Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PEBP4_chr8_22708251_22932914	22898389	CCCAAAAA others(15): Show CCCAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0011 a0004c0008t0006g0011	1	278	0.0036	-22	c.258 others(41): Show c.258+21773_258+21794delTTTTTTTTTTTTTTTTTTTTGG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEMT_chr17_17500563_17596708	17554154	CTGTTTCT others(15): Show CTGTTTCTCTCACAGACATACCT	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	348	0.0029	-22	c.204 others(41): Show c.204+22744_204+22765delAGGTATGTCTGTGAGAGAAACA	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	2/6			chr17	TogoVar
PEMT_chr17_17500563_17596708	17586272	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp1 HG03471.hp1 others(2): Show HG01109.hp1 HG02895.hp1 HG03471.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080	5	348	0.0144	-22	c.96+ others(37): Show c.96+5237_96+5258delTTTTTTCTTTCTTTCTTTCTTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PEPD_chr19_33381950_33526791	33487781	GTTTGCAG others(15): Show GTTTGCAGAGCACAGGCTCCTCT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	314	0.0032	-22	c.503 others(39): Show c.503+2193_503+2214delAGAGGAGCCTGTGCTCTGCAAA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	6/14			chr19	TogoVar
PEX12_chr17_35569795_35583571	35570714	TTTTCTTT others(15): Show TTTTCTTTCTTTCTTTCTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG03098.hp1 others(1): Show HG02258.hp1 HG02486.hp2 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	4	436	0.0092	-22	c.50 others(33): Show c.5046_*5067delGAAAGAGAAAGAAAGAAAGAAA	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		4080		chr17	TogoVar
PEX12_chr17_35569795_35583571	35581273	AATATATA others(15): Show AATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp1 HG03516.hp1 others(17): Show HG00544.hp2 HG02717.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18612.hp1 NA18942.hp2 NA18946.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18978.hp1 NA18986.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp2 NA19072.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0005 a0001c0001t0007g0007 a0001c0001t0006g0005 a0001c0001t0007g0007	20	436	0.0459	-22	c.-32 others(33): Show c.-3274_-3253delATATATATATATATATATATAT	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		2703		chr17	TogoVar
PEX12_chr17_35569795_35583571	35583115	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA19043.hp1 HG02071.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0032 a0001c0001t0001g0001 a0001c0001t0011g0032	2	436	0.0046	-22	c.-51 others(33): Show c.-5116_-5095delAAAAAAAAAAAAAAAAAAAAAA	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		4545		chr17	TogoVar
PEX14_chr1_10469950_10635758	10577546	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01934.hp1 HG00735.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0004 a0001c0016t0001 a0001c0001t0004 a0001c0016t0001	a0001c0001t0004g0030 a0001c0016t0001g0070 a0001c0001t0004g0030 a0001c0016t0001g0070	2	258	0.0078	-22	c.170 others(41): Show c.170-21690_170-21669delATATATATATATATATTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577550	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03540.hp2 NA19000.hp1 HG01175.hp1 HG03540.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0075 a0001c0003t0001g0105 a0001c0004t0001g0161 a0001c0001t0001g0075 a0001c0003t0001g0105 a0001c0004t0001g0161	3	258	0.0116	-22	c.170 others(41): Show c.170-21686_170-21665delATATATATATATTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577558	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	258	0.0039	-22	c.170 others(41): Show c.170-21678_170-21657delATATTTTTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577562	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	258	0.0039	-22	c.170 others(41): Show c.170-21649_170-21628delTTTTTTTTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92515067	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	310	0.0032	-22	c.124 others(41): Show c.1240-1122_1240-1101delTATATATATATATATATATATA	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX26_chr22_18072990_18110396	18097180	GACACAGA others(15): Show GACACAGAGCCAAACCATATCAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0016 a0001c0001t0141g0016	1	398	0.0025	-22	c.91 others(33): Show c.9106_*9127delACACAGAGCCAAACCATATCAC	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding	5/5	9106		chr22	TogoVar
