	-	-	no_errors	NKAIN3	HGNC	ENSG00000185942	tier4	1361	0	0	878	797	47.5820895522388	590	113	16.0739687055477
8	63358904	63358904	T	G	SNP	NKAIN3	ENST00000328472	human	ensembl	70_37	+1	known	intronic	c.55-133194	e2-133194	0.000	-	-	-	no_errors	NKAIN3	HGNC	ENSG00000185942	tier3	828	0	0	1024	3	0.291828793774319	332	6	1.77514792899408
8	63498213	63498213	A	G	SNP	NKAIN3	ENST00000328472	human	ensembl	70_37	+1	known	intronic	c.193-4060	e3-4060	0.029	-	-	-	no_errors	NKAIN3	HGNC	ENSG00000185942	tier4	456	0	0	392	246	38.5579937304075	295	0	0
8	64550593	64550593	G	A	SNP	ENSG00000252358	ENST00000516549	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-28435	NULL	0.017	-	-	-	no_errors	7SK	RFAM	ENSG00000252358	tier4	1201	3	0.248756218905473	1520	1	0.0657462195923734	487	28	5.4368932038835
8	64593538	64593538	T	G	SNP	ENSG00000253762	ENST00000522857	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23776	NULL	0.000	-	-	-	no_errors	RP11-579E24.2	Clone_based_vega_gene	ENSG00000253762	tier3	972	0	0	1323	2	0.150829562594268	468	1	0.213219616204691
8	64696355	64696355	G	A	SNP	LOC286184	ENST00000519550	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	RP11-579E24.1	Clone_based_vega_gene	ENSG00000253734	tier4	2190	0	0	2947	2	0.0677736360555744	901	0	0
8	64891724	64891724	C	A	SNP	ENSG00000253554	ENST00000521958	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.742	-	-	-	no_errors	RP11-32K4.1	Clone_based_vega_gene	ENSG00000253554	tier3	912	0	0	619	445	41.8233082706767	429	78	15.3846153846154
8	64946422	64946422	G	T	SNP	ENSG00000253554	ENST00000521958	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.748	-	-	-	no_errors	RP11-32K4.1	Clone_based_vega_gene	ENSG00000253554	tier4	499	0	0	374	351	48.4137931034483	287	66	18.6968838526912
8	65442528	65442528	T	C	SNP	LOC401463	ENST00000517909	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*44340	NULL	0.365	-	-	-	no_errors	RP11-21C4.1	Clone_based_vega_gene	ENSG00000254102	tier4	1726	0	0	1179	930	44.0967283072546	577	115	16.6184971098266
8	65887311	65887311	C	T	SNP	ENSG00000253493	ENST00000520501	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-1228	NULL	0.171	-	-	-	no_coding_region:pseudogene	RP11-89A16.1	Clone_based_vega_gene	ENSG00000253493	tier3	1292	0	0	1651	22	1.3134328358209	498	113	18.494271685761
8	66116188	66116188	G	T	SNP	RPL31P41	ENST00000477967	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*48175	NULL	0.000	-	-	-	no_coding_region:pseudogene	RPL31P41	HGNC	ENSG00000239261	tier4	2080	0	0	2828	1	0.0353232073472271	683	4	0.58055152394775
8	66743567	66743567	G	A	SNP	PDE7A	ENST00000401827	human	ensembl	70_37	-1	known	intronic	c.138+10039	e1+10039	0.001	-	-	-	no_errors	PDE7A	HGNC	ENSG00000205268	tier3	553	0	0	766	2	0.260416666666667	285	2	0.680272108843537
8	67249631	67249631	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	649	0	0	990	2	0.201612903225806	360	1	0.277008310249307
8	67321330	67321330	T	A	SNP	ADHFE1	ENST00000396623	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23422	NULL	0.265	-	-	-	no_errors	ADHFE1	HGNC	ENSG00000147576	tier4	1263	0	0	1758	35	1.95094760312152	578	107	15.6204379562044
8	67387010	67387010	C	T	SNP	C8orf46	ENST00000470796	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	C8orf46	HGNC	ENSG00000169085	tier4	735	0	0	1050	2	0.190114068441065	368	2	0.53475935828877
8	67466203	67466203	C	G	SNP	MYBL1	ENST00000522677	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*10729	NULL	0.001	-	-	-	no_errors	MYBL1	HGNC	ENSG00000185697	tier3	749	0	0	614	454	42.5093632958801	392	60	13.1578947368421
8	68607164	68607164	G	T	SNP	CPA6	ENST00000297770	human	ensembl	70_37	-1	known	intronic	c.116+51085	e1+51085	0.003	-	-	-	no_errors	CPA6	HGNC	ENSG00000165078	tier4	837	0	0	1112	3	0.269058295964126	378	6	1.5625
8	69120349	69120349	G	A	SNP	PREX2	ENST00000288368	human	ensembl	70_37	+1	known	intronic	c.4605-9502	e38-9502	0.000	-	-	-	no_errors	PREX2	HGNC	ENSG00000046889	tier4	1435	0	0	1432	596	29.3885601577909	651	2	0.305343511450382
8	69806980	69806980	A	T	SNP	ENSG00000254337	ENST00000522354	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41982	NULL	0.004	-	-	-	no_errors	RP11-865I6.2	Clone_based_vega_gene	ENSG00000254337	tier4	605	0	0	418	340	44.8548812664908	308	51	14.2061281337047
8	71304936	71304936	T	G	SNP	NCOA2	ENST00000452400	human	ensembl	70_37	-1	known	intronic	c.1+10999	e0+10999	0.962	-	-	-	no_errors	NCOA2	HGNC	ENSG00000140396	tier3	1605	0	0	1176	1046	47.0535312640576	502	108	17.7049180327869
8	72782166	72782166	A	C	SNP	LOC100132891	ENST00000537896	human	ensembl	70_37	+1	known	intronic	c.497+25509	e2+25509	0.001	-	-	-	no_errors	RP11-383H13.1	Clone_based_vega_gene	ENSG00000235531	tier4	1011	0	0	1397	3	0.214285714285714	444	0	0
8	72818381	72818381	C	G	SNP	LOC100132891	ENST00000537896	human	ensembl	70_37	+1	known	intronic	c.498-56777	e3-56777	0.000	-	-	-	no_errors	RP11-383H13.1	Clone_based_vega_gene	ENSG00000235531	tier4	825	0	0	1139	2	0.175131348511384	349	1	0.282485875706215
8	73857288	73857288	G	A	SNP	ENSG00000260838	ENST00000564832	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2097	NULL	0.000	-	-	-	no_errors	RP11-531A24.3	Clone_based_vega_gene	ENSG00000260838	tier3	1019	0	0	1335	5	0.373134328358209	581	0	0
8	75250278	75250278	G	A	SNP	GDAP1	ENST00000520797	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	GDAP1	HGNC	ENSG00000104381	tier3	871	0	0	1107	3	0.27002700270027	402	0	0
8	75514053	75514053	G	T	SNP	ENSG00000254349	ENST00000523442	human	ensembl	70_37	+1	known	intronic	c.1+1910	e0+1910	0.000	-	-	-	no_errors	RP11-758M4.1	Clone_based_vega_gene	ENSG00000254349	tier3	692	0	0	870	2	0.229357798165138	369	0	0
8	75751098	75751098	A	G	SNP	PI15	ENST00000260113	human	ensembl	70_37	+1	known	intronic	c.274-5118	e2-5118	0.000	-	-	-	no_errors	PI15	HGNC	ENSG00000137558	tier3	904	0	0	1236	5	0.40290088638195	437	0	0
8	77012633	77012633	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2286	0	0	3204	3	0.0934579439252336	739	0	0
8	77244295	77244295	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	889	0	0	686	523	43.2588916459884	383	100	20.703933747412
8	77262250	77262250	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	601	0	0	430	347	44.6015424164524	282	75	21.0084033613445
8	77503203	77503203	C	G	SNP	ZFHX4-AS1	ENST00000522961	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	ZFHX4-AS1	HGNC	ENSG00000253661	tier3	886	0	0	1139	30	2.56629597946963	515	0	0
8	77668440	77668440	G	T	SNP	ZFHX4	ENST00000521891	human	ensembl	70_37	+1	known	intronic	c.3094-22004	e3-22004	0.001	-	-	-	no_errors	ZFHX4	HGNC	ENSG00000091656	tier3	673	0	0	817	2	0.244200244200244	337	0	0
8	77705057	77705057	A	C	SNP	ZFHX4	ENST00000521891	human	ensembl	70_37	+1	known	intronic	c.3325+14382	e3+14382	1.000	-	-	-	no_errors	ZFHX4	HGNC	ENSG00000091656	tier3	868	0	0	1122	6	0.531914893617021	407	4	0.97323600973236
8	77998617	77998617	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1300	1	0.0767459708365311	935	714	43.298969072165	515	90	14.7299509001637
8	78236664	78236664	C	T	SNP	ENSG00000222334	ENST00000410402	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*37533	NULL	0.005	-	-	-	no_errors	AC105242.1	Clone_based_ensembl_gene	ENSG00000222334	tier4	1140	1	0.0876424189307625	880	419	32.2555812163202	598	0	0
8	78258337	78258337	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	974	0	0	677	432	38.9189189189189	401	89	18.1632653061225
8	79525933	79525933	G	A	SNP	PKIA	ENST00000352966	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*11877	NULL	0.000	-	-	-	no_errors	PKIA	HGNC	ENSG00000171033	tier3	1085	1	0.0919117647058824	1244	130	9.45454545454545	520	4	0.760456273764259
8	79580300	79580300	C	T	SNP	ZC2HC1A	ENST00000263849	human	ensembl	70_37	+1	known	intronic	c.16+1901	e1+1901	0.100	-	-	-	no_errors	ZC2HC1A	HGNC	ENSG00000104427	tier3	1049	1	0.0951474785918173	725	644	47.0416362308254	405	117	22.4137931034483
8	80386803	80386803	A	C	SNP	ENSG00000253391	ENST00000522035	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45577	NULL	0.006	-	-	-	no_coding_region:pseudogene	RP11-758H6.1	Clone_based_vega_gene	ENSG00000253391	tier4	1033	0	0	1419	4	0.28109627547435	402	1	0.248138957816377
8	80865993	80865993	C	A	SNP	MRPS28	ENST00000276585	human	ensembl	70_37	-1	known	intronic	c.396-34610	e3-34610	0.002	-	-	-	no_errors	MRPS28	HGNC	ENSG00000147586	tier4	1111	0	0	1601	3	0.186219739292365	479	2	0.415800415800416
8	81015058	81015058	A	G	SNP	TPD52	ENST00000518937	human	ensembl	70_37	-1	known	intronic	c.20-38230	e2-38230	0.301	-	-	-	no_errors	TPD52	HGNC	ENSG00000076554	tier4	1054	0	0	1521	2	0.131233595800525	547	0	0
8	81043729	81043729	T	C	SNP	TPD52	ENST00000518937	human	ensembl	70_37	-1	known	intronic	c.19+39931	e1+39931	0.000	-	-	-	no_errors	TPD52	HGNC	ENSG00000076554	tier3	880	0	0	1324	2	0.150715900527506	445	0	0
8	81056740	81056740	A	C	SNP	TPD52	ENST00000518937	human	ensembl	70_37	-1	known	intronic	c.19+26920	e1+26920	0.000	-	-	-	no_errors	TPD52	HGNC	ENSG00000076554	tier3	266	0	0	391	2	0.508905852417303	178	0	0
8	81916175	81916175	G	A	SNP	PAG1	ENST00000220597	human	ensembl	70_37	-1	known	intronic	c.1-10633	e1-10633	0.000	-	-	-	no_errors	PAG1	HGNC	ENSG00000076641	tier3	1062	0	0	859	567	39.7615708274895	437	64	12.7490039840637
8	82128239	82128239	C	A	SNP	UBE2HP1	ENST00000517466	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-38866	NULL	0.386	-	-	-	no_coding_region:pseudogene	UBE2HP1	HGNC	ENSG00000253677	tier3	574	0	0	867	4	0.459242250287026	307	2	0.645161290322581
8	84458381	84458381	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	248	0	0	301	5	1.63398692810458	158	2	1.25
8	84637058	84637058	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	440	0	0	510	2	0.389863547758285	209	2	0.947867298578199
8	85068668	85068668	A	G	SNP	RALYL	ENST00000521268	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-372889	NULL	0.002	-	-	-	no_errors	RALYL	HGNC	ENSG00000184672	tier4	1114	0	0	712	595	45.4892966360856	490	78	13.7323943661972
8	85431685	85431685	G	T	SNP	RALYL	ENST00000521268	human	ensembl	70_37	+1	known	intronic	c.1-9849	e1-9849	0.000	-	-	-	no_errors	RALYL	HGNC	ENSG00000184672	tier3	1526	0	0	1064	817	43.4112646121148	538	110	16.8711656441718
8	85740686	85740686	A	T	SNP	RALYL	ENST00000521268	human	ensembl	70_37	+1	known	intronic	c.366-21529	e4-21529	0.307	-	-	-	no_errors	RALYL	HGNC	ENSG00000184672	tier3	798	0	0	1083	5	0.459558823529412	375	2	0.530503978779841
8	86208744	86208744	T	C	SNP	ENSG00000257962	ENST00000551479	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-46667	NULL	0.000	-	-	-	no_start_codon	RP11-219B4.6	Clone_based_vega_gene	ENSG00000257962	tier4	662	0	0	874	2	0.228310502283105	302	1	0.328947368421053
8	87747565	87747565	T	G	SNP	CNGB3	ENST00000320005	human	ensembl	70_37	-1	known	intronic	c.211+4318	e2+4318	0.002	-	-	-	no_errors	CNGB3	HGNC	ENSG00000170289	tier4	1440	0	0	1737	2	0.115008625646924	552	1	0.180831826401447
8	88958093	88958093	C	T	SNP	ENSG00000253171	ENST00000518129	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-28300	NULL	0.014	-	-	-	no_errors	CTB-118P15.2	Clone_based_vega_gene	ENSG00000253171	tier4	696	0	0	923	2	0.216216216216216	392	1	0.254452926208651
8	92617951	92617951	T	G	SNP	ENSG00000253901	ENST00000518416	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.022	-	-	-	no_errors	RP11-122C21.1	Clone_based_vega_gene	ENSG00000253901	tier4	716	0	0	483	406	45.6692913385827	253	56	18.1229773462783
8	93172503	93172503	T	C	SNP	ENSG00000233778	ENST00000430661	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15951	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-777J24.1	Clone_based_vega_gene	ENSG00000233778	tier3	882	0	0	1232	2	0.162074554294976	395	0	0
8	93795484	93795484	A	C	SNP	FLJ46284	ENST00000504861	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-100L22.2	Clone_based_vega_gene	ENSG00000248858	tier4	735	0	0	938	2	0.212765957446809	311	1	0.320512820512821
8	94102684	94102684	A	T	SNP	C8orf87	ENST00000521906	human	ensembl	70_37	-1	putative	3_prime_flanking_region	c.*43839	NULL	0.994	-	-	-	no_errors	C8orf87	HGNC	ENSG00000254318	tier4	932	0	0	1070	2	0.186393289841566	407	0	0
8	94130728	94130728	T	G	SNP	C8orf87	ENST00000521906	human	ensembl	70_37	-1	putative	3_prime_flanking_region	c.*15795	NULL	0.950	-	-	-	no_errors	C8orf87	HGNC	ENSG00000254318	tier4	1058	0	0	1353	2	0.14760147601476	460	0	0
8	94137721	94137721	C	G	SNP	C8orf87	ENST00000521906	human	ensembl	70_37	-1	putative	3_prime_flanking_region	c.*8802	NULL	0.000	-	-	-	no_errors	C8orf87	HGNC	ENSG00000254318	tier3	1308	0	0	915	673	42.3270440251572	599	112	15.6643356643357
8	96023174	96023174	A	G	SNP	NDUFAF6	ENST00000542894	human	ensembl	70_37	+1	known	intronic	c.42-21049	e2-21049	0.001	-	-	-	no_errors	NDUFAF6	HGNC	ENSG00000156170	tier4	924	0	0	1321	2	0.151171579743008	491	3	0.607287449392713
8	97186867	97186867	G	C	SNP	GDF6	ENST00000287020	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-13947	NULL	0.010	-	-	-	no_errors	GDF6	HGNC	ENSG00000156466	tier3	516	0	0	663	3	0.449775112443778	212	0	0
8	100596099	100596099	T	A	SNP	VPS13B	ENST00000358544	human	ensembl	70_37	+1	known	intronic	c.5295+6238	e32+6238	0.006	-	-	-	no_errors	VPS13B	HGNC	ENSG00000132549	tier3	1184	0	0	785	788	50.0953591862683	482	119	19.8003327787022
8	100712175	100712175	A	G	SNP	VPS13B	ENST00000358544	human	ensembl	70_37	+1	known	intronic	c.6529+15	e35+15	0.000	-	-	-	no_errors	VPS13B	HGNC	ENSG00000132549	tier3	1276	0	0	1749	4	0.227920227920228	560	0	0
8	100777650	100777650	C	T	SNP	VPS13B	ENST00000358544	human	ensembl	70_37	+1	known	intronic	c.7126-1352	e39-1352	0.001	-	-	-	no_errors	VPS13B	HGNC	ENSG00000132549	tier4	1088	0	0	1392	2	0.143472022955524	488	0	0
8	101000024	101000024	A	T	SNP	RGS22	ENST00000360863	human	ensembl	70_37	-1	known	intronic	c.3019-177	e21-177	0.382	-	-	-	no_errors	RGS22	HGNC	ENSG00000132554	tier3	1653	0	0	2419	2	0.0825763831544178	767	0	0
8	101402114	101402114	T	G	SNP	ENSG00000253824	ENST00000519844	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.933	-	-	-	no_errors	KB-173C10.2	Clone_based_vega_gene	ENSG00000253824	tier4	496	0	0	759	2	0.26281208935611	315	1	0.314465408805031
8	101702874	101702874	C	G	SNP	PABPC1	ENST00000518293	human	ensembl	70_37	-1	known	intronic	c.128-4352	e3-4352	0.493	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	PABPC1	HGNC	ENSG00000070756	tier4	1090	0	0	1126	489	30.259900990099	534	0	0
8	102219661	102219661	G	T	SNP	ZNF706	ENST00000311212	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5692	NULL	0.000	-	-	-	no_errors	ZNF706	HGNC	ENSG00000120963	tier3	1616	0	0	2306	2	0.0866551126516464	670	6	0.884955752212389
8	102275933	102275933	T	G	SNP	RNU7-67P	ENST00000459003	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-43662	NULL	0.002	-	-	-	no_errors	RNU7-67P	HGNC	ENSG00000239115	tier3	946	0	0	1356	2	0.147275405007364	429	0	0
8	102409402	102409402	T	C	SNP	ENSG00000253644	ENST00000518612	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3988	NULL	0.000	-	-	-	no_errors	KB-1930G5.3	Clone_based_vega_gene	ENSG00000253644	tier3	470	0	0	375	288	43.4389140271493	254	50	16.4473684210526
8	103003199	103003199	T	C	SNP	NCALD	ENST00000311028	human	ensembl	70_37	-1	known	intronic	c.1+29266	e0+29266	0.000	-	-	-	no_errors	NCALD	HGNC	ENSG00000104490	tier3	968	0	0	646	523	44.7008547008547	408	70	14.6443514644351
8	103182024	103182024	C	T	SNP	NCALD	ENST00000311028	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-450167	NULL	0.005	-	-	-	no_errors	NCALD	HGNC	ENSG00000104490	tier4	881	0	0	566	517	47.7377654662973	309	61	16.4864864864865
8	103809374	103809374	T	C	SNP	FLJ45248	ENST00000405813	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9676	NULL	0.853	-	-	-	no_errors	KB-1732A1.1	Clone_based_vega_gene	ENSG00000253669	tier2	333	0	0	489	2	0.407331975560081	129	1	0.769230769230769
8	105955538	105955538	A	T	SNP	ENSG00000253350	ENST00000518180	human	ensembl	70_37	+1	known	intronic	c.7-48314	e2-48314	0.006	-	-	-	no_errors	RP11-127H5.1	Clone_based_vega_gene	ENSG00000253350	tier3	1473	1	0.0677966101694915	1438	568	28.3150548354935	603	0	0
8	106587523	106587523	T	G	SNP	ZFPM2	ENST00000407775	human	ensembl	70_37	+1	known	intronic	c.420+13814	e4+13814	1.000	-	-	-	no_errors	ZFPM2	HGNC	ENSG00000169946	tier2	1089	0	0	1491	2	0.133779264214047	425	0	0
8	106647685	106647685	C	A	SNP	ZFPM2	ENST00000407775	human	ensembl	70_37	+1	known	intronic	c.532+1100	e5+1100	1.000	-	-	-	no_errors	ZFPM2	HGNC	ENSG00000169946	tier2	1063	0	0	1545	3	0.193423597678917	500	0	0
8	108589060	108589060	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	474	0	0	711	4	0.558659217877095	254	0	0
8	109146799	109146799	T	C	SNP	ENSG00000230948	ENST00000413008	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2457	NULL	0.001	-	-	-	no_coding_region:pseudogene	AP001331.1	Clone_based_vega_gene	ENSG00000230948	tier4	755	0	0	1070	2	0.186567164179104	408	1	0.244498777506112
8	109797527	109797527	A	G	SNP	TMEM74	ENST00000297459	human	ensembl	70_37	-1	known	intronic	c.1-161	e1-161	0.000	-	-	-	no_errors	TMEM74	HGNC	ENSG00000164841	tier3	957	0	0	1309	2	0.15255530129672	344	0	0
8	110129258	110129258	T	G	SNP	TRHR	ENST00000311762	human	ensembl	70_37	+1	known	intronic	c.790-2019	e2-2019	0.000	-	-	-	no_errors	TRHR	HGNC	ENSG00000174417	tier3	657	0	0	901	3	0.331491712707182	262	1	0.380228136882129
8	112496629	112496629	T	A	SNP	ENSG00000253434	ENST00000521753	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-1101K5.1	Clone_based_vega_gene	ENSG00000253434	tier3	1178	0	0	814	721	46.9401041666667	508	83	14.0439932318105
8	113407960	113407960	T	G	SNP	CSMD3	ENST00000297405	human	ensembl	70_37	-1	known	intronic	c.5810-4943	e36-4943	1.000	-	-	-	no_errors	CSMD3	HGNC	ENSG00000164796	tier3	1027	0	0	1447	2	0.138026224982747	574	1	0.173611111111111
8	113927925	113927925	A	C	SNP	CSMD3	ENST00000297405	human	ensembl	70_37	-1	known	intronic	c.1633+5931	e10+5931	0.002	-	-	-	no_errors	CSMD3	HGNC	ENSG00000164796	tier3	911	0	0	1314	2	0.151745068285281	473	0	0
8	114013066	114013066	G	C	SNP	CSMD3	ENST00000297405	human	ensembl	70_37	-1	known	intronic	c.1030+18230	e6+18230	0.001	-	-	-	no_errors	CSMD3	HGNC	ENSG00000164796	tier4	1119	0	0	753	598	44.2635085122132	414	94	18.4313725490196
8	114398019	114398019	A	G	SNP	CSMD3	ENST00000297405	human	ensembl	70_37	-1	known	intronic	c.178+50887	e1+50887	0.000	-	-	-	no_errors	CSMD3	HGNC	ENSG00000164796	tier4	1270	0	0	1692	4	0.235849056603774	518	6	1.14503816793893
8	114486988	114486988	G	A	SNP	CSMD3	ENST00000297405	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37905	NULL	0.143	-	-	-	no_errors	CSMD3	HGNC	ENSG00000164796	tier4	447	1	0.223214285714286	255	233	47.7459016393443	216	44	16.9230769230769
8	116218072	116218072	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1518	1	0.0658327847267939	1151	846	42.363545317977	576	124	17.7142857142857
8	118608173	118608173	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	606	0	0	438	324	42.5196850393701	291	46	13.6498516320475
8	118679638	118679638	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	889	0	0	1224	4	0.32546786004882	245	2	0.809716599190283
8	118835766	118835766	T	C	SNP	EXT1	ENST00000378204	human	ensembl	70_37	-1	known	intronic	c.1285-930	e5-930	0.000	-	-	-	no_errors	EXT1	HGNC	ENSG00000182197	tier4	989	0	0	1435	2	0.13869625520111	431	3	0.691244239631336
8	119502020	119502020	A	T	SNP	SAMD12	ENST00000314727	human	ensembl	70_37	-1	known	intronic	c.193-49820	e3-49820	0.152	-	-	-	no_errors	SAMD12	HGNC	ENSG00000177570	tier3	1593	0	0	2209	3	0.13550135501355	732	0	0
8	122075750	122075750	C	T	SNP	ENSG00000253619	ENST00000517739	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-369K17.1	Clone_based_vega_gene	ENSG00000253619	tier4	2357	5	0.211595429538722	3430	2	0.0582750582750583	811	50	5.74052812858783
8	122980148	122980148	T	A	SNP	ENSG00000254303	ENST00000523792	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-398G24.2	Clone_based_vega_gene	ENSG00000254303	tier3	582	0	0	729	4	0.545702592087312	339	0	0
8	123411031	123411031	C	T	SNP	ENSG00000255364	ENST00000533992	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*15540	NULL	0.002	-	-	-	no_errors	RP11-94A24.1	Clone_based_vega_gene	ENSG00000255364	tier3	1777	0	0	1287	1016	44.1163699522362	636	133	17.295188556567
8	127057092	127057092	C	T	SNP	ENSG00000254227	ENST00000523525	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43847	NULL	0.065	-	-	-	no_errors	RP11-622O11.4	Clone_based_vega_gene	ENSG00000254227	tier4	1184	2	0.16849199663016	1004	538	34.8897535667964	493	2	0.401606425702811
8	127709712	127709712	A	G	SNP	ENSG00000254286	ENST00000519880	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-89K10.1	Clone_based_vega_gene	ENSG00000254286	tier4	623	0	0	475	342	41.8604651162791	277	82	22.8412256267409
8	128295287	128295287	A	T	SNP	LOC727677	ENST00000501396	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*6775	NULL	0.000	-	-	-	no_errors	RP11-382A18.1	Clone_based_vega_gene	ENSG00000246228	tier4	871	0	0	1067	5	0.465983224603914	284	0	0
8	128496926	128496926	A	C	SNP	LOC727677	ENST00000502056	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2542	NULL	0.181	-	-	-	no_errors	RP11-382A18.1	Clone_based_vega_gene	ENSG00000246228	tier4	167	0	0	246	2	0.806451612903226	110	0	0
8	129033215	129033215	A	C	SNP	PVT1	ENST00000512617	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	PVT1	HGNC	ENSG00000249859	tier3	452	0	0	641	1	0.15552099533437	213	5	2.28310502283105
8	129743616	129743616	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	840	0	0	570	487	45.9867799811143	439	105	19.3014705882353
8	130080034	130080034	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1427	0	0	1966	2	0.101626016260163	541	1	0.18450184501845
8	130927807	130927807	T	G	SNP	FAM49B	ENST00000401979	human	ensembl	70_37	-1	known	intronic	c.1-10976	e1-10976	0.000	-	-	-	no_errors	FAM49B	HGNC	ENSG00000153310	tier4	1172	0	0	1856	3	0.161377084454008	537	3	0.555555555555556
8	131811748	131811748	T	C	SNP	ADCY8	ENST00000286355	human	ensembl	70_37	-1	known	intronic	c.3060+924	e15+924	0.000	-	-	-	no_errors	ADCY8	HGNC	ENSG00000155897	tier4	1022	0	0	1463	4	0.27266530334015	359	1	0.276243093922652
8	133325997	133325997	T	G	SNP	KCNQ3	ENST00000388996	human	ensembl	70_37	-1	known	intronic	c.387-127569	e2-127569	0.005	-	-	-	no_errors	KCNQ3	HGNC	ENSG00000184156	tier3	1016	0	0	1331	2	0.150037509377344	487	0	0
8	133415010	133415010	A	G	SNP	KCNQ3	ENST00000388996	human	ensembl	70_37	-1	known	intronic	c.386+77384	e1+77384	0.004	-	-	-	no_errors	KCNQ3	HGNC	ENSG00000184156	tier4	1114	0	0	1182	207	14.902807775378	385	1	0.259067357512953
8	135859202	135859202	A	G	SNP	MIR30D	ENST00000362283	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42014	NULL	0.000	-	-	-	no_errors	MIR30D	HGNC	ENSG00000199153	tier4	1589	0	0	2064	1	0.0484027105517909	499	2	0.397614314115308
8	136068874	136068874	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	437	0	0	560	5	0.884955752212389	291	1	0.342465753424658
8	136682626	136682626	G	A	SNP	MAPRE1P1	ENST00000522077	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44402	NULL	0.000	-	-	-	no_coding_region:pseudogene	MAPRE1P1	HGNC	ENSG00000253915	tier4	513	0	0	367	241	39.6381578947368	220	44	16.5413533834586
8	136836424	136836424	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	915	0	0	628	556	46.9594594594595	306	85	21.7391304347826
8	137265907	137265907	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1752	1	0.0570125427594071	1194	1013	45.8786231884058	551	105	15.9332321699545
8	137424620	137424620	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	950	2	0.209424083769634	623	479	43.4664246823956	427	75	14.9402390438247
8	137759455	137759455	T	G	SNP	ENSG00000254101	ENST00000517345	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.148	-	-	-	no_errors	RP11-30J20.1	Clone_based_vega_gene	ENSG00000254101	tier4	1501	0	0	1888	3	0.158562367864693	598	0	0
8	139273234	139273234	C	A	SNP	FAM135B	ENST00000395297	human	ensembl	70_37	-1	known	intronic	c.298-4232	e4-4232	0.000	-	-	-	no_errors	FAM135B	HGNC	ENSG00000147724	tier3	840	0	0	529	417	44.0803382663848	375	88	19.0064794816415
8	139328893	139328893	A	C	SNP	FAM135B	ENST00000395297	human	ensembl	70_37	-1	known	intronic	c.78-5730	e2-5730	0.132	-	-	-	no_errors	FAM135B	HGNC	ENSG00000147724	tier4	647	0	0	765	2	0.260756192959583	351	1	0.284090909090909
8	139722186	139722186	T	C	SNP	COL22A1	ENST00000303045	human	ensembl	70_37	-1	known	intronic	c.2517+5739	e29+5739	0.000	-	-	-	no_errors	COL22A1	HGNC	ENSG00000169436	tier3	542	0	0	337	311	47.9938271604938	221	34	13.3333333333333
8	140035661	140035661	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1090	0	0	1564	2	0.127551020408163	504	5	0.982318271119843
8	140631824	140631824	A	C	SNP	KCNK9	ENST00000303015	human	ensembl	70_37	-1	known	intronic	c.284-482	e2-482	0.000	-	-	-	no_errors	KCNK9	HGNC	ENSG00000169427	tier4	744	0	0	1025	2	0.194741966893866	318	1	0.313479623824451
8	140646546	140646546	G	T	SNP	KCNK9	ENST00000303015	human	ensembl	70_37	-1	known	intronic	c.284-15204	e2-15204	0.000	-	-	-	no_errors	KCNK9	HGNC	ENSG00000169427	tier4	643	0	0	787	3	0.379746835443038	279	0	0
8	141343777	141343777	A	C	SNP	TRAPPC9	ENST00000389328	human	ensembl	70_37	-1	known	intronic	c.1790-22304	e10-22304	0.021	-	-	-	no_errors	TRAPPC9	HGNC	ENSG00000167632	tier4	1287	0	0	1960	2	0.101884870096791	433	0	0
8	142486387	142486387	A	C	SNP	FLJ43860	ENST00000521053	human	ensembl	70_37	-1	known	intronic	c.120+1116	e2+1116	0.000	-	-	-	no_errors	FLJ43860	Uniprot_genename	ENSG00000226807	tier3	81	0	0	109	2	1.8018018018018	49	0	0
8	144153005	144153005	T	C	SNP	ENSG00000261667	ENST00000562505	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-9466	NULL	0.023	-	-	-	no_errors	RP11-520P18.5	Clone_based_vega_gene	ENSG00000261667	tier4	1174	0	0	1042	722	40.9297052154195	542	100	15.5763239875389
9	558706	558706	T	A	SNP	KANK1	ENST00000382297	human	ensembl	70_37	+1	known	intronic	c.1+53952	e0+53952	0.001	-	-	-	no_errors	KANK1	HGNC	ENSG00000107104	tier4	910	0	0	1506	2	0.132013201320132	495	0	0
9	1512703	1512703	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	921	0	0	1135	1	0.0880281690140845	399	3	0.746268656716418
9	1956551	1956551	A	G	SNP	ENSG00000224092	ENST00000436102	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*21233	NULL	0.027	-	-	-	no_coding_region:pseudogene	RP11-443B9.1	Clone_based_vega_gene	ENSG00000224092	tier4	709	0	0	1093	3	0.273722627737226	407	1	0.245098039215686
9	2678246	2678246	T	C	SNP	KCNV2	ENST00000382082	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39494	NULL	0.001	-	-	-	no_errors	KCNV2	HGNC	ENSG00000168263	tier2	413	0	0	595	3	0.500834724540901	91	1	1.08695652173913
9	4138526	4138526	A	G	SNP	GLIS3	ENST00000381971	human	ensembl	70_37	-1	known	intronic	c.389-12585	e2-12585	0.001	-	-	-	no_errors	GLIS3	HGNC	ENSG00000107249	tier2	857	0	0	1163	3	0.257289879931389	449	2	0.441501103752759
9	4161532	4161532	C	T	SNP	GLIS3	ENST00000381971	human	ensembl	70_37	-1	known	intronic	c.389-35591	e2-35591	0.000	-	-	-	no_errors	GLIS3	HGNC	ENSG00000107249	tier2	1103	0	0	799	671	45.6462585034014	474	93	16.4021164021164
9	4703235	4703235	G	T	SNP	CDC37L1	ENST00000381854	human	ensembl	70_37	+1	known	intronic	c.912+1207	e6+1207	0.001	-	-	-	no_errors	CDC37L1	HGNC	ENSG00000106993	tier2	1076	0	0	1584	2	0.12586532410321	461	2	0.428265524625268
9	6097300	6097300	A	C	SNP	LOC100506189	ENST00000437881	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*30586	NULL	0.084	-	-	-	no_errors	RP11-218I7.2	Clone_based_vega_gene	ENSG00000228739	tier4	535	0	0	734	3	0.407055630936228	226	0	0
9	6237490	6237490	C	A	SNP	IL33	ENST00000456383	human	ensembl	70_37	+1	known	intronic	c.1-4194	e1-4194	0.001	-	-	-	no_errors	IL33	HGNC	ENSG00000137033	tier2	695	0	0	1040	3	0.287631831255992	321	4	1.22699386503067
9	6267921	6267921	T	C	SNP	ENSG00000228132	ENST00000445989	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8719	NULL	0.054	-	-	-	no_coding_region:pseudogene	RP11-279E1.1	Clone_based_vega_gene	ENSG00000228132	tier4	1337	1	0.0744047619047619	988	709	41.6324133881386	498	79	13.6915077989601
9	7149719	7149719	T	G	SNP	KDM4C	ENST00000381309	human	ensembl	70_37	+1	known	intronic	c.2782-15519	e19-15519	0.000	-	-	-	no_errors	KDM4C	HGNC	ENSG00000107077	tier2	1630	0	0	2181	2	0.0916170407695831	718	0	0
9	7846845	7846845	T	C	SNP	C9orf123	ENST00000469050	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.053	-	-	-	no_errors	C9orf123	HGNC	ENSG00000137038	tier4	651	0	0	441	328	42.6527958387516	326	77	19.106699751861
9	7899501	7899501	T	C	SNP	C9orf123	ENST00000469050	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11121	NULL	0.000	-	-	-	no_errors	C9orf123	HGNC	ENSG00000137038	tier4	835	0	0	1110	2	0.179856115107914	362	0	0
9	8567078	8567078	T	G	SNP	PTPRD	ENST00000356435	human	ensembl	70_37	-1	known	intronic	c.353-38299	e4-38299	0.000	-	-	-	no_errors	PTPRD	HGNC	ENSG00000153707	tier3	500	0	0	615	2	0.323101777059774	260	1	0.383141762452107
9	9090494	9090494	G	T	SNP	PTPRD	ENST00000381196	human	ensembl	70_37	-1	known	intronic	c.1-71759	e1-71759	0.014	-	-	-	no_errors	PTPRD	HGNC	ENSG00000153707	tier3	697	0	0	882	2	0.225988700564972	374	4	1.05820105820106
9	10699399	10699399	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1018	1	0.098135426889107	743	472	38.8157894736842	399	92	18.5858585858586
9	11020674	11020674	A	C	SNP	ENSG00000234146	ENST00000434743	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*7578	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-109M17.1	Clone_based_vega_gene	ENSG00000234146	tier3	1300	0	0	1480	160	9.7442143727162	630	0	0
9	11024000	11024000	C	G	SNP	ENSG00000234146	ENST00000434743	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*10904	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-109M17.1	Clone_based_vega_gene	ENSG00000234146	tier4	1093	0	0	1535	2	0.130039011703511	531	0	0
9	11158002	11158002	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	565	1	0.176678445229682	359	312	46.4977645305514	274	60	17.9640718562874
9	11289809	11289809	A	C	SNP	ENSG00000230365	ENST00000437471	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-13495	NULL	0.000	-	-	-	no_errors	RP11-23D5.1	Clone_based_vega_gene	ENSG00000230365	tier3	968	0	0	1316	2	0.151745068285281	475	0	0
9	11674954	11674954	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1468	0	0	1890	41	2.12325220093216	677	0	0
9	11702244	11702244	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1482	1	0.0674308833445718	1367	648	32.1588089330025	684	0	0
9	11767606	11767606	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	562	0	0	675	4	0.589101620029455	310	2	0.632911392405063
9	11867874	11867874	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1675	0	0	2124	5	0.234852043212776	681	0	0
9	12277989	12277989	G	A	SNP	ENSG00000231491	ENST00000413804	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9331	NULL	0.180	-	-	-	no_coding_region:pseudogene	RP11-71E22.1	Clone_based_vega_gene	ENSG00000231491	tier3	1015	0	0	1291	3	0.231660231660232	363	1	0.274725274725275
9	12408525	12408525	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1121	0	0	1610	2	0.123992560446373	499	0	0
9	12536822	12536822	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1091	0	0	730	600	45.0788880540947	415	77	15.587044534413
9	13180750	13180750	A	C	SNP	MPDZ	ENST00000319217	human	ensembl	70_37	-1	known	intronic	c.2649+2667	e18+2667	0.001	-	-	-	no_errors	MPDZ	HGNC	ENSG00000107186	tier3	564	0	0	916	2	0.217864923747277	368	2	0.540540540540541
9	13542918	13542918	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	978	0	0	1249	2	0.159744408945687	439	0	0
9	14217863	14217863	T	C	SNP	NFIB	ENST00000397581	human	ensembl	70_37	-1	known	intronic	c.563-38084	e3-38084	0.000	-	-	-	no_errors	NFIB	HGNC	ENSG00000147862	tier3	1122	0	0	1489	2	0.134138162307176	552	1	0.18018018018018
9	14821284	14821284	T	A	SNP	FREM1	ENST00000380881	human	ensembl	70_37	-1	known	intronic	c.2341-1844	e13-1844	0.000	-	-	-	no_errors	FREM1	HGNC	ENSG00000164946	tier3	1091	0	0	1557	5	0.320102432778489	393	1	0.253807106598985
9	15849179	15849179	G	A	SNP	CCDC171	ENST00000380701	human	ensembl	70_37	+1	known	intronic	c.3468+234	e22+234	0.873	-	-	-	no_errors	CCDC171	HGNC	ENSG00000164989	tier3	1090	0	0	1065	405	27.5510204081633	521	2	0.380952380952381
9	16489356	16489356	C	A	SNP	BNC2	ENST00000380672	human	ensembl	70_37	-1	known	intronic	c.670-51834	e6-51834	0.002	-	-	-	no_errors	BNC2	HGNC	ENSG00000173068	tier4	1181	0	0	1634	2	0.122174709835064	535	0	0
9	16567763	16567763	A	G	SNP	BNC2	ENST00000380672	human	ensembl	70_37	-1	known	intronic	c.434-15000	e5-15000	0.019	-	-	-	no_errors	BNC2	HGNC	ENSG00000173068	tier2	1144	0	0	804	674	45.6021650879567	474	100	17.4216027874564
9	16572082	16572082	T	G	SNP	BNC2	ENST00000380672	human	ensembl	70_37	-1	known	intronic	c.433+10899	e4+10899	0.000	-	-	-	no_errors	BNC2	HGNC	ENSG00000173068	tier3	922	0	0	1242	2	0.160771704180064	402	1	0.248138957816377
9	16812089	16812089	A	G	SNP	BNC2	ENST00000380672	human	ensembl	70_37	-1	known	intronic	c.3+58555	e1+58555	0.000	-	-	-	no_errors	BNC2	HGNC	ENSG00000173068	tier3	576	0	0	929	2	0.214822771213749	322	3	0.917431192660551
9	17065059	17065059	G	T	SNP	ENSG00000237153	ENST00000430545	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-132E11.2	Clone_based_vega_gene	ENSG00000237153	tier3	1063	0	0	1492	3	0.200534759358289	577	2	0.345423143350604
9	17158723	17158723	A	T	SNP	CNTLN	ENST00000380647	human	ensembl	70_37	+1	known	intronic	c.449+15349	e2+15349	0.290	-	-	-	no_errors	CNTLN	HGNC	ENSG00000044459	tier4	1733	0	0	2291	3	0.13077593722755	860	0	0
9	17410013	17410013	T	G	SNP	CNTLN	ENST00000380647	human	ensembl	70_37	+1	known	intronic	c.2796+542	e16+542	0.000	-	-	-	no_errors	CNTLN	HGNC	ENSG00000044459	tier3	1329	0	0	1872	3	0.16	634	1	0.156985871271586
9	17414173	17414173	C	T	SNP	CNTLN	ENST00000380647	human	ensembl	70_37	+1	known	intronic	c.2797-1613	e17-1613	0.000	-	-	-	no_errors	CNTLN	HGNC	ENSG00000044459	tier3	834	0	0	533	410	43.4782608695652	397	80	16.7014613778706
9	17427552	17427552	C	T	SNP	CNTLN	ENST00000380647	human	ensembl	70_37	+1	known	intronic	c.3114+11365	e18+11365	0.066	-	-	-	no_errors	CNTLN	HGNC	ENSG00000044459	tier3	1125	0	0	1434	3	0.208623087621697	618	0	0
9	18039178	18039178	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1939	0	0	1301	1124	46.3314097279472	601	118	16.4116828929068
9	18096517	18096517	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	827	0	0	1040	2	0.191938579654511	322	0	0
9	18413513	18413513	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	838	0	0	1029	25	2.3719165085389	493	0	0
9	19695959	19695959	T	G	SNP	SLC24A2	ENST00000341998	human	ensembl	70_37	-1	known	intronic	c.931-73662	e2-73662	0.019	-	-	-	no_errors	SLC24A2	HGNC	ENSG00000155886	tier4	756	0	0	1040	1	0.0959692898272553	404	2	0.48780487804878
9	20175627	20175627	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1481	0	0	2025	3	0.147856086742238	503	6	1.17878192534381
9	22133849	22133849	T	G	SNP	CDKN2B-AS1	ENST00000421632	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15148	NULL	0.008	-	-	-	no_errors	CDKN2B-AS1	HGNC	ENSG00000240498	tier3	640	0	0	982	1	0.101626016260163	243	3	1.21951219512195
9	23809966	23809966	A	C	SNP	ELAVL2	ENST00000380117	human	ensembl	70_37	-1	known	intronic	c.1+15838	e0+15838	0.001	-	-	-	no_errors	ELAVL2	HGNC	ENSG00000107105	tier3	1362	0	0	1874	3	0.159829515183804	571	1	0.174825174825175
9	23933123	23933123	A	T	SNP	ENSG00000237414	ENST00000446754	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-35069	NULL	0.000	-	-	-	no_errors	RP11-321L2.2	Clone_based_vega_gene	ENSG00000237414	tier3	1068	1	0.0934579439252336	796	644	44.6911866759195	472	133	21.9834710743802
9	24483426	24483426	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1522	0	0	1949	9	0.458481915435558	625	4	0.635930047694754
9	25090204	25090204	T	C	SNP	ENSG00000222693	ENST00000410761	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-1055	NULL	0.000	-	-	-	no_errors	7SK	RFAM	ENSG00000222693	tier3	1677	0	0	1173	934	44.328429046037	689	120	14.760147601476
9	25222000	25222000	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1715	0	0	1760	222	11.1951588502269	649	0	0
9	25280047	25280047	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1215	1	0.0822368421052632	1502	18	1.18421052631579	504	2	0.392156862745098
9	25418176	25418176	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1995	0	0	1470	1115	43.1167826759474	695	114	14.0914709517923
9	25501715	25501715	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	843	0	0	1049	2	0.190294957183635	423	0	0
9	27167154	27167154	G	A	SNP	TEK	ENST00000380036	human	ensembl	70_37	+1	known	intronic	c.365-1339	e3-1339	0.000	-	-	-	no_errors	TEK	HGNC	ENSG00000120156	tier3	1200	1	0.0830564784053156	915	748	44.8979591836735	573	114	16.5938864628821
9	27173339	27173339	A	G	SNP	TEK	ENST00000380036	human	ensembl	70_37	+1	known	missense	c.880	p.K294E	0.997	smart_EG-like_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	TEK	HGNC	ENSG00000120156	tier1	611	0	0	714	2	0.279329608938547	278	4	1.41843971631206
9	28282957	28282957	T	G	SNP	LINGO2	ENST00000379992	human	ensembl	70_37	-1	known	intronic	c.1+12249	e0+12249	0.000	-	-	-	no_errors	LINGO2	HGNC	ENSG00000174482	tier3	946	0	0	1334	1	0.0749063670411985	411	3	0.72463768115942
9	29887326	29887326	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	859	0	0	1044	24	2.24719101123595	366	87	19.1208791208791
9	30461577	30461577	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1243	0	0	1666	5	0.299043062200957	446	3	0.665188470066519
9	30906489	30906489	T	G	SNP	FTLP4	ENST00000430740	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-28994	NULL	0.000	-	-	-	no_coding_region:pseudogene	FTLP4	HGNC	ENSG00000214020	tier3	1334	0	0	1803	3	0.166112956810631	483	2	0.412371134020619
9	31071850	31071850	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	552	0	0	338	272	44.5901639344262	263	61	18.8271604938272
9	31355066	31355066	T	A	SNP	ENSG00000260720	ENST00000562065	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*16543	NULL	0.001	-	-	-	no_errors	RP11-271O3.1	Clone_based_vega_gene	ENSG00000260720	tier3	1355	0	0	1403	146	9.41935483870968	574	0	0
9	31524971	31524971	A	T	SNP	ENSG00000229080	ENST00000426425	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*18358	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-291J9.2	Clone_based_vega_gene	ENSG00000229080	tier4	1515	1	0.0659630606860158	1008	800	44.2233278054174	478	122	20.3333333333333
9	32978468	32978468	G	T	SNP	APTX	ENST00000379819	human	ensembl	70_37	-1	known	intronic	c.813-3909	e7-3909	0.226	-	-	-	no_errors	APTX	HGNC	ENSG00000137074	tier4	809	0	0	1111	4	0.3584229390681	392	0	0
9	33625691	33625691	T	G	SNP	TRBV25OR9-2	ENST00000438417	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36510	NULL	0.006	-	-	-	no_stop_codon	TRBV25OR9-2	HGNC	ENSG00000240215	tier4	91	0	0	134	2	1.45985401459854	21	0	0
9	33698066	33698066	A	G	SNP	ENSG00000260947	ENST00000566968	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.001	-	-	-	no_errors	RP11-384P7.7	Clone_based_vega_gene	ENSG00000260947	tier1	805	0	0	1251	3	0.239234449760766	355	3	0.837988826815642
9	34671565	34671565	G	A	SNP	ENSG00000230074	ENST00000434627	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.049	-	-	-	no_errors	RP11-195F19.9	Clone_based_vega_gene	ENSG00000230074	tier4	1415	1	0.0705716302046577	1082	816	42.9926238145416	583	113	16.235632183908
9	34776084	34776084	T	G	SNP	FAM205A	ENST00000378788	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-46660	NULL	0.468	-	-	-	no_errors	FAM205A	HGNC	ENSG00000205108	tier4	784	0	0	1043	3	0.286806883365201	412	1	0.242130750605327
9	35481817	35481817	A	C	SNP	ATP8B5P	ENST00000329395	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.991	-	-	-	no_errors	ATP8B5P	HGNC	ENSG00000179766	tier1	508	0	0	733	2	0.272108843537415	290	7	2.35690235690236
9	36140659	36140659	C	G	SNP	GLIPR2	ENST00000377960	human	ensembl	70_37	+1	known	intronic	c.13+3871	e1+3871	0.000	-	-	-	no_errors	GLIPR2	HGNC	ENSG00000122694	tier3	593	0	0	490	443	47.4304068522484	308	71	18.1585677749361
9	36167212	36167212	T	G	SNP	CCIN	ENST00000335119	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2288	NULL	0.035	-	-	-	no_errors	CCIN	HGNC	ENSG00000185972	tier4	404	0	0	595	2	0.33500837520938	227	1	0.43859649122807
9	37065825	37065825	A	C	SNP	PAX5	ENST00000358127	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31797	NULL	0.000	-	-	-	no_errors	PAX5	HGNC	ENSG00000196092	tier3	2299	0	0	3474	1	0.0287686996547756	867	2	0.230149597238205
9	37344757	37344757	C	A	SNP	ZCCHC7	ENST00000336755	human	ensembl	70_37	+1	known	intronic	c.988-4597	e6-4597	0.049	-	-	-	no_errors	ZCCHC7	HGNC	ENSG00000147905	tier4	839	0	0	687	460	40.104620749782	399	50	11.1358574610245
9	37344758	37344758	C	A	SNP	ZCCHC7	ENST00000336755	human	ensembl	70_37	+1	known	intronic	c.988-4596	e6-4596	0.401	-	-	-	no_errors	ZCCHC7	HGNC	ENSG00000147905	tier4	826	0	0	679	455	40.1234567901235	390	56	12.5560538116592
9	37646657	37646657	T	G	SNP	ENSG00000255872	ENST00000540557	human	ensembl	70_37	-1	known	intronic	c.894+46482	e3+46482	0.000	-	-	-	no_errors	RP11-613M10.9	Clone_based_vega_gene	ENSG00000255872	tier3	1717	0	0	2478	2	0.0806451612903226	791	0	0
9	37865269	37865269	A	C	SNP	DCAF10	ENST00000242323	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*3764	NULL	0.000	-	-	-	no_errors	DCAF10	HGNC	ENSG00000122741	tier3	1016	0	0	1584	2	0.126103404791929	527	0	0
9	39107720	39107720	T	C	SNP	CNTNAP3	ENST00000297668	human	ensembl	70_37	-1	known	intronic	c.2365+1437	e15+1437	0.171	-	-	-	no_errors	CNTNAP3	HGNC	ENSG00000106714	tier4	587	0	0	392	331	45.7814661134163	320	45	12.2615803814714
9	40291910	40291910	G	A	SNP	ENSG00000185020	ENST00000333554	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15436	NULL	0.002	-	-	-	no_coding_region:pseudogene	RP11-111G23.1	Clone_based_vega_gene	ENSG00000185020	tier3	854	0	0	1181	1	0.0843881856540084	501	68	11.9507908611599
9	66271734	66271734	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1633	0	0	2376	4	0.167926112510495	602	0	0
9	69066665	69066665	T	G	SNP	ENSG00000233961	ENST00000424707	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_coding_region:pseudogene	RP11-87H9.2	Clone_based_vega_gene	ENSG00000233961	tier2	1921	0	0	2348	1	0.042571306939123	1844	3	0.162162162162162
9	69974205	69974205	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1520	0	0	2037	2	0.0978952520802741	889	0	0
9	69974218	69974218	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1363	0	0	1843	2	0.108342361863489	768	0	0
9	70920172	70920172	A	C	SNP	ENSG00000234394	ENST00000414223	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23324	NULL	0.002	-	-	-	no_errors	RP11-561O23.5	Clone_based_vega_gene	ENSG00000234394	tier2	291	0	0	403	3	0.738916256157635	147	0	0
9	70967741	70967741	T	G	SNP	PGM5	ENST00000396396	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-4303	NULL	0.001	-	-	-	no_errors	PGM5	HGNC	ENSG00000154330	tier3	595	0	0	840	2	0.237529691211401	343	1	0.290697674418605
9	72974251	72974251	A	C	SNP	ENSG00000239180	ENST00000459091	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-47634	NULL	0.004	-	-	-	no_errors	Y_RNA	RFAM	ENSG00000239180	tier4	1005	0	0	1608	2	0.124223602484472	435	0	0
9	72995577	72995577	G	T	SNP	SMC5	ENST00000361138	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*28330	NULL	0.053	-	-	-	no_errors	SMC5	HGNC	ENSG00000198887	tier4	291	0	0	399	3	0.746268656716418	141	7	4.72972972972973
9	74669201	74669201	A	C	SNP	C9orf57	ENST00000377024	human	ensembl	70_37	-1	known	intronic	c.346+1789	e4+1789	0.000	-	-	-	no_errors	C9orf57	HGNC	ENSG00000204669	tier4	1023	0	0	1620	2	0.123152709359606	501	2	0.394477317554241
9	75503568	75503568	T	G	SNP	ENSG00000236849	ENST00000423171	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14584	NULL	0.000	-	-	-	no_errors	RP11-151D14.1	Clone_based_vega_gene	ENSG00000236849	tier3	554	0	0	797	3	0.375	258	2	0.769230769230769
9	75648638	75648638	A	G	SNP	ALDH1A1	ENST00000419959	human	ensembl	70_37	-1	known	intronic	c.1+46645	e0+46645	0.001	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	ALDH1A1	HGNC	ENSG00000165092	tier3	909	0	0	1295	3	0.231124807395994	363	2	0.547945205479452
9	76130332	76130332	C	A	SNP	ENSG00000221844	ENST00000416030	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39343	NULL	0.199	-	-	-	no_coding_region:pseudogene	RP11-404E6.1	Clone_based_vega_gene	ENSG00000221844	tier3	833	1	0.119760479041916	1139	1	0.087719298245614	343	8	2.27920227920228
9	78416694	78416694	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	553	0	0	784	3	0.381194409148666	225	3	1.31578947368421
9	78649186	78649186	A	C	SNP	PCSK5	ENST00000545128	human	ensembl	70_37	+1	known	intronic	c.632+7233	e5+7233	0.000	-	-	-	no_errors	PCSK5	HGNC	ENSG00000099139	tier3	934	0	0	1289	2	0.154798761609907	444	0	0
9	79863654	79863654	G	T	SNP	VPS13A	ENST00000360280	human	ensembl	70_37	+1	known	intronic	c.2037+1343	e20+1343	0.092	-	-	-	no_errors	VPS13A	HGNC	ENSG00000197969	tier4	394	0	0	534	3	0.558659217877095	207	2	0.952380952380952
9	79940964	79940964	T	G	SNP	VPS13A	ENST00000360280	human	ensembl	70_37	+1	known	intronic	c.5991+2821	e45+2821	0.004	-	-	-	no_errors	VPS13A	HGNC	ENSG00000197969	tier4	767	0	0	1067	3	0.280373831775701	362	0	0
9	81036655	81036655	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1012	0	0	1426	2	0.139470013947001	489	2	0.407331975560081
9	81085747	81085747	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1410	0	0	1845	2	0.108283703302653	569	0	0
9	81437184	81437184	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	706	0	0	971	4	0.41025641025641	349	1	0.285714285714286
9	81574744	81574744	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	913	2	0.218579234972678	567	419	42.451874366768	325	87	21.1165048543689
9	82691453	82691453	G	A	SNP	ENSG00000230945	ENST00000417801	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*41983	NULL	0.987	-	-	-	no_errors	RP11-394O9.1	Clone_based_vega_gene	ENSG00000230945	tier3	1176	0	0	788	606	43.4408602150538	415	72	14.7843942505133
9	82769338	82769338	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	762	0	0	963	4	0.413650465356774	344	4	1.14942528735632
9	82799397	82799397	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1870	0	0	2625	3	0.114025085518814	440	0	0
9	83926795	83926795	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1162	0	0	825	857	50.9512485136742	446	124	21.7543859649123
9	83989705	83989705	G	A	SNP	ENSG00000228375	ENST00000412447	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35489	NULL	0.987	-	-	-	no_coding_region:pseudogene	RP11-232A1.1	Clone_based_vega_gene	ENSG00000228375	tier3	924	0	0	674	467	40.8931698774081	481	76	13.6445242369838
9	87204787	87204787	C	T	SNP	ENSG00000228095	ENST00000419515	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14239	NULL	0.007	-	-	-	no_coding_region:pseudogene	RP11-361M4.1	Clone_based_vega_gene	ENSG00000228095	tier3	1039	0	0	1184	191	13.8909090909091	552	4	0.719424460431655
9	87317229	87317229	G	A	SNP	NTRK2	ENST00000277120	human	ensembl	70_37	+1	known	intronic	c.288-34	e3-34	0.128	-	-	-	no_errors	NTRK2	HGNC	ENSG00000148053	tier3	754	1	0.132450331125828	471	410	46.5380249716232	348	50	12.4378109452736
9	87536581	87536581	A	G	SNP	NTRK2	ENST00000277120	human	ensembl	70_37	+1	known	intronic	c.1634-12496	e14-12496	0.001	-	-	-	no_errors	NTRK2	HGNC	ENSG00000148053	tier3	613	0	0	799	1	0.125	313	3	0.949367088607595
9	87758785	87758785	C	A	SNP	ENSG00000226590	ENST00000414685	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15812	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-323N23.1	Clone_based_vega_gene	ENSG00000226590	tier3	761	0	0	516	351	40.4844290657439	335	48	12.532637075718
9	88530034	88530034	T	C	SNP	NAA35	ENST00000361671	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27041	NULL	0.000	-	-	-	no_errors	NAA35	HGNC	ENSG00000135040	tier3	492	0	0	683	4	0.582241630276565	296	2	0.671140939597315
9	89409439	89409439	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	711	0	0	846	1	0.118063754427391	299	7	2.28758169934641
9	89862996	89862996	T	G	SNP	ENSG00000212421	ENST00000391119	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-12369	NULL	0.000	-	-	-	no_errors	SNORA26	RFAM	ENSG00000212421	tier3	1022	0	0	1479	3	0.202429149797571	415	1	0.240384615384615
9	90001842	90001842	T	G	SNP	ENSG00000228373	ENST00000454946	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36704	NULL	0.002	-	-	-	no_coding_region:pseudogene	RP11-497K15.1	Clone_based_vega_gene	ENSG00000228373	tier3	1005	0	0	1346	2	0.148257968865827	430	0	0
9	91236987	91236987	A	G	SNP	NXNL2	ENST00000487646	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*77525	NULL	0.005	-	-	-	no_errors	NXNL2	HGNC	ENSG00000130045	tier4	596	0	0	784	2	0.254452926208651	313	0	0
9	91304237	91304237	C	G	SNP	ENSG00000228189	ENST00000418343	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37186	NULL	0.507	-	-	-	no_errors	RP13-60M5.2	Clone_based_vega_gene	ENSG00000228189	tier4	1258	0	0	1802	2	0.110741971207087	637	0	0
9	92282445	92282445	A	T	SNP	ENSG00000237372	ENST00000444374	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-34121	NULL	0.000	-	-	-	no_errors	RP11-316P17.2	Clone_based_vega_gene	ENSG00000237372	tier4	3166	1	0.0315159155373464	2417	2047	45.82493843743	664	142	17.487684729064
9	93736994	93736994	A	C	SNP	ENSG00000228216	ENST00000427745	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-9319	NULL	0.002	-	-	-	no_errors	RP11-367F23.1	Clone_based_vega_gene	ENSG00000228216	tier3	534	0	0	601	3	0.496688741721854	229	0	0
9	94406104	94406104	G	A	SNP	ROR2	ENST00000375715	human	ensembl	70_37	-1	putative	intronic	c.2115+50498	e10+50498	1.000	-	-	-	no_errors	ROR2	HGNC	ENSG00000169071	tier2	801	0	0	522	489	48.3679525222552	399	76	15.9329140461216
9	96695039	96695039	T	G	SNP	ENSG00000235601	ENST00000453045	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23077	NULL	0.033	-	-	-	no_errors	RP11-231K24.2	Clone_based_vega_gene	ENSG00000235601	tier4	380	0	0	508	3	0.587084148727984	183	0	0
9	100319155	100319155	A	G	SNP	TMOD1	ENST00000259365	human	ensembl	70_37	+1	known	intronic	c.397+3473	e3+3473	0.000	-	-	-	no_errors	TMOD1	HGNC	ENSG00000136842	tier3	662	0	0	977	2	0.204290091930541	311	1	0.320512820512821
9	101393124	101393124	T	G	SNP	GABBR2	ENST00000259455	human	ensembl	70_37	-1	known	intronic	c.322-52770	e2-52770	0.000	-	-	-	no_errors	GABBR2	HGNC	ENSG00000136928	tier4	840	0	0	1180	2	0.168918918918919	444	0	0
9	101529027	101529027	A	T	SNP	ANKS6	ENST00000375018	human	ensembl	70_37	-1	known	intronic	c.2142+1336	e11+1336	0.000	-	-	-	no_errors	ANKS6	HGNC	ENSG00000165138	tier3	1374	2	0.145348837209302	979	889	47.5910064239829	451	100	18.1488203266788
9	101680253	101680253	A	G	SNP	COL15A1	ENST00000375001	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26091	NULL	0.000	-	-	-	no_errors	COL15A1	HGNC	ENSG00000204291	tier3	513	0	0	314	223	41.3729128014842	213	31	12.7049180327869
9	101798811	101798811	A	C	SNP	COL15A1	ENST00000375001	human	ensembl	70_37	+1	known	intronic	c.2409+133	e21+133	0.001	-	-	-	no_errors	COL15A1	HGNC	ENSG00000204291	tier2	426	0	0	595	3	0.501672240802676	192	0	0
9	103554922	103554922	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1676	0	0	2390	10	0.416666666666667	616	1	0.162074554294976
9	103726562	103726562	A	G	SNP	GAPDHP26	ENST00000436818	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11388	NULL	0.002	-	-	-	no_coding_region:pseudogene	GAPDHP26	HGNC	ENSG00000229541	tier4	336	0	0	411	3	0.72463768115942	183	0	0
9	103937804	103937804	G	A	SNP	LPPR1	ENST00000374874	human	ensembl	70_37	+1	known	intronic	c.1-9928	e1-9928	0.000	-	-	-	no_errors	LPPR1	Uniprot_genename	ENSG00000148123	tier3	1038	0	0	1245	31	2.4275646045419	437	0	0
9	105512148	105512148	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1571	0	0	2018	4	0.19782393669634	597	4	0.665557404326123
9	105617175	105617175	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1172	0	0	857	639	42.628418945964	520	103	16.5064102564103
9	106093175	106093175	G	T	SNP	ENSG00000225564	ENST00000411575	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5859	NULL	0.000	-	-	-	no_errors	RP11-341A22.2	Clone_based_vega_gene	ENSG00000225564	tier3	1531	1	0.0652741514360313	1066	750	41.2995594713656	589	114	16.2162162162162
9	106093176	106093176	C	A	SNP	ENSG00000225564	ENST00000411575	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5860	NULL	0.000	-	-	-	no_errors	RP11-341A22.2	Clone_based_vega_gene	ENSG00000225564	tier3	1528	1	0.065402223675605	1066	746	41.1699779249448	585	111	15.948275862069
9	106263104	106263104	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	814	0	0	955	58	5.72556762092794	340	0	0
