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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(15): Show TGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	392	0.0051	22	c.-28 others(33): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20108945	C C	CCAACCTG others(15): Show CCAACCTGCACATCCTCAGCAAG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0008 a0007c0010t0008	a0007c0010t0008g0004 a0007c0010t0008g0004	1	419	0.0024	22	c.218 others(31): Show c.2182_2203dupAACCTGCACATCCTCAGCAAGC	p.Leu others(5): Show p.Leu735fs	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	13/14	2624/4506	2204/2322	735/773		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14177554	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA20300.hp2 HG02135.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0001 a0001c0001t0002 a0001c0016t0001	a0001c0001t0002g0143 a0001c0016t0001g0039 a0001c0001t0002g0143 a0001c0016t0001g0039	2	148	0.0135	22	c.224 others(39): Show c.2243+455_2243+476dupTTTTTTTTTTTTTTTTTTTTTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	24/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211511	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02818.hp1 HG03195.hp1 others(1): Show HG01978.hp2 HG02818.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0003 a0001c0003t0004 a0001c0004t0001 a0001c0002t0003 a0001c0003t0004 a0001c0004t0001	a0001c0002t0003g0081 a0001c0003t0004g0009 a0001c0003t0004g0083 others(1): Show a0001c0002t0003g0081 a0001c0003t0004g0009 a0001c0003t0004g0083 a0001c0004t0001g0103	4	148	0.0270	22	c.212 others(43): Show c.2123-33361_2123-33360insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211683	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0144 a0001c0006t0019g0144	1	148	0.0068	22	c.212 others(43): Show c.2123-33533_2123-33532insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211812	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	148	0.0068	22	c.212 others(43): Show c.2123-33662_2123-33661insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211812	T T	TTTTACTC others(15): Show TTTTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	148	0.0068	22	c.212 others(43): Show c.2123-33662_2123-33661insTATCACAAAACACGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211875	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0066 a0001c0003t0013g0066	1	148	0.0068	22	c.212 others(43): Show c.2123-33725_2123-33724insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14212069	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	148	0.0068	22	c.212 others(43): Show c.2123-33919_2123-33918insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14212111	T T	TTTTACTC others(15): Show TTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0071	1	148	0.0068	22	c.212 others(43): Show c.2123-33961_2123-33960insTATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14231127	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	148	0.0068	22	c.212 others(43): Show c.2123-52977_2123-52976insAAGAAAGAAAGAAAGAAAGAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14304087	A A	ACACACAC others(15): Show ACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 NA18988.hp2 HG03139.hp1 HG03540.hp1 NA18988.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0005 a0001c0004t0004 a0001c0003t0001 a0001c0003t0005 a0001c0004t0004	a0001c0003t0001g0054 a0001c0003t0005g0057 a0001c0004t0004g0113 a0001c0003t0001g0054 a0001c0003t0005g0057 a0001c0004t0004g0113	3	148	0.0203	22	c.212 others(43): Show c.2122+34427_2122+34428insAGAGAGTGTGTGTGTGTGTGTG		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTGTT others(15): Show GTTTTGTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG02630.hp1 others(6): Show HG01255.hp2 HG02486.hp1 HG02630.hp1 HG02723.hp2 HG02818.hp1 HG02897.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0001c0013	a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0038 a0001c0003t0008 a0001c0003t0035 a0001c0006t0004 a0001c0013t0017	a0001c0002t0001g0017 a0001c0002t0003g0069 a0001c0002t0003g0081 others(6): Show a0001c0002t0001g0017 a0001c0002t0003g0069 a0001c0002t0003g0081 a0001c0002t0013g0104 a0001c0002t0038g0093 a0001c0003t0008g0011 a0001c0003t0035g0126 a0001c0006t0004g0145 a0001c0013t0017g0084	9	148	0.0608	22	c.183 others(43): Show c.1836-47605_1836-47604insAAAAAAAAAAAAAACAACAAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTGT others(15): Show GTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00609.hp1 others(21): Show HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG01167.hp1 HG01515.hp1 HG01978.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp1 HG02523.hp1 HG02970.hp2 HG03471.hp2 HG04115.hp1 HG04204.