Joint Open Genome and Omics Platform (JoGo)

Search by Genic region

geneid	54065
ensemblid	ENSG00000205670.12
hgncid	1293
symbol	SMIM11
name	small integral membrane protein 11
refseq_nuc	NM_058182.5
refseq_prot	NP_478062.1
ensembl_nuc	ENST00000399292.8
ensembl_prot	ENSP00000382231.4
mane_status	MANE Select
chr	chr21
start	34375507
end	34389151
strand	+
ver	v1.2
region	chr21:34375507-34389151
region5000	chr21:34370507-34394151
regionname0	SMIM11_chr21_34375507_34389151
regionname5000	SMIM11_chr21_34370507_34394151

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/1	58	126	34	35	30	6	20	10	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0002	0/0	58	3	2	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151

chapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	0/1	177	125	33	35	30	6	20	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
c0002	0/0	177	3	2	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
c0003	0/0	177	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151

thapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
t0001	0/1	664	109	30	30	24	5	19	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0002	0/0	663	4	1	2	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0003	0/0	665	3	0	1	0	1	1	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0004	0/0	664	3	2	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0005	0/0	664	2	0	1	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0006	0/0	664	2	1	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0007	0/0	663	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0008	0/0	664	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0009	0/0	664	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0010	0/0	662	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0011	0/0	664	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
t0012	0/0	664	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151

ghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
g0001	0/0	41	8	11	15	1	6	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0002	0/0	10	6	0	0	0	4	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0003	0/0	6	0	4	0	1	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0004	0/0	4	1	2	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0005	0/0	4	2	1	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0006	0/0	4	4	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0007	0/0	2	0	0	2	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0008	0/1	2	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0009	0/0	2	0	1	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0010	0/0	2	2	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0011	0/0	2	1	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0012	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0013	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0014	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0015	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0016	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0017	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0018	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0019	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0020	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0021	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0022	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0023	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0024	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0025	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0026	0/0	1	0	0	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0027	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0028	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0029	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0030	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0031	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0032	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0033	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0034	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0035	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0036	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0037	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0038	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0039	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0040	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0041	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0042	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0043	0/0	1	0	0	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0044	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0045	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0046	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0047	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0048	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0049	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0050	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0051	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0052	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0053	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0054	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0055	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0056	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0057	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0058	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0059	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0060	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
g0061	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151

achapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/1	177	125	33	35	30	6	20	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0003	0/0	177	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0002c0002	0/0	177	3	2	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/1	840	109	30	30	24	5	19	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0002	0/0	839	4	1	2	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0003	0/0	841	3	0	1	0	1	1	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0004	0/0	840	2	1	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0005	0/0	840	2	0	1	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0007	0/0	839	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0009	0/0	840	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0010	0/0	838	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0011	0/0	840	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0001t0012	0/0	840	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0001c0003t0008	0/0	840	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0002c0002t0004	0/0	840	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151
a0002c0002t0006	0/0	840	2	1	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	copy fasta	chr21	34370507	34394151