9	106758347	106758347	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	363	0	0	231	205	47.0183486238532	166	26	13.5416666666667
9	107009564	107009564	T	A	SNP	ENSG00000242111	ENST00000469756	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22967	NULL	0.000	-	-	-	no_errors	RP11-86L19.2	Clone_based_vega_gene	ENSG00000242111	tier3	867	0	0	1174	5	0.424088210347752	420	0	0
9	109155434	109155434	C	A	SNP	ENSG00000234323	ENST00000435485	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-308N19.1	Clone_based_vega_gene	ENSG00000234323	tier4	507	0	0	663	2	0.300751879699248	297	4	1.31147540983607
9	109310509	109310509	T	G	SNP	ENSG00000234323	ENST00000425709	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.218	-	-	-	no_errors	RP11-308N19.1	Clone_based_vega_gene	ENSG00000234323	tier4	1257	0	0	1847	1	0.0541125541125541	606	3	0.492610837438424
9	109674338	109674338	C	T	SNP	ZNF462	ENST00000457913	human	ensembl	70_37	+1	known	intronic	c.1-11297	e1-11297	0.000	-	-	-	no_errors	ZNF462	HGNC	ENSG00000148143	tier3	1176	0	0	1000	437	30.410577592206	538	0	0
9	110131208	110131208	G	C	SNP	RAD23B	ENST00000358015	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*39271	NULL	0.000	-	-	-	no_errors	RAD23B	HGNC	ENSG00000119318	tier4	823	0	0	1280	2	0.15552099533437	466	0	0
9	110670691	110670691	G	C	SNP	RNA5SP293	ENST00000410527	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*10456	NULL	0.001	-	-	-	no_errors	RNA5SP293	HGNC	ENSG00000222459	tier4	761	0	0	1040	3	0.28735632183908	385	5	1.25628140703518
9	110721183	110721183	T	C	SNP	RNA5SP293	ENST00000410527	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39924	NULL	0.053	-	-	-	no_errors	RNA5SP293	HGNC	ENSG00000222459	tier3	1036	0	0	1427	3	0.203804347826087	483	0	0
9	111789894	111789894	G	C	SNP	TMEM245	ENST00000374586	human	ensembl	70_37	-1	known	intronic	c.2594+5693	e17+5693	0.035	-	-	-	no_errors	TMEM245	HGNC	ENSG00000106771	tier4	550	0	0	835	7	0.829383886255924	274	0	0
9	112648243	112648243	A	C	SNP	PALM2-AKAP2	ENST00000374530	human	ensembl	70_37	+1	known	intronic	c.257+5282	e3+5282	0.001	-	-	-	no_errors	PALM2-AKAP2	HGNC	ENSG00000157654	tier3	928	0	0	1239	2	0.161030595813205	437	0	0
9	113234426	113234426	A	G	SNP	SVEP1	ENST00000401783	human	ensembl	70_37	-1	known	intronic	c.2764+13	e15+13	0.000	-	-	-	no_errors	SVEP1	HGNC	ENSG00000165124	tier3	1519	1	0.0657894736842105	1078	756	41.2213740458015	607	125	17.0299727520436
9	114781145	114781145	T	G	SNP	ENSG00000222356	ENST00000410424	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-22126	NULL	0.016	-	-	-	no_errors	U6	RFAM	ENSG00000222356	tier3	1201	0	0	1823	3	0.164203612479475	560	1	0.17825311942959
9	114939829	114939829	A	C	SNP	SUSD1	ENST00000374264	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2314	NULL	0.761	-	-	-	no_errors	SUSD1	HGNC	ENSG00000106868	tier3	1251	0	0	2001	4	0.199401794616152	598	0	0
9	115250340	115250340	T	A	SNP	KIAA1958	ENST00000536272	human	ensembl	70_37	+1	known	intronic	c.1+942	e0+942	0.064	-	-	-	no_errors	KIAA1958	HGNC	ENSG00000165185	tier3	612	0	0	894	2	0.223214285714286	368	6	1.60427807486631
9	117465095	117465095	G	A	SNP	LOC100996601	ENST00000415101	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40441	NULL	0.116	-	-	-	no_errors	RP11-402G3.5	Clone_based_vega_gene	ENSG00000230054	tier4	490	1	0.203252032520325	378	317	45.6115107913669	161	49	23.1132075471698
9	118076591	118076591	A	G	SNP	DEC1	ENST00000477580	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.049	-	-	-	no_errors	DEC1	HGNC	ENSG00000173077	tier1	782	0	0	1061	2	0.18796992481203	283	0	0
9	118641392	118641392	T	G	SNP	LINC00474	ENST00000374014	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*9056	NULL	0.000	-	-	-	no_errors	LINC00474	HGNC	ENSG00000204148	tier3	1192	1	0.0838222967309304	818	758	48.0659480025365	490	101	17.0896785109983
9	118775286	118775286	A	G	SNP	ENSG00000228707	ENST00000416507	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42	NULL	0.001	-	-	-	no_errors	RP11-787B4.2	Clone_based_vega_gene	ENSG00000228707	tier4	837	0	0	980	2	0.203665987780041	418	1	0.238663484486874
9	118891268	118891268	T	C	SNP	PAPPA	ENST00000328252	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25184	NULL	0.006	-	-	-	no_errors	PAPPA	HGNC	ENSG00000182752	tier4	651	0	0	840	6	0.709219858156028	322	1	0.309597523219814
9	120086405	120086405	A	C	SNP	ASTN2	ENST00000313400	human	ensembl	70_37	-1	known	intronic	c.443-32613	e2-32613	0.000	-	-	-	no_errors	ASTN2	HGNC	ENSG00000148219	tier4	752	0	0	940	1	0.106269925611052	314	2	0.632911392405063
9	120651860	120651860	A	T	SNP	ENSG00000231901	ENST00000449730	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-281A20.1	Clone_based_vega_gene	ENSG00000231901	tier4	760	0	0	961	2	0.20746887966805	334	1	0.298507462686567
9	120914527	120914527	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1173	1	0.0851063829787234	802	655	44.9245541838134	439	108	19.7440585009141
9	122085896	122085896	A	C	SNP	DBC1	ENST00000265922	human	ensembl	70_37	-1	known	intronic	c.1-10213	e1-10213	0.000	-	-	-	no_errors	DBC1	HGNC	ENSG00000078725	tier4	1286	0	0	1792	2	0.11142061281337	599	0	0
9	122498650	122498650	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	942	1	0.105932203389831	654	516	44.0273037542662	363	79	17.7927927927928
9	122797076	122797076	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1166	4	0.341880341880342	1430	39	2.65486725663717	518	3	0.575815738963532
9	124037177	124037177	G	T	SNP	GSN	ENST00000394353	human	ensembl	70_37	+1	known	intronic	c.1-6571	e1-6571	0.721	-	-	-	no_errors	GSN	HGNC	ENSG00000148180	tier4	479	1	0.208333333333333	462	247	34.8377997179126	272	0	0
9	127817347	127817347	A	C	SNP	SCAI	ENST00000373549	human	ensembl	70_37	-1	known	intronic	c.299+808	e4+808	0.115	-	-	-	no_errors	SCAI	HGNC	ENSG00000173611	tier3	1215	0	0	2068	3	0.144857556735876	588	0	0
9	127856626	127856626	T	C	SNP	SCAI	ENST00000373549	human	ensembl	70_37	-1	known	intronic	c.99-28289	e3-28289	0.033	-	-	-	no_errors	SCAI	HGNC	ENSG00000173611	tier4	390	0	0	579	2	0.344234079173838	292	0	0
9	128107106	128107106	G	T	SNP	GAPVD1	ENST00000394105	human	ensembl	70_37	+1	known	intronic	c.3128-1992	e18-1992	0.001	-	-	-	no_errors	GAPVD1	HGNC	ENSG00000165219	tier3	841	0	0	1392	4	0.286532951289398	400	0	0
9	128343089	128343089	C	T	SNP	MAPKAP1	ENST00000265960	human	ensembl	70_37	-1	known	intronic	c.671+4745	e4+4745	0.238	-	-	-	no_errors	MAPKAP1	HGNC	ENSG00000119487	tier4	912	0	0	1232	1	0.08110300081103	425	35	7.60869565217391
9	130290388	130290388	T	G	SNP	FAM129B	ENST00000373312	human	ensembl	70_37	-1	known	intronic	c.187-787	e3-787	0.000	-	-	-	no_errors	FAM129B	HGNC	ENSG00000136830	tier3	300	0	0	506	2	0.393700787401575	213	0	0
9	131279343	131279343	T	G	SNP	GLE1	ENST00000309971	human	ensembl	70_37	+1	known	intronic	c.432+1425	e3+1425	0.384	-	-	-	no_errors	GLE1	HGNC	ENSG00000119392	tier4	1243	0	0	2182	3	0.137236962488564	395	0	0
9	134412032	134412032	G	C	SNP	UCK1	ENST00000372211	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5471	NULL	0.007	-	-	-	no_errors	UCK1	HGNC	ENSG00000130717	tier4	690	0	0	1098	10	0.901713255184851	380	8	2.03562340966921
9	134605064	134605064	A	C	SNP	RAPGEF1	ENST00000357686	human	ensembl	70_37	-1	known	intronic	c.61+10093	e1+10093	0.027	-	-	-	no_errors	RAPGEF1	HGNC	ENSG00000107263	tier4	519	0	0	807	4	0.493218249075216	332	1	0.3003003003003
9	134924464	134924464	G	A	SNP	MED27	ENST00000292035	human	ensembl	70_37	-1	known	intronic	c.348+28365	e2+28365	0.866	-	-	-	no_errors	MED27	HGNC	ENSG00000160563	tier3	767	27	3.40050377833753	525	454	46.3265306122449	311	77	19.8453608247423
9	135385742	135385742	C	T	SNP	C9orf171	ENST00000343036	human	ensembl	70_37	+1	known	intronic	c.632+10755	e4+10755	0.001	-	-	-	no_errors	C9orf171	HGNC	ENSG00000188523	tier3	306	0	0	229	167	42.1717171717172	134	21	13.5483870967742
9	136736824	136736824	A	C	SNP	VAV2	ENST00000371850	human	ensembl	70_37	-1	known	intronic	c.322-10270	e3-10270	0.000	-	-	-	no_errors	VAV2	HGNC	ENSG00000160293	tier4	460	0	0	703	3	0.424929178470255	240	0	0
9	137704747	137704747	T	G	SNP	COL5A1	ENST00000371817	human	ensembl	70_37	+1	known	intronic	c.3852+189	e48+189	0.000	-	-	-	no_errors	COL5A1	HGNC	ENSG00000130635	tier3	578	0	0	768	3	0.389105058365759	285	0	0
9	137843241	137843241	A	T	SNP	FCN1	ENST00000371806	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33524	NULL	0.000	-	-	-	no_errors	FCN1	HGNC	ENSG00000085265	tier3	589	0	0	387	325	45.6460674157303	239	69	22.1864951768489
9	140250178	140250178	G	A	SNP	EXD3	ENST00000340951	human	ensembl	70_37	-1	known	intronic	c.757+542	e7+542	0.189	-	-	-	no_errors	EXD3	HGNC	ENSG00000187609	tier4	557	0	0	969	1	0.102986611740474	311	4	1.25391849529781
9	140292631	140292631	G	A	SNP	EXD3	ENST00000340951	human	ensembl	70_37	-1	known	intronic	c.1-2775	e1-2775	0.000	-	-	-	no_errors	EXD3	HGNC	ENSG00000187609	tier3	469	0	0	397	352	46.9959946595461	195	42	17.4273858921162
9	140705003	140705003	A	T	SNP	EHMT1	ENST00000460843	human	ensembl	70_37	+1	known	intronic	c.2713-910	e19-910	0.012	-	-	-	no_errors	EHMT1	HGNC	ENSG00000181090	tier3	689	0	0	913	2	0.218579234972678	397	0	0
10	720124	720124	G	A	SNP	DIP2C	ENST00000280886	human	ensembl	70_37	-1	known	intronic	c.85+15310	e1+15310	0.058	-	-	-	no_errors	DIP2C	HGNC	ENSG00000151240	tier4	970	0	0	1195	4	0.333611342785655	390	2	0.50251256281407
10	3067396	3067396	G	T	SNP	PFKP	ENST00000381125	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-42392	NULL	0.001	-	-	-	no_errors	PFKP	HGNC	ENSG00000067057	tier3	1079	0	0	1474	3	0.20297699594046	505	2	0.394477317554241
10	3601520	3601520	G	T	SNP	ENSG00000236892	ENST00000413757	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22471	NULL	0.000	-	-	-	no_errors	RP11-482E14.2	Clone_based_vega_gene	ENSG00000236892	tier3	616	0	0	790	1	0.126262626262626	294	5	1.67224080267559
10	4952973	4952973	T	C	SNP	AKR1C1	ENST00000434459	human	ensembl	70_37	+1	known	intronic	c.1+1175	e0+1175	0.071	-	-	-	no_errors	AKR1C1	HGNC	ENSG00000187134	tier4	219	0	0	312	2	0.634920634920635	102	1	0.970873786407767
10	5100819	5100819	C	T	SNP	AKR1C3	ENST00000470862	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AKR1C3	HGNC	ENSG00000196139	tier4	421	0	0	367	220	37.4787052810903	210	26	11.0169491525424
10	8651951	8651951	T	A	SNP	ENSG00000236420	ENST00000425516	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9945	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-33K5.1	Clone_based_vega_gene	ENSG00000236420	tier4	1033	0	0	1310	4	0.30441400304414	351	2	0.56657223796034
10	8662119	8662119	C	A	SNP	ENSG00000236420	ENST00000425516	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*8662119	NULL	0.003	-	-	-	no_coding_region:pseudogene	RP11-33K5.1	Clone_based_vega_gene	ENSG00000236420	tier3	800	2	0.249376558603491	463	475	50.6396588486141	350	66	15.8653846153846
10	9397525	9397525	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	944	0	0	1297	9	0.689127105666156	451	5	1.09170305676856
10	9570421	9570421	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1271	0	0	1686	3	0.177619893428064	581	0	0
10	13759012	13759012	T	G	SNP	FRMD4A	ENST00000357447	human	ensembl	70_37	-1	known	intronic	c.760-9899	e12-9899	0.000	-	-	-	no_errors	FRMD4A	HGNC	ENSG00000151474	tier3	670	0	0	1010	3	0.296150049358342	431	2	0.46189376443418
10	18448907	18448907	A	T	SNP	CACNB2	ENST00000324631	human	ensembl	70_37	+1	known	intronic	c.213+9003	e2+9003	0.001	-	-	-	no_errors	CACNB2	HGNC	ENSG00000165995	tier3	1615	2	0.123609394313968	1223	874	41.6587225929457	584	108	15.606936416185
10	19384821	19384821	C	T	SNP	ENSG00000226255	ENST00000434717	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*43722	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-288D15.2	Clone_based_vega_gene	ENSG00000226255	tier3	870	1	0.114810562571757	994	161	13.9393939393939	441	0	0
10	19816978	19816978	T	A	SNP	C10orf112	ENST00000454679	human	ensembl	70_37	+1	known	intronic	c.3419-3145	e18-3145	0.082	-	-	-	no_errors	C10orf112	HGNC	ENSG00000204740	tier3	1162	0	0	1618	4	0.246305418719212	445	1	0.223713646532438
10	20340323	20340323	A	T	SNP	PLXDC2	ENST00000377252	human	ensembl	70_37	+1	known	intronic	c.471+4379	e3+4379	0.001	-	-	-	no_errors	PLXDC2	HGNC	ENSG00000120594	tier4	573	0	0	769	2	0.259403372243839	211	0	0
10	21868065	21868065	G	T	SNP	MLLT10	ENST00000307729	human	ensembl	70_37	+1	known	intronic	c.241-7158	e3-7158	0.019	-	-	-	no_errors	MLLT10	HGNC	ENSG00000078403	tier4	1355	3	0.220913107511046	1081	893	45.2380952380952	542	166	23.3802816901408
10	22213599	22213599	C	T	SNP	DNAJC1	ENST00000376980	human	ensembl	70_37	-1	known	intronic	c.372-3707	e4-3707	0.001	-	-	-	no_errors	DNAJC1	HGNC	ENSG00000136770	tier3	895	0	0	939	396	29.6407185628743	456	0	0
10	24409277	24409277	C	T	SNP	KIAA1217	ENST00000376462	human	ensembl	70_37	+1	putative	intronic	c.1-99278	e1-99278	0.000	-	-	-	no_errors	KIAA1217	HGNC	ENSG00000120549	tier3	1420	0	0	1350	535	28.3819628647215	689	0	0
10	24664080	24664080	T	G	SNP	KIAA1217	ENST00000376454	human	ensembl	70_37	+1	known	intronic	c.355-5718	e3-5718	0.107	-	-	-	no_errors	KIAA1217	HGNC	ENSG00000120549	tier3	353	0	0	475	2	0.419287211740042	175	2	1.11731843575419
10	25926749	25926749	T	C	SNP	LOC100507531	ENST00000450270	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13955	NULL	0.001	-	-	-	no_errors	RP11-307B23.1	Clone_based_vega_gene	ENSG00000228690	tier4	803	0	0	1087	4	0.366636113657195	282	0	0
10	26306226	26306226	T	G	SNP	MYO3A	ENST00000265944	human	ensembl	70_37	+1	known	intronic	c.585+401	e5+401	0.001	-	-	-	no_errors	MYO3A	HGNC	ENSG00000095777	tier3	724	0	0	1056	3	0.283018867924528	347	1	0.285714285714286
10	26626086	26626086	T	C	SNP	GAD2	ENST00000259271	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*36196	NULL	0.001	-	-	-	no_errors	GAD2	HGNC	ENSG00000136750	tier3	658	0	0	953	2	0.209424083769634	322	0	0
10	26978026	26978026	G	T	SNP	PDSS1	ENST00000376215	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8615	NULL	0.001	-	-	-	no_errors	PDSS1	HGNC	ENSG00000148459	tier3	684	0	0	997	2	0.2002002002002	326	4	1.20481927710843
10	28093699	28093699	T	G	SNP	ARMC4	ENST00000537576	human	ensembl	70_37	-1	known	intronic	c.2098-3918	e14-3918	0.002	-	-	-	no_errors	ARMC4	HGNC	ENSG00000169126	tier3	1381	0	0	1754	1	0.056980056980057	719	4	0.553250345781466
10	28741611	28741611	A	G	SNP	ENSG00000237128	ENST00000421132	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.065	-	-	-	no_errors	RP11-351M16.3	Clone_based_vega_gene	ENSG00000237128	tier4	1336	0	0	1903	2	0.10498687664042	527	1	0.188679245283019
10	29090407	29090407	A	C	SNP	C10orf126	ENST00000375520	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45763	NULL	0.008	-	-	-	no_errors	C10orf126	HGNC	ENSG00000204365	tier4	1771	0	0	2425	2	0.0823723228995058	617	0	0
10	30300247	30300247	T	C	SNP	KIAA1462	ENST00000375377	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*6565	NULL	0.001	-	-	-	no_errors	KIAA1462	HGNC	ENSG00000165757	tier3	427	0	0	627	4	0.632911392405063	306	2	0.649350649350649
10	30307689	30307689	T	C	SNP	KIAA1462	ENST00000375377	human	ensembl	70_37	-1	known	intronic	c.4046-843	e3-843	0.075	-	-	-	no_errors	KIAA1462	HGNC	ENSG00000165757	tier3	410	0	0	582	1	0.171526586620926	234	4	1.68067226890756
10	30981210	30981210	T	G	SNP	ENSG00000234814	ENST00000422642	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-14C22.4	Clone_based_vega_gene	ENSG00000234814	tier4	1262	0	0	931	912	49.4577006507592	574	149	20.6085753803596
10	31149265	31149265	T	C	SNP	ZNF438	ENST00000361310	human	ensembl	70_37	-1	known	intronic	c.38-9969	e2-9969	0.031	-	-	-	no_errors	ZNF438	HGNC	ENSG00000183621	tier4	919	0	0	672	511	43.1952662721893	346	109	23.7472766884532
10	31528139	31528139	A	G	SNP	RNA5SP309	ENST00000516670	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20389	NULL	0.362	-	-	-	no_errors	RNA5SP309	HGNC	ENSG00000252479	tier4	929	0	0	1284	3	0.232919254658385	575	0	0
10	31693279	31693279	A	C	SNP	ZEB1	ENST00000361642	human	ensembl	70_37	+1	known	intronic	c.59-56687	e2-56687	0.010	-	-	-	no_errors	ZEB1	HGNC	ENSG00000148516	tier3	858	0	0	1309	1	0.0763358778625954	390	3	0.763358778625954
10	31768612	31768612	A	C	SNP	ZEB1	ENST00000361642	human	ensembl	70_37	+1	known	intronic	c.260-16093	e3-16093	0.005	-	-	-	no_errors	ZEB1	HGNC	ENSG00000148516	tier3	1048	0	0	785	669	46.0110041265475	473	104	18.0242634315425
10	32542649	32542649	T	G	SNP	ENSG00000227253	ENST00000415731	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12568	NULL	0.000	-	-	-	no_errors	RP11-166N17.1	Clone_based_vega_gene	ENSG00000227253	tier3	892	0	0	1393	2	0.143266475644699	371	0	0
10	32983360	32983360	T	A	SNP	C10orf68	ENST00000375025	human	ensembl	70_37	+1	known	intronic	c.266-447	e4-447	0.125	-	-	-	no_errors	C10orf68	HGNC	ENSG00000150076	tier4	574	0	0	647	76	10.5117565698479	382	2	0.520833333333333
10	33446317	33446317	C	T	SNP	ENSG00000233387	ENST00000414308	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40717	NULL	0.000	-	-	-	no_errors	RP11-342D11.3	Clone_based_vega_gene	ENSG00000233387	tier3	857	2	0.232828870779977	564	434	43.4869739478958	396	81	16.9811320754717
10	35192720	35192720	A	C	SNP	ENSG00000222909	ENST00000410977	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-39177	NULL	0.014	-	-	-	no_errors	U6	RFAM	ENSG00000222909	tier4	1425	0	0	2276	5	0.219202104340202	766	0	0
10	36805960	36805960	C	A	SNP	NAMPTL	ENST00000543053	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*5784	NULL	0.079	-	-	-	no_errors	NAMPTL	HGNC	ENSG00000229644	tier4	2090	0	0	2992	2	0.0667779632721202	758	0	0
10	37913073	37913073	T	G	SNP	MTRNR2L7	ENST00000544824	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22101	NULL	0.109	-	-	-	no_errors	MTRNR2L7	HGNC	ENSG00000256892	tier4	2811	0	0	3789	2	0.0527426160337553	753	0	0
10	38563836	38563836	G	C	SNP	ENSG00000226113	ENST00000450980	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-672F9.1	Clone_based_vega_gene	ENSG00000226113	tier3	1526	0	0	2035	2	0.0981836033382425	711	0	0
10	38777958	38777958	A	G	SNP	CICP9	ENST00000444451	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33665	NULL	0.000	-	-	-	no_coding_region:pseudogene	CICP9	HGNC	ENSG00000228882	tier4	1292	0	0	1888	2	0.105764145954521	553	0	0
10	39079760	39079760	T	G	SNP	ENSG00000227679	ENST00000423458	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24138	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-453N3.1	Clone_based_vega_gene	ENSG00000227679	tier4	526	0	0	580	2	0.340715502555366	275	0	0
10	39112178	39112178	T	C	SNP	ENSG00000233832	ENST00000427864	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*35939	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-96F8.1	Clone_based_vega_gene	ENSG00000233832	tier4	407	0	0	567	2	0.351493848857645	256	0	0
10	39112260	39112260	C	A	SNP	ENSG00000233832	ENST00000427864	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*36021	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-96F8.1	Clone_based_vega_gene	ENSG00000233832	tier4	369	0	0	511	3	0.568181818181818	236	4	1.61943319838057
10	39128618	39128618	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	298	0	0	338	2	0.588235294117647	187	0	0
10	39139100	39139100	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	674	0	0	886	3	0.337457817772778	409	0	0
10	42356574	42356574	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	572	0	0	696	2	0.286532951289398	316	0	0
10	42356636	42356636	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	395	0	0	483	2	0.411522633744856	207	0	0
10	42358577	42358577	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	137	0	0	196	3	1.5	67	0	0
10	42358586	42358586	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	149	0	0	207	2	0.943396226415094	81	0	0
10	42358638	42358638	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	413	0	0	533	2	0.37037037037037	189	6	2.98507462686567
10	42361063	42361063	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	113	0	0	141	2	1.3986013986014	42	0	0
10	42363281	42363281	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	124	0	0	149	3	1.97368421052632	71	0	0
10	42375900	42375900	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	107	0	0	157	3	1.875	84	2	2.32558139534884
10	42378277	42378277	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	823	0	0	1029	1	0.0969932104752667	520	4	0.763358778625954
10	42380449	42380449	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	214	0	0	282	3	1.05263157894737	111	0	0
10	42380456	42380456	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	212	0	0	276	2	0.719424460431655	122	0	0
10	42380494	42380494	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	105	0	0	142	3	2.06896551724138	71	0	0
10	42399256	42399256	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	931	0	0	1366	3	0.218978102189781	638	4	0.619195046439629
10	42399654	42399654	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	377	0	0	575	3	0.519031141868512	234	0	0
10	42407387	42407387	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	225	0	0	245	2	0.809716599190283	129	0	0
10	42408074	42408074	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	388	0	0	668	3	0.447093889716841	332	0	0
10	42531931	42531931	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	72	0	0	111	2	1.76991150442478	80	0	0
10	42531938	42531938	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	77	0	0	115	2	1.70940170940171	78	0	0
10	42531953	42531953	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	71	0	0	123	2	1.6	83	0	0
10	42532009	42532009	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	55	0	0	99	2	1.98019801980198	55	0	0
10	42538579	42538579	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	950	0	0	1206	2	0.165425971877585	436	2	0.45662100456621
10	42797611	42797611	A	C	SNP	PABPC1P8	ENST00000452851	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-20344	NULL	0.000	-	-	-	no_coding_region:pseudogene	PABPC1P8	HGNC	ENSG00000228755	tier4	457	0	0	605	2	0.329489291598023	216	0	0
10	44046392	44046392	A	T	SNP	ZNF239	ENST00000306006	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*5759	NULL	0.041	-	-	-	no_errors	ZNF239	HGNC	ENSG00000196793	tier4	500	0	0	714	3	0.418410041841004	344	2	0.578034682080925
10	44319834	44319834	G	A	SNP	LINC00619	ENST00000374432	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20920	NULL	0.000	-	-	-	no_errors	LINC00619	HGNC	ENSG00000204187	tier2	1409	1	0.070871722182849	988	702	41.5384615384615	547	101	15.5864197530864
10	44835619	44835619	A	C	SNP	CXCL12	ENST00000395795	human	ensembl	70_37	-1	known	intronic	c.266+38466	e3+38466	0.002	-	-	-	no_errors	CXCL12	HGNC	ENSG00000107562	tier3	452	0	0	521	3	0.572519083969466	243	3	1.21951219512195
10	46980236	46980236	A	C	SNP	SYT15	ENST00000374323	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-9424	NULL	0.880	-	-	-	no_errors	SYT15	HGNC	ENSG00000204176	tier3	1116	0	0	1472	1	0.067842605156038	600	2	0.332225913621262
10	47093466	47093466	A	C	SNP	ENSG00000250469	ENST00000503031	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	XXyac-YR14BB7.1	Clone_based_vega_gene	ENSG00000250469	tier3	1388	0	0	1868	3	0.16025641025641	808	0	0
10	47096413	47096413	A	G	SNP	ENSG00000250469	ENST00000503031	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	XXyac-YR14BB7.1	Clone_based_vega_gene	ENSG00000250469	tier4	1488	0	0	2255	7	0.309187279151943	804	1	0.123915737298637
10	47361467	47361467	C	A	SNP	FAM35B2	ENST00000323387	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18260	NULL	0.283	-	-	-	no_coding_region:pseudogene	FAM35B2	HGNC	ENSG00000189014	tier4	1564	0	0	2076	2	0.0962463907603465	735	0	0
10	50272285	50272285	G	A	SNP	VSTM4	ENST00000332853	human	ensembl	70_37	-1	known	intronic	c.668+463	e5+463	0.000	-	-	-	no_errors	VSTM4	HGNC	ENSG00000165633	tier4	1179	0	0	1520	2	0.131233595800525	498	43	7.94824399260629
10	50932136	50932136	G	A	SNP	ENSG00000226389	ENST00000420752	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-47751	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-507K13.4	Clone_based_vega_gene	ENSG00000226389	tier3	486	0	0	349	266	43.2520325203252	206	33	13.8075313807531
10	51058644	51058644	G	T	SNP	PARG	ENST00000402038	human	ensembl	70_37	-1	known	intronic	c.898+6708	e9+6708	0.000	-	-	-	no_start_codon	PARG	HGNC	ENSG00000227345	tier3	890	0	0	1223	3	0.244498777506112	430	0	0
10	52396445	52396445	T	G	SNP	SGMS1	ENST00000361781	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-292571	NULL	0.001	-	-	-	no_errors	SGMS1	HGNC	ENSG00000198964	tier3	1065	0	0	1353	3	0.221238938053097	455	0	0
10	52796029	52796029	A	C	SNP	PRKG1	ENST00000401604	human	ensembl	70_37	+1	known	intronic	c.266+44625	e1+44625	0.000	-	-	-	no_errors	PRKG1	HGNC	ENSG00000185532	tier4	1594	0	0	1128	868	43.4869739478958	656	111	14.4719687092568
10	52801677	52801677	G	T	SNP	PRKG1	ENST00000401604	human	ensembl	70_37	+1	known	intronic	c.266+50273	e1+50273	0.188	-	-	-	no_errors	PRKG1	HGNC	ENSG00000185532	tier3	937	1	0.106496272630458	658	495	42.9314830875976	378	87	18.7096774193548
10	53727361	53727361	G	A	SNP	PRKG1	ENST00000373980	human	ensembl	70_37	+1	known	intronic	c.762+60031	e5+60031	0.000	-	-	-	no_errors	PRKG1	HGNC	ENSG00000185532	tier3	452	3	0.657894736842105	338	217	39.0287769784173	269	55	16.8711656441718
10	53817209	53817209	G	T	SNP	PRKG1	ENST00000373980	human	ensembl	70_37	+1	known	intronic	c.840+2888	e6+2888	0.000	-	-	-	no_errors	PRKG1	HGNC	ENSG00000185532	tier3	998	2	0.2	655	498	43.1542461005199	407	85	17.2064777327935
10	53844586	53844586	C	A	SNP	PRKG1	ENST00000373980	human	ensembl	70_37	+1	known	intronic	c.935+22195	e7+22195	0.001	-	-	-	no_errors	PRKG1	HGNC	ENSG00000185532	tier4	805	0	0	1044	2	0.191204588910134	395	2	0.50125313283208
10	54113389	54113389	A	G	SNP	ENSG00000236671	ENST00000420193	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39501	NULL	0.000	-	-	-	no_errors	RP11-573I11.2	Clone_based_vega_gene	ENSG00000236671	tier3	1232	0	0	1683	2	0.118694362017804	577	0	0
10	54221312	54221312	A	C	SNP	ENSG00000231131	ENST00000422763	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.955	-	-	-	no_errors	RP11-346D6.6	Clone_based_vega_gene	ENSG00000231131	tier3	914	0	0	1180	2	0.169204737732657	431	0	0
10	54708179	54708179	T	G	SNP	ENSG00000227121	ENST00000444155	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*25069	NULL	0.000	-	-	-	no_errors	RP11-319F12.2	Clone_based_vega_gene	ENSG00000227121	tier4	830	0	0	1043	2	0.191204588910134	413	0	0
10	54877179	54877179	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	384	0	0	471	2	0.422832980972516	163	4	2.39520958083832
10	55497321	55497321	T	A	SNP	ENSG00000233805	ENST00000426885	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-28839	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-449J3.3	Clone_based_vega_gene	ENSG00000233805	tier4	1780	1	0.0561482313307131	2391	47	1.92780968006563	651	149	18.625
10	55606593	55606593	G	C	SNP	PCDH15	ENST00000320301	human	ensembl	70_37	-1	known	intronic	c.3807-6337	e28-6337	0.000	-	-	-	no_errors	PCDH15	HGNC	ENSG00000150275	tier4	892	0	0	1260	2	0.158102766798419	452	0	0
10	57990659	57990659	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	715	0	0	1036	2	0.192492781520693	342	0	0
10	58403008	58403008	T	C	SNP	ENSG00000238707	ENST00000458762	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-47217	NULL	0.022	-	-	-	no_errors	SNORD2	RFAM	ENSG00000238707	tier4	705	0	0	451	385	46.0526315789474	282	85	23.1607629427793
10	58878299	58878299	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	588	0	0	778	1	0.127877237851662	268	3	1.1070110701107
10	59083790	59083790	A	G	SNP	MIR3924	ENST00000583084	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-19471	NULL	0.000	-	-	-	no_errors	MIR3924	HGNC	ENSG00000264747	tier3	1253	1	0.0797448165869219	770	674	46.6759002770083	403	112	21.6634429400387
10	59643343	59643343	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1318	2	0.151515151515152	887	710	44.4583594239199	549	120	17.9372197309417
10	60813025	60813025	T	G	SNP	ENSG00000226888	ENST00000413972	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*35436	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-561G1.3	Clone_based_vega_gene	ENSG00000226888	tier3	1303	0	0	1771	3	0.169109357384442	583	0	0
10	61110523	61110523	A	C	SNP	FAM13C	ENST00000373868	human	ensembl	70_37	-1	known	intronic	c.324+1507	e3+1507	0.004	-	-	-	no_errors	FAM13C	HGNC	ENSG00000148541	tier3	757	0	0	1095	2	0.182315405651778	346	3	0.857142857142857
10	61416823	61416823	A	G	SNP	SLC16A9	ENST00000395347	human	ensembl	70_37	-1	known	intronic	c.437-2476	e4-2476	0.000	-	-	-	no_errors	SLC16A9	HGNC	ENSG00000165449	tier4	1538	1	0.0649772579597141	1149	985	46.135831381733	496	129	20.64
10	61529344	61529344	C	T	SNP	SLC16A9	ENST00000395347	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-85295	NULL	0.088	-	-	-	no_errors	SLC16A9	HGNC	ENSG00000165449	tier4	252	0	0	374	4	1.05820105820106	225	6	2.5974025974026
10	63893206	63893206	G	C	SNP	ARID5B	ENST00000279873	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40417	NULL	0.555	-	-	-	no_errors	ARID5B	HGNC	ENSG00000150347	tier4	1228	0	0	925	665	41.8238993710692	535	109	16.8730650154799
10	64835104	64835104	T	G	SNP	ENSG00000199446	ENST00000362576	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-34795	NULL	0.256	-	-	-	no_errors	U6	RFAM	ENSG00000199446	tier3	962	0	0	1468	5	0.339443312966735	416	2	0.478468899521531
10	65910650	65910650	T	C	SNP	ENSG00000235489	ENST00000412976	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*18070	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-386C23.1	Clone_based_vega_gene	ENSG00000235489	tier4	1387	0	0	927	754	44.854253420583	560	122	17.8885630498534
10	66226768	66226768	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	954	0	0	1140	2	0.175131348511384	478	0	0
10	66551540	66551540	G	T	SNP	ANXA2P3	ENST00000404883	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33789	NULL	0.000	-	-	-	no_coding_region:pseudogene	ANXA2P3	HGNC	ENSG00000216740	tier3	1069	1	0.0932835820895522	1457	8	0.545702592087312	465	8	1.69133192389006
10	66906357	66906357	C	T	SNP	MYL6P3	ENST00000436904	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*22839	NULL	0.001	-	-	-	no_coding_region:pseudogene	MYL6P3	HGNC	ENSG00000227173	tier4	871	0	0	1066	2	0.187090739008419	438	0	0
10	67083277	67083277	A	C	SNP	ENSG00000235356	ENST00000428346	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*8549	NULL	0.037	-	-	-	no_errors	RP11-428G2.1	Clone_based_vega_gene	ENSG00000235356	tier4	810	0	0	1081	2	0.184672206832872	345	1	0.289017341040462
10	67810179	67810179	T	C	SNP	CTNNA3	ENST00000373744	human	ensembl	70_37	-1	known	intronic	c.2159+18887	e14+18887	0.001	-	-	-	no_errors	CTNNA3	HGNC	ENSG00000183230	tier3	1066	0	0	754	604	44.4771723122239	439	93	17.4157303370787
10	67990360	67990360	C	T	SNP	CTNNA3	ENST00000373744	human	ensembl	70_37	-1	known	intronic	c.1884+49868	e12+49868	0.004	-	-	-	no_errors	CTNNA3	HGNC	ENSG00000183230	tier4	804	1	0.124069478908189	578	498	46.2395543175487	318	82	20.5
10	68221463	68221463	C	A	SNP	CTNNA3	ENST00000373744	human	ensembl	70_37	-1	known	intronic	c.1531+58912	e10+58912	0.022	-	-	-	no_errors	CTNNA3	HGNC	ENSG00000183230	tier3	609	3	0.490196078431373	798	25	3.03766707168894	261	2	0.760456273764259
10	72931911	72931911	C	T	SNP	UNC5B	ENST00000335350	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40832	NULL	0.000	-	-	-	no_errors	UNC5B	HGNC	ENSG00000107731	tier4	970	0	0	870	395	31.1760063141279	536	0	0
10	72942437	72942437	T	G	SNP	UNC5B	ENST00000335350	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30306	NULL	0.362	-	-	-	no_errors	UNC5B	HGNC	ENSG00000107731	tier4	879	0	0	1140	2	0.175131348511384	413	0	0
10	73355810	73355810	T	A	SNP	CDH23	ENST00000224721	human	ensembl	70_37	+1	known	intronic	c.847+18061	e8+18061	0.006	-	-	-	no_errors	CDH23	HGNC	ENSG00000107736	tier3	552	0	0	386	308	44.3804034582133	210	75	26.3157894736842
10	73721469	73721469	C	A	SNP	CHST3	ENST00000373115	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44132	NULL	0.001	-	-	-	no_errors	CHST3	HGNC	ENSG00000122863	tier4	233	0	0	370	1	0.269541778975741	194	3	1.52284263959391
10	75052156	75052156	C	A	SNP	TTC18	ENST00000310715	human	ensembl	70_37	-1	known	intronic	c.1981-384	e17-384	0.000	-	-	-	no_errors	TTC18	HGNC	ENSG00000156042	tier4	810	0	0	1237	1	0.0807754442649435	492	8	1.6
10	76214141	76214141	A	G	SNP	ADK	ENST00000286621	human	ensembl	70_37	+1	known	intronic	c.555+55804	e6+55804	0.007	-	-	-	no_errors	ADK	HGNC	ENSG00000156110	tier4	1640	0	0	1253	1018	44.806338028169	490	131	21.0950080515298
10	76237703	76237703	C	G	SNP	ADK	ENST00000286621	human	ensembl	70_37	+1	known	intronic	c.556-47311	e7-47311	0.003	-	-	-	no_errors	ADK	HGNC	ENSG00000156110	tier4	1178	0	0	845	709	45.5948553054662	456	82	15.1291512915129
10	76722888	76722888	T	C	SNP	KAT6B	ENST00000287239	human	ensembl	70_37	+1	known	intronic	c.730+3052	e2+3052	0.000	-	-	-	no_errors	KAT6B	HGNC	ENSG00000156650	tier4	901	0	0	1407	5	0.354107648725212	397	1	0.251256281407035
10	77158028	77158028	T	G	SNP	ZNF503	ENST00000372524	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*479	NULL	1.000	-	-	-	no_errors	ZNF503	HGNC	ENSG00000165655	tier2	1224	0	0	1774	2	0.112612612612613	537	1	0.185873605947955
10	77666499	77666499	T	G	SNP	C10orf11	ENST00000372499	human	ensembl	70_37	+1	known	intronic	c.47+123719	e1+123719	1.000	-	-	-	no_errors	C10orf11	HGNC	ENSG00000148655	tier2	1001	0	0	1303	3	0.229709035222052	412	0	0
10	77931512	77931512	C	A	SNP	C10orf11	ENST00000372499	human	ensembl	70_37	+1	known	intronic	c.432+112971	e4+112971	0.000	-	-	-	no_errors	C10orf11	HGNC	ENSG00000148655	tier4	608	0	0	746	1	0.133868808567604	344	3	0.84985835694051
10	78513078	78513078	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	871	0	0	1148	1	0.0870322019147084	445	2	0.44543429844098
10	78868949	78868949	T	G	SNP	KCNMA1	ENST00000406533	human	ensembl	70_37	-1	known	intronic	c.1132-619	e9-619	0.000	-	-	-	no_errors	KCNMA1	HGNC	ENSG00000156113	tier3	1077	0	0	1372	2	0.145560407569141	440	3	0.677200902934537
10	79406257	79406257	G	A	SNP	KCNMA1	ENST00000406533	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-8857	NULL	0.001	-	-	-	no_errors	KCNMA1	HGNC	ENSG00000156113	tier4	609	1	0.163934426229508	404	333	45.1831750339213	330	34	9.34065934065934
10	79450969	79450969	A	G	SNP	ENSG00000213514	ENST00000394628	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39555	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-428P16.2	Clone_based_vega_gene	ENSG00000213514	tier3	940	0	0	651	492	43.006993006993	375	118	23.9350912778905
10	79557168	79557168	T	C	SNP	DLG5	ENST00000372391	human	ensembl	70_37	-1	known	intronic	c.5165-816	e28-816	0.000	-	-	-	no_errors	DLG5	HGNC	ENSG00000151208	tier3	796	0	0	1081	1	0.0924214417744917	363	4	1.08991825613079
10	80261843	80261843	T	G	SNP	LOC100132987	ENST00000546103	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-90J7.3	Clone_based_vega_gene	ENSG00000230417	tier3	834	0	0	1011	2	0.197433366238894	401	3	0.742574257425743
10	80817143	80817143	T	G	SNP	LOC283050	ENST00000440151	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-202P11.1	Clone_based_vega_gene	ENSG00000224596	tier3	371	0	0	519	2	0.383141762452107	188	0	0
10	82085735	82085735	T	A	SNP	MAT1A	ENST00000372206	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-36556	NULL	0.001	-	-	-	no_errors	MAT1A	HGNC	ENSG00000151224	tier4	1681	0	0	2594	2	0.0770119368502118	723	0	0
10	82226408	82226408	T	G	SNP	TSPAN14	ENST00000372156	human	ensembl	70_37	+1	known	intronic	c.1+114	e0+114	0.001	-	-	-	no_errors	TSPAN14	HGNC	ENSG00000108219	tier3	608	0	0	846	2	0.235849056603774	396	0	0
10	82533526	82533526	C	T	SNP	ENSG00000233703	ENST00000456245	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22539	NULL	0.053	-	-	-	no_coding_region:pseudogene	RP11-20E23.1	Clone_based_vega_gene	ENSG00000233703	tier4	1360	0	0	997	993	49.8994974874372	456	128	21.8430034129693
10	83823261	83823261	A	G	SNP	NRG3	ENST00000404547	human	ensembl	70_37	+1	known	intronic	c.823+187342	e1+187342	0.008	-	-	-	no_errors	NRG3	HGNC	ENSG00000185737	tier3	501	0	0	702	2	0.284090909090909	253	1	0.393700787401575
10	84252067	84252067	G	T	SNP	NRG3	ENST00000404547	human	ensembl	70_37	+1	known	intronic	c.953+133443	e2+133443	0.205	-	-	-	no_errors	NRG3	HGNC	ENSG00000185737	tier4	1371	0	0	894	631	41.3770491803279	436	121	21.4920071047957
10	87010414	87010414	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	915	1	0.109170305676856	607	509	45.6093189964158	350	58	14.2156862745098
10	87213503	87213503	T	G	SNP	ENSG00000230962	ENST00000441457	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-113E21.1	Clone_based_vega_gene	ENSG00000230962	tier3	664	0	0	820	2	0.24330900243309	337	1	0.29585798816568
10	87283263	87283263	G	C	SNP	ENSG00000223064	ENST00000411132	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-13873	NULL	0.000	-	-	-	no_errors	U6	RFAM	ENSG00000223064	tier4	1107	0	0	1291	2	0.154440154440154	474	0	0
10	88523386	88523386	G	A	SNP	BMPR1A	ENST00000224764	human	ensembl	70_37	+1	known	intronic	c.1+6710	e0+6710	0.000	-	-	-	no_errors	BMPR1A	HGNC	ENSG00000107779	tier3	815	0	0	656	530	44.6503791069924	377	83	17.965367965368
10	89880782	89880782	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	682	0	0	852	2	0.234192037470726	333	1	0.29940119760479
10	90060979	90060979	A	C	SNP	RNLS	ENST00000331772	human	ensembl	70_37	-1	known	intronic	c.876+13244	e6+13244	0.046	-	-	-	no_errors	RNLS	HGNC	ENSG00000184719	tier3	1184	0	0	1618	1	0.0617283950617284	426	5	1.16009280742459
10	90409906	90409906	T	A	SNP	LIPF	ENST00000394375	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15392	NULL	0.515	-	-	-	no_errors	LIPF	HGNC	ENSG00000182333	tier4	1178	0	0	1699	3	0.176159718144451	581	0	0
10	91896346	91896346	A	G	SNP	ENSG00000222451	ENST00000410519	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*27062	NULL	0.073	-	-	-	no_errors	7SK	RFAM	ENSG00000222451	tier4	700	0	0	878	2	0.227272727272727	362	3	0.821917808219178
10	94895845	94895845	T	G	SNP	ENSG00000232805	ENST00000433227	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28705	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-280G19.1	Clone_based_vega_gene	ENSG00000232805	tier3	1249	0	0	1759	2	0.113507377979569	588	0	0
10	95596857	95596857	A	G	SNP	LGI1	ENST00000371418	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*39297	NULL	0.000	-	-	-	no_errors	LGI1	HGNC	ENSG00000108231	tier3	1354	0	0	1035	893	46.3174273858921	517	101	16.3430420711974
10	95800573	95800573	A	T	SNP	PLCE1	ENST00000371380	human	ensembl	70_37	+1	known	intronic	c.1206+8564	e1+8564	0.010	-	-	-	no_errors	PLCE1	HGNC	ENSG00000138193	tier4	971	0	0	1150	3	0.2601908065915	410	0	0
10	96032883	96032883	G	A	SNP	PLCE1	ENST00000371380	human	ensembl	70_37	+1	known	intronic	c.4507-436	e18-436	0.000	-	-	-	no_errors	PLCE1	HGNC	ENSG00000138193	tier3	719	1	0.138888888888889	608	293	32.519422863485	396	2	0.50251256281407
10	99175193	99175193	T	G	SNP	ENSG00000231970	ENST00000422848	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	RP11-452K12.7	Clone_based_vega_gene	ENSG00000231970	tier3	553	0	0	853	3	0.350467289719626	337	0	0
10	100385383	100385383	C	T	SNP	HPSE2	ENST00000370552	human	ensembl	70_37	-1	known	intronic	c.1099-4918	e8-4918	0.005	-	-	-	no_errors	HPSE2	HGNC	ENSG00000172987	tier4	1477	0	0	1054	785	42.6630434782609	573	131	18.6079545454545
10	101529989	101529989	A	T	SNP	ABCC2	ENST00000370449	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12613	NULL	0.021	-	-	-	no_errors	ABCC2	HGNC	ENSG00000023839	tier4	150	0	0	179	2	1.10497237569061	37	0	0
10	101618220	101618220	T	G	SNP	DNMBP	ENST00000342239	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*18688	NULL	0.000	-	-	-	no_errors	DNMBP	HGNC	ENSG00000107554	tier3	708	0	0	1135	3	0.263620386643234	386	0	0
10	101679275	101679275	T	G	SNP	DNMBP	ENST00000342239	human	ensembl	70_37	-1	known	intronic	c.2261-10372	e4-10372	0.008	-	-	-	no_errors	DNMBP	HGNC	ENSG00000107554	tier4	723	0	0	1101	4	0.361663652802893	397	0	0
10	104502564	104502564	T	A	SNP	WBP1L	ENST00000448841	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1247	NULL	0.322	-	-	-	no_errors	WBP1L	HGNC	ENSG00000166272	tier2	675	0	0	1146	23	1.96581196581197	432	0	0
10	104562983	104562983	A	G	SNP	WBP1L	ENST00000448841	human	ensembl	70_37	+1	known	intronic	c.193+5131	e2+5131	0.134	-	-	-	no_errors	WBP1L	HGNC	ENSG00000166272	tier3	302	0	0	507	2	0.392927308447937	165	0	0
10	105568782	105568782	A	C	SNP	SH3PXD2A	ENST00000369774	human	ensembl	70_37	-1	known	intronic	c.73-7662	e2-7662	0.001	-	-	-	no_errors	SH3PXD2A	HGNC	ENSG00000107957	tier3	889	0	0	1415	2	0.141143260409315	427	2	0.466200466200466
10	105612458	105612458	A	C	SNP	SH3PXD2A	ENST00000369774	human	ensembl	70_37	-1	known	intronic	c.72+2495	e1+2495	0.000	-	-	-	no_errors	SH3PXD2A	HGNC	ENSG00000107957	tier3	396	0	0	578	2	0.343642611683849	200	0	0
10	106342368	106342368	T	C	SNP	ENSG00000237761	ENST00000450054	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33492	NULL	0.004	-	-	-	no_errors	RP11-127O4.2	Clone_based_vega_gene	ENSG00000237761	tier3	771	0	0	1056	2	0.188679245283019	420	0	0
10	106423579	106423579	A	C	SNP	SORCS3	ENST00000369701	human	ensembl	70_37	+1	known	intronic	c.627+21867	e1+21867	0.000	-	-	-	no_errors	SORCS3	HGNC	ENSG00000156395	tier3	607	0	0	784	3	0.381194409148666	267	1	0.373134328358209
10	107269479	107269479	G	A	SNP	ENSG00000236043	ENST00000429680	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-7366	NULL	0.005	-	-	-	no_errors	RP11-78C6.1	Clone_based_vega_gene	ENSG00000236043	tier4	799	0	0	574	473	45.1766953199618	331	59	15.1282051282051
10	107617120	107617120	G	A	SNP	ENSG00000229466	ENST00000447757	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38165	NULL	0.062	-	-	-	no_errors	RP11-56I23.1	Clone_based_vega_gene	ENSG00000229466	tier3	1243	0	0	1480	203	12.0474777448071	527	0	0
10	109147952	109147952	A	G	SNP	ENSG00000230151	ENST00000429110	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-432B10.1	Clone_based_vega_gene	ENSG00000230151	tier4	996	0	0	1198	22	1.80327868852459	343	73	17.4641148325359
10	110500380	110500380	T	G	SNP	ENSG00000223381	ENST00000421481	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.121	-	-	-	no_errors	RP11-655H13.2	Clone_based_vega_gene	ENSG00000223381	tier4	355	0	0	496	2	0.400801603206413	215	0	0
10	112071097	112071097	A	G	SNP	SMNDC1	ENST00000369592	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-7752	NULL	0.000	-	-	-	no_errors	SMNDC1	HGNC	ENSG00000119953	tier3	1473	0	0	2227	2	0.0896860986547085	602	0	0
10	112405889	112405889	G	T	SNP	RBM20	ENST00000369519	human	ensembl	70_37	+1	known	intronic	c.191+1486	e1+1486	0.006	-	-	-	no_errors	RBM20	HGNC	ENSG00000203867	tier3	1048	0	0	1520	5	0.327868852459016	451	4	0.879120879120879
10	113550102	113550102	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	914	0	0	1065	1	0.0938086303939962	407	4	0.97323600973236
10	114909178	114909178	A	G	SNP	TCF7L2	ENST00000355995	human	ensembl	70_37	+1	known	intronic	c.876-1579	e9-1579	0.000	-	-	-	no_errors	TCF7L2	HGNC	ENSG00000148737	tier3	903	0	0	1218	3	0.245499181669394	403	1	0.246305418719212
10	114932577	114932577	G	T	SNP	TCF7L2	ENST00000355995	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*6846	NULL	0.003	-	-	-	no_errors	TCF7L2	HGNC	ENSG00000148737	tier4	876	0	0	1164	4	0.342465753424658	458	2	0.434782608695652
10	115265947	115265947	G	T	SNP	HABP2	ENST00000351270	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46934	NULL	0.020	-	-	-	no_errors	HABP2	HGNC	ENSG00000148702	tier4	692	0	0	794	2	0.251256281407035	300	3	0.99009900990099
10	115393280	115393280	T	G	SNP	NRAP	ENST00000369358	human	ensembl	70_37	-1	known	intronic	c.1528-333	e16-333	0.001	-	-	-	no_errors	NRAP	HGNC	ENSG00000197893	tier3	747	0	0	959	2	0.207684319833853	293	1	0.335570469798658
10	116750583	116750583	G	C	SNP	ENSG00000236799	ENST00000433085	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3833	NULL	0.000	-	-	-	no_errors	RP11-383C6.2	Clone_based_vega_gene	ENSG00000236799	tier3	1134	0	0	1591	3	0.18796992481203	409	5	1.20772946859903
10	117275327	117275327	G	T	SNP	ATRNL1	ENST00000355044	human	ensembl	70_37	+1	known	intronic	c.3655-3446	e25-3446	0.000	-	-	-	no_errors	ATRNL1	HGNC	ENSG00000107518	tier4	1118	0	0	1393	3	0.214899713467049	559	1	0.177619893428064
10	117310130	117310130	T	G	SNP	ATRNL1	ENST00000355044	human	ensembl	70_37	+1	known	intronic	c.3795+1084	e26+1084	0.000	-	-	-	no_errors	ATRNL1	HGNC	ENSG00000107518	tier3	1349	0	0	1714	1	0.05824111822947	539	2	0.369685767097967
10	117545476	117545476	G	A	SNP	ATRNL1	ENST00000355044	human	ensembl	70_37	+1	known	intronic	c.3903+58611	e27+58611	0.000	-	-	-	no_errors	ATRNL1	HGNC	ENSG00000107518	tier4	475	0	0	372	292	43.8438438438438	210	46	17.96875
10	117736105	117736105	T	G	SNP	ATRNL1	ENST00000355044	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*31815	NULL	0.000	-	-	-	no_errors	ATRNL1	HGNC	ENSG00000107518	tier3	263	0	0	317	1	0.314465408805031	117	4	3.27868852459016
10	118042566	118042566	G	A	SNP	GFRA1	ENST00000439649	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11025	NULL	0.000	-	-	-	no_errors	GFRA1	HGNC	ENSG00000151892	tier3	621	0	0	413	364	46.7866323907455	246	64	20.6451612903226
10	118080113	118080113	G	T	SNP	GFRA1	ENST00000439649	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-48572	NULL	0.027	-	-	-	no_errors	GFRA1	HGNC	ENSG00000151892	tier4	970	3	0.308324768756423	1232	5	0.404203718674212	468	22	4.48979591836735
10	118978052	118978052	T	C	SNP	SLC18A2	ENST00000298472	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23153	NULL	0.063	-	-	-	no_errors	SLC18A2	HGNC	ENSG00000165646	tier3	427	0	0	528	1	0.189035916824197	232	2	0.854700854700855
10	119208195	119208195	T	C	SNP	ENSG00000258114	ENST00000549104	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.637	-	-	-	no_errors	CTA-109P11.4	Clone_based_vega_gene	ENSG00000258114	tier3	1454	0	0	1955	3	0.153217568947906	667	0	0
10	119722725	119722725	G	A	SNP	RAB11FIP2	ENST00000369199	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*45784	NULL	0.000	-	-	-	no_errors	RAB11FIP2	HGNC	ENSG00000107560	tier3	1820	0	0	2102	220	9.46643717728055	786	2	0.251889168765743
10	120731159	120731159	C	T	SNP	ENSG00000215925	ENST00000401106	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-34143	NULL	0.000	-	-	-	no_errors	AL157788.1	Clone_based_ensembl_gene	ENSG00000215925	tier3	576	1	0.173310225303293	435	456	51.1784511784512	258	60	18.8679245283019
10	121435292	121435292	C	T	SNP	BAG3	ENST00000369085	human	ensembl	70_37	+1	known	intronic	c.910-684	e4-684	0.001	-	-	-	no_errors	BAG3	HGNC	ENSG00000151929	tier4	352	0	0	561	2	0.355239786856128	108	0	0
10	121920981	121920981	T	G	SNP	ENSG00000228270	ENST00000411599	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-19761	NULL	0.530	-	-	-	no_errors	RP11-254K3.1	Clone_based_vega_gene	ENSG00000228270	tier4	715	0	0	904	2	0.22075055187638	393	0	0
10	125630040	125630040	C	T	SNP	CPXM2	ENST00000241305	human	ensembl	70_37	-1	known	intronic	c.404-7801	e3-7801	0.000	-	-	-	no_errors	CPXM2	HGNC	ENSG00000121898	tier2	1129	0	0	666	585	46.7625899280576	485	91	15.7986111111111
10	127350559	127350559	C	T	SNP	TEX36	ENST00000368821	human	ensembl	70_37	-1	known	intronic	c.52-13	e2-13	0.370	-	-	-	no_errors	TEX36	HGNC	ENSG00000175018	tier3	1141	0	0	1223	171	12.258064516129	579	0	0
10	127487519	127487519	A	C	SNP	UROS	ENST00000368786	human	ensembl	70_37	-1	known	intronic	c.395-805	e6-805	0.000	-	-	-	no_errors	UROS	HGNC	ENSG00000188690	tier3	891	0	0	1333	4	0.299177262528048	459	4	0.863930885529158
10	127954176	127954176	C	A	SNP	ADAM12	ENST00000368679	human	ensembl	70_37	-1	known	intronic	c.260+13308	e3+13308	0.001	-	-	-	no_errors	ADAM12	HGNC	ENSG00000148848	tier4	853	0	0	962	1	0.103842159916926	442	5	1.11856823266219
10	128485924	128485924	T	C	SNP	ENSG00000199321	ENST00000362451	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-17581	NULL	0.001	-	-	-	no_errors	SNORD60	RFAM	ENSG00000199321	tier3	807	0	0	1096	2	0.182149362477231	440	2	0.45045045045045
10	129342725	129342725	C	T	SNP	NPS	ENST00000398023	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-4908	NULL	0.000	-	-	-	no_errors	NPS	HGNC	ENSG00000214285	tier3	799	1	0.125	597	484	44.7733580018501	339	93	21.5277777777778
10	129568425	129568425	A	C	SNP	LOC387720	ENST00000341742	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33456	NULL	0.009	-	-	-	no_coding_region:pseudogene	AL391005.1	Clone_based_ensembl_gene	ENSG00000188722	tier4	366	0	0	475	2	0.419287211740042	195	0	0
10	129596164	129596164	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	472	0	0	673	2	0.29585798816568	270	5	1.81818181818182
10	131790972	131790972	G	T	SNP	EBF3	ENST00000355311	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28940	NULL	0.064	-	-	-	no_errors	EBF3	HGNC	ENSG00000108001	tier4	968	0	0	1177	4	0.338696020321761	506	6	1.171875
10	132041608	132041608	G	A	SNP	ENSG00000237364	ENST00000449936	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40216	NULL	0.000	-	-	-	no_errors	RP11-500G10.6	Clone_based_vega_gene	ENSG00000237364	tier4	1039	0	0	650	522	44.5392491467577	355	94	20.8425720620843
10	133860670	133860670	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1079	0	0	1530	3	0.195567144719687	480	0	0
10	134178163	134178163	T	C	SNP	LRRC27	ENST00000368613	human	ensembl	70_37	+1	known	intronic	c.1290-765	e9-765	0.028	-	-	-	no_errors	LRRC27	HGNC	ENSG00000148814	tier3	312	0	0	426	3	0.699300699300699	204	8	3.77358490566038
10	134270927	134270927	T	G	SNP	ENSG00000234311	ENST00000450206	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15939	NULL	0.003	-	-	-	no_errors	RP11-432J24.3	Clone_based_vega_gene	ENSG00000234311	tier3	681	0	0	1078	1	0.092678405931418	337	3	0.882352941176471
10	134449692	134449692	T	G	SNP	INPP5A	ENST00000368594	human	ensembl	70_37	+1	known	intronic	c.118-9680	e3-9680	0.172	-	-	-	no_errors	INPP5A	HGNC	ENSG00000068383	tier4	1374	0	0	1821	1	0.0548546352166758	500	5	0.99009900990099
10	134486408	134486408	T	G	SNP	INPP5A	ENST00000368594	human	ensembl	70_37	+1	known	intronic	c.307-17488	e5-17488	0.471	-	-	-	no_errors	INPP5A	HGNC	ENSG00000068383	tier4	896	0	0	1313	2	0.152091254752852	518	1	0.192678227360308
10	134835917	134835917	G	A	SNP	LOC399829	ENST00000461291	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*46059	NULL	0.000	-	-	-	no_errors	RP13-137A17.6	Clone_based_vega_gene	ENSG00000240707	tier2	197	0	0	143	57	28.5	123	2	1.6
10	135267887	135267887	C	T	SNP	SPRN	ENST00000541506	human	ensembl	70_37	-1	known	intronic	c.1-30686	e1-30686	0.000	-	-	-	no_errors	SPRN	HGNC	ENSG00000203772	tier3	525	1	0.189753320683112	689	111	13.875	296	0	0
10	135325063	135325063	A	G	SNP	SPRN	ENST00000541506	human	ensembl	70_37	-1	known	intronic	c.1+57713	e0+57713	0.001	-	-	-	no_errors	SPRN	HGNC	ENSG00000203772	tier4	1774	0	0	2787	2	0.0717102904266762	775	2	0.257400257400257
11	1016893	1016893	A	G	SNP	MUC6	ENST00000421673	human	ensembl	70_37	-1	known	missense	c.5908	p.S1970P	0.197	NULL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	-	no_errors	MUC6	HGNC	ENSG00000184956	tier1	2361	0	0	3561	2	0.0561167227833895	1520	0	0
11	1113148	1113148	A	C	SNP	MUC5AC	ENST00000534821	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-38479	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	MUC5AC	HGNC	ENSG00000215182	tier3	228	0	0	293	3	1.01351351351351	135	2	1.45985401459854
11	1812586	1812586	A	T	SNP	CTSD	ENST00000236671	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27497	NULL	0.298	-	-	-	no_errors	CTSD	HGNC	ENSG00000117984	tier4	870	0	0	1338	2	0.147819660014782	422	0	0
11	2055152	2055152	T	G	SNP	MIR675	ENST00000390168	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37078	NULL	0.008	-	-	-	no_errors	MIR675	HGNC	ENSG00000211502	tier3	430	0	0	619	3	0.482315112540193	176	1	0.564971751412429
11	2099096	2099096	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	596	0	0	722	1	0.138312586445367	320	4	1.23456790123457
11	2232129	2232129	C	T	SNP	TH	ENST00000381178	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39113	NULL	0.000	-	-	-	no_errors	TH	HGNC	ENSG00000180176	tier3	879	1	0.113507377979569	657	560	46.0147904683648	398	95	19.2307692307692
11	2850745	2850745	A	G	SNP	KCNQ1	ENST00000155840	human	ensembl	70_37	+1	known	intronic	c.1795-18252	e16-18252	0.000	-	-	-	no_errors	KCNQ1	HGNC	ENSG00000053918	tier4	1371	1	0.0728862973760933	1162	798	40.6727828746177	497	102	17.0283806343907
11	3583832	3583832	A	G	SNP	ENSG00000255367	ENST00000527970	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.021	-	-	-	no_errors	RP13-726E6.2	Clone_based_vega_gene	ENSG00000255367	tier3	1656	0	0	2575	2	0.0775795190069822	797	0	0
11	3728603	3728603	T	G	SNP	NUP98	ENST00000324932	human	ensembl	70_37	-1	known	intronic	c.2743-746	e20-746	0.000	-	-	-	no_errors	NUP98	HGNC	ENSG00000110713	tier3	1294	0	0	2317	2	0.086244070720138	684	0	0