PEX5_chr12_7184686_7216459	7197100	TATATATG others(15): Show TATATATGTCATATAATGTAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00738.hp2 others(19): Show HG00140.hp1 HG00544.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01993.hp2 HG02683.hp1 HG02683.hp2 HG02965.hp1 HG03688.hp1 HG04115.hp1 NA19057.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0010g0296	22	428	0.0514	-22	c.449 others(39): Show c.449-1896_449-1875delATGTAATAATATATGTCATATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197242	TTATATGT others(15): Show TTATATGTCATATGTAATAATTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp2 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0097 a0001c0001t0001g0116	2	428	0.0047	-22	c.449 others(39): Show c.449-1756_449-1735delGTAATAATTATATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PF4V1_chr4_73848296_73859483	73855087	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp2 NA19005.hp1 NA18961.hp1 NA18961.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	448	0.0067	-22	c.96 others(31): Show c.966_*987delTATATATATATATATATATTTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		605		chr4	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01256.hp1 HG01496.hp2 others(8): Show HG00642.hp2 HG01256.hp1 HG01496.hp2 HG01975.hp1 HG02293.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03492.hp1 NA18967.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	11	366	0.0301	-22	c.-23 others(31): Show c.-233_-212delTTTTTTTTTTTTTTTTTTTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		138		chr4	TogoVar
PFDN2_chr1_161095561_161123037	161097718	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	370	0.0027	-22	c.29 others(33): Show c.2943_*2964delCACAGAGAGAGAGAGAGAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2842		chr1	TogoVar
PFDN2_chr1_161095561_161123037	161097726	CTCTCTCT others(15): Show CTCTCTCTCTCTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	370	0.0027	-22	c.29 others(33): Show c.2935_*2956delCACACACACACAGAGAGAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2834		chr1	TogoVar
PFDN4_chr20_54203087_54224961	54208481	TTGACTCG others(15): Show TTGACTCGGGCGTTGCACCGGCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01516.hp2 HG01517.hp2 others(8): Show HG01109.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0002g0094	11	438	0.0251	-22	c.24+ others(35): Show c.24+361_24+382delCTCGGGCGTTGCACCGGCATGA	PFDN4	ENSG00000101132.10	transcript	ENST00000371419.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
PFKFB2_chr1_207048275_207082817	207061129	CTTTATAT others(15): Show CTTTATATATATCTTTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	342	0.0029	-22	c.86- others(35): Show c.86-800_86-779delTTATATATATCTTTATATATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB2_chr1_207048275_207082817	207061165	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	342	0.0029	-22	c.86- others(35): Show c.86-772_86-751delATATATATATATATATATATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6210346	GTTTTTTT others(15): Show GTTTTTTTTTGTTTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0346 a0001c0001t0036g0346	1	432	0.0023	-22	c.77- others(37): Show c.77-3267_77-3246delGTTTTTTTGTTTTTTTTTTTTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB4_chr3_48512684_48561803	48559898	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0151 a0001c0001t0008g0151	1	246	0.0041	-22	c.-31 others(33): Show c.-3143_-3122delTGTGTGTGTGTGTGTGTGTGTG	PFKFB4	ENSG00000114268.12	transcript	ENST00000232375.8	protein_coding		3096		chr3	TogoVar