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	40	8	11	15	0	6	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0002	0/0	10	6	0	0	0	4	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0003	0/0	6	0	4	0	1	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0004	0/0	3	0	2	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0005	0/0	4	2	1	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0006	0/0	4	4	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0007	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0008	0/1	2	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0009	0/0	2	0	1	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0010	0/0	2	2	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0011	0/0	2	1	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0013	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0015	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0016	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0017	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0019	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0021	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0023	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0024	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0025	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0026	0/0	1	0	0	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0027	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0029	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0030	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0031	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0032	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0033	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0035	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0036	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0037	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0038	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0039	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0040	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0041	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0043	0/0	1	0	0	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0044	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0045	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0047	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0048	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0050	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0051	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0052	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0060	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0001g0061	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0002g0004	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0002g0018	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0002g0020	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0002g0049	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0003g0001	0/0	1	0	0	0	1	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0003g0012	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0003g0046	0/0	1	0	0	0	0	1	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0004g0056	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0004g0057	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0005g0028	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0005g0054	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0007g0022	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0009g0007	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0010g0034	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0011g0014	0/0	1	0	0	1	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0001t0012g0055	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0001c0003t0008g0042	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0002c0002t0004g0059	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0002c0002t0006g0053	0/0	1	0	1	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
a0002c0002t0006g0058	0/0	1	1	0	0	0	0	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00438	hp1	a0001	c0001	t0001	g0001	EAS	CHS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00438	hp2	a0001	c0001	t0001	g0001	EAS	CHS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00544	hp1	a0001	c0001	t0001	g0001	EAS	CHS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00544	hp2	a0001	c0001	t0001	g0038	EAS	CHS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00609	hp1	a0001	c0001	t0001	g0001	EAS	CHS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00609	hp2	a0001	c0001	t0001	g0001	EAS	CHS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00735	hp1	a0001	c0001	t0001	g0011	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG00735	hp2	a0001	c0001	t0001	g0001	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01074	hp1	a0002	c0002	t0006	g0053	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01074	hp2	a0001	c0001	t0001	g0001	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01081	hp1	a0001	c0001	t0001	g0001	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01081	hp2	a0001	c0001	t0001	g0003	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01109	hp1	a0001	c0001	t0001	g0005	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01109	hp2	a0001	c0001	t0001	g0003	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01175	hp1	a0001	c0001	t0001	g0021	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01175	hp2	a0001	c0001	t0001	g0009	AMR	PUR	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01255	hp1	a0001	c0001	t0001	g0001	AMR	CLM	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01255	hp2	a0001	c0001	t0001	g0003	AMR	CLM	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01261	hp1	a0001	c0001	t0001	g0001	AMR	CLM	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01261	hp2	a0001	c0001	t0001	g0001	AMR	CLM	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01496	hp1	a0001	c0001	t0001	g0001	AMR	CLM	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01496	hp2	a0001	c0001	t0002	g0018	AMR	CLM	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01517	hp1	a0001	c0001	t0001	g0003	EUR	IBS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01517	hp2	a0001	c0001	t0001	g0005	EUR	IBS	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01928	hp1	a0001	c0001	t0001	g0032	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01928	hp2	a0001	c0001	t0001	g0003	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01934	hp1	a0001	c0001	t0002	g0049	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01934	hp2	a0001	c0001	t0001	g0004	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01952	hp1	a0001	c0001	t0004	g0057	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01952	hp2	a0001	c0001	t0001	g0051	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01975	hp1	a0001	c0001	t0001	g0004	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01975	hp2	a0001	c0001	t0005	g0054	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01978	hp1	a0001	c0001	t0001	g0001	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01978	hp2	a0001	c0001	t0001	g0029	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01993	hp1	a0001	c0001	t0001	g0016	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG01993	hp2	a0001	c0001	t0001	g0050	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02004	hp1	a0001	c0001	t0001	g0001	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02004	hp2	a0001	c0001	t0001	g0039	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02027	hp1	a0001	c0001	t0001	g0023	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02027	hp2	a0001	c0001	t0009	g0007	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02071	hp1	a0001	c0001	t0001	g0001	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02071	hp2	a0001	c0001	t0001	g0017	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02080	hp1	a0001	