11	4492213	4492213	A	C	SNP	OR52K1	ENST00000307632	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17918	NULL	0.001	-	-	-	no_errors	OR52K1	HGNC	ENSG00000196778	tier4	789	0	0	1162	2	0.171673819742489	417	4	0.950118764845606
11	4816435	4816435	G	C	SNP	OR52Y1P	ENST00000452418	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-4816435	NULL	0.001	-	-	-	no_coding_region:pseudogene	OR52Y1P	HGNC	ENSG00000231070	tier3	800	0	0	1084	3	0.274725274725275	456	0	0
11	6520716	6520716	A	C	SNP	DNHD1	ENST00000254579	human	ensembl	70_37	+1	known	intronic	c.746+525	e1+525	0.000	-	-	-	no_errors	DNHD1	HGNC	ENSG00000179532	tier3	387	0	0	534	2	0.373134328358209	192	1	0.515463917525773
11	6808885	6808885	C	T	SNP	GVINP1	ENST00000526769	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41215	NULL	0.002	-	-	-	no_errors	GVINP1	HGNC	ENSG00000254838	tier4	633	0	0	891	3	0.33003300330033	358	2	0.543478260869565
11	8299665	8299665	A	C	SNP	LMO1	ENST00000335790	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14756	NULL	0.000	-	-	-	no_errors	LMO1	HGNC	ENSG00000166407	tier3	605	0	0	890	2	0.223964165733483	302	0	0
11	8365132	8365132	G	A	SNP	STK33	ENST00000315204	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*48925	NULL	0.000	-	-	-	no_errors	STK33	HGNC	ENSG00000130413	tier3	331	1	0.301204819277108	236	202	46.1187214611872	95	21	17.7966101694915
11	8964174	8964174	T	A	SNP	ASCL3	ENST00000325884	human	ensembl	70_37	-1	known	intronic	c.1+359	e0+359	0.070	-	-	-	no_errors	ASCL3	HGNC	ENSG00000176009	tier3	748	0	0	1103	2	0.180995475113122	476	0	0
11	11341263	11341263	T	C	SNP	GALNTL4	ENST00000227756	human	ensembl	70_37	-1	known	intronic	c.1512+7370	e9+7370	0.000	-	-	-	no_errors	GALNTL4	HGNC	ENSG00000110328	tier3	692	0	0	591	260	30.5522914218566	345	0	0
11	11697789	11697789	A	C	SNP	MIR4299	ENST00000577899	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-19520	NULL	0.000	-	-	-	no_errors	MIR4299	HGNC	ENSG00000266645	tier3	817	0	0	1137	3	0.263157894736842	393	1	0.253807106598985
11	12021573	12021573	C	A	SNP	DKK3	ENST00000326932	human	ensembl	70_37	-1	known	intronic	c.352-1247	e3-1247	0.000	-	-	-	no_errors	DKK3	HGNC	ENSG00000050165	tier3	935	0	0	1208	1	0.0827129859387924	399	2	0.498753117206983
11	12798185	12798185	G	T	SNP	TEAD1	ENST00000361905	human	ensembl	70_37	+1	known	intronic	c.157+12204	e1+12204	0.129	-	-	-	no_errors	TEAD1	HGNC	ENSG00000187079	tier3	476	0	0	650	1	0.153609831029186	250	4	1.5748031496063
11	12980338	12980338	G	T	SNP	ENSG00000203258	ENST00000454086	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-35866	NULL	0.932	-	-	-	no_errors	RP11-47J17.2	Clone_based_vega_gene	ENSG00000203258	tier4	1127	2	0.176991150442478	1337	5	0.3725782414307	483	12	2.42424242424242
11	14442202	14442202	C	G	SNP	ENSG00000255074	ENST00000534211	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20131	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-140L24.3	Clone_based_vega_gene	ENSG00000255074	tier4	474	0	0	709	2	0.281293952180028	210	0	0
11	14695440	14695440	T	C	SNP	ENSG00000255040	ENST00000525966	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-14695440	NULL	1.000	-	-	-	no_coding_region:pseudogene	RP11-677N16.1	Clone_based_vega_gene	ENSG00000255040	tier3	754	0	0	1076	3	0.278035217794254	357	3	0.833333333333333
11	15221397	15221397	C	T	SNP	INSC	ENST00000379554	human	ensembl	70_37	+1	known	intronic	c.835-973	e7-973	0.000	-	-	-	no_errors	INSC	HGNC	ENSG00000188487	tier3	543	0	0	334	364	52	216	78	26.530612244898
11	15585898	15585898	T	C	SNP	ENSG00000254946	ENST00000527770	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-531H8.1	Clone_based_vega_gene	ENSG00000254946	tier4	921	0	0	1273	2	0.156862745098039	404	0	0
11	15589125	15589125	G	A	SNP	ENSG00000254946	ENST00000527770	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.431	-	-	-	no_errors	RP11-531H8.1	Clone_based_vega_gene	ENSG00000254946	tier4	1644	0	0	1490	613	29.1349809885932	708	0	0
11	15726845	15726845	A	C	SNP	ENSG00000254695	ENST00000532242	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	RP11-396O20.1	Clone_based_vega_gene	ENSG00000254695	tier1	1657	0	0	2207	2	0.0904159132007233	571	0	0
11	16800238	16800238	A	C	SNP	PLEKHA7	ENST00000531066	human	ensembl	70_37	-1	putative	3_prime_untranslated_region	c.*307	NULL	0.456	-	-	-	no_errors	PLEKHA7	HGNC	ENSG00000166689	tier3	535	0	0	709	2	0.281293952180028	259	0	0
11	17206981	17206981	T	C	SNP	PIK3C2A	ENST00000540361	human	ensembl	70_37	-1	known	intronic	c.1+22414	e0+22414	0.075	-	-	-	no_errors	PIK3C2A	HGNC	ENSG00000011405	tier4	682	0	0	996	2	0.200400801603206	341	0	0
11	17501994	17501994	T	C	SNP	ABCC8	ENST00000302539	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3671	NULL	0.014	-	-	-	no_errors	ABCC8	HGNC	ENSG00000006071	tier3	653	0	0	893	2	0.223463687150838	360	0	0
11	17676463	17676463	T	G	SNP	ENSG00000254586	ENST00000524479	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40137	NULL	0.000	-	-	-	no_errors	RP11-358H18.3	Clone_based_vega_gene	ENSG00000254586	tier3	1170	0	0	1437	2	0.138985406532314	504	2	0.394477317554241
11	19052953	19052953	C	A	SNP	ENSG00000255424	ENST00000532323	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-968	NULL	0.003	-	-	-	no_coding_region:pseudogene	RP11-589F4.2	Clone_based_vega_gene	ENSG00000255424	tier4	831	0	0	1276	2	0.156494522691706	541	2	0.367647058823529
11	20351534	20351534	G	T	SNP	HTATIP2	ENST00000419348	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33824	NULL	0.001	-	-	-	no_errors	HTATIP2	HGNC	ENSG00000109854	tier3	748	0	0	992	3	0.301204819277108	434	0	0
11	20752718	20752718	G	T	SNP	NELL1	ENST00000357134	human	ensembl	70_37	+1	known	intronic	c.185-52508	e3-52508	0.982	-	-	-	no_errors	NELL1	HGNC	ENSG00000165973	tier3	601	0	0	447	343	43.3080808080808	268	71	20.9439528023599
11	21290383	21290383	A	G	SNP	NELL1	ENST00000357134	human	ensembl	70_37	+1	known	intronic	c.1549+39383	e14+39383	0.535	-	-	-	no_errors	NELL1	HGNC	ENSG00000165973	tier4	1150	0	0	1560	2	0.128040973111396	467	5	1.05932203389831
11	23626851	23626851	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1440	0	0	1868	30	1.58061116965227	552	129	18.887262079063
11	24759447	24759447	T	A	SNP	LUZP2	ENST00000336930	human	ensembl	70_37	+1	known	intronic	c.252-320	e4-320	0.985	-	-	-	no_errors	LUZP2	HGNC	ENSG00000187398	tier3	1291	0	0	991	779	44.0112994350283	500	112	18.3006535947712
11	26161646	26161646	G	T	SNP	ANO3	ENST00000537978	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-301821	NULL	0.000	-	-	-	no_errors	ANO3	HGNC	ENSG00000134343	tier3	1028	0	0	1372	2	0.145560407569141	474	3	0.628930817610063
11	27437674	27437674	G	A	SNP	LGR4	ENST00000379214	human	ensembl	70_37	-1	known	intronic	c.186-3267	e2-3267	0.001	-	-	-	no_errors	LGR4	HGNC	ENSG00000205213	tier3	985	0	0	1319	2	0.151171579743008	463	57	10.9615384615385
11	27662236	27662236	A	G	SNP	BDNF-AS	ENST00000499008	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.972	-	-	-	no_errors	BDNF-AS	HGNC	ENSG00000245573	tier3	1220	0	0	1628	4	0.244798041615667	563	2	0.353982300884956
11	28170932	28170932	T	G	SNP	METTL15	ENST00000303459	human	ensembl	70_37	+1	known	intronic	c.270+35781	e1+35781	0.000	-	-	-	no_errors	METTL15	HGNC	ENSG00000169519	tier3	1915	0	0	2724	7	0.256316367630904	627	2	0.316957210776545
11	28543730	28543730	T	C	SNP	ENSG00000255322	ENST00000532947	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.163	-	-	-	no_errors	RP11-22P4.1	Clone_based_vega_gene	ENSG00000255322	tier3	973	0	0	674	597	46.9708890637293	330	100	23.2558139534884
11	28935968	28935968	T	C	SNP	ENSG00000249867	ENST00000511073	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-115J23.1	Clone_based_vega_gene	ENSG00000249867	tier3	1047	0	0	1303	6	0.458365164247517	592	0	0
11	28935973	28935973	C	T	SNP	ENSG00000249867	ENST00000511073	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-115J23.1	Clone_based_vega_gene	ENSG00000249867	tier3	1065	0	0	1315	2	0.151860288534548	599	0	0
11	29457223	29457223	G	A	SNP	ENSG00000254530	ENST00000525097	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-460B17.3	Clone_based_vega_gene	ENSG00000254530	tier4	550	0	0	590	77	11.544227886057	253	0	0
11	30120275	30120275	C	G	SNP	ENSG00000254532	ENST00000527819	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14385	NULL	0.000	-	-	-	no_errors	RP11-624D11.2	Clone_based_vega_gene	ENSG00000254532	tier3	910	0	0	597	451	42.8707224334601	426	77	15.3081510934394
11	30210447	30210447	G	T	SNP	FSHB	ENST00000254122	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-43003	NULL	0.000	-	-	-	no_errors	FSHB	HGNC	ENSG00000131808	tier4	490	0	0	653	2	0.305343511450382	271	0	0
11	30267649	30267649	A	C	SNP	FSHB	ENST00000254122	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*12302	NULL	0.000	-	-	-	no_errors	FSHB	HGNC	ENSG00000131808	tier4	670	0	0	1040	2	0.191938579654511	361	0	0
11	30277130	30277130	A	C	SNP	FSHB	ENST00000254122	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*21783	NULL	0.202	-	-	-	no_errors	FSHB	HGNC	ENSG00000131808	tier3	581	0	0	842	1	0.118483412322275	258	2	0.769230769230769
11	32304722	32304722	T	G	SNP	ENSG00000227160	ENST00000525689	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.848	-	-	-	no_errors	RP1-65P5.1	Clone_based_vega_gene	ENSG00000227160	tier4	931	0	0	1400	2	0.14265335235378	403	4	0.97799511002445
11	33743689	33743689	A	C	SNP	CD59	ENST00000351554	human	ensembl	70_37	-1	known	intronic	c.67+236	e1+236	0.000	-	-	-	no_errors	CD59	HGNC	ENSG00000085063	tier3	835	0	0	1266	3	0.236220472440945	376	0	0
11	34203074	34203074	C	G	SNP	ABTB2	ENST00000435224	human	ensembl	70_37	-1	known	intronic	c.1245-8220	e4-8220	0.000	-	-	-	no_errors	ABTB2	HGNC	ENSG00000166016	tier3	522	0	0	450	354	44.0298507462687	247	48	16.271186440678
11	34956116	34956116	G	A	SNP	PDHX	ENST00000227868	human	ensembl	70_37	+1	known	intronic	c.241+3085	e2+3085	0.019	-	-	-	no_errors	PDHX	HGNC	ENSG00000110435	tier4	1080	0	0	1418	19	1.32036136205698	444	88	16.5413533834586
11	37498344	37498344	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1357	0	0	1951	2	0.102354145342886	715	1	0.139664804469274
11	37517465	37517465	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1854	0	0	1240	1049	45.827872433377	617	77	11.0632183908046
11	39679620	39679620	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	902	0	0	1168	2	0.170940170940171	315	2	0.625
11	39856278	39856278	G	C	SNP	ENSG00000221804	ENST00000408877	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*26778	NULL	0.194	-	-	-	no_errors	AC021749.1	Clone_based_ensembl_gene	ENSG00000221804	tier4	1008	0	0	733	653	47.0800288392213	432	108	19.9261992619926
11	40022764	40022764	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	887	0	0	1066	3	0.280636108512629	425	5	1.15740740740741
11	40034963	40034963	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1525	0	0	2074	3	0.144439094848339	573	0	0
11	40184520	40184520	T	C	SNP	LRRC4C	ENST00000527150	human	ensembl	70_37	-1	known	intronic	c.1-22117	e1-22117	0.999	-	-	-	no_errors	LRRC4C	HGNC	ENSG00000148948	tier3	1144	0	0	813	619	43.1960921144452	492	117	19.2118226600985
11	40227330	40227330	C	A	SNP	LRRC4C	ENST00000527150	human	ensembl	70_37	-1	known	intronic	c.1-64927	e1-64927	0.001	-	-	-	no_errors	LRRC4C	HGNC	ENSG00000148948	tier3	1334	1	0.0749063670411985	1820	1	0.0549148819330038	617	52	7.7727952167414
11	40256728	40256728	A	G	SNP	LRRC4C	ENST00000527150	human	ensembl	70_37	-1	known	intronic	c.1+57015	e0+57015	0.000	-	-	-	no_errors	LRRC4C	HGNC	ENSG00000148948	tier3	1175	0	0	1669	2	0.119688809096349	515	1	0.193798449612403
11	40931439	40931439	C	A	SNP	LRRC4C	ENST00000528697	human	ensembl	70_37	-1	known	intronic	c.1+23746	e0+23746	0.005	-	-	-	no_errors	LRRC4C	HGNC	ENSG00000148948	tier3	698	0	0	882	2	0.226244343891403	371	2	0.536193029490617
11	40985584	40985584	T	C	SNP	LRRC4C	ENST00000528697	human	ensembl	70_37	-1	known	intronic	c.1-30311	e1-30311	0.001	-	-	-	no_errors	LRRC4C	HGNC	ENSG00000148948	tier3	721	0	0	965	3	0.309597523219814	340	4	1.16279069767442
11	41536851	41536851	T	G	SNP	ENSG00000242729	ENST00000489849	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23133	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-124G5.1	Clone_based_vega_gene	ENSG00000242729	tier3	569	0	0	367	302	45.1420029895366	288	32	10
11	41552807	41552807	A	C	SNP	ENSG00000255388	ENST00000526978	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-124G5.3	Clone_based_vega_gene	ENSG00000255388	tier4	947	0	0	1271	2	0.157109190887667	420	3	0.709219858156028
11	41576958	41576958	G	A	SNP	ENSG00000255388	ENST00000526978	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-124G5.3	Clone_based_vega_gene	ENSG00000255388	tier4	1421	0	0	991	635	39.004914004914	479	108	18.3986371379898
11	43058388	43058388	C	T	SNP	ENSG00000254725	ENST00000532030	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*28848	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-111A24.1	Clone_based_vega_gene	ENSG00000254725	tier4	1258	0	0	1710	3	0.175131348511384	640	0	0
11	43265981	43265981	C	T	SNP	HNRNPKP3	ENST00000533565	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	HNRNPKP3	HGNC	ENSG00000251557	tier3	884	0	0	1210	6	0.493421052631579	510	1	0.195694716242661
11	44507608	44507608	T	G	SNP	ENSG00000255451	ENST00000528183	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15629	NULL	0.000	-	-	-	no_errors	RP11-58K22.1	Clone_based_vega_gene	ENSG00000255451	tier3	779	0	0	1174	2	0.170068027210884	430	1	0.232018561484919
11	44942886	44942886	G	T	SNP	TSPAN18	ENST00000340160	human	ensembl	70_37	+1	known	intronic	c.615+1336	e5+1336	0.028	-	-	-	no_errors	TSPAN18	HGNC	ENSG00000157570	tier4	216	0	0	167	142	45.9546925566343	93	23	19.8275862068966
11	45413393	45413393	T	G	SNP	ENSG00000255041	ENST00000528445	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-430H10.4	Clone_based_vega_gene	ENSG00000255041	tier3	558	0	0	697	59	7.8042328042328	265	0	0
11	48077530	48077530	G	A	SNP	PTPRJ	ENST00000418331	human	ensembl	70_37	+1	known	intronic	c.97-54080	e2-54080	0.001	-	-	-	no_errors	PTPRJ	HGNC	ENSG00000149177	tier3	1049	1	0.0951474785918173	914	787	46.2397179788484	412	117	21.9512195121951
11	48737934	48737934	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	782	0	0	1010	1	0.0989119683481701	404	4	0.980392156862745
11	48846936	48846936	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	761	0	0	992	3	0.301507537688442	368	0	0
11	48847540	48847540	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	129	0	0	196	2	1.01010101010101	54	2	3.57142857142857
11	48946514	48946514	C	A	SNP	TRIM51CP	ENST00000505076	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20732	NULL	0.000	-	-	-	no_coding_region:pseudogene	TRIM51CP	HGNC	ENSG00000249910	tier4	569	0	0	660	3	0.452488687782805	307	2	0.647249190938511
11	48955051	48955051	C	T	SNP	TRIM51CP	ENST00000505076	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12195	NULL	0.001	-	-	-	no_coding_region:pseudogene	TRIM51CP	HGNC	ENSG00000249910	tier4	940	0	0	1163	1	0.0858369098712446	539	6	1.10091743119266
11	48955586	48955586	G	T	SNP	TRIM51CP	ENST00000505076	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11660	NULL	0.040	-	-	-	no_coding_region:pseudogene	TRIM51CP	HGNC	ENSG00000249910	tier4	299	1	0.33112582781457	356	2	0.554016620498615	173	10	5.46448087431694
11	50182816	50182816	C	A	SNP	ENSG00000255500	ENST00000525487	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44516	NULL	0.291	-	-	-	no_coding_region:pseudogene	RP11-347H15.2	Clone_based_vega_gene	ENSG00000255500	tier4	1416	0	0	1796	2	0.111234705228031	665	0	0
11	50281968	50281968	C	T	SNP	ENSG00000254840	ENST00000528459	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.046	-	-	-	no_errors	RP11-574M7.1	Clone_based_vega_gene	ENSG00000254840	tier4	769	0	0	852	107	11.1574556830031	481	0	0
11	50724743	50724743	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	358	0	0	449	2	0.443458980044346	207	0	0
11	50736987	50736987	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	807	0	0	1106	3	0.270513976555455	488	0	0
11	50736994	50736994	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	777	0	0	1079	4	0.369344413665743	502	0	0
11	50747825	50747825	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	197	0	0	301	2	0.649350649350649	162	4	2.3121387283237
11	50758065	50758065	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	504	0	0	607	5	0.816993464052288	209	0	0
11	51235270	51235270	C	A	SNP	ENSG00000264637	ENST00000584740	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*28739	NULL	0.000	-	-	-	no_errors	AC110283.1	Clone_based_ensembl_gene	ENSG00000264637	tier4	694	0	0	414	440	51.4619883040936	279	64	18.6588921282799
11	51359594	51359594	A	G	SNP	OR4A6P	ENST00000534364	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*33870	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4A6P	HGNC	ENSG00000255078	tier4	617	0	0	886	2	0.224971878515186	464	3	0.642398286937901
11	51512282	51512282	C	T	SNP	OR4C46	ENST00000328188	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3000	NULL	0.008	-	-	-	no_errors	OR4C46	HGNC	ENSG00000185926	tier3	613	0	0	904	3	0.330396475770925	291	0	0
11	51570118	51570118	G	A	SNP	OR4C50P	ENST00000330155	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42318	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4C50P	HGNC	ENSG00000237610	tier4	1209	7	0.57518488085456	2028	16	0.782013685239492	764	27	3.40479192938209
11	51570121	51570121	T	C	SNP	OR4C50P	ENST00000330155	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42321	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4C50P	HGNC	ENSG00000237610	tier4	1225	7	0.568181818181818	2043	17	0.825242718446602	787	30	3.67197062423501
11	51571019	51571019	T	G	SNP	OR4C50P	ENST00000330155	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43219	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4C50P	HGNC	ENSG00000237610	tier4	527	0	0	748	2	0.266666666666667	335	0	0
11	51575620	51575620	A	G	SNP	OR4C50P	ENST00000330155	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-47820	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4C50P	HGNC	ENSG00000237610	tier4	764	0	0	1065	2	0.187441424554827	545	4	0.728597449908925
11	51577053	51577053	C	T	SNP	OR4C50P	ENST00000330155	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49253	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4C50P	HGNC	ENSG00000237610	tier4	295	0	0	383	3	0.77720207253886	174	2	1.13636363636364
11	51577100	51577100	T	C	SNP	OR4C50P	ENST00000330155	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49300	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR4C50P	HGNC	ENSG00000237610	tier4	421	0	0	574	2	0.347222222222222	307	0	0
11	51579956	51579956	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	172	0	0	257	10	3.74531835205993	72	2	2.63157894736842
11	54915569	54915569	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	424	0	0	563	2	0.353982300884956	114	0	0
11	55025815	55025815	G	C	SNP	TRIM48	ENST00000417545	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3929	NULL	0.000	-	-	-	no_errors	TRIM48	HGNC	ENSG00000150244	tier4	396	0	0	532	2	0.373831775700935	228	2	0.862068965517241
11	55095636	55095636	G	T	SNP	OR4A15	ENST00000314706	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39724	NULL	0.018	-	-	-	no_errors	OR4A15	HGNC	ENSG00000181958	tier4	836	2	0.238663484486874	543	415	43.3194154488518	407	123	23.1203007518797
11	55107791	55107791	G	T	SNP	OR4A15	ENST00000314706	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27569	NULL	0.014	-	-	-	no_errors	OR4A15	HGNC	ENSG00000181958	tier3	998	0	0	1278	8	0.622083981337481	492	7	1.40280561122244
11	55199776	55199776	A	G	SNP	OR4A10P	ENST00000526498	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*55199776	NULL	0.901	-	-	-	no_coding_region:pseudogene	OR4A10P	HGNC	ENSG00000254886	tier3	1596	0	0	1088	1004	47.9465138490926	609	110	15.2143845089903
11	55585413	55585413	C	G	SNP	OR5D16	ENST00000378396	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20815	NULL	0.000	-	-	-	no_errors	OR5D16	HGNC	ENSG00000205029	tier4	1231	0	0	1684	2	0.1185536455246	320	0	0
11	56227347	56227347	G	A	SNP	OR5R1	ENST00000312253	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41639	NULL	0.070	-	-	-	no_errors	OR5R1	HGNC	ENSG00000174942	tier4	678	0	0	469	400	45.9770114942529	307	78	20.2597402597403
11	56570146	56570146	T	C	SNP	OR5G5P	ENST00000378368	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.894	-	-	-	no_errors	OR5G5P	HGNC	ENSG00000205025	tier1	1383	1	0.0722021660649819	1991	36	1.77514792899408	565	0	0
11	57486115	57486115	A	C	SNP	TMX2	ENST00000278422	human	ensembl	70_37	+1	known	intronic	c.189+5836	e1+5836	0.001	-	-	-	no_errors	TMX2	HGNC	ENSG00000213593	tier3	509	0	0	831	3	0.359712230215827	395	2	0.50125313283208
11	57532320	57532320	A	G	SNP	CTNND1	ENST00000399050	human	ensembl	70_37	+1	known	intronic	c.1+2729	e0+2729	0.051	-	-	-	no_errors	CTNND1	HGNC	ENSG00000198561	tier3	762	0	0	1123	2	0.177777777777778	347	2	0.56980056980057
11	57876789	57876789	C	A	SNP	OR9Q1	ENST00000335397	human	ensembl	70_37	+1	known	intronic	c.1+53370	e0+53370	0.340	-	-	-	no_errors	OR9Q1	HGNC	ENSG00000186509	tier3	716	0	0	557	475	46.0271317829457	366	70	16.0550458715596
11	58605919	58605919	A	G	SNP	GLYATL2	ENST00000287275	human	ensembl	70_37	-1	known	intronic	c.79-78	e2-78	0.007	-	-	-	no_errors	GLYATL2	HGNC	ENSG00000156689	tier3	1190	0	0	823	583	41.3768630234209	419	119	22.1189591078067
11	59355590	59355590	G	A	SNP	OSBP	ENST00000263847	human	ensembl	70_37	-1	known	intronic	c.1678+5487	e9+5487	0.223	-	-	-	no_errors	OSBP	HGNC	ENSG00000110048	tier4	457	0	0	675	2	0.295420974889217	277	0	0
11	59576102	59576102	T	C	SNP	MRPL16	ENST00000300151	human	ensembl	70_37	-1	known	intronic	c.122-780	e3-780	0.000	-	-	-	no_errors	MRPL16	HGNC	ENSG00000166902	tier3	1309	0	0	1893	2	0.105485232067511	577	0	0
11	61205562	61205562	G	T	SNP	SDHAF2	ENST00000301761	human	ensembl	70_37	+1	known	missense	c.347	p.W116L	1.000	pfam_DUF339,superfamily_DUF339	pfam_DUF339,superfamily_DUF339	-	no_errors	SDHAF2	HGNC	ENSG00000167985	tier1	1184	0	0	1836	2	0.108754758020663	595	0	0
11	62710568	62710568	G	A	SNP	SLC22A6	ENST00000540654	human	ensembl	70_37	-1	known	intronic	c.786-6610	e6-6610	0.004	-	-	-	no_errors	SLC22A6	HGNC	ENSG00000197901	tier4	1620	0	0	2576	76	2.86036883703425	676	2	0.294117647058824
11	63844536	63844536	T	G	SNP	MACROD1	ENST00000255681	human	ensembl	70_37	-1	known	intronic	c.518-61783	e4-61783	0.571	-	-	-	no_errors	MACROD1	HGNC	ENSG00000133315	tier3	205	0	0	303	3	0.980392156862745	102	0	0
11	64727402	64727402	T	C	SNP	C11orf85	ENST00000301896	human	ensembl	70_37	-1	known	intronic	c.1+159	e0+159	0.000	-	-	-	no_errors	C11orf85	HGNC	ENSG00000168070	tier3	755	0	0	1365	3	0.219138056975895	361	3	0.821917808219178
11	64800742	64800742	T	G	SNP	SNX15	ENST00000377244	human	ensembl	70_37	+1	known	intronic	c.256+719	e3+719	0.004	-	-	-	no_errors	SNX15	HGNC	ENSG00000110025	tier4	979	0	0	1813	2	0.110071546505228	419	0	0
11	64988108	64988108	G	T	SNP	SLC22A20	ENST00000525264	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	SLC22A20	HGNC	ENSG00000197847	tier4	973	0	0	1743	2	0.114613180515759	604	0	0
11	65064500	65064500	G	A	SNP	POLA2	ENST00000265465	human	ensembl	70_37	+1	known	intronic	c.1648-91	e18-91	0.000	-	-	-	no_errors	POLA2	HGNC	ENSG00000014138	tier3	1350	0	0	1196	1001	45.5414012738854	639	122	15.9895150720839
11	65068490	65068490	T	G	SNP	POLA2	ENST00000525924	human	ensembl	70_37	+1	putative	intronic	c.657-4354	e9-4354	0.043	-	-	-	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	POLA2	HGNC	ENSG00000014138	tier4	651	0	0	1014	4	0.392541707556428	350	1	0.28328611898017
11	65508394	65508394	T	A	SNP	OVOL1	ENST00000335987	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46451	NULL	0.120	-	-	-	no_errors	OVOL1	HGNC	ENSG00000172818	tier4	507	0	0	484	504	51.0121457489879	247	51	17.1140939597315
11	66623496	66623496	A	C	SNP	PC	ENST00000393958	human	ensembl	70_37	-1	known	intronic	c.1369-2642	e10-2642	0.006	-	-	-	no_errors	PC	HGNC	ENSG00000173599	tier3	1009	0	0	1647	5	0.301023479831427	500	0	0
11	68553093	68553093	A	C	SNP	CPT1A	ENST00000265641	human	ensembl	70_37	-1	known	intronic	c.968-615	e9-615	0.006	-	-	-	no_errors	CPT1A	HGNC	ENSG00000110090	tier4	1767	0	0	2859	6	0.209424083769634	729	1	0.136986301369863
11	68760699	68760699	A	C	SNP	MRGPRD	ENST00000309106	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-12244	NULL	0.159	-	-	-	no_errors	MRGPRD	HGNC	ENSG00000172938	tier4	516	0	0	803	3	0.372208436724566	278	2	0.714285714285714
11	69645022	69645022	A	T	SNP	FGF3	ENST00000334134	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11321	NULL	0.000	-	-	-	no_errors	FGF3	HGNC	ENSG00000186895	tier3	521	0	0	327	314	48.9859594383775	217	54	19.9261992619926
11	71668226	71668226	A	G	SNP	RNF121	ENST00000361756	human	ensembl	70_37	+1	known	intronic	c.64-47	e2-47	0.002	-	-	-	no_errors	RNF121	HGNC	ENSG00000137522	tier3	1060	0	0	1462	4	0.272851296043656	408	3	0.72992700729927
11	72329370	72329370	G	C	SNP	PDE2A	ENST00000334456	human	ensembl	70_37	-1	known	intronic	c.145-9575	e3-9575	0.000	-	-	-	no_errors	PDE2A	HGNC	ENSG00000186642	tier3	282	0	0	196	176	47.3118279569892	140	28	16.6666666666667
11	72692248	72692248	A	C	SNP	FCHSD2	ENST00000409418	human	ensembl	70_37	-1	known	intronic	c.705+2885	e8+2885	0.007	-	-	-	no_errors	FCHSD2	HGNC	ENSG00000137478	tier3	713	0	0	1056	2	0.189035916824197	311	0	0
11	74396029	74396029	C	T	SNP	ENSG00000223202	ENST00000411270	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-240	NULL	0.000	-	-	-	no_errors	7SK	RFAM	ENSG00000223202	tier3	1032	0	0	702	558	44.2857142857143	396	102	20.3187250996016
11	74987562	74987562	T	C	SNP	ARRB1	ENST00000393505	human	ensembl	70_37	-1	known	intronic	c.776+321	e10+321	0.000	-	-	-	no_errors	ARRB1	HGNC	ENSG00000137486	tier3	1049	0	0	1349	171	11.2426035502959	566	0	0
11	75323593	75323593	T	G	SNP	MAP6	ENST00000304771	human	ensembl	70_37	-1	known	intronic	c.906-4226	e2-4226	0.006	-	-	-	no_errors	MAP6	HGNC	ENSG00000171533	tier3	604	0	0	850	1	0.117508813160987	310	2	0.641025641025641
11	78243418	78243418	T	A	SNP	NARS2	ENST00000281038	human	ensembl	70_37	-1	known	intronic	c.595-3436	e6-3436	0.030	-	-	-	no_errors	NARS2	HGNC	ENSG00000137513	tier4	1814	0	0	2874	2	0.0695410292072323	819	0	0
11	79162135	79162135	A	T	SNP	TENM4	ENST00000278550	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-381146	NULL	0.000	-	-	-	no_errors	TENM4	HGNC	ENSG00000149256	tier4	2886	5	0.172950536146662	3897	3	0.0769033581133043	511	12	2.29445506692161
11	79216955	79216955	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1076	0	0	692	604	46.5690053970702	413	93	18.3070866141732
11	79378113	79378113	C	T	SNP	ENSG00000221551	ENST00000408624	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-25310	NULL	0.000	-	-	-	no_errors	AP000478.1	Clone_based_ensembl_gene	ENSG00000221551	tier3	977	0	0	663	531	44.4723618090452	400	96	19.3548387096774
11	79829527	79829527	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1321	0	0	1818	3	0.164744645799012	653	0	0
11	81852119	81852119	G	A	SNP	ENSG00000245832	ENST00000500502	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.009	-	-	-	no_errors	RP11-179A16.1	Clone_based_vega_gene	ENSG00000245832	tier2	1096	0	0	1485	2	0.134408602150538	509	46	8.22898032200358
11	83336033	83336033	T	G	SNP	DLG2	ENST00000376104	human	ensembl	70_37	-1	known	intronic	c.1940+8221	e17+8221	0.007	-	-	-	no_errors	DLG2	HGNC	ENSG00000150672	tier3	1016	0	0	1288	2	0.154918667699458	545	4	0.728597449908925
11	84125411	84125411	T	G	SNP	DLG2	ENST00000376104	human	ensembl	70_37	-1	known	intronic	c.519+120202	e5+120202	0.000	-	-	-	no_errors	DLG2	HGNC	ENSG00000150672	tier3	830	0	0	1127	3	0.265486725663717	338	3	0.879765395894428
11	84720182	84720182	C	A	SNP	DLG2	ENST00000376104	human	ensembl	70_37	-1	known	intronic	c.357+102523	e4+102523	0.000	-	-	-	no_errors	DLG2	HGNC	ENSG00000150672	tier4	1778	0	0	2627	4	0.151917964299278	610	4	0.645161290322581
11	84840438	84840438	G	T	SNP	DLG2	ENST00000376104	human	ensembl	70_37	-1	known	intronic	c.283-17659	e4-17659	0.000	-	-	-	no_errors	DLG2	HGNC	ENSG00000150672	tier2	1544	1	0.0647249190938511	2058	2	0.0970873786407767	656	8	1.20481927710843
11	85027366	85027366	T	C	SNP	DLG2	ENST00000376104	human	ensembl	70_37	-1	known	intronic	c.41-30957	e2-30957	0.001	-	-	-	no_errors	DLG2	HGNC	ENSG00000150672	tier3	1297	0	0	915	780	45.9905660377358	469	126	21.1764705882353
11	86128195	86128195	A	G	SNP	CCDC81	ENST00000445632	human	ensembl	70_37	+1	known	intronic	c.1691+1840	e13+1840	0.013	-	-	-	no_errors	CCDC81	HGNC	ENSG00000149201	tier4	918	1	0.108813928182807	724	644	46.9730123997082	127	10	7.2992700729927
11	87077999	87077999	C	G	SNP	PSMA2P1	ENST00000526365	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-36905	NULL	0.000	-	-	-	no_coding_region:pseudogene	PSMA2P1	HGNC	ENSG00000254582	tier3	857	0	0	543	501	47.9425837320574	399	66	14.1935483870968
11	87433291	87433291	G	T	SNP	ENSG00000255183	ENST00000532606	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-2988	NULL	0.000	-	-	-	no_errors	RP11-720D4.3	Clone_based_vega_gene	ENSG00000255183	tier3	1685	1	0.0593119810201661	1872	166	8.14524043179588	673	0	0
11	87833387	87833387	A	C	SNP	ENSG00000255241	ENST00000528458	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-164N3.3	Clone_based_vega_gene	ENSG00000255241	tier3	1411	0	0	1918	4	0.208008320332813	592	0	0
11	88567445	88567445	A	C	SNP	GRM5	ENST00000305447	human	ensembl	70_37	-1	known	intronic	c.911+15629	e2+15629	0.003	-	-	-	no_errors	GRM5	HGNC	ENSG00000168959	tier3	746	0	0	998	2	0.2	433	0	0
11	88757729	88757729	A	G	SNP	GRM5	ENST00000305447	human	ensembl	70_37	-1	known	intronic	c.661+22651	e1+22651	0.009	-	-	-	no_errors	GRM5	HGNC	ENSG00000168959	tier3	1646	0	0	2134	2	0.0936329588014981	624	0	0
11	89208090	89208090	T	A	SNP	NOX4	ENST00000413594	human	ensembl	70_37	-1	known	intronic	c.216+15536	e2+15536	0.004	-	-	-	no_errors	NOX4	HGNC	ENSG00000086991	tier3	1645	0	0	1243	1000	44.5831475702185	620	144	18.798955613577
11	89308747	89308747	T	C	SNP	NOX4	ENST00000542487	human	ensembl	70_37	-1	known	intronic	c.1+13861	e0+13861	0.001	-	-	-	no_errors	NOX4	HGNC	ENSG00000086991	tier3	882	0	0	1123	1	0.0889679715302491	397	2	0.498753117206983
11	89365074	89365074	C	T	SNP	NOX4	ENST00000542487	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-141368	NULL	0.000	-	-	-	no_errors	NOX4	HGNC	ENSG00000086991	tier3	736	2	0.2710027100271	473	378	44.4183313748531	360	89	19.8218262806236
11	89610064	89610064	C	A	SNP	TRIM64B	ENST00000329862	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-879	NULL	0.002	-	-	-	no_errors	TRIM64B	HGNC	ENSG00000189253	tier3	824	0	0	1085	3	0.275229357798165	527	4	0.75046904315197
11	89749406	89749406	A	C	SNP	TRIM49C	ENST00000448984	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18974	NULL	0.008	-	-	-	no_errors	TRIM49C	HGNC	ENSG00000204449	tier3	902	0	0	1251	2	0.159616919393456	502	0	0
11	91555951	91555951	G	A	SNP	ENSG00000255332	ENST00000525832	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*10491	NULL	0.000	-	-	-	no_errors	RP11-201M22.1	Clone_based_vega_gene	ENSG00000255332	tier3	1364	0	0	944	788	45.4702827466821	536	104	16.25
11	92692205	92692205	T	G	SNP	MTNR1B	ENST00000257068	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-10687	NULL	0.000	-	-	-	no_errors	MTNR1B	HGNC	ENSG00000134640	tier4	866	0	0	1060	2	0.188323917137476	436	1	0.22883295194508
11	93297350	93297350	T	C	SNP	C11orf75	ENST00000298966	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-84995	NULL	0.007	-	-	-	no_errors	C11orf75	HGNC	ENSG00000166002	tier3	583	0	0	802	1	0.12453300124533	305	2	0.651465798045603
11	93531305	93531305	T	G	SNP	MED17	ENST00000251871	human	ensembl	70_37	+1	known	intronic	c.1328+420	e8+420	0.000	-	-	-	no_errors	MED17	HGNC	ENSG00000042429	tier4	1044	0	0	1487	5	0.334896182183523	443	1	0.224719101123596
11	94266914	94266914	T	C	SNP	PIWIL4	ENST00000299001	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33771	NULL	0.001	-	-	-	no_errors	PIWIL4	HGNC	ENSG00000134627	tier3	988	0	0	1466	3	0.204220558202859	416	4	0.952380952380952
11	94493698	94493698	G	T	SNP	AMOTL1	ENST00000299004	human	ensembl	70_37	+1	putative	intronic	c.136+19544	e2+19544	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	AMOTL1	HGNC	ENSG00000166025	tier4	746	0	0	902	4	0.441501103752759	286	3	1.03806228373702
11	94979329	94979329	C	G	SNP	SESN3	ENST00000536441	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15305	NULL	0.000	-	-	-	no_errors	SESN3	HGNC	ENSG00000149212	tier3	992	0	0	1526	4	0.261096605744125	462	2	0.43010752688172
11	96629959	96629959	T	C	SNP	ENSG00000254587	ENST00000527528	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*45137	NULL	0.637	-	-	-	no_errors	RP11-360K13.1	Clone_based_vega_gene	ENSG00000254587	tier4	820	0	0	1143	7	0.607638888888889	394	3	0.75187969924812
11	97274683	97274683	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1661	1	0.0601322910402886	1166	1124	49.0615451767787	454	153	25.2059308072488
11	97828972	97828972	C	A	SNP	ENSG00000255502	ENST00000526385	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15210	NULL	0.010	-	-	-	no_errors	RP11-379J13.2	Clone_based_vega_gene	ENSG00000255502	tier4	1908	0	0	2564	65	2.46960486322188	843	3	0.354609929078014
11	98240272	98240272	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2499	1	0.04	2343	1002	29.9551569506726	962	2	0.206185567010309
11	98418872	98418872	A	G	SNP	ENSG00000254939	ENST00000527289	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*16932	NULL	0.164	-	-	-	no_coding_region:pseudogene	CTD-2342I9.1	Clone_based_vega_gene	ENSG00000254939	tier4	1053	0	0	1385	1	0.0721500721500722	410	11	2.61282660332542
11	98720444	98720444	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	713	0	0	772	118	13.2584269662921	391	4	1.0126582278481
11	99089094	99089094	C	A	SNP	CNTN5	ENST00000524871	human	ensembl	70_37	+1	known	intronic	c.1-106983	e1-106983	0.000	-	-	-	no_errors	CNTN5	HGNC	ENSG00000149972	tier4	945	0	0	1174	54	4.39739413680782	551	0	0
11	99483726	99483726	T	G	SNP	CNTN5	ENST00000279463	human	ensembl	70_37	+1	known	intronic	c.55+56726	e1+56726	0.002	-	-	-	no_errors	CNTN5	HGNC	ENSG00000149972	tier2	1259	0	0	1679	1	0.0595238095238095	523	4	0.754716981132075
11	99548180	99548180	A	C	SNP	CNTN5	ENST00000279463	human	ensembl	70_37	+1	known	intronic	c.55+121180	e1+121180	0.000	-	-	-	no_errors	CNTN5	HGNC	ENSG00000149972	tier3	848	0	0	1166	6	0.511945392491468	379	5	1.30208333333333
11	100099398	100099398	C	A	SNP	CNTN5	ENST00000279463	human	ensembl	70_37	+1	known	intronic	c.2005+3854	e14+3854	0.014	-	-	-	no_errors	CNTN5	HGNC	ENSG00000149972	tier4	723	0	0	632	312	33.0508474576271	499	5	0.992063492063492
11	102865616	102865616	A	C	SNP	MMP13	ENST00000340273	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-39182	NULL	0.003	-	-	-	no_errors	MMP13	HGNC	ENSG00000137745	tier4	1634	0	0	2210	2	0.0904159132007233	782	2	0.254452926208651
11	103926074	103926074	C	G	SNP	PDGFD	ENST00000393158	human	ensembl	70_37	-1	known	intronic	c.125-55091	e2-55091	0.068	-	-	-	no_errors	PDGFD	HGNC	ENSG00000170962	tier4	1066	0	0	1527	4	0.261267145656434	522	1	0.191204588910134
11	104345473	104345473	A	T	SNP	ENSG00000256422	ENST00000536529	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-886D15.1	Clone_based_vega_gene	ENSG00000256422	tier3	1081	0	0	1589	3	0.188442211055276	593	2	0.336134453781513
11	105395316	105395316	A	G	SNP	ENSG00000254998	ENST00000528811	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-94P11.4	Clone_based_vega_gene	ENSG00000254998	tier4	682	0	0	974	2	0.204918032786885	290	2	0.684931506849315
11	105432149	105432149	T	G	SNP	GRIA4	ENST00000282499	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-49576	NULL	0.020	-	-	-	no_errors	GRIA4	HGNC	ENSG00000152578	tier4	826	0	0	565	486	46.2416745956232	389	74	15.9827213822894
11	106192531	106192531	G	A	SNP	ENSG00000255065	ENST00000529025	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*10013	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-680E19.2	Clone_based_vega_gene	ENSG00000255065	tier4	791	0	0	970	2	0.205761316872428	328	50	13.1578947368421
11	106243012	106243012	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1402	1	0.0711743772241993	1104	970	46.7695274831244	306	79	20.5194805194805
11	106755059	106755059	T	C	SNP	GUCY1A2	ENST00000282249	human	ensembl	70_37	-1	known	intronic	c.1206+55127	e4+55127	0.025	-	-	-	no_errors	GUCY1A2	HGNC	ENSG00000152402	tier3	1391	0	0	959	836	46.5219810795771	562	152	21.2885154061625
11	108354319	108354319	T	C	SNP	KDELC2	ENST00000323468	human	ensembl	70_37	-1	known	intronic	c.685-1370	e4-1370	0.035	-	-	-	no_errors	KDELC2	HGNC	ENSG00000178202	tier3	560	0	0	823	2	0.242424242424242	345	1	0.289017341040462
11	108392149	108392149	C	A	SNP	EXPH5	ENST00000265843	human	ensembl	70_37	-1	known	intronic	c.493-3049	e5-3049	0.000	-	-	-	no_errors	EXPH5	HGNC	ENSG00000110723	tier3	758	0	0	1136	3	0.263388937664618	424	8	1.85185185185185
11	108712347	108712347	C	T	SNP	DDX10	ENST00000322536	human	ensembl	70_37	+1	known	intronic	c.2247+144	e15+144	0.000	-	-	-	no_errors	DDX10	HGNC	ENSG00000178105	tier3	995	0	0	1368	3	0.218818380743982	613	0	0
11	108845341	108845341	A	C	SNP	ENSG00000201243	ENST00000364373	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-30903	NULL	0.000	-	-	-	no_errors	U6	RFAM	ENSG00000201243	tier3	730	0	0	519	463	47.1486761710794	290	61	17.3789173789174
11	109721781	109721781	A	C	SNP	ENSG00000254659	ENST00000534252	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27208	NULL	0.000	-	-	-	no_errors	RP11-262A12.1	Clone_based_vega_gene	ENSG00000254659	tier4	628	0	0	848	1	0.117647058823529	265	2	0.746268656716418
11	112420270	112420270	C	T	SNP	ENSG00000255484	ENST00000525984	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.028	-	-	-	no_errors	RP11-65M17.1	Clone_based_vega_gene	ENSG00000255484	tier4	798	1	0.125156445556946	571	501	46.7350746268657	315	68	17.7545691906005
11	112640754	112640754	G	C	SNP	ENSG00000254626	ENST00000524772	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17273	NULL	0.909	-	-	-	no_errors	RP11-27G22.1	Clone_based_vega_gene	ENSG00000254626	tier2	1143	0	0	1394	4	0.285714285714286	579	2	0.344234079173838
11	113939066	113939066	C	T	SNP	ZBTB16	ENST00000335953	human	ensembl	70_37	+1	known	intronic	c.1268+3776	e1+3776	0.000	-	-	-	no_errors	ZBTB16	HGNC	ENSG00000109906	tier3	1539	0	0	1905	261	12.0443008767882	689	0	0
11	114480089	114480089	G	A	SNP	NXPE4	ENST00000375478	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14608	NULL	0.008	-	-	-	no_errors	NXPE4	HGNC	ENSG00000137634	tier3	526	1	0.189753320683112	387	360	48.1927710843373	262	54	16.9811320754717
11	114622577	114622577	T	G	SNP	NXPE2	ENST00000389586	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*44925	NULL	0.000	-	-	-	no_errors	NXPE2	HGNC	ENSG00000204361	tier4	688	0	0	969	2	0.205973223480947	320	0	0
11	114762727	114762727	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	684	0	0	442	393	47.0658682634731	275	59	17.6646706586826
11	115409512	115409512	A	G	SNP	CADM1	ENST00000452722	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34400	NULL	0.029	-	-	-	no_errors	CADM1	HGNC	ENSG00000182985	tier3	842	0	0	1153	1	0.0866551126516464	433	3	0.688073394495413
11	116275278	116275278	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1061	0	0	1412	26	1.80681028492008	354	62	14.9038461538462
11	117725434	117725434	G	A	SNP	FXYD6	ENST00000260282	human	ensembl	70_37	-1	known	intronic	c.1+3492	e0+3492	0.010	-	-	-	no_errors	FXYD6	HGNC	ENSG00000137726	tier4	722	1	0.137931034482759	530	418	44.0928270042194	304	69	18.4986595174263
11	118530928	118530928	T	G	SNP	TREH	ENST00000264029	human	ensembl	70_37	-1	known	intronic	c.1103-255	e11-255	0.000	-	-	-	no_errors	TREH	HGNC	ENSG00000118094	tier4	661	0	0	1039	11	1.04761904761905	416	2	0.475059382422803
11	119157240	119157240	C	T	SNP	CBL	ENST00000264033	human	ensembl	70_37	+1	known	intronic	c.1941+964	e11+964	0.000	-	-	-	no_errors	CBL	HGNC	ENSG00000110395	tier3	1378	0	0	2127	2	0.0939408172851104	681	2	0.292825768667643
11	120057487	120057487	T	G	SNP	TRIM29	ENST00000341846	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-48748	NULL	0.001	-	-	-	no_errors	TRIM29	HGNC	ENSG00000137699	tier3	574	0	0	824	2	0.241837968561064	235	0	0
11	120113436	120113436	C	G	SNP	POU2F3	ENST00000543440	human	ensembl	70_37	+1	known	intronic	c.35-3722	e2-3722	0.000	-	-	-	no_errors	POU2F3	HGNC	ENSG00000137709	tier2	334	0	0	449	1	0.22075055187638	166	2	1.19047619047619
11	123733456	123733456	T	A	SNP	OR8D4	ENST00000321355	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-43683	NULL	0.380	-	-	-	no_errors	OR8D4	HGNC	ENSG00000181518	tier4	1399	0	0	1888	6	0.316789862724393	643	6	0.924499229583975
11	125032020	125032020	T	C	SNP	ENSG00000254880	ENST00000532316	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-687M24.5	Clone_based_vega_gene	ENSG00000254880	tier3	1343	0	0	941	751	44.3591258121677	482	93	16.1458333333333
11	125254648	125254648	A	C	SNP	PKNOX2	ENST00000298282	human	ensembl	70_37	+1	known	intronic	c.228-799	e3-799	0.000	-	-	-	no_errors	PKNOX2	HGNC	ENSG00000165495	tier3	1224	0	0	1643	3	0.182149362477231	383	2	0.519480519480519
11	126363005	126363005	A	C	SNP	KIRREL3	ENST00000525144	human	ensembl	70_37	-1	known	intronic	c.434-19644	e5-19644	0.000	-	-	-	no_errors	KIRREL3	HGNC	ENSG00000149571	tier3	313	0	0	467	2	0.426439232409382	154	0	0
11	126698882	126698882	C	T	SNP	KIRREL3	ENST00000525144	human	ensembl	70_37	-1	known	intronic	c.55+171469	e1+171469	0.000	-	-	-	no_errors	KIRREL3	HGNC	ENSG00000149571	tier4	883	0	0	588	589	50	364	98	21.0300429184549
11	127107590	127107590	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1063	1	0.0938967136150235	686	571	45.389507154213	480	138	22.3300970873786
11	129189798	129189798	A	T	SNP	ARHGAP32	ENST00000525234	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-155480	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	ARHGAP32	HGNC	ENSG00000134909	tier3	593	0	0	426	378	47.0149253731343	268	58	17.7914110429448
11	129257876	129257876	T	G	SNP	BARX2	ENST00000281437	human	ensembl	70_37	+1	known	intronic	c.187+11759	e1+11759	0.146	-	-	-	no_errors	BARX2	HGNC	ENSG00000043039	tier4	1465	0	0	2136	4	0.186741363211951	588	2	0.336134453781513
11	131346220	131346220	T	G	SNP	NTM	ENST00000539799	human	ensembl	70_37	+1	known	intronic	c.82+105437	e1+105437	0.000	-	-	-	no_errors	NTM	HGNC	ENSG00000182667	tier3	1495	0	0	2028	4	0.196753566158387	548	4	0.723327305605787
11	131569241	131569241	G	T	SNP	NTM	ENST00000539799	human	ensembl	70_37	+1	known	intronic	c.83-212217	e2-212217	0.000	-	-	-	no_errors	NTM	HGNC	ENSG00000182667	tier4	1048	1	0.0952380952380952	748	592	44.1461595824012	388	124	24.21875
11	131691081	131691081	A	C	SNP	NTM	ENST00000539799	human	ensembl	70_37	+1	known	intronic	c.83-90377	e2-90377	0.000	-	-	-	no_errors	NTM	HGNC	ENSG00000182667	tier3	1843	0	0	2291	3	0.130718954248366	778	0	0
11	132233225	132233225	T	G	SNP	NTM	ENST00000539799	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*28185	NULL	0.000	-	-	-	no_errors	NTM	HGNC	ENSG00000182667	tier4	858	0	0	1239	2	0.16116035455278	436	1	0.22883295194508
11	132297050	132297050	G	A	SNP	OPCML	ENST00000541867	human	ensembl	70_37	-1	known	intronic	c.965-6863	e8-6863	0.000	-	-	-	no_errors	OPCML	HGNC	ENSG00000183715	tier3	1246	0	0	1715	7	0.405327156919514	576	3	0.512820512820513
11	132544169	132544169	G	T	SNP	OPCML	ENST00000541867	human	ensembl	70_37	-1	known	intronic	c.168-16955	e2-16955	0.000	-	-	-	no_errors	OPCML	HGNC	ENSG00000183715	tier3	650	0	0	973	2	0.205128205128205	308	4	1.28205128205128
11	134659145	134659145	C	T	SNP	LOC729305	ENST00000513405	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*25441	NULL	0.002	-	-	-	no_errors	RP11-469N6.1	Clone_based_vega_gene	ENSG00000251226	tier3	423	1	0.234741784037559	292	305	51.0887772194305	175	54	23.2758620689655
11	134685456	134685456	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	586	0	0	808	2	0.246913580246914	300	2	0.662251655629139
11	134851097	134851097	G	C	SNP	ENSG00000268936	ENST00000597621	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-4296	NULL	0.009	-	-	-	no_errors	AP003062.1	Clone_based_ensembl_gene	ENSG00000268936	tier3	274	0	0	245	131	34.7480106100796	199	0	0
12	173563	173563	G	T	SNP	IQSEC3	ENST00000326261	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2486	NULL	0.082	-	-	-	no_errors	IQSEC3	HGNC	ENSG00000120645	tier4	425	0	0	637	5	0.777604976671851	188	2	1.05263157894737
12	1452943	1452943	A	C	SNP	ERC1	ENST00000360905	human	ensembl	70_37	+1	known	intronic	c.2781-28056	e15-28056	0.014	-	-	-	no_errors	ERC1	HGNC	ENSG00000082805	tier2	1078	0	0	1470	2	0.135869565217391	472	0	0
12	2441576	2441576	C	A	SNP	CACNA1C	ENST00000399634	human	ensembl	70_37	+1	known	intronic	c.478-116566	e4-116566	0.000	-	-	-	no_errors	CACNA1C	HGNC	ENSG00000151067	tier2	1318	0	0	1729	1	0.0577700751010976	595	3	0.5
12	3710568	3710568	G	A	SNP	EFCAB4B	ENST00000440314	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*13953	NULL	0.000	-	-	-	no_errors	EFCAB4B	HGNC	ENSG00000130038	tier2	2110	0	0	1488	1192	44.4444444444444	630	156	19.8473282442748
12	4387725	4387725	C	G	SNP	CCND2	ENST00000261254	human	ensembl	70_37	+1	known	intronic	c.412-201	e3-201	0.162	-	-	-	no_errors	CCND2	HGNC	ENSG00000118971	tier2	778	0	0	548	516	48.4962406015038	311	88	21.9451371571072
12	4614788	4614788	G	T	SNP	C12orf4	ENST00000261250	human	ensembl	70_37	-1	known	intronic	c.1163-242	e9-242	0.000	-	-	-	no_errors	C12orf4	HGNC	ENSG00000047621	tier4	1062	0	0	1628	4	0.245098039215686	470	0	0
12	5060715	5060715	G	T	SNP	KCNA1	ENST00000382545	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*38683	NULL	0.000	-	-	-	no_errors	KCNA1	HGNC	ENSG00000111262	tier2	688	4	0.578034682080925	771	38	4.69715698393078	338	0	0
12	5346867	5346867	A	C	SNP	ENSG00000256115	ENST00000540237	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-319E16.1	Clone_based_vega_gene	ENSG00000256115	tier2	975	0	0	1293	2	0.154440154440154	380	2	0.520833333333333
12	5433080	5433080	T	C	SNP	ENSG00000256417	ENST00000537192	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.014	-	-	-	no_errors	RP11-1038A11.3	Clone_based_vega_gene	ENSG00000256417	tier2	1360	0	0	1905	4	0.209533787323206	592	0	0
12	8610538	8610538	A	G	SNP	CLEC6A	ENST00000382073	human	ensembl	70_37	+1	known	missense	c.76	p.I26V	0.001	NULL	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	-	no_errors	CLEC6A	HGNC	ENSG00000205846	tier1	680	0	0	940	3	0.31813361611877	333	0	0
12	13453609	13453609	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	997	0	0	1430	2	0.139664804469274	437	4	0.90702947845805
12	14212134	14212134	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	769	0	0	1081	2	0.184672206832872	412	0	0
12	15241747	15241747	G	T	SNP	RERG	ENST00000256953	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*20297	NULL	0.000	-	-	-	no_errors	RERG	HGNC	ENSG00000134533	tier2	1145	1	0.087260034904014	802	644	44.536652835408	434	86	16.5384615384615
12	15808488	15808488	A	C	SNP	EPS8	ENST00000281172	human	ensembl	70_37	-1	known	intronic	c.1102-1261	e12-1261	0.961	-	-	-	no_errors	EPS8	HGNC	ENSG00000151491	tier2	1681	0	0	2547	1	0.0392464678178964	552	2	0.36101083032491
12	18084034	18084034	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1143	1	0.0874125874125874	800	644	44.5983379501385	426	96	18.3206106870229
12	18675287	18675287	G	A	SNP	PIK3C2G	ENST00000538779	human	ensembl	70_37	+1	known	intronic	c.3324-15803	e24-15803	0.246	-	-	-	no_errors	PIK3C2G	HGNC	ENSG00000139144	tier4	1233	0	0	832	670	44.5478723404255	512	106	16.9871794871795
12	19361846	19361846	G	T	SNP	PLEKHA5	ENST00000317589	human	ensembl	70_37	+1	known	intronic	c.228-45028	e4-45028	0.106	-	-	-	no_errors	PLEKHA5	HGNC	ENSG00000052126	tier2	1519	0	0	2197	3	0.136301681054066	824	2	0.242130750605327
12	20451532	20451532	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	647	0	0	885	3	0.337457817772778	362	0	0
12	21182301	21182301	G	T	SNP	SLCO1B3	ENST00000553473	human	ensembl	70_37	+1	known	intronic	c.1866-37952	e14-37952	0.147	-	-	-	no_errors	SLCO1B3	HGNC	ENSG00000111700	tier4	917	2	0.217627856365615	650	418	39.1385767790262	374	71	15.9550561797753
12	21189497	21189497	A	T	SNP	SLCO1B3	ENST00000553473	human	ensembl	70_37	+1	known	intronic	c.1866-30756	e14-30756	0.234	-	-	-	no_errors	SLCO1B3	HGNC	ENSG00000111700	tier4	496	0	0	610	2	0.326797385620915	226	0	0
12	22307442	22307442	T	G	SNP	ST8SIA1	ENST00000544732	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.023	-	-	-	no_errors	ST8SIA1	HGNC	ENSG00000111728	tier4	1567	0	0	2286	2	0.0874125874125874	768	1	0.130039011703511
12	23096652	23096652	A	T	SNP	ENSG00000256995	ENST00000538317	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.023	-	-	-	no_errors	RP11-114G22.1	Clone_based_vega_gene	ENSG00000256995	tier2	1568	0	0	1059	885	45.5246913580247	560	137	19.6556671449067
12	23255419	23255419	A	C	SNP	ENSG00000256995	ENST00000540895	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-114G22.1	Clone_based_vega_gene	ENSG00000256995	tier2	1618	0	0	1446	623	30.1111648139198	829	0	0
12	24274307	24274307	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	611	0	0	793	2	0.251572327044025	292	2	0.675675675675676
12	24890814	24890814	T	G	SNP	ENSG00000255745	ENST00000536131	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-625L16.1	Clone_based_vega_gene	ENSG00000255745	tier2	768	0	0	1033	3	0.289296046287367	335	1	0.29673590504451
12	25116277	25116277	A	C	SNP	BCAT1	ENST00000261192	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14411	NULL	0.153	-	-	-	no_errors	BCAT1	HGNC	ENSG00000060982	tier4	489	0	0	731	3	0.408719346049046	236	2	0.840336134453781
12	25664922	25664922	C	T	SNP	IFLTD1	ENST00000458174	human	ensembl	70_37	-1	known	intronic	c.1189+6807	e7+6807	0.012	-	-	-	no_errors	IFLTD1	HGNC	ENSG00000152936	tier4	1030	1	0.0969932104752667	749	592	44.1461595824012	471	132	21.8905472636816
12	27181905	27181905	A	G	SNP	MED21	ENST00000536503	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	MED21	HGNC	ENSG00000152944	tier1	1333	0	0	2047	1	0.048828125	533	4	0.74487895716946
12	27727169	27727169	A	G	SNP	PPFIBP1	ENST00000318304	human	ensembl	70_37	+1	known	intronic	c.1-3916	e1-3916	0.000	-	-	-	no_errors	PPFIBP1	HGNC	ENSG00000110841	tier2	962	0	0	1442	4	0.276243093922652	432	1	0.23094688221709
12	28578074	28578074	A	C	SNP	CCDC91	ENST00000381259	human	ensembl	70_37	+1	known	intronic	c.763-25020	e8-25020	0.006	-	-	-	no_errors	CCDC91	HGNC	ENSG00000123106	tier4	742	0	0	1049	1	0.0951474785918173	395	4	1.00250626566416
12	28893564	28893564	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1004	0	0	1328	2	0.150262960180316	417	0	0
12	30679207	30679207	T	G	SNP	ENSG00000258202	ENST00000551867	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*33972	NULL	0.076	-	-	-	no_coding_region:pseudogene	RP11-776A13.2	Clone_based_vega_gene	ENSG00000258202	tier4	626	0	0	872	2	0.22883295194508	298	3	0.996677740863787
12	31054366	31054366	T	C	SNP	TSPAN11	ENST00000261177	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-52560	NULL	0.157	-	-	-	no_errors	TSPAN11	HGNC	ENSG00000110900	tier4	937	0	0	1172	3	0.25531914893617	419	0	0
12	31312040	31312040	A	C	SNP	LOC100509445	ENST00000398963	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-551L14.1	Clone_based_vega_gene	ENSG00000177359	tier2	1322	0	0	1723	2	0.115874855156431	529	0	0
12	31600672	31600672	T	G	SNP	DENND5B	ENST00000306833	human	ensembl	70_37	-1	known	missense	c.1766	p.Y589S	1.000	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	-	no_errors	DENND5B	HGNC	ENSG00000170456	tier1	871	0	0	1460	3	0.205058099794942	396	1	0.251889168765743
12	32789167	32789167	G	T	SNP	FGD4	ENST00000427716	human	ensembl	70_37	+1	known	intronic	c.1903-2422	e14-2422	0.044	-	-	-	no_errors	FGD4	HGNC	ENSG00000139132	tier3	982	1	0.101626016260163	819	608	42.6068675543097	395	65	14.1304347826087
12	33196353	33196353	T	G	SNP	ENSG00000238911	ENST00000458854	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-1598	NULL	0.003	-	-	-	no_errors	AC026357.1	Clone_based_ensembl_gene	ENSG00000238911	tier3	891	0	0	1201	4	0.33167495854063	443	1	0.225225225225225
12	33774645	33774645	T	G	SNP	ENSG00000212475	ENST00000391173	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*45510	NULL	0.012	-	-	-	no_errors	U6	RFAM	ENSG00000212475	tier4	1496	0	0	2173	2	0.0919117647058824	519	0	0
12	33980597	33980597	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1475	0	0	2013	2	0.0992063492063492	732	0	0
12	34538390	34538390	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	265	0	0	135	126	48.2758620689655	176	26	12.8712871287129
12	34831633	34831633	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	385	0	0	537	2	0.371057513914657	335	0	0
