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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
EBLN2_chr3_73056659_73068337	73066239	C C	CATATATA others(7): Show CATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01952.hp2 HG03704.hp2 others(1): Show HG01109.hp1 HG01952.hp2 HG03704.hp2 NA18964.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0000 a0003c0003t0002g0000 a0002c0002t0002g0000 a0003c0003t0002g0000	4	428	0.0094	14	c.33 others(25): Show c.3339_*3340insATATATATATATAT	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding		2903		chr3	TogoVar
EBNA1BP2_chr1_43159184_43177290	43163613	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(17): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01516.hp1 HG01943.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0004 a0002c0002t0002g0029 a0002c0002t0002g0052 others(1): Show a0002c0002t0002g0004 a0002c0002t0002g0029 a0002c0002t0002g0052 a0002c0002t0004g0013	20	392	0.0510	14	c.82 others(23): Show c.829_*830insTTTTTTTTTTTTTT	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		570		chr1	TogoVar
EBPL_chr13_49655674_49696486	49673962	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01433.hp2 others(10): Show HG01099.hp2 HG01167.hp1 HG01433.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG04204.hp1 HG06807.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0153 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0199 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0295	13	410	0.0317	14	c.172 others(31): Show c.172-4130_172-4117dupGTGTGTGTGTGTGT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
EBPL_chr13_49655674_49696486	49679006	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	410	0.0024	14	c.172 others(31): Show c.172-9161_172-9160insTTTTTTTTTTTTTT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
ECE1_chr1_21212250_21295463	21273346	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0180 a0001c0003t0002g0180	1	304	0.0033	14	c.281 others(29): Show c.281-449_281-436dupACACACACACACAC	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	3/18			chr1	TogoVar
ECH1_chr19_38810422_38836794	38818931	G G	GCGCGCGC others(7): Show GCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	420	0.0024	14	c.350 others(31): Show c.350-1357_350-1356insTGCGCGCGCGCGCG	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECH1_chr19_38810422_38836794	38818932	T T	TGCGCGCG others(7): Show TGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01071.hp2 others(6): Show HG00099.hp2 HG01070.hp1 HG01071.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02735.hp2 HG02738.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0024 a0001c0003t0001g0173 a0001c0003t0001g0177 others(4): Show a0001c0003t0001g0024 a0001c0003t0001g0173 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0184 a0001c0003t0003g0064 a0001c0003t0003g0065	9	420	0.0214	14	c.350 others(31): Show c.350-1358_350-1357insGTGCGCGCGCGCGC	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECHDC1_chr6_127283712_127348609	127307648	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03239.hp1 HG03516.hp1 others(2): Show HG01891.hp2 HG03239.hp1 HG03516.hp1 NA19000.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0193 a0001c0001t0003g0115	5	358	0.0140	14	c.497 others(31): Show c.497+7154_497+7167dupTTTTTTTTTTTTTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECM1_chr1_150503109_150518789	150503585	A A	ATATATGT others(7): Show ATATATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	14	c.-46 others(25): Show c.-4625_-4624insTATATGTGTGTGTG	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		4523		chr1	TogoVar
ECM1_chr1_150503109_150518789	150506484	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0031 a0003c0004t0002g0031	1	420	0.0024	14	c.-17 others(25): Show c.-1726_-1725insCACACACACACACA	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		1624		chr1	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp2 HG03927.hp2 others(3): Show HG01243.hp1 HG02886.hp2 HG03927.hp2 HG04115.hp1 NA18968.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0003c0004 a0001c0002 a0001c0006 a0003c0004	a0001c0002t0002 a0001c0006t0001 a0003c0004t0002 a0001c0002t0002 a0001c0006t0001 a0003c0004t0002	a0001c0002t0002g0108 a0001c0002t0002g0166 a0001c0002t0002g0174 others(3): Show a0001c0002t0002g0108 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0006t0001g0066 a0003c0004t0002g0042	6	400	0.0150	14	c.-28 others(31): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533312	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0192 a0001c0005t0001g0192	1	400	0.0025	14	c.-28 others(31): Show c.-28+2620_-28+2621insATATATATATATAT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533314	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0193 a0001c0005t0001g0193	1	400	0.0025	14	c.-28 others(31): Show c.-28+2618_-28+2619insATATATATATATAT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	400	0.0025	14	c.-28 others(31): Show c.-28+2604_-28+2605insATATATATTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18972.hp1 NA18981.hp2 others(1): Show HG02129.hp1 NA18972.hp1 NA18981.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0031 a0001c0001t0001g0269 a0001c0001t0001g0270	4	400	0.0100	14	c.-28 others(31): Show c.-28+2604_-28+2605insATATATATATTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	400	0.0025	14	c.-28 others(31): Show c.-28+2604_-28+2605insATATATATATATTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	354	0.0028	14	c.265 others(33): Show c.2652+1154_2652+1167dupTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111470746	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02615.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02615.hp1 HG02615.hp2 HG03239.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0245 a0002c0002t0001g0136 a0002c0002t0001g0137 others(3): Show a0001c0001t0001g0245 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0143	6	354	0.0170	14	c.22+ others(29): Show c.22+2137_22+2150dupTGTGTGTGTGTGTG	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 NA19240.hp2 HG02280.