c0001	t0010	g0034	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02080	hp2	a0001	c0001	t0001	g0001	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02155	hp1	a0001	c0001	t0001	g0045	EAS	CDX	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02155	hp2	a0001	c0001	t0007	g0022	EAS	CDX	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02258	hp1	a0001	c0001	t0001	g0011	AFR	ACB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02258	hp2	a0001	c0001	t0001	g0031	AFR	ACB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02273	hp1	a0001	c0001	t0001	g0048	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02273	hp2	a0001	c0001	t0001	g0013	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02293	hp1	a0001	c0001	t0001	g0047	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02293	hp2	a0001	c0001	t0001	g0001	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02300	hp1	a0001	c0001	t0001	g0001	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02300	hp2	a0001	c0001	t0003	g0012	AMR	PEL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02523	hp1	a0001	c0001	t0001	g0001	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02523	hp2	a0001	c0001	t0001	g0001	EAS	KHV	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02622	hp1	a0001	c0001	t0001	g0005	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02622	hp2	a0001	c0001	t0001	g0006	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02630	hp1	a0001	c0001	t0001	g0005	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02630	hp2	a0001	c0001	t0001	g0006	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02647	hp1	a0001	c0001	t0001	g0001	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02647	hp2	a0001	c0001	t0001	g0001	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02698	hp1	a0001	c0001	t0001	g0003	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02698	hp2	a0001	c0001	t0001	g0001	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02735	hp1	a0001	c0001	t0001	g0002	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02735	hp2	a0001	c0001	t0001	g0033	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02738	hp1	a0001	c0001	t0001	g0001	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02738	hp2	a0001	c0001	t0001	g0040	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02809	hp1	a0001	c0001	t0001	g0006	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02809	hp2	a0001	c0001	t0001	g0002	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02922	hp1	a0001	c0001	t0001	g0024	AFR	ESN	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02922	hp2	a0001	c0001	t0001	g0015	AFR	ESN	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03041	hp1	a0001	c0001	t0001	g0001	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03041	hp2	a0002	c0002	t0004	g0059	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03139	hp1	a0001	c0001	t0001	g0002	AFR	ESN	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03139	hp2	a0001	c0003	t0008	g0042	AFR	ESN	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03209	hp1	a0001	c0001	t0002	g0004	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03209	hp2	a0001	c0001	t0001	g0041	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03225	hp1	a0001	c0001	t0001	g0010	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03225	hp2	a0001	c0001	t0001	g0010	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03239	hp1	a0001	c0001	t0001	g0002	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03239	hp2	a0001	c0001	t0001	g0002	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03453	hp1	a0001	c0001	t0001	g0002	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03453	hp2	a0001	c0001	t0001	g0002	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03490	hp1	a0001	c0001	t0001	g0002	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03490	hp2	a0001	c0001	t0001	g0030	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03540	hp1	a0001	c0001	t0001	g0001	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03540	hp2	a0002	c0002	t0006	g0058	AFR	GWD	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03579	hp1	a0001	c0001	t0001	g0002	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03579	hp2	a0001	c0001	t0001	g0001	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03669	hp1	a0001	c0001	t0001	g0035	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03669	hp2	a0001	c0001	t0001	g0061	SAS	PJL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03831	hp1	a0001	c0001	t0003	g0046	SAS	BEB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03831	hp2	a0001	c0001	t0001	g0027	SAS	BEB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG04115	hp1	a0001	c0001	t0001	g0001	SAS	STU	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG04115	hp2	a0001	c0001	t0001	g0001	SAS	STU	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG04204	hp1	a0001	c0001	t0001	g0001	SAS	STU	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG04204	hp2	a0001	c0001	t0001	g0044	SAS	STU	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG04228	hp1	a0001	c0001	t0001	g0001	SAS	STU	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG04228	hp2	a0001	c0001	t0001	g0036	SAS	STU	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18522	hp1	a0001	c0001	t0001	g0025	AFR	YRI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18522	hp2	a0001	c0001	t0001	g0060	AFR	YRI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18612	hp1	a0001	c0001	t0002	g0020	EAS	CHB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18612	hp2	a0001	c0001	t0001	g0001	EAS	CHB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18747	hp1	a0001	c0001	t0001	g0007	EAS	CHB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18747	hp2	a0001	c0001	t0001	g0001	EAS	CHB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18906	hp1	a0001	c0001	t0001	g0052	AFR	YRI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18906	hp2	a0001	c0001	t0001	g0001	AFR	YRI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18950	hp1	a0001	c0001	t0001	g0001	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18950	hp2	a0001	c0001	t0001	g0019	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18983	hp1	a0001	c0001	t0001	g0001	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18983	hp2	a0001	c0001	t0001	g0001	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA19011	hp1	a0001	c0001	t0001	g0037	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA19011	hp2	a0001	c0001	t0011	g0014	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA19043	hp1	a0001	c0001	t0004	g0056	AFR	LWK	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA19043	hp2	a0001	c0001	t0001	g0002	AFR	LWK	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA19056	hp1	a0001	c0001	t0001	g0004	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA19056	hp2	a0001	c0001	t0005	g0028	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA20752	hp1	a0001	c0001	t0001	g0026	EUR	TSI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA20752	hp2	a0001	c0001	t0001	g0009	EUR	TSI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA20805	hp1	a0001	c0001	t0003	g0001	EUR	TSI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA20805	hp2	a0001	c0001	t0001	g0043	EUR	TSI	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02559	hp1	a0001	c0001	t0001	g0001	AFR	ACB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG02559	hp2	a0001	c0001	t0001	g0001	AFR	ACB	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03471	hp1	a0001	c0001	t0001	g0006	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
HG03471	hp2	a0001	c0001	t0012	g0055	AFR	MSL	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18955	hp1	a0001	c0001	t0001	g0001	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
NA18955	hp2	a0001	c0001	t0001	g0008	EAS	JPT	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151
homoSapiens_chm13v2	hp1	a0001	c0001	t0001	g0008	REF	REF	SMIM11_chr21_34370507_34394151	SMIM11	chr21	34370507	34394151

