JoGo: Joint Open Genome and Omics Platform

Search by Genic region

geneid	101929983
ensemblid	ENSG00000274764.6
hgncid	51234
symbol	PRAMEF27
name	PRAME family member 27
refseq_nuc	NM_001300891.2
refseq_prot	NP_001287820.1
ensembl_nuc	ENST00000436041.6
ensembl_prot	ENSP00000393136.2
mane_status	MANE Select
chr	chr1
start	13049476
end	13056575
strand	-
ver	v1.2
region	chr1:13049476-13056575
region5000	chr1:13044476-13061575
regionname0	PRAMEF27_chr1_13049476_13056575
regionname5000	PRAMEF27_chr1_13044476_13061575

ahapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	478	103	2	35	59	6	1	38	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0002	0/0	478	3	0	0	3	0	0	3	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0003	0/0	478	3	0	0	3	0	0	2	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0004	0/0	478	3	0	1	0	2	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0005	0/0	478	2	0	2	0	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0006	0/0	478	1	0	1	0	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0007	0/0	478	1	0	0	0	0	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0008	0/0	478	1	0	0	1	0	0	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0009	0/0	478	1	0	1	0	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575

chapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	1437	101	2	33	59	6	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0002	0/0	1437	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0003	0/0	1437	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0004	0/0	1437	3	0	1	0	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0005	0/0	1437	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0006	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0007	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0008	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0009	0/0	1437	1	0	0	0	0	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0010	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
c0011	0/0	1437	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575

thapid	grch38 chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
t0001	0/0	511	108	2	36	61	7	2	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
t0002	0/0	511	3	0	1	1	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
t0003	0/0	511	2	0	0	2	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
t0004	0/0	511	2	0	0	2	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
t0005	0/0	511	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
t0006	0/0	511	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575

ghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
g0001	0/0	33	1	12	17	2	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0002	0/0	29	1	8	18	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0003	0/0	6	0	0	6	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0004	0/0	4	0	0	4	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0005	0/0	3	0	3	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0006	0/0	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0007	0/0	3	0	2	0	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0008	0/0	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0009	0/0	3	0	1	1	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0010	0/0	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0011	0/0	2	0	0	0	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0012	0/0	2	0	0	2	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0013	0/0	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0014	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0015	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0016	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0017	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0018	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0019	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0020	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0021	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0022	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0023	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0024	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0025	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0026	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0027	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0028	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0029	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0030	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0031	0/0	1	0	0	0	0	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0032	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0033	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0034	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0035	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
g0036	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575

achapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	1437	101	2	33	59	6	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0006	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0008	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0002c0002	0/0	1437	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0003c0003	0/0	1437	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0004c0004	0/0	1437	3	0	1	0	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0005c0005	0/0	1437	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0006c0010	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0007c0009	0/0	1437	1	0	0	0	0	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0008c0011	0/0	1437	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0009c0007	0/0	1437	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	1947	94	2	31	55	5	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0001t0002	0/0	1947	3	0	1	1	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0001t0003	0/0	1947	2	0	0	2	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0001t0004	0/0	1947	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0001t0006	0/0	1947	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0006t0001	0/0	1947	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0001c0008t0001	0/0	1947	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0002c0002t0001	0/0	1947	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0003c0003t0001	0/0	1947	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0004c0004t0001	0/0	1947	3	0	1	0	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0005c0005t0005	0/0	1947	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0006c0010t0001	0/0	1947	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0007c0009t0001	0/0	1947	1	0	0	0	0	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0008c0011t0004	0/0	1947	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575
a0009c0007t0001	0/0	1947	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	copy fasta	chr1	13044476	13061575

actghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	33	1	12	17	2	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0002	0/0	29	1	8	18	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0003	0/0	6	0	0	6	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0004	0/0	4	0	0	4	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0005	0/0	3	0	3	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0007	0/0	3	0	2	0	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0013	0/0	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0014	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0015	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0016	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0017	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0018	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0019	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0021	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0023	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0024	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0026	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0027	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0028	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0030	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0001g0032	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0002g0009	0/0	3	0	1	1	1	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0003g0012	0/0	2	0	0	2	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0004g0034	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0001t0006g0036	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0006t0001g0025	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0001c0008t0001g0020	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0002c0002t0001g0008	0/0	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0003c0003t0001g0006	0/0	3	0	0	3	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0004c0004t0001g0011	0/0	2	0	0	0	2	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0004c0004t0001g0022	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0005c0005t0005g0010	0/0	2	0	2	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0006c0010t0001g0033	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0007c0009t0001g0031	0/0	1	0	0	0	0	1	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0008c0011t0004g0035	0/0	1	0	0	1	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
a0009c0007t0001g0029	0/0	1	0	1	0	0	0	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00280	hp1	a0001	c0001	t0001	g0001	EUR	FIN	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00280	hp2	a0004	c0004	t0001	g0011	EUR	FIN	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00408	hp1	a0001	c0001	t0001	g0002	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00408	hp2	a0001	c0001	t0003	g0012	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00423	hp1	a0001	c0001	t0001	g0002	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00423	hp2	a0001	c0001	t0001	g0004	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00438	hp1	a0001	c0001	t0001	g0004	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00438	hp2	a0001	c0001	t0001	g0015	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00544	hp1	a0001	c0001	t0001	g0021	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00544	hp2	a0001	c0001	t0001	g0001	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00609	hp1	a0001	c0001	t0001	g0001	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00609	hp2	a0001	c0001	t0001	g0001	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00639	hp1	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00639	hp2	a0005	c0005	t0005	g0010	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00673	hp1	a0001	c0001	t0001	g0002	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00673	hp2	a0001	c0001	t0001	g0004	EAS	CHS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00733	hp1	a0001	c0001	t0001	g0002	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00733	hp2	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00735	hp1	a0001	c0001	t0001	g0019	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00735	hp2	a0004	c0004	t0001	g0022	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00738	hp1	a0005	c0005	t0005	g0010	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG00738	hp2	a0001	c0001	t0001	g0026	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01069	hp1	a0001	c0001	t0001	g0005	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01069	hp2	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01070	hp1	a0001	c0001	t0001	g0002	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01070	hp2	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01071	hp1	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01071	hp2	a0001	c0001	t0001	g0005	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01074	hp1	a0006	c0010	t0001	g0033	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01074	hp2	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01081	hp1	a0001	c0001	t0006	g0036	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01081	hp2	a0001	c0001	t0001	g0001	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01099	hp1	a0001	c0001	t0001	g0005	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01099	hp2	a0001	c0001	t0001	g0002	AMR	PUR	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01257	hp1	a0001	c0001	t0001	g0007	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01257	hp2	a0001	c0001	t0001	g0013	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01346	hp1	a0001	c0001	t0001	g0001	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01346	hp2	a0001	c0001	t0001	g0002	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01358	hp1	a0001	c0001	t0001	g0001	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01358	hp2	a0001	c0001	t0001	g0002	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01361	hp1	a0001	c0001	t0001	g0027	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01361	hp2	a0001	c0001	t0001	g0013	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01433	hp1	a0001	c0008	t0001	g0020	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01433	hp2	a0001	c0001	t0001	g0002	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01517	hp1	a0001	c0001	t0002	g0009	EUR	IBS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01517	hp2	a0001	c0001	t0001	g0007	EUR	IBS	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01943	hp1	a0001	c0001	t0001	g0001	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01943	hp2	a0001	c0001	t0001	g0001	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01993	hp1	a0001	c0001	t0001	g0023	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01993	hp2	a0001	c0001	t0001	g0001	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02004	hp1	a0001	c0001	t0001	g0002	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02004	hp2	a0009	c0007	t0001	g0029	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02132	hp1	a0001	c0001	t0001	g0001	EAS	KHV	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02132	hp2	a0001	c0001	t0002	g0009	EAS	KHV	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02135	hp1	a0003	c0003	t0001	g0006	EAS	KHV	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02135	hp2	a0001	c0001	t0001	g0001	EAS	KHV	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02165	hp1	a0001	c0001	t0001	g0001	EAS	CDX	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02165	hp2	a0001	c0001	t0001	g0002	EAS	CDX	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02258	hp1	a0001	c0001	t0001	g0001	AFR	ACB	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02258	hp2	a0001	c0001	t0001	g0002	AFR	ACB	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02293	hp1	a0001	c0006	t0001	g0025	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG02293	hp2	a0001	c0001	t0001	g0007	AMR	PEL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG03710	hp1	a0001	c0001	t0001	g0001	SAS	PJL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG03710	hp2	a0007	c0009	t0001	g0031	SAS	PJL	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18612	hp1	a0001	c0001	t0001	g0018	EAS	CHB	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18612	hp2	a0001	c0001	t0001	g0017	EAS	CHB	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18747	hp1	a0001	c0001	t0001	g0002	EAS	CHB	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18747	hp2	a0001	c0001	t0001	g0002	EAS	CHB	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18941	hp1	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18941	hp2	a0001	c0001	t0001	g0004	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18943	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18943	hp2	a0001	c0001	t0003	g0012	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18951	hp1	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18951	hp2	a0003	c0003	t0001	g0006	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18952	hp1	a0001	c0001	t0001	g0028	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18952	hp2	a0002	c0002	t0001	g0008	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18954	hp1	a0001	c0001	t0001	g0014	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18954	hp2	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18964	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18964	hp2	a0001	c0001	t0001	g0024	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18965	hp1	a0001	c0001	t0001	g0032	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18965	hp2	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18970	hp1	a0002	c0002	t0001	g0008	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18970	hp2	a0001	c0001	t0001	g0003	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18972	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18972	hp2	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18974	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18974	hp2	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18976	hp1	a0001	c0001	t0001	g0003	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18976	hp2	a0001	c0001	t0001	g0003	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18984	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18984	hp2	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18989	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA18989	hp2	a0001	c0001	t0004	g0034	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19001	hp1	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19001	hp2	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19011	hp1	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19011	hp2	a0001	c0001	t0001	g0003	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19054	hp1	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19054	hp2	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19058	hp1	a0002	c0002	t0001	g0008	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19058	hp2	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19074	hp1	a0008	c0011	t0004	g0035	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19074	hp2	a0001	c0001	t0001	g0003	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19079	hp1	a0003	c0003	t0001	g0006	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19079	hp2	a0001	c0001	t0001	g0016	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19081	hp1	a0001	c0001	t0001	g0030	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19081	hp2	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19085	hp1	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19085	hp2	a0001	c0001	t0001	g0003	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19088	hp1	a0001	c0001	t0001	g0002	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA19088	hp2	a0001	c0001	t0001	g0001	EAS	JPT	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA20752	hp1	a0001	c0001	t0001	g0002	EUR	TSI	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA20752	hp2	a0001	c0001	t0001	g0002	EUR	TSI	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA20805	hp1	a0001	c0001	t0001	g0001	EUR	TSI	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
NA20805	hp2	a0004	c0004	t0001	g0011	EUR	TSI	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01123	hp1	a0001	c0001	t0002	g0009	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575
HG01123	hp2	a0001	c0001	t0001	g0002	AMR	CLM	PRAMEF27_chr1_13044476_13061575	PRAMEF27	chr1	13044476	13061575