12	34837224	34837224	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1082	0	0	1537	3	0.194678780012979	666	0	0
12	34837234	34837234	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1139	0	0	1623	3	0.18450184501845	733	0	0
12	34837247	34837247	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1174	0	0	1651	3	0.181378476420798	759	0	0
12	34851976	34851976	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	385	0	0	562	2	0.353982300884956	354	0	0
12	37920223	37920223	C	G	SNP	ENSG00000258368	ENST00000547456	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-49028	NULL	0.425	-	-	-	no_coding_region:pseudogene	RP11-125N22.2	Clone_based_vega_gene	ENSG00000258368	tier4	952	0	0	950	388	28.9985052316891	529	0	0
12	38034516	38034516	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	299	0	0	347	2	0.573065902578797	111	0	0
12	38074548	38074548	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	483	0	0	569	2	0.350262697022767	300	0	0
12	38084210	38084210	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	551	0	0	650	4	0.611620795107034	335	0	0
12	38115284	38115284	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	985	0	0	1325	4	0.300751879699248	507	3	0.588235294117647
12	38198402	38198402	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	659	0	0	906	2	0.220264317180617	454	2	0.43859649122807
12	39435109	39435109	C	T	SNP	ENSG00000257586	ENST00000548295	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44425	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-554L12.3	Clone_based_vega_gene	ENSG00000257586	tier3	1934	2	0.103305785123967	1377	1057	43.4086242299795	613	138	18.3266932270916
12	40212094	40212094	T	G	SNP	SLC2A13	ENST00000280871	human	ensembl	70_37	-1	known	intronic	c.1445+11811	e7+11811	0.001	-	-	-	no_errors	SLC2A13	HGNC	ENSG00000151229	tier3	808	0	0	960	2	0.207684319833853	385	0	0
12	41201843	41201843	C	A	SNP	CNTN1	ENST00000551295	human	ensembl	70_37	+1	known	intronic	c.1-100316	e1-100316	0.000	-	-	-	no_errors	CNTN1	HGNC	ENSG00000018236	tier3	960	0	0	1245	3	0.240192153722978	510	4	0.778210116731518
12	41556051	41556051	T	G	SNP	PDZRN4	ENST00000402685	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-26207	NULL	0.006	-	-	-	no_errors	PDZRN4	HGNC	ENSG00000165966	tier4	1006	0	0	1496	6	0.399201596806387	558	2	0.357142857142857
12	41672761	41672761	G	A	SNP	PDZRN4	ENST00000402685	human	ensembl	70_37	+1	known	intronic	c.843+84771	e3+84771	0.000	-	-	-	no_errors	PDZRN4	HGNC	ENSG00000165966	tier3	981	0	0	1294	3	0.23130300693909	515	1	0.193050193050193
12	43341858	43341858	C	A	SNP	ENSG00000257849	ENST00000553006	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18067	NULL	0.000	-	-	-	no_errors	RP11-547C5.1	Clone_based_vega_gene	ENSG00000257849	tier3	1241	1	0.080450522928399	1545	187	10.7905366416619	617	2	0.322061191626409
12	43688466	43688466	C	T	SNP	ENSG00000215993	ENST00000401174	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-3083	NULL	0.038	-	-	-	no_errors	AC079603.1	Clone_based_ensembl_gene	ENSG00000215993	tier3	863	1	0.115740740740741	667	542	44.7933884297521	433	90	17.208413001912
12	43872341	43872341	C	T	SNP	ADAMTS20	ENST00000389420	human	ensembl	70_37	-1	known	intronic	c.1118-9833	e8-9833	0.009	-	-	-	no_errors	ADAMTS20	HGNC	ENSG00000173157	tier4	1175	3	0.254452926208651	813	491	37.6533742331288	507	84	14.2131979695431
12	44198740	44198740	C	A	SNP	TWF1	ENST00000325127	human	ensembl	70_37	-1	known	intronic	c.128-365	e2-365	0.015	-	-	-	no_errors	TWF1	HGNC	ENSG00000151239	tier3	929	0	0	1269	1	0.078740157480315	471	6	1.25786163522013
12	45589954	45589954	T	G	SNP	PLEKHA8P1	ENST00000256692	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	PLEKHA8P1	HGNC	ENSG00000134297	tier3	1067	0	0	1489	2	0.134138162307176	452	2	0.43859649122807
12	46632541	46632541	A	G	SNP	SLC38A1	ENST00000398637	human	ensembl	70_37	-1	known	intronic	c.122+921	e1+921	0.068	-	-	-	no_errors	SLC38A1	HGNC	ENSG00000111371	tier3	472	0	0	606	2	0.328947368421053	219	0	0
12	47901986	47901986	A	C	SNP	ENSG00000258369	ENST00000549509	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*44582	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP1-90J4.2	Clone_based_vega_gene	ENSG00000258369	tier4	890	0	0	1384	7	0.50251256281407	398	7	1.72839506172839
12	49952686	49952686	G	A	SNP	MCRS1	ENST00000357123	human	ensembl	70_37	-1	known	silent	c.1281	p.I427	0.111	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	-	no_errors	MCRS1	HGNC	ENSG00000187778	tier1	147	0	0	224	4	1.75438596491228	120	0	0
12	49961604	49961604	T	G	SNP	MCRS1	ENST00000548334	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-1090	NULL	0.000	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	MCRS1	HGNC	ENSG00000187778	tier2	201	0	0	308	2	0.645161290322581	92	0	0
12	50234082	50234082	G	A	SNP	BCDIN3D-AS1	ENST00000548872	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	BCDIN3D-AS1	HGNC	ENSG00000258057	tier1	535	0	0	813	2	0.245098039215686	305	4	1.28617363344051
12	50547355	50547355	T	C	SNP	CERS5	ENST00000317551	human	ensembl	70_37	-1	known	intronic	c.198-9515	e2-9515	0.068	-	-	-	no_errors	CERS5	HGNC	ENSG00000139624	tier4	537	0	0	809	6	0.736196319018405	270	75	21.7391304347826
12	51241845	51241845	G	T	SNP	TMPRSS12	ENST00000398458	human	ensembl	70_37	+1	known	intronic	c.383+4025	e2+4025	1.000	-	-	-	no_errors	TMPRSS12	HGNC	ENSG00000186452	tier3	812	0	0	1227	4	0.32441200324412	446	4	0.888888888888889
12	51947319	51947319	T	G	SNP	SCN8A	ENST00000354534	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-109283	NULL	0.331	-	-	-	no_errors	SCN8A	HGNC	ENSG00000196876	tier4	345	0	0	463	2	0.429184549356223	187	0	0
12	52310871	52310871	T	G	SNP	ACVRL1	ENST00000550683	human	ensembl	70_37	+1	known	intronic	c.1288+854	e7+854	0.003	-	-	-	no_errors	ACVRL1	HGNC	ENSG00000139567	tier4	1155	0	0	1714	2	0.11648223645894	584	0	0
12	52536673	52536673	A	G	SNP	ENSG00000257989	ENST00000547538	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-38592	NULL	0.000	-	-	-	no_errors	RP1-288H2.2	Clone_based_vega_gene	ENSG00000257989	tier4	454	0	0	662	2	0.301204819277108	251	0	0
12	52577776	52577776	G	A	SNP	KRT80	ENST00000394815	human	ensembl	70_37	-1	known	intronic	c.509+1387	e2+1387	0.000	-	-	-	no_errors	KRT80	HGNC	ENSG00000167767	tier3	983	0	0	797	680	46.039268788084	388	89	18.5416666666667
12	53072530	53072530	A	G	SNP	KRT1	ENST00000252244	human	ensembl	70_37	-1	known	missense	c.602	p.L201P	1.000	pfam_F	pfam_F,superfamily_Prefoldin,prints_Keratin_II	-	no_errors	KRT1	HGNC	ENSG00000167768	tier1	250	0	0	210	0	0	231	13	5.33
12	54957980	54957980	C	T	SNP	PDE1B	ENST00000243052	human	ensembl	70_37	+1	known	intronic	c.114-2778	e2-2778	0.006	-	-	-	no_errors	PDE1B	HGNC	ENSG00000123360	tier3	1683	0	0	1694	804	32.1728691476591	734	1	0.136054421768707
12	55464159	55464159	A	C	SNP	OR9K1P	ENST00000326513	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45158	NULL	0.003	-	-	-	no_coding_region:pseudogene	OR9K1P	HGNC	ENSG00000196534	tier3	735	0	0	938	3	0.318809776833156	306	0	0
12	55745126	55745126	A	C	SNP	OR6C75	ENST00000343399	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13769	NULL	0.000	-	-	-	no_errors	OR6C75	HGNC	ENSG00000187857	tier3	420	0	0	587	2	0.33955857385399	221	4	1.77777777777778
12	57740300	57740300	A	T	SNP	R3HDM2	ENST00000347140	human	ensembl	70_37	-1	known	intronic	c.1-36054	e1-36054	0.007	-	-	-	no_errors	R3HDM2	HGNC	ENSG00000179912	tier4	1938	4	0.205973223480947	2049	872	29.8527901403629	910	2	0.219298245614035
12	57858524	57858524	C	A	SNP	GLI1	ENST00000228682	human	ensembl	70_37	+1	known	missense	c.262	p.L88M	1.000	NULL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	-	no_errors	GLI1	HGNC	ENSG00000111087	tier1	304	0	0	284	231	44.8543689320388	173	28	13.9303482587065
12	57858524	57858524	C	A	SNP	GLI1	ENST00000228682	human	ensembl	70_37	+1	known	missense	c.262	p.L88M	1.000	NULL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	-	no_errors	GLI1	HGNC	ENSG00000111087	tier1	525	0	0	424	345	44.8634590377113	358	69	16.1592505854801
12	57894044	57894044	A	G	SNP	MARS	ENST00000549827	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*57894044	NULL	0.000	-	-	-	no_coding_region	MARS	HGNC	ENSG00000166986	tier3	736	0	0	1260	2	0.158478605388273	348	2	0.571428571428571
12	57942451	57942451	T	C	SNP	KIF5A	ENST00000455537	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1604	NULL	0.989	-	-	-	no_errors	KIF5A	HGNC	ENSG00000155980	tier3	406	0	0	737	2	0.27063599458728	252	0	0
12	58656095	58656095	A	G	SNP	RPL21P103	ENST00000479921	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*17447	NULL	0.000	-	-	-	no_coding_region:pseudogene	RPL21P103	HGNC	ENSG00000241423	tier3	1061	0	0	1433	2	0.139372822299652	411	2	0.484261501210654
12	58733129	58733129	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	342	0	0	323	136	29.6296296296296	222	0	0
12	58857203	58857203	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	668	0	0	852	1	0.117233294255569	292	4	1.35135135135135
12	60555663	60555663	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1724	0	0	1107	900	44.8430493273543	730	96	11.5942028985507
12	61075020	61075020	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1527	0	0	1996	3	0.150075037518759	693	0	0
12	61424266	61424266	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	597	2	0.333889816360601	429	329	43.3465085638999	276	77	21.8130311614731
12	61603072	61603072	T	A	SNP	ENSG00000257308	ENST00000548612	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*21868	NULL	0.043	-	-	-	no_coding_region:pseudogene	RP11-471N19.1	Clone_based_vega_gene	ENSG00000257308	tier4	832	0	0	479	416	46.4804469273743	283	79	21.8232044198895
12	61806572	61806572	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1540	0	0	1866	2	0.107009095773141	662	0	0
12	63304216	63304216	A	G	SNP	PPM1H	ENST00000228705	human	ensembl	70_37	-1	known	intronic	c.245+24056	e1+24056	0.000	-	-	-	no_errors	PPM1H	HGNC	ENSG00000111110	tier3	1513	0	0	2206	7	0.31616982836495	594	2	0.335570469798658
12	63538418	63538418	T	G	SNP	ENSG00000257973	ENST00000547051	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6427	NULL	0.001	-	-	-	no_errors	RP11-715H19.2	Clone_based_vega_gene	ENSG00000257973	tier3	747	0	0	997	4	0.399201596806387	366	2	0.543478260869565
12	63655918	63655918	G	A	SNP	ENSG00000257332	ENST00000552536	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9266	NULL	0.091	-	-	-	no_coding_region:pseudogene	RP11-1022B3.2	Clone_based_vega_gene	ENSG00000257332	tier4	357	0	0	468	1	0.212765957446809	147	5	3.28947368421053
12	65628096	65628096	A	C	SNP	LEMD3	ENST00000308330	human	ensembl	70_37	+1	known	intronic	c.1696-4186	e5-4186	0.001	-	-	-	no_errors	LEMD3	HGNC	ENSG00000174106	tier4	1034	0	0	1464	2	0.136425648021828	425	2	0.468384074941452
12	66098659	66098659	A	T	SNP	ENSG00000256915	ENST00000540875	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*41580	NULL	0.027	-	-	-	no_errors	RP11-221N13.4	Clone_based_vega_gene	ENSG00000256915	tier4	967	0	0	1381	2	0.144613159797542	510	3	0.584795321637427
12	66132927	66132927	G	A	SNP	RPSAP52	ENST00000489520	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*18873	NULL	0.003	-	-	-	no_errors	RPSAP52	HGNC	ENSG00000241749	tier4	1668	2	0.119617224880383	2268	213	8.58524788391778	480	0	0
12	66391068	66391068	C	T	SNP	ENSG00000256083	ENST00000544279	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-48809	NULL	0.000	-	-	-	no_errors	RP11-366L20.3	Clone_based_vega_gene	ENSG00000256083	tier4	615	0	0	566	269	32.2155688622755	349	0	0
12	66684701	66684701	T	G	SNP	HELB	ENST00000247815	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11683	NULL	0.025	-	-	-	no_errors	HELB	HGNC	ENSG00000127311	tier3	1233	0	0	1904	2	0.104931794333683	639	0	0
12	67416064	67416064	T	G	SNP	ENSG00000256248	ENST00000535721	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-123O10.4	Clone_based_vega_gene	ENSG00000256248	tier4	1027	0	0	1390	3	0.215362526920316	573	0	0
12	70366201	70366201	T	G	SNP	ENSG00000257815	ENST00000549419	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-611E13.2	Clone_based_vega_gene	ENSG00000257815	tier4	742	0	0	1013	2	0.197044334975369	325	0	0
12	71090454	71090454	T	A	SNP	PTPRR	ENST00000283228	human	ensembl	70_37	-1	known	intronic	c.1279+1591	e8+1591	0.000	-	-	-	no_errors	PTPRR	HGNC	ENSG00000153233	tier4	956	1	0.104493207941484	712	604	45.8966565349544	362	112	23.6286919831224
12	72585292	72585292	A	G	SNP	TRHDE	ENST00000548156	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	TRHDE	HGNC	ENSG00000072657	tier3	1226	0	0	1631	2	0.122324159021407	570	0	0
12	72837518	72837518	G	A	SNP	TRHDE	ENST00000261180	human	ensembl	70_37	+1	known	intronic	c.1181-26020	e4-26020	0.001	-	-	-	no_errors	TRHDE	HGNC	ENSG00000072657	tier3	1121	0	0	684	622	47.5535168195719	482	87	15.2899824253076
12	73802563	73802563	T	A	SNP	ENSG00000258109	ENST00000549058	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.036	-	-	-	no_errors	RP11-314D7.4	Clone_based_vega_gene	ENSG00000258109	tier3	762	0	0	987	3	0.30241935483871	317	4	1.24610591900312
12	74284286	74284286	A	C	SNP	ENSG00000258109	ENST00000549058	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.052	-	-	-	no_errors	RP11-314D7.4	Clone_based_vega_gene	ENSG00000258109	tier3	1788	0	0	2315	2	0.086244070720138	759	0	0
12	74571698	74571698	T	G	SNP	LOC100507377	ENST00000549905	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	RP11-81H3.2	Clone_based_vega_gene	ENSG00000251138	tier4	1882	0	0	2438	5	0.204666393778142	660	0	0
12	75221487	75221487	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1064	0	0	746	462	38.2450331125828	438	63	12.5748502994012
12	75422717	75422717	G	T	SNP	ENSG00000257434	ENST00000547040	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-81K13.1	Clone_based_vega_gene	ENSG00000257434	tier3	849	0	0	1122	7	0.620017714791851	495	0	0
12	75441488	75441488	G	A	SNP	KCNC2	ENST00000549446	human	ensembl	70_37	-1	known	intronic	c.1780+445	e3+445	0.000	-	-	-	no_errors	KCNC2	HGNC	ENSG00000166006	tier3	1513	0	0	1168	879	42.919921875	564	107	15.946348733234
12	75801454	75801454	T	G	SNP	GLIPR1L2	ENST00000550916	human	ensembl	70_37	+1	known	intronic	c.235-2760	e2-2760	0.002	-	-	-	no_errors	GLIPR1L2	HGNC	ENSG00000180481	tier4	1007	0	0	1460	2	0.136798905608755	453	0	0
12	76074078	76074078	T	C	SNP	ENSG00000258077	ENST00000552856	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-114H23.1	Clone_based_vega_gene	ENSG00000258077	tier4	821	0	0	1250	4	0.318979266347687	366	1	0.272479564032698
12	77502410	77502410	C	G	SNP	E2F7	ENST00000322886	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-43995	NULL	0.002	-	-	-	no_errors	E2F7	HGNC	ENSG00000165891	tier3	1107	0	0	798	669	45.6032719836401	492	83	14.1638225255973
12	78427983	78427983	C	T	SNP	NAV3	ENST00000397909	human	ensembl	70_37	+1	known	intronic	c.2023+12341	e9+12341	0.000	-	-	-	no_errors	NAV3	HGNC	ENSG00000067798	tier4	1670	0	0	1238	995	44.5588893864756	608	143	18.9403973509934
12	79018423	79018423	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	935	0	0	1192	7	0.583819849874896	399	2	0.498753117206983
12	79211578	79211578	G	A	SNP	SYT1	ENST00000261205	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-399722	NULL	0.012	-	-	-	no_errors	SYT1	HGNC	ENSG00000067715	tier4	2050	3	0.14591439688716	2738	53	1.89760114572145	610	141	18.75
12	80127164	80127164	G	A	SNP	ENSG00000258048	ENST00000551995	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.326	-	-	-	no_errors	RP11-530C5.1	Clone_based_vega_gene	ENSG00000258048	tier4	839	0	0	1148	3	0.260416666666667	432	0	0
12	80403350	80403350	C	T	SNP	ENSG00000239473	ENST00000488396	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-19323	NULL	0.069	-	-	-	no_coding_region:pseudogene	RP1-170B16.1	Clone_based_vega_gene	ENSG00000239473	tier4	1763	0	0	2298	57	2.4203821656051	819	2	0.242718446601942
12	80863526	80863526	A	C	SNP	PTPRQ	ENST00000266688	human	ensembl	70_37	+1	known	intronic	c.1027+909	e12+909	0.000	-	-	-	no_errors	PTPRQ	HGNC	ENSG00000139304	tier3	670	0	0	962	2	0.20746887966805	348	1	0.284900284900285
12	81333899	81333899	G	C	SNP	ACSS3	ENST00000549175	human	ensembl	70_37	+1	putative	intronic	c.1+2202	e0+2202	0.003	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	ACSS3	HGNC	ENSG00000111058	tier3	1004	0	0	676	514	43.1570109151973	475	68	12.5230202578269
12	81809796	81809796	T	C	SNP	PPFIA2	ENST00000549396	human	ensembl	70_37	-1	known	intronic	c.646-10114	e6-10114	0.001	-	-	-	no_errors	PPFIA2	HGNC	ENSG00000139220	tier3	1414	0	0	1815	25	1.35869565217391	539	129	19.2537313432836
12	81877698	81877698	T	C	SNP	PPFIA2	ENST00000549396	human	ensembl	70_37	-1	known	intronic	c.304-26053	e3-26053	0.000	-	-	-	no_errors	PPFIA2	HGNC	ENSG00000139220	tier3	757	0	0	1002	3	0.297914597815293	372	0	0
12	82326459	82326459	A	T	SNP	ENSG00000257747	ENST00000550506	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21039	NULL	0.003	-	-	-	no_errors	RP11-362A1.1	Clone_based_vega_gene	ENSG00000257747	tier4	535	0	0	648	2	0.307692307692308	245	0	0
12	83726854	83726854	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1454	0	0	1356	505	27.1359484148307	679	0	0
12	83806017	83806017	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1799	0	0	1382	952	40.7708779443255	629	169	21.1779448621554
12	83880612	83880612	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	531	0	0	689	1	0.144927536231884	287	2	0.69204152249135
12	84558022	84558022	G	T	SNP	ENSG00000221148	ENST00000408221	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*19081	NULL	0.000	-	-	-	no_errors	SNORA3	RFAM	ENSG00000221148	tier4	805	0	0	1041	3	0.286806883365201	423	0	0
12	84588753	84588753	A	C	SNP	ENSG00000221148	ENST00000408221	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-11526	NULL	0.015	-	-	-	no_errors	SNORA3	RFAM	ENSG00000221148	tier4	824	0	0	1157	6	0.515907136715391	363	3	0.819672131147541
12	85625395	85625395	T	A	SNP	LRRIQ1	ENST00000393217	human	ensembl	70_37	+1	known	intronic	c.4956-1079	e25-1079	0.006	-	-	-	no_errors	LRRIQ1	HGNC	ENSG00000133640	tier4	1228	1	0.081366965012205	856	722	45.7251424952502	504	120	19.2307692307692
12	86122444	86122444	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	963	0	0	1366	4	0.291757840991977	395	0	0
12	86553122	86553122	A	C	SNP	MGAT4C	ENST00000550460	human	ensembl	70_37	-1	known	intronic	c.1-109621	e1-109621	0.042	-	-	-	no_errors	MGAT4C	HGNC	ENSG00000182050	tier4	1532	0	0	2027	2	0.098570724494825	573	1	0.174216027874564
12	88995346	88995346	A	C	SNP	KITLG	ENST00000228280	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-21291	NULL	0.009	-	-	-	no_errors	KITLG	HGNC	ENSG00000049130	tier4	877	0	0	1268	2	0.15748031496063	376	2	0.526315789473684
12	89417564	89417564	G	A	SNP	LOC728084	ENST00000500381	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4108	NULL	0.063	-	-	-	no_errors	RP11-13A1.1	Clone_based_vega_gene	ENSG00000246363	tier3	1554	0	0	1140	871	43.2687531048187	520	113	17.8515007898894
12	89425398	89425398	C	T	SNP	LOC728084	ENST00000500381	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11942	NULL	0.000	-	-	-	no_errors	RP11-13A1.1	Clone_based_vega_gene	ENSG00000246363	tier3	1320	0	0	922	654	41.4711477488903	437	102	18.9239332096475
12	90646940	90646940	T	G	SNP	ENSG00000258183	ENST00000548172	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40160	NULL	0.004	-	-	-	no_errors	RP11-753N8.1	Clone_based_vega_gene	ENSG00000258183	tier3	1243	0	0	1710	2	0.116822429906542	395	2	0.503778337531486
12	90823124	90823124	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	619	1	0.161290322580645	400	329	45.0684931506849	305	42	12.1037463976945
12	91560252	91560252	C	T	SNP	DCN	ENST00000052754	human	ensembl	70_37	-1	known	intronic	c.212-1758	e2-1758	0.235	-	-	-	no_errors	DCN	HGNC	ENSG00000011465	tier3	1140	1	0.0876424189307625	829	619	42.7486187845304	405	116	22.2648752399232
12	93696802	93696802	C	T	SNP	ENSG00000257512	ENST00000547118	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11783	NULL	0.000	-	-	-	no_errors	RP11-486A14.1	Clone_based_vega_gene	ENSG00000257512	tier3	1093	0	0	846	727	46.2174189446917	471	100	17.3310225303293
12	93743917	93743917	C	T	SNP	LOC643339	ENST00000548890	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	RP11-486A14.2	Clone_based_vega_gene	ENSG00000257252	tier3	960	0	0	758	654	46.3172804532578	455	82	15.2133580705009
12	94376237	94376237	A	C	SNP	ENSG00000257283	ENST00000550687	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38858	NULL	0.060	-	-	-	no_errors	RP11-1060G2.1	Clone_based_vega_gene	ENSG00000257283	tier2	867	0	0	1306	1	0.0764525993883792	361	2	0.546448087431694
12	95053304	95053304	G	A	SNP	TMCC3	ENST00000261226	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-9098	NULL	0.007	-	-	-	no_errors	TMCC3	HGNC	ENSG00000057704	tier3	827	0	0	605	494	44.9499545040946	384	91	19.1578947368421
12	96416471	96416471	A	C	SNP	LTA4H	ENST00000228740	human	ensembl	70_37	-1	known	intronic	c.481-442	e5-442	0.001	-	-	-	no_errors	LTA4H	HGNC	ENSG00000111144	tier4	748	0	0	1135	2	0.175592625109745	365	2	0.539083557951483
12	96672595	96672595	A	C	SNP	CDK17	ENST00000261211	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*1425	NULL	1.000	-	-	-	no_errors	CDK17	HGNC	ENSG00000059758	tier2	1572	0	0	2564	2	0.0778513040093422	622	2	0.320512820512821
12	98096594	98096594	T	G	SNP	RNU6-36	ENST00000384172	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18900	NULL	0.001	-	-	-	no_errors	RNU6-36	HGNC	ENSG00000206899	tier4	515	0	0	700	2	0.284900284900285	289	3	1.02739726027397
12	98858497	98858497	T	C	SNP	SLC9A7P1	ENST00000554295	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-7574	NULL	0.000	-	-	-	no_errors	SLC9A7P1	HGNC	ENSG00000227825	tier4	652	0	0	1103	2	0.180995475113122	284	1	0.350877192982456
12	99609080	99609080	T	C	SNP	ANKS1B	ENST00000329257	human	ensembl	70_37	-1	known	intronic	c.2419+29040	e14+29040	0.262	-	-	-	no_errors	ANKS1B	HGNC	ENSG00000185046	tier4	286	0	0	211	201	48.7864077669903	147	55	27.2277227722772
12	100760973	100760973	C	T	SNP	SLC17A8	ENST00000323346	human	ensembl	70_37	+1	known	intronic	c.101+9703	e1+9703	0.001	-	-	-	no_errors	SLC17A8	HGNC	ENSG00000179520	tier4	1158	1	0.0862812769628991	848	699	45.1258876694642	496	91	15.5025553662692
12	103139535	103139535	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1368	0	0	965	761	44.0393518518519	519	119	18.4782608695652
12	103520312	103520312	C	T	SNP	ENSG00000257703	ENST00000548415	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.024	-	-	-	no_errors	RP11-328J6.1	Clone_based_vega_gene	ENSG00000257703	tier4	986	2	0.202429149797571	646	497	43.4440559440559	390	121	23.495145631068
12	105103137	105103137	T	G	SNP	CHST11	ENST00000303694	human	ensembl	70_37	+1	known	intronic	c.205-47590	e3-47590	0.001	-	-	-	no_errors	CHST11	HGNC	ENSG00000171310	tier3	455	0	0	627	1	0.159235668789809	282	2	0.704225352112676
12	106257590	106257590	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1184	0	0	827	651	44.0460081190798	427	98	18.6311787072243
12	107177556	107177556	G	T	SNP	RIC8B	ENST00000392837	human	ensembl	70_37	+1	known	intronic	c.85-219	e2-219	0.000	-	-	-	no_errors	RIC8B	HGNC	ENSG00000111785	tier4	769	0	0	996	2	0.200400801603206	377	5	1.30208333333333
12	107718821	107718821	A	C	SNP	BTBD11	ENST00000280758	human	ensembl	70_37	+1	known	intronic	c.1135+4969	e1+4969	0.000	-	-	-	no_errors	BTBD11	HGNC	ENSG00000151136	tier4	987	0	0	1386	4	0.287769784172662	514	1	0.192678227360308
12	108284681	108284681	T	A	SNP	ENSG00000257398	ENST00000547452	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26937	NULL	0.002	-	-	-	no_errors	RP11-554D14.6	Clone_based_vega_gene	ENSG00000257398	tier3	1423	0	0	1791	2	0.111482720178372	534	0	0
12	110213583	110213583	T	C	SNP	FAM222A-AS1	ENST00000536474	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39821	NULL	0.002	-	-	-	no_errors	FAM222A-AS1	HGNC	ENSG00000255650	tier2	653	0	0	825	2	0.241254523522316	309	3	0.949367088607595
12	110994942	110994942	T	G	SNP	PPTC7	ENST00000354300	human	ensembl	70_37	-1	known	intronic	c.224-5169	e2-5169	0.000	-	-	-	no_errors	PPTC7	HGNC	ENSG00000196850	tier4	891	0	0	1487	2	0.134318334452653	530	0	0
12	111683011	111683011	A	G	SNP	CUX2	ENST00000261726	human	ensembl	70_37	+1	known	intronic	c.223-18554	e4-18554	0.004	-	-	-	no_errors	CUX2	HGNC	ENSG00000111249	tier3	869	0	0	1344	4	0.296515937731653	438	1	0.227790432801822
12	112078305	112078305	A	G	SNP	ATXN2	ENST00000377617	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40987	NULL	0.056	-	-	-	no_errors	ATXN2	HGNC	ENSG00000204842	tier3	528	1	0.189035916824197	500	440	46.8085106382979	284	77	21.0958904109589
12	112926379	112926379	C	T	SNP	PTPN11	ENST00000351677	human	ensembl	70_37	+1	known	intronic	c.1447+65	e12+65	0.000	-	-	-	no_errors	PTPN11	HGNC	ENSG00000179295	tier3	1272	0	0	1760	235	11.7794486215539	649	0	0
12	113016150	113016150	C	A	SNP	RPH3A	ENST00000543106	human	ensembl	70_37	+1	known	intronic	c.1+3027	e0+3027	0.000	-	-	-	no_errors	RPH3A	HGNC	ENSG00000089169	tier3	1215	1	0.0822368421052632	1860	1	0.0537056928034372	643	49	7.08092485549133
12	114865395	114865395	C	T	SNP	TBX5	ENST00000310346	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-23692	NULL	0.000	-	-	-	no_errors	TBX5	HGNC	ENSG00000089225	tier4	1008	0	0	1436	2	0.138985406532314	422	3	0.705882352941176
12	115693905	115693905	C	A	SNP	ENSG00000257519	ENST00000546696	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-7070	NULL	0.003	-	-	-	no_errors	RP11-116D17.2	Clone_based_vega_gene	ENSG00000257519	tier3	832	0	0	1016	2	0.196463654223969	441	1	0.226244343891403
12	116094710	116094710	T	G	SNP	ENSG00000257407	ENST00000551940	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17171	NULL	0.000	-	-	-	no_errors	RP11-1028N23.4	Clone_based_vega_gene	ENSG00000257407	tier4	1108	0	0	1487	3	0.201342281879195	423	0	0
12	116509991	116509991	A	C	SNP	MED13L	ENST00000281928	human	ensembl	70_37	-1	known	intronic	c.479+24483	e4+24483	0.002	-	-	-	no_errors	MED13L	HGNC	ENSG00000123066	tier3	736	0	0	940	3	0.317796610169492	316	1	0.315457413249211
12	116654711	116654711	A	C	SNP	MED13L	ENST00000281928	human	ensembl	70_37	-1	known	intronic	c.310+20562	e2+20562	0.002	-	-	-	no_errors	MED13L	HGNC	ENSG00000123066	tier3	987	0	0	1473	3	0.2031144211239	444	2	0.448430493273543
12	117758117	117758117	A	G	SNP	NOS1	ENST00000317775	human	ensembl	70_37	-1	known	intronic	c.726-8720	e2-8720	0.012	-	-	-	no_errors	NOS1	HGNC	ENSG00000089250	tier4	940	0	0	1219	164	11.841155234657	542	0	0
12	117882519	117882519	G	T	SNP	NOS1	ENST00000549189	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	NOS1	HGNC	ENSG00000089250	tier4	1006	0	0	1251	4	0.318725099601594	619	0	0
12	119606191	119606191	G	T	SNP	HSPB8	ENST00000281938	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-10927	NULL	0.002	-	-	-	no_errors	HSPB8	HGNC	ENSG00000152137	tier3	1239	0	0	843	623	42.4965893587995	398	85	17.5983436853002
12	119915214	119915214	T	C	SNP	CCDC60	ENST00000327554	human	ensembl	70_37	+1	known	intronic	c.342-1685	e4-1685	0.001	-	-	-	no_errors	CCDC60	HGNC	ENSG00000183273	tier3	1098	0	0	733	587	44.469696969697	457	110	19.4003527336861
12	120658549	120658549	T	C	SNP	PXN	ENST00000267257	human	ensembl	70_37	-1	known	intronic	c.831+877	e6+877	0.000	-	-	-	no_errors	PXN	HGNC	ENSG00000089159	tier3	431	0	0	338	299	46.9387755102041	184	58	23.9669421487603
12	121527839	121527839	T	G	SNP	P2RX7	ENST00000546057	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-42935	NULL	0.000	-	-	-	no_errors	P2RX7	HGNC	ENSG00000089041	tier3	1067	1	0.0936329588014981	887	676	43.2501599488164	486	116	19.2691029900332
12	121528423	121528423	T	G	SNP	P2RX7	ENST00000546057	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-42351	NULL	0.000	-	-	-	no_errors	P2RX7	HGNC	ENSG00000089041	tier3	628	0	0	934	4	0.426439232409382	352	1	0.278551532033426
12	123875490	123875490	G	T	SNP	SETD8	ENST00000462311	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*123875490	NULL	0.001	-	-	-	no_coding_region	SETD8	HGNC	ENSG00000183955	tier3	567	0	0	873	3	0.342465753424658	314	1	0.317460317460317
12	125206612	125206612	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	610	0	0	559	425	43.1472081218274	317	59	15.6914893617021
12	125668724	125668724	A	C	SNP	TMEM132B	ENST00000418253	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2658	NULL	0.000	-	-	-	no_errors	TMEM132B	HGNC	ENSG00000139364	tier3	749	0	0	1076	2	0.185528756957328	389	0	0
12	126642088	126642088	T	C	SNP	ENSG00000255778	ENST00000536505	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33836	NULL	0.001	-	-	-	no_errors	RP4-765H13.1	Clone_based_vega_gene	ENSG00000255778	tier3	483	0	0	627	2	0.317965023847377	206	2	0.961538461538462
12	126946109	126946109	G	C	SNP	ENSG00000214043	ENST00000397346	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP5-944M2.3	Clone_based_vega_gene	ENSG00000214043	tier3	1001	0	0	1451	2	0.13745704467354	445	0	0
12	127493994	127493994	G	A	SNP	ENSG00000249345	ENST00000512624	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-575F12.1	Clone_based_vega_gene	ENSG00000249345	tier3	1070	2	0.186046511627907	1145	111	8.83757961783439	513	0	0
12	128010139	128010139	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	683	0	0	878	37	4.04371584699454	376	0	0
12	128066038	128066038	C	A	SNP	ENSG00000255945	ENST00000535247	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-16675	NULL	0.003	-	-	-	no_errors	RP11-351O2.1	Clone_based_vega_gene	ENSG00000255945	tier4	2720	1	0.0367107195301028	3635	19	0.519551544982226	666	100	13.0548302872063
12	128182262	128182262	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1471	0	0	2051	26	1.2518054886856	533	113	17.4922600619195
12	130437055	130437055	G	A	SNP	TMEM132D	ENST00000422113	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49171	NULL	0.000	-	-	-	no_errors	TMEM132D	HGNC	ENSG00000151952	tier4	526	0	0	340	329	49.1778774289985	294	49	14.1210374639769
12	132483441	132483441	G	T	SNP	EP400	ENST00000333577	human	ensembl	70_37	+1	known	intronic	c.2935+3940	e12+3940	0.228	-	-	-	no_errors	EP400	HGNC	ENSG00000183495	tier4	463	0	0	647	4	0.614439324116743	249	2	0.796812749003984
12	132892565	132892565	T	G	SNP	GALNT9	ENST00000328957	human	ensembl	70_37	-1	known	intronic	c.238+12987	e1+12987	0.000	-	-	-	no_errors	GALNT9	HGNC	ENSG00000182870	tier3	226	0	0	353	3	0.842696629213483	151	2	1.30718954248366
13	19180946	19180946	A	G	SNP	ENSG00000230473	ENST00000456756	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-484H12.1	Clone_based_vega_gene	ENSG00000230473	tier4	70	0	0	102	3	2.85714285714286	26	0	0
13	19186863	19186863	T	C	SNP	ENSG00000230473	ENST00000456756	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.021	-	-	-	no_errors	RP11-484H12.1	Clone_based_vega_gene	ENSG00000230473	tier2	2086	0	0	2609	1	0.0382995021064726	777	10	1.26742712294043
13	19827606	19827606	T	C	SNP	PSPC1P1	ENST00000442352	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26034	NULL	0.197	-	-	-	no_coding_region:pseudogene	PSPC1P1	HGNC	ENSG00000227879	tier4	636	0	0	689	102	12.8950695322377	403	0	0
13	21717846	21717846	T	G	SNP	SAP18	ENST00000467636	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	SAP18	HGNC	ENSG00000150459	tier2	1088	0	0	1682	4	0.237247924080664	497	4	0.798403193612774
13	22949976	22949976	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1232	0	0	830	658	44.2204301075269	477	96	16.7539267015707
13	22956744	22956744	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	314	0	0	377	52	12.093023255814	196	0	0
13	22967814	22967814	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	747	0	0	548	481	46.7444120505345	252	55	17.9153094462541
13	24030664	24030664	T	G	SNP	SACS	ENST00000382292	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45286	NULL	0.259	-	-	-	no_errors	SACS	HGNC	ENSG00000151835	tier2	709	0	0	980	2	0.203458799593082	376	2	0.529100529100529
13	24385699	24385699	A	C	SNP	MIPEP	ENST00000382172	human	ensembl	70_37	-1	known	intronic	c.1654-1636	e15-1636	0.006	-	-	-	no_errors	MIPEP	HGNC	ENSG00000027001	tier4	799	0	0	1152	3	0.259291270527226	340	0	0
13	26097000	26097000	G	A	SNP	ATP8A2	ENST00000381655	human	ensembl	70_37	+1	known	intronic	c.222-7137	e3-7137	0.416	-	-	-	no_errors	ATP8A2	HGNC	ENSG00000132932	tier4	1223	1	0.0815660685154976	913	805	46.8568102444703	400	99	19.6428571428571
13	27773881	27773881	T	G	SNP	USP12	ENST00000282344	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28105	NULL	0.001	-	-	-	no_errors	USP12	HGNC	ENSG00000152484	tier2	493	0	0	662	2	0.301204819277108	234	1	0.425531914893617
13	28256904	28256904	C	A	SNP	POLR1D	ENST00000465887	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15357	NULL	0.402	-	-	-	no_errors	POLR1D	HGNC	ENSG00000186184	tier4	690	0	0	963	1	0.103626943005181	348	5	1.41643059490085
13	28375115	28375115	G	A	SNP	RNU6-73	ENST00000384600	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27785	NULL	0.000	-	-	-	no_errors	RNU6-73	HGNC	ENSG00000207330	tier2	888	0	0	1030	151	12.7857747671465	506	0	0
13	28428081	28428081	G	A	SNP	PDX1-AS1	ENST00000499662	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	PDX1-AS1	HGNC	ENSG00000247381	tier2	451	1	0.22075055187638	323	273	45.7286432160804	196	42	17.2131147540984
13	28592642	28592642	C	G	SNP	FLT3	ENST00000380982	human	ensembl	70_37	-1	known	missense	c.2503	p.D835H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	-	no_errors	FLT3	HGNC	ENSG00000122025	tier1	765	1	0.130548302872063	793	287	26.5494912118409	421	0	0
13	28592642	28592642	C	G	SNP	FLT3	ENST00000380982	human	ensembl	70_37	-1	known	missense	c.2503	p.D835H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	-	no_errors	FLT3	HGNC	ENSG00000122025	tier1	944	1	0.105820105820106	949	352	27.0353302611367	613	0	0
13	30247685	30247685	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	379	0	0	263	271	50.749063670412	160	45	21.9512195121951
13	30468512	30468512	G	C	SNP	UBL3	ENST00000380680	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44837	NULL	0.000	-	-	-	no_errors	UBL3	HGNC	ENSG00000122042	tier2	325	0	0	398	2	0.5	161	1	0.617283950617284
13	31140531	31140531	A	C	SNP	HMGB1	ENST00000405805	human	ensembl	70_37	-1	known	intronic	c.1+50277	e0+50277	0.000	-	-	-	no_errors	HMGB1	HGNC	ENSG00000189403	tier4	658	0	0	1012	2	0.19723865877712	380	0	0
13	31931662	31931662	G	C	SNP	B3GALTL	ENST00000343307	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*27857	NULL	0.000	-	-	-	no_errors	B3GALTL	HGNC	ENSG00000187676	tier2	1139	0	0	1424	2	0.140154169586545	519	1	0.191570881226054
13	32356777	32356777	G	A	SNP	RXFP2	ENST00000298386	human	ensembl	70_37	+1	known	intronic	c.858-36	e11-36	0.000	-	-	-	no_errors	RXFP2	HGNC	ENSG00000133105	tier2	745	0	0	619	565	47.7195945945946	327	62	15.9383033419023
13	33020250	33020250	A	C	SNP	N4BP2L2	ENST00000399396	human	ensembl	70_37	-1	known	intronic	c.411-1987	e6-1987	0.001	-	-	-	no_errors	N4BP2L2	HGNC	ENSG00000244754	tier2	889	0	0	1326	5	0.375657400450789	423	3	0.704225352112676
13	36140815	36140815	A	C	SNP	NBEA	ENST00000310336	human	ensembl	70_37	+1	known	intronic	c.6923-227	e45-227	0.000	-	-	-	no_errors	NBEA	HGNC	ENSG00000172915	tier4	829	0	0	1227	2	0.16273393002441	370	3	0.802139037433155
13	36515407	36515407	C	T	SNP	DCLK1	ENST00000360631	human	ensembl	70_37	-1	known	intronic	c.823+6088	e3+6088	0.000	-	-	-	no_errors	DCLK1	HGNC	ENSG00000133083	tier2	1370	0	0	1080	773	41.6936353829558	474	93	16.4021164021164
13	36990845	36990845	G	T	SNP	SPG20	ENST00000355182	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-80878	NULL	0.000	-	-	-	no_errors	SPG20	HGNC	ENSG00000133104	tier2	1104	0	0	1435	5	0.347222222222222	515	0	0
13	37706657	37706657	T	C	SNP	CSNK1A1L	ENST00000379800	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27264	NULL	0.008	-	-	-	no_errors	CSNK1A1L	HGNC	ENSG00000180138	tier4	841	0	0	1222	2	0.163398692810458	413	1	0.241545893719807
13	37775190	37775190	A	T	SNP	RN7SKP1	ENST00000365525	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34395	NULL	0.022	-	-	-	no_errors	RN7SKP1	HGNC	ENSG00000202395	tier4	799	0	0	1034	3	0.289296046287367	441	0	0
13	38596373	38596373	T	C	SNP	HSPD1P9	ENST00000420325	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27516	NULL	0.005	-	-	-	no_coding_region:pseudogene	HSPD1P9	HGNC	ENSG00000228036	tier4	445	0	0	688	3	0.433526011560694	205	1	0.485436893203883
13	39095873	39095873	T	C	SNP	ENSG00000236354	ENST00000414161	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*11607	NULL	0.018	-	-	-	no_errors	RP11-349O10.1	Clone_based_vega_gene	ENSG00000236354	tier2	874	0	0	751	336	30.9107635694572	468	0	0
13	39314143	39314143	G	T	SNP	FREM2	ENST00000280481	human	ensembl	70_37	+1	known	intronic	c.5264-24298	e3-24298	0.000	-	-	-	no_errors	FREM2	HGNC	ENSG00000150893	tier2	658	0	0	846	3	0.353356890459364	299	1	0.333333333333333
13	40252718	40252718	C	T	SNP	COG6	ENST00000455146	human	ensembl	70_37	+1	known	intronic	c.541-957	e6-957	0.000	-	-	-	no_errors	COG6	HGNC	ENSG00000133103	tier3	1254	0	0	1773	5	0.280898876404494	706	4	0.558659217877095
13	40914185	40914185	T	C	SNP	ENSG00000230058	ENST00000400432	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*3909	NULL	0.001	-	-	-	no_errors	RP11-172E9.2	Clone_based_vega_gene	ENSG00000230058	tier4	759	0	0	1079	2	0.185013876040703	332	1	0.3003003003003
13	43789920	43789920	T	C	SNP	ENOX1	ENST00000261488	human	ensembl	70_37	-1	known	intronic	c.1801-1663	e14-1663	0.000	-	-	-	no_errors	ENOX1	HGNC	ENSG00000120658	tier4	1110	0	0	1443	3	0.207325501036628	435	1	0.228310502283105
13	44770966	44770966	T	G	SNP	SMIM2-AS1	ENST00000437867	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	SMIM2-AS1	HGNC	ENSG00000227258	tier3	620	0	0	767	3	0.38961038961039	253	0	0
13	48113106	48113106	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	586	0	0	764	2	0.260756192959583	332	0	0
13	49716453	49716453	C	A	SNP	FNDC3A	ENST00000492622	human	ensembl	70_37	+1	known	intronic	c.820-3461	e7-3461	0.000	-	-	-	no_errors	FNDC3A	HGNC	ENSG00000102531	tier3	720	0	0	1021	2	0.195503421309873	379	0	0
13	51709992	51709992	C	G	SNP	LINC00371	ENST00000433280	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	LINC00371	HGNC	ENSG00000226792	tier3	1077	0	0	655	569	46.4489795918367	413	117	21.9924812030075
13	52728928	52728928	T	C	SNP	NEK3	ENST00000452082	human	ensembl	70_37	-1	known	intronic	c.181-620	e2-620	0.015	-	-	-	no_errors	NEK3	HGNC	ENSG00000136098	tier3	1004	0	0	1397	3	0.214285714285714	526	1	0.189035916824197
13	53786972	53786972	G	T	SNP	ENSG00000241613	ENST00000477850	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-45240	NULL	0.011	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000241613	tier3	862	0	0	1064	2	0.187441424554827	361	60	14.2517814726841
13	53878584	53878584	A	C	SNP	ENSG00000241613	ENST00000477850	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*46079	NULL	0.000	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000241613	tier3	1649	1	0.0605693519079346	2143	1	0.0465983224603914	571	52	8.32
13	53917798	53917798	T	G	SNP	ENSG00000220990	ENST00000408063	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*24182	NULL	0.000	-	-	-	no_errors	AL450423.1	Clone_based_ensembl_gene	ENSG00000220990	tier4	1193	0	0	1570	24	1.50470219435737	513	108	17.3913043478261
13	55955006	55955006	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1235	0	0	1361	186	12.0232708468003	652	0	0
13	57675598	57675598	T	G	SNP	PRR20B	ENST00000377930	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46411	NULL	0.009	-	-	-	no_errors	PRR20B	HGNC	ENSG00000204918	tier4	1230	0	0	1118	622	35.7471264367816	582	0	0
13	57868221	57868221	C	A	SNP	SLC25A5P4	ENST00000418448	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20652	NULL	0.000	-	-	-	no_coding_region:pseudogene	SLC25A5P4	HGNC	ENSG00000234421	tier3	1457	0	0	1761	4	0.226244343891403	607	0	0
13	58004400	58004400	A	G	SNP	RPL31P53	ENST00000457065	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38748	NULL	0.205	-	-	-	no_coding_region:pseudogene	RPL31P53	HGNC	ENSG00000225352	tier4	1790	1	0.0557724484104852	2241	11	0.488454706927176	773	8	1.01910828025478
13	58209216	58209216	A	C	SNP	PCDH17	ENST00000377918	human	ensembl	70_37	+1	known	missense	c.2536	p.T846P	1.000	NULL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	-	no_errors	PCDH17	HGNC	ENSG00000118946	tier1	685	0	0	913	2	0.218579234972678	313	0	0
13	58329671	58329671	C	A	SNP	PCDH17	ENST00000377918	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*30243	NULL	0.012	-	-	-	no_errors	PCDH17	HGNC	ENSG00000118946	tier3	1178	2	0.169491525423729	1642	2	0.121654501216545	543	13	2.33812949640288
13	58616328	58616328	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1001	0	0	1406	3	0.21291696238467	515	3	0.579150579150579
13	59381136	59381136	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1293	1	0.0772200772200772	871	727	45.4659161976235	497	88	15.042735042735
13	59822085	59822085	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1353	0	0	982	722	42.3460410557185	513	105	16.9902912621359
13	60327694	60327694	T	G	SNP	DIAPH3	ENST00000400324	human	ensembl	70_37	-1	known	intronic	c.3319+20629	e27+20629	0.001	-	-	-	no_errors	DIAPH3	HGNC	ENSG00000139734	tier3	603	0	0	797	4	0.499375780274657	283	5	1.73611111111111
13	60457273	60457273	A	G	SNP	DIAPH3	ENST00000400324	human	ensembl	70_37	-1	known	intronic	c.2368-3671	e21-3671	0.000	-	-	-	no_errors	DIAPH3	HGNC	ENSG00000139734	tier3	521	0	0	713	2	0.27972027972028	266	0	0
13	60890272	60890272	A	G	SNP	TARDBPP2	ENST00000448913	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40132	NULL	0.059	-	-	-	no_coding_region:pseudogene	TARDBPP2	HGNC	ENSG00000238213	tier4	2032	0	0	2776	5	0.179726815240834	595	0	0
13	61207578	61207578	G	C	SNP	RNA5SP31	ENST00000411144	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*19710	NULL	0.070	-	-	-	no_errors	RNA5SP31	HGNC	ENSG00000223076	tier4	1345	0	0	953	686	41.8547895057962	512	102	16.6123778501629
13	61447281	61447281	G	T	SNP	ENSG00000227510	ENST00000414201	human	ensembl	70_37	+1	putative	5_prime_flanking_region	c.-43895	NULL	0.028	-	-	-	no_errors	RP11-196P2.1	Clone_based_vega_gene	ENSG00000227510	tier4	1135	0	0	764	635	45.3895639742673	432	92	17.5572519083969
13	61991650	61991650	C	G	SNP	PCDH20	ENST00000409186	human	ensembl	70_37	-1	known	intronic	c.1-1633	e1-1633	0.000	-	-	-	no_errors	PCDH20	HGNC	ENSG00000197991	tier3	901	0	0	1135	1	0.0880281690140845	434	62	12.5
13	62669049	62669049	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	798	0	0	620	251	28.8174512055109	397	0	0
13	63029721	63029721	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	785	0	0	1065	4	0.373482726423903	341	1	0.292397660818713
13	63091508	63091508	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1050	0	0	1339	5	0.371747211895911	407	1	0.245098039215686
13	63310444	63310444	A	C	SNP	LINC00448	ENST00000438352	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3952	NULL	0.001	-	-	-	no_errors	LINC00448	HGNC	ENSG00000228669	tier3	726	0	0	963	2	0.207253886010363	327	0	0
13	64431021	64431021	A	C	SNP	ENSG00000219926	ENST00000450029	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-25036	NULL	0.000	-	-	-	no_errors	RP11-394A14.2	Clone_based_vega_gene	ENSG00000219926	tier4	807	0	0	989	4	0.40281973816717	318	0	0
13	64667178	64667178	G	T	SNP	LINC00355	ENST00000456627	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17034	NULL	0.000	-	-	-	no_errors	LINC00355	HGNC	ENSG00000227674	tier3	2479	0	0	3369	3	0.0889679715302491	835	2	0.237812128418549
13	64747750	64747750	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1272	0	0	1829	3	0.163755458515284	542	4	0.732600732600733
13	65324630	65324630	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	679	0	0	926	2	0.21551724137931	402	0	0
13	68223324	68223324	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1459	0	0	1972	2	0.101214574898785	587	0	0
13	69079300	69079300	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1349	0	0	1811	2	0.110314396028682	673	2	0.296296296296296
13	69314686	69314686	T	C	SNP	ENSG00000243671	ENST00000463259	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-46473	NULL	0.000	-	-	-	no_errors	Metazoa_SRP	RFAM	ENSG00000243671	tier3	961	0	0	646	499	43.542757417103	408	82	16.6666666666667
13	69560004	69560004	G	A	SNP	ZDHHC20P4	ENST00000411421	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*69560004	NULL	1.000	-	-	-	no_coding_region:pseudogene	ZDHHC20P4	HGNC	ENSG00000232380	tier2	1295	0	0	1202	497	29.2525014714538	596	6	0.996677740863787
13	70252374	70252374	G	C	SNP	KLHL1	ENST00000377844	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*23460	NULL	0.000	-	-	-	no_errors	KLHL1	HGNC	ENSG00000150361	tier3	1327	0	0	874	689	44.0255591054313	510	79	13.2328308207705
13	71533423	71533423	A	C	SNP	SOGA2P1	ENST00000446207	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*34836	NULL	0.998	-	-	-	no_coding_region:pseudogene	SOGA2P1	HGNC	ENSG00000226554	tier2	1088	0	0	1449	2	0.137741046831956	488	0	0
13	72957006	72957006	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	77	0	0	106	2	1.81818181818182	132	0	0
13	73281044	73281044	A	C	SNP	BORA	ENST00000390667	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22035	NULL	0.006	-	-	-	no_errors	BORA	HGNC	ENSG00000136122	tier4	450	0	0	711	2	0.280504908835905	268	0	0
13	73921768	73921768	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1020	0	0	711	632	47.0588235294118	396	90	18.5185185185185
13	75008848	75008848	G	T	SNP	LINC00381	ENST00000423629	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	LINC00381	HGNC	ENSG00000226240	tier3	1510	1	0.0661813368630046	1719	257	13.0060728744939	619	0	0
13	75131036	75131036	G	T	SNP	LINC00347	ENST00000594461	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	LINC00347	HGNC	ENSG00000236678	tier1	1012	0	0	779	375	32.4956672443674	461	0	0
13	76343336	76343336	A	T	SNP	LMO7	ENST00000357063	human	ensembl	70_37	+1	known	intronic	c.473+8162	e5+8162	0.013	-	-	-	no_errors	LMO7	HGNC	ENSG00000136153	tier3	2060	0	0	2781	2	0.0718648939992814	827	0	0
13	77253006	77253006	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	671	0	0	926	4	0.43010752688172	354	1	0.280898876404494
13	77290030	77290030	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	640	0	0	920	4	0.431034482758621	287	0	0
13	77524667	77524667	G	A	SNP	IRG1	ENST00000377462	human	ensembl	70_37	+1	known	intronic	c.13-1957	e2-1957	0.392	-	-	-	no_errors	IRG1	HGNC	ENSG00000102794	tier3	869	0	0	630	547	46.4740866610026	353	77	17.906976744186
13	79173211	79173211	A	C	SNP	POU4F1-AS1	ENST00000444769	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	POU4F1-AS1	HGNC	ENSG00000234377	tier3	1420	0	0	1925	4	0.207361327112494	608	0	0
13	80356003	80356003	C	T	SNP	ENSG00000229011	ENST00000457858	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22550	NULL	0.011	-	-	-	no_errors	RP11-276G3.1	Clone_based_vega_gene	ENSG00000229011	tier3	2122	0	0	1573	971	38.1532416502947	694	117	14.4266337854501
13	80378712	80378712	T	C	SNP	ENSG00000229011	ENST00000457858	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-276G3.1	Clone_based_vega_gene	ENSG00000229011	tier3	594	0	0	807	2	0.247218788627936	258	0	0
13	80446549	80446549	A	G	SNP	ENSG00000229175	ENST00000427918	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-172	NULL	0.001	-	-	-	no_errors	RP11-501G7.1	Clone_based_vega_gene	ENSG00000229175	tier4	1062	0	0	697	614	46.7631378522468	497	106	17.5206611570248
13	81682323	81682323	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1069	0	0	1461	3	0.204918032786885	476	1	0.208768267223382
13	83490730	83490730	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	724	1	0.137551581843191	509	408	44.3960826985854	306	81	20.9302325581395
13	85229430	85229430	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1271	0	0	1654	5	0.301386377335744	503	4	0.788954635108481
13	85313759	85313759	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	511	0	0	691	2	0.288184438040346	345	4	1.14613180515759
13	86260837	86260837	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	875	0	0	1212	2	0.164744645799012	365	0	0
13	86576950	86576950	C	G	SNP	MOB1AP1	ENST00000430903	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*33282	NULL	0.002	-	-	-	no_coding_region:pseudogene	MOB1AP1	HGNC	ENSG00000228241	tier4	514	0	0	734	3	0.407055630936228	267	0	0
13	87304165	87304165	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	962	0	0	1295	3	0.231124807395994	418	1	0.238663484486874
13	87436210	87436210	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	945	0	0	1263	5	0.394011032308905	357	1	0.279329608938547
13	87809691	87809691	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1128	0	0	1648	2	0.121138703815869	555	6	1.06571936056838
13	88187272	88187272	C	A	SNP	MIR4500HG	ENST00000436290	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	MIR4500HG	HGNC	ENSG00000228824	tier4	1643	0	0	2284	5	0.218245307725884	563	1	0.177304964539007
13	89702585	89702585	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1524	0	0	1987	2	0.100553041729512	765	2	0.260756192959583
13	90250496	90250496	G	A	SNP	LINC00353	ENST00000434117	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45853	NULL	0.013	-	-	-	no_errors	LINC00353	HGNC	ENSG00000236176	tier4	1294	0	0	845	679	44.5538057742782	443	87	16.2313432835821
13	91376977	91376977	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	249	0	0	300	2	0.657894736842105	148	3	1.98675496688742
13	92199203	92199203	G	T	SNP	GPC5	ENST00000377067	human	ensembl	70_37	+1	known	intronic	c.325+98027	e2+98027	0.001	-	-	-	no_errors	GPC5	HGNC	ENSG00000179399	tier4	1633	2	0.122249388753056	1461	586	28.5993167398731	677	0	0
13	92654333	92654333	G	T	SNP	GPC5	ENST00000377067	human	ensembl	70_37	+1	known	intronic	c.1401+94022	e6+94022	0.000	-	-	-	no_errors	GPC5	HGNC	ENSG00000179399	tier3	1234	0	0	1607	2	0.123915737298637	618	4	0.643086816720257
13	92871814	92871814	A	C	SNP	GPC5	ENST00000377067	human	ensembl	70_37	+1	known	intronic	c.1561+74572	e7+74572	0.005	-	-	-	no_errors	GPC5	HGNC	ENSG00000179399	tier4	955	0	0	1229	3	0.243111831442464	561	0	0
13	93214043	93214043	A	G	SNP	GPC5	ENST00000377067	human	ensembl	70_37	+1	known	intronic	c.1562-304492	e8-304492	0.000	-	-	-	no_errors	GPC5	HGNC	ENSG00000179399	tier3	1015	0	0	1326	2	0.150489089541008	508	0	0
13	93599999	93599999	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	763	0	0	612	304	33.1877729257642	385	0	0
13	93668025	93668025	G	A	SNP	ENSG00000232849	ENST00000443228	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40885	NULL	0.002	-	-	-	no_errors	RP11-632L2.1	Clone_based_vega_gene	ENSG00000232849	tier4	1389	0	0	1950	1	0.0511770726714432	582	72	11.0091743119266
13	93824695	93824695	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	921	0	0	655	481	42.2671353251318	346	65	15.7384987893462
13	94883618	94883618	T	G	SNP	GPC6	ENST00000377047	human	ensembl	70_37	+1	known	intronic	c.878-54985	e5-54985	0.001	-	-	-	no_errors	GPC6	HGNC	ENSG00000183098	tier3	1442	0	0	2009	3	0.149105367793241	647	0	0
13	95956552	95956552	T	A	SNP	ABCC4	ENST00000376887	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2984	NULL	0.000	-	-	-	no_errors	ABCC4	HGNC	ENSG00000125257	tier4	955	0	0	848	808	48.792270531401	361	70	16.2412993039443
13	96182041	96182041	C	T	SNP	CLDN10	ENST00000376873	human	ensembl	70_37	+1	known	intronic	c.215-30345	e2-30345	0.060	-	-	-	no_errors	CLDN10	HGNC	ENSG00000134873	tier3	1549	0	0	2436	3	0.122950819672131	775	0	0
13	97304263	97304263	T	C	SNP	HS6ST3	ENST00000376705	human	ensembl	70_37	+1	known	intronic	c.708-180481	e2-180481	0.000	-	-	-	no_errors	HS6ST3	HGNC	ENSG00000185352	tier3	1477	0	0	1662	235	12.3879810226674	606	0	0
13	97352700	97352700	C	G	SNP	HS6ST3	ENST00000376705	human	ensembl	70_37	+1	known	intronic	c.708-132044	e2-132044	0.006	-	-	-	no_errors	HS6ST3	HGNC	ENSG00000185352	tier4	473	0	0	321	292	47.557003257329	221	47	17.1532846715328
13	97891520	97891520	A	C	SNP	MBNL2	ENST00000376673	human	ensembl	70_37	+1	known	intronic	c.1+16735	e0+16735	0.001	-	-	-	no_errors	MBNL2	HGNC	ENSG00000139793	tier3	971	0	0	1289	3	0.232198142414861	466	0	0
13	98853108	98853108	T	G	SNP	FARP1	ENST00000376586	human	ensembl	70_37	+1	known	intronic	c.1-12366	e1-12366	0.000	-	-	-	no_errors	FARP1	HGNC	ENSG00000152767	tier3	1590	0	0	2315	2	0.0863185153215365	621	0	0
13	100785843	100785843	G	T	SNP	PCCA	ENST00000376285	human	ensembl	70_37	+1	known	intronic	c.301-21390	e5-21390	0.060	-	-	-	no_errors	PCCA	HGNC	ENSG00000175198	tier4	986	0	0	1414	2	0.141143260409315	575	2	0.345423143350604
13	101985502	101985502	G	C	SNP	NALCN	ENST00000251127	human	ensembl	70_37	-1	known	intronic	c.799+12115	e6+12115	0.000	-	-	-	no_errors	NALCN	HGNC	ENSG00000102452	tier3	665	1	0.149925037481259	440	416	48.4848484848485	324	59	15.4046997389034