chr:pos	ref	alt	# # of ahapid:amino-acid(protein) level	ahapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos
chr21:34385617	A A	G G	1	a0002 a0002	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	missense_variant	MODERATE	c.152A>G c.152A>G	p.Lys51Arg p.Lys51Arg	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/4	290/840	152/177	51/58			chr21	34385617

chr:pos	ref	alt	# # of chapid	chapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos
chr21:34385489	C C	T T	1	a0002c0002 a0002c0002	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	synonymous_variant	LOW	c.24C>T c.24C>T	p.His8His p.His8His	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/4	162/840	24/177	8/58			chr21	34385489
chr21:34385564	T T	C C	1	a0001c0003 a0001c0003	1	HG03139.hp2 HG03139.hp2	synonymous_variant	LOW	c.99T>C c.99T>C	p.Tyr33Tyr p.Tyr33Tyr	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/4	237/840	99/177	33/58			chr21	34385564

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	pos
chr21:34388775	G G	T T	4	a0001c0001t0004 a0001c0001t0012 a0002c0002t0004 others(1): Show a0001c0001t0004 a0001c0001t0012 a0002c0002t0004 a0002c0002t0006	6	HG01074.hp1 HG01952.hp1 HG03041.hp2 others(3): Show HG01074.hp1 HG01952.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1	3_prime_UTR_variant	MODIFIER	c.149G>T c.149G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3133		chr21	34388775
chr21:34388885	TG TG	T T	1	a0001c0001t0005 a0001c0001t0005	2	HG01975.hp2 NA19056.hp2 HG01975.hp2 NA19056.hp2	3_prime_UTR_variant	MODIFIER	c.261delG c.261delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3245	INFO_REALIGN_3_PRIME	chr21	34388885
chr21:34388947	A A	C C	1	a0001c0001t0011 a0001c0001t0011	1	NA19011.hp2 NA19011.hp2	3_prime_UTR_variant	MODIFIER	c.321A>C c.321A>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3305		chr21	34388947
chr21:34389051	G G	A A	1	a0001c0001t0012 a0001c0001t0012	1	HG03471.hp2 HG03471.hp2	3_prime_UTR_variant	MODIFIER	c.425G>A c.425G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3409		chr21	34389051
chr21:34389066	C C	CA CA	3	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	6	HG01975.hp2 HG02155.hp2 HG02300.hp2 others(3): Show HG01975.hp2 HG02155.hp2 HG02300.hp2 HG03831.hp1 NA19056.hp2 NA20805.hp1	3_prime_UTR_variant	MODIFIER	c.451dupA c.451dupA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3436	INFO_REALIGN_3_PRIME	chr21	34389066
chr21:34389088	A A	T T	1	a0001c0001t0011 a0001c0001t0011	1	NA19011.hp2 NA19011.hp2	3_prime_UTR_variant	MODIFIER	c.462A>T c.462A>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3446		chr21	34389088
chr21:34389092	TA TA	T T	3	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010	6	HG01496.hp2 HG01934.hp1 HG02080.hp1 others(3): Show HG01496.hp2 HG01934.hp1 HG02080.hp1 HG02155.hp2 HG03209.hp1 NA18612.hp1	3_prime_UTR_variant	MODIFIER	c.474delA c.474delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3458	INFO_REALIGN_3_PRIME	chr21	34389092
chr21:34389101	T T	A A	2	a0001c0003t0008 a0002c0002t0006 a0001c0003t0008 a0002c0002t0006	3	HG01074.hp1 HG03139.hp2 HG03540.hp2 HG01074.hp1 HG03139.hp2 HG03540.hp2	3_prime_UTR_variant	MODIFIER	c.475T>A c.475T>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3459		chr21	34389101
chr21:34389126	TA TA	T T	2	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	2	HG02080.hp1 HG02155.hp2 HG02080.hp1 HG02155.hp2	3_prime_UTR_variant	MODIFIER	c.504delA c.504delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3488	INFO_REALIGN_3_PRIME	chr21	34389126
chr21:34389135	A A	T T	1	a0001c0001t0009 a0001c0001t0009	1	HG02027.hp2 HG02027.hp2	3_prime_UTR_variant	MODIFIER	c.509A>T c.509A>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	4/4	3493		chr21	34389135