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	chr	pos
chr1:13049870	T T	A A	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1375A>T c.1375A>T	p.Asn459Tyr p.Asn459Tyr	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1553/1947	1375/1437	459/478	chr1	13049870
chr1:13049875	A A	G G	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1370T>C c.1370T>C	p.Ile457Thr p.Ile457Thr	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1548/1947	1370/1437	457/478	chr1	13049875
chr1:13049879	A A	C C	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1366T>G c.1366T>G	p.Cys456Gly p.Cys456Gly	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1544/1947	1366/1437	456/478	chr1	13049879
chr1:13049883	A A	C C	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1362T>G c.1362T>G	p.Phe454Leu p.Phe454Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1540/1947	1362/1437	454/478	chr1	13049883
chr1:13049919	G G	C C	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1326C>G c.1326C>G	p.Asn442Lys p.Asn442Lys	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1504/1947	1326/1437	442/478	chr1	13049919
chr1:13049945	C C	T T	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1300G>A c.1300G>A	p.Ala434Thr p.Ala434Thr	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1478/1947	1300/1437	434/478	chr1	13049945
chr1:13049953	T T	C C	2	a0005 a0008 a0005 a0008	3	HG00639.hp2 HG00738.hp1 NA19074.hp1 HG00639.hp2 HG00738.hp1 NA19074.hp1	missense_variant	MODERATE	c.1292A>G c.1292A>G	p.Asn431Ser p.Asn431Ser	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1470/1947	1292/1437	431/478	chr1	13049953
chr1:13049989	C C	T T	1	a0008 a0008	1	NA19074.hp1 NA19074.hp1	missense_variant	MODERATE	c.1256G>A c.1256G>A	p.Arg419Gln p.Arg419Gln	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1434/1947	1256/1437	419/478	chr1	13049989
chr1:13050005	C C	G G	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1240G>C c.1240G>C	p.Val414Leu p.Val414Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1418/1947	1240/1437	414/478	chr1	13050005
chr1:13050011	C C	G G	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1234G>C c.1234G>C	p.Val412Leu p.Val412Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1412/1947	1234/1437	412/478	chr1	13050011
chr1:13050095	C C	T T	1	a0005 a0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	missense_variant	MODERATE	c.1150G>A c.1150G>A	p.Ala384Thr p.Ala384Thr	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1328/1947	1150/1437	384/478	chr1	13050095
chr1:13050105	A A	C C	1	a0008 a0008	1	NA19074.hp1 NA19074.hp1	missense_variant	MODERATE	c.1140T>G c.1140T>G	p.Phe380Leu p.Phe380Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1318/1947	1140/1437	380/478	chr1	13050105
chr1:13050190	G G	A A	1	a0008 a0008	1	NA19074.hp1 NA19074.hp1	missense_variant	MODERATE	c.1055C>T c.1055C>T	p.Ala352Val p.Ala352Val	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1233/1947	1055/1437	352/478	chr1	13050190
chr1:13050220	G G	A A	1	a0007 a0007	1	HG03710.hp2 HG03710.hp2	missense_variant	MODERATE	c.1025C>T c.1025C>T	p.Pro342Leu p.Pro342Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1203/1947	1025/1437	342/478	chr1	13050220
chr1:13050347	C C	A A	1	a0004 a0004	3	HG00280.hp2 HG00735.hp2 NA20805.hp2 HG00280.hp2 HG00735.hp2 NA20805.hp2	missense_variant	MODERATE	c.898G>T c.898G>T	p.Val300Phe p.Val300Phe	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1076/1947	898/1437	300/478	chr1	13050347
chr1:13052166	T T	G G	1	a0006 a0006	1	HG01074.hp1 HG01074.hp1	missense_variant	MODERATE	c.827A>C c.827A>C	p.Tyr276Ser p.Tyr276Ser	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	1005/1947	827/1437	276/478	chr1	13052166
chr1:13052338	C C	T T	1	a0003 a0003	3	HG02135.hp1 NA18951.hp2 NA19079.hp1 HG02135.hp1 NA18951.hp2 NA19079.hp1	missense_variant	MODERATE	c.655G>A c.655G>A	p.Val219Ile p.Val219Ile	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	833/1947	655/1437	219/478	chr1	13052338
chr1:13052556	T T	C C	2	a0002 a0008 a0002 a0008	4	NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show NA18952.hp2 NA18970.hp1 NA19058.hp1 NA19074.hp1	missense_variant	MODERATE	c.437A>G c.437A>G	p.Gln146Arg p.Gln146Arg	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	615/1947	437/1437	146/478	chr1	13052556
chr1:13052589	G G	T T	1	a0002 a0002	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	missense_variant	MODERATE	c.404C>A c.404C>A	p.Thr135Lys p.Thr135Lys	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	582/1947	404/1437	135/478	chr1	13052589
chr1:13052616	G G	C C	2	a0002 a0008 a0002 a0008	4	NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show NA18952.hp2 NA18970.hp1 NA19058.hp1 NA19074.hp1	missense_variant	MODERATE	c.377C>G c.377C>G	p.Ser126Cys p.Ser126Cys	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	555/1947	377/1437	126/478	chr1	13052616
chr1:13052622	C C	T T	1	a0002 a0002	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	missense_variant	MODERATE	c.371G>A c.371G>A	p.Arg124His p.Arg124His	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	549/1947	371/1437	124/478	chr1	13052622
chr1:13053512	A A	G G	2	a0008 a0009 a0008 a0009	2	HG02004.hp2 NA19074.hp1 HG02004.hp2 NA19074.hp1	missense_variant	MODERATE	c.148T>C c.148T>C	p.Cys50Arg p.Cys50Arg	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/4	326/1947	148/1437	50/478	chr1	13053512