PFKP_chr10_3062548_3141802	3076502	TCTCCGAT others(15): Show TCTCCGATTGTCAATGGCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0004 a0002c0013t0004	a0002c0013t0004g0026 a0002c0013t0004g0026	1	402	0.0025	-22	c.113 others(39): Show c.113-5881_113-5860delGATTGTCAATGGCAGCCCCTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132717343	AGGGTGGA others(15): Show AGGGTGGAGGAGGGCGTGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0118 a0001c0001t0042g0118	1	394	0.0025	-22	c.371 others(35): Show c.371-92_371-71delTGGAGGAGGGCGTGTTTGCGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGLYRP2_chr19_15463645_15484501	15473470	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02109.hp2 NA19043.hp1 HG01934.hp2 HG02109.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0023 a0002c0002 a0002c0023	a0002c0002t0001 a0002c0023t0001 a0002c0002t0001 a0002c0023t0001	a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0023t0001g0119 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0023t0001g0119	3	382	0.0079	-22	c.113 others(41): Show c.1133-1392_1133-1371delTTTTTTTTTTTTTTTTTTTTTT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	2/4			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15482561	TTTCTTCC others(15): Show TTTCTTCCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	382	0.0026	-22	c.-32 others(33): Show c.-3212_-3191delGAAGGAAGGAAGGAAGGAAGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3061		chr19	TogoVar
PGM1_chr1_63588411_63665245	63633898	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01952.hp1 HG01952.hp2 others(20): Show HG01361.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02109.hp1 HG02129.hp2 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18941.hp2 NA18961.hp2 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0014	a0001c0014 a0002c0002 a0004c0004 others(3): Show a0001c0014 a0002c0002 a0004c0004 a0007c0010 a0007c0011 a0014c0024	a0001c0014t0003 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0014t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0007c0010t0005 a0007c0011t0001 a0007c0011t0003 a0014c0024t0006	a0001c0014t0003g0335 a0002c0002t0001g0003 a0002c0002t0001g0063 others(20): Show a0001c0014t0003g0335 a0002c0002t0001g0003 a0002c0002t0001g0063 a0002c0002t0001g0133 a0002c0002t0001g0188 a0002c0002t0001g0214 a0002c0002t0001g0235 a0002c0002t0002g0288 a0002c0002t0003g0091 a0004c0004t0001g0089 a0004c0004t0001g0215 a0004c0004t0001g0219 a0004c0004t0001g0282 a0004c0004t0001g0301 a0004c0004t0002g0043 a0004c0004t0002g0331 a0004c0004t0003g0159 a0007c0010t0005g0081 a0007c0010t0005g0144 a0007c0010t0005g0332 a0007c0011t0001g0065 a0007c0011t0003g0272 a0014c0024t0006g0236	23	366	0.0628	-22	c.683 others(37): Show c.683-929_683-908delGTGTGTGTGTGTGTGTGTGTAT	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM1_chr1_63588411_63665245	63633902	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	366	0.0027	-22	c.683 others(37): Show c.683-925_683-904delGTGTGTGTGTGTGTGTATATAT	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM1_chr1_63588411_63665245	63647256	TTACATAT others(15): Show TTACATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02622.