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	status	chr	pos
chr21:34375655	C C	T T	1	a0001c0001t0001g0061 a0001c0001t0001g0061	1	HG03669.hp2 HG03669.hp2	intron_variant	MODIFIER	c.-78+88C>T c.-78+88C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34375655
chr21:34375786	G G	C C	2	a0001c0001t0001g0007 a0001c0001t0009g0007 a0001c0001t0001g0007 a0001c0001t0009g0007	2	HG02027.hp2 NA18747.hp1 HG02027.hp2 NA18747.hp1	intron_variant	MODIFIER	c.-78+219G>C c.-78+219G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34375786
chr21:34375964	G G	C C	1	a0001c0001t0003g0012 a0001c0001t0003g0012	1	HG02300.hp2 HG02300.hp2	intron_variant	MODIFIER	c.-78+397G>C c.-78+397G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34375964
chr21:34376018	T T	C C	1	a0001c0001t0001g0013 a0001c0001t0001g0013	1	HG02273.hp2 HG02273.hp2	intron_variant	MODIFIER	c.-78+451T>C c.-78+451T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34376018
chr21:34376019	A A	G G	10	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	14	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(11): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-78+452A>G c.-78+452A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34376019
chr21:34376362	C C	G G	1	a0001c0001t0001g0052 a0001c0001t0001g0052	1	NA18906.hp1 NA18906.hp1	intron_variant	MODIFIER	c.-78+795C>G c.-78+795C>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34376362
chr21:34376397	C C	T T	6	a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0049	11	HG01081.hp2 HG01109.hp2 HG01255.hp2 others(8): Show HG01081.hp2 HG01109.hp2 HG01255.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp1	intron_variant	MODIFIER	c.-78+830C>T c.-78+830C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34376397
chr21:34376621	C C	A A	1	a0002c0002t0006g0053 a0002c0002t0006g0053	1	HG01074.hp1 HG01074.hp1	intron_variant	MODIFIER	c.-78+1054C>A c.-78+1054C>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34376621
chr21:34376958	T T	G G	1	a0001c0001t0011g0014 a0001c0001t0011g0014	1	NA19011.hp2 NA19011.hp2	intron_variant	MODIFIER	c.-78+1391T>G c.-78+1391T>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34376958
chr21:34377309	G G	T T	2	a0001c0001t0001g0061 a0001c0001t0003g0046 a0001c0001t0001g0061 a0001c0001t0003g0046	2	HG03669.hp2 HG03831.hp1 HG03669.hp2 HG03831.hp1	intron_variant	MODIFIER	c.-78+1742G>T c.-78+1742G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34377309
chr21:34377444	A A	G G	1	a0001c0001t0001g0045 a0001c0001t0001g0045	1	HG02155.hp1 HG02155.hp1	intron_variant	MODIFIER	c.-78+1877A>G c.-78+1877A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34377444
chr21:34377447	G G	T T	10	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	14	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(11): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-78+1880G>T c.-78+1880G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34377447
chr21:34377809	A A	G G	1	a0001c0001t0001g0044 a0001c0001t0001g0044	1	HG04204.hp2 HG04204.hp2	intron_variant	MODIFIER	c.-77-1619A>G c.-77-1619A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34377809
chr21:34378364	G G	C C	10	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	14	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(11): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-77-1064G>C c.-77-1064G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378364
chr21:34378526	C C	T T	1	a0001c0001t0001g0043 a0001c0001t0001g0043	1	NA20805.hp2 NA20805.hp2	intron_variant	MODIFIER	c.-77-902C>T c.-77-902C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378526
chr21:34378553	T T	G G	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.-77-875T>G c.-77-875T>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378553
chr21:34378671	TG TG	T T	10	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	14	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(11): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-77-752delG c.-77-752delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr21	34378671
chr21:34378676	G G	T T	54	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0005g0028 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0003t0008g0042	115	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(112): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.-77-752G>T c.-77-752G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378676
chr21:34378714	T T	C C	10	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	14	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(11): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-77-714T>C c.-77-714T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378714
chr21:34378880	C C	T T	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.-77-548C>T c.-77-548C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378880
chr21:34378942	C C	T T	4	a0001c0001t0001g0060 a0002c0002t0004g0059 a0002c0002t0006g0053 others(1): Show a0001c0001t0001g0060 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	4	HG01074.hp1 HG03041.hp2 HG03540.hp2 others(1): Show HG01074.hp1 HG03041.hp2 HG03540.hp2 NA18522.hp2	intron_variant	MODIFIER	c.-77-486C>T c.-77-486C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378942
chr21:34378956	T T	C C	1	a0001c0001t0001g0047 a0001c0001t0001g0047	1	HG02293.hp1 HG02293.hp1	intron_variant	MODIFIER	c.-77-472T>C c.-77-472T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378956
chr21:34378960	A A	G G	3	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055	3	HG01952.hp1 HG03471.hp2 NA19043.hp1 HG01952.hp1 HG03471.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-77-468A>G c.-77-468A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378960
chr21:34378968	A A	G G	7	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0004g0056 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0001c0003t0008g0042	11	HG00735.hp1 HG01952.hp1 HG01975.hp2 others(8): Show HG00735.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-77-460A>G c.-77-460A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34378968
chr21:34379094	G G	C C	5	a0001c0001t0001g0015 a0001c0001t0001g0060 a0002c0002t0004g0059 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0060 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	5	HG01074.hp1 HG02922.hp2 HG03041.hp2 others(2): Show HG01074.hp1 HG02922.hp2 HG03041.hp2 HG03540.hp2 NA18522.hp2	intron_variant	MODIFIER	c.-77-334G>C c.-77-334G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34379094
chr21:34379125	G G	T T	1	a0001c0001t0001g0060 a0001c0001t0001g0060	1	NA18522.hp2 NA18522.hp2	intron_variant	MODIFIER	c.-77-303G>T c.-77-303G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34379125
chr21:34379245	G G	C C	1	a0001c0001t0012g0055 a0001c0001t0012g0055	1	HG03471.hp2 HG03471.hp2	intron_variant	MODIFIER	c.-77-183G>C c.-77-183G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34379245
chr21:34379409	C C	T T	4	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 others(1): Show a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042	4	HG01952.hp1 HG03139.hp2 HG03471.hp2 others(1): Show HG01952.hp1 HG03139.hp2 HG03471.hp2 NA19043.hp1	intron_variant	MODIFIER	c.-77-19C>T c.-77-19C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	1/3		chr21	34379409