13	102075646	102075646	T	G	SNP	NALCN	ENST00000251127	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24169	NULL	0.001	-	-	-	no_errors	NALCN	HGNC	ENSG00000102452	tier4	322	0	0	455	2	0.437636761487965	212	1	0.469483568075117
13	102156678	102156678	G	A	SNP	ITGBL1	ENST00000376180	human	ensembl	70_37	+1	known	intronic	c.316+50227	e2+50227	0.001	-	-	-	no_errors	ITGBL1	HGNC	ENSG00000198542	tier3	834	0	0	1090	2	0.182982616651418	392	0	0
13	102287556	102287556	A	G	SNP	ITGBL1	ENST00000376180	human	ensembl	70_37	+1	known	intronic	c.1015+36907	e7+36907	0.023	-	-	-	no_errors	ITGBL1	HGNC	ENSG00000198542	tier3	1072	0	0	678	609	47.2459270752521	462	80	14.760147601476
13	102671175	102671175	A	T	SNP	FGF14	ENST00000376131	human	ensembl	70_37	-1	known	intronic	c.209-143529	e2-143529	0.000	-	-	-	no_errors	FGF14	HGNC	ENSG00000102466	tier3	1102	0	0	1398	4	0.285306704707561	580	2	0.343642611683849
13	105595823	105595823	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1544	0	0	1817	2	0.10989010989011	621	3	0.480769230769231
13	106078738	106078738	A	G	SNP	DAOA	ENST00000375936	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39900	NULL	0.004	-	-	-	no_errors	DAOA	HGNC	ENSG00000182346	tier3	1463	0	0	1779	29	1.60398230088496	484	101	17.2649572649573
13	107097368	107097368	A	C	SNP	EFNB2	ENST00000245323	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*48020	NULL	0.000	-	-	-	no_errors	EFNB2	HGNC	ENSG00000125266	tier3	1027	0	0	1431	4	0.278551532033426	421	3	0.707547169811321
13	108776942	108776942	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	667	0	0	790	2	0.252525252525253	275	0	0
13	109103464	109103464	A	C	SNP	HCFC2P1	ENST00000392864	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-29110	NULL	0.000	-	-	-	no_coding_region:pseudogene	HCFC2P1	HGNC	ENSG00000232087	tier3	563	0	0	815	2	0.244798041615667	261	1	0.381679389312977
13	109428337	109428337	T	G	SNP	MYO16	ENST00000356711	human	ensembl	70_37	+1	known	intronic	c.442-9646	e4-9646	0.000	-	-	-	no_errors	MYO16	HGNC	ENSG00000041515	tier3	1014	0	0	1366	2	0.146198830409357	459	0	0
13	109470008	109470008	T	G	SNP	MYO16	ENST00000356711	human	ensembl	70_37	+1	known	intronic	c.802-2677	e7-2677	0.006	-	-	-	no_errors	MYO16	HGNC	ENSG00000041515	tier4	1327	0	0	1184	532	31.002331002331	706	0	0
13	109844202	109844202	T	C	SNP	MYO16	ENST00000356711	human	ensembl	70_37	+1	known	intronic	c.5349+12221	e33+12221	0.000	-	-	-	no_errors	MYO16	HGNC	ENSG00000041515	tier3	1979	0	0	2730	3	0.109769484083425	880	0	0
13	110222811	110222811	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	685	0	0	916	3	0.326441784548422	323	0	0
13	110521898	110521898	G	A	SNP	RN7SKP10	ENST00000364291	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45545	NULL	0.013	-	-	-	no_errors	RN7SKP10	HGNC	ENSG00000201161	tier3	226	0	0	291	4	1.35593220338983	122	2	1.61290322580645
13	110532619	110532619	T	G	SNP	RN7SKP10	ENST00000364291	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-34824	NULL	0.000	-	-	-	no_errors	RN7SKP10	HGNC	ENSG00000201161	tier4	471	0	0	653	1	0.152905198776758	203	3	1.45631067961165
13	111146580	111146580	C	G	SNP	COL4A2	ENST00000360467	human	ensembl	70_37	+1	known	intronic	c.3634+951	e38+951	0.000	-	-	-	no_errors	COL4A2	HGNC	ENSG00000134871	tier3	722	1	0.138312586445367	538	415	43.5466946484785	326	59	15.3246753246753
13	111472437	111472437	A	T	SNP	ENSG00000259831	ENST00000569854	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-7006	NULL	0.007	-	-	-	no_errors	RP11-120J20.4	Clone_based_vega_gene	ENSG00000259831	tier3	714	0	0	951	2	0.209863588667366	394	0	0
13	112696808	112696808	T	G	SNP	SOX1	ENST00000330949	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25165	NULL	0.000	-	-	-	no_errors	SOX1	HGNC	ENSG00000182968	tier3	1450	0	0	1857	6	0.322061191626409	589	0	0
14	19004187	19004187	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2312	0	0	3501	2	0.0570939194975735	1202	0	0
14	19008274	19008274	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	842	0	0	1250	2	0.159744408945687	513	2	0.388349514563107
14	19013370	19013370	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	309	0	0	379	2	0.5249343832021	71	0	0
14	19400628	19400628	T	G	SNP	ARHGAP42P5	ENST00000548856	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-19400628	NULL	0.998	-	-	-	no_coding_region:pseudogene	ARHGAP42P5	HGNC	ENSG00000258233	tier2	1141	0	0	1476	1	0.06765899864682	663	8	1.1887072808321
14	19940477	19940477	T	G	SNP	ENSG00000257931	ENST00000547399	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.141	-	-	-	no_errors	CTD-2311B13.7	Clone_based_vega_gene	ENSG00000257931	tier4	1982	0	0	2493	2	0.0801603206412826	1260	0	0
14	22145985	22145985	T	A	SNP	OR10G2	ENST00000542433	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42987	NULL	0.179	-	-	-	no_errors	OR10G2	HGNC	ENSG00000255582	tier4	628	0	0	896	29	3.13513513513514	380	0	0
14	24193021	24193021	C	T	SNP	BRD7P1	ENST00000557705	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25424	NULL	0.003	-	-	-	no_coding_region:pseudogene	BRD7P1	HGNC	ENSG00000259043	tier2	1180	2	0.169204737732657	851	712	45.5534229046705	450	88	16.2962962962963
14	24568611	24568611	T	C	SNP	PCK2	ENST00000216780	human	ensembl	70_37	+1	known	intronic	c.853-156	e6-156	0.000	-	-	-	no_errors	PCK2	HGNC	ENSG00000100889	tier2	444	0	0	719	2	0.277008310249307	227	0	0
14	25847400	25847400	G	A	SNP	OR7K1P	ENST00000546439	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*19505	NULL	0.000	-	-	-	no_coding_region:pseudogene	OR7K1P	HGNC	ENSG00000258275	tier2	1429	0	0	999	673	40.2511961722488	525	105	16.6666666666667
14	26177641	26177641	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	991	0	0	1202	3	0.24896265560166	486	0	0
14	29447974	29447974	C	T	SNP	ENSG00000258028	ENST00000551227	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-148E17.1	Clone_based_vega_gene	ENSG00000258028	tier4	1278	4	0.311769290724864	969	646	39.9505256648114	503	82	13.8747884940778
14	29685238	29685238	G	T	SNP	ENSG00000257522	ENST00000550975	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*48812	NULL	1.000	-	-	-	no_errors	RP11-562L8.1	Clone_based_vega_gene	ENSG00000257522	tier2	907	1	0.11001100110011	653	503	43.5121107266436	421	97	18.7258687258687
14	29776785	29776785	A	C	SNP	ENSG00000257522	ENST00000548306	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP11-562L8.1	Clone_based_vega_gene	ENSG00000257522	tier4	852	0	0	1178	4	0.338409475465313	429	1	0.232558139534884
14	29824947	29824947	A	G	SNP	ENSG00000257522	ENST00000548306	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.998	-	-	-	no_errors	RP11-562L8.1	Clone_based_vega_gene	ENSG00000257522	tier2	1505	0	0	2012	1	0.0496770988574267	569	5	0.871080139372822
14	30140381	30140381	C	A	SNP	PRKD1	ENST00000331968	human	ensembl	70_37	-1	known	intronic	c.404-4967	e3-4967	0.001	-	-	-	no_errors	PRKD1	HGNC	ENSG00000184304	tier4	1507	0	0	1862	2	0.107296137339056	718	4	0.552486187845304
14	32171061	32171061	C	T	SNP	NUBPL	ENST00000281081	human	ensembl	70_37	+1	known	intronic	c.513+28281	e6+28281	0.017	-	-	-	no_errors	NUBPL	HGNC	ENSG00000151413	tier2	1056	0	0	755	468	38.2665576451349	497	85	14.6048109965636
14	32236833	32236833	G	T	SNP	NUBPL	ENST00000281081	human	ensembl	70_37	+1	known	intronic	c.514-20153	e7-20153	0.154	-	-	-	no_errors	NUBPL	HGNC	ENSG00000151413	tier4	1040	0	0	1298	1	0.0769230769230769	577	8	1.36286201022147
14	32713922	32713922	T	G	SNP	RNU6-41	ENST00000365467	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41447	NULL	0.480	-	-	-	no_errors	RNU6-41	HGNC	ENSG00000202337	tier4	1007	0	0	1271	4	0.313725490196078	440	1	0.226757369614512
14	34854089	34854089	T	C	SNP	EGLN3	ENST00000551935	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	EGLN3	HGNC	ENSG00000129521	tier2	446	0	0	342	265	43.6573311367381	235	49	17.2535211267606
14	37355569	37355569	G	A	SNP	SLC25A21	ENST00000331299	human	ensembl	70_37	-1	known	intronic	c.71-11360	e2-11360	0.001	-	-	-	no_errors	SLC25A21	HGNC	ENSG00000183032	tier2	1364	2	0.146412884333821	1141	481	29.6547472256473	609	4	0.65252854812398
14	39524085	39524085	T	C	SNP	SEC23A	ENST00000307712	human	ensembl	70_37	-1	known	intronic	c.1659+262	e13+262	0.000	-	-	-	no_errors	SEC23A	HGNC	ENSG00000100934	tier4	985	0	0	1493	4	0.267201068804275	507	0	0
14	40331625	40331625	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	873	0	0	1071	2	0.185873605947955	371	2	0.536193029490617
14	41035382	41035382	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	646	0	0	811	2	0.2460024600246	389	6	1.51898734177215
14	41828918	41828918	A	C	SNP	ENSG00000221695	ENST00000408768	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*10348	NULL	0.000	-	-	-	no_errors	AL390335.1	Clone_based_ensembl_gene	ENSG00000221695	tier2	563	0	0	687	5	0.722543352601156	303	0	0
14	43215721	43215721	T	G	SNP	ENSG00000258394	ENST00000557251	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42863	NULL	0.822	-	-	-	no_errors	CTD-2307P3.1	Clone_based_vega_gene	ENSG00000258394	tier2	1254	0	0	1692	4	0.235710076605775	521	0	0
14	43693753	43693753	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1494	0	0	1932	2	0.103359173126615	602	2	0.33003300330033
14	43743205	43743205	T	G	SNP	ENSG00000258406	ENST00000554689	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-822	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-88E18.1	Clone_based_vega_gene	ENSG00000258406	tier2	934	0	0	1080	4	0.3690036900369	381	0	0
14	44066043	44066043	T	G	SNP	ENSG00000258387	ENST00000554342	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4578	NULL	0.002	-	-	-	no_coding_region:pseudogene	RP11-557C9.3	Clone_based_vega_gene	ENSG00000258387	tier3	1118	0	0	1434	3	0.208623087621697	514	0	0
14	45557164	45557164	G	A	SNP	PRPF39	ENST00000355765	human	ensembl	70_37	+1	known	intronic	c.1+3712	e0+3712	0.007	-	-	-	no_errors	PRPF39	HGNC	ENSG00000185246	tier3	1527	0	0	1882	266	12.3836126629423	644	0	0
14	45742631	45742631	C	T	SNP	MIS18BP1	ENST00000310806	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26142	NULL	0.944	-	-	-	no_errors	MIS18BP1	HGNC	ENSG00000129534	tier4	943	0	0	1436	23	1.57642220699109	567	0	0
14	46677235	46677235	A	G	SNP	LOC100506412	ENST00000555246	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-1A16.1	Clone_based_vega_gene	ENSG00000258700	tier4	1132	0	0	1554	2	0.12853470437018	531	0	0
14	47311961	47311961	A	G	SNP	MDGA2	ENST00000399232	human	ensembl	70_37	-1	known	intronic	c.2990-739	e17-739	0.000	-	-	-	no_errors	MDGA2	HGNC	ENSG00000139915	tier3	1025	0	0	1458	2	0.136892539356605	450	0	0
14	48448335	48448335	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1303	0	0	1083	437	28.75	694	0	0
14	48771205	48771205	G	T	SNP	ENSG00000207366	ENST00000384636	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*39224	NULL	0.000	-	-	-	no_errors	U6	RFAM	ENSG00000207366	tier3	1342	0	0	1909	2	0.10465724751439	634	6	0.9375
14	48891700	48891700	T	C	SNP	ENSG00000258751	ENST00000555693	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.092	-	-	-	no_errors	RP11-2G1.1	Clone_based_vega_gene	ENSG00000258751	tier3	1204	0	0	1613	21	1.28518971848225	430	107	19.9255121042831
14	49781804	49781804	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1379	0	0	963	791	45.096921322691	501	118	19.0630048465267
14	50556831	50556831	T	G	SNP	C14orf183	ENST00000305273	human	ensembl	70_37	-1	novel	intronic	c.373-918	e3-918	0.002	-	-	-	no_errors	C14orf183	HGNC	ENSG00000168260	tier4	1302	0	0	2055	2	0.0972289742343218	618	0	0
14	51380815	51380815	T	C	SNP	PYGL	ENST00000216392	human	ensembl	70_37	-1	known	intronic	c.1518+604	e12+604	0.001	-	-	-	no_errors	PYGL	HGNC	ENSG00000100504	tier3	1303	0	0	1080	778	41.8729817007535	471	116	19.7614991482112
14	51579590	51579590	C	A	SNP	TRIM9	ENST00000338969	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17933	NULL	0.012	-	-	-	no_errors	TRIM9	HGNC	ENSG00000100505	tier3	618	0	0	858	2	0.231749710312862	263	2	0.754716981132075
14	52273988	52273988	A	G	SNP	ENSG00000258535	ENST00000553312	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-280K24.4	Clone_based_vega_gene	ENSG00000258535	tier3	792	0	0	1096	2	0.182149362477231	376	1	0.26525198938992
14	54021113	54021113	A	G	SNP	ENSG00000237356	ENST00000456100	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.029	-	-	-	no_errors	AL163953.3	Clone_based_vega_gene	ENSG00000237356	tier3	953	0	0	1287	3	0.232558139534884	369	3	0.806451612903226
14	54682900	54682900	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1022	0	0	1377	4	0.289645184648805	450	1	0.221729490022173
14	55122608	55122608	T	G	SNP	SAMD4A	ENST00000392067	human	ensembl	70_37	+1	known	intronic	c.197-46172	e2-46172	0.107	-	-	-	no_errors	SAMD4A	HGNC	ENSG00000020577	tier4	1790	0	0	2727	2	0.0732869182850861	804	0	0
14	55333565	55333565	T	G	SNP	GCH1	ENST00000395514	human	ensembl	70_37	-1	known	intronic	c.344-1411	e2-1411	0.001	-	-	-	no_errors	GCH1	HGNC	ENSG00000131979	tier3	850	0	0	1272	3	0.235294117647059	404	0	0
14	56763165	56763165	A	G	SNP	PELI2	ENST00000267460	human	ensembl	70_37	+1	known	intronic	c.697-153	e6-153	0.002	-	-	-	no_errors	PELI2	HGNC	ENSG00000139946	tier4	679	0	0	887	3	0.337078651685393	286	2	0.694444444444444
14	56866826	56866826	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1246	0	0	888	731	45.1234567901235	505	88	14.7651006711409
14	57168342	57168342	C	A	SNP	ENSG00000259133	ENST00000554597	human	ensembl	70_37	-1	putative	intronic	c.123+24266	e2+24266	0.000	-	-	-	no_errors	RP11-1085N6.3	Clone_based_vega_gene	ENSG00000259133	tier4	867	0	0	1086	2	0.183823529411765	399	5	1.22549019607843
14	57414742	57414742	T	G	SNP	OTX2-AS1	ENST00000554725	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.008	-	-	-	no_errors	OTX2-AS1	HGNC	ENSG00000248550	tier4	839	0	0	1173	2	0.170212765957447	355	0	0
14	57619930	57619930	C	A	SNP	ENSG00000258592	ENST00000551408	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40552	NULL	0.021	-	-	-	no_errors	RP11-108M12.3	Clone_based_vega_gene	ENSG00000258592	tier4	2221	2	0.0899685110211426	1748	1269	42.0477137176938	833	178	17.5715695952616
14	58559300	58559300	T	G	SNP	C14orf37	ENST00000267485	human	ensembl	70_37	-1	known	intronic	c.2089+4142	e4+4142	0.001	-	-	-	no_errors	C14orf37	HGNC	ENSG00000139971	tier4	442	0	0	650	2	0.306748466257669	312	3	0.952380952380952
14	59270995	59270995	T	C	SNP	ENSG00000258583	ENST00000553762	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23957	NULL	0.000	-	-	-	no_errors	RP11-112J1.2	Clone_based_vega_gene	ENSG00000258583	tier3	571	0	0	813	4	0.488997555012225	283	1	0.352112676056338
14	59842637	59842637	T	A	SNP	ENSG00000252869	ENST00000517060	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-24104	NULL	0.000	-	-	-	no_errors	AL159140.1	Clone_based_ensembl_gene	ENSG00000252869	tier4	838	0	0	1164	2	0.171526586620926	415	1	0.239808153477218
14	60214552	60214552	C	A	SNP	RTN1	ENST00000267484	human	ensembl	70_37	-1	known	intronic	c.242-1353	e2-1353	0.029	-	-	-	no_errors	RTN1	HGNC	ENSG00000139970	tier4	1227	0	0	1473	7	0.472972972972973	525	0	0
14	61959253	61959253	G	A	SNP	PRKCH	ENST00000332981	human	ensembl	70_37	+1	known	intronic	c.1433+6879	e10+6879	0.094	-	-	-	no_errors	PRKCH	HGNC	ENSG00000027075	tier3	775	0	0	1117	2	0.178571428571429	416	0	0
14	62468151	62468151	G	T	SNP	SYT16	ENST00000446982	human	ensembl	70_37	+1	known	intronic	c.523+4891	e1+4891	0.000	-	-	-	no_errors	SYT16	HGNC	ENSG00000139973	tier4	1036	0	0	1412	3	0.211864406779661	454	0	0
14	62812996	62812996	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1263	0	0	1659	2	0.120409391932571	473	0	0
14	62950093	62950093	G	A	SNP	ENSG00000258638	ENST00000554127	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*31497	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-395B20.2	Clone_based_vega_gene	ENSG00000258638	tier3	711	1	0.140252454417952	610	253	29.3163383545771	461	0	0
14	63224519	63224519	A	G	SNP	KCNH5	ENST00000322893	human	ensembl	70_37	-1	known	intronic	c.2019+21927	e10+21927	0.212	-	-	-	no_errors	KCNH5	HGNC	ENSG00000140015	tier4	1446	0	0	1936	2	0.103092783505155	663	2	0.299850074962519
14	63571563	63571563	G	T	SNP	KCNH5	ENST00000394968	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-87992	NULL	0.000	-	-	-	no_errors	KCNH5	HGNC	ENSG00000140015	tier4	1123	1	0.0889679715302491	650	563	46.4138499587799	371	69	15.6818181818182
14	64233827	64233827	A	T	SNP	SGPP1	ENST00000247225	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39165	NULL	0.000	-	-	-	no_errors	SGPP1	HGNC	ENSG00000126821	tier4	726	0	0	1143	5	0.435161009573542	379	6	1.55844155844156
14	65153966	65153966	C	A	SNP	PLEKHG3	ENST00000394691	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40384	NULL	0.002	-	-	-	no_errors	PLEKHG3	HGNC	ENSG00000126822	tier4	1161	0	0	1787	6	0.334075723830735	433	4	0.91533180778032
14	66837117	66837117	T	G	SNP	ENSG00000258561	ENST00000556361	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.037	-	-	-	no_errors	RP11-72M17.1	Clone_based_vega_gene	ENSG00000258561	tier4	476	0	0	593	2	0.336134453781513	277	1	0.355871886120996
14	67030470	67030470	T	G	SNP	GPHN	ENST00000478722	human	ensembl	70_37	+1	known	intronic	c.64+55161	e1+55161	0.001	-	-	-	no_errors	GPHN	HGNC	ENSG00000171723	tier4	1042	0	0	1449	2	0.137835975189524	456	0	0
14	68456999	68456999	A	C	SNP	RAD51B	ENST00000487270	human	ensembl	70_37	+1	known	intronic	c.756+103078	e6+103078	0.015	-	-	-	no_errors	RAD51B	HGNC	ENSG00000182185	tier4	1113	0	0	1549	2	0.128865979381443	520	0	0
14	69242914	69242914	T	C	SNP	ENSG00000207089	ENST00000384361	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-40169	NULL	0.069	-	-	-	no_errors	U6	RFAM	ENSG00000207089	tier3	842	1	0.118623962040332	664	577	46.4573268921095	391	56	12.5279642058166
14	70036001	70036001	G	A	SNP	KIAA0247	ENST00000342745	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-89309	NULL	0.407	-	-	-	no_errors	KIAA0247	HGNC	ENSG00000100647	tier4	1033	0	0	831	630	43.0916552667579	481	113	19.023569023569
14	70803055	70803055	A	G	SNP	COX16	ENST00000389912	human	ensembl	70_37	-1	known	intronic	c.141+6320	e2+6320	0.043	-	-	-	no_errors	COX16	HGNC	ENSG00000133983	tier4	1205	0	0	1534	5	0.324675324675325	584	4	0.680272108843537
14	71670841	71670841	G	C	SNP	ENSG00000257692	ENST00000549386	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP1-292L20.1	Clone_based_vega_gene	ENSG00000257692	tier3	925	0	0	1341	3	0.222882615156018	462	2	0.431034482758621
14	71798668	71798668	C	G	SNP	SIPA1L1	ENST00000553453	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	SIPA1L1	HGNC	ENSG00000197555	tier3	1352	0	0	2041	2	0.0978473581213307	611	2	0.32520325203252
14	72100766	72100766	C	A	SNP	SIPA1L1	ENST00000555818	human	ensembl	70_37	+1	known	intronic	c.1818+9813	e3+9813	0.516	-	-	-	no_errors	SIPA1L1	HGNC	ENSG00000197555	tier4	960	0	0	1361	3	0.219941348973607	434	0	0
14	72867908	72867908	C	A	SNP	RGS6	ENST00000553525	human	ensembl	70_37	+1	known	intronic	c.184+49006	e2+49006	0.806	-	-	-	no_errors	RGS6	HGNC	ENSG00000182732	tier3	1050	0	0	1500	5	0.332225913621262	458	4	0.865800865800866
14	73014397	73014397	T	G	SNP	RGS6	ENST00000553525	human	ensembl	70_37	+1	known	intronic	c.1422+7595	e16+7595	0.001	-	-	-	no_errors	RGS6	HGNC	ENSG00000182732	tier3	524	0	0	658	3	0.453857791225416	247	0	0
14	73225651	73225651	G	A	SNP	DPF3	ENST00000366353	human	ensembl	70_37	-1	known	intronic	c.359-5572	e3-5572	0.993	-	-	-	no_errors	DPF3	HGNC	ENSG00000205683	tier4	1311	0	0	1093	825	42.96875	535	112	17.3106646058733
14	74768892	74768892	G	T	SNP	ABCD4	ENST00000356924	human	ensembl	70_37	-1	known	intronic	c.38+686	e1+686	0.058	-	-	-	no_errors	ABCD4	HGNC	ENSG00000119688	tier4	719	0	0	1072	3	0.27906976744186	344	5	1.43266475644699
14	75549421	75549421	A	C	SNP	NEK9	ENST00000555405	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-75549421	NULL	0.001	-	-	-	no_coding_region	NEK9	HGNC	ENSG00000119638	tier3	410	0	0	630	2	0.316455696202532	266	0	0
14	77231914	77231914	G	A	SNP	VASH1	ENST00000167106	human	ensembl	70_37	+1	known	intronic	c.309+2441	e1+2441	0.000	-	-	-	no_errors	VASH1	HGNC	ENSG00000071246	tier3	341	0	0	236	174	42.3357664233577	183	13	6.56565656565657
14	79420810	79420810	T	A	SNP	NRXN3	ENST00000554738	human	ensembl	70_37	+1	known	intronic	c.2243-2775	e9-2775	0.002	-	-	-	no_errors	NRXN3	HGNC	ENSG00000021645	tier3	1125	0	0	799	728	47.6439790575916	438	114	20.5776173285199
14	79444185	79444185	G	T	SNP	NRXN3	ENST00000554738	human	ensembl	70_37	+1	known	intronic	c.3109+9496	e12+9496	0.006	-	-	-	no_errors	NRXN3	HGNC	ENSG00000021645	tier4	1594	0	0	2084	5	0.239348970799426	608	2	0.325732899022801
14	79650343	79650343	G	C	SNP	NRXN3	ENST00000554738	human	ensembl	70_37	+1	known	intronic	c.3229+195859	e13+195859	0.000	-	-	-	no_errors	NRXN3	HGNC	ENSG00000021645	tier3	690	0	0	931	2	0.214362272240086	346	0	0
14	80440160	80440160	T	G	SNP	ENSG00000258416	ENST00000554307	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-526N18.1	Clone_based_vega_gene	ENSG00000258416	tier4	1433	0	0	1909	4	0.209095661265029	651	5	0.762195121951219
14	81209424	81209424	T	C	SNP	CEP128	ENST00000281129	human	ensembl	70_37	-1	known	missense	c.2801	p.K934R	1.000	NULL	NULL	-	no_errors	CEP128	HGNC	ENSG00000100629	tier1	739	0	0	511	376	42.3900789177001	371	60	13.9211136890951
14	81209424	81209424	T	C	SNP	CEP128	ENST00000281129	human	ensembl	70_37	-1	known	missense	c.2801	p.K934R	1.000	NULL	NULL	-	no_errors	CEP128	HGNC	ENSG00000100629	tier1	984	2	0.202839756592292	633	468	42.5068119891008	567	105	15.625
14	82052044	82052044	A	C	SNP	ENSG00000258977	ENST00000554211	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*19647	NULL	0.005	-	-	-	no_errors	RP11-799P8.1	Clone_based_vega_gene	ENSG00000258977	tier4	623	0	0	697	3	0.428571428571429	240	2	0.826446280991736
14	82544804	82544804	T	G	SNP	ENSG00000259035	ENST00000554814	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*48111	NULL	0.000	-	-	-	no_errors	RP11-666E17.1	Clone_based_vega_gene	ENSG00000259035	tier4	556	0	0	736	2	0.2710027100271	287	5	1.71232876712329
14	83538891	83538891	G	A	SNP	ENSG00000258426	ENST00000557709	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-32945	NULL	0.001	-	-	-	no_errors	RP11-452D21.1	Clone_based_vega_gene	ENSG00000258426	tier3	711	1	0.140056022408964	830	21	2.46189917936694	324	46	12.4324324324324
14	84822990	84822990	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1507	0	0	1847	32	1.70303352847259	694	0	0
14	85081508	85081508	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	872	0	0	607	433	41.6346153846154	347	90	20.5949656750572
14	85752128	85752128	G	A	SNP	ENSG00000259044	ENST00000556016	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-46310	NULL	0.724	-	-	-	no_errors	RP11-789A21.1	Clone_based_vega_gene	ENSG00000259044	tier3	953	0	0	603	517	46.1607142857143	373	82	17.9431072210066
14	85994787	85994787	A	C	SNP	LOC100506731	ENST00000380722	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-497E19.1	Clone_based_vega_gene	ENSG00000205562	tier2	1086	0	0	1396	2	0.143061516452074	506	2	0.392156862745098
14	86169010	86169010	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1021	0	0	1361	3	0.219941348973607	512	1	0.194931773879142
14	86539886	86539886	G	A	SNP	ENSG00000258733	ENST00000553668	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTD-2341M24.1	Clone_based_vega_gene	ENSG00000258733	tier4	1309	0	0	900	731	44.7916666666667	490	104	17.5084175084175
14	88303237	88303237	G	A	SNP	ENSG00000258807	ENST00000554305	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-1152H15.1	Clone_based_vega_gene	ENSG00000258807	tier3	620	2	0.321543408360129	753	97	11.4117647058824	369	0	0
14	88544371	88544371	T	A	SNP	LOC283587	ENST00000553496	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-300J18.3	Clone_based_vega_gene	ENSG00000258867	tier3	827	1	0.120772946859903	591	524	46.9955156950673	338	95	21.9399538106236
14	89031892	89031892	A	G	SNP	ZC3H14	ENST00000251038	human	ensembl	70_37	+1	known	intronic	c.79+1855	e2+1855	0.001	-	-	-	no_errors	ZC3H14	HGNC	ENSG00000100722	tier4	1133	0	0	796	681	46.1069735951253	516	118	18.6119873817035
14	89245616	89245616	G	A	SNP	EML5	ENST00000554922	human	ensembl	70_37	-1	known	intronic	c.197+13035	e1+13035	0.067	-	-	-	no_errors	EML5	HGNC	ENSG00000165521	tier3	1502	0	0	2154	2	0.092678405931418	628	2	0.317460317460317
14	89314963	89314963	G	T	SNP	TTC8	ENST00000338104	human	ensembl	70_37	+1	known	intronic	c.672+1944	e7+1944	0.015	-	-	-	no_errors	TTC8	HGNC	ENSG00000165533	tier4	1094	0	0	1599	4	0.249376558603491	448	0	0
14	90001680	90001680	T	C	SNP	FOXN3	ENST00000345097	human	ensembl	70_37	-1	known	intronic	c.1+83692	e0+83692	0.104	-	-	-	no_errors	FOXN3	HGNC	ENSG00000053254	tier3	735	0	0	1229	4	0.32441200324412	444	2	0.448430493273543
14	91119983	91119983	A	G	SNP	TTC7B	ENST00000357056	human	ensembl	70_37	-1	known	intronic	c.1460-741	e13-741	0.000	-	-	-	no_errors	TTC7B	HGNC	ENSG00000165914	tier3	896	0	0	1270	2	0.157232704402516	468	2	0.425531914893617
14	91638410	91638410	A	T	SNP	C14orf159	ENST00000256324	human	ensembl	70_37	+1	known	intronic	c.457-1223	e4-1223	0.035	-	-	-	no_errors	C14orf159	HGNC	ENSG00000133943	tier4	1254	0	0	1984	2	0.100654252642174	559	1	0.178571428571429
14	92920005	92920005	G	A	SNP	SLC24A4	ENST00000526482	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*92920005	NULL	0.000	-	-	-	no_coding_region	SLC24A4	HGNC	ENSG00000140090	tier3	815	0	0	644	681	51.3574660633484	353	53	12.9901960784314
14	93677340	93677340	G	T	SNP	UBR7	ENST00000013070	human	ensembl	70_37	+1	known	intronic	c.345+286	e3+286	0.000	-	-	-	no_errors	UBR7	HGNC	ENSG00000012963	tier3	1859	0	0	2964	6	0.201952204644901	819	0	0
14	93911911	93911911	G	A	SNP	UNC79	ENST00000553484	human	ensembl	70_37	+1	known	intronic	c.22+14514	e1+14514	0.003	-	-	-	no_errors	UNC79	HGNC	ENSG00000133958	tier4	1812	0	0	1292	1180	47.7346278317152	579	178	23.5138705416116
14	94090591	94090591	C	T	SNP	UNC79	ENST00000553484	human	ensembl	70_37	+1	known	intronic	c.5674+1404	e31+1404	0.000	-	-	-	no_errors	UNC79	HGNC	ENSG00000133958	tier3	993	0	0	908	371	29.007036747459	485	0	0
14	95794328	95794328	A	C	SNP	CLMN	ENST00000298912	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-8199	NULL	0.000	-	-	-	no_errors	CLMN	HGNC	ENSG00000165959	tier4	1191	0	0	1542	1	0.0648088139987038	523	36	6.44007155635063
14	97439951	97439951	T	C	SNP	LINC00618	ENST00000435624	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*28220	NULL	0.010	-	-	-	no_errors	LINC00618	HGNC	ENSG00000225163	tier4	2190	0	0	2828	3	0.105932203389831	814	0	0
14	99090174	99090174	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1056	0	0	1357	2	0.147167034584253	444	0	0
14	100358807	100358807	C	T	SNP	EML1	ENST00000334192	human	ensembl	70_37	+1	known	intronic	c.604+1243	e6+1243	0.555	-	-	-	no_errors	EML1	HGNC	ENSG00000066629	tier3	909	0	0	681	589	46.3779527559055	344	69	16.7070217917676
14	102145282	102145282	C	A	SNP	ENSG00000258404	ENST00000557778	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.023	-	-	-	no_errors	RP11-1029J19.5	Clone_based_vega_gene	ENSG00000258404	tier4	281	0	0	434	1	0.229885057471264	237	8	3.26530612244898
14	102581990	102581990	T	G	SNP	HSP90AA1	ENST00000334701	human	ensembl	70_37	-1	known	intronic	c.156-13568	e2-13568	0.522	-	-	-	no_errors	HSP90AA1	HGNC	ENSG00000080824	tier4	1643	0	0	2752	1	0.0363108206245461	429	4	0.919540229885057
14	103454116	103454116	A	C	SNP	CDC42BPB	ENST00000361246	human	ensembl	70_37	-1	known	intronic	c.597-1199	e6-1199	0.004	-	-	-	no_errors	CDC42BPB	HGNC	ENSG00000198752	tier4	1064	0	0	1684	2	0.118413262285376	502	0	0
14	103731794	103731794	T	G	SNP	ENSG00000240624	ENST00000494237	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17476	NULL	0.313	-	-	-	no_coding_region:pseudogene	RP11-45P15.2	Clone_based_vega_gene	ENSG00000240624	tier4	402	0	0	661	4	0.601503759398496	203	2	0.975609756097561
14	104704307	104704307	G	A	SNP	ENSG00000258913	ENST00000553757	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-260M19.2	Clone_based_vega_gene	ENSG00000258913	tier4	619	0	0	776	13	1.64765525982256	293	80	21.4477211796247
14	105075274	105075274	A	C	SNP	TMEM179	ENST00000556573	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4196	NULL	0.037	-	-	-	no_errors	TMEM179	HGNC	ENSG00000258986	tier4	422	0	0	565	5	0.87719298245614	248	2	0.8
14	105354403	105354403	G	A	SNP	KIAA0284	ENST00000453495	human	ensembl	70_37	+1	known	intronic	c.3742+88	e11+88	0.000	-	-	-	no_errors	KIAA0284	HGNC	ENSG00000099814	tier3	150	1	0.662251655629139	113	71	38.5869565217391	79	23	22.5490196078431
14	106120802	106120802	T	G	SNP	ENSG00000254140	ENST00000390540	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-49108	NULL	0.010	-	-	-	no_errors	RP11-731F5.1	Clone_based_vega_gene	ENSG00000254140	tier4	1514	0	0	2153	4	0.185356811862836	878	0	0
14	106233179	106233179	C	T	SNP	IGHEP1	ENST00000521393	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44315	NULL	0.786	-	-	-	no_coding_region:pseudogene	IGHEP1	HGNC	ENSG00000253692	tier3	111	0	0	93	57	38	81	11	11.9565217391304
14	106297785	106297785	C	A	SNP	ENSG00000265612	ENST00000579784	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*25897	NULL	0.726	-	-	-	no_errors	hsa-mir-4539	miRBase	ENSG00000265612	tier4	834	0	0	767	260	25.3164556962025	472	0	0
14	106393036	106393036	C	A	SNP	IGHD3-16	ENST00000390577	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31508	NULL	0.002	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	IGHD3-16	HGNC	ENSG00000211917	tier3	871	1	0.114678899082569	771	381	33.0729166666667	382	0	0
14	106817399	106817399	T	A	SNP	IGHV4-31	ENST00000438142	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11755	NULL	0.000	-	-	-	no_stop_codon	IGHV4-31	HGNC	ENSG00000231475	tier3	1363	0	0	1731	2	0.115207373271889	701	0	0
14	106828130	106828130	C	T	SNP	IGHV4-31	ENST00000438142	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22486	NULL	0.049	-	-	-	no_stop_codon	IGHV4-31	HGNC	ENSG00000231475	tier3	464	0	0	575	3	0.519031141868512	289	0	0
14	106828131	106828131	T	G	SNP	IGHV4-31	ENST00000438142	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22487	NULL	0.047	-	-	-	no_stop_codon	IGHV4-31	HGNC	ENSG00000231475	tier3	453	0	0	564	3	0.529100529100529	290	0	0
15	20018492	20018492	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	98	0	0	111	4	3.47826086956522	62	3	4.61538461538462
15	20496212	20496212	A	G	SNP	CHEK2P2	ENST00000555186	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.031	-	-	-	no_errors	CHEK2P2	HGNC	ENSG00000259156	tier2	122	0	0	150	2	1.31578947368421	95	0	0
15	20544833	20544833	C	G	SNP	ENSG00000258654	ENST00000554815	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9738	NULL	0.138	-	-	-	no_errors	RP11-509A17.3	Clone_based_vega_gene	ENSG00000258654	tier2	1359	0	0	1885	3	0.158814187400741	862	1	0.115340253748558
15	20645725	20645725	A	C	SNP	HERC2P3	ENST00000426501	human	ensembl	70_37	-1	known	splice_site	c.NULL	NULL	1.000	-	-	-	no_errors	HERC2P3	HGNC	ENSG00000180229	tier1	642	0	0	910	4	0.437636761487965	302	1	0.325732899022801
15	20890332	20890332	T	G	SNP	NBEAP1	ENST00000554452	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.009	-	-	-	no_coding_region:pseudogene	NBEAP1	HGNC	ENSG00000258590	tier4	2039	0	0	2955	4	0.135180804325786	1352	3	0.22140221402214
15	21104641	21104641	A	T	SNP	LOC100996331	ENST00000454856	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33031	NULL	0.231	-	-	-	no_errors	POTEB	Uniprot_genename	ENSG00000230031	tier2	1396	0	0	1926	1	0.0518672199170124	787	4	0.50314465408805
15	21917706	21917706	G	C	SNP	ENSG00000207289	ENST00000384559	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-32953	NULL	0.041	-	-	-	no_errors	U6	RFAM	ENSG00000207289	tier4	1177	0	0	1534	3	0.195185426154847	677	4	0.583090379008746
15	21939844	21939844	A	T	SNP	ENSG00000207289	ENST00000384559	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-10815	NULL	0.009	-	-	-	no_errors	U6	RFAM	ENSG00000207289	tier2	2521	0	0	3463	2	0.0577034045008655	1298	0	0
15	21999753	21999753	T	G	SNP	ENSG00000247765	ENST00000500487	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31602	NULL	0.045	-	-	-	no_errors	RP11-32B5.7	Clone_based_vega_gene	ENSG00000247765	tier2	991	0	0	1248	3	0.239808153477218	752	0	0
15	22466205	22466205	T	C	SNP	ENSG00000261271	ENST00000564926	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-22466205	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-603B24.5	Clone_based_vega_gene	ENSG00000261271	tier2	817	0	0	1106	2	0.180505415162455	508	2	0.392156862745098
15	23166855	23166855	A	C	SNP	ENSG00000259480	ENST00000560053	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34928	NULL	0.137	-	-	-	no_errors	RP11-26F2.1	Clone_based_vega_gene	ENSG00000259480	tier4	1297	0	0	1820	1	0.0548847420417124	733	3	0.407608695652174
15	23908977	23908977	A	G	SNP	MAGEL2	ENST00000532292	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17897	NULL	0.001	-	-	-	no_errors	MAGEL2	HGNC	ENSG00000254585	tier2	1240	0	0	1639	2	0.121802679658952	510	0	0
15	24429033	24429033	A	G	SNP	PWRN2	ENST00000566245	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14012	NULL	0.236	-	-	-	no_errors	PWRN2	HGNC	ENSG00000260551	tier4	714	0	0	479	365	43.2464454976303	349	59	14.4607843137255
15	25223412	25223412	C	T	SNP	SNRPN	ENST00000444203	human	ensembl	70_37	+1	known	missense	c.644	p.T215M	0.861	pirsf_snRNP-assoc_SmB/SmN	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	-	no_errors	SNRPN	HGNC	ENSG00000128739	tier1	212	0	0	164	145	46.9255663430421	109	20	15.3846153846154
15	25223412	25223412	C	T	SNP	SNRPN	ENST00000444203	human	ensembl	70_37	+1	known	missense	c.644	p.T215M	0.861	pirsf_snRNP-assoc_SmB/SmN	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	-	no_errors	SNRPN	HGNC	ENSG00000128739	tier1	388	0	0	243	231	48.7341772151899	261	42	13.8157894736842
15	25835230	25835230	G	A	SNP	ENSG00000235731	ENST00000422117	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11292	NULL	0.000	-	-	-	no_errors	AC124997.1	Clone_based_vega_gene	ENSG00000235731	tier2	902	0	0	751	327	30.3339517625232	370	0	0
15	26146809	26146809	G	T	SNP	ATP10A	ENST00000356865	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38566	NULL	0.000	-	-	-	no_errors	ATP10A	HGNC	ENSG00000206190	tier4	1118	1	0.0892857142857143	759	599	44.0765268579838	444	72	13.953488372093
15	26646289	26646289	C	T	SNP	ENSG00000235160	ENST00000451579	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.053	-	-	-	no_errors	AC009878.2	Clone_based_vega_gene	ENSG00000235160	tier4	1145	0	0	1470	2	0.135869565217391	600	2	0.327868852459016
15	26661659	26661659	T	A	SNP	ENSG00000235160	ENST00000451579	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.253	-	-	-	no_errors	AC009878.2	Clone_based_vega_gene	ENSG00000235160	tier4	1533	0	0	1976	2	0.101112234580384	735	0	0
15	27664276	27664276	G	T	SNP	ENSG00000258970	ENST00000557025	human	ensembl	70_37	-1	known	splice_region	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-100M12.1	Clone_based_vega_gene	ENSG00000258970	tier2	996	1	0.100300902708124	990	120	10.8108108108108	519	8	1.51228733459357
15	29051782	29051782	C	T	SNP	LOC646278	ENST00000562423	human	ensembl	70_37	+1	putative	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-578F21.12	Clone_based_vega_gene	ENSG00000261377	tier2	1044	0	0	1325	6	0.450788880540947	569	0	0
15	29435496	29435496	A	G	SNP	FAM189A1	ENST00000261275	human	ensembl	70_37	-1	known	intronic	c.631-6099	e6-6099	0.000	-	-	-	no_errors	FAM189A1	HGNC	ENSG00000104059	tier2	2107	0	0	2757	6	0.217155266015201	788	3	0.379266750948167
15	29828224	29828224	C	A	SNP	FAM189A1	ENST00000261275	human	ensembl	70_37	-1	known	intronic	c.219+34485	e1+34485	0.003	-	-	-	no_errors	FAM189A1	HGNC	ENSG00000104059	tier4	560	0	0	738	63	7.86516853932584	332	2	0.598802395209581
15	31498152	31498152	A	C	SNP	TRPM1	ENST00000542188	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-44990	NULL	0.003	-	-	-	no_errors	TRPM1	HGNC	ENSG00000134160	tier4	958	0	0	1502	2	0.132978723404255	437	5	1.12107623318386
15	31529785	31529785	G	A	SNP	ENSG00000259772	ENST00000558109	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-8172	NULL	0.009	-	-	-	no_errors	RP11-16E12.2	Clone_based_vega_gene	ENSG00000259772	tier2	815	0	0	655	539	45.142378559464	379	79	17.2489082969432
15	33438888	33438888	C	T	SNP	FMN1	ENST00000559047	human	ensembl	70_37	-1	novel	intronic	c.1867+6361	e1+6361	0.000	-	-	-	no_errors	FMN1	HGNC	ENSG00000248905	tier2	1228	2	0.16260162601626	834	670	44.5478723404255	530	109	16.9517884914463
15	33594227	33594227	C	A	SNP	RYR3	ENST00000389232	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9020	NULL	0.319	-	-	-	no_errors	RYR3	HGNC	ENSG00000198838	tier2	1330	1	0.0750750750750751	901	767	45.9556620730977	598	106	15.0354609929078
15	33680047	33680047	T	G	SNP	RYR3	ENST00000389232	human	ensembl	70_37	+1	known	intronic	c.51+76750	e1+76750	0.000	-	-	-	no_errors	RYR3	HGNC	ENSG00000198838	tier4	889	0	0	1241	3	0.241157556270096	381	1	0.261780104712042
15	33692060	33692060	T	A	SNP	RYR3	ENST00000389232	human	ensembl	70_37	+1	known	intronic	c.52-73560	e2-73560	0.922	-	-	-	no_errors	RYR3	HGNC	ENSG00000198838	tier2	1793	0	0	1129	948	45.6427539720751	499	111	18.1967213114754
15	33902381	33902381	A	C	SNP	RYR3	ENST00000389232	human	ensembl	70_37	+1	known	intronic	c.2165-3003	e19-3003	0.000	-	-	-	no_errors	RYR3	HGNC	ENSG00000198838	tier2	698	0	0	772	3	0.387096774193548	303	1	0.328947368421053
15	35395366	35395366	G	A	SNP	ENSG00000259336	ENST00000559246	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.204	-	-	-	no_errors	RP11-323I15.5	Clone_based_vega_gene	ENSG00000259336	tier2	888	0	0	1169	2	0.170648464163823	391	1	0.254452926208651
15	36092392	36092392	C	T	SNP	ATPBD4-AS1	ENST00000501169	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	ATPBD4-AS1	HGNC	ENSG00000248079	tier2	1549	0	0	956	716	42.822966507177	559	118	17.3784977908689
15	36776935	36776935	C	T	SNP	ENSG00000259737	ENST00000558262	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24285	NULL	0.001	-	-	-	no_errors	RP11-475A13.1	Clone_based_vega_gene	ENSG00000259737	tier2	1201	0	0	1393	183	11.6116751269036	551	0	0
15	37036103	37036103	C	A	SNP	C15orf41	ENST00000437989	human	ensembl	70_37	+1	known	intronic	c.716+33941	e10+33941	0.000	-	-	-	no_errors	C15orf41	HGNC	ENSG00000186073	tier4	1574	0	0	2220	2	0.09000900090009	642	5	0.770416024653313
15	38406446	38406446	T	G	SNP	LOC100507568	ENST00000434223	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-41562	NULL	0.148	-	-	-	no_errors	RP11-1008C21.2	Clone_based_vega_gene	ENSG00000236914	tier2	1878	0	0	2517	2	0.0793965859468043	778	0	0
15	38706961	38706961	A	T	SNP	FAM98B	ENST00000397609	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39402	NULL	0.002	-	-	-	no_errors	FAM98B	HGNC	ENSG00000171262	tier2	723	0	0	480	399	45.3924914675768	282	62	18.0232558139535
15	39343989	39343989	G	A	SNP	ENSG00000259345	ENST00000560197	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.192	-	-	-	no_errors	RP11-624L4.1	Clone_based_vega_gene	ENSG00000259345	tier4	1184	0	0	819	567	40.8795962509012	437	108	19.8165137614679
15	39756466	39756466	A	G	SNP	ENSG00000259345	ENST00000558209	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37070	NULL	0.013	-	-	-	no_errors	RP11-624L4.1	Clone_based_vega_gene	ENSG00000259345	tier4	1853	0	0	2607	3	0.114898506319418	803	1	0.124069478908189
15	39766652	39766652	G	A	SNP	ENSG00000259269	ENST00000560552	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.028	-	-	-	no_errors	RP11-624L4.2	Clone_based_vega_gene	ENSG00000259269	tier2	577	0	0	407	350	46.1741424802111	240	34	12.4087591240876
15	42648928	42648928	T	C	SNP	CAPN3	ENST00000356316	human	ensembl	70_37	+1	known	intronic	c.48+2277	e1+2277	0.027	-	-	-	no_errors	CAPN3	HGNC	ENSG00000092529	tier2	858	0	0	1271	2	0.157109190887667	447	0	0
15	43509223	43509223	A	C	SNP	EPB42	ENST00000300215	human	ensembl	70_37	-1	known	intronic	c.101-572	e2-572	0.003	-	-	-	no_errors	EPB42	HGNC	ENSG00000166947	tier2	679	0	0	1016	2	0.196463654223969	400	0	0
15	44849384	44849384	T	G	SNP	EIF3J	ENST00000261868	human	ensembl	70_37	+1	known	intronic	c.410-303	e6-303	0.001	-	-	-	no_errors	EIF3J	HGNC	ENSG00000104131	tier4	425	0	0	625	2	0.318979266347687	237	0	0
15	46535678	46535678	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	899	0	0	1024	12	1.15718418514947	436	92	17.4242424242424
15	46730408	46730408	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1145	1	0.087260034904014	1552	37	2.32850849590938	625	0	0
15	46981507	46981507	G	A	SNP	ENSG00000259255	ENST00000559148	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3979	NULL	0.000	-	-	-	no_errors	RP11-627D16.1	Clone_based_vega_gene	ENSG00000259255	tier4	1800	0	0	1301	1020	43.946574752262	606	160	20.7792207792208
15	47196490	47196490	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1281	0	0	857	731	46.0037759597231	559	82	12.7131782945736
15	48135386	48135386	A	C	SNP	ENSG00000259572	ENST00000558434	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-198M11.2	Clone_based_vega_gene	ENSG00000259572	tier2	555	0	0	708	2	0.28169014084507	247	0	0
15	49287403	49287403	G	T	SNP	SECISBP2L	ENST00000559471	human	ensembl	70_37	-1	known	intronic	c.2623+1161	e17+1161	0.000	-	-	-	no_errors	SECISBP2L	HGNC	ENSG00000138593	tier2	865	0	0	1230	5	0.40453074433657	398	3	0.748129675810474
15	50105049	50105049	T	C	SNP	FGF7	ENST00000560765	human	ensembl	70_37	+1	known	intronic	c.585-44264	e4-44264	0.000	-	-	-	no_errors	FGF7	HGNC	ENSG00000140285	tier4	828	0	0	1160	3	0.257953568357696	417	1	0.238095238095238
15	50781364	50781364	A	T	SNP	USP8	ENST00000307179	human	ensembl	70_37	+1	known	intronic	c.1891-634	e12-634	0.001	-	-	-	no_errors	USP8	HGNC	ENSG00000138592	tier2	391	0	0	614	1	0.16260162601626	291	3	1.02040816326531
15	51381470	51381470	A	C	SNP	TNFAIP8L3	ENST00000327536	human	ensembl	70_37	-1	known	intronic	c.316+5271	e2+5271	0.000	-	-	-	no_errors	TNFAIP8L3	HGNC	ENSG00000183578	tier2	372	0	0	558	4	0.711743772241993	190	0	0
15	51667860	51667860	A	C	SNP	GLDN	ENST00000335449	human	ensembl	70_37	+1	known	intronic	c.364-1786	e2-1786	0.000	-	-	-	no_errors	GLDN	HGNC	ENSG00000186417	tier2	596	0	0	823	3	0.36319612590799	270	1	0.367647058823529
15	52038928	52038928	A	C	SNP	LYSMD2	ENST00000454181	human	ensembl	70_37	-1	known	intronic	c.1+4540	e0+4540	0.210	-	-	-	no_errors	LYSMD2	HGNC	ENSG00000140280	tier4	769	0	0	1116	5	0.446030330062444	363	4	1.08991825613079
15	52990509	52990509	A	G	SNP	FAM214A	ENST00000561490	human	ensembl	70_37	-1	known	intronic	c.1+11414	e0+11414	0.000	-	-	-	no_stop_codon	FAM214A	HGNC	ENSG00000047346	tier4	880	0	0	1136	3	0.262927256792287	377	0	0
15	53556639	53556639	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	606	0	0	791	4	0.50314465408805	318	4	1.24223602484472
15	56701022	56701022	C	A	SNP	ENSG00000261823	ENST00000561934	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.013	-	-	-	no_errors	RP11-48G14.1	Clone_based_vega_gene	ENSG00000261823	tier1	861	0	0	1129	2	0.17683465959328	432	4	0.917431192660551
15	57286339	57286339	A	G	SNP	TCF12	ENST00000438423	human	ensembl	70_37	+1	known	intronic	c.149-69609	e3-69609	0.002	-	-	-	no_errors	TCF12	HGNC	ENSG00000140262	tier4	1511	0	0	2211	2	0.0903750564844103	561	3	0.531914893617021
15	57301907	57301907	G	A	SNP	TCF12	ENST00000438423	human	ensembl	70_37	+1	known	intronic	c.149-54041	e3-54041	0.002	-	-	-	no_errors	TCF12	HGNC	ENSG00000140262	tier3	1143	0	0	1473	172	10.4432301153613	564	2	0.353356890459364
15	57318460	57318460	A	C	SNP	TCF12	ENST00000438423	human	ensembl	70_37	+1	known	intronic	c.149-37488	e3-37488	0.000	-	-	-	no_errors	TCF12	HGNC	ENSG00000140262	tier4	525	0	0	747	4	0.531914893617021	254	0	0
15	57378647	57378647	A	C	SNP	TCF12	ENST00000438423	human	ensembl	70_37	+1	known	intronic	c.223-5340	e4-5340	0.001	-	-	-	no_errors	TCF12	HGNC	ENSG00000140262	tier4	954	0	0	1303	4	0.305576776165011	438	2	0.454545454545455
15	57826647	57826647	A	C	SNP	CGNL1	ENST00000281282	human	ensembl	70_37	+1	known	intronic	c.3291+2670	e13+2670	0.018	-	-	-	no_errors	CGNL1	HGNC	ENSG00000128849	tier3	571	0	0	672	2	0.29673590504451	255	1	0.390625
15	58067762	58067762	C	T	SNP	POLR2M	ENST00000482852	human	ensembl	70_37	+1	known	intronic	c.1092-2031	e5-2031	0.000	-	-	-	no_errors	POLR2M	HGNC	ENSG00000255529	tier3	1247	1	0.0801282051282051	793	638	44.5842068483578	488	101	17.0896785109983
15	60121896	60121896	C	A	SNP	ENSG00000259601	ENST00000558620	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*41814	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-568G20.2	Clone_based_vega_gene	ENSG00000259601	tier3	871	0	0	601	526	46.6725820763088	425	79	15.6126482213439
15	60979044	60979044	G	A	SNP	LOC100996876	ENST00000558104	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	RP11-219B17.2	Clone_based_vega_gene	ENSG00000259482	tier1	1908	0	0	1676	770	31.4799672935405	754	0	0
15	63140299	63140299	G	T	SNP	ENSG00000259370	ENST00000557994	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.915	-	-	-	no_errors	RP11-1069G10.1	Clone_based_vega_gene	ENSG00000259370	tier1	1066	0	0	711	597	45.6422018348624	383	82	17.6344086021505
15	63755912	63755912	G	A	SNP	ENSG00000259268	ENST00000560465	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	AC007950.1	Clone_based_vega_gene	ENSG00000259268	tier2	585	0	0	475	368	43.6536180308422	268	58	17.7914110429448
15	63812071	63812071	A	T	SNP	USP3	ENST00000380324	human	ensembl	70_37	+1	known	intronic	c.92-12775	e2-12775	0.279	-	-	-	no_errors	USP3	HGNC	ENSG00000140455	tier4	1031	0	0	1359	3	0.220264317180617	456	2	0.436681222707424
15	64378699	64378699	A	C	SNP	FAM96A	ENST00000300030	human	ensembl	70_37	-1	known	intronic	c.289+2187	e2+2187	0.759	-	-	-	no_errors	FAM96A	HGNC	ENSG00000166797	tier4	1052	0	0	1508	2	0.132362673726009	513	0	0
15	64517451	64517451	A	C	SNP	CSNK1G1	ENST00000303052	human	ensembl	70_37	-1	known	intronic	c.293-8539	e4-8539	0.005	-	-	-	no_errors	CSNK1G1	HGNC	ENSG00000169118	tier4	2168	0	0	3653	2	0.0546448087431694	646	1	0.153609831029186
15	65520773	65520773	C	T	SNP	CILP	ENST00000261883	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-18680	NULL	0.006	-	-	-	no_errors	CILP	HGNC	ENSG00000138615	tier3	460	2	0.432900432900433	385	310	44.6043165467626	287	79	21.3513513513514
15	66956917	66956917	C	T	SNP	ENSG00000259471	ENST00000558797	human	ensembl	70_37	+1	novel	intronic	c.124+127	e2+127	0.273	-	-	-	no_errors	RP11-321F6.1	Clone_based_vega_gene	ENSG00000259471	tier4	548	0	0	698	5	0.710227272727273	301	1	0.33112582781457
15	67109580	67109580	G	A	SNP	SMAD6	ENST00000288840	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*35707	NULL	0.013	-	-	-	no_errors	SMAD6	HGNC	ENSG00000137834	tier4	1396	0	0	1019	875	46.1741424802111	543	86	13.6724960254372
15	70821526	70821526	G	C	SNP	ENSG00000259473	ENST00000559752	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-23259	NULL	0.016	-	-	-	no_errors	RP11-96C21.1	Clone_based_vega_gene	ENSG00000259473	tier3	881	0	0	703	558	44.1805225653207	277	72	20.6303724928367
15	72186986	72186986	T	G	SNP	MYO9A	ENST00000424560	human	ensembl	70_37	-1	known	intronic	c.5043-867	e25-867	0.002	-	-	-	no_errors	MYO9A	HGNC	ENSG00000066933	tier3	901	0	0	1294	4	0.307929176289453	475	7	1.45228215767635
15	72266773	72266773	A	G	SNP	MYO9A	ENST00000424560	human	ensembl	70_37	-1	known	intronic	c.1844+3739	e11+3739	0.031	-	-	-	no_errors	MYO9A	HGNC	ENSG00000066933	tier4	1524	0	0	2293	3	0.130662020905923	701	0	0
15	72280907	72280907	A	C	SNP	MYO9A	ENST00000424560	human	ensembl	70_37	-1	known	intronic	c.1722+2537	e10+2537	0.017	-	-	-	no_errors	MYO9A	HGNC	ENSG00000066933	tier3	1291	0	0	1837	2	0.108754758020663	564	1	0.176991150442478
15	73783301	73783301	G	A	SNP	C15orf60	ENST00000331090	human	ensembl	70_37	+1	known	intronic	c.249+17039	e2+17039	0.057	-	-	-	no_errors	C15orf60	HGNC	ENSG00000183324	tier4	731	0	0	950	4	0.418848167539267	376	0	0
15	74663925	74663925	A	C	SNP	CYP11A1	ENST00000268053	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3999	NULL	0.050	-	-	-	no_errors	CYP11A1	HGNC	ENSG00000140459	tier4	620	0	0	902	2	0.221238938053097	269	3	1.10294117647059
15	74967445	74967445	T	C	SNP	EDC3	ENST00000315127	human	ensembl	70_37	-1	known	silent	c.21	p.G7	0.998	NULL	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	-	no_errors	EDC3	HGNC	ENSG00000179151	tier1	487	0	0	756	2	0.263852242744063	262	0	0
15	76100484	76100484	T	G	SNP	UBE2Q2	ENST00000267938	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35524	NULL	0.005	-	-	-	no_errors	UBE2Q2	HGNC	ENSG00000140367	tier3	529	0	0	777	2	0.256410256410256	286	2	0.694444444444444
15	76138913	76138913	C	T	SNP	UBE2Q2	ENST00000267938	human	ensembl	70_37	+1	known	intronic	c.180+2726	e1+2726	0.000	-	-	-	no_errors	UBE2Q2	HGNC	ENSG00000140367	tier3	660	0	0	1036	2	0.192678227360308	406	5	1.21654501216545
15	76275526	76275526	C	A	SNP	NRG4	ENST00000394907	human	ensembl	70_37	-1	known	intronic	c.105-21211	e3-21211	0.013	-	-	-	no_errors	NRG4	HGNC	ENSG00000169752	tier4	1292	0	0	1874	5	0.266098988823842	509	2	0.388349514563107
15	77691099	77691099	T	G	SNP	PEAK1	ENST00000560626	human	ensembl	70_37	-1	known	intronic	c.1+21249	e0+21249	0.726	-	-	-	no_errors	PEAK1	Uniprot_genename	ENSG00000173517	tier4	1933	0	0	1463	1175	44.5413191811979	480	136	22.0779220779221
15	79357992	79357992	G	A	SNP	RASGRF1	ENST00000419573	human	ensembl	70_37	-1	known	intronic	c.277-1124	e2-1124	0.000	-	-	-	no_errors	RASGRF1	HGNC	ENSG00000058335	tier3	525	0	0	486	216	30.7254623044097	255	1	0.390625
15	80814023	80814023	C	T	SNP	ARNT2	ENST00000303329	human	ensembl	70_37	+1	known	intronic	c.877+7277	e8+7277	0.000	-	-	-	no_errors	ARNT2	HGNC	ENSG00000172379	tier3	981	1	0.10183299389002	1238	122	8.97058823529412	586	0	0
15	81702727	81702727	A	C	SNP	TMC3	ENST00000359440	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-36309	NULL	0.000	-	-	-	no_errors	TMC3	HGNC	ENSG00000188869	tier3	826	0	0	1123	3	0.266193433895297	417	0	0
15	81809859	81809859	T	G	SNP	ENSG00000259543	ENST00000559211	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTD-2034I4.1	Clone_based_vega_gene	ENSG00000259543	tier3	949	0	0	1235	2	0.161681487469685	537	0	0
15	81922766	81922766	A	G	SNP	ENSG00000259594	ENST00000558141	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	CTD-2034I4.2	Clone_based_vega_gene	ENSG00000259594	tier3	1675	0	0	2547	5	0.195924764890282	666	0	0
15	83762457	83762457	T	G	SNP	ENSG00000259805	ENST00000566841	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.049	-	-	-	no_errors	RP11-382A20.5	Clone_based_vega_gene	ENSG00000259805	tier4	629	0	0	939	3	0.318471337579618	357	1	0.277777777777778
15	85880482	85880482	T	G	SNP	AKAP13	ENST00000361243	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-148470	NULL	0.095	-	-	-	no_errors	AKAP13	HGNC	ENSG00000170776	tier4	748	0	0	1062	2	0.18796992481203	418	0	0
15	87395174	87395174	A	T	SNP	AGBL1	ENST00000441037	human	ensembl	70_37	+1	known	intronic	c.3084-136044	e22-136044	0.000	-	-	-	no_errors	AGBL1	HGNC	ENSG00000166748	tier4	1113	0	0	1427	2	0.139958012596221	454	0	0
15	87714856	87714856	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1371	0	0	1792	2	0.111482720178372	642	0	0
15	88727273	88727273	G	A	SNP	NTRK3	ENST00000360948	human	ensembl	70_37	-1	known	intronic	c.323+183	e2+183	0.002	-	-	-	no_errors	NTRK3	HGNC	ENSG00000140538	tier3	1522	0	0	1004	846	45.7050243111831	549	119	17.814371257485
15	89135370	89135370	T	G	SNP	ENSG00000249487	ENST00000506090	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.029	-	-	-	no_errors	RP11-97O12.2	Clone_based_vega_gene	ENSG00000249487	tier4	1406	1	0.0710227272727273	1031	887	46.2460896767466	583	122	17.3049645390071
15	90569284	90569284	T	A	SNP	ZNF710	ENST00000268154	human	ensembl	70_37	+1	known	intronic	c.1+24438	e0+24438	0.113	-	-	-	no_errors	ZNF710	HGNC	ENSG00000140548	tier4	1131	0	0	1820	2	0.109769484083425	641	0	0
15	90631934	90631934	C	T	SNP	IDH2	ENST00000330062	human	ensembl	70_37	-1	known	missense	c.419	p.R140Q	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054	tier1	286	0	0	257	6	2.28	245	38	13.38
15	90981833	90981833	G	A	SNP	IQGAP1	ENST00000268182	human	ensembl	70_37	+1	known	intronic	c.468-731	e6-731	0.000	-	-	-	no_errors	IQGAP1	HGNC	ENSG00000140575	tier3	1236	0	0	996	784	44.0449438202247	566	126	18
15	91561926	91561926	T	G	SNP	VPS33B	ENST00000333371	human	ensembl	70_37	-1	known	intronic	c.97-811	e2-811	0.001	-	-	-	no_errors	VPS33B	HGNC	ENSG00000184056	tier4	279	0	0	413	2	0.481927710843374	192	1	0.518134715025907
15	92344250	92344250	T	G	SNP	ENSG00000238981	ENST00000459209	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-34359	NULL	0.002	-	-	-	no_errors	snoU13	RFAM	ENSG00000238981	tier3	1005	0	0	1336	3	0.223880597014925	388	2	0.512820512820513
15	92966965	92966965	A	C	SNP	ST8SIA2	ENST00000268164	human	ensembl	70_37	+1	known	intronic	c.99-6314	e2-6314	0.000	-	-	-	no_errors	ST8SIA2	HGNC	ENSG00000140557	tier4	574	0	0	815	2	0.244498777506112	226	2	0.87719298245614