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02622.hp2 HG03098.hp1 HG03130.hp2	a0008 a0010 a0008 a0010	a0008c0009 a0010c0015 a0010c0022 a0008c0009 a0010c0015 a0010c0022	a0008c0009t0001 a0010c0015t0008 a0010c0022t0001 a0008c0009t0001 a0010c0015t0008 a0010c0022t0001	a0008c0009t0001g0146 a0008c0009t0001g0164 a0008c0009t0001g0318 others(2): Show a0008c0009t0001g0146 a0008c0009t0001g0164 a0008c0009t0001g0318 a0010c0015t0008g0177 a0010c0022t0001g0078	5	366	0.0137	-22	c.114 others(41): Show c.1145-1258_1145-1237delCATATATATATATATATATATA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM1_chr1_63588411_63665245	63647259	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0065 a0007c0011t0001g0065	1	366	0.0027	-22	c.114 others(41): Show c.1145-1230_1145-1209delTATATATATATATATATATATA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM5_chr9_68351611_68536061	68357912	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0229 a0001c0003t0009g0230 a0001c0003t0009g0229 a0001c0003t0009g0230	2	246	0.0081	-22	c.261 others(37): Show c.261+555_261+576delACACACACACACACACACACAC	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGM5_chr9_68351611_68536061	68406660	GTATATAT others(15): Show GTATATATATATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA20129.hp2 NA18980.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0144 a0001c0004t0005g0241 a0001c0001t0001g0144 a0001c0004t0005g0241	2	246	0.0081	-22	c.104 others(43): Show c.1043+14205_1043+14226delGTATATATATATATATATATAT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGM5_chr9_68351611_68536061	68434316	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG02109.hp1 others(17): Show HG00323.hp2 HG01175.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA19043.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0008 a0003c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0003t0015 a0001c0004t0027 a0001c0004t0028 a0001c0005t0016 a0002c0008t0029 a0002c0008t0030 a0003c0019t0005	a0001c0001t0002g0070 a0001c0001t0004g0104 a0001c0001t0004g0105 others(17): Show a0001c0001t0002g0070 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0124 a0001c0001t0005g0008 a0001c0001t0007g0233 a0001c0001t0009g0119 a0001c0001t0016g0092 a0001c0001t0017g0106 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0003t0015g0020 a0001c0004t0027g0240 a0001c0004t0028g0236 a0001c0005t0016g0087 a0001c0005t0016g0088 a0002c0008t0029g0234 a0002c0008t0030g0235 a0003c0019t0005g0237	20	246	0.0813	-22	c.104 others(43): Show c.1044-30775_1044-30754delAAAAAAAAAAAAAAAAAAAAAA	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1L_chr15_98963229_99012792	98979633	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp1 HG01884.hp2 others(10): Show HG01099.hp2 HG01261.hp1 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0031 a0001c0008t0005	a0001c0001t0001g0190 a0001c0001t0007g0345 a0001c0001t0009g0332 others(10): Show a0001c0001t0001g0190 a0001c0001t0007g0345 a0001c0001t0009g0332 a0001c0001t0009g0333 a0001c0001t0009g0334 a0001c0001t0009g0335 a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0011g0353 a0001c0001t0011g0367 a0001c0001t0012g0373 a0001c0001t0031g0255 a0001c0008t0005g0390	13	398	0.0327	-22	c.-14 others(41): Show c.-141-8497_-141-8476delAAAAAAAAAAAAAAAAAAAAAA	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	2/4			chr15	TogoVar
PGPEP1L_chr15_98963229_99012792	98982700	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02896.hp1 others(2): Show HG01243.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0343 others(2): Show a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0001t0007g0346 a0001c0001t0007g0347	5	398	0.0126	-22	c.-14 others(43): Show c.-141-11564_-141-11543delAAAAAAAAAAAAAAAAAAAAAA	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	2/4			chr15	TogoVar
PGPEP1_chr19_18335598_18374950	18364937	TGGCGCGG others(15): Show TGGCGCGGGGGGCTCAAAACGGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(34): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG02055.hp2 HG02300.hp1 HG03017.hp1 HG03239.hp2 HG03942.hp2 HG04184.hp2 NA18943.hp1 NA18950.hp1 NA18985.hp1 NA18997.hp2 NA18998.hp1 NA19063.hp1 NA19081.