chr21:34379630	A A	C C	4	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 others(1): Show a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042	4	HG01952.hp1 HG03139.hp2 HG03471.hp2 others(1): Show HG01952.hp1 HG03139.hp2 HG03471.hp2 NA19043.hp1	intron_variant	MODIFIER	c.12+114A>C c.12+114A>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34379630
chr21:34379854	C C	T T	3	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055	3	HG01952.hp1 HG03471.hp2 NA19043.hp1 HG01952.hp1 HG03471.hp2 NA19043.hp1	intron_variant	MODIFIER	c.12+338C>T c.12+338C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34379854
chr21:34379970	T T	C C	9	a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	9	HG01074.hp1 HG01952.hp1 HG02922.hp2 others(6): Show HG01074.hp1 HG01952.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.12+454T>C c.12+454T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34379970
chr21:34379989	G G	A A	1	a0001c0001t0001g0016 a0001c0001t0001g0016	1	HG01993.hp1 HG01993.hp1	intron_variant	MODIFIER	c.12+473G>A c.12+473G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34379989
chr21:34380213	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.12+697C>T c.12+697C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34380213
chr21:34380852	G G	A A	3	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	intron_variant	MODIFIER	c.12+1336G>A c.12+1336G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34380852
chr21:34380939	TG TG	T T	2	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0041 a0001c0001t0001g0052	2	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	intron_variant	MODIFIER	c.12+1425delG c.12+1425delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3	INFO_REALIGN_3_PRIME	chr21	34380939
chr21:34381036	G G	A A	1	a0001c0001t0001g0017 a0001c0001t0001g0017	1	HG02071.hp2 HG02071.hp2	intron_variant	MODIFIER	c.12+1520G>A c.12+1520G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381036
chr21:34381098	G G	A A	3	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	intron_variant	MODIFIER	c.12+1582G>A c.12+1582G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381098
chr21:34381228	G G	A A	1	a0001c0001t0002g0018 a0001c0001t0002g0018	1	HG01496.hp2 HG01496.hp2	intron_variant	MODIFIER	c.12+1712G>A c.12+1712G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381228
chr21:34381263	C C	T T	1	a0001c0001t0001g0040 a0001c0001t0001g0040	1	HG02738.hp2 HG02738.hp2	intron_variant	MODIFIER	c.12+1747C>T c.12+1747C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381263
chr21:34381323	G G	T T	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.12+1807G>T c.12+1807G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381323
chr21:34381492	C C	T T	1	a0001c0001t0001g0039 a0001c0001t0001g0039	1	HG02004.hp2 HG02004.hp2	intron_variant	MODIFIER	c.12+1976C>T c.12+1976C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381492
chr21:34381504	G G	A A	1	a0002c0002t0006g0053 a0002c0002t0006g0053	1	HG01074.hp1 HG01074.hp1	intron_variant	MODIFIER	c.12+1988G>A c.12+1988G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381504
chr21:34381706	C C	T T	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.12+2190C>T c.12+2190C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381706
chr21:34381902	G G	A A	2	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0041 a0001c0001t0001g0052	2	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	intron_variant	MODIFIER	c.12+2386G>A c.12+2386G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381902
chr21:34381940	G G	T T	1	a0001c0001t0001g0038 a0001c0001t0001g0038	1	HG00544.hp2 HG00544.hp2	intron_variant	MODIFIER	c.12+2424G>T c.12+2424G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381940
chr21:34381943	G G	A A	1	a0001c0001t0001g0060 a0001c0001t0001g0060	1	NA18522.hp2 NA18522.hp2	intron_variant	MODIFIER	c.12+2427G>A c.12+2427G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34381943
chr21:34382039	G G	A A	6	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 others(3): Show a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	6	HG01074.hp1 HG01952.hp1 HG03041.hp2 others(3): Show HG01074.hp1 HG01952.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1	intron_variant	MODIFIER	c.12+2523G>A c.12+2523G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382039
chr21:34382317	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.12+2801C>T c.12+2801C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382317
chr21:34382391	A A	G G	3	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	intron_variant	MODIFIER	c.12+2875A>G c.12+2875A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382391
chr21:34382541	G G	A A	3	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	intron_variant	MODIFIER	c.13-2937G>A c.13-2937G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382541
chr21:34382622	G G	GT GT	64	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	129	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.13-2854dupT c.13-2854dupT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3	INFO_REALIGN_3_PRIME	chr21	34382622
chr21:34382654	G G	A A	1	a0001c0001t0005g0054 a0001c0001t0005g0054	1	HG01975.hp2 HG01975.hp2	intron_variant	MODIFIER	c.13-2824G>A c.13-2824G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382654
chr21:34382933	A A	G G	1	a0001c0001t0001g0037 a0001c0001t0001g0037	1	NA19011.hp1 NA19011.hp1	intron_variant	MODIFIER	c.13-2545A>G c.13-2545A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382933
chr21:34382947	A A	G G	3	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	intron_variant	MODIFIER	c.13-2531A>G c.13-2531A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382947
chr21:34382968	A A	G G	9	a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	9	HG01074.hp1 HG01952.hp1 HG02922.hp2 others(6): Show HG01074.hp1 HG01952.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.13-2510A>G c.13-2510A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34382968
chr21:34384009	A A	AG AG	64	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	129	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.13-1468dupG c.13-1468dupG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3	INFO_REALIGN_3_PRIME	chr21	34384009
chr21:34384057	C C	T T	1	a0001c0001t0001g0036 a0001c0001t0001g0036	1	HG04228.hp2 HG04228.hp2	intron_variant	MODIFIER	c.13-1421C>T c.13-1421C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384057
chr21:34384139	C C	T T	1	a0001c0001t0001g0035 a0001c0001t0001g0035	1	HG03669.hp1 HG03669.hp1	intron_variant	MODIFIER	c.13-1339C>T c.13-1339C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384139
chr21:34384220	C C	T T	1	a0001c0001t0001g0011 a0001c0001t0001g0011	2	HG00735.hp1 HG02258.hp1 HG00735.hp1 HG02258.hp1	intron_variant	MODIFIER	c.13-1258C>T c.13-1258C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384220
chr21:34384277	G G	A A	12	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	16	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(13): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.13-1201G>A c.13-1201G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384277
chr21:34384365	T T	C C	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.13-1113T>C c.13-1113T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384365
chr21:34384366	TC TC	T T	3	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055	3	HG01952.hp1 HG03471.hp2 NA19043.hp1 HG01952.hp1 HG03471.hp2 NA19043.hp1	intron_variant	MODIFIER	c.13-1111delC c.13-1111delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384366