15	93195796	93195796	T	G	SNP	FAM174B	ENST00000327355	human	ensembl	70_37	-1	known	intronic	c.344+2750	e1+2750	0.000	-	-	-	no_errors	FAM174B	HGNC	ENSG00000185442	tier3	786	0	0	1183	2	0.168776371308017	442	2	0.45045045045045
15	95269189	95269189	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	676	0	0	920	5	0.538793103448276	201	0	0
15	95643820	95643820	A	G	SNP	ENSG00000258773	ENST00000554787	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.004	-	-	-	no_errors	RP11-255M2.2	Clone_based_vega_gene	ENSG00000258773	tier4	1067	2	0.187090739008419	771	573	42.6022304832714	518	130	20.0617283950617
15	96266117	96266117	A	C	SNP	RNU2-3P	ENST00000410144	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22916	NULL	0.031	-	-	-	no_errors	RNU2-3P	HGNC	ENSG00000222076	tier4	1198	0	0	1458	2	0.136986301369863	532	2	0.374531835205993
15	96503316	96503316	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1740	0	0	2434	5	0.2050020500205	637	1	0.15625
15	97125120	97125120	G	A	SNP	ENSG00000259340	ENST00000559699	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*30373	NULL	0.942	-	-	-	no_coding_region:pseudogene	CTD-2027G2.1	Clone_based_vega_gene	ENSG00000259340	tier3	1060	0	0	666	540	44.7761194029851	404	84	17.1428571428571
15	98116020	98116020	C	A	SNP	ENSG00000259582	ENST00000559363	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-12088	NULL	0.021	-	-	-	no_errors	RP11-461F11.3	Clone_based_vega_gene	ENSG00000259582	tier3	656	1	0.151975683890578	477	392	45.0574712643678	267	65	19.578313253012
15	98375729	98375729	G	T	SNP	ENSG00000251209	ENST00000503768	human	ensembl	70_37	-1	known	intronic	c.333+41454	e1+41454	0.000	-	-	-	no_errors	RP11-82I10.1	Clone_based_vega_gene	ENSG00000251209	tier4	359	0	0	435	2	0.45766590389016	167	2	1.18343195266272
15	98652997	98652997	T	A	SNP	ENSG00000259199	ENST00000560360	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTD-2544M6.1	Clone_based_vega_gene	ENSG00000259199	tier3	565	0	0	369	296	44.5112781954887	247	50	16.8350168350168
15	99230278	99230278	G	C	SNP	IGF1R	ENST00000268035	human	ensembl	70_37	+1	known	intronic	c.95-20513	e2-20513	0.002	-	-	-	no_errors	IGF1R	HGNC	ENSG00000140443	tier3	1700	1	0.0587199060481503	1321	1195	47.4960254372019	631	121	15.8376963350785
15	99274064	99274064	C	T	SNP	IGF1R	ENST00000268035	human	ensembl	70_37	+1	known	intronic	c.640+22728	e2+22728	0.000	-	-	-	no_errors	IGF1R	HGNC	ENSG00000140443	tier3	1051	0	0	1504	7	0.46265697290152	494	0	0
15	99628784	99628784	T	G	SNP	ENSG00000259475	ENST00000559468	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	RP11-654A16.3	Clone_based_vega_gene	ENSG00000259475	tier3	614	0	0	862	2	0.23094688221709	289	3	1.02739726027397
15	101408867	101408867	A	C	SNP	LOC145757	ENST00000558475	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-66B24.1	Clone_based_vega_gene	ENSG00000259604	tier3	1058	0	0	1315	4	0.302800908402725	430	0	0
15	102148051	102148051	C	T	SNP	ENSG00000259695	ENST00000560214	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26292	NULL	0.009	-	-	-	no_coding_region:pseudogene	RP11-14C10.2	Clone_based_vega_gene	ENSG00000259695	tier4	686	1	0.145560407569141	692	357	34	284	0	0
16	807868	807868	G	T	SNP	MSLN	ENST00000446427	human	ensembl	70_37	+1	known	intronic	c.1-4764	e1-4764	0.015	-	-	-	no_errors	MSLN	HGNC	ENSG00000102854	tier4	443	0	0	685	3	0.436046511627907	273	4	1.44404332129964
16	1235461	1235461	C	T	SNP	CACNA1H	ENST00000348261	human	ensembl	70_37	+1	known	intronic	c.300-9511	e2-9511	0.343	-	-	-	no_errors	CACNA1H	HGNC	ENSG00000196557	tier2	85	0	0	97	36	27.0676691729323	48	0	0
16	1450051	1450051	T	G	SNP	UNKL	ENST00000397462	human	ensembl	70_37	-1	known	intronic	c.860-493	e7-493	0.000	-	-	-	no_errors	UNKL	HGNC	ENSG00000059145	tier4	615	0	0	912	1	0.109289617486339	368	2	0.540540540540541
16	3283063	3283063	C	A	SNP	ZNF200	ENST00000414144	human	ensembl	70_37	-1	known	intronic	c.251-142	e2-142	0.021	-	-	-	no_errors	ZNF200	HGNC	ENSG00000010539	tier3	258	0	0	431	5	1.14678899082569	136	0	0
16	3587348	3587348	C	T	SNP	CLUAP1	ENST00000576634	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*1077	NULL	0.000	-	-	-	no_errors	CLUAP1	HGNC	ENSG00000103351	tier4	1901	0	0	2978	2	0.0670016750418761	758	2	0.26246719160105
16	4493687	4493687	T	C	SNP	DNAJA3	ENST00000262375	human	ensembl	70_37	+1	known	intronic	c.931+522	e6+522	0.000	-	-	-	no_errors	DNAJA3	HGNC	ENSG00000103423	tier4	672	0	0	1026	5	0.484966052376334	527	0	0
16	4549506	4549506	A	G	SNP	HMOX2	ENST00000219700	human	ensembl	70_37	+1	known	intronic	c.1-5979	e1-5979	0.003	-	-	-	no_errors	HMOX2	HGNC	ENSG00000103415	tier4	480	0	0	851	2	0.234192037470726	357	0	0
16	5404739	5404739	C	T	SNP	LOC100287538	ENST00000569895	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-420N3.2	Clone_based_vega_gene	ENSG00000260411	tier3	625	1	0.159744408945687	845	14	1.62980209545984	288	57	16.5217391304348
16	6095775	6095775	A	G	SNP	RBFOX1	ENST00000547372	human	ensembl	70_37	+1	known	intronic	c.3+25873	e1+25873	0.001	-	-	-	no_errors	RBFOX1	HGNC	ENSG00000078328	tier4	1047	0	0	708	547	43.5509554140127	447	73	14.0384615384615
16	6212463	6212463	A	T	SNP	RBFOX1	ENST00000547372	human	ensembl	70_37	+1	known	intronic	c.3+142561	e1+142561	0.000	-	-	-	no_errors	RBFOX1	HGNC	ENSG00000078328	tier3	707	0	0	881	2	0.226244343891403	335	2	0.586510263929619
16	7840098	7840098	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1714	0	0	2165	2	0.0922934933087217	627	2	0.316957210776545
16	7861320	7861320	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	837	0	0	1105	3	0.270513976555455	283	4	1.39372822299652
16	7928629	7928629	C	T	SNP	ENSG00000260289	ENST00000567103	human	ensembl	70_37	-1	putative	3_prime_flanking_region	c.*9862	NULL	0.032	-	-	-	no_errors	CTD-2535I10.1	Clone_based_vega_gene	ENSG00000260289	tier3	1184	1	0.0843881856540084	1389	177	11.3026819923372	656	0	0
16	8533440	8533440	A	C	SNP	ENSG00000260379	ENST00000567734	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24631	NULL	0.994	-	-	-	no_coding_region:pseudogene	RP11-483K5.2	Clone_based_vega_gene	ENSG00000260379	tier3	1485	0	0	1976	2	0.101112234580384	641	5	0.770416024653313
16	10848450	10848450	T	C	SNP	NUBP1	ENST00000283027	human	ensembl	70_37	+1	known	intronic	c.328-1128	e5-1128	0.001	-	-	-	no_errors	NUBP1	HGNC	ENSG00000103274	tier4	651	0	0	489	396	44.7457627118644	361	58	13.8424821002387
16	11036927	11036927	A	G	SNP	CLEC16A	ENST00000409790	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1648	NULL	0.003	-	-	-	no_errors	CLEC16A	HGNC	ENSG00000038532	tier2	1426	0	0	1509	626	29.3071161048689	684	0	0
16	11405185	11405185	A	G	SNP	RMI2	ENST00000572173	human	ensembl	70_37	+1	known	intronic	c.1-1501	e1-1501	0.282	-	-	-	no_errors	RMI2	HGNC	ENSG00000175643	tier4	280	0	0	420	2	0.4739336492891	179	0	0
16	11434500	11434500	A	C	SNP	RMI2	ENST00000381820	human	ensembl	70_37	+1	known	intronic	c.107-9999	e2-9999	0.069	-	-	-	no_errors	RMI2	HGNC	ENSG00000175643	tier4	514	0	0	803	2	0.248447204968944	225	0	0
16	12334886	12334886	C	T	SNP	SNX29	ENST00000306030	human	ensembl	70_37	+1	known	intronic	c.524-36904	e7-36904	0.000	-	-	-	no_errors	SNX29	HGNC	ENSG00000048471	tier3	1055	1	0.0946969696969697	750	549	42.1983089930822	430	122	22.0216606498195
16	12840534	12840534	A	C	SNP	CPPED1	ENST00000381774	human	ensembl	70_37	-1	known	intronic	c.289+34508	e2+34508	0.011	-	-	-	no_errors	CPPED1	HGNC	ENSG00000103381	tier4	1249	0	0	1767	1	0.0565291124929339	666	4	0.595238095238095
16	13076092	13076092	G	T	SNP	SHISA9	ENST00000558583	human	ensembl	70_37	+1	known	intronic	c.814+65420	e2+65420	0.000	-	-	-	no_errors	SHISA9	HGNC	ENSG00000237515	tier4	253	0	0	357	3	0.833333333333333	158	0	0
16	13461460	13461460	T	C	SNP	ENSG00000262801	ENST00000571619	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.011	-	-	-	no_errors	U91319.1	Clone_based_vega_gene	ENSG00000262801	tier3	557	0	0	401	285	41.4847161572052	232	46	16.5467625899281
16	13753898	13753898	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	795	0	0	1109	2	0.18001800180018	422	5	1.17096018735363
16	13849092	13849092	G	C	SNP	ENSG00000262267	ENST00000573369	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	U95743.1	Clone_based_vega_gene	ENSG00000262267	tier4	584	0	0	717	2	0.277777777777778	352	1	0.28328611898017
16	14538517	14538517	A	C	SNP	PARN	ENST00000437198	human	ensembl	70_37	-1	known	intronic	c.1864+2228	e23+2228	0.000	-	-	-	no_errors	PARN	HGNC	ENSG00000140694	tier3	1165	0	0	1874	2	0.106496272630458	520	6	1.14068441064639
16	15960368	15960368	A	T	SNP	FOPNL	ENST00000255759	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*929	NULL	0.007	-	-	-	no_errors	FOPNL	HGNC	ENSG00000133393	tier3	1268	0	0	1033	762	42.4512534818942	577	143	19.8611111111111
16	17054220	17054220	T	G	SNP	ENSG00000261748	ENST00000564217	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-6895	NULL	0.537	-	-	-	no_coding_region:pseudogene	RP11-419L9.1	Clone_based_vega_gene	ENSG00000261748	tier4	667	0	0	943	2	0.211640211640212	374	3	0.795755968169761
16	17265229	17265229	A	C	SNP	XYLT1	ENST00000261381	human	ensembl	70_37	-1	known	intronic	c.1290-12463	e6-12463	0.000	-	-	-	no_errors	XYLT1	HGNC	ENSG00000103489	tier3	404	0	0	612	2	0.325732899022801	252	2	0.78740157480315
16	17690174	17690174	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1294	0	0	1789	2	0.111669458403127	579	0	0
16	19497468	19497468	T	G	SNP	TMC5	ENST00000396229	human	ensembl	70_37	+1	known	intronic	c.2364-799	e14-799	0.000	-	-	-	no_errors	TMC5	HGNC	ENSG00000103534	tier4	768	0	0	1101	2	0.180995475113122	370	0	0
16	20180127	20180127	G	A	SNP	ENSG00000263253	ENST00000570859	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40120	NULL	0.003	-	-	-	no_errors	RP11-204E4.3	Clone_based_vega_gene	ENSG00000263253	tier4	442	1	0.225733634311512	322	244	43.1095406360424	235	46	16.3701067615658
16	21718473	21718473	A	C	SNP	OTOA	ENST00000286149	human	ensembl	70_37	+1	known	intronic	c.1146+1860	e11+1860	0.001	-	-	-	no_errors	OTOA	HGNC	ENSG00000155719	tier4	505	0	0	837	2	0.238379022646007	294	0	0
16	22803772	22803772	T	G	SNP	HS3ST2	ENST00000261374	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-22160	NULL	0.000	-	-	-	no_errors	HS3ST2	HGNC	ENSG00000122254	tier4	1091	0	0	1473	2	0.13550135501355	505	1	0.196463654223969
16	23489688	23489688	C	T	SNP	GGA2	ENST00000309859	human	ensembl	70_37	-1	known	splice_site	c.1292+1	e13+1	0.975	-	-	-	no_errors	GGA2	HGNC	ENSG00000103365	tier1	629	2	0.316957210776545	508	386	43.1767337807606	282	51	15.3153153153153
16	23489688	23489688	C	T	SNP	GGA2	ENST00000309859	human	ensembl	70_37	-1	known	splice_site	c.1292+1	e13+1	0.975	-	-	-	no_errors	GGA2	HGNC	ENSG00000103365	tier1	922	2	0.216450216450216	621	484	43.8009049773756	529	116	17.984496124031
16	23951586	23951586	G	T	SNP	PRKCB	ENST00000303531	human	ensembl	70_37	+1	known	intronic	c.206-48243	e3-48243	0.001	-	-	-	no_errors	PRKCB	HGNC	ENSG00000166501	tier4	399	0	0	704	2	0.28328611898017	277	0	0
16	23956680	23956680	T	C	SNP	PRKCB	ENST00000303531	human	ensembl	70_37	+1	known	intronic	c.206-43149	e3-43149	0.015	-	-	-	no_errors	PRKCB	HGNC	ENSG00000166501	tier3	848	0	0	1253	3	0.238663484486874	398	2	0.498753117206983
16	24682222	24682222	T	C	SNP	FLJ45256	ENST00000414816	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC012317.1	Clone_based_vega_gene	ENSG00000224310	tier3	624	0	0	865	4	0.46029919447641	334	0	0
16	25080210	25080210	A	C	SNP	LOC283887	ENST00000571219	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.002	-	-	-	no_errors	RP11-266L9.5	Clone_based_vega_gene	ENSG00000262155	tier1	369	0	0	557	2	0.357142857142857	181	0	0
16	25080214	25080214	A	C	SNP	LOC283887	ENST00000571219	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.017	-	-	-	no_errors	RP11-266L9.5	Clone_based_vega_gene	ENSG00000262155	tier1	364	0	0	577	2	0.345423143350604	194	1	0.512820512820513
16	25662939	25662939	T	C	SNP	HS3ST4	ENST00000331351	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-40800	NULL	0.000	-	-	-	no_errors	HS3ST4	HGNC	ENSG00000182601	tier3	675	0	0	976	1	0.102249488752556	335	2	0.593471810089021
16	25958789	25958789	C	T	SNP	HS3ST4	ENST00000331351	human	ensembl	70_37	+1	known	intronic	c.735-188144	e2-188144	0.000	-	-	-	no_errors	HS3ST4	HGNC	ENSG00000182601	tier3	470	0	0	335	270	44.6280991735537	267	54	16.8224299065421
16	26813454	26813454	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1414	0	0	1955	2	0.102145045965271	628	0	0
16	26964707	26964707	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	953	0	0	1292	1	0.0773395204949729	405	3	0.728155339805825
16	27174479	27174479	C	A	SNP	ENSG00000261045	ENST00000564381	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.040	-	-	-	no_errors	RP11-673P17.4	Clone_based_vega_gene	ENSG00000261045	tier4	592	0	0	821	4	0.484848484848485	278	2	0.714285714285714
16	28024717	28024717	G	C	SNP	GSG1L	ENST00000447459	human	ensembl	70_37	-1	known	intronic	c.349+49680	e1+49680	0.275	-	-	-	no_errors	GSG1L	HGNC	ENSG00000169181	tier4	336	0	0	615	2	0.324149108589951	204	2	0.970873786407767
16	29592723	29592723	A	T	SNP	ENSG00000205534	ENST00000447140	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.012	-	-	-	no_coding_region:pseudogene	RP11-345J4.8	Clone_based_vega_gene	ENSG00000205534	tier4	1866	0	0	1562	1206	43.5693641618497	695	111	13.7717121588089
16	30749594	30749594	A	G	SNP	SRCAP	ENST00000262518	human	ensembl	70_37	+1	known	missense	c.8233	p.K2745E	1.000	NULL	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	-	no_errors	SRCAP	HGNC	ENSG00000080603	tier1	319	0	0	289	0	0	287	9	3.04
16	31584513	31584513	T	C	SNP	ENSG00000261741	ENST00000565692	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5476	NULL	0.013	-	-	-	no_errors	CTD-2014E2.5	Clone_based_vega_gene	ENSG00000261741	tier4	772	0	0	922	144	13.5084427767355	414	0	0
16	32109490	32109490	G	T	SNP	ENSG00000261727	ENST00000566806	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-13384	NULL	0.056	-	-	-	no_errors	RP11-1166P10.6	Clone_based_vega_gene	ENSG00000261727	tier3	125	0	0	182	3	1.62162162162162	134	2	1.47058823529412
16	32523402	32523402	T	A	SNP	ABCD1P3	ENST00000562927	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-33830	NULL	0.000	-	-	-	no_coding_region:pseudogene	ABCD1P3	HGNC	ENSG00000261233	tier4	3479	0	0	4675	4	0.0854883522120111	1346	2	0.148367952522255
16	32819665	32819665	A	C	SNP	ENSG00000260158	ENST00000569859	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1212	NULL	0.255	-	-	-	no_errors	RP11-67H24.2	Clone_based_vega_gene	ENSG00000260158	tier3	2375	0	0	3135	1	0.0318877551020408	1272	2	0.156494522691706
16	33074096	33074096	T	G	SNP	ENSG00000260141	ENST00000561541	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.121	-	-	-	no_errors	RP11-19N8.4	Clone_based_vega_gene	ENSG00000260141	tier3	1126	0	0	1522	4	0.261951538965291	532	2	0.374531835205993
16	33335803	33335803	C	T	SNP	ENSG00000263277	ENST00000570636	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44159	NULL	0.003	-	-	-	no_coding_region:pseudogene	RP11-293B20.3	Clone_based_vega_gene	ENSG00000263277	tier3	202	0	0	224	6	2.60869565217391	131	4	2.96296296296296
16	33940266	33940266	T	C	SNP	RNA5-8SP2	ENST00000363564	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25160	NULL	0.295	-	-	-	no_errors	RNA5-8SP2	HGNC	ENSG00000200434	tier3	1140	0	0	1542	3	0.194174757281553	774	0	0
16	33969485	33969485	T	G	SNP	ENSG00000260609	ENST00000567668	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-12370	NULL	0.006	-	-	-	no_errors	LINC00273	Clone_based_vega_gene	ENSG00000260609	tier4	866	0	0	1133	2	0.176056338028169	572	2	0.347222222222222
16	33972709	33972709	G	A	SNP	ENSG00000260609	ENST00000567668	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-15594	NULL	0.000	-	-	-	no_errors	LINC00273	Clone_based_vega_gene	ENSG00000260609	tier4	2264	0	0	2977	2	0.0671366230278617	1265	2	0.157109190887667
16	33974527	33974527	G	A	SNP	ENSG00000260609	ENST00000567668	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-17412	NULL	0.000	-	-	-	no_errors	LINC00273	Clone_based_vega_gene	ENSG00000260609	tier4	2188	0	0	2749	2	0.072463768115942	1287	8	0.615384615384615
16	33985371	33985371	G	T	SNP	ENSG00000260609	ENST00000567668	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28256	NULL	0.000	-	-	-	no_errors	LINC00273	Clone_based_vega_gene	ENSG00000260609	tier4	1161	0	0	1508	2	0.132450331125828	702	7	0.987306064880113
16	34649493	34649493	G	A	SNP	ENSG00000260598	ENST00000563581	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-7773	NULL	0.015	-	-	-	no_coding_region:pseudogene	RP11-80F22.13	Clone_based_vega_gene	ENSG00000260598	tier3	802	0	0	892	12	1.32596685082873	291	46	13.4110787172012
16	35228846	35228846	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	548	0	0	714	2	0.279329608938547	219	0	0
16	35238866	35238866	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	241	0	0	353	3	0.842696629213483	23	0	0
16	35239753	35239753	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1322	0	0	1754	3	0.170648464163823	687	2	0.289435600578871
16	35250139	35250139	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	3868	0	0	4823	2	0.0414250207125104	1489	2	0.134138162307176
16	35250265	35250265	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2317	0	0	2815	2	0.07097232079489	874	0	0
16	46390203	46390203	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1395	0	0	1944	2	0.102669404517454	971	0	0
16	46397818	46397818	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1579	0	0	2032	2	0.0982318271119843	874	0	0
16	46400132	46400132	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1736	0	0	2427	3	0.123456790123457	1166	2	0.171232876712329
16	46426544	46426544	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	421	0	0	594	4	0.668896321070234	252	2	0.78740157480315
16	46426550	46426550	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	352	0	0	500	4	0.793650793650794	216	2	0.892857142857143
16	46435878	46435878	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	116	0	0	141	2	1.3986013986014	32	0	0
16	46453848	46453848	G	A	SNP	ANKRD26P1	ENST00000566933	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*49726	NULL	0.000	-	-	-	no_errors	ANKRD26P1	HGNC	ENSG00000261239	tier4	346	0	0	501	6	1.18110236220472	201	4	1.95121951219512
16	47099403	47099403	T	G	SNP	NETO2	ENST00000562435	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*17729	NULL	0.000	-	-	-	no_errors	NETO2	HGNC	ENSG00000171208	tier4	971	0	0	1211	93	7.1319018404908	464	0	0
16	49745165	49745165	G	A	SNP	ZNF423	ENST00000262383	human	ensembl	70_37	-1	known	intronic	c.277+19517	e3+19517	0.000	-	-	-	no_errors	ZNF423	HGNC	ENSG00000102935	tier4	1625	1	0.0614250614250614	1121	862	43.4256926952141	503	125	19.8098256735341
16	50651203	50651203	T	C	SNP	NKD1	ENST00000268459	human	ensembl	70_37	+1	known	intronic	c.260-4310	e5-4310	0.000	-	-	-	no_errors	NKD1	HGNC	ENSG00000140807	tier3	1078	0	0	1438	2	0.138792505204719	604	0	0
16	51494444	51494444	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	958	0	0	1274	2	0.156739811912226	420	0	0
16	51761105	51761105	G	A	SNP	ENSG00000260057	ENST00000563603	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44369	NULL	0.001	-	-	-	no_errors	RP11-7O14.1	Clone_based_vega_gene	ENSG00000260057	tier4	1150	0	0	835	624	42.7690198766278	510	102	16.6666666666667
16	52587597	52587597	C	T	SNP	LOC643714	ENST00000510238	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-297L17.1	Clone_based_vega_gene	ENSG00000249231	tier3	1618	5	0.307881773399015	1054	822	43.816631130064	619	109	14.9725274725275
16	52733588	52733588	C	T	SNP	LOC643714	ENST00000563844	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-47571	NULL	0.023	-	-	-	no_errors	RP11-297L17.1	Clone_based_vega_gene	ENSG00000249231	tier4	1885	6	0.317124735729387	1338	1153	46.2866318747491	448	107	19.2792792792793
16	52865949	52865949	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1068	2	0.186741363211951	748	682	47.6589797344514	393	88	18.2952182952183
16	53026500	53026500	A	G	SNP	ENSG00000261550	ENST00000562178	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*43102	NULL	0.005	-	-	-	no_errors	RP11-467J12.4	Clone_based_vega_gene	ENSG00000261550	tier4	69	0	0	98	8	7.54716981132075	34	0	0
16	54691799	54691799	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	783	0	0	979	34	3.3563672260612	398	2	0.492610837438424
16	55625892	55625892	G	A	SNP	LPCAT2	ENST00000262134	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*8882	NULL	0.020	-	-	-	no_errors	LPCAT2	HGNC	ENSG00000087253	tier4	906	1	0.110132158590308	1131	23	1.99306759098787	440	0	0
16	57495474	57495474	T	G	SNP	ENSG00000260345	ENST00000567090	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC009052.12	Clone_based_vega_gene	ENSG00000260345	tier3	509	0	0	713	1	0.140056022408964	316	2	0.628930817610063
16	57512511	57512511	G	A	SNP	DOK4	ENST00000561918	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	DOK4	HGNC	ENSG00000125170	tier1	342	0	0	456	31	6.36550308008214	199	0	0
16	58287320	58287320	T	A	SNP	CCDC113	ENST00000219299	human	ensembl	70_37	+1	known	intronic	c.228+563	e2+563	0.002	-	-	-	no_errors	CCDC113	HGNC	ENSG00000103021	tier3	947	0	0	1198	18	1.48026315789474	423	94	18.1818181818182
16	58588016	58588016	C	G	SNP	CNOT1	ENST00000317147	human	ensembl	70_37	-1	known	intronic	c.2892-252	e21-252	0.000	-	-	-	no_errors	CNOT1	HGNC	ENSG00000125107	tier3	1200	0	0	1793	5	0.278086763070078	495	0	0
16	60157617	60157617	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1366	0	0	1596	219	12.0528343423225	646	0	0
16	60197182	60197182	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1076	0	0	1393	3	0.214285714285714	376	3	0.78740157480315
16	60533816	60533816	T	A	SNP	ENSG00000261310	ENST00000567862	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.008	-	-	-	no_errors	RP11-354I13.1	Clone_based_vega_gene	ENSG00000261310	tier4	2473	0	0	3334	2	0.0599520383693046	871	2	0.228571428571429
16	60946919	60946919	A	T	SNP	ENSG00000261178	ENST00000563784	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*12718	NULL	0.917	-	-	-	no_coding_region:pseudogene	RP11-90K18.1	Clone_based_vega_gene	ENSG00000261178	tier3	1376	0	0	1726	3	0.173410404624277	699	0	0
16	60990693	60990693	C	A	SNP	ENSG00000261178	ENST00000563784	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28248	NULL	0.001	-	-	-	no_coding_region:pseudogene	RP11-90K18.1	Clone_based_vega_gene	ENSG00000261178	tier3	864	0	0	559	417	42.7254098360656	391	115	22.5490196078431
16	61079427	61079427	G	T	SNP	ENSG00000224631	ENST00000591758	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*9876	NULL	0.039	-	-	-	no_errors	RP11-51O6.1	Clone_based_vega_gene	ENSG00000224631	tier3	1944	0	0	2585	2	0.0772797527047913	745	4	0.534045393858478
16	61301251	61301251	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	817	0	0	496	397	44.4568868980963	308	68	18.0851063829787
16	61484902	61484902	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	950	0	0	632	433	40.6572769953052	399	112	21.875
16	61523493	61523493	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	774	0	0	908	3	0.329308452250274	334	0	0
16	61691937	61691937	A	C	SNP	CDH8	ENST00000577390	human	ensembl	70_37	-1	known	intronic	c.1655-2312	e10-2312	0.000	-	-	-	no_errors	CDH8	HGNC	ENSG00000150394	tier3	682	0	0	880	2	0.226500566251416	326	3	0.911854103343465
16	62001372	62001372	C	A	SNP	CDH8	ENST00000577390	human	ensembl	70_37	-1	known	intronic	c.252+53684	e1+53684	0.007	-	-	-	no_errors	CDH8	HGNC	ENSG00000150394	tier4	1407	0	0	1865	2	0.107123727905731	584	8	1.35135135135135
16	62019030	62019030	C	T	SNP	CDH8	ENST00000577390	human	ensembl	70_37	-1	known	intronic	c.252+36026	e1+36026	0.005	-	-	-	no_errors	CDH8	HGNC	ENSG00000150394	tier3	876	5	0.565610859728507	1107	17	1.50044130626655	376	19	4.81012658227848
16	62202518	62202518	A	G	SNP	RNU6-21	ENST00000384710	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*18926	NULL	0.125	-	-	-	no_errors	RNU6-21	HGNC	ENSG00000207441	tier4	1121	0	0	759	696	47.8350515463918	390	133	25.4302103250478
16	62683776	62683776	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	338	0	0	283	182	39.1397849462366	186	69	27.0588235294118
16	63215812	63215812	G	A	SNP	ENSG00000261199	ENST00000566646	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-837	NULL	0.022	-	-	-	no_coding_region:pseudogene	CTD-2503H21.2	Clone_based_vega_gene	ENSG00000261199	tier4	1294	2	0.153964588144727	810	697	46.2508294625083	512	88	14.4736842105263
16	63559425	63559425	G	T	SNP	ENSG00000260658	ENST00000568932	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.110	-	-	-	no_errors	RP11-368L12.1	Clone_based_vega_gene	ENSG00000260658	tier4	1060	0	0	1278	89	6.50584795321637	555	2	0.35778175313059
16	63965421	63965421	C	A	SNP	ENSG00000261653	ENST00000568699	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-4261	NULL	0.308	-	-	-	no_errors	RP11-21L1.1	Clone_based_vega_gene	ENSG00000261653	tier4	688	1	0.144927536231884	473	420	47.0324748040314	380	95	20
16	64022947	64022947	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	908	2	0.21953896816685	1105	6	0.54005400540054	347	9	2.52808988764045
16	64854464	64854464	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	685	1	0.145772594752187	462	370	44.4711538461538	299	84	21.9321148825065
16	65252035	65252035	G	A	SNP	ENSG00000260834	ENST00000567058	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.960	-	-	-	no_errors	RP11-256I9.2	Clone_based_vega_gene	ENSG00000260834	tier3	1057	0	0	1283	19	1.45929339477727	453	83	15.4850746268657
16	65426402	65426402	A	C	SNP	ENSG00000260364	ENST00000562656	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-256I9.3	Clone_based_vega_gene	ENSG00000260364	tier4	1570	0	0	1993	3	0.150300601202405	660	0	0
16	65543417	65543417	G	T	SNP	LOC283867	ENST00000564041	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-256I9.1	Clone_based_vega_gene	ENSG00000261742	tier4	831	0	0	577	478	45.2651515151515	380	93	19.661733615222
16	65743234	65743234	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	524	0	0	318	284	47.1760797342193	192	59	23.1372549019608
16	66738682	66738682	T	G	SNP	CMTM4	ENST00000330687	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-8254	NULL	0.000	-	-	-	no_errors	CMTM4	HGNC	ENSG00000183723	tier3	580	0	0	900	2	0.221729490022173	295	0	0
16	67066632	67066632	T	G	SNP	CBFB	ENST00000290858	human	ensembl	70_37	+1	known	intronic	c.165+2916	e2+2916	0.000	-	-	-	no_errors	CBFB	HGNC	ENSG00000067955	tier3	721	0	0	1255	2	0.159108989657916	488	2	0.408163265306122
16	67526638	67526638	A	G	SNP	FAM65A	ENST00000422602	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37088	NULL	0.001	-	-	-	no_errors	FAM65A	HGNC	ENSG00000039523	tier4	2318	5	0.215238915195867	2696	1099	28.9515279241307	1106	1	0.0903342366757001
16	71323162	71323162	G	A	SNP	FTSJD1	ENST00000434935	human	ensembl	70_37	-1	known	5_prime_untranslated_region	c.-3339	NULL	0.000	-	-	-	no_errors	FTSJD1	HGNC	ENSG00000180917	tier2	161	0	0	200	19	8.67579908675799	82	0	0
16	72273105	72273105	A	C	SNP	ENSG00000261673	ENST00000563347	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14062	NULL	0.064	-	-	-	no_errors	RP11-328J14.1	Clone_based_vega_gene	ENSG00000261673	tier3	566	0	0	842	2	0.236686390532544	263	0	0
16	73015403	73015403	A	C	SNP	ZFHX3	ENST00000268489	human	ensembl	70_37	-1	known	intronic	c.1-21310	e1-21310	0.000	-	-	-	no_errors	ZFHX3	HGNC	ENSG00000140836	tier3	972	0	0	1479	4	0.269360269360269	494	0	0
16	73634911	73634911	T	A	SNP	ENSG00000260848	ENST00000567227	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42490	NULL	0.000	-	-	-	no_errors	CTD-2009A10.1	Clone_based_vega_gene	ENSG00000260848	tier3	562	0	0	787	4	0.503778337531486	273	0	0
16	74266982	74266982	T	G	SNP	ENSG00000261404	ENST00000562888	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AC009120.4	Clone_based_vega_gene	ENSG00000261404	tier3	839	0	0	1280	3	0.233826968043648	335	1	0.29585798816568
16	75963419	75963419	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	733	0	0	872	1	0.11454753722795	342	2	0.581395348837209
16	77002576	77002576	T	C	SNP	ENSG00000259995	ENST00000567777	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40510	NULL	0.022	-	-	-	no_errors	CTD-2336H13.2	Clone_based_vega_gene	ENSG00000259995	tier3	1400	1	0.0713266761768902	1527	180	10.5386416861827	623	0	0
16	77350894	77350894	G	A	SNP	ADAMTS18	ENST00000282849	human	ensembl	70_37	-1	known	intronic	c.2532+2852	e16+2852	0.001	-	-	-	no_errors	ADAMTS18	HGNC	ENSG00000140873	tier4	916	0	0	607	439	41.8893129770992	445	40	8.14663951120163
16	77545742	77545742	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1215	1	0.0822368421052632	865	749	46.4064436183395	484	147	23.1496062992126
16	77580872	77580872	T	C	SNP	ENSG00000261154	ENST00000563289	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-43831	NULL	0.005	-	-	-	no_errors	RP11-571O6.1	Clone_based_vega_gene	ENSG00000261154	tier3	793	0	0	1095	2	0.182315405651778	384	1	0.25974025974026
16	77609874	77609874	T	G	SNP	ENSG00000261154	ENST00000563289	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14829	NULL	0.000	-	-	-	no_errors	RP11-571O6.1	Clone_based_vega_gene	ENSG00000261154	tier4	490	0	0	660	2	0.301204819277108	304	0	0
16	78492529	78492529	A	C	SNP	WWOX	ENST00000566780	human	ensembl	70_37	+1	known	intronic	c.1056+25880	e8+25880	0.000	-	-	-	no_errors	WWOX	HGNC	ENSG00000186153	tier4	1707	0	0	2284	1	0.0437636761487965	705	4	0.564174894217207
16	78873723	78873723	C	T	SNP	WWOX	ENST00000566780	human	ensembl	70_37	+1	known	intronic	c.1057-371782	e9-371782	0.000	-	-	-	no_errors	WWOX	HGNC	ENSG00000186153	tier3	1663	0	0	2285	21	0.910667823070251	540	94	14.6875
16	79016058	79016058	T	A	SNP	WWOX	ENST00000566780	human	ensembl	70_37	+1	known	intronic	c.1057-229447	e9-229447	0.000	-	-	-	no_errors	WWOX	HGNC	ENSG00000186153	tier3	714	0	0	870	3	0.342465753424658	372	2	0.53475935828877
16	79332185	79332185	A	C	SNP	RNA5SP431	ENST00000410312	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*33715	NULL	0.000	-	-	-	no_errors	RNA5SP431	HGNC	ENSG00000222244	tier4	784	0	0	1023	3	0.292397660818713	386	1	0.258397932816537
16	79785388	79785388	G	T	SNP	ENSG00000260876	ENST00000561510	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-345M22.1	Clone_based_vega_gene	ENSG00000260876	tier3	644	0	0	884	3	0.337837837837838	345	0	0
16	82622734	82622734	C	T	SNP	CDH13	ENST00000566620	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37964	NULL	0.028	-	-	-	no_errors	CDH13	HGNC	ENSG00000140945	tier4	891	1	0.112107623318386	616	599	49.2598684210526	187	40	17.6211453744493
16	83421458	83421458	A	G	SNP	CDH13	ENST00000566620	human	ensembl	70_37	+1	known	intronic	c.781+42847	e6+42847	0.000	-	-	-	no_errors	CDH13	HGNC	ENSG00000140945	tier3	720	0	0	521	413	44.2184154175589	343	58	14.4638403990025
16	83546500	83546500	A	C	SNP	CDH13	ENST00000566620	human	ensembl	70_37	+1	known	intronic	c.960+26240	e7+26240	0.001	-	-	-	no_errors	CDH13	HGNC	ENSG00000140945	tier4	1020	0	0	1418	2	0.140845070422535	432	3	0.689655172413793
16	86260203	86260203	A	G	SNP	ENSG00000268754	ENST00000597373	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-514D23.2	Clone_based_vega_gene	ENSG00000268754	tier3	345	0	0	411	2	0.484261501210654	191	0	0
16	86383486	86383486	C	T	SNP	LOC732275	ENST00000304488	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4201	NULL	0.001	-	-	-	no_errors	RP11-158I3.2	Clone_based_vega_gene	ENSG00000168367	tier3	1170	0	0	722	648	47.2992700729927	576	75	11.4854517611026
16	86786869	86786869	A	C	SNP	ENSG00000260026	ENST00000563331	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31309	NULL	0.000	-	-	-	no_errors	CTD-2015G9.1	Clone_based_vega_gene	ENSG00000260026	tier3	548	0	0	665	3	0.448430493273543	298	1	0.334448160535117
16	87696031	87696031	A	G	SNP	JPH3	ENST00000284262	human	ensembl	70_37	+1	known	intronic	c.1160+17390	e2+17390	0.091	-	-	-	no_errors	JPH3	HGNC	ENSG00000154118	tier3	744	0	0	1082	3	0.271985494106981	411	0	0
16	88310228	88310228	G	A	SNP	ENSG00000261273	ENST00000563190	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	LA16c-444G7.1	Clone_based_vega_gene	ENSG00000261273	tier2	425	0	0	311	276	46.9387755102041	257	37	12.5850340136054
16	89793742	89793742	C	T	SNP	ZNF276	ENST00000443381	human	ensembl	70_37	+1	known	silent	c.1062	p.D354	1.000	NULL	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	-	no_errors	ZNF276	HGNC	ENSG00000158805	tier1	1259	0	0	2018	3	0.148367952522255	576	94	13.946587537092
17	3142038	3142038	A	C	SNP	OR1D4	ENST00000531680	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1932	NULL	0.014	-	-	-	no_errors	OR1D4	HGNC	ENSG00000255095	tier2	1175	0	0	1588	2	0.125786163522013	607	0	0
17	3603220	3603220	G	A	SNP	GSG2	ENST00000325418	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24010	NULL	0.018	-	-	-	no_errors	GSG2	HGNC	ENSG00000177602	tier4	78	0	0	116	3	2.52100840336134	40	0	0
17	5147063	5147063	G	A	SNP	LOC100130950	ENST00000573772	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.011	-	-	-	no_errors	RP11-333E1.1	Clone_based_vega_gene	ENSG00000261879	tier4	1061	0	0	1806	4	0.22075055187638	550	1	0.179533213644524
17	5717781	5717781	G	A	SNP	WSCD1	ENST00000563763	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	WSCD1	HGNC	ENSG00000179314	tier4	1955	1	0.0510986203372509	1921	899	31.8455543747786	541	4	0.73394495412844
17	5889143	5889143	A	C	SNP	WSCD1	ENST00000573619	human	ensembl	70_37	+1	known	intronic	c.1-4107	e1-4107	0.017	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	WSCD1	HGNC	ENSG00000179314	tier4	2005	0	0	2863	2	0.0697350069735007	865	0	0
17	5922331	5922331	C	T	SNP	WSCD1	ENST00000573619	human	ensembl	70_37	+1	known	intronic	c.1+28990	e0+28990	0.003	-	-	-	no_stop_codon:bad_bp_length_for_coding_region	WSCD1	HGNC	ENSG00000179314	tier4	1229	0	0	839	838	49.9701848539058	509	135	20.7055214723926
17	7577142	7577142	C	T	SNP	TP53	ENST00000269305	human	ensembl	70_37	-1	known	missense	c.796	p.G266R	1.000	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510	tier1	162	1	0.61	160	0	0	137	10	6.8
17	8563111	8563111	A	C	SNP	MYH10	ENST00000396239	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-36547	NULL	0.002	-	-	-	no_errors	MYH10	HGNC	ENSG00000133026	tier4	699	0	0	973	3	0.307062436028659	325	4	1.21580547112462
17	9728973	9728973	G	C	SNP	GLP2R	ENST00000262441	human	ensembl	70_37	+1	known	5_prime_untranslated_region	c.-408	NULL	0.000	-	-	-	no_errors	GLP2R	HGNC	ENSG00000065325	tier2	718	0	0	1160	4	0.342172797262618	370	1	0.268096514745308
17	10010097	10010097	G	T	SNP	GAS7	ENST00000432992	human	ensembl	70_37	-1	known	intronic	c.184-86883	e2-86883	0.000	-	-	-	no_errors	GAS7	HGNC	ENSG00000007237	tier4	757	0	0	1214	3	0.246507806080526	310	0	0
17	10253041	10253041	G	A	SNP	MYH13	ENST00000252172	human	ensembl	70_37	-1	known	intronic	c.1144+832	e10+832	0.000	-	-	-	no_errors	MYH13	HGNC	ENSG00000006788	tier4	1586	0	0	1289	954	42.5133689839572	703	137	16.3095238095238
17	10797071	10797071	A	G	SNP	ENSG00000207242	ENST00000384513	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-35750	NULL	0.000	-	-	-	no_errors	U6	RFAM	ENSG00000207242	tier4	551	0	0	760	2	0.262123197903014	325	0	0
17	11481310	11481310	T	A	SNP	DNAH9	ENST00000262442	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20506	NULL	0.007	-	-	-	no_errors	DNAH9	HGNC	ENSG00000007174	tier4	2230	0	0	3019	2	0.0661813368630046	538	0	0
17	12171196	12171196	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	880	0	0	1160	2	0.172117039586919	403	6	1.46699266503667
17	12392767	12392767	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	898	0	0	1189	3	0.251677852348993	381	0	0
17	12971287	12971287	G	T	SNP	ELAC2	ENST00000338034	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-50023	NULL	0.056	-	-	-	no_errors	ELAC2	HGNC	ENSG00000006744	tier4	150	0	0	214	2	0.925925925925926	114	10	8.06451612903226
17	13124696	13124696	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2331	0	0	3116	4	0.128205128205128	808	0	0
17	13169954	13169954	A	C	SNP	ENSG00000234634	ENST00000440522	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*32547	NULL	0.000	-	-	-	no_errors	AC003664.1	Clone_based_vega_gene	ENSG00000234634	tier2	1011	0	0	1411	2	0.141542816702052	523	0	0
17	13192115	13192115	T	G	SNP	ENSG00000234634	ENST00000440522	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*10386	NULL	0.099	-	-	-	no_errors	AC003664.1	Clone_based_vega_gene	ENSG00000234634	tier4	827	0	0	1043	2	0.191387559808612	387	4	1.02040816326531
17	13445955	13445955	G	C	SNP	HS3ST3A1	ENST00000284110	human	ensembl	70_37	-1	known	intronic	c.600-45820	e2-45820	0.006	-	-	-	no_errors	HS3ST3A1	HGNC	ENSG00000153976	tier2	415	0	0	567	2	0.350262697022767	238	1	0.4149377593361
17	13600385	13600385	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	733	0	0	574	475	45.2812202097235	295	90	23.1362467866324
17	13797540	13797540	G	A	SNP	LOC100506974	ENST00000577798	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-1378	NULL	0.263	-	-	-	no_errors	AC015842.1	Clone_based_vega_gene	ENSG00000236088	tier4	417	0	0	587	1	0.170068027210884	270	4	1.45985401459854
17	15480518	15480518	A	G	SNP	ENSG00000251537	ENST00000455584	human	ensembl	70_37	-1	novel	intronic	c.2778-3021	e17-3021	0.164	-	-	-	no_errors	TRIM16	Uniprot_genename	ENSG00000251537	tier2	1173	0	0	1737	2	0.114942528735632	528	0	0
17	15737009	15737009	A	G	SNP	ENSG00000227790	ENST00000421102	human	ensembl	70_37	+1	known	splice_region	c.NULL	NULL	0.000	-	-	-	no_coding_region:pseudogene	AC015922.5	Clone_based_vega_gene	ENSG00000227790	tier2	1002	0	0	1512	6	0.394477317554241	481	2	0.41407867494824
17	19187310	19187310	T	G	SNP	EPN2	ENST00000314728	human	ensembl	70_37	+1	known	intronic	c.595+283	e1+283	0.000	-	-	-	no_errors	EPN2	HGNC	ENSG00000072134	tier2	481	0	0	800	4	0.497512437810945	286	3	1.03806228373702
17	19424440	19424440	C	T	SNP	SLC47A1	ENST00000584348	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.395	-	-	-	no_errors	SLC47A1	HGNC	ENSG00000142494	tier4	991	0	0	1577	2	0.12666244458518	651	0	0
17	21153288	21153288	C	A	SNP	C17orf103	ENST00000399011	human	ensembl	70_37	-1	known	intronic	c.103+3184	e2+3184	0.000	-	-	-	no_errors	C17orf103	HGNC	ENSG00000154035	tier2	557	1	0.17921146953405	441	353	44.4584382871537	297	59	16.5730337078652
17	21297099	21297099	C	T	SNP	KCNJ12	ENST00000583088	human	ensembl	70_37	+1	known	intronic	c.1-14732	e1-14732	0.001	-	-	-	no_errors	KCNJ12	HGNC	ENSG00000184185	tier2	496	0	0	465	138	22.8855721393035	245	0	0
17	22247258	22247258	C	A	SNP	ENSG00000264970	ENST00000578745	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*42246	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-846F4.11	Clone_based_vega_gene	ENSG00000264970	tier4	1734	6	0.344629523262493	3168	4	0.126023944549464	1312	34	2.5260029717682
17	22256736	22256736	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1577	0	0	2447	2	0.0816659861167824	1356	0	0
17	25264138	25264138	A	T	SNP	ENSG00000263433	ENST00000580677	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44582	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-260A9.1	Clone_based_vega_gene	ENSG00000263433	tier4	743	0	0	893	2	0.223214285714286	333	0	0
17	25273194	25273194	C	T	SNP	ENSG00000263433	ENST00000580677	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35526	NULL	0.195	-	-	-	no_coding_region:pseudogene	RP11-260A9.1	Clone_based_vega_gene	ENSG00000263433	tier2	3167	0	0	3880	3	0.0772399588053553	1505	0	0
17	25277387	25277387	A	G	SNP	ENSG00000263433	ENST00000580677	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31333	NULL	0.014	-	-	-	no_coding_region:pseudogene	RP11-260A9.1	Clone_based_vega_gene	ENSG00000263433	tier2	1724	7	0.404157043879908	1970	6	0.303643724696356	890	27	2.94438386041439
17	26316098	26316098	A	G	SNP	ENSG00000260019	ENST00000567574	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-14849	NULL	0.055	-	-	-	no_errors	RP11-218F4.1	Clone_based_vega_gene	ENSG00000260019	tier2	1967	0	0	1637	1260	43.4932688988609	729	168	18.6874304783092
17	27366635	27366635	T	C	SNP	PIPOX	ENST00000577182	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.028	-	-	-	no_errors	PIPOX	HGNC	ENSG00000179761	tier4	582	0	0	819	7	0.847457627118644	229	0	0
17	28043959	28043959	C	T	SNP	SSH2	ENST00000269033	human	ensembl	70_37	-1	known	intronic	c.108-13879	e3-13879	0.296	-	-	-	no_errors	SSH2	HGNC	ENSG00000141298	tier4	1129	0	0	962	697	42.0132610006028	483	92	15.8620689655172
17	28833820	28833820	G	T	SNP	GOSR1	ENST00000225724	human	ensembl	70_37	+1	known	intronic	c.516-4078	e7-4078	0.033	-	-	-	no_errors	GOSR1	HGNC	ENSG00000108587	tier4	676	1	0.147492625368732	534	468	46.7065868263473	360	72	16.5898617511521
17	31406656	31406656	G	A	SNP	ASIC2	ENST00000225823	human	ensembl	70_37	-1	known	intronic	c.987+9225	e3+9225	0.000	-	-	-	no_errors	ASIC2	HGNC	ENSG00000108684	tier4	1902	2	0.10498687664042	1298	1015	43.8255613126079	614	142	18.6842105263158
17	34140648	34140648	C	G	SNP	TAF15	ENST00000588240	human	ensembl	70_37	+1	known	intronic	c.7+4068	e1+4068	0.001	-	-	-	no_errors	TAF15	HGNC	ENSG00000172660	tier4	800	0	0	1173	10	0.84530853761623	377	3	0.769230769230769
17	35129866	35129866	A	C	SNP	ENSG00000267785	ENST00000591939	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*47215	NULL	0.015	-	-	-	no_errors	CTD-3194G12.2	Clone_based_vega_gene	ENSG00000267785	tier4	1227	0	0	1678	2	0.119047619047619	467	3	0.638297872340425
17	37596233	37596233	A	G	SNP	MED1	ENST00000300651	human	ensembl	70_37	-1	known	intronic	c.399+406	e5+406	0.005	-	-	-	no_errors	MED1	HGNC	ENSG00000125686	tier4	64	0	0	110	2	1.78571428571429	19	0	0
17	39598245	39598245	T	A	SNP	KRT38	ENST00000246646	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-1072	NULL	0.000	-	-	-	no_errors	KRT38	HGNC	ENSG00000171360	tier4	973	0	0	1549	3	0.193174500965873	378	2	0.526315789473684
17	39877028	39877028	T	G	SNP	JUP	ENST00000540235	human	ensembl	70_37	-1	known	intronic	c.909+46603	e4+46603	0.213	-	-	-	no_errors	JUP	HGNC	ENSG00000173801	tier4	607	0	0	893	2	0.223463687150838	315	0	0
17	41003307	41003307	G	A	SNP	AOC3	ENST00000308423	human	ensembl	70_37	+1	known	5_prime_untranslated_region	c.-54	NULL	0.000	-	-	-	no_errors	AOC3	HGNC	ENSG00000131471	tier2	601	0	0	445	432	49.2027334851936	331	70	17.4563591022444
17	41400764	41400764	C	G	SNP	TMEM106A-AS1	ENST00000427995	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24218	NULL	0.076	-	-	-	no_errors	TMEM106A-AS1	HGNC	ENSG00000236383	tier4	1676	0	0	2934	2	0.0679347826086957	1300	0	0
17	41412776	41412776	C	T	SNP	TMEM106A-AS1	ENST00000427995	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-36230	NULL	0.430	-	-	-	no_errors	TMEM106A-AS1	HGNC	ENSG00000236383	tier4	327	0	0	300	228	43.1818181818182	179	48	21.1453744493392
17	41933219	41933219	T	A	SNP	CD300LG	ENST00000317310	human	ensembl	70_37	+1	known	intronic	c.832+532	e5+532	0.009	-	-	-	no_errors	CD300LG	HGNC	ENSG00000161649	tier4	475	0	0	772	2	0.258397932816537	306	0	0
17	42647366	42647366	T	G	SNP	FZD2	ENST00000315323	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*10612	NULL	0.125	-	-	-	no_errors	FZD2	HGNC	ENSG00000180340	tier4	456	0	0	669	4	0.594353640416048	330	1	0.302114803625378
17	45578141	45578141	C	T	SNP	NPEPPS	ENST00000322157	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30526	NULL	0.912	-	-	-	no_errors	NPEPPS	HGNC	ENSG00000141279	tier2	803	3	0.372208436724566	731	436	37.2968349016253	480	84	14.8148148148148
17	46679350	46679350	T	G	SNP	HOXB6	ENST00000225648	human	ensembl	70_37	-1	known	intronic	c.1+2492	e0+2492	0.430	-	-	-	no_errors	HOXB6	HGNC	ENSG00000108511	tier2	1052	0	0	1570	5	0.317258883248731	497	3	0.6
17	47264227	47264227	G	A	SNP	ABI3	ENST00000225941	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23860	NULL	0.755	-	-	-	no_errors	ABI3	HGNC	ENSG00000108798	tier4	2794	0	0	4444	3	0.0674612098043625	891	3	0.334448160535117
17	49334103	49334103	C	A	SNP	MBTD1	ENST00000593259	human	ensembl	70_37	-1	putative	rna	NULL	NULL	0.003	-	-	-	no_errors	MBTD1	HGNC	ENSG00000011258	tier1	629	0	0	933	2	0.213903743315508	343	0	0
17	49787810	49787810	C	A	SNP	CA10	ENST00000340813	human	ensembl	70_37	-1	known	intronic	c.483+37183	e4+37183	0.000	-	-	-	no_errors	CA10	HGNC	ENSG00000154975	tier2	686	0	0	511	403	44.0919037199125	281	47	14.3292682926829
17	50331869	50331869	G	A	SNP	ENSG00000252109	ENST00000516300	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-28162	NULL	0.001	-	-	-	no_errors	snoZ178	RFAM	ENSG00000252109	tier4	1754	0	0	2253	27	1.18369136343709	561	130	18.7590187590188
17	50795613	50795613	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1499	0	0	1045	708	40.3648802736602	575	100	14.8148148148148
17	50984680	50984680	G	T	SNP	ENSG00000226364	ENST00000412360	human	ensembl	70_37	+1	putative	3_prime_flanking_region	c.*7977	NULL	0.000	-	-	-	no_errors	AC102948.2	Clone_based_vega_gene	ENSG00000226364	tier4	1600	0	0	2120	4	0.188323917137476	586	3	0.500834724540901
17	51895187	51895187	C	G	SNP	KIF2B	ENST00000268919	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5208	NULL	0.000	-	-	-	no_errors	KIF2B	HGNC	ENSG00000141200	tier2	1202	0	0	992	460	31.6804407713499	552	0	0
17	51954352	51954352	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1538	0	0	1100	857	43.791517629024	654	132	16.793893129771
17	52061139	52061139	C	T	SNP	ENSG00000263189	ENST00000574529	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*28454	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-618P13.1	Clone_based_vega_gene	ENSG00000263189	tier2	622	0	0	404	347	46.2050599201065	275	65	19.1176470588235
17	52971572	52971572	A	C	SNP	TOM1L1	ENST00000575882	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6655	NULL	0.001	-	-	-	no_errors	TOM1L1	HGNC	ENSG00000141198	tier2	610	0	0	783	2	0.254777070063694	263	3	1.11940298507463
17	53330142	53330142	T	G	SNP	HLF	ENST00000226067	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12704	NULL	0.004	-	-	-	no_errors	HLF	HGNC	ENSG00000108924	tier2	551	0	0	745	1	0.134048257372654	299	2	0.655737704918033
17	53345950	53345950	T	G	SNP	HLF	ENST00000226067	human	ensembl	70_37	+1	known	intronic	c.451+503	e2+503	0.000	-	-	-	no_errors	HLF	HGNC	ENSG00000108924	tier2	1512	0	0	2051	3	0.145985401459854	688	0	0
17	53630094	53630094	T	C	SNP	ENSG00000236319	ENST00000455347	human	ensembl	70_37	-1	putative	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	CTD-2033D24.2	Clone_based_vega_gene	ENSG00000236319	tier4	1555	0	0	1970	2	0.101419878296146	772	0	0
17	53783870	53783870	C	T	SNP	PCTP	ENST00000268896	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44595	NULL	0.000	-	-	-	no_errors	PCTP	HGNC	ENSG00000141179	tier4	1271	1	0.0786163522012579	1671	1	0.0598086124401914	577	30	4.94233937397035
17	54008746	54008746	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1930	0	0	1366	1042	43.2365145228216	600	150	19.9468085106383
17	54121837	54121837	A	T	SNP	ENSG00000264277	ENST00000579668	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-10311	NULL	0.000	-	-	-	no_errors	AC011073.1	Clone_based_ensembl_gene	ENSG00000264277	tier4	1142	0	0	829	693	45.5321944809461	507	129	20.2830188679245
17	54360062	54360062	C	A	SNP	ANKFN1	ENST00000318698	human	ensembl	70_37	+1	known	intronic	c.63-43520	e3-43520	0.007	-	-	-	no_errors	ANKFN1	HGNC	ENSG00000153930	tier2	1212	2	0.164744645799012	852	734	46.2507876496534	485	120	19.7693574958814
17	56391776	56391776	C	T	SNP	BZRAP1	ENST00000355701	human	ensembl	70_37	-1	known	intronic	c.2098+1608	e16+1608	0.002	-	-	-	no_errors	BZRAP1	HGNC	ENSG00000005379	tier4	899	0	0	713	578	44.7368421052632	420	104	19.8473282442748
17	57578531	57578531	G	A	SNP	ENSG00000265313	ENST00000577478	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.283	-	-	-	no_errors	RP11-567L7.6	Clone_based_vega_gene	ENSG00000265313	tier2	2282	0	0	3716	2	0.05372011818426	988	2	0.200803212851406
17	58848608	58848608	C	T	SNP	BCAS3	ENST00000390652	human	ensembl	70_37	+1	known	intronic	c.403+23968	e5+23968	0.001	-	-	-	no_errors	BCAS3	HGNC	ENSG00000141376	tier2	963	0	0	1425	4	0.27972027972028	574	2	0.345423143350604
17	59037629	59037629	T	A	SNP	BCAS3	ENST00000390652	human	ensembl	70_37	+1	known	intronic	c.1221+12916	e13+12916	0.000	-	-	-	no_errors	BCAS3	HGNC	ENSG00000141376	tier4	948	1	0.105374077976818	673	596	46.9661150512214	395	105	21
17	59871899	59871899	T	G	SNP	BRIP1	ENST00000259008	human	ensembl	70_37	-1	known	intronic	c.1341-809	e9-809	0.008	-	-	-	no_errors	BRIP1	HGNC	ENSG00000136492	tier4	459	0	0	634	2	0.313971742543171	275	0	0
17	63133173	63133173	G	A	SNP	RGS9	ENST00000262406	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-486	NULL	0.000	-	-	-	no_errors	RGS9	HGNC	ENSG00000108370	tier2	1635	10	0.606060606060606	2112	207	8.91472868217054	718	6	0.826446280991736
17	63928492	63928492	C	T	SNP	CEP112	ENST00000392769	human	ensembl	70_37	-1	known	intronic	c.1873-4685	e18-4685	0.127	-	-	-	no_errors	CEP112	HGNC	ENSG00000154240	tier4	1195	6	0.499168053244592	1518	1	0.0658327847267939	496	87	14.8717948717949
17	64345662	64345662	G	A	SNP	PRKCA	ENST00000413366	human	ensembl	70_37	+1	known	intronic	c.205+43417	e2+43417	0.937	-	-	-	no_errors	PRKCA	HGNC	ENSG00000154229	tier2	1090	0	0	863	615	41.6102841677943	496	89	15.2136752136752
17	65444628	65444628	A	C	SNP	PITPNC1	ENST00000335257	human	ensembl	70_37	+1	known	intronic	c.48+70310	e1+70310	0.013	-	-	-	no_errors	PITPNC1	HGNC	ENSG00000154217	tier2	451	0	0	754	1	0.132450331125828	289	2	0.687285223367698
17	65861560	65861560	T	G	SNP	BPTF	ENST00000321892	human	ensembl	70_37	+1	known	intronic	c.1437-1020	e3-1020	0.000	-	-	-	no_errors	BPTF	HGNC	ENSG00000171634	tier4	639	0	0	944	2	0.211416490486258	354	0	0
17	66345447	66345447	G	A	SNP	ARSG	ENST00000448504	human	ensembl	70_37	+1	known	intronic	c.454+2134	e3+2134	0.035	-	-	-	no_errors	ARSG	HGNC	ENSG00000141337	tier4	807	0	0	1048	6	0.569259962049336	414	1	0.240963855421687
17	67356669	67356669	A	G	SNP	ABCA5	ENST00000392677	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-46113	NULL	0.132	-	-	-	no_errors	ABCA5	HGNC	ENSG00000154265	tier4	645	0	0	916	2	0.217864923747277	379	0	0
17	67372322	67372322	T	C	SNP	ABCA5	ENST00000392677	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-61766	NULL	0.000	-	-	-	no_errors	ABCA5	HGNC	ENSG00000154265	tier2	1046	0	0	1431	1	0.0698324022346369	519	2	0.383877159309021
17	68586778	68586778	G	A	SNP	ENSG00000267471	ENST00000585581	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*38280	NULL	0.020	-	-	-	no_coding_region:pseudogene	RP11-1058G23.1	Clone_based_vega_gene	ENSG00000267471	tier2	520	0	0	369	283	43.3384379785605	205	39	15.8536585365854
17	69330105	69330105	G	A	SNP	ENSG00000238759	ENST00000459033	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-35746	NULL	0.020	-	-	-	no_errors	U7	RFAM	ENSG00000238759	tier2	1021	0	0	738	589	44.3858327053504	431	86	16.6344294003868
17	70000092	70000092	G	A	SNP	ENSG00000267893	ENST00000602013	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36373	NULL	0.090	-	-	-	no_errors	AC007461.1	Clone_based_ensembl_gene	ENSG00000267893	tier2	1085	1	0.0919963201471941	713	614	46.2697814619442	450	84	15.7303370786517
17	70085775	70085775	T	C	SNP	ENSG00000226101	ENST00000419257	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.323	-	-	-	no_errors	AC007461.2	Clone_based_vega_gene	ENSG00000226101	tier1	511	0	0	684	2	0.291545189504373	229	0	0
17	70349653	70349653	A	G	SNP	ENSG00000264026	ENST00000577573	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.092	-	-	-	no_errors	RP11-1124B17.1	Clone_based_vega_gene	ENSG00000264026	tier2	704	0	0	972	13	1.31979695431472	276	61	18.1008902077151
17	70430242	70430242	T	A	SNP	LINC00511	ENST00000453722	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.008	-	-	-	no_errors	LINC00511	HGNC	ENSG00000227036	tier4	488	0	0	598	5	0.829187396351575	320	0	0
17	72062636	72062636	A	C	SNP	ENSG00000266357	ENST00000581028	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.042	-	-	-	no_errors	RP11-101O21.1	Clone_based_vega_gene	ENSG00000266357	tier2	502	0	0	695	2	0.286944045911047	241	2	0.823045267489712
17	79620661	79620661	C	T	SNP	PDE6G	ENST00000331056	human	ensembl	70_37	-1	known	intronic	c.1-267	e1-267	0.002	-	-	-	no_errors	PDE6G	HGNC	ENSG00000185527	tier3	384	0	0	317	229	41.9413919413919	202	26	11.4035087719298
17	80359454	80359454	T	G	SNP	OGFOD3	ENST00000329197	human	ensembl	70_37	-1	known	intronic	c.699+2359	e7+2359	0.001	-	-	-	no_errors	OGFOD3	HGNC	ENSG00000181396	tier4	720	0	0	1209	2	0.164880461665293	340	0	0
17	81060057	81060057	C	A	SNP	ENSG00000262898	ENST00000572343	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31843	NULL	0.991	-	-	-	no_errors	AC139099.4	Clone_based_vega_gene	ENSG00000262898	tier3	172	0	0	236	2	0.840336134453781	97	2	2.02020202020202