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0039 a0001c0001t0040 others(28): Show a0001c0001t0016 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0082 a0001c0001t0109 a0001c0001t0119 a0001c0001t0122 a0001c0001t0150 a0001c0001t0165 a0001c0001t0166 a0001c0001t0181 a0001c0001t0184 a0001c0001t0185 a0001c0001t0205 a0001c0001t0214 a0001c0001t0215 a0001c0001t0225 a0001c0001t0226 a0001c0001t0236 a0001c0001t0237 a0001c0001t0247 a0001c0001t0252 a0001c0001t0259 a0001c0001t0262 a0001c0001t0263 a0001c0001t0288 a0001c0001t0295 a0001c0001t0297 a0001c0001t0302	a0001c0001t0016g0011 a0001c0001t0016g0036 a0001c0001t0016g0039 others(34): Show a0001c0001t0016g0011 a0001c0001t0016g0036 a0001c0001t0016g0039 a0001c0001t0039g0013 a0001c0001t0039g0115 a0001c0001t0040g0105 a0001c0001t0040g0194 a0001c0001t0044g0154 a0001c0001t0044g0263 a0001c0001t0045g0015 a0001c0001t0045g0127 a0001c0001t0082g0262 a0001c0001t0109g0217 a0001c0001t0119g0197 a0001c0001t0122g0200 a0001c0001t0150g0011 a0001c0001t0165g0035 a0001c0001t0166g0013 a0001c0001t0181g0136 a0001c0001t0184g0186 a0001c0001t0185g0079 a0001c0001t0205g0063 a0001c0001t0214g0003 a0001c0001t0215g0303 a0001c0001t0225g0005 a0001c0001t0226g0128 a0001c0001t0236g0131 a0001c0001t0237g0130 a0001c0001t0247g0280 a0001c0001t0252g0044 a0001c0001t0259g0043 a0001c0001t0262g0040 a0001c0001t0263g0015 a0001c0001t0288g0001 a0001c0001t0295g0337 a0001c0001t0297g0001 a0001c0001t0302g0001	37	412	0.0898	-22	c.13 others(33): Show c.1365_*1386delGCTCAAAACGGGGGCGCGGGGG	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	1365	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGR_chr11_101024624_101134813	101046292	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01074.hp1 others(14): Show HG00099.hp1 HG00423.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02145.hp2 HG02738.hp1 HG03490.hp2	a0002 a0007 a0008 others(1): Show a0002 a0007 a0008 a0010	a0002c0004 a0002c0016 a0007c0023 others(2): Show a0002c0004 a0002c0016 a0007c0023 a0008c0021 a0010c0013	a0002c0004t0005 a0002c0004t0015 a0002c0004t0020 others(8): Show a0002c0004t0005 a0002c0004t0015 a0002c0004t0020 a0002c0004t0021 a0002c0004t0043 a0002c0004t0044 a0002c0004t0045 a0002c0016t0005 a0007c0023t0005 a0008c0021t0005 a0010c0013t0015	a0002c0004t0005g0025 a0002c0004t0005g0026 a0002c0004t0005g0031 others(14): Show a0002c0004t0005g0025 a0002c0004t0005g0026 a0002c0004t0005g0031 a0002c0004t0005g0033 a0002c0004t0015g0021 a0002c0004t0015g0022 a0002c0004t0020g0024 a0002c0004t0020g0029 a0002c0004t0021g0036 a0002c0004t0021g0037 a0002c0004t0043g0032 a0002c0004t0044g0028 a0002c0004t0045g0035 a0002c0016t0005g0030 a0007c0023t0005g0209 a0008c0021t0005g0205 a0010c0013t0015g0020	17	254	0.0669	-22	c.248 others(41): Show c.2488+3615_2488+3636delAAAAAAAAAAAAAAAAAAAAAA	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	6/7			chr11	TogoVar
PGR_chr11_101024624_101134813	101084606	TGAGATTG others(15): Show TGAGATTGCGCCACTGCACTCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(36): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG01993.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02698.hp1 HG02886.hp1 HG03239.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0003 a0004c0017 a0009c0022 a0001c0003 a0004c0017 a0009c0022	a0001c0003t0002 a0001c0003t0003 a0001c0003t0028 others(11): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0028 a0001c0003t0061 a0001c0003t0067 a0001c0003t0068 a0001c0003t0069 a0001c0003t0070 a0001c0003t0071 a0001c0003t0080 a0001c0003t0081 a0001c0003t0083 a0004c0017t0002 a0009c0022t0002	a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0003t0002g0174 others(36): Show a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0184 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0202 a0001c0003t0002g0207 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0028g0185 a0001c0003t0028g0194 a0001c0003t0061g0171 a0001c0003t0067g0182 a0001c0003t0068g0190 a0001c0003t0069g0172 a0001c0003t0070g0201 a0001c0003t0071g0191 a0001c0003t0080g0183 a0001c0003t0081g0192 a0001c0003t0083g0211 a0004c0017t0002g0038 a0009c0022t0002g0208	39	254	0.1535	-22	c.190 others(41): Show c.1906+7132_1906+7153delTGGAGTGCAGTGGCGCAATCTC	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	3/7			chr11	TogoVar