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	chr	pos
chr1:13049871	A A	G G	2	a0005c0005 a0008c0011 a0005c0005 a0008c0011	3	HG00639.hp2 HG00738.hp1 NA19074.hp1 HG00639.hp2 HG00738.hp1 NA19074.hp1	synonymous_variant	LOW	c.1374T>C c.1374T>C	p.Asp458Asp p.Asp458Asp	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1552/1947	1374/1437	458/478	chr1	13049871
chr1:13049913	C C	A A	1	a0005c0005 a0005c0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	synonymous_variant	LOW	c.1332G>T c.1332G>T	p.Val444Val p.Val444Val	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1510/1947	1332/1437	444/478	chr1	13049913
chr1:13049940	T T	C C	1	a0005c0005 a0005c0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	synonymous_variant	LOW	c.1305A>G c.1305A>G	p.Gln435Gln p.Gln435Gln	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1483/1947	1305/1437	435/478	chr1	13049940
chr1:13049991	C C	T T	1	a0005c0005 a0005c0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	synonymous_variant	LOW	c.1254G>A c.1254G>A	p.Pro418Pro p.Pro418Pro	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1432/1947	1254/1437	418/478	chr1	13049991
chr1:13050096	A A	G G	1	a0005c0005 a0005c0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	synonymous_variant	LOW	c.1149T>C c.1149T>C	p.Asn383Asn p.Asn383Asn	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1327/1947	1149/1437	383/478	chr1	13050096
chr1:13050135	G G	A A	1	a0008c0011 a0008c0011	1	NA19074.hp1 NA19074.hp1	synonymous_variant	LOW	c.1110C>T c.1110C>T	p.Asn370Asn p.Asn370Asn	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1288/1947	1110/1437	370/478	chr1	13050135
chr1:13050176	A A	G G	2	a0005c0005 a0008c0011 a0005c0005 a0008c0011	3	HG00639.hp2 HG00738.hp1 NA19074.hp1 HG00639.hp2 HG00738.hp1 NA19074.hp1	synonymous_variant	LOW	c.1069T>C c.1069T>C	p.Leu357Leu p.Leu357Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	1247/1947	1069/1437	357/478	chr1	13050176
chr1:13052267	A A	G G	1	a0008c0011 a0008c0011	1	NA19074.hp1 NA19074.hp1	synonymous_variant	LOW	c.726T>C c.726T>C	p.Ser242Ser p.Ser242Ser	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/4	904/1947	726/1437	242/478	chr1	13052267
chr1:13053399	A A	C C	2	a0001c0008 a0008c0011 a0001c0008 a0008c0011	2	HG01433.hp1 NA19074.hp1 HG01433.hp1 NA19074.hp1	synonymous_variant	LOW	c.261T>G c.261T>G	p.Leu87Leu p.Leu87Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/4	439/1947	261/1437	87/478	chr1	13053399
chr1:13053561	C C	T T	1	a0001c0006 a0001c0006	1	HG02293.hp1 HG02293.hp1	synonymous_variant	LOW	c.99G>A c.99G>A	p.Leu33Leu p.Leu33Leu	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/4	277/1947	99/1437	33/478	chr1	13053561
chr1:13053588	G G	A A	1	a0008c0011 a0008c0011	1	NA19074.hp1 NA19074.hp1	synonymous_variant	LOW	c.72C>T c.72C>T	p.Ala24Ala p.Ala24Ala	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/4	250/1947	72/1437	24/478	chr1	13053588