18	207919	207919	G	A	SNP	USP14	ENST00000261601	human	ensembl	70_37	+1	known	intronic	c.1165-2052	e14-2052	0.111	-	-	-	no_errors	USP14	HGNC	ENSG00000101557	tier4	1075	1	0.0927643784786642	808	615	43.1578947368421	482	91	15.7712305025997
18	801387	801387	C	A	SNP	YES1	ENST00000314574	human	ensembl	70_37	-1	known	intronic	c.1+10728	e0+10728	0.000	-	-	-	no_errors	YES1	HGNC	ENSG00000176105	tier2	785	0	0	1153	4	0.345721694036301	420	4	0.943396226415094
18	2144264	2144264	A	G	SNP	ENSG00000263745	ENST00000579097	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.160	-	-	-	no_errors	RP11-161I6.2	Clone_based_vega_gene	ENSG00000263745	tier4	842	1	0.118483412322275	589	485	45.0743494423792	403	81	16.7355371900826
18	2354474	2354474	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	572	0	0	846	2	0.235849056603774	297	1	0.335570469798658
18	3228339	3228339	A	G	SNP	ENSG00000265399	ENST00000580139	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.005	-	-	-	no_errors	RP13-270P17.2	Clone_based_vega_gene	ENSG00000265399	tier4	389	0	0	586	3	0.509337860780985	227	0	0
18	4276170	4276170	A	G	SNP	DLGAP1	ENST00000315677	human	ensembl	70_37	-1	known	intronic	c.1-124883	e1-124883	0.000	-	-	-	no_errors	DLGAP1	HGNC	ENSG00000170579	tier2	465	0	0	675	2	0.278164116828929	162	1	0.571428571428571
18	4594198	4594198	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1085	2	0.183823529411765	712	520	42.1393841166937	504	99	16.4179104477612
18	4648310	4648310	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	942	0	0	594	457	43.4823977164605	334	78	18.9320388349515
18	5284723	5284723	A	G	SNP	ENSG00000264254	ENST00000579113	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25672	NULL	0.000	-	-	-	no_errors	CTD-3096M3.1	Clone_based_vega_gene	ENSG00000264254	tier2	1197	0	0	1490	1	0.0670690811535882	431	4	0.919540229885057
18	5708824	5708824	C	G	SNP	LOC645355	ENST00000562452	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-39994	NULL	0.000	-	-	-	no_errors	RP11-945C19.1	Clone_based_vega_gene	ENSG00000261738	tier4	1353	0	0	957	748	43.8709677419355	513	118	18.7004754358162
18	5886290	5886290	G	T	SNP	ENSG00000264449	ENST00000577694	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1327	NULL	0.001	-	-	-	no_errors	RP11-945C19.4	Clone_based_vega_gene	ENSG00000264449	tier2	788	0	0	601	446	42.5978987583572	365	71	16.2844036697248
18	6456019	6456019	T	C	SNP	L3MBTL4	ENST00000284898	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-144395	NULL	0.001	-	-	-	no_errors	L3MBTL4	HGNC	ENSG00000154655	tier4	1165	0	0	1574	4	0.253485424588086	590	1	0.169204737732657
18	6936710	6936710	T	G	SNP	LINC00668	ENST00000578278	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-9721	NULL	0.047	-	-	-	no_errors	LINC00668	HGNC	ENSG00000265933	tier2	802	0	0	1024	2	0.194931773879142	439	2	0.453514739229025
18	8350892	8350892	A	C	SNP	PTPRM	ENST00000400060	human	ensembl	70_37	+1	known	intronic	c.3057+7374	e23+7374	0.038	-	-	-	no_errors	PTPRM	HGNC	ENSG00000173482	tier4	459	0	0	595	2	0.33500837520938	263	0	0
18	9468838	9468838	T	G	SNP	RALBP1	ENST00000019317	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-44206	NULL	0.066	-	-	-	no_errors	RALBP1	HGNC	ENSG00000017797	tier4	992	0	0	1493	3	0.200400801603206	425	2	0.468384074941452
18	11746017	11746017	T	G	SNP	ENSG00000267333	ENST00000592770	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*11746017	NULL	1.000	-	-	-	no_coding_region:pseudogene	RP11-677O4.7	Clone_based_vega_gene	ENSG00000267333	tier2	1529	0	0	2165	3	0.138376383763838	639	0	0
18	13808412	13808412	A	G	SNP	MC5R	ENST00000324750	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17353	NULL	0.001	-	-	-	no_errors	MC5R	HGNC	ENSG00000176136	tier2	438	0	0	314	261	45.3913043478261	182	62	25.4098360655738
18	14949673	14949673	A	C	SNP	ENSG00000266554	ENST00000584531	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP11-527H14.2	Clone_based_vega_gene	ENSG00000266554	tier2	259	0	0	335	3	0.887573964497041	119	1	0.833333333333333
18	15331327	15331327	G	A	SNP	LOC644669	ENST00000455308	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-1065	NULL	0.060	-	-	-	no_errors	AP005901.1	Clone_based_vega_gene	ENSG00000215512	tier2	208	2	0.943396226415094	252	36	12.4567474048443	112	2	1.75438596491228
18	18515191	18515191	A	G	SNP	ROCK1	ENST00000399799	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*16154	NULL	0.000	-	-	-	no_errors	ROCK1	HGNC	ENSG00000067900	tier4	192	0	0	271	2	0.732600732600733	110	6	5.17241379310345
18	18515861	18515861	A	C	SNP	ROCK1	ENST00000399799	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*15484	NULL	0.000	-	-	-	no_errors	ROCK1	HGNC	ENSG00000067900	tier4	1313	0	0	1991	3	0.150375939849624	864	0	0
18	18515897	18515897	C	T	SNP	ROCK1	ENST00000399799	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*15448	NULL	0.000	-	-	-	no_errors	ROCK1	HGNC	ENSG00000067900	tier4	824	0	0	1271	2	0.156862745098039	522	0	0
18	18516513	18516513	A	G	SNP	ROCK1	ENST00000399799	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14832	NULL	0.000	-	-	-	no_errors	ROCK1	HGNC	ENSG00000067900	tier4	790	0	0	1120	3	0.267141585040071	509	0	0
18	18516785	18516785	G	A	SNP	ROCK1	ENST00000399799	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14560	NULL	0.000	-	-	-	no_errors	ROCK1	HGNC	ENSG00000067900	tier4	143	0	0	181	4	2.16216216216216	32	1	2.85714285714286
18	18517018	18517018	T	C	SNP	ROCK1	ENST00000399799	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14327	NULL	0.000	-	-	-	no_errors	ROCK1	HGNC	ENSG00000067900	tier4	1055	0	0	1572	3	0.190355329949239	376	0	0
18	18527191	18527191	A	C	SNP	ENSG00000260263	ENST00000564351	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.370	-	-	-	no_errors	RP11-666N19.1	Clone_based_vega_gene	ENSG00000260263	tier1	2260	0	0	3481	2	0.057372346528973	1090	0	0
18	18798887	18798887	A	C	SNP	GREB1L	ENST00000424526	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-164593	NULL	0.047	-	-	-	no_errors	GREB1L	HGNC	ENSG00000141449	tier2	1071	0	0	1583	4	0.251889168765743	552	1	0.18018018018018
18	19642157	19642157	C	A	SNP	ENSG00000263588	ENST00000579830	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-36177	NULL	0.002	-	-	-	no_errors	RP11-595B24.2	Clone_based_vega_gene	ENSG00000263588	tier4	650	0	0	1023	2	0.194931773879142	300	6	1.96078431372549
18	19858115	19858115	A	C	SNP	ENSG00000238907	ENST00000459476	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*17475	NULL	0.002	-	-	-	no_errors	snoU13	RFAM	ENSG00000238907	tier2	830	0	0	1195	1	0.0835421888053467	382	2	0.520833333333333
18	21024024	21024024	A	G	SNP	RIOK3	ENST00000339486	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9380	NULL	0.000	-	-	-	no_errors	RIOK3	HGNC	ENSG00000101782	tier2	1500	0	0	2387	5	0.209030100334448	657	1	0.151975683890578
18	22048297	22048297	C	T	SNP	HRH4	ENST00000256906	human	ensembl	70_37	+1	known	intronic	c.194-455	e2-455	0.000	-	-	-	no_errors	HRH4	HGNC	ENSG00000134489	tier4	851	4	0.467836257309942	641	581	47.5450081833061	325	71	17.9292929292929
18	22072984	22072984	A	G	SNP	HRH4	ENST00000256906	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*15458	NULL	0.000	-	-	-	no_errors	HRH4	HGNC	ENSG00000134489	tier2	991	0	0	711	632	46.9888475836431	411	93	18.452380952381
18	22250697	22250697	T	C	SNP	ENSG00000263553	ENST00000578490	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-2430	NULL	0.000	-	-	-	no_errors	RP11-449D8.2	Clone_based_vega_gene	ENSG00000263553	tier4	1127	0	0	1462	2	0.136612021857923	576	0	0
18	24035377	24035377	G	T	SNP	KCTD1	ENST00000417602	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*330	NULL	1.000	-	-	-	no_errors	KCTD1	HGNC	ENSG00000134504	tier2	532	0	0	751	4	0.529801324503311	337	0	0
18	24130285	24130285	T	C	SNP	KCTD1	ENST00000317932	human	ensembl	70_37	-1	known	intronic	c.1-49071	e1-49071	0.000	-	-	-	no_errors	KCTD1	HGNC	ENSG00000134504	tier2	869	1	0.114942528735632	632	515	44.8606271777003	321	56	14.7757255936675
18	24351839	24351839	C	A	SNP	AQP4-AS1	ENST00000579964	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AQP4-AS1	HGNC	ENSG00000260372	tier2	568	0	0	445	330	42.5806451612903	230	62	21.2328767123288
18	24420086	24420086	T	C	SNP	AQP4-AS1	ENST00000579964	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.025	-	-	-	no_errors	AQP4-AS1	HGNC	ENSG00000260372	tier2	846	0	0	1247	2	0.160128102481986	395	0	0
18	25210431	25210431	C	T	SNP	ENSG00000264151	ENST00000580883	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-35432	NULL	0.000	-	-	-	no_errors	RP11-739N10.1	Clone_based_vega_gene	ENSG00000264151	tier4	1433	0	0	1767	3	0.169491525423729	633	5	0.78125
18	25952464	25952464	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1712	0	0	2399	2	0.0832292967124428	579	0	0
18	26156313	26156313	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	914	0	0	1114	2	0.17921146953405	434	3	0.68649885583524
18	27177240	27177240	A	G	SNP	ENSG00000264587	ENST00000581532	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*49034	NULL	0.001	-	-	-	no_errors	RP11-784B15.1	Clone_based_vega_gene	ENSG00000264587	tier4	1741	0	0	2638	2	0.0757288905717531	420	0	0
18	27274888	27274888	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	683	0	0	791	2	0.252206809583859	326	2	0.609756097560976
18	27454055	27454055	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	997	0	0	1357	2	0.14695077149155	492	7	1.40280561122244
18	27978689	27978689	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1284	0	0	1761	2	0.113442994895065	633	1	0.157728706624606
18	28110556	28110556	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	773	0	0	998	2	0.2	352	2	0.561797752808989
18	28112456	28112456	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1421	0	0	2075	2	0.0962927298988926	552	0	0
18	29271917	29271917	A	T	SNP	B4GALT6	ENST00000306851	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-7528	NULL	0.008	-	-	-	no_errors	B4GALT6	HGNC	ENSG00000118276	tier2	1126	1	0.0887311446317658	1071	461	30.0913838120104	601	2	0.33167495854063
18	29547793	29547793	T	G	SNP	TRAPPC8	ENST00000283351	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-25066	NULL	0.697	-	-	-	no_errors	TRAPPC8	HGNC	ENSG00000153339	tier2	534	0	0	807	1	0.123609394313968	328	3	0.906344410876133
18	32312190	32312190	T	G	SNP	DTNA	ENST00000269190	human	ensembl	70_37	+1	known	intronic	c.1-23750	e1-23750	0.001	-	-	-	no_errors	DTNA	HGNC	ENSG00000134769	tier2	1314	0	0	1817	6	0.328947368421053	578	1	0.172711571675302
18	34064472	34064472	T	A	SNP	FHOD3	ENST00000257209	human	ensembl	70_37	+1	known	intronic	c.338-17423	e4-17423	0.002	-	-	-	no_errors	FHOD3	HGNC	ENSG00000134775	tier2	1526	0	0	1886	32	1.66840458811262	506	118	18.9102564102564
18	34439787	34439787	A	T	SNP	KIAA1328	ENST00000280020	human	ensembl	70_37	+1	known	intronic	c.332+15522	e4+15522	0.046	-	-	-	no_errors	KIAA1328	HGNC	ENSG00000150477	tier4	2341	0	0	3119	3	0.0960922485586163	800	0	0
18	34627285	34627285	C	T	SNP	KIAA1328	ENST00000280020	human	ensembl	70_37	+1	known	intronic	c.577-19568	e7-19568	0.001	-	-	-	no_errors	KIAA1328	HGNC	ENSG00000150477	tier2	1101	0	0	842	349	29.3031066330814	641	0	0
18	35070518	35070518	G	C	SNP	CELF4	ENST00000591282	human	ensembl	70_37	-1	known	intronic	c.287-4948	e2-4948	0.000	-	-	-	no_errors	CELF4	HGNC	ENSG00000101489	tier2	917	1	0.108932461873638	569	478	45.6542502387775	375	83	18.0434782608696
18	35566887	35566887	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	547	0	0	686	2	0.290697674418605	246	1	0.404858299595142
18	36879184	36879184	T	C	SNP	LINC00669	ENST00000591469	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.012	-	-	-	no_errors	LINC00669	HGNC	ENSG00000267374	tier2	968	0	0	1191	2	0.167644593461861	530	1	0.188323917137476
18	37803055	37803055	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	518	0	0	773	4	0.514800514800515	277	0	0
18	37818424	37818424	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2519	4	0.158415841584158	2956	432	12.7433628318584	749	1	0.133333333333333
18	38780624	38780624	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1292	0	0	1719	3	0.174216027874564	610	2	0.326797385620915
18	41480420	41480420	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	684	1	0.145985401459854	457	453	49.7802197802198	283	55	16.2721893491124
18	41551695	41551695	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1648	3	0.181708055723804	2098	6	0.284900284900285	731	14	1.8641810918775
18	42065202	42065202	A	C	SNP	ENSG00000267337	ENST00000587877	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.251	-	-	-	no_errors	CTC-782O7.1	Clone_based_vega_gene	ENSG00000267337	tier4	578	0	0	764	4	0.520156046814044	265	5	1.85185185185185
18	47083077	47083077	A	C	SNP	LIPG	ENST00000261292	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5602	NULL	0.000	-	-	-	no_errors	LIPG	HGNC	ENSG00000101670	tier2	1029	0	0	1508	3	0.198150594451783	418	0	0
18	48388090	48388090	G	T	SNP	ME2	ENST00000321341	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-34101	NULL	0.118	-	-	-	no_errors	ME2	HGNC	ENSG00000082212	tier4	1410	0	0	2205	2	0.0906207521522429	461	6	1.2847965738758
18	48689831	48689831	T	C	SNP	SRSF10P1	ENST00000588646	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-4078	NULL	0.001	-	-	-	no_coding_region:pseudogene	SRSF10P1	HGNC	ENSG00000267717	tier2	1169	0	0	1651	1	0.0605326876513317	511	2	0.389863547758285
18	49218102	49218102	G	A	SNP	ENSG00000265712	ENST00000577726	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-3523	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-440L16.1	Clone_based_vega_gene	ENSG00000265712	tier2	805	1	0.124069478908189	480	372	43.6619718309859	367	76	17.0786516853933
18	49377438	49377438	T	A	SNP	RPS8P3	ENST00000462935	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5440	NULL	0.002	-	-	-	no_coding_region:pseudogene	RPS8P3	HGNC	ENSG00000215457	tier4	2012	0	0	2572	3	0.116504854368932	722	0	0
18	49648851	49648851	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1581	1	0.0632111251580278	1137	1013	47.0943747094375	537	123	18.5800604229607
18	50145551	50145551	A	C	SNP	DCC	ENST00000442544	human	ensembl	70_37	+1	known	intronic	c.92-132873	e2-132873	0.002	-	-	-	no_errors	DCC	HGNC	ENSG00000187323	tier4	967	0	0	1155	1	0.0865051903114187	419	3	0.707547169811321
18	50335032	50335032	A	C	SNP	DCC	ENST00000442544	human	ensembl	70_37	+1	known	intronic	c.412+56288	e2+56288	0.194	-	-	-	no_errors	DCC	HGNC	ENSG00000187323	tier2	726	0	0	930	4	0.428265524625268	343	3	0.862068965517241
18	50385710	50385710	G	A	SNP	DCC	ENST00000442544	human	ensembl	70_37	+1	known	intronic	c.413-46704	e3-46704	0.117	-	-	-	no_errors	DCC	HGNC	ENSG00000187323	tier4	1025	0	0	643	581	47.4673202614379	403	77	16.0416666666667
18	51089953	51089953	C	T	SNP	ENSG00000264263	ENST00000582064	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP11-671P2.1	Clone_based_vega_gene	ENSG00000264263	tier2	916	0	0	1295	3	0.230769230769231	443	0	0
18	52758734	52758734	G	A	SNP	ENSG00000267013	ENST00000589125	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*14401	NULL	0.000	-	-	-	no_errors	CTD-2171N6.1	Clone_based_vega_gene	ENSG00000267013	tier2	1153	1	0.0866551126516464	790	630	44.3349753694581	419	96	18.6407766990291
18	52942272	52942272	A	G	SNP	TCF4	ENST00000398339	human	ensembl	70_37	-1	known	intronic	c.1095+578	e11+578	0.000	-	-	-	no_errors	TCF4	HGNC	ENSG00000196628	tier2	1803	0	0	2545	5	0.196078431372549	701	1	0.142450142450142
18	55719881	55719881	T	C	SNP	NEDD4L	ENST00000400345	human	ensembl	70_37	+1	known	intronic	c.48+7941	e1+7941	0.002	-	-	-	no_errors	NEDD4L	HGNC	ENSG00000049759	tier2	738	0	0	892	8	0.888888888888889	360	0	0
18	55731719	55731719	T	G	SNP	NEDD4L	ENST00000400345	human	ensembl	70_37	+1	known	intronic	c.48+19779	e1+19779	0.000	-	-	-	no_errors	NEDD4L	HGNC	ENSG00000049759	tier2	852	0	0	1231	3	0.243111831442464	467	0	0
18	58692570	58692570	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	982	0	0	1209	2	0.165152766308836	494	3	0.603621730382294
18	61576891	61576891	A	C	SNP	SERPINB10	ENST00000238508	human	ensembl	70_37	+1	known	intronic	c.1+1617	e0+1617	0.011	-	-	-	no_errors	SERPINB10	HGNC	ENSG00000242550	tier2	717	0	0	1027	2	0.194363459669582	260	0	0
18	61577304	61577304	A	G	SNP	SERPINB10	ENST00000238508	human	ensembl	70_37	+1	known	intronic	c.1+2030	e0+2030	0.445	-	-	-	no_errors	SERPINB10	HGNC	ENSG00000242550	tier2	882	0	0	1167	3	0.256410256410256	362	0	0
18	62192716	62192716	A	G	SNP	ENSG00000252818	ENST00000517009	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*23974	NULL	0.002	-	-	-	no_errors	U7	RFAM	ENSG00000252818	tier2	1103	1	0.0905797101449275	784	664	45.8563535911602	487	101	17.1768707482993
18	62874398	62874398	G	A	SNP	ENSG00000264131	ENST00000578545	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*20144	NULL	0.007	-	-	-	no_errors	AC007631.1	Clone_based_vega_gene	ENSG00000264131	tier4	275	0	0	183	148	44.7129909365559	113	24	17.5182481751825
18	63950078	63950078	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier2	1564	3	0.191326530612245	1981	6	0.301962757926522	531	13	2.38970588235294
18	65604496	65604496	T	G	SNP	ENSG00000264634	ENST00000580622	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3690	NULL	0.004	-	-	-	no_errors	RP11-659F24.1	Clone_based_vega_gene	ENSG00000264634	tier2	698	0	0	959	3	0.311850311850312	308	2	0.645161290322581
18	66503251	66503251	G	T	SNP	CCDC102B	ENST00000319445	human	ensembl	70_37	+1	known	intronic	c.1-735	e1-735	0.000	-	-	-	no_errors	CCDC102B	HGNC	ENSG00000150636	tier2	821	0	0	1118	5	0.445235975066785	429	1	0.232558139534884
18	68065485	68065485	A	C	SNP	LOC101060542	ENST00000582251	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-13658	NULL	0.001	-	-	-	no_errors	RP11-41O4.2	Clone_based_vega_gene	ENSG00000266278	tier2	606	0	0	797	2	0.250312891113892	305	0	0
18	68869173	68869173	A	G	SNP	ENSG00000263733	ENST00000583587	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-23767	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-47G4.1	Clone_based_vega_gene	ENSG00000263733	tier2	677	0	0	883	2	0.225988700564972	316	0	0
18	70238653	70238653	G	A	SNP	CBLN2	ENST00000580889	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CBLN2	HGNC	ENSG00000141668	tier2	688	0	0	936	2	0.212765957446809	333	0	0
18	70744881	70744881	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	985	0	0	660	490	42.6086956521739	401	83	17.1487603305785
18	72110171	72110171	T	G	SNP	FAM69C	ENST00000343998	human	ensembl	70_37	-1	known	intronic	c.877-820	e3-820	0.001	-	-	-	no_errors	FAM69C	HGNC	ENSG00000187773	tier2	388	0	0	452	2	0.440528634361234	213	5	2.29357798165138
18	72974119	72974119	A	C	SNP	TSHZ1	ENST00000580243	human	ensembl	70_37	+1	known	intronic	c.41-23284	e2-23284	0.000	-	-	-	no_errors	TSHZ1	HGNC	ENSG00000179981	tier2	1078	0	0	1471	3	0.203527815468114	576	0	0
18	74432773	74432773	A	G	SNP	ENSG00000265836	ENST00000579393	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30488	NULL	0.011	-	-	-	no_coding_region:pseudogene	AC139085.1	Clone_based_vega_gene	ENSG00000265836	tier4	1351	0	0	1945	3	0.154004106776181	529	0	0
18	76999502	76999502	G	A	SNP	ATP9B	ENST00000426216	human	ensembl	70_37	+1	known	intronic	c.1108-13879	e12-13879	0.000	-	-	-	no_errors	ATP9B	HGNC	ENSG00000166377	tier2	1340	0	0	1559	170	9.82658959537572	556	2	0.3584229390681
18	77348771	77348771	T	C	SNP	ENSG00000267287	ENST00000589723	human	ensembl	70_37	+1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	RP11-567M16.1	Clone_based_vega_gene	ENSG00000267287	tier1	190	0	0	270	2	0.735294117647059	122	0	0
18	77590526	77590526	T	G	SNP	KCNG2	ENST00000316249	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33142	NULL	0.000	-	-	-	no_errors	KCNG2	HGNC	ENSG00000178342	tier2	787	0	0	1083	4	0.367647058823529	357	0	0
19	855779	855779	G	T	SNP	ELANE	ENST00000263621	human	ensembl	70_37	+1	known	missense	c.582	p.Q194H	0.074	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	-	no_errors	ELANE	HGNC	ENSG00000197561	tier1	250	0	0	120	127	51.42	255	57	18.21
19	3734400	3734400	G	A	SNP	TJP3	ENST00000262968	human	ensembl	70_37	+1	known	missense	c.1052	p.R351Q	0.000	NULL	pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens	-	no_errors	TJP3	HGNC	ENSG00000105289	tier1	301	0	0	360	53	12.8329297820823	175	0	0
19	3734400	3734400	G	A	SNP	TJP3	ENST00000262968	human	ensembl	70_37	+1	known	missense	c.1052	p.R351Q	0.000	NULL	pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens	-	no_errors	TJP3	HGNC	ENSG00000105289	tier1	594	0	0	623	82	11.6312056737589	438	0	0
19	8495897	8495897	A	C	SNP	MARCH2	ENST00000215555	human	ensembl	70_37	+1	known	intronic	c.582+146	e3+146	0.000	-	-	-	no_errors	MARCH2	HGNC	ENSG00000099785	tier3	360	0	0	645	2	0.309119010819165	248	4	1.58730158730159
19	8956613	8956613	C	A	SNP	ZNF558	ENST00000301475	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-23278	NULL	0.013	-	-	-	no_errors	ZNF558	HGNC	ENSG00000167785	tier3	670	0	0	925	3	0.321199143468951	363	2	0.539083557951483
19	9648819	9648819	T	G	SNP	ZNF426	ENST00000253115	human	ensembl	70_37	-1	known	intronic	c.1+116	e0+116	0.000	-	-	-	no_errors	ZNF426	HGNC	ENSG00000130818	tier3	1066	0	0	1533	2	0.130293159609121	583	2	0.341880341880342
19	9733275	9733275	A	G	SNP	LOC284385	ENST00000585797	human	ensembl	70_37	+1	known	intronic	c.93+954	e1+954	0.019	-	-	-	no_errors	CTD-3116E22.4	Clone_based_vega_gene	ENSG00000267106	tier4	506	0	0	709	4	0.561009817671809	349	3	0.852272727272727
19	10006336	10006336	G	A	SNP	OLFM2	ENST00000264833	human	ensembl	70_37	-1	known	intronic	c.64-34866	e2-34866	0.006	-	-	-	no_errors	OLFM2	HGNC	ENSG00000105088	tier4	1565	3	0.190961171228517	1367	1267	48.0834914611006	376	130	25.4901960784314
19	11034787	11034787	T	G	SNP	YIPF2	ENST00000253031	human	ensembl	70_37	-1	known	missense	c.449	p.D150A	0.998	pfam_Yip1	pfam_Yip1	-	no_errors	YIPF2	HGNC	ENSG00000130733	tier1	482	0	0	707	2	0.282087447108604	259	1	0.384615384615385
19	11248297	11248297	T	A	SNP	SPC24	ENST00000585567	human	ensembl	70_37	-1	known	intronic	c.436-206	e5-206	0.002	-	-	-	no_stop_codon	SPC24	HGNC	ENSG00000161888	tier4	2175	0	0	3797	3	0.0779828437743696	694	4	0.564174894217207
19	12253305	12253305	A	G	SNP	ZNF625	ENST00000414892	human	ensembl	70_37	-1	putative	missense	c.295	p.S99P	1.000	NULL	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	-	no_start_codon	ZNF625	HGNC	ENSG00000257591	tier1	604	0	0	853	6	0.69848661233993	344	4	1.14942528735632
19	13142568	13142568	A	G	SNP	NFIX	ENST00000585575	human	ensembl	70_37	+1	known	intronic	c.535+6202	e2+6202	0.000	-	-	-	no_errors	NFIX	HGNC	ENSG00000008441	tier3	925	0	0	808	789	49.343339587242	399	86	17.7319587628866
19	13370692	13370692	G	A	SNP	CACNA1A	ENST00000360228	human	ensembl	70_37	-1	known	intronic	c.4251-177	e27-177	0.010	-	-	-	no_errors	CACNA1A	HGNC	ENSG00000141837	tier3	514	0	0	538	234	30.3108808290155	308	6	1.91082802547771
19	13603438	13603438	T	G	SNP	CACNA1A	ENST00000360228	human	ensembl	70_37	-1	known	intronic	c.293+13308	e1+13308	0.004	-	-	-	no_errors	CACNA1A	HGNC	ENSG00000141837	tier3	801	0	0	1306	5	0.380807311500381	403	2	0.493827160493827
19	14722948	14722948	T	G	SNP	NDUFB7	ENST00000215565	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-40136	NULL	0.002	-	-	-	no_errors	NDUFB7	HGNC	ENSG00000099795	tier4	376	0	0	600	3	0.497512437810945	218	1	0.45662100456621
19	18820214	18820214	T	A	SNP	CRTC1	ENST00000338797	human	ensembl	70_37	+1	known	intronic	c.126+25576	e1+25576	0.001	-	-	-	no_errors	CRTC1	HGNC	ENSG00000105662	tier3	235	0	0	215	197	47.8155339805825	136	37	21.1428571428571
19	19543751	19543751	T	G	SNP	GATAD2A	ENST00000404158	human	ensembl	70_37	+1	known	intronic	c.1-3189	e1-3189	0.004	-	-	-	no_errors	GATAD2A	HGNC	ENSG00000167491	tier4	847	0	0	1429	2	0.139664804469274	462	2	0.431034482758621
19	20000826	20000826	G	T	SNP	ZNF253	ENST00000589717	human	ensembl	70_37	+1	known	intronic	c.227-1457	e4-1457	0.191	-	-	-	no_errors	ZNF253	HGNC	ENSG00000256771	tier3	647	0	0	855	3	0.34965034965035	423	4	0.936768149882904
19	21172539	21172539	A	G	SNP	ZNF430	ENST00000261560	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31068	NULL	0.110	-	-	-	no_errors	ZNF430	HGNC	ENSG00000118620	tier4	602	0	0	818	2	0.24390243902439	361	0	0
19	22326401	22326401	T	C	SNP	ZNF92P2	ENST00000600543	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-11665	NULL	0.180	-	-	-	no_coding_region:pseudogene	ZNF92P2	HGNC	ENSG00000269505	tier4	382	0	0	514	4	0.772200772200772	207	3	1.42857142857143
19	22534193	22534193	C	T	SNP	ENSG00000268685	ENST00000596454	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-11198	NULL	0.298	-	-	-	no_coding_region:pseudogene	CTB-31C7.3	Clone_based_vega_gene	ENSG00000268685	tier4	565	0	0	365	327	47.2543352601156	297	52	14.6478873239437
19	27737043	27737043	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	193	0	0	276	2	0.719424460431655	127	0	0
19	27739096	27739096	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	137	0	0	139	2	1.40845070422535	51	0	0
19	27739254	27739254	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	116	0	0	165	3	1.78571428571429	84	0	0
19	27778677	27778677	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	999	0	0	1383	2	0.144300144300144	383	2	0.506329113924051
19	27852061	27852061	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1251	0	0	1908	3	0.156985871271586	938	0	0
19	27852062	27852062	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1260	0	0	1899	5	0.262605042016807	938	0	0
19	27852454	27852454	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	649	0	0	942	3	0.317460317460317	373	0	0
19	28240760	28240760	C	A	SNP	LINC00662	ENST00000588027	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.127	-	-	-	no_errors	LINC00662	HGNC	ENSG00000261824	tier4	485	0	0	539	1	0.185185185185185	282	2	0.699300699300699
19	28335510	28335510	G	A	SNP	ENSG00000267575	ENST00000588122	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTC-459F4.3	Clone_based_vega_gene	ENSG00000267575	tier4	1301	1	0.0768049155145929	881	649	42.4183006535948	543	124	18.5907046476762
19	29067431	29067431	G	A	SNP	ENSG00000266893	ENST00000589999	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.054	-	-	-	no_errors	AC005616.1	Clone_based_vega_gene	ENSG00000266893	tier3	1367	0	0	844	706	45.4896907216495	538	101	15.7566302652106
19	29653367	29653367	T	G	SNP	UQCRFS1	ENST00000304863	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*45088	NULL	1.000	-	-	-	no_errors	UQCRFS1	HGNC	ENSG00000169021	tier4	694	0	0	746	4	0.532623169107856	335	4	1.17994100294985
19	31643452	31643452	T	C	SNP	ENSG00000267777	ENST00000589511	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-14970	NULL	0.000	-	-	-	no_errors	CTC-439O9.3	Clone_based_vega_gene	ENSG00000267777	tier3	730	0	0	608	193	24.0948813982522	320	0	0
19	33920107	33920107	A	G	SNP	PEPD	ENST00000244137	human	ensembl	70_37	-1	known	intronic	c.672-15558	e10-15558	0.000	-	-	-	no_errors	PEPD	HGNC	ENSG00000124299	tier4	231	2	0.858369098712446	179	133	42.6282051282051	151	40	20.9424083769634
19	34168559	34168559	A	G	SNP	CHST8	ENST00000434302	human	ensembl	70_37	+1	known	intronic	c.1+9810	e0+9810	0.023	-	-	-	no_errors	CHST8	HGNC	ENSG00000124302	tier3	599	0	0	829	2	0.240673886883273	276	0	0
19	35583053	35583053	A	G	SNP	LOC100128675	ENST00000392227	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	CTD-2527I21.11	Clone_based_vega_gene	ENSG00000227392	tier4	2107	0	0	1771	1659	48.3110075713454	707	134	15.9334126040428
19	36282132	36282132	C	T	SNP	ENSG00000225872	ENST00000433059	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	AC002398.5	Clone_based_vega_gene	ENSG00000225872	tier1	164	1	0.606060606060606	120	138	53.4883720930233	85	15	15
19	37675341	37675341	A	G	SNP	ZNF585B	ENST00000532828	human	ensembl	70_37	-1	known	3_prime_untranslated_region	c.*788	NULL	0.000	-	-	-	no_errors	ZNF585B	HGNC	ENSG00000245680	tier4	80	0	0	126	8	5.88235294117647	38	0	0
19	38145481	38145481	T	C	SNP	ZFP30	ENST00000351218	human	ensembl	70_37	-1	known	intronic	c.1+132	e0+132	0.001	-	-	-	no_errors	ZFP30	HGNC	ENSG00000120784	tier3	1119	0	0	1627	1	0.0613873542050338	442	2	0.45045045045045
19	38476923	38476923	T	G	SNP	SIPA1L3	ENST00000222345	human	ensembl	70_37	+1	known	intronic	c.1-42806	e1-42806	0.000	-	-	-	no_errors	SIPA1L3	HGNC	ENSG00000105738	tier4	495	0	0	758	2	0.263157894736842	325	0	0
19	39592318	39592318	G	T	SNP	PAPL	ENST00000331256	human	ensembl	70_37	+1	known	intronic	c.1113+141	e10+141	0.000	-	-	-	no_errors	PAPL	Uniprot_genename	ENSG00000183760	tier4	1014	0	0	1617	3	0.184615384615385	624	0	0
19	40238895	40238895	C	T	SNP	CLC	ENST00000221804	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-10303	NULL	0.049	-	-	-	no_errors	CLC	HGNC	ENSG00000105205	tier4	1172	0	0	951	639	40.188679245283	526	102	16.1904761904762
19	40468272	40468272	C	T	SNP	FCGBP	ENST00000221347	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-27747	NULL	0.261	-	-	-	no_errors	FCGBP	HGNC	ENSG00000090920	tier4	753	0	0	575	516	47.2527472527473	339	93	21.4285714285714
19	41803373	41803373	G	C	SNP	HNRNPUL1	ENST00000392006	human	ensembl	70_37	+1	known	intronic	c.1518+2782	e10+2782	0.000	-	-	-	no_errors	HNRNPUL1	HGNC	ENSG00000105323	tier3	1135	0	0	1006	688	40.6139315230224	544	86	13.6075949367089
19	42937143	42937143	T	C	SNP	CXCL17	ENST00000601181	human	ensembl	70_37	-1	known	missense	c.247	p.N83D	0.010	NULL	NULL	-	no_errors	CXCL17	HGNC	ENSG00000189377	tier1	281	0	0	256	0	0	252	13	4.91
19	43070462	43070462	A	C	SNP	LOC100996307	ENST00000594624	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	CTB-50E14.6	Clone_based_vega_gene	ENSG00000213904	tier4	890	0	0	1374	3	0.217864923747277	374	1	0.26525198938992
19	43086198	43086198	G	T	SNP	CEACAM8	ENST00000244336	human	ensembl	70_37	-1	known	intronic	c.1050-693	e6-693	0.030	-	-	-	no_errors	CEACAM8	HGNC	ENSG00000124469	tier3	715	0	0	951	4	0.418848167539267	369	0	0
19	43101459	43101459	G	A	SNP	LOC100996307	ENST00000594624	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.080	-	-	-	no_errors	CTB-50E14.6	Clone_based_vega_gene	ENSG00000213904	tier4	873	0	0	681	533	43.9044481054366	312	75	19.3798449612403
19	43172745	43172745	A	C	SNP	CEACAMP5	ENST00000448037	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_coding_region:pseudogene	CEACAMP5	HGNC	ENSG00000231561	tier4	436	0	0	600	4	0.661157024793388	242	0	0
19	44188591	44188591	C	G	SNP	IRGC	ENST00000244314	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-34120	NULL	0.000	-	-	-	no_errors	IRGC	HGNC	ENSG00000124449	tier4	400	0	0	301	258	46.1538461538462	188	45	19.31330472103
19	44557266	44557266	A	G	SNP	ZNF223	ENST00000591793	human	ensembl	70_37	+1	known	intronic	c.263-1996	e4-1996	0.098	-	-	-	no_errors	ZNF223	Uniprot_genename	ENSG00000267022	tier4	641	0	0	915	2	0.218102508178844	328	1	0.303951367781155
19	45073172	45073172	A	C	SNP	CEACAM22P	ENST00000455455	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.025	-	-	-	no_errors	CEACAM22P	HGNC	ENSG00000230666	tier3	1446	0	0	1849	223	10.7625482625483	758	0	0
19	46248885	46248885	G	A	SNP	ENSG00000237452	ENST00000457052	human	ensembl	70_37	+1	putative	intronic	c.306+306	e3+306	0.018	-	-	-	no_errors	AC074212.3	Clone_based_vega_gene	ENSG00000237452	tier3	844	0	0	704	653	48.1208548268239	446	115	20.4262877442274
19	46737856	46737856	G	A	SNP	ENSG00000268621	ENST00000594027	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31565	NULL	0.001	-	-	-	no_errors	AC006262.5	Clone_based_vega_gene	ENSG00000268621	tier4	524	0	0	756	2	0.263157894736842	363	4	1.08991825613079
19	46861668	46861668	T	C	SNP	PPP5C	ENST00000012443	human	ensembl	70_37	+1	known	intronic	c.363+4422	e2+4422	0.087	-	-	-	no_errors	PPP5C	HGNC	ENSG00000011485	tier4	988	0	0	1599	2	0.124921923797626	577	0	0
19	47989610	47989610	T	A	SNP	NAPA-AS1	ENST00000593284	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.008	-	-	-	no_errors	NAPA-AS1	HGNC	ENSG00000268061	tier4	1032	0	0	1734	8	0.458978772231784	487	2	0.404858299595142
19	48195399	48195399	A	C	SNP	GLTSCR1	ENST00000396720	human	ensembl	70_37	+1	known	intronic	c.2284-1973	e6-1973	0.000	-	-	-	no_errors	GLTSCR1	HGNC	ENSG00000063169	tier3	299	0	0	503	2	0.396039603960396	225	1	0.442477876106195
19	48724258	48724258	A	G	SNP	CARD8	ENST00000391898	human	ensembl	70_37	-1	known	intronic	c.1161+729	e8+729	0.004	-	-	-	no_errors	CARD8	HGNC	ENSG00000105483	tier4	55	0	0	109	7	6.03448275862069	31	0	0
19	48791156	48791156	T	A	SNP	CARD8	ENST00000391898	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-46879	NULL	0.195	-	-	-	no_errors	CARD8	HGNC	ENSG00000105483	tier4	621	0	0	1120	2	0.177619893428064	353	2	0.563380281690141
19	49319040	49319040	A	G	SNP	HSD17B14	ENST00000263278	human	ensembl	70_37	-1	known	intronic	c.370-642	e6-642	0.155	-	-	-	no_errors	HSD17B14	HGNC	ENSG00000087076	tier4	1149	0	0	2079	3	0.144092219020173	492	0	0
19	49432830	49432830	T	C	SNP	TULP2	ENST00000221399	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31705	NULL	0.062	-	-	-	no_errors	TULP2	HGNC	ENSG00000104804	tier4	1408	0	0	2413	7	0.289136720363486	710	0	0
19	52564620	52564620	A	C	SNP	ENSG00000260160	ENST00000569091	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.520	-	-	-	no_errors	CTC-471J1.2	Clone_based_vega_gene	ENSG00000260160	tier4	487	0	0	601	2	0.33167495854063	283	0	0
19	54212162	54212162	T	G	SNP	MIR521-2	ENST00000384818	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-7686	NULL	0.038	-	-	-	no_errors	MIR521-2	HGNC	ENSG00000207549	tier3	606	0	0	806	5	0.61652281134402	349	3	0.852272727272727
19	56278200	56278200	C	G	SNP	NLRP9	ENST00000332836	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28460	NULL	0.000	-	-	-	no_errors	NLRP9	HGNC	ENSG00000185792	tier3	666	0	0	952	2	0.209643605870021	389	0	0
19	56538441	56538441	C	T	SNP	NLRP5	ENST00000390649	human	ensembl	70_37	+1	known	missense	c.842	p.T281M	0.057	pfscan_NACHT_NTPase	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	-	no_errors	NLRP5	HGNC	ENSG00000171487	tier1	307	0	0	263	0	0	302	12	3.81
19	57296469	57296469	G	A	SNP	ZIM2	ENST00000221722	human	ensembl	70_37	-1	known	intronic	c.478-2980	e7-2980	0.011	-	-	-	no_errors	ZIM2	HGNC	ENSG00000269699	tier4	1574	0	0	1053	728	40.8759124087591	608	96	13.6363636363636
19	57934137	57934137	T	G	SNP	ENSG00000268533	ENST00000597410	human	ensembl	70_37	+1	putative	intronic	c.42-5690	e2-5690	0.005	-	-	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	AC004076.7	Clone_based_vega_gene	ENSG00000268533	tier4	1441	0	0	1889	3	0.158562367864693	588	1	0.169491525423729
19	58697441	58697441	T	G	SNP	ZNF274	ENST00000594248	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*58697441	NULL	0.001	-	-	-	no_coding_region	ZNF274	HGNC	ENSG00000171606	tier3	471	0	0	675	3	0.442477876106195	330	0	0
19	58825440	58825440	A	G	SNP	ENSG00000267216	ENST00000591325	human	ensembl	70_37	+1	known	intronic	c.414-674	e2-674	0.367	-	-	-	no_errors	AC010642.1	Clone_based_vega_gene	ENSG00000267216	tier4	759	0	0	1185	3	0.252525252525253	380	1	0.26246719160105
20	1820366	1820366	C	T	SNP	ENSG00000230839	ENST00000447206	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22114	NULL	0.971	-	-	-	no_errors	RP5-968J1.1	Clone_based_vega_gene	ENSG00000230839	tier3	1012	0	0	144	1202	89.3016344725111	234	110	31.9767441860465
20	2056357	2056357	A	C	SNP	RPL7P2	ENST00000427639	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*2056357	NULL	1.000	-	-	-	no_coding_region:pseudogene	RPL7P2	HGNC	ENSG00000227663	tier3	766	0	0	997	2	0.2002002002002	431	0	0
20	2295092	2295092	A	G	SNP	TGM3	ENST00000381458	human	ensembl	70_37	+1	known	intronic	c.669+1420	e5+1420	0.102	-	-	-	no_errors	TGM3	HGNC	ENSG00000125780	tier4	755	1	0.132275132275132	522	536	50.6616257088847	309	75	19.53125
20	3214471	3214471	G	A	SNP	SLC4A11	ENST00000380059	human	ensembl	70_37	-1	known	intronic	c.734+96	e6+96	0.000	-	-	-	no_errors	SLC4A11	HGNC	ENSG00000088836	tier3	627	0	0	782	95	10.8323831242873	289	1	0.344827586206897
20	6273814	6273814	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1205	0	0	878	690	44.0051020408163	540	94	14.8264984227129
20	6434344	6434344	G	T	SNP	ENSG00000229876	ENST00000415932	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.064	-	-	-	no_errors	RP11-199O14.1	Clone_based_vega_gene	ENSG00000229876	tier3	1296	1	0.0771010023130301	986	799	44.7368421052632	476	108	18.4300341296928
20	7518554	7518554	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1438	0	0	1070	737	40.7632743362832	526	131	19.9391171993912
20	7889723	7889723	T	G	SNP	HAO1	ENST00000378789	human	ensembl	70_37	-1	known	intronic	c.546-2747	e4-2747	0.901	-	-	-	no_errors	HAO1	HGNC	ENSG00000101323	tier3	916	0	0	1226	3	0.24390243902439	432	0	0
20	9766975	9766975	C	T	SNP	PAK7	ENST00000353224	human	ensembl	70_37	-1	known	intronic	c.1+52435	e0+52435	0.001	-	-	-	no_errors	PAK7	HGNC	ENSG00000101349	tier3	1310	0	0	1572	198	11.1864406779661	518	0	0
20	9891286	9891286	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1592	0	0	2162	3	0.138568129330254	635	3	0.470219435736677
20	11836010	11836010	A	G	SNP	LINC00687	ENST00000557899	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.036	-	-	-	no_errors	LINC00687	HGNC	ENSG00000228422	tier4	759	0	0	962	2	0.20746887966805	406	0	0
20	12331642	12331642	C	A	SNP	ENSG00000230437	ENST00000442389	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34509	NULL	0.281	-	-	-	no_errors	RP11-102J14.1	Clone_based_vega_gene	ENSG00000230437	tier3	658	0	0	493	292	37.1974522292994	340	54	13.7055837563452
20	12581729	12581729	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	786	0	0	1031	3	0.289855072463768	335	1	0.29585798816568
20	12591202	12591202	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1295	0	0	1466	171	10.445937690898	557	0	0
20	12906652	12906652	A	C	SNP	ENSG00000233048	ENST00000456265	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP5-1069C8.2	Clone_based_vega_gene	ENSG00000233048	tier4	741	0	0	1047	5	0.475285171102662	396	2	0.50251256281407
20	13237831	13237831	A	G	SNP	ISM1	ENST00000262487	human	ensembl	70_37	+1	known	intronic	c.139-13320	e2-13320	0.000	-	-	-	no_errors	ISM1	HGNC	ENSG00000101230	tier3	696	0	0	918	3	0.325732899022801	337	3	0.882352941176471
20	13465791	13465791	T	A	SNP	TASP1	ENST00000337743	human	ensembl	70_37	-1	known	intronic	c.875-1807	e10-1807	0.435	-	-	-	no_errors	TASP1	HGNC	ENSG00000089123	tier3	1529	0	0	2042	4	0.195407914020518	645	2	0.307219662058372
20	14533164	14533164	A	T	SNP	MACROD2	ENST00000310348	human	ensembl	70_37	+1	known	intronic	c.301+59010	e4+59010	0.078	-	-	-	no_errors	MACROD2	HGNC	ENSG00000172264	tier3	1014	0	0	720	675	48.3870967741935	437	75	14.6484375
20	14586151	14586151	T	A	SNP	MACROD2	ENST00000310348	human	ensembl	70_37	+1	known	intronic	c.302-79338	e5-79338	0.002	-	-	-	no_errors	MACROD2	HGNC	ENSG00000172264	tier4	1431	0	0	1566	239	13.233665559247	583	0	0
20	17015934	17015934	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2650	3	0.113079532604599	1759	1401	44.3214172730149	785	181	18.7370600414079
20	17046653	17046653	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1181	0	0	779	639	45.0634696755994	443	103	18.7956204379562
20	17061282	17061282	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1542	3	0.193673337637185	903	795	46.7922307239553	486	133	21.4170692431562
20	17204327	17204327	G	T	SNP	PCSK2	ENST00000262545	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3624	NULL	0.000	-	-	-	no_errors	PCSK2	HGNC	ENSG00000125851	tier3	1138	1	0.0877963125548727	815	577	41.4511494252874	467	107	18.6411149825784
20	17370810	17370810	C	T	SNP	PCSK2	ENST00000262545	human	ensembl	70_37	+1	known	intronic	c.544-19098	e6-19098	0.000	-	-	-	no_errors	PCSK2	HGNC	ENSG00000125851	tier4	882	0	0	567	501	46.866230121609	371	77	17.1875
20	19177691	19177691	T	C	SNP	SLC24A3	ENST00000328041	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15796	NULL	0.469	-	-	-	no_errors	SLC24A3	HGNC	ENSG00000185052	tier4	1100	0	0	1424	2	0.140252454417952	533	3	0.559701492537313
20	19905073	19905073	T	C	SNP	RIN2	ENST00000255006	human	ensembl	70_37	+1	known	intronic	c.205-10670	e3-10670	0.000	-	-	-	no_errors	RIN2	HGNC	ENSG00000132669	tier4	565	0	0	777	2	0.256739409499358	352	1	0.28328611898017
20	20078773	20078773	C	T	SNP	C20orf26	ENST00000245957	human	ensembl	70_37	+1	known	intronic	c.700-526	e7-526	0.000	-	-	-	no_errors	C20orf26	HGNC	ENSG00000089101	tier3	1176	1	0.0848896434634975	820	694	45.8388375165125	489	75	13.2978723404255
20	20201566	20201566	G	T	SNP	C20orf26	ENST00000245957	human	ensembl	70_37	+1	known	intronic	c.1933-7327	e17-7327	0.000	-	-	-	no_errors	C20orf26	HGNC	ENSG00000089101	tier3	1563	0	0	2091	2	0.0955566172957477	760	2	0.26246719160105
20	23184366	23184366	A	C	SNP	RNA5SP478	ENST00000364657	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42758	NULL	0.000	-	-	-	no_errors	RNA5SP478	HGNC	ENSG00000201527	tier3	1178	0	0	1792	4	0.22271714922049	495	2	0.402414486921529
20	24351368	24351368	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	634	2	0.313971742543171	399	329	45.1303155006859	281	80	22.1606648199446
20	24837570	24837570	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	468	1	0.213219616204691	305	307	50.1633986928105	219	59	21.2230215827338
20	25836801	25836801	A	C	SNP	FAM182B	ENST00000376404	human	ensembl	70_37	-1	known	intronic	c.1-7217	e1-7217	0.017	-	-	-	no_errors	FAM182B	HGNC	ENSG00000175170	tier4	191	0	0	228	4	1.72413793103448	141	6	4.08163265306122
20	25935096	25935096	G	T	SNP	ENSG00000226203	ENST00000449316	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-1352	NULL	0.001	-	-	-	no_errors	RP4-760C5.5	Clone_based_vega_gene	ENSG00000226203	tier3	1301	0	0	1549	2	0.128783000643915	884	0	0
20	26262743	26262743	T	G	SNP	LOC284801	ENST00000594130	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-30602	NULL	0.001	-	-	-	no_errors	RP3-410C9.1	Clone_based_vega_gene	ENSG00000227195	tier4	106	0	0	124	4	3.125	66	2	2.94117647058824
20	26262911	26262911	T	C	SNP	LOC284801	ENST00000594130	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-30770	NULL	0.006	-	-	-	no_errors	RP3-410C9.1	Clone_based_vega_gene	ENSG00000227195	tier4	221	0	0	273	2	0.72463768115942	227	0	0
20	26310717	26310717	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	566	0	0	889	3	0.335946248600224	399	0	0
20	29583122	29583122	T	C	SNP	ENSG00000231934	ENST00000432067	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.084	-	-	-	no_errors	RP4-610C12.1	Clone_based_vega_gene	ENSG00000231934	tier3	2083	0	0	2688	1	0.037147102526003	1408	3	0.212314225053079
20	29584407	29584407	A	G	SNP	ENSG00000231934	ENST00000432067	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.026	-	-	-	no_errors	RP4-610C12.1	Clone_based_vega_gene	ENSG00000231934	tier4	3524	0	0	4708	3	0.0636402206194315	1910	0	0
20	29584625	29584625	G	A	SNP	ENSG00000231934	ENST00000432067	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.006	-	-	-	no_errors	RP4-610C12.1	Clone_based_vega_gene	ENSG00000231934	tier3	3476	20	0.571591883395256	4109	25	0.604156597390043	1700	45	2.56702795208214
20	29811964	29811964	A	T	SNP	DEFB115	ENST00000400552	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33503	NULL	0.000	-	-	-	no_errors	DEFB115	HGNC	ENSG00000215547	tier4	198	0	0	274	3	1.08303249097473	100	0	0
20	31211268	31211268	C	A	SNP	C20orf112	ENST00000201961	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38858	NULL	0.012	-	-	-	no_errors	C20orf112	HGNC	ENSG00000197183	tier4	687	0	0	577	480	45.4115421002838	326	58	15.1041666666667
20	31784217	31784217	T	G	SNP	BPIFA4P	ENST00000375465	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	BPIFA4P	HGNC	ENSG00000183566	tier3	1259	0	0	1828	4	0.218221494817239	554	1	0.179856115107914
20	32097179	32097179	T	A	SNP	CBFA2T2	ENST00000375279	human	ensembl	70_37	+1	known	intronic	c.1+19072	e0+19072	0.496	-	-	-	no_errors	CBFA2T2	HGNC	ENSG00000078699	tier4	729	0	0	944	2	0.211416490486258	354	0	0
20	35359011	35359011	T	A	SNP	NDRG3	ENST00000349004	human	ensembl	70_37	-1	known	intronic	c.1-8825	e1-8825	0.000	-	-	-	no_errors	NDRG3	HGNC	ENSG00000101079	tier3	957	0	0	1586	9	0.564263322884012	573	0	0
20	36076058	36076058	A	C	SNP	RPL7AP14	ENST00000424041	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2122	NULL	0.000	-	-	-	no_coding_region:pseudogene	RPL7AP14	HGNC	ENSG00000213979	tier3	404	0	0	519	2	0.383877159309021	245	1	0.40650406504065
20	36260265	36260265	C	T	SNP	LOC100287792	ENST00000373508	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-45047	NULL	0.000	-	-	-	no_errors	RP4-640H8.2	Clone_based_vega_gene	ENSG00000204117	tier3	641	0	0	765	107	12.2565864833906	322	0	0
20	38461143	38461143	A	G	SNP	ENSG00000229976	ENST00000444436	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*19272	NULL	0.001	-	-	-	no_errors	RP5-1031J8.1	Clone_based_vega_gene	ENSG00000229976	tier3	1024	0	0	1334	1	0.0748502994011976	456	5	1.08459869848156
20	38884439	38884439	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	953	0	0	1334	2	0.149588631264024	452	5	1.09409190371991
20	39360176	39360176	A	T	SNP	MAFB	ENST00000373313	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42686	NULL	0.003	-	-	-	no_errors	MAFB	HGNC	ENSG00000204103	tier4	1311	0	0	1713	2	0.11648223645894	502	0	0
20	40637379	40637379	C	T	SNP	ENSG00000225458	ENST00000431589	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP5-1121H13.4	Clone_based_vega_gene	ENSG00000225458	tier4	1215	1	0.0821692686935086	790	623	44.0594059405941	502	143	22.0338983050847
20	42037802	42037802	A	C	SNP	SRSF6	ENST00000244020	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-48872	NULL	0.048	-	-	-	no_errors	SRSF6	HGNC	ENSG00000124193	tier4	352	0	0	501	2	0.397614314115308	211	0	0
20	43467535	43467535	C	T	SNP	RIMS4	ENST00000541604	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-28623	NULL	0.020	-	-	-	no_errors	RIMS4	HGNC	ENSG00000101098	tier3	1064	0	0	862	727	45.7520453115167	443	107	19.4545454545455
20	44191212	44191212	A	C	SNP	WFDC8	ENST00000289953	human	ensembl	70_37	-1	known	intronic	c.27-354	e2-354	0.018	-	-	-	no_errors	WFDC8	HGNC	ENSG00000158901	tier3	478	0	0	653	3	0.457317073170732	295	3	1.00671140939597
20	45811814	45811814	A	G	SNP	EYA2	ENST00000327619	human	ensembl	70_37	+1	known	intronic	c.1436-125	e14-125	0.000	-	-	-	no_errors	EYA2	HGNC	ENSG00000064655	tier4	557	1	0.17921146953405	455	341	42.8391959798995	285	50	14.9253731343284
20	46150321	46150321	A	G	SNP	NCOA3	ENST00000371998	human	ensembl	70_37	+1	known	intronic	c.1+19558	e0+19558	0.465	-	-	-	no_errors	NCOA3	HGNC	ENSG00000124151	tier4	332	0	0	453	1	0.220264317180617	246	2	0.806451612903226
20	47191549	47191549	G	A	SNP	PREX1	ENST00000371941	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*50874	NULL	0.000	-	-	-	no_errors	PREX1	HGNC	ENSG00000124126	tier3	751	0	0	603	488	44.7296058661778	350	60	14.6341463414634
20	48835477	48835477	T	C	SNP	LOC100506115	ENST00000425497	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-48546	NULL	0.004	-	-	-	no_errors	RP11-290F20.3	Clone_based_vega_gene	ENSG00000224397	tier4	378	0	0	539	3	0.553505535055351	224	1	0.444444444444444
20	49597366	49597366	G	T	SNP	ADNP	ENST00000396029	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-76833	NULL	0.001	-	-	-	no_errors	ADNP	HGNC	ENSG00000101126	tier4	725	0	0	1063	1	0.093984962406015	380	4	1.04166666666667
20	51441200	51441200	A	G	SNP	ENSG00000232286	ENST00000426963	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*33677	NULL	0.000	-	-	-	no_errors	RP11-80K6.2	Clone_based_vega_gene	ENSG00000232286	tier3	1659	0	0	1488	689	31.6200091785223	659	0	0
20	52764949	52764949	A	G	SNP	CYP24A1	ENST00000216862	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*8769	NULL	0.001	-	-	-	no_errors	CYP24A1	HGNC	ENSG00000019186	tier4	349	0	0	462	3	0.643776824034335	234	3	1.26582278481013
20	52931190	52931190	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1001	0	0	779	577	42.5516224188791	389	67	14.6288209606987
20	53747120	53747120	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1132	0	0	830	628	43.0431802604524	486	79	13.9329805996473
20	53965717	53965717	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	496	0	0	584	1	0.170940170940171	317	3	0.9375
20	54486496	54486496	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1274	0	0	1762	2	0.113378684807256	459	3	0.649350649350649
20	56443083	56443083	T	C	SNP	MIR4532	ENST00000582082	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27367	NULL	0.000	-	-	-	no_errors	MIR4532	HGNC	ENSG00000263453	tier3	566	0	0	728	2	0.273972602739726	260	3	1.14068441064639
20	57423437	57423437	A	C	SNP	GNAS	ENST00000313949	human	ensembl	70_37	+1	known	intronic	c.738+7496	e1+7496	0.025	-	-	-	no_errors	GNAS	HGNC	ENSG00000087460	tier3	421	0	0	544	6	1.09090909090909	207	5	2.35849056603774
20	59100894	59100894	C	T	SNP	LOC729296	ENST00000437035	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP5-1043L13.1	Clone_based_vega_gene	ENSG00000228340	tier4	1195	0	0	726	560	43.5458786936236	502	85	14.4312393887946
20	60097878	60097878	A	T	SNP	CDH4	ENST00000360469	human	ensembl	70_37	+1	known	intronic	c.170-220741	e3-220741	0.000	-	-	-	no_errors	CDH4	HGNC	ENSG00000179242	tier2	947	0	0	1123	2	0.177777777777778	524	0	0
20	60189068	60189068	T	G	SNP	CDH4	ENST00000360469	human	ensembl	70_37	+1	known	intronic	c.170-129551	e3-129551	0.000	-	-	-	no_errors	CDH4	HGNC	ENSG00000179242	tier3	928	0	0	1233	3	0.242522231204527	354	0	0
20	61082245	61082245	T	G	SNP	GATA5	ENST00000252997	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-31668	NULL	0.000	-	-	-	no_errors	GATA5	HGNC	ENSG00000130700	tier4	867	0	0	1235	6	0.48348106365834	432	4	0.91324200913242
20	61703197	61703197	A	C	SNP	LINC00029	ENST00000370341	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-34817	NULL	0.001	-	-	-	no_errors	LINC00029	HGNC	ENSG00000125514	tier2	271	0	0	367	4	1.07816711590297	147	0	0
20	61973713	61973713	A	C	SNP	ENSG00000203900	ENST00000370257	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-17627	NULL	0.011	-	-	-	no_errors	RP11-261N11.8	Clone_based_vega_gene	ENSG00000203900	tier4	1619	0	0	2392	2	0.0835421888053467	788	0	0
20	62236897	62236897	A	G	SNP	GMEB2	ENST00000266068	human	ensembl	70_37	-1	known	intronic	c.132-704	e2-704	0.536	-	-	-	no_errors	GMEB2	HGNC	ENSG00000101216	tier4	758	0	0	1145	6	0.52128583840139	472	1	0.210526315789474
20	62708572	62708572	A	C	SNP	RGS19	ENST00000332298	human	ensembl	70_37	-1	known	intronic	c.1-265	e1-265	0.257	-	-	-	no_errors	RGS19	HGNC	ENSG00000171700	tier3	194	0	0	291	2	0.68259385665529	108	0	0
21	10513818	10513818	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2719	0	0	3169	3	0.094577553593947	1315	6	0.454201362604088
21	10699142	10699142	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2002	1	0.0499251123315027	2490	2	0.0802568218298555	1071	10	0.923361034164358
21	10699573	10699573	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1901	0	0	2437	2	0.0819672131147541	1395	0	0
21	10702139	10702139	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1231	0	0	1567	3	0.191082802547771	861	2	0.23121387283237
21	10702214	10702214	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1178	0	0	1537	2	0.129954515919428	691	2	0.288600288600289
21	10704411	10704411	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	3230	24	0.736874424316856	4491	21	0.464704580659438	1307	46	3.38983050847458
21	10710181	10710181	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	334	0	0	455	4	0.871459694989107	157	0	0
21	10717648	10717648	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	978	2	0.203873598369011	1173	1	0.0851788756388416	422	10	2.31481481481481
21	10720292	10720292	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1232	0	0	1608	4	0.248138957816377	576	2	0.346020761245675
21	10725048	10725048	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	3168	0	0	4123	2	0.0484613520717228	2214	0	0
21	10725966	10725966	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	468	0	0	686	2	0.290275761973875	414	0	0
21	10753805	10753805	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	146	0	0	202	2	0.980392156862745	86	3	3.37078651685393
21	10757436	10757436	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	349	0	0	371	3	0.802139037433155	160	2	1.23456790123457
21	10759886	10759886	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	140	0	0	185	4	2.05128205128205	82	2	2.32558139534884
21	10759896	10759896	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	160	0	0	218	5	2.24215246636771	96	2	2.04081632653061
21	10759910	10759910	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	179	0	0	228	6	2.5531914893617	97	2	2.02020202020202
21	10759966	10759966	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	205	0	0	235	3	1.25	85	0	0
21	10856514	10856514	C	A	SNP	IGHV1OR21-1	ENST00000559480	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6108	NULL	0.000	-	-	-	no_errors	IGHV1OR21-1	HGNC	ENSG00000169861	tier4	1844	1	0.0541711809317443	2730	1	0.0365764447695684	1309	12	0.907715582450832