PHACTR1_chr6_12711767_13292837	12768809	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02965.hp1 HG03139.hp2 others(1): Show HG01192.hp2 HG02965.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0002g0056 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0002g0056 a0001c0001t0005g0064	4	108	0.0370	-22	c.250 others(41): Show c.250+19051_250+19072delCACACACACACACACACACACA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13064596	ATATATAT others(15): Show ATATATATATCTATATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 NA20129.hp1 HG02055.hp1 HG02723.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0058	3	108	0.0278	-22	c.415 others(41): Show c.415+11071_415+11092delATATATCTATATATCTATCTAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13231039	GAGAGAAA others(15): Show GAGAGAAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01255.hp1 others(14): Show HG00735.hp1 HG01175.hp1 HG01255.hp1 HG01993.hp1 HG02280.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA18946.hp1 NA18955.hp2 NA18983.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0003g0008 a0001c0001t0003g0023 a0001c0001t0003g0042 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0092 a0001c0002t0002g0026	17	108	0.1574	-22	c.139 others(39): Show c.1391+849_1391+870delAGAAAGGAAGGAAGGAAGGAAG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13284535	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	108	0.0093	-22	c.165 others(39): Show c.1650+975_1650+996delAAAAAAAATATATATATATATA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771152	ATATATGT others(15): Show ATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 NA19030.hp1 HG02145.hp2 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0041 a0001c0001t0095 a0001c0018t0027 a0001c0001t0041 a0001c0001t0095 a0001c0018t0027	a0001c0001t0041g0309 a0001c0001t0095g0016 a0001c0018t0027g0304 a0001c0001t0041g0309 a0001c0001t0095g0016 a0001c0018t0027g0304	3	310	0.0097	-22	c.123 others(41): Show c.1233-1100_1233-1079delGTATATATATATATATGTATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771158	GTATATAT others(15): Show GTATATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0258 a0002c0002t0041g0258	1	310	0.0032	-22	c.123 others(41): Show c.1233-1090_1233-1069delATATATGTATATATATATATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771170	ATATGTAT others(15): Show ATATGTATATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0007 a0002c0016t0007	a0002c0016t0007g0132 a0002c0016t0007g0132	1	310	0.0032	-22	c.123 others(41): Show c.1233-1086_1233-1065delATGTATATATATATATATGTGT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143827155	AATATATA others(15): Show AATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02135.hp2 HG02818.hp1 HG02083.hp1 HG02135.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0123 a0001c0012t0124 a0002c0002t0125 a0001c0001t0123 a0001c0012t0124 a0002c0002t0125	a0001c0001t0123g0135 a0001c0012t0124g0232 a0002c0002t0125g0239 a0001c0001t0123g0135 a0001c0012t0124g0232 a0002c0002t0125g0239	3	310	0.0097	-22	c.34 others(33): Show c.3489_*3510delATATATATATATATATATATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	13/13	3489	INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59716206	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	250	0.0040	-22	c.119 others(41): Show c.119-26865_119-26844delGTGTGTGTGTGTGTGTGTGTGT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR4_chr1_28364740_28505364	28366054	TATACAAC others(15): Show TATACAACCTTGAAACCATAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0119 a0001c0003t0004g0119	1	228	0.0044	-22	c.-38 others(33): Show c.-3809_-3788delATACAACCTTGAAACCATAACC	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding		3685		chr1	TogoVar

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