chr21:34384420	T T	C C	9	a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	9	HG01074.hp1 HG01952.hp1 HG02922.hp2 others(6): Show HG01074.hp1 HG01952.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.13-1058T>C c.13-1058T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384420
chr21:34384742	A A	AC AC	2	a0001c0001t0001g0019 a0001c0001t0002g0020 a0001c0001t0001g0019 a0001c0001t0002g0020	2	NA18612.hp1 NA18950.hp2 NA18612.hp1 NA18950.hp2	intron_variant	MODIFIER	c.13-736_13-735insC c.13-736_13-735insC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34384742
chr21:34384742	A A	AT AT	62	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	127	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(124): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.13-734dupT c.13-734dupT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3	INFO_REALIGN_3_PRIME	chr21	34384742
chr21:34385443	A A	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.13-35A>T c.13-35A>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	2/3		chr21	34385443
chr21:34385712	C C	G G	1	a0001c0001t0010g0034 a0001c0001t0010g0034	1	HG02080.hp1 HG02080.hp1	intron_variant	MODIFIER	c.2+68C>G c.2+68C>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34385712
chr21:34385738	C C	T T	3	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0005g0054 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0005g0054	7	HG00735.hp1 HG01975.hp2 HG02258.hp1 others(4): Show HG00735.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03471.hp1	intron_variant	MODIFIER	c.2+94C>T c.2+94C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34385738
chr21:34385853	G G	A A	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG01175.hp1 HG01175.hp1	intron_variant	MODIFIER	c.2+209G>A c.2+209G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34385853
chr21:34385917	G G	A A	1	a0001c0001t0001g0048 a0001c0001t0001g0048	1	HG02273.hp1 HG02273.hp1	intron_variant	MODIFIER	c.2+273G>A c.2+273G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34385917
chr21:34385939	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.2+295C>T c.2+295C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34385939
chr21:34386023	T T	C C	1	a0002c0002t0006g0058 a0002c0002t0006g0058	1	HG03540.hp2 HG03540.hp2	intron_variant	MODIFIER	c.2+379T>C c.2+379T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386023
chr21:34386154	A A	G G	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.2+510A>G c.2+510A>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386154
chr21:34386384	T T	C C	1	a0001c0001t0001g0060 a0001c0001t0001g0060	1	NA18522.hp2 NA18522.hp2	intron_variant	MODIFIER	c.2+740T>C c.2+740T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386384
chr21:34386495	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.2+851C>T c.2+851C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386495
chr21:34386599	T T	TA TA	11	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0002g0004 a0001c0001t0004g0056 a0001c0001t0005g0054 a0001c0001t0007g0022	17	HG00735.hp1 HG01934.hp2 HG01975.hp1 others(14): Show HG00735.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03209.hp1 HG03471.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1	intron_variant	MODIFIER	c.2+967dupA c.2+967dupA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34386599
chr21:34386612	C C	A A	1	a0001c0001t0002g0049 a0001c0001t0002g0049	1	HG01934.hp1 HG01934.hp1	intron_variant	MODIFIER	c.2+968C>A c.2+968C>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386612
chr21:34386612	C C	CA CA	5	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0005g0028	6	HG01952.hp2 HG03831.hp2 NA18950.hp2 others(3): Show HG01952.hp2 HG03831.hp2 NA18950.hp2 NA18955.hp2 NA19056.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.2+976dupA c.2+976dupA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34386612
chr21:34386621	C C	A A	11	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	11	HG01074.hp1 HG01952.hp1 HG02922.hp1 others(8): Show HG01074.hp1 HG01952.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA20752.hp1	intron_variant	MODIFIER	c.2+977C>A c.2+977C>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386621
chr21:34386621	C C	G G	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.2+977C>G c.2+977C>G	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386621
chr21:34386622	C C	A A	1	a0001c0001t0001g0029 a0001c0001t0001g0029	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2+978C>A c.2+978C>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386622
chr21:34386635	C C	A A	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.2+991C>A c.2+991C>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386635
chr21:34386636	A A	C C	1	a0001c0001t0001g0050 a0001c0001t0001g0050	1	HG01993.hp2 HG01993.hp2	intron_variant	MODIFIER	c.2+992A>C c.2+992A>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386636
chr21:34386640	A A	T T	3	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0005g0054 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0005g0054	7	HG00735.hp1 HG01975.hp2 HG02258.hp1 others(4): Show HG00735.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03471.hp1	intron_variant	MODIFIER	c.2+996A>T c.2+996A>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386640
chr21:34386647	T T	C C	3	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0005g0054 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0005g0054	7	HG00735.hp1 HG01975.hp2 HG02258.hp1 others(4): Show HG00735.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03471.hp1	intron_variant	MODIFIER	c.2+1003T>C c.2+1003T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386647
chr21:34386661	C C	T T	7	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 others(4): Show a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	7	HG01074.hp1 HG01952.hp1 HG03041.hp2 others(4): Show HG01074.hp1 HG01952.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1	intron_variant	MODIFIER	c.2+1017C>T c.2+1017C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386661
chr21:34386785	C C	T T	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.2+1141C>T c.2+1141C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386785
chr21:34386804	G G	C C	3	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0030	4	HG01175.hp2 HG03490.hp2 HG03831.hp2 others(1): Show HG01175.hp2 HG03490.hp2 HG03831.hp2 NA20752.hp2	intron_variant	MODIFIER	c.2+1160G>C c.2+1160G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386804
chr21:34386900	A A	AG AG	64	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	129	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.2+1257dupG c.2+1257dupG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34386900
chr21:34386956	T T	C C	1	a0001c0001t0001g0016 a0001c0001t0001g0016	1	HG01993.hp1 HG01993.hp1	intron_variant	MODIFIER	c.2+1312T>C c.2+1312T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34386956
chr21:34387087	G G	C C	12	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	16	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(13): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.2+1443G>C c.2+1443G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387087