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	pos
chr1:13049556	G G	A A	1	a0001c0001t0002 a0001c0001t0002	3	HG01123.hp1 HG01517.hp1 HG02132.hp2 HG01123.hp1 HG01517.hp1 HG02132.hp2	3_prime_UTR_variant	MODIFIER	c.252C>T c.252C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	252	chr1	13049556
chr1:13049559	C C	T T	15	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0005 a0006c0010t0001 a0007c0009t0001 a0008c0011t0004 a0009c0007t0001	118	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(115): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG03710.hp1 HG03710.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18976.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA19001.hp1 NA19001.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	3_prime_UTR_variant	MODIFIER	c.249G>A c.249G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	249	chr1	13049559
chr1:13049621	A A	G G	2	a0001c0001t0004 a0008c0011t0004 a0001c0001t0004 a0008c0011t0004	2	NA18989.hp2 NA19074.hp1 NA18989.hp2 NA19074.hp1	3_prime_UTR_variant	MODIFIER	c.187T>C c.187T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	187	chr1	13049621
chr1:13049662	T T	C C	1	a0001c0001t0003 a0001c0001t0003	2	HG00408.hp2 NA18943.hp2 HG00408.hp2 NA18943.hp2	3_prime_UTR_variant	MODIFIER	c.146A>G c.146A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	146	chr1	13049662
chr1:13049671	T T	A A	3	a0001c0001t0004 a0005c0005t0005 a0008c0011t0004 a0001c0001t0004 a0005c0005t0005 a0008c0011t0004	4	HG00639.hp2 HG00738.hp1 NA18989.hp2 others(1): Show HG00639.hp2 HG00738.hp1 NA18989.hp2 NA19074.hp1	3_prime_UTR_variant	MODIFIER	c.137A>T c.137A>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	137	chr1	13049671
chr1:13049694	T T	C C	1	a0005c0005t0005 a0005c0005t0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	3_prime_UTR_variant	MODIFIER	c.114A>G c.114A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	114	chr1	13049694
chr1:13049705	T T	C C	1	a0005c0005t0005 a0005c0005t0005	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	3_prime_UTR_variant	MODIFIER	c.103A>G c.103A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	4/4	103	chr1	13049705
chr1:13056574	C C	A A	1	a0001c0001t0006 a0001c0001t0006	1	HG01081.hp1 HG01081.hp1	5_prime_UTR_variant	MODIFIER	c.-177G>T c.-177G>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/4	2915	chr1	13056574