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0211 a0001c0002t0001g0091 a0001c0002t0001g0103 a0001c0001t0001g0211 a0001c0002t0001g0091 a0001c0002t0001g0103	3	434	0.0069	14	c.80- others(27): Show c.80-505_80-492dupAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	369	0.0027	14	c.24 others(25): Show c.2408_*2409insGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446495	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 homoSapiens_chm13v2.hp1 HG02109.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	369	0.0054	14	c.24 others(25): Show c.2404_*2405insGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2064		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446499	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02602.hp1 HG02083.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0079 a0001c0001t0001g0005 a0001c0001t0002g0079	2	369	0.0054	14	c.24 others(25): Show c.2400_*2401insGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2060		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139458500	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01358.hp1 HG02148.hp2 others(4): Show HG01071.hp2 HG01358.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0138 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0153	7	369	0.0190	14	c.62- others(27): Show c.62-331_62-318dupTTTTTTTTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECSCR_chr5_139443560_139467743	139458500	C C	CAACAAAA others(7): Show CAACAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	369	0.0027	14	c.62- others(27): Show c.62-318_62-317insTTTTTTTTTTTGTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECSCR_chr5_139443560_139467743	139458500	C C	CAACAACA others(7): Show CAACAACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	369	0.0027	14	c.62- others(27): Show c.62-318_62-317insTTTTTTTTGTTGTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp2 HG02451.hp2 others(22): Show HG01109.hp2 HG01952.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 others(21): Show a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0006t0001g0105	25	312	0.0801	14	c.739 others(29): Show c.739-349_739-336dupAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138795927	A A	AGGGCGGT others(7): Show AGGGCGGTGGCTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0211 a0001c0001t0016g0212 a0001c0001t0016g0211 a0001c0001t0016g0212	2	326	0.0061	14	c.-50 others(23): Show c.-509_-508insGGGCGGTGGCTCGC	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		159		chr6	TogoVar
ECT2L_chr6_138791087_138909070	138804582	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0010	a0007c0010t0010g0210 a0007c0010t0010g0210	1	326	0.0031	14	c.-24 others(33): Show c.-243-8240_-243-8227dupCACACACACACACA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873872	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0147 a0002c0002t0004g0147	1	326	0.0031	14	c.157 others(33): Show c.1579-2570_1579-2557dupGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873890	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19004.hp1 NA18906.hp2 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0304 a0001c0003t0003g0245 a0001c0003t0002g0304 a0001c0003t0003g0245	2	326	0.0061	14	c.157 others(33): Show c.1579-2569_1579-2568insATGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873892	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 HG02976.hp2 others(1): Show HG01081.hp1 HG02615.hp1 HG02976.hp2 HG03130.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0009c0025 a0001c0001 a0009c0012 a0009c0025	a0001c0001t0010 a0009c0012t0018 a0009c0025t0020 a0001c0001t0010 a0009c0012t0018 a0009c0025t0020	a0001c0001t0010g0319 a0009c0012t0018g0008 a0009c0012t0018g0009 others(1): Show a0001c0001t0010g0319 a0009c0012t0018g0008 a0009c0012t0018g0009 a0009c0025t0020g0004	4	326	0.0123	14	c.157 others(33): Show c.1579-2567_1579-2566insATGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873894	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02451.hp1 others(4): Show HG02145.hp1 HG02257.hp1 HG02451.hp1 NA18942.hp1 NA18962.hp1 NA18998.hp2 NA19009.hp1	a0001 a0002 a0017 others(2): Show a0001 a0002 a0017 a0023 a0024	a0001c0003 a0002c0002 a0017c0035 others(2): Show a0001c0003 a0002c0002 a0017c0035 a0023c0036 a0024c0020	a0001c0003t0002 a0001c0003t0005 a0002c0002t0007 others(3): Show a0001c0003t0002 a0001c0003t0005 a0002c0002t0007 a0017c0035t0003 a0023c0036t0002 a0024c0020t0002	a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0005g0275 others(4): Show a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0005g0275 a0002c0002t0007g0288 a0017c0035t0003g0159 a0023c0036t0002g0305 a0024c0020t0002g0315	7	326	0.0215	14	c.157 others(33): Show c.1579-2565_1579-2564insATGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138878306	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0300 a0005c0007t0001g0300	1	326	0.0031	14	c.166 others(33): Show c.1665+1749_1665+1750insTACACACACACACA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172758468	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02486.hp2 HG02572.hp2 others(13): Show HG01255.hp1 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0004 a0001c0006t0004 a0004c0005t0004 a0001c0001t0004 a0001c0006t0004 a0004c0005t0004	a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0249 others(12): Show a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0006t0004g0251 a0004c0005t0004g0256 a0004c0005t0004g0257	16	318	0.0503	14	c.487 others(29): Show c.487-508_487-495dupCACACACACACACA	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