chr21:34387104	C C	T T	2	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0004g0059 a0002c0002t0006g0053	2	HG01074.hp1 HG03041.hp2 HG01074.hp1 HG03041.hp2	intron_variant	MODIFIER	c.2+1460C>T c.2+1460C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387104
chr21:34387207	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-1422C>T c.3-1422C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387207
chr21:34387397	G G	A A	3	a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	3	HG01074.hp1 HG03041.hp2 HG03540.hp2 HG01074.hp1 HG03041.hp2 HG03540.hp2	intron_variant	MODIFIER	c.3-1232G>A c.3-1232G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387397
chr21:34387486	A A	AT AT	64	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0028 a0001c0001t0005g0054 a0001c0001t0007g0022 a0001c0001t0009g0007 a0001c0001t0010g0034 a0001c0001t0011g0014 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	129	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.3-1141dupT c.3-1141dupT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387486
chr21:34387555	T T	A A	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-1074T>A c.3-1074T>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387555
chr21:34387573	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-1056C>T c.3-1056C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387573
chr21:34387608	G G	A A	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-1021G>A c.3-1021G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387608
chr21:34387665	G G	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-964G>T c.3-964G>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387665
chr21:34387714	G G	A A	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-915G>A c.3-915G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387714
chr21:34387759	A A	ACTTT ACTTT	2	a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0011 a0001c0001t0001g0025	3	HG00735.hp1 HG02258.hp1 NA18522.hp1 HG00735.hp1 HG02258.hp1 NA18522.hp1	intron_variant	MODIFIER	c.3-845_3-842dupCT others(2): Show c.3-845_3-842dupCTTT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387759
chr21:34387759	ACTTT ACTTT	A A	1	a0001c0001t0001g0005 a0001c0001t0001g0005	4	HG01109.hp1 HG01517.hp2 HG02622.hp1 others(1): Show HG01109.hp1 HG01517.hp2 HG02622.hp1 HG02630.hp1	intron_variant	MODIFIER	c.3-845_3-842delCT others(2): Show c.3-845_3-842delCTTT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387759
chr21:34387772	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	2	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0056 a0001c0001t0004g0057	2	HG01952.hp1 NA19043.hp1 HG01952.hp1 NA19043.hp1	intron_variant	MODIFIER	c.3-853_3-841delCT others(11): Show c.3-853_3-841delCTTTCTTTCTTTT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387772
chr21:34387784	C C	CT CT	6	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0002g0049 a0001c0001t0009g0007	6	HG01175.hp1 HG01934.hp1 HG02027.hp1 others(3): Show HG01175.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 NA18522.hp2 NA18747.hp1	intron_variant	MODIFIER	c.3-828dupT c.3-828dupT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387784
chr21:34387784	CT CT	C C	5	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0002g0018 a0001c0001t0011g0014	14	HG01496.hp2 HG02293.hp1 HG02735.hp1 others(11): Show HG01496.hp2 HG02293.hp1 HG02735.hp1 HG02809.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 NA19011.hp2 NA19043.hp2	intron_variant	MODIFIER	c.3-828delT c.3-828delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387784
chr21:34387785	T T	TTTC TTTC	4	a0001c0001t0001g0024 a0001c0001t0001g0031 a0002c0002t0006g0053 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0002c0002t0006g0053 a0002c0002t0006g0058	4	HG01074.hp1 HG02258.hp2 HG02922.hp1 others(1): Show HG01074.hp1 HG02258.hp2 HG02922.hp1 HG03540.hp2	intron_variant	MODIFIER	c.3-842_3-841insCT others(1): Show c.3-842_3-841insCTT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34387785
chr21:34387802	A A	T T	1	a0001c0001t0001g0033 a0001c0001t0001g0033	1	HG02735.hp2 HG02735.hp2	intron_variant	MODIFIER	c.3-827A>T c.3-827A>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387802
chr21:34387884	A A	T T	1	a0001c0001t0005g0028 a0001c0001t0005g0028	1	NA19056.hp2 NA19056.hp2	intron_variant	MODIFIER	c.3-745A>T c.3-745A>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387884
chr21:34387887	T T	A A	1	a0001c0001t0005g0028 a0001c0001t0005g0028	1	NA19056.hp2 NA19056.hp2	intron_variant	MODIFIER	c.3-742T>A c.3-742T>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387887
chr21:34387967	T T	C C	7	a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 others(4): Show a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	7	HG01074.hp1 HG01952.hp1 HG03041.hp2 others(4): Show HG01074.hp1 HG01952.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1	intron_variant	MODIFIER	c.3-662T>C c.3-662T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34387967
chr21:34388036	T T	C C	1	a0001c0001t0012g0055 a0001c0001t0012g0055	1	HG03471.hp2 HG03471.hp2	intron_variant	MODIFIER	c.3-593T>C c.3-593T>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34388036
chr21:34388230	C C	T T	1	a0001c0003t0008g0042 a0001c0003t0008g0042	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.3-399C>T c.3-399C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34388230
chr21:34388280	C C	T T	1	a0001c0001t0001g0032 a0001c0001t0001g0032	1	HG01928.hp1 HG01928.hp1	intron_variant	MODIFIER	c.3-349C>T c.3-349C>T	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34388280
chr21:34388382	G G	C C	1	a0001c0001t0001g0060 a0001c0001t0001g0060	1	NA18522.hp2 NA18522.hp2	intron_variant	MODIFIER	c.3-247G>C c.3-247G>C	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34388382
chr21:34388400	A A	ACT ACT	13	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0005g0054 a0001c0001t0012g0055 a0001c0003t0008g0042 a0002c0002t0004g0059 a0002c0002t0006g0053 a0002c0002t0006g0058	18	HG00735.hp1 HG01074.hp1 HG01952.hp1 others(15): Show HG00735.hp1 HG01074.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp1	intron_variant	MODIFIER	c.3-228_3-227dupCT c.3-228_3-227dupCT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34388400
chr21:34388487	TA TA	T T	2	a0001c0001t0004g0057 a0001c0001t0007g0022 a0001c0001t0004g0057 a0001c0001t0007g0022	2	HG01952.hp1 HG02155.hp2 HG01952.hp1 HG02155.hp2	intron_variant	MODIFIER	c.3-139delA c.3-139delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr21	34388487
chr21:34388522	G G	A A	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.3-107G>A c.3-107G>A	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3		chr21	34388522

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Translation Multiple Alignment View

🧬 Gene Summary (with MANE)

AAmino acid(protein) Level Haplotype Info (Total: 2)

CCoding Level Haplotype Info (Total: 3)

TTranscript Level Haplotype Info (Total: 12)

GGenebody Level Haplotype Info (Total: 61)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 3)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 13)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 64)

Haplotype Details by Sample (Haploid Level) (Total: 129)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 1)

CCoding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 2)

TTranscript Level Haplotype Variants (Exon) (Total: 10)

GGenebody Level Haplotype Variants (Intron) (Total: 117)

External Link

Annotation (Repeats)

Annotation (SNP Array)