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	chr	pos
chr1:13050459	C C	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-90G>T c.876-90G>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050459
chr1:13050461	A A	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-92T>A c.876-92T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050461
chr1:13050511	A A	G G	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-142T>C c.876-142T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050511
chr1:13050554	C C	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-185G>A c.876-185G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050554
chr1:13050669	C C	G G	2	a0001c0001t0001g0021 a0004c0004t0001g0022 a0001c0001t0001g0021 a0004c0004t0001g0022	2	HG00544.hp1 HG00735.hp2 HG00544.hp1 HG00735.hp2	intron_variant	MODIFIER	c.876-300G>C c.876-300G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050669
chr1:13050756	T T	C C	3	a0001c0001t0001g0003 a0001c0001t0001g0032 a0002c0002t0001g0008 a0001c0001t0001g0003 a0001c0001t0001g0032 a0002c0002t0001g0008	10	NA18952.hp2 NA18965.hp1 NA18970.hp1 others(7): Show NA18952.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18976.hp1 NA18976.hp2 NA19011.hp2 NA19058.hp1 NA19074.hp2 NA19085.hp2	intron_variant	MODIFIER	c.876-387A>G c.876-387A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050756
chr1:13050869	A A	G G	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-500T>C c.876-500T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050869
chr1:13050981	A A	G G	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-612T>C c.876-612T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050981
chr1:13050996	T T	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.876-627A>T c.876-627A>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13050996
chr1:13051235	T T	C C	1	a0001c0001t0001g0032 a0001c0001t0001g0032	1	NA18965.hp1 NA18965.hp1	intron_variant	MODIFIER	c.876-866A>G c.876-866A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051235
chr1:13051248	G G	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+870C>A c.875+870C>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051248
chr1:13051304	C C	G G	22	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0003g0012 a0001c0001t0004g0034 a0001c0001t0006g0036 a0002c0002t0001g0008 a0006c0010t0001g0033 a0007c0009t0001g0031 a0009c0007t0001g0029	72	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG03710.hp1 HG03710.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18976.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp1	intron_variant	MODIFIER	c.875+814G>C c.875+814G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051304
chr1:13051317	T T	C C	2	a0001c0001t0004g0034 a0008c0011t0004g0035 a0001c0001t0004g0034 a0008c0011t0004g0035	2	NA18989.hp2 NA19074.hp1 NA18989.hp2 NA19074.hp1	intron_variant	MODIFIER	c.875+801A>G c.875+801A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051317
chr1:13051318	A A	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+800T>G c.875+800T>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051318
chr1:13051327	G G	T T	2	a0001c0001t0004g0034 a0008c0011t0004g0035 a0001c0001t0004g0034 a0008c0011t0004g0035	2	NA18989.hp2 NA19074.hp1 NA18989.hp2 NA19074.hp1	intron_variant	MODIFIER	c.875+791C>A c.875+791C>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051327
chr1:13051387	G G	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+731C>T c.875+731C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051387
chr1:13051400	G G	T T	21	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0003g0012 a0001c0001t0004g0034 a0002c0002t0001g0008 a0006c0010t0001g0033 a0007c0009t0001g0031 a0009c0007t0001g0029	71	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(68): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG03710.hp1 HG03710.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18976.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp1	intron_variant	MODIFIER	c.875+718C>A c.875+718C>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051400
chr1:13051402	C C	T T	22	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0003g0012 a0001c0001t0004g0034 a0001c0001t0006g0036 a0002c0002t0001g0008 a0006c0010t0001g0033 a0007c0009t0001g0031 a0009c0007t0001g0029	72	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG03710.hp1 HG03710.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18976.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp1	intron_variant	MODIFIER	c.875+716G>A c.875+716G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051402
chr1:13051433	T T	G G	1	a0001c0001t0006g0036 a0001c0001t0006g0036	1	HG01081.hp1 HG01081.hp1	intron_variant	MODIFIER	c.875+685A>C c.875+685A>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051433
chr1:13051492	C C	G G	1	a0001c0001t0006g0036 a0001c0001t0006g0036	1	HG01081.hp1 HG01081.hp1	intron_variant	MODIFIER	c.875+626G>C c.875+626G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051492
chr1:13051495	A A	G G	1	a0001c0001t0006g0036 a0001c0001t0006g0036	1	HG01081.hp1 HG01081.hp1	intron_variant	MODIFIER	c.875+623T>C c.875+623T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051495
chr1:13051500	T T	C C	1	a0001c0001t0006g0036 a0001c0001t0006g0036	1	HG01081.hp1 HG01081.hp1	intron_variant	MODIFIER	c.875+618A>G c.875+618A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051500
chr1:13051522	A A	G G	1	a0001c0001t0006g0036 a0001c0001t0006g0036	1	HG01081.hp1 HG01081.hp1	intron_variant	MODIFIER	c.875+596T>C c.875+596T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051522
chr1:13051542	C C	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+576G>A c.875+576G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051542
chr1:13051582	G G	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+536C>A c.875+536C>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051582
chr1:13051596	T T	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+522A>G c.875+522A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051596
chr1:13051670	C C	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+448G>T c.875+448G>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051670
chr1:13051675	C C	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+443G>A c.875+443G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051675
chr1:13051761	A A	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+357T>G c.875+357T>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051761