ECT2_chr3_172745726_172826474	172797018	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG01255.hp1 others(14): Show HG00280.hp2 HG00408.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01516.hp2 HG02559.hp2 HG02738.hp1 HG03041.hp1 HG03225.hp2 HG03654.hp2 NA18955.hp1 NA18957.hp2 NA18998.hp2 NA19007.hp1 NA19030.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0006t0004	a0001c0001t0001g0093 a0001c0001t0002g0028 a0001c0001t0002g0134 others(13): Show a0001c0001t0001g0093 a0001c0001t0002g0028 a0001c0001t0002g0134 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0003g0215 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0005g0198 a0001c0001t0006g0178 a0001c0006t0004g0251	17	318	0.0535	14	c.190 others(33): Show c.1908-5576_1908-5563dupGTGTGTGTGTGTGT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDA2R_chrX_66590637_66644078	66594236	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 NA18985.hp1 NA20805.hp1 HG01074.hp1 NA18985.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0103 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0103	3	222	0.0135	14	c.38 others(25): Show c.3867_*3868insACACACACACACAC	EDA2R	ENSG00000131080.15	transcript	ENST00000374719.8	protein_coding		1400		chrX	TogoVar
EDARADD_chr1_236389286_236489930	236390941	G G	GTTATTTA others(7): Show GTTATTTATTATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	294	0.0034	14	c.-35 others(25): Show c.-3504_-3503insTTATTTATTATTAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		3344		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236393391	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02109.hp1 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0273 a0002c0002t0001g0245 a0002c0002t0001g0273	2	294	0.0068	14	c.-10 others(25): Show c.-1054_-1053insTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		894		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405925	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02273.hp1 others(3): Show HG02015.hp2 HG02145.hp2 HG02273.hp1 HG03516.hp1 NA19060.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007	a0001c0001t0001g0050 a0001c0001t0001g0125 a0001c0001t0003g0052 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0125 a0001c0001t0003g0052 a0002c0002t0001g0279 a0002c0002t0006g0280 a0002c0002t0007g0281	6	294	0.0204	14	c.62- others(29): Show c.62-3290_62-3289insTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236431927	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02451.hp2 HG02015.hp2 HG02451.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0028 a0001c0001t0001 a0002c0002t0028	a0001c0001t0001g0125 a0002c0002t0028g0275 a0001c0001t0001g0125 a0002c0002t0028g0275	2	294	0.0068	14	c.219 others(31): Show c.219+4489_219+4502dupAAAAAAAAAAAAAA	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236445237	T T	TTTTTTTT others(7): Show TTTTTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02622.hp1 others(1): Show HG01884.hp1 HG02145.hp2 HG02622.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0225 a0002c0002t0006g0227 a0002c0002t0006g0228 others(1): Show a0002c0002t0006g0225 a0002c0002t0006g0227 a0002c0002t0006g0228 a0002c0002t0006g0280	4	294	0.0136	14	c.219 others(33): Show c.219+17795_219+17796insTTGTTGTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236466438	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	294	0.0034	14	c.220 others(31): Show c.220-1792_220-1791insCACACACACACACA	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236480096	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp2 HG02080.hp1 others(2): Show HG00438.hp1 HG01109.hp2 HG02080.hp1 HG02155.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0004t0005 a0001c0005t0005 others(1): Show a0001c0001t0001 a0001c0004t0005 a0001c0005t0005 a0002c0002t0014	a0001c0001t0001g0099 a0001c0004t0005g0196 a0001c0005t0005g0033 others(2): Show a0001c0001t0001g0099 a0001c0004t0005g0196 a0001c0005t0005g0033 a0001c0005t0005g0041 a0002c0002t0014g0246	5	294	0.0170	14	c.266 others(31): Show c.266-2144_266-2131dupATATATATATATAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236480133	A A	ATATATCT others(7): Show ATATATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0293 a0001c0001t0016g0293	1	294	0.0034	14	c.266 others(31): Show c.266-2131_266-2130insATCTATCTATCTAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDAR_chr2_108889471_108994220	108932528	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	226	0.0044	14	c.-18 others(31): Show c.-18-1510_-18-1497dupTTTTTTTTTTTTTT	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
EDA_chrX_69611113_70044472	69645618	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(58): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01123.hp2 HG01256.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02602.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(58): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0185 a0001c0001t0017g0054 a0001c0001t0021g0099 a0001c0001t0022g0100	61	226	0.2699	14	c.396 others(33): Show c.396+28917_396+28918insATATATATATATGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01358.hp1 others(2): Show HG01192.hp1 HG01243.hp1 HG01358.hp1 HG02559.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0001g0103 a0001c0001t0001g0197 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0103 a0001c0001t0001g0197 a0001c0001t0002g0050 a0001c0001t0003g0041	5	226	0.0221	14	c.396 others(33): Show c.396+39070_396+39083dupATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69851157	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	226	0.0044	14	c.397 others(35): Show c.397-105857_397-105844dupTGTGTGTGTGTGTG	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69856254	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	226	0.0044	14	c.397 others(35): Show c.397-100742_397-100729dupGTGTGTGTGTGTGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(7): Show GATAGATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	226	0.0044	14	c.397 others(33): Show c.397-68050_397-68049insATAGATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar

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