21	10856531	10856531	G	T	SNP	IGHV1OR21-1	ENST00000559480	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6091	NULL	0.000	-	-	-	no_errors	IGHV1OR21-1	HGNC	ENSG00000169861	tier4	1698	0	0	2418	3	0.123813454395378	1047	4	0.378429517502365
21	10856544	10856544	T	A	SNP	IGHV1OR21-1	ENST00000559480	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6078	NULL	0.000	-	-	-	no_errors	IGHV1OR21-1	HGNC	ENSG00000169861	tier4	1489	0	0	2077	1	0.0481231953801732	833	8	0.950118764845606
21	10856611	10856611	A	G	SNP	IGHV1OR21-1	ENST00000559480	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-6011	NULL	0.000	-	-	-	no_errors	IGHV1OR21-1	HGNC	ENSG00000169861	tier4	1542	0	0	2062	2	0.0968992248062015	732	2	0.272479564032698
21	10856735	10856735	G	A	SNP	IGHV1OR21-1	ENST00000559480	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5887	NULL	0.000	-	-	-	no_errors	IGHV1OR21-1	HGNC	ENSG00000169861	tier4	2045	0	0	2683	2	0.0744324525493115	1759	9	0.507328072153326
21	10880930	10880930	T	C	SNP	SLC25A15P4	ENST00000456889	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18152	NULL	0.152	-	-	-	no_coding_region:pseudogene	SLC25A15P4	HGNC	ENSG00000223925	tier4	712	0	0	981	2	0.203458799593082	400	0	0
21	10951564	10951564	A	G	SNP	TPTE	ENST00000361285	human	ensembl	70_37	-1	known	intronic	c.285-137	e7-137	0.004	-	-	-	no_errors	TPTE	HGNC	ENSG00000166157	tier3	2453	0	0	3682	3	0.0813890396093326	918	6	0.647948164146868
21	11054246	11054246	A	G	SNP	BAGE2	ENST00000470054	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.002	-	-	-	no_errors	BAGE2	HGNC	ENSG00000187172	tier3	3007	0	0	4005	3	0.074831628835121	1668	0	0
21	11054672	11054672	T	G	SNP	BAGE2	ENST00000470054	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.024	-	-	-	no_errors	BAGE2	HGNC	ENSG00000187172	tier3	2022	0	0	2562	1	0.038971161340608	1477	2	0.135226504394861
21	14353635	14353635	A	C	SNP	ENSG00000229306	ENST00000457565	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*18362	NULL	0.000	-	-	-	no_errors	AP001464.4	Clone_based_vega_gene	ENSG00000229306	tier4	1573	0	0	2129	3	0.140712945590994	1243	0	0
21	14356489	14356489	T	C	SNP	ENSG00000229306	ENST00000457565	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*15508	NULL	0.000	-	-	-	no_errors	AP001464.4	Clone_based_vega_gene	ENSG00000229306	tier4	93	0	0	136	2	1.42857142857143	81	0	0
21	14364092	14364092	T	G	SNP	ANKRD30BP2	ENST00000507941	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46559	NULL	0.000	-	-	-	no_errors	ANKRD30BP2	HGNC	ENSG00000224309	tier4	81	0	0	122	6	4.6875	62	2	3.125
21	15272758	15272758	A	C	SNP	ANKRD20A11P	ENST00000344693	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*43332	NULL	0.342	-	-	-	no_errors	ANKRD20A11P	HGNC	ENSG00000215559	tier4	199	0	0	257	2	0.749063670411985	119	2	1.6260162601626
21	16101003	16101003	A	C	SNP	ENSG00000226751	ENST00000435315	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33028	NULL	0.025	-	-	-	no_errors	AF127936.5	Clone_based_vega_gene	ENSG00000226751	tier4	917	0	0	1323	3	0.226073850791258	471	0	0
21	16584435	16584435	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	837	0	0	1146	2	0.173460537727667	392	3	0.759493670886076
21	16782143	16782143	A	C	SNP	ENSG00000229425	ENST00000449602	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-7519	NULL	0.004	-	-	-	no_errors	AJ006998.2	Clone_based_vega_gene	ENSG00000229425	tier4	1029	0	0	1326	2	0.150489089541008	556	0	0
21	17548301	17548301	A	G	SNP	LINC00478	ENST00000400178	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	LINC00478	HGNC	ENSG00000215386	tier4	1108	0	0	838	677	44.6864686468647	500	98	16.3879598662207
21	17685092	17685092	A	G	SNP	LINC00478	ENST00000400178	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	LINC00478	HGNC	ENSG00000215386	tier4	537	0	0	636	3	0.469483568075117	234	2	0.847457627118644
21	18082370	18082370	G	A	SNP	ENSG00000239023	ENST00000458992	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-8947	NULL	0.770	-	-	-	no_errors	U1	RFAM	ENSG00000239023	tier3	673	0	0	891	4	0.438116100766703	387	6	1.51898734177215
21	18366401	18366401	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1007	1	0.0992063492063492	1150	126	9.85915492957746	598	0	0
21	18475976	18475976	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1413	0	0	1286	578	31.0085836909871	563	0	0
21	18823936	18823936	C	T	SNP	ENSG00000252613	ENST00000516804	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-1063	NULL	0.001	-	-	-	no_errors	U7	RFAM	ENSG00000252613	tier3	1174	1	0.0851063829787234	1562	18	1.13924050632911	502	121	19.422150882825
21	19187523	19187523	T	C	SNP	C21orf91	ENST00000284881	human	ensembl	70_37	-1	known	intronic	c.127+2986	e1+2986	0.000	-	-	-	no_errors	C21orf91	HGNC	ENSG00000154642	tier3	1474	2	0.13550135501355	986	912	48.0252764612954	467	140	22.9885057471264
21	19289526	19289526	T	C	SNP	CHODL	ENST00000400128	human	ensembl	70_37	+1	known	intronic	c.1-11	e1-11	0.303	-	-	-	no_errors	CHODL	HGNC	ENSG00000154645	tier4	684	0	0	914	3	0.327153762268266	386	2	0.515463917525773
21	21125554	21125554	T	G	SNP	ENSG00000229336	ENST00000282964	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*13090	NULL	0.016	-	-	-	no_coding_region:pseudogene	AP000568.2	Clone_based_vega_gene	ENSG00000229336	tier4	913	0	0	1310	2	0.152439024390244	393	1	0.253807106598985
21	22106651	22106651	T	G	SNP	LINC00320	ENST00000416768	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*8257	NULL	0.005	-	-	-	no_errors	LINC00320	HGNC	ENSG00000224924	tier3	1000	0	0	1306	5	0.38109756097561	495	0	0
21	22346183	22346183	C	T	SNP	NCAM2	ENST00000400546	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24699	NULL	0.003	-	-	-	no_errors	NCAM2	HGNC	ENSG00000154654	tier3	1164	0	0	1513	3	0.197889182058048	594	2	0.335570469798658
21	22361911	22361911	G	A	SNP	NCAM2	ENST00000400546	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8971	NULL	0.007	-	-	-	no_errors	NCAM2	HGNC	ENSG00000154654	tier4	842	0	0	1073	18	1.64835164835165	320	91	22.0338983050847
21	22706897	22706897	T	C	SNP	NCAM2	ENST00000400546	human	ensembl	70_37	+1	known	intronic	c.738-928	e7-928	0.007	-	-	-	no_errors	NCAM2	HGNC	ENSG00000154654	tier3	777	0	0	965	2	0.206825232678387	414	4	0.956937799043062
21	23043414	23043414	G	T	SNP	ENSG00000237527	ENST00000416182	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AF241725.6	Clone_based_vega_gene	ENSG00000237527	tier4	675	0	0	793	5	0.6265664160401	359	5	1.37362637362637
21	23463518	23463518	T	G	SNP	ENSG00000233215	ENST00000420255	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.011	-	-	-	no_errors	AP000472.2	Clone_based_vega_gene	ENSG00000233215	tier4	426	0	0	518	2	0.384615384615385	252	0	0
21	24450331	24450331	A	G	SNP	ENSG00000230972	ENST00000421604	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.363	-	-	-	no_errors	AP001255.2	Clone_based_vega_gene	ENSG00000230972	tier4	1705	0	0	2244	2	0.0890471950133571	657	3	0.453172205438067
21	24998975	24998975	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	898	0	0	582	510	46.6605672461116	406	90	18.1451612903226
21	25368592	25368592	T	G	SNP	ENSG00000226996	ENST00000415269	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-46980	NULL	0.006	-	-	-	no_errors	AP000477.3	Clone_based_vega_gene	ENSG00000226996	tier4	1611	1	0.0619962802231866	1061	837	44.0758293838863	569	150	20.8044382801664
21	26342957	26342957	G	T	SNP	LOC339622	ENST00000441009	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AP000235.2	Clone_based_vega_gene	ENSG00000226983	tier3	929	0	0	616	500	44.8028673835125	381	76	16.557734204793
21	26442742	26442742	A	G	SNP	ENSG00000232512	ENST00000418942	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24613	NULL	0.006	-	-	-	no_errors	AP000233.2	Clone_based_vega_gene	ENSG00000232512	tier3	552	0	0	688	3	0.434153400868307	244	1	0.408163265306122
21	26474401	26474401	C	A	SNP	ENSG00000232512	ENST00000418942	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	AP000233.2	Clone_based_vega_gene	ENSG00000232512	tier4	610	0	0	852	2	0.233918128654971	268	5	1.83150183150183
21	26843908	26843908	A	C	SNP	LINC00158	ENST00000332587	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-39895	NULL	0.001	-	-	-	no_errors	LINC00158	HGNC	ENSG00000185433	tier3	891	0	0	1270	2	0.157232704402516	481	0	0
21	27024229	27024229	T	G	SNP	JAM2	ENST00000312957	human	ensembl	70_37	+1	known	intronic	c.67+12029	e1+12029	0.019	-	-	-	no_errors	JAM2	HGNC	ENSG00000154721	tier3	1279	0	0	1765	3	0.169587337478802	585	1	0.170648464163823
21	29601824	29601824	T	G	SNP	ENSG00000236532	ENST00000437194	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-1025	NULL	0.001	-	-	-	no_errors	AL035610.2	Clone_based_vega_gene	ENSG00000236532	tier3	1478	1	0.0676132521974307	1036	841	44.8055407565264	514	142	21.6463414634146
21	29726545	29726545	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	999	0	0	1319	2	0.151400454201363	449	1	0.222222222222222
21	30025715	30025715	T	C	SNP	ENSG00000232855	ENST00000433310	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	AF131217.1	Clone_based_vega_gene	ENSG00000232855	tier4	995	1	0.100401606425703	762	608	44.3795620437956	420	76	15.2610441767068
21	30978328	30978328	G	A	SNP	GRIK1	ENST00000535441	human	ensembl	70_37	-1	known	intronic	c.1103-4779	e8-4779	0.029	-	-	-	no_errors	GRIK1	HGNC	ENSG00000171189	tier4	476	0	0	666	4	0.595238095238095	303	0	0
21	31584494	31584494	T	C	SNP	CLDN17	ENST00000286808	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-45559	NULL	0.001	-	-	-	no_errors	CLDN17	HGNC	ENSG00000156282	tier3	1741	0	0	1234	959	43.7101185050137	698	133	15.9663865546218
21	31773632	31773632	C	A	SNP	KRTAP13-2	ENST00000399889	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-29101	NULL	0.000	-	-	-	no_errors	KRTAP13-2	HGNC	ENSG00000182816	tier3	706	0	0	914	4	0.435729847494553	372	2	0.53475935828877
21	32010607	32010607	A	T	SNP	KRTAP6-1	ENST00000329122	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-24384	NULL	0.001	-	-	-	no_errors	KRTAP6-1	HGNC	ENSG00000184724	tier4	1247	0	0	1224	472	27.8137890394814	661	0	0
21	32437024	32437024	C	T	SNP	KRTAP19-8	ENST00000382822	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26262	NULL	0.003	-	-	-	no_errors	KRTAP19-8	HGNC	ENSG00000206102	tier3	1083	2	0.184162062615101	817	660	44.6549391069012	514	83	13.8564273789649
21	32641235	32641235	T	C	SNP	TIAM1	ENST00000286827	human	ensembl	70_37	-1	known	intronic	c.1-1936	e1-1936	0.415	-	-	-	no_errors	TIAM1	HGNC	ENSG00000156299	tier3	1745	0	0	1380	1202	46.5350367789392	709	165	18.8141391106043
21	33656402	33656402	C	T	SNP	MIS18A	ENST00000290130	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-5077	NULL	0.000	-	-	-	no_errors	MIS18A	HGNC	ENSG00000159055	tier3	511	0	0	322	291	47.4714518760196	240	40	14.2857142857143
21	35013041	35013041	G	C	SNP	CRYZL1	ENST00000381554	human	ensembl	70_37	-1	known	intronic	c.1+946	e0+946	0.000	-	-	-	no_errors	CRYZL1	HGNC	ENSG00000205758	tier4	340	0	0	531	3	0.559701492537313	238	0	0
21	38429346	38429346	C	T	SNP	TTC3	ENST00000354749	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30212	NULL	0.001	-	-	-	no_errors	TTC3	HGNC	ENSG00000182670	tier3	533	0	0	372	299	44.5603576751118	307	59	16.120218579235
21	39305359	39305359	A	G	SNP	KCNJ6	ENST00000288309	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-92375	NULL	0.100	-	-	-	no_errors	KCNJ6	HGNC	ENSG00000157542	tier4	1240	0	0	899	698	43.6522826766729	531	114	17.6744186046512
21	40410931	40410931	A	G	SNP	ENSG00000235888	ENST00000417335	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-32852	NULL	0.001	-	-	-	no_errors	AF064858.8	Clone_based_vega_gene	ENSG00000235888	tier4	465	0	0	642	1	0.15552099533437	265	2	0.749063670411985
21	40600847	40600847	A	C	SNP	BRWD1	ENST00000333229	human	ensembl	70_37	-1	known	intronic	c.3126-339	e27-339	0.001	-	-	-	no_errors	BRWD1	HGNC	ENSG00000185658	tier4	582	0	0	945	4	0.421496311907271	327	3	0.909090909090909
21	40934081	40934081	G	A	SNP	B3GALT5	ENST00000380620	human	ensembl	70_37	+1	known	intronic	c.1+5644	e0+5644	0.000	-	-	-	no_errors	B3GALT5	HGNC	ENSG00000183778	tier4	1199	0	0	987	760	43.50314825415	513	95	15.625
21	41476086	41476086	A	C	SNP	DSCAM	ENST00000400454	human	ensembl	70_37	-1	known	intronic	c.3697-10285	e21-10285	0.000	-	-	-	no_errors	DSCAM	HGNC	ENSG00000171587	tier2	924	0	0	1247	5	0.399361022364217	313	2	0.634920634920635
21	41506442	41506442	A	C	SNP	DSCAM	ENST00000400454	human	ensembl	70_37	-1	known	intronic	c.3407-506	e19-506	0.006	-	-	-	no_errors	DSCAM	HGNC	ENSG00000171587	tier3	1100	0	0	757	534	41.3632842757552	387	98	20.2061855670103
21	42019103	42019103	C	T	SNP	DSCAM	ENST00000400454	human	ensembl	70_37	-1	known	intronic	c.508+45633	e3+45633	0.000	-	-	-	no_errors	DSCAM	HGNC	ENSG00000171587	tier3	1399	3	0.213675213675214	916	731	44.3567961165049	525	115	17.9127725856698
21	42902226	42902226	A	G	SNP	TMPRSS2	ENST00000489201	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_coding_region	TMPRSS2	HGNC	ENSG00000184012	tier3	1313	0	0	962	818	45.9292532285233	610	124	16.8937329700272
21	43898583	43898583	T	G	SNP	RSPH1	ENST00000291536	human	ensembl	70_37	-1	known	intronic	c.574-1029	e7-1029	0.000	-	-	-	no_errors	RSPH1	HGNC	ENSG00000160188	tier4	822	0	0	1195	5	0.416666666666667	334	1	0.298507462686567
21	46483196	46483196	G	A	SNP	ADARB1	ENST00000496664	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-108376	NULL	0.138	-	-	-	no_errors	ADARB1	HGNC	ENSG00000197381	tier4	1182	3	0.252951096121417	878	752	46.050214329455	478	133	21.7675941080196
21	46861899	46861899	A	T	SNP	COL18A1	ENST00000400337	human	ensembl	70_37	+1	known	intronic	c.107-26257	e3-26257	0.091	-	-	-	no_errors	COL18A1	HGNC	ENSG00000182871	tier3	240	0	0	246	97	28.2798833819242	156	0	0
21	46875534	46875534	G	A	SNP	COL18A1	ENST00000359759	human	ensembl	70_37	+1	known	nonsense	c.90	p.W30*	0.234	pfam_DUF959_COL18_N	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	-	no_errors	COL18A1	HGNC	ENSG00000182871	tier1	235	0	0	219	79	26.510067114094	148	0	0
21	46875534	46875534	G	A	SNP	COL18A1	ENST00000359759	human	ensembl	70_37	+1	known	nonsense	c.90	p.W30*	0.234	pfam_DUF959_COL18_N	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	-	no_errors	COL18A1	HGNC	ENSG00000182871	tier1	866	0	0	560	200	26.3157894736842	916	1	0.109051254089422
22	16555108	16555108	C	T	SNP	ENSG00000265270	ENST00000581323	human	ensembl	70_37	-1	novel	3_prime_flanking_region	c.*21001	NULL	0.000	-	-	-	no_errors	AP000539.2	Clone_based_ensembl_gene	ENSG00000265270	tier4	460	0	0	564	7	1.22591943957968	295	62	17.2701949860724
22	19714160	19714160	C	G	SNP	TBX1	ENST00000329705	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33007	NULL	0.001	-	-	-	no_errors	TBX1	HGNC	ENSG00000184058	tier2	260	0	0	263	2	0.754716981132075	185	8	4.04040404040404
22	21149482	21149482	C	T	SNP	PI4KA	ENST00000255882	human	ensembl	70_37	-1	known	intronic	c.2277+952	e18+952	0.088	-	-	-	no_errors	PI4KA	HGNC	ENSG00000241973	tier4	1085	0	0	1663	2	0.11997600479904	584	0	0
22	22100897	22100897	A	T	SNP	YPEL1	ENST00000339468	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-35864	NULL	0.048	-	-	-	no_errors	YPEL1	HGNC	ENSG00000100027	tier4	1263	0	0	1974	2	0.101112234580384	557	0	0
22	25121386	25121386	T	G	SNP	PIWIL3	ENST00000332271	human	ensembl	70_37	-1	known	intronic	c.2107+26	e16+26	0.000	-	-	-	no_errors	PIWIL3	HGNC	ENSG00000184571	tier3	631	0	0	918	3	0.325732899022801	352	0	0
22	26079790	26079790	C	T	SNP	ADRBK2	ENST00000324198	human	ensembl	70_37	+1	known	intronic	c.748-1347	e10-1347	0.000	-	-	-	no_errors	ADRBK2	HGNC	ENSG00000100077	tier4	704	0	0	997	3	0.2997002997003	349	2	0.56657223796034
22	26216796	26216796	A	C	SNP	MYO18B	ENST00000335473	human	ensembl	70_37	+1	known	intronic	c.2522-2676	e12-2676	0.000	-	-	-	no_errors	MYO18B	HGNC	ENSG00000133454	tier4	505	0	0	690	3	0.432276657060519	299	0	0
22	26464418	26464418	G	C	SNP	MYO18B	ENST00000335473	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*40774	NULL	0.002	-	-	-	no_errors	MYO18B	HGNC	ENSG00000133454	tier4	666	0	0	807	4	0.493218249075216	326	0	0
22	27669144	27669144	G	A	SNP	ENSG00000233521	ENST00000418271	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-48526	NULL	0.000	-	-	-	no_errors	RP5-1172A22.1	Clone_based_vega_gene	ENSG00000233521	tier4	995	0	0	1186	30	2.46507806080526	528	0	0
22	27674684	27674684	T	G	SNP	ENSG00000233574	ENST00000449126	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	CTA-929C8.5	Clone_based_vega_gene	ENSG00000233574	tier3	786	0	0	544	320	37.037037037037	292	41	12.3123123123123
22	27971734	27971734	A	C	SNP	ENSG00000224027	ENST00000415655	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-2200	NULL	0.000	-	-	-	no_errors	RP1-231P7P.1	Clone_based_vega_gene	ENSG00000224027	tier2	865	0	0	1175	2	0.169779286926995	449	0	0
22	29309292	29309292	C	A	SNP	ZNRF3	ENST00000544604	human	ensembl	70_37	+1	known	intronic	c.300+29238	e1+29238	0.016	-	-	-	no_errors	ZNRF3	HGNC	ENSG00000183579	tier4	576	0	0	503	449	47.1638655462185	358	64	15.1658767772512
22	29705386	29705386	A	C	SNP	GAS2L1	ENST00000403764	human	ensembl	70_37	+1	known	intronic	c.633+658	e1+658	0.031	-	-	-	no_errors	GAS2L1	HGNC	ENSG00000185340	tier3	181	0	0	287	3	1.03448275862069	156	0	0
22	29758621	29758621	A	C	SNP	AP1B1	ENST00000357586	human	ensembl	70_37	-1	known	intronic	c.143+369	e2+369	0.072	-	-	-	no_errors	AP1B1	HGNC	ENSG00000100280	tier4	857	0	0	1341	2	0.148809523809524	420	0	0
22	29964962	29964962	C	T	SNP	NIPSNAP1	ENST00000216121	human	ensembl	70_37	-1	known	intronic	c.367+220	e4+220	0.013	-	-	-	no_errors	NIPSNAP1	HGNC	ENSG00000184117	tier4	809	1	0.123456790123457	716	570	44.3234836702955	413	63	13.1799163179916
22	30312155	30312155	G	T	SNP	MTMR3	ENST00000401950	human	ensembl	70_37	+1	known	intronic	c.1+32807	e0+32807	0.021	-	-	-	no_errors	MTMR3	HGNC	ENSG00000100330	tier3	1256	2	0.158982511923688	989	808	44.9388209121246	590	121	16.9705469845722
22	30947902	30947902	A	G	SNP	SEC14L4	ENST00000255858	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-46304	NULL	0.011	-	-	-	no_errors	SEC14L4	HGNC	ENSG00000133488	tier3	757	0	0	1225	3	0.244299674267101	432	0	0
22	31117569	31117569	A	C	SNP	OSBP2	ENST00000332585	human	ensembl	70_37	+1	known	intronic	c.645-19579	e2-19579	0.006	-	-	-	no_errors	OSBP2	HGNC	ENSG00000184792	tier3	552	1	0.180505415162455	872	5	0.568828213879408	267	9	3.26086956521739
22	31561631	31561631	A	C	SNP	RNF185	ENST00000326132	human	ensembl	70_37	+1	known	intronic	c.1+5342	e0+5342	0.046	-	-	-	no_errors	RNF185	HGNC	ENSG00000138942	tier3	561	0	0	912	6	0.65359477124183	352	6	1.67597765363128
22	31669691	31669691	T	G	SNP	LIMK2	ENST00000331728	human	ensembl	70_37	+1	known	intronic	c.1614+198	e14+198	0.001	-	-	-	no_errors	LIMK2	HGNC	ENSG00000182541	tier4	722	0	0	1106	2	0.180505415162455	305	0	0
22	34157798	34157798	C	T	SNP	LARGE	ENST00000354992	human	ensembl	70_37	-1	known	intronic	c.1-253	e1-253	0.000	-	-	-	no_errors	LARGE	HGNC	ENSG00000133424	tier4	1544	5	0.322788896061975	1043	876	45.625	541	96	15.0234741784038
22	36544119	36544119	A	C	SNP	APOL3	ENST00000349314	human	ensembl	70_37	-1	known	intronic	c.224-2472	e2-2472	0.003	-	-	-	no_errors	APOL3	HGNC	ENSG00000128284	tier4	461	0	0	654	3	0.45662100456621	266	0	0
22	37411893	37411893	A	G	SNP	TST	ENST00000249042	human	ensembl	70_37	-1	known	intronic	c.595+2286	e1+2286	0.000	-	-	-	no_errors	TST	HGNC	ENSG00000128311	tier3	648	0	0	903	3	0.33112582781457	347	0	0
22	38787549	38787549	A	G	SNP	CSNK1E	ENST00000400206	human	ensembl	70_37	-1	known	intronic	c.1+6894	e0+6894	0.120	-	-	-	no_errors	CSNK1E	HGNC	ENSG00000213923	tier3	924	0	0	785	671	46.0851648351648	360	96	21.0526315789474
22	39264632	39264632	T	G	SNP	CBX6	ENST00000407418	human	ensembl	70_37	-1	known	intronic	c.247-1426	e5-1426	0.002	-	-	-	no_errors	CBX6	HGNC	ENSG00000183741	tier2	829	0	0	1349	3	0.22189349112426	414	2	0.480769230769231
22	40656991	40656991	T	G	SNP	TNRC6B	ENST00000454349	human	ensembl	70_37	+1	known	intronic	c.116-845	e4-845	0.049	-	-	-	no_errors	TNRC6B	HGNC	ENSG00000100354	tier3	1414	0	0	2352	2	0.0849256900212314	685	2	0.291120815138282
22	40797287	40797287	C	T	SNP	SGSM3	ENST00000248929	human	ensembl	70_37	+1	known	intronic	c.8-310	e2-310	0.012	-	-	-	no_errors	SGSM3	HGNC	ENSG00000100359	tier4	729	0	0	563	562	49.8669032830523	300	92	23.2323232323232
22	41189056	41189056	T	A	SNP	SLC25A17	ENST00000435456	human	ensembl	70_37	-1	known	intronic	c.183-376	e4-376	0.000	-	-	-	no_errors	SLC25A17	HGNC	ENSG00000100372	tier4	555	0	0	835	2	0.2389486260454	369	2	0.539083557951483
22	43297051	43297051	A	C	SNP	PACSIN2	ENST00000263246	human	ensembl	70_37	-1	known	intronic	c.61-7432	e2-7432	0.000	-	-	-	no_errors	PACSIN2	HGNC	ENSG00000100266	tier3	726	0	0	1256	2	0.158856235107228	444	1	0.224719101123596
22	43666944	43666944	A	C	SNP	SCUBE1	ENST00000360835	human	ensembl	70_37	-1	known	intronic	c.485-8093	e5-8093	0.000	-	-	-	no_errors	SCUBE1	HGNC	ENSG00000159307	tier3	213	0	0	330	2	0.600600600600601	126	0	0
22	44864788	44864788	T	C	SNP	LDOC1L	ENST00000341255	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*27929	NULL	0.018	-	-	-	no_errors	LDOC1L	HGNC	ENSG00000188636	tier4	1781	0	0	2512	2	0.0795544948289578	767	0	0
22	44962813	44962813	A	G	SNP	LINC00207	ENST00000460077	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-3118	NULL	0.018	-	-	-	no_errors	LINC00207	HGNC	ENSG00000187012	tier3	673	0	0	866	115	11.7227319062181	414	0	0
22	45148871	45148871	T	G	SNP	ARHGAP8	ENST00000517296	human	ensembl	70_37	+1	known	intronic	c.691+17829	e7+17829	0.000	-	-	-	no_errors	ARHGAP8	HGNC	ENSG00000241484	tier2	490	0	0	446	209	31.9083969465649	423	0	0
22	47123729	47123729	C	A	SNP	CERK	ENST00000216264	human	ensembl	70_37	-1	known	intronic	c.143-6817	e2-6817	0.002	-	-	-	no_errors	CERK	HGNC	ENSG00000100422	tier3	145	0	0	259	3	1.14503816793893	117	2	1.68067226890756
22	47282137	47282137	A	G	SNP	TBC1D22A	ENST00000337137	human	ensembl	70_37	+1	known	intronic	c.709-5025	e6-5025	0.001	-	-	-	no_errors	TBC1D22A	HGNC	ENSG00000054611	tier3	695	1	0.14367816091954	481	363	43.0094786729858	305	64	17.3441734417344
22	48556830	48556830	C	T	SNP	ENSG00000238192	ENST00000414483	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-20012	NULL	0.000	-	-	-	no_errors	LL22NC03-121E8.4	Clone_based_vega_gene	ENSG00000238192	tier4	875	1	0.114155251141553	664	555	45.5291222313372	363	88	19.5121951219512
22	50437235	50437235	C	T	SNP	IL17REL	ENST00000341280	human	ensembl	70_37	-1	known	intronic	c.601+485	e6+485	0.928	-	-	-	no_errors	IL17REL	HGNC	ENSG00000188263	tier3	473	0	0	344	310	47.4006116207951	258	67	20.6153846153846
GL000193.1	78283	78283	C	T	SNP	ENSG00000215689	ENST00000400767	human	ensembl	70_37	-1	known	intronic	c.79-2608	e2-2608	NULL	-	-	-	no_errors	MGC39584	Uniprot_genename	ENSG00000215689	tier3	232	0	0	259	8	2.99625468164794	213	4	1.84331797235023
GL000193.1	84319	84319	C	G	SNP	ENSG00000215689	ENST00000400767	human	ensembl	70_37	-1	known	intronic	c.78+3881	e1+3881	NULL	-	-	-	no_errors	MGC39584	Uniprot_genename	ENSG00000215689	tier3	281	0	0	291	6	2.0066889632107	200	0	0
GL000194.1	182496	182496	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2798	0	0	3761	5	0.129032258064516	1773	0	0
GL000198.1	642	642	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	157	0	0	218	1	0.45662100456621	148	8	5.12820512820513
GL000199.1	23870	23870	A	T	SNP	ENSG00000221597	ENST00000408670	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*22611	NULL	NULL	-	-	-	no_errors	BX088702.1	Clone_based_ensembl_gene	ENSG00000221597	tier3	102	0	0	121	2	1.6260162601626	73	2	2.66666666666667
GL000199.1	34656	34656	A	G	SNP	ENSG00000221597	ENST00000408670	human	ensembl	70_37	+1	novel	3_prime_flanking_region	c.*33397	NULL	NULL	-	-	-	no_errors	BX088702.1	Clone_based_ensembl_gene	ENSG00000221597	tier3	199	0	0	301	2	0.66006600660066	68	0	0
GL000199.1	120781	120781	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	88	0	0	163	2	1.20481927710843	52	0	0
GL000199.1	120832	120832	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	112	0	0	184	2	1.0752688172043	67	0	0
GL000199.1	138193	138193	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	70	0	0	123	2	1.6	39	0	0
GL000208.1	90627	90627	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	832	0	0	1287	6	0.464037122969838	582	0	0
GL000208.1	92522	92522	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	680	0	0	1173	3	0.255102040816327	499	2	0.397614314115308
GL000214.1	122769	122769	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	295	0	0	421	7	1.63551401869159	249	0	0
GL000214.1	125087	125087	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1736	0	0	2562	3	0.116867939228672	1411	0	0
GL000214.1	125106	125106	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1773	0	0	2542	2	0.0785854616895874	1285	2	0.15527950310559
GL000214.1	127571	127571	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	2566	0	0	3692	2	0.0541125541125541	2016	0	0
GL000214.1	127724	127724	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1601	0	0	2428	2	0.0821692686935086	709	0	0
GL000214.1	129051	129051	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1114	0	0	1641	12	0.725952813067151	779	2	0.255427841634738
GL000214.1	135071	135071	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	617	0	0	840	11	1.29259694477086	345	0	0
GL000216.1	142007	142007	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	119	0	0	173	2	1.09289617486339	80	2	2.4390243902439
GL000218.1	48327	48327	A	T	SNP	ENSG00000215615	ENST00000400681	human	ensembl	70_37	-1	known	intronic	c.58-7455	e2-7455	NULL	-	-	-	no_stop_codon	AL354822.1	Clone_based_ensembl_gene	ENSG00000215615	tier3	133	0	0	148	3	1.98675496688742	65	1	1.51515151515152
GL000219.1	110554	110554	C	T	SNP	LOC100996779	ENST00000418749	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-22194	NULL	NULL	-	-	-	no_errors	AL592183.1	Clone_based_ensembl_gene	ENSG00000220023	tier3	3261	0	0	4234	3	0.0707714083510262	1900	0	0
GL000220.1	102222	102222	T	C	SNP	RNA5-8S5	ENST00000474885	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9803	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000242716	tier3	2254	0	0	2868	3	0.104493207941484	709	0	0
GL000220.1	102652	102652	T	G	SNP	RNA5-8S5	ENST00000474885	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-9373	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000242716	tier3	840	0	0	1063	2	0.187793427230047	394	3	0.755667506297229
GL000220.1	117287	117287	T	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-38710	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	3037	0	0	3999	1	0.0249937515621095	2156	2	0.0925925925925926
GL000220.1	117356	117356	C	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-38641	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	1829	0	0	2463	2	0.08110300081103	1173	0	0
GL000220.1	118266	118266	G	C	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-37731	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	891	0	0	1101	2	0.180995475113122	655	0	0
GL000220.1	119231	119231	T	C	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-36766	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	2564	0	0	3787	2	0.0527843758247559	833	2	0.239520958083832
GL000220.1	122620	122620	C	A	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-33377	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	2522	0	0	3134	2	0.0637348629700446	1838	0	0
GL000220.1	124372	124372	T	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-31625	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	2243	0	0	2995	4	0.133288903698767	1192	6	0.498338870431894
GL000220.1	125720	125720	T	C	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30277	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	3552	0	0	4774	2	0.0418497593638837	1892	1	0.0527148128624143
GL000220.1	128337	128337	C	T	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-27660	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	1464	0	0	1927	2	0.103573278094252	469	0	0
GL000220.1	130387	130387	C	T	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25610	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	1546	0	0	1915	3	0.156331422615946	651	2	0.305343511450382
GL000220.1	130860	130860	A	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-25137	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	1587	0	0	1964	3	0.152439024390244	596	2	0.334448160535117
GL000220.1	131614	131614	C	T	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-24383	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	1133	0	0	1592	3	0.18796992481203	445	0	0
GL000220.1	134294	134294	C	T	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21703	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	3531	0	0	4473	2	0.0446627958910228	2399	2	0.0831946755407654
GL000220.1	134301	134301	C	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21696	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	3530	0	0	4494	2	0.0444642063139173	2353	0	0
GL000220.1	134473	134473	T	C	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-21524	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	3159	0	0	4099	4	0.0974658869395711	2282	4	0.174901617839965
GL000220.1	135505	135505	G	A	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-20492	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	2462	0	0	2799	2	0.0714030703320243	1506	4	0.2636783124588
GL000220.1	140390	140390	A	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15607	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	3263	0	0	4064	2	0.049176297024834	2396	0	0
GL000220.1	143676	143676	A	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12321	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	2309	0	0	3183	3	0.0940733772342427	938	0	0
GL000220.1	145311	145311	A	G	SNP	RNA5-8S5	ENST00000459522	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-10686	NULL	NULL	-	-	-	no_errors	RNA5-8S5	HGNC	ENSG00000241335	tier3	1874	0	0	2407	5	0.207296849087894	588	0	0
GL000224.1	490	490	A	G	SNP	ENSG00000239196	ENST00000459457	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-42886	NULL	NULL	-	-	-	no_errors	AL591856.3	Clone_based_ensembl_gene	ENSG00000239196	tier3	2210	0	0	2991	3	0.10016694490818	1395	0	0
GL000224.1	3349	3349	A	C	SNP	ENSG00000239196	ENST00000459457	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-40027	NULL	NULL	-	-	-	no_errors	AL591856.3	Clone_based_ensembl_gene	ENSG00000239196	tier3	2202	0	0	3343	3	0.0896592946802152	1325	0	0
GL000224.1	4143	4143	A	G	SNP	ENSG00000239196	ENST00000459457	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-39233	NULL	NULL	-	-	-	no_errors	AL591856.3	Clone_based_ensembl_gene	ENSG00000239196	tier3	952	0	0	1359	2	0.146627565982405	667	0	0
GL000224.1	5244	5244	A	G	SNP	ENSG00000239196	ENST00000459457	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-38132	NULL	NULL	-	-	-	no_errors	AL591856.3	Clone_based_ensembl_gene	ENSG00000239196	tier3	2107	0	0	3202	2	0.0624219725343321	1566	0	0
GL000224.1	5290	5290	A	G	SNP	ENSG00000239196	ENST00000459457	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-38086	NULL	NULL	-	-	-	no_errors	AL591856.3	Clone_based_ensembl_gene	ENSG00000239196	tier3	2130	0	0	2990	2	0.0668449197860963	1477	1	0.0674763832658569
GL000224.1	13827	13827	T	C	SNP	ENSG00000239196	ENST00000459457	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-29549	NULL	NULL	-	-	-	no_errors	AL591856.3	Clone_based_ensembl_gene	ENSG00000239196	tier3	834	0	0	1304	3	0.229533282325937	658	6	0.903614457831325
GL000225.1	7680	7680	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	252	0	0	320	2	0.619195046439629	230	0	0
GL000225.1	40687	40687	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	74	0	0	100	5	4.71698113207547	27	0	0
GL000225.1	58166	58166	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	75	0	0	103	2	1.88679245283019	110	0	0
GL000225.1	75032	75032	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	85	0	0	118	2	1.65289256198347	42	0	0
GL000225.1	75033	75033	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	87	0	0	118	2	1.66666666666667	41	0	0
GL000225.1	92105	92105	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	149	0	0	168	3	1.72413793103448	40	0	0
GL000225.1	92273	92273	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	91	0	0	119	3	2.41935483870968	17	0	0
GL000225.1	99517	99517	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	151	0	0	222	5	2.19298245614035	101	0	0
GL000225.1	140777	140777	G	T	SNP	ENSG00000238850	ENST00000459529	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-42475	NULL	NULL	-	-	-	no_errors	U2	RFAM	ENSG00000238850	tier3	133	0	0	164	2	1.19760479041916	107	2	1.8348623853211
GL000226.1	36	36	T	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	155	0	0	200	4	1.91387559808612	80	0	0
GL000229.1	11101	11101	A	T	SNP	ENSG00000238643	ENST00000459109	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-6184	NULL	NULL	-	-	-	no_errors	CT978678.1	Clone_based_ensembl_gene	ENSG00000238643	tier3	1011	0	0	1210	14	1.1437908496732	571	2	0.347222222222222
GL000232.1	31308	31308	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	1254	0	0	1600	2	0.124843945068664	689	0	0
MT	3380	3380	G	A	SNP	MT-ND1	ENST00000361390	human	ensembl	70_37	+1	known	missense	c.74	p.R25Q	NULL	pfam_NADH_UbQ_OxRdtase_su1/FPO	pfam_NADH_UbQ_OxRdtase_su1/FPO	-	no_stop_codon	MT-ND1	HGNC	ENSG00000198888	tier1	395	0	0	113	3	2.58620689655172	64	0	0
X	188068	188068	G	A	SNP	PLCXD1	ENST00000381657	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-12787	NULL	0.441	-	-	-	no_errors	PLCXD1	HGNC	ENSG00000182378	tier3	156	0	0	297	2	0.668896321070234	143	4	2.68456375838926
X	1009817	1009817	C	T	SNP	RPL14P5	ENST00000436474	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38981	NULL	0.002	-	-	-	no_coding_region:pseudogene	RPL14P5	HGNC	ENSG00000225661	tier3	794	0	0	652	551	45.8021612635079	426	82	16.1417322834646
X	11095899	11095899	C	G	SNP	ENSG00000234129	ENST00000433747	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.001	-	-	-	no_errors	RP11-120D5.1	Clone_based_vega_gene	ENSG00000234129	tier4	236	0	0	228	2	0.869565217391304	135	0	0
X	11563037	11563037	C	T	SNP	ARHGAP6	ENST00000337414	human	ensembl	70_37	-1	known	intronic	c.588+119324	e1+119324	0.034	-	-	-	no_errors	ARHGAP6	HGNC	ENSG00000047648	tier3	699	0	0	45	731	94.0797940797941	208	95	31.3531353135314
X	12796510	12796510	A	G	SNP	PRPS2	ENST00000398491	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-13107	NULL	0.039	-	-	-	no_errors	PRPS2	HGNC	ENSG00000101911	tier3	532	0	0	697	4	0.56980056980057	170	2	1.16279069767442
X	12989004	12989004	C	A	SNP	TMSB4X	ENST00000380633	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-5377	NULL	0.000	-	-	-	no_errors	TMSB4X	HGNC	ENSG00000205542	tier4	834	0	0	1096	2	0.181818181818182	235	0	0
X	18080824	18080824	G	A	SNP	ENSG00000225882	ENST00000453902	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.000	-	-	-	no_errors	RP3-410B11.1	Clone_based_vega_gene	ENSG00000225882	tier4	345	0	0	24	375	93.984962406015	119	55	31.6091954022989
X	20027352	20027352	G	T	SNP	MAP7D2	ENST00000379643	human	ensembl	70_37	-1	known	intronic	c.2322-836	e17-836	0.001	-	-	-	no_errors	MAP7D2	HGNC	ENSG00000184368	tier3	197	0	0	264	3	1.12359550561798	128	0	0
X	22481519	22481519	G	C	SNP	ENSG00000233067	ENST00000455399	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.007	-	-	-	no_errors	RP11-40F8.2	Clone_based_vega_gene	ENSG00000233067	tier4	968	0	0	75	900	92.3076923076923	238	113	32.1937321937322
X	22844928	22844928	C	T	SNP	ENSG00000233067	ENST00000455399	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.029	-	-	-	no_errors	RP11-40F8.2	Clone_based_vega_gene	ENSG00000233067	tier3	789	0	0	49	848	94.5373467112598	175	122	40.8026755852843
X	23013477	23013477	C	T	SNP	ENSG00000233067	ENST00000455399	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.017	-	-	-	no_errors	RP11-40F8.2	Clone_based_vega_gene	ENSG00000233067	tier3	748	0	0	47	772	94.2612942612943	164	126	43.448275862069
X	23762020	23762020	A	C	SNP	ACOT9	ENST00000379295	human	ensembl	70_37	-1	known	intronic	c.1-7887	e1-7887	0.000	-	-	-	no_errors	ACOT9	HGNC	ENSG00000123130	tier4	522	0	0	698	4	0.56980056980057	289	0	0
X	27267778	27267778	A	G	SNP	ENSG00000228933	ENST00000422048	human	ensembl	70_37	-1	known	intronic	c.NULL	NULL	0.980	-	-	-	no_errors	RP11-268G12.1	Clone_based_vega_gene	ENSG00000228933	tier3	1050	0	0	1238	31	2.44286840031521	266	150	35.8851674641148
X	27500634	27500634	G	A	SNP	ENSG00000238247	ENST00000367074	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-35367	NULL	0.020	-	-	-	no_coding_region:pseudogene	GS1-309P15.4	Clone_based_vega_gene	ENSG00000238247	tier3	463	1	0.21551724137931	25	598	95.9871589085072	147	111	43.0232558139535
X	30525771	30525771	A	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	595	0	0	786	2	0.253485424588086	280	1	0.354609929078014
X	31911789	31911789	T	G	SNP	DMD	ENST00000357033	human	ensembl	70_37	-1	known	intronic	c.6913-18299	e48-18299	0.000	-	-	-	no_errors	DMD	HGNC	ENSG00000198947	tier3	543	0	0	622	4	0.638977635782748	200	0	0
X	33311782	33311782	A	C	SNP	DMD	ENST00000288447	human	ensembl	70_37	-1	putative	intronic	c.7+45594	e1+45594	0.000	-	-	-	no_errors	DMD	HGNC	ENSG00000198947	tier3	710	0	0	926	1	0.107874865156419	278	2	0.714285714285714
X	33320344	33320344	C	A	SNP	DMD	ENST00000288447	human	ensembl	70_37	-1	putative	intronic	c.7+37032	e1+37032	0.004	-	-	-	no_errors	DMD	HGNC	ENSG00000198947	tier4	509	0	0	466	145	23.7315875613748	240	0	0
X	39224480	39224480	A	C	SNP	LOC286442	ENST00000429281	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-37865	NULL	0.000	-	-	-	no_errors	RP11-265P11.2	Clone_based_vega_gene	ENSG00000235304	tier3	629	0	0	701	3	0.426136363636364	138	0	0
X	44049947	44049947	G	A	SNP	EFHC2	ENST00000333807	human	ensembl	70_37	-1	known	intronic	c.1752-12137	e12-12137	0.001	-	-	-	no_errors	EFHC2	HGNC	ENSG00000183690	tier4	326	0	0	368	2	0.540540540540541	189	2	1.04712041884817
X	47326282	47326282	A	C	SNP	ZNF41	ENST00000397050	human	ensembl	70_37	-1	known	intronic	c.62+527	e1+527	0.000	-	-	-	no_errors	ZNF41	HGNC	ENSG00000147124	tier3	295	0	0	468	1	0.212765957446809	157	2	1.25786163522013
X	61682351	61682351	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	568	0	0	768	2	0.259403372243839	315	4	1.25391849529781
X	61685260	61685260	G	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1059	0	0	1423	4	0.279916025192442	637	2	0.312989045383412
X	61691170	61691170	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	92	0	0	121	2	1.6260162601626	48	0	0
X	61728340	61728340	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	125	0	0	198	2	1	60	1	1.63934426229508
X	66419680	66419680	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	797	0	0	64	930	93.4673366834171	244	108	30.6818181818182
X	74028690	74028690	A	G	SNP	KIAA2022	ENST00000055682	human	ensembl	70_37	-1	known	intronic	c.1-63158	e1-63158	0.002	-	-	-	no_errors	KIAA2022	HGNC	ENSG00000050030	tier3	467	0	0	564	1	0.176991150442478	191	3	1.54639175257732
X	78956213	78956213	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	641	0	0	51	626	92.466765140325	188	105	35.8361774744027
X	79754059	79754059	C	A	SNP	ENSG00000230247	ENST00000431935	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-30477	NULL	0.240	-	-	-	no_coding_region:pseudogene	RP11-325E14.1	Clone_based_vega_gene	ENSG00000230247	tier4	830	0	0	353	594	62.7243928194298	358	2	0.555555555555556
X	82883808	82883808	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	613	0	0	55	549	90.7438016528926	184	85	31.5985130111524
X	82976895	82976895	T	A	SNP	TERF1P4	ENST00000399580	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*26938	NULL	0.129	-	-	-	no_coding_region:pseudogene	TERF1P4	HGNC	ENSG00000215102	tier4	593	0	0	589	44	6.95102685624013	266	2	0.746268656716418
X	83055550	83055550	A	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1368	2	0.145985401459854	90	1275	93.2699341623994	215	174	44.7300771208226
X	86087471	86087471	A	T	SNP	DACH2	ENST00000373125	human	ensembl	70_37	+1	known	3_prime_untranslated_region	c.*313	NULL	0.998	-	-	-	no_errors	DACH2	HGNC	ENSG00000126733	tier3	1381	0	0	89	1601	94.6777054997043	309	185	37.4493927125506
X	86681428	86681428	G	T	SNP	ENSG00000230478	ENST00000445880	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-735	NULL	0.994	-	-	-	no_coding_region:pseudogene	RP1-52D1.1	Clone_based_vega_gene	ENSG00000230478	tier2	420	0	0	486	3	0.613496932515337	182	0	0
X	86985860	86985860	A	G	SNP	RPSAP9	ENST00000339991	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-26553	NULL	0.000	-	-	-	no_coding_region:pseudogene	RPSAP9	HGNC	ENSG00000237506	tier3	525	1	0.190114068441065	41	509	92.5454545454545	157	94	37.4501992031873
X	91036803	91036803	C	G	SNP	PCDH11X	ENST00000395337	human	ensembl	70_37	+1	known	intronic	c.1+2120	e0+2120	0.082	-	-	-	no_errors	PCDH11X	HGNC	ENSG00000102290	tier2	858	0	0	746	139	15.7062146892655	360	0	0
X	91480268	91480268	T	A	SNP	PCDH11X	ENST00000373094	human	ensembl	70_37	+1	known	intronic	c.3114+23814	e3+23814	0.088	-	-	-	no_errors	PCDH11X	HGNC	ENSG00000102290	tier3	588	0	0	244	403	62.2874806800618	239	0	0
X	91809948	91809948	C	T	SNP	PCDH11X	ENST00000373094	human	ensembl	70_37	+1	known	intronic	c.3368-63315	e7-63315	0.000	-	-	-	no_errors	PCDH11X	HGNC	ENSG00000102290	tier4	767	0	0	288	441	60.4938271604938	307	0	0
X	93054611	93054611	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	988	0	0	841	255	23.224043715847	463	0	0
X	93777813	93777813	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	579	1	0.172413793103448	219	423	65.8878504672897	257	7	2.65151515151515
X	96191774	96191774	C	A	SNP	DIAPH2	ENST00000324765	human	ensembl	70_37	+1	known	intronic	c.1090-458	e11-458	0.000	-	-	-	no_errors	DIAPH2	HGNC	ENSG00000147202	tier2	488	0	0	531	4	0.746268656716418	167	5	2.90697674418605
X	96826645	96826645	T	G	SNP	DIAPH2	ENST00000324765	human	ensembl	70_37	+1	known	intronic	c.3242-27607	e27-27607	0.004	-	-	-	no_errors	DIAPH2	HGNC	ENSG00000147202	tier3	577	0	0	769	3	0.38860103626943	183	2	1.05820105820106
X	98392119	98392119	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	458	1	0.217391304347826	32	426	92.8104575163399	124	82	39.8058252427184
X	99585722	99585722	T	G	SNP	PCDH19	ENST00000373034	human	ensembl	70_37	-1	known	intronic	c.2848+11179	e5+11179	0.000	-	-	-	no_errors	PCDH19	HGNC	ENSG00000165194	tier3	669	0	0	807	4	0.492610837438424	284	0	0
X	99933645	99933645	A	T	SNP	SYTL4	ENST00000491602	human	ensembl	70_37	-1	known	rna	NULL	NULL	0.000	-	-	-	no_errors	SYTL4	HGNC	ENSG00000102362	tier1	1016	0	0	78	1164	93.6444086886565	276	136	33.0097087378641
X	103948401	103948401	A	C	SNP	IL1RAPL2	ENST00000344799	human	ensembl	70_37	+1	known	intronic	c.82+44725	e1+44725	0.001	-	-	-	no_errors	IL1RAPL2	HGNC	ENSG00000189108	tier4	668	0	0	52	733	93.375796178344	164	133	44.7811447811448
X	104289257	104289257	A	T	SNP	IL1RAPL2	ENST00000344799	human	ensembl	70_37	+1	known	intronic	c.83-150900	e2-150900	0.001	-	-	-	no_errors	IL1RAPL2	HGNC	ENSG00000189108	tier4	807	0	0	939	1	0.106382978723404	304	34	10
X	105939819	105939819	T	C	SNP	RNF128	ENST00000324342	human	ensembl	70_37	+1	known	intronic	c.406+2181	e1+2181	0.000	-	-	-	no_errors	RNF128	HGNC	ENSG00000133135	tier3	945	0	0	1083	34	3.04386750223814	273	123	31.0606060606061
X	108235237	108235237	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	336	0	0	392	3	0.759493670886076	132	1	0.75187969924812
X	108515532	108515532	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	504	0	0	556	16	2.78745644599303	195	0	0
X	110991469	110991469	G	T	SNP	ALG13	ENST00000251943	human	ensembl	70_37	+1	known	intronic	c.2384-4549	e22-4549	0.048	-	-	-	no_errors	ALG13	HGNC	ENSG00000101901	tier4	195	0	0	229	3	1.29310344827586	83	1	1.19047619047619
X	112148641	112148641	A	T	SNP	ENSG00000252930	ENST00000517121	human	ensembl	70_37	+1	novel	5_prime_flanking_region	c.-13719	NULL	0.001	-	-	-	no_errors	U6	RFAM	ENSG00000252930	tier4	802	1	0.12453300124533	279	611	68.5746352413019	349	0	0
X	115239824	115239824	C	A	SNP	API5P1	ENST00000424316	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-141	NULL	0.137	-	-	-	no_coding_region:pseudogene	API5P1	HGNC	ENSG00000234558	tier4	648	0	0	698	31	4.24657534246575	152	91	37.4485596707819
X	115601008	115601008	T	C	SNP	CXorf61	ENST00000371894	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-6991	NULL	0.000	-	-	-	no_errors	CXorf61	HGNC	ENSG00000204019	tier4	839	0	0	54	821	93.8285714285714	156	64	29.0909090909091
X	122141733	122141733	C	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	997	0	0	838	194	18.7802516940949	385	4	1.02827763496144
X	125227866	125227866	G	A	SNP	ENSG00000237208	ENST00000438994	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-15879	NULL	0.015	-	-	-	no_errors	RP11-13E5.2	Clone_based_vega_gene	ENSG00000237208	tier4	1001	1	0.0997008973080758	57	897	94.0251572327044	223	117	34.4117647058824
X	126293916	126293916	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier3	967	0	0	79	917	92.0682730923695	235	131	35.5978260869565
X	129876082	129876082	C	G	SNP	ENOX2	ENST00000338144	human	ensembl	70_37	-1	known	intronic	c.1-32777	e1-32777	0.008	-	-	-	no_errors	ENOX2	HGNC	ENSG00000165675	tier4	706	0	0	46	660	93.4844192634561	173	86	33.2046332046332
X	130370937	130370937	G	A	SNP	IGSF1	ENST00000370903	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36833	NULL	0.000	-	-	-	no_errors	IGSF1	HGNC	ENSG00000147255	tier3	559	0	0	39	561	93.5	146	81	35.6828193832599
X	131485842	131485842	T	G	SNP	ENSG00000232160	ENST00000421483	human	ensembl	70_37	+1	known	intronic	c.NULL	NULL	0.003	-	-	-	no_errors	RP5-842K24.2	Clone_based_vega_gene	ENSG00000232160	tier4	555	0	0	32	550	94.5017182130584	137	88	39.1111111111111
X	132349052	132349052	A	C	SNP	TFDP3	ENST00000310125	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*2018	NULL	0.041	-	-	-	no_errors	TFDP3	HGNC	ENSG00000183434	tier3	517	0	0	634	1	0.15748031496063	178	5	2.73224043715847
X	144618404	144618404	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	1043	5	0.476644423260248	86	1173	93.1691818903892	140	75	34.8837209302326
X	150211398	150211398	A	G	SNP	ENSG00000212595	ENST00000391293	human	ensembl	70_37	-1	novel	5_prime_flanking_region	c.-16520	NULL	0.016	-	-	-	no_errors	5S_rRNA	RFAM	ENSG00000212595	tier4	522	0	0	50	557	91.7627677100494	157	73	31.7391304347826
X	151118493	151118493	T	G	SNP	LOC100507199	ENST00000411474	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-38566	NULL	0.019	-	-	-	no_errors	RP11-366F6.2	Clone_based_vega_gene	ENSG00000229967	tier4	810	0	0	1031	2	0.193610842207164	320	0	0
Y	6434941	6434941	A	T	SNP	TSPY17P	ENST00000450329	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*45971	NULL	0.008	-	-	-	no_coding_region:pseudogene	TSPY17P	HGNC	ENSG00000232620	tier4	260	0	0	377	4	1.04166666666667	158	4	2.4390243902439
Y	9919157	9919157	G	C	SNP	TSPY5P	ENST00000456541	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-14162	NULL	0.001	-	-	-	no_errors	TSPY5P	HGNC	ENSG00000225685	tier4	129	0	0	170	6	3.38983050847458	38	0	0
Y	9919159	9919159	A	T	SNP	TSPY5P	ENST00000456541	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-14164	NULL	0.001	-	-	-	no_errors	TSPY5P	HGNC	ENSG00000225685	tier4	138	0	0	168	8	4.54545454545455	39	0	0
Y	9919186	9919186	C	T	SNP	TSPY5P	ENST00000456541	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-14191	NULL	0.005	-	-	-	no_errors	TSPY5P	HGNC	ENSG00000225685	tier4	119	0	0	165	4	2.35294117647059	41	0	0
Y	9924158	9924158	C	A	SNP	TSPY5P	ENST00000456541	human	ensembl	70_37	-1	putative	5_prime_flanking_region	c.-19163	NULL	0.005	-	-	-	no_errors	TSPY5P	HGNC	ENSG00000225685	tier4	111	0	0	159	2	1.24223602484472	36	0	0
Y	10043959	10043959	A	T	SNP	ENSG00000226975	ENST00000413610	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-36036	NULL	0.037	-	-	-	no_coding_region:pseudogene	AC006987.6	Clone_based_vega_gene	ENSG00000226975	tier4	300	0	0	459	7	1.4957264957265	125	2	1.5748031496063
Y	13279151	13279151	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	2173	0	0	2837	2	0.0703482237073514	1146	0	0
Y	13458675	13458675	C	G	SNP	ENSG00000259029	ENST00000553347	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18558	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-886I11.3	Clone_based_vega_gene	ENSG00000259029	tier4	122	0	0	158	4	2.46913580246914	78	6	6.89655172413793
Y	13468369	13468369	A	G	SNP	ENSG00000259029	ENST00000553347	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8864	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-886I11.3	Clone_based_vega_gene	ENSG00000259029	tier4	122	0	0	182	2	1.08108108108108	75	0	0
Y	13468376	13468376	A	G	SNP	ENSG00000259029	ENST00000553347	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-8857	NULL	0.000	-	-	-	no_coding_region:pseudogene	RP11-886I11.3	Clone_based_vega_gene	ENSG00000259029	tier4	113	0	0	144	4	2.7027027027027	59	0	0
Y	13680776	13680776	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	177	0	0	289	1	0.344827586206897	212	6	2.71493212669683
Y	13693361	13693361	A	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	378	0	0	782	4	0.508259212198221	322	2	0.617283950617284
Y	13709295	13709295	G	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	326	0	0	495	3	0.598802395209581	176	3	1.67597765363128
Y	13838790	13838790	G	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	136	0	0	221	2	0.892857142857143	95	0	0
Y	13838835	13838835	C	G	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	86	0	0	140	2	1.40845070422535	38	2	5
Y	13842940	13842940	C	T	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	477	0	0	832	4	0.478468899521531	330	0	0
Y	13864930	13864930	G	A	SNP	RCC2P1	ENST00000452257	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36828	NULL	0.000	-	-	-	no_coding_region:pseudogene	RCC2P1	HGNC	ENSG00000234385	tier4	70	0	0	142	3	2.05479452054795	48	2	3.84615384615385
Y	13864951	13864951	G	T	SNP	RCC2P1	ENST00000452257	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36807	NULL	0.000	-	-	-	no_coding_region:pseudogene	RCC2P1	HGNC	ENSG00000234385	tier4	65	0	0	108	2	1.81818181818182	32	0	0
Y	13864958	13864958	A	G	SNP	RCC2P1	ENST00000452257	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36800	NULL	0.000	-	-	-	no_coding_region:pseudogene	RCC2P1	HGNC	ENSG00000234385	tier4	57	0	0	102	2	1.92307692307692	26	0	0
Y	13864961	13864961	G	T	SNP	RCC2P1	ENST00000452257	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*36797	NULL	0.000	-	-	-	no_coding_region:pseudogene	RCC2P1	HGNC	ENSG00000234385	tier4	54	0	0	100	2	1.96078431372549	19	0	0
Y	13868256	13868256	G	A	SNP	RCC2P1	ENST00000452257	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*33502	NULL	0.000	-	-	-	no_coding_region:pseudogene	RCC2P1	HGNC	ENSG00000234385	tier4	94	0	0	126	3	2.32558139534884	61	0	0
Y	13868564	13868564	T	C	SNP	RCC2P1	ENST00000452257	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*33194	NULL	0.000	-	-	-	no_coding_region:pseudogene	RCC2P1	HGNC	ENSG00000234385	tier4	145	0	0	250	2	0.790513833992095	149	0	0
Y	22121792	22121792	T	G	SNP	RCC2P2	ENST00000422174	human	ensembl	70_37	-1	known	3_prime_flanking_region	c.*26669	NULL	0.359	-	-	-	no_coding_region:pseudogene	RCC2P2	HGNC	ENSG00000237997	tier4	291	0	0	426	3	0.699300699300699	166	1	0.598802395209581
Y	23885883	23885883	C	A	SNP	USP9YP8	ENST00000441913	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-42879	NULL	0.000	-	-	-	no_coding_region:pseudogene	USP9YP8	HGNC	ENSG00000229416	tier4	391	0	0	583	1	0.171232876712329	194	5	2.51256281407035
Y	28805580	28805580	A	G	SNP	FAM58CP	ENST00000435741	human	ensembl	70_37	-1	known	5_prime_flanking_region	c.-32274	NULL	0.000	-	-	-	no_coding_region:pseudogene	FAM58CP	HGNC	ENSG00000231514	tier4	437	0	0	631	1	0.158227848101266	252	4	1.5625
Y	58905093	58905093	T	A	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	119	0	0	187	4	2.09424083769634	64	0	0
Y	58906667	58906667	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	75	0	0	121	2	1.6260162601626	37	0	0
Y	58916090	58916090	T	C	SNP	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	tier4	850	0	0	1238	2	0.16116035455278	751	0	0
Y	58983300	58983300	T	C	SNP	CTBP2P1	ENST00000431853	human	ensembl	70_37	+1	known	5_prime_flanking_region	c.-18091	NULL	0.000	-	-	-	no_coding_region:pseudogene	CTBP2P1	HGNC	ENSG00000235857	tier4	743	0	0	940	5	0.528541226215645	483	2	0.412371134020619
Y	59004849	59004849	C	A	SNP	CTBP2P1	ENST00000431853	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*3214	NULL	0.015	-	-	-	no_coding_region:pseudogene	CTBP2P1	HGNC	ENSG00000235857	tier4	2853	1	0.0350140056022409	3630	2	0.0550509221029452	2142	12	0.557103064066852
Y	59024227	59024227	A	G	SNP	CTBP2P1	ENST00000431853	human	ensembl	70_37	+1	known	3_prime_flanking_region	c.*22592	NULL	0.944	-	-	-	no_coding_region:pseudogene	CTBP2P1	HGNC	ENSG00000235857	tier4	577	0	0	689	1	0.144927536231884	437	5	1.13122171945701