chr1:13051786	C C	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+332G>A c.875+332G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051786
chr1:13051875	T T	G G	2	a0001c0001t0001g0023 a0008c0011t0004g0035 a0001c0001t0001g0023 a0008c0011t0004g0035	2	HG01993.hp1 NA19074.hp1 HG01993.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+243A>C c.875+243A>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051875
chr1:13051894	A A	G G	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+224T>C c.875+224T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051894
chr1:13051992	T T	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+126A>G c.875+126A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13051992
chr1:13052060	C C	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+58G>A c.875+58G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13052060
chr1:13052064	T T	G G	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+54A>C c.875+54A>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13052064
chr1:13052066	G G	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+52C>G c.875+52C>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13052066
chr1:13052069	A A	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.875+49T>A c.875+49T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	3/3	chr1	13052069
chr1:13052718	G G	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.294-19C>T c.294-19C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052718
chr1:13052722	C C	A A	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-23G>T c.294-23G>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052722
chr1:13052732	A A	C C	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-33T>G c.294-33T>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052732
chr1:13052749	T T	C C	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-50A>G c.294-50A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052749
chr1:13052782	C C	T T	1	a0001c0001t0001g0005 a0001c0001t0001g0005	3	HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1	intron_variant	MODIFIER	c.294-83G>A c.294-83G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052782
chr1:13052821	T T	C C	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-122A>G c.294-122A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052821
chr1:13052827	C C	T T	2	a0002c0002t0001g0008 a0008c0011t0004g0035 a0002c0002t0001g0008 a0008c0011t0004g0035	4	NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show NA18952.hp2 NA18970.hp1 NA19058.hp1 NA19074.hp1	intron_variant	MODIFIER	c.294-128G>A c.294-128G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052827
chr1:13052842	A A	G G	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-143T>C c.294-143T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052842
chr1:13052862	GT GT	G G	3	a0001c0001t0001g0030 a0002c0002t0001g0008 a0008c0011t0004g0035 a0001c0001t0001g0030 a0002c0002t0001g0008 a0008c0011t0004g0035	5	NA18952.hp2 NA18970.hp1 NA19058.hp1 others(2): Show NA18952.hp2 NA18970.hp1 NA19058.hp1 NA19074.hp1 NA19081.hp1	intron_variant	MODIFIER	c.294-164delA c.294-164delA	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052862
chr1:13052869	T T	C C	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-170A>G c.294-170A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052869
chr1:13052874	G G	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.294-175C>G c.294-175C>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052874
chr1:13052904	A A	G G	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-205T>C c.294-205T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052904
chr1:13052922	G G	A A	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-223C>T c.294-223C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052922
chr1:13052948	T T	C C	2	a0002c0002t0001g0008 a0008c0011t0004g0035 a0002c0002t0001g0008 a0008c0011t0004g0035	4	NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show NA18952.hp2 NA18970.hp1 NA19058.hp1 NA19074.hp1	intron_variant	MODIFIER	c.294-249A>G c.294-249A>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13052948
chr1:13053001	G G	A A	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-302C>T c.294-302C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053001
chr1:13053006	C C	G G	3	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0034 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0034	6	HG00423.hp2 HG00438.hp1 HG00673.hp2 others(3): Show HG00423.hp2 HG00438.hp1 HG00673.hp2 NA18941.hp2 NA18989.hp2 NA19081.hp1	intron_variant	MODIFIER	c.294-307G>C c.294-307G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053006
chr1:13053011	A A	T T	3	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0034 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0034	6	HG00423.hp2 HG00438.hp1 HG00673.hp2 others(3): Show HG00423.hp2 HG00438.hp1 HG00673.hp2 NA18941.hp2 NA18989.hp2 NA19081.hp1	intron_variant	MODIFIER	c.294-312T>A c.294-312T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053011
chr1:13053027	A A	T T	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.294-328T>A c.294-328T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053027
chr1:13053084	A A	G G	1	a0002c0002t0001g0008 a0002c0002t0001g0008	3	NA18952.hp2 NA18970.hp1 NA19058.hp1 NA18952.hp2 NA18970.hp1 NA19058.hp1	intron_variant	MODIFIER	c.293+283T>C c.293+283T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053084
chr1:13053101	T T	G G	1	a0001c0001t0004g0034 a0001c0001t0004g0034	1	NA18989.hp2 NA18989.hp2	intron_variant	MODIFIER	c.293+266A>C c.293+266A>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053101
chr1:13053207	G G	A A	1	a0001c0001t0001g0024 a0001c0001t0001g0024	1	NA18964.hp2 NA18964.hp2	intron_variant	MODIFIER	c.293+160C>T c.293+160C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053207
chr1:13053273	C C	G G	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+94G>C c.293+94G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053273
chr1:13053298	C C	G G	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+69G>C c.293+69G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053298
chr1:13053299	A A	T T	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+68T>A c.293+68T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053299
chr1:13053306	C C	A A	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+61G>T c.293+61G>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053306
chr1:13053312	G G	C C	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+55C>G c.293+55C>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053312
chr1:13053319	C C	T T	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+48G>A c.293+48G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053319
chr1:13053320	A A	G G	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+47T>C c.293+47T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053320
chr1:13053327	C C	T T	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG00544.hp1 HG00544.hp1	intron_variant	MODIFIER	c.293+40G>A c.293+40G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053327
chr1:13053357	G G	C C	2	a0001c0001t0001g0026 a0008c0011t0004g0035 a0001c0001t0001g0026 a0008c0011t0004g0035	2	HG00738.hp2 NA19074.hp1 HG00738.hp2 NA19074.hp1	intron_variant	MODIFIER	c.293+10C>G c.293+10C>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	2/3	chr1	13053357
chr1:13053768	A A	C C	1	a0001c0008t0001g0020 a0001c0008t0001g0020	1	HG01433.hp1 HG01433.hp1	intron_variant	MODIFIER	c.-16-93T>G c.-16-93T>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13053768
chr1:13053802	G G	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.-16-127C>T c.-16-127C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13053802
chr1:13053804	C C	T T	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.-16-129G>A c.-16-129G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13053804
chr1:13053834	G G	C C	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.-16-159C>G c.-16-159C>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13053834
chr1:13053985	G G	A A	1	a0008c0011t0004g0035 a0008c0011t0004g0035	1	NA19074.hp1 NA19074.hp1	intron_variant	MODIFIER	c.-16-310C>T c.-16-310C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13053985
chr1:13053996	G G	T T	1	a0001c0001t0001g0028 a0001c0001t0001g0028	1	NA18952.hp1 NA18952.hp1	intron_variant	MODIFIER	c.-16-321C>A c.-16-321C>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13053996
chr1:13054059	A A	T T	1	a0001c0001t0001g0027 a0001c0001t0001g0027	1	HG01361.hp1 HG01361.hp1	intron_variant	MODIFIER	c.-16-384T>A c.-16-384T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054059
chr1:13054313	A A	G G	1	a0001c0001t0001g0019 a0001c0001t0001g0019	1	HG00735.hp1 HG00735.hp1	intron_variant	MODIFIER	c.-16-638T>C c.-16-638T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054313
chr1:13054333	G G	C C	1	a0001c0006t0001g0025 a0001c0006t0001g0025	1	HG02293.hp1 HG02293.hp1	intron_variant	MODIFIER	c.-16-658C>G c.-16-658C>G	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054333
chr1:13054446	A A	G G	1	a0001c0001t0001g0018 a0001c0001t0001g0018	1	NA18612.hp1 NA18612.hp1	intron_variant	MODIFIER	c.-16-771T>C c.-16-771T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054446
chr1:13054448	G G	T T	1	a0005c0005t0005g0010 a0005c0005t0005g0010	2	HG00639.hp2 HG00738.hp1 HG00639.hp2 HG00738.hp1	intron_variant	MODIFIER	c.-16-773C>A c.-16-773C>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054448
chr1:13054582	C C	T T	1	a0001c0001t0001g0026 a0001c0001t0001g0026	1	HG00738.hp2 HG00738.hp2	intron_variant	MODIFIER	c.-16-907G>A c.-16-907G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054582
chr1:13054685	A A	T T	20	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0003g0012 a0001c0001t0004g0034 a0002c0002t0001g0008 a0006c0010t0001g0033 a0007c0009t0001g0031 a0008c0011t0004g0035 a0009c0007t0001g0029	66	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(63): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG03710.hp1 HG03710.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18976.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp1	intron_variant	MODIFIER	c.-16-1010T>A c.-16-1010T>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054685
chr1:13054856	T T	TA TA	20	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0003g0012 a0001c0001t0004g0034 a0002c0002t0001g0008 a0006c0010t0001g0033 a0007c0009t0001g0031 a0008c0011t0004g0035 a0009c0007t0001g0029	66	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(63): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG03710.hp1 HG03710.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18976.hp1 NA18976.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp1	intron_variant	MODIFIER	c.-16-1182_-16-1181i others(3): Show c.-16-1182_-16-1181insT	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13054856
chr1:13055612	A A	G G	1	a0001c0001t0001g0017 a0001c0001t0001g0017	1	NA18612.hp2 NA18612.hp2	intron_variant	MODIFIER	c.-17+802T>C c.-17+802T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13055612
chr1:13055932	A A	G G	1	a0001c0001t0001g0016 a0001c0001t0001g0016	1	NA19079.hp2 NA19079.hp2	intron_variant	MODIFIER	c.-17+482T>C c.-17+482T>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13055932
chr1:13056119	C C	T T	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG00438.hp2 HG00438.hp2	intron_variant	MODIFIER	c.-17+295G>A c.-17+295G>A	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13056119
chr1:13056176	G G	A A	1	a0001c0001t0001g0013 a0001c0001t0001g0013	2	HG01257.hp2 HG01361.hp2 HG01257.hp2 HG01361.hp2	intron_variant	MODIFIER	c.-17+238C>T c.-17+238C>T	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13056176
chr1:13056370	C C	G G	1	a0001c0001t0001g0014 a0001c0001t0001g0014	1	NA18954.hp1 NA18954.hp1	intron_variant	MODIFIER	c.-17+44G>C c.-17+44G>C	PRAMEF27	ENSG00000274764.6	transcript	ENST00000436041.6	protein_coding	1/3	chr1	13056370

Search by Genic region

Search

🧬 JoGo Online Haplotype Explorer PRAMEF27_chr1_13044476_13061575

JoGo Local Haplotype Explorer (on iGV) PRAMEF27_chr1_13044476_13061575

Translation Multiple Alignment View

ACTG-Haplotype Mutation Positions 3D Viewer

🧬 Gene Summary

AAmino acid(protein) Level Haplotype Info (Total: 9)

CCoding Level Haplotype Info (Total: 11)

TTranscript Level Haplotype Info (Total: 6)

GGenebody Level Haplotype Info (Total: 36)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 11)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 15)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 36)

Haplotype Details by Sample (Haploid Level) (Total: 118)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 22)

CCoding Level Variants (Synonymous Mutations) (Total: 11)

TTranscript Level Haplotype Variants (5'UTR+3'UTR) (Total: 8)

GGenebody Level Haplotype Variants (Intron) (Total: 86)

External Link

Annotation (Repeats)

Annotation (SNP Array)