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18993.hp1 NA19062.hp2 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0020 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0003t0002 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0006t0019 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0002g0036 others(21): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0119 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0020g0097 a0001c0001t0039g0022 a0001c0002t0002g0107 a0001c0002t0003g0010 a0001c0002t0012g0046 a0001c0003t0002g0028 a0001c0003t0002g0063 a0001c0003t0015g0086 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0002g0112 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0006t0019g0144 a0002c0007t0006g0041 a0004c0011t0002g0110	24	148	0.1622	22	c.183 others(43): Show c.1836-47605_1836-47604insAAAAAAAAAAAAAAAACAAAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTTT others(15): Show GTTTTTTTGTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	148	0.0068	22	c.183 others(43): Show c.1836-47605_1836-47604insAAAAAAAACAAAAACAAAAAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTTT others(15): Show GTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02735.hp1 others(6): Show HG00597.hp1 HG00597.hp2 HG02735.hp1 HG04204.hp1 NA18612.hp1 NA19002.hp1 NA19002.hp2 NA19057.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001 a0002c0005t0006 a0002c0007t0006	a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0002g0048 a0001c0001t0002g0106 a0001c0002t0002g0074 a0001c0004t0001g0032 a0002c0005t0006g0139 a0002c0007t0006g0030	9	148	0.0608	22	c.183 others(43): Show c.1836-47605_1836-47604insAAAAAAAAAAAAAACAAAAAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14656751	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0122 a0001c0001t0023g0122	1	148	0.0068	22	c.113 others(43): Show c.1134+16177_1134+16178insGTGTGTGTGTGTGTGTGTGTGT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	13/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14689199	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0056 a0001c0003t0003g0056	1	148	0.0068	22	c.712 others(39): Show c.712-3859_712-3838dupAAAAAAAAAAAAAAAAAAAAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	9/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14747775	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01169.hp2 others(9): Show HG00639.hp1 HG01074.hp2 HG01169.hp2 HG02258.hp1 HG02622.hp2 HG02886.hp1 HG03041.hp1 HG03579.hp1 NA18984.hp1 NA19043.hp1 NA19062.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0016	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0040 a0001c0002t0042 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0002 a0001c0016t0001	a0001c0002t0001g0033 a0001c0002t0001g0096 a0001c0002t0002g0128 others(9): Show a0001c0002t0001g0033 a0001c0002t0001g0096 a0001c0002t0002g0128 a0001c0002t0003g0003 a0001c0002t0040g0068 a0001c0002t0042g0148 a0001c0003t0001g0136 a0001c0003t0003g0094 a0001c0003t0005g0016 a0001c0003t0005g0130 a0001c0004t0002g0131 a0001c0016t0001g0039	12	148	0.0811	22	c.168 others(39): Show c.168+6152_168+6153insTGTGTGTGTGCGCGCGCGCGCG		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14747775	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0011 a0001c0003t0008g0011	1	148	0.0068	22	c.168 others(39): Show c.168+6152_168+6153insTGTGTGTGCGCGCGCGCGCGCG		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14852487	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18993.hp1 HG03225.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0001t0007 a0001c0002t0003	a0001c0001t0007g0121 a0001c0002t0003g0055 a0001c0001t0007g0121 a0001c0002t0003g0055	2	148	0.0135	22	c.-18 others(43): Show c.-187-11038_-187-11037insTTTTTTTTTTTTTTTTTTTTTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14857258	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG01952.hp2 others(9): Show HG00558.hp2 HG01074.hp2 HG01952.hp2 HG02818.hp1 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18984.hp1 NA19002.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0042 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0002g0048 others(9): Show a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0002g0048 a0001c0001t0002g0106 a0001c0002t0002g0137 a0001c0002t0003g0081 a0001c0002t0004g0088 a0001c0002t0012g0046 a0001c0002t0042g0148 a0001c0003t0001g0136 a0001c0004t0001g0026 a0001c0004t0002g0131	12	148	0.0811	22	c.-18 others(43): Show c.-187-15809_-187-15808insCACACACACACACACACACACA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25						chr7	TogoVar
DGKG_chr3_186142201_186367234	186194803	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp2 HG02965.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0016 a0001c0010t0012 a0001c0003t0016 a0001c0010t0012	a0001c0003t0016g0175 a0001c0010t0012g0053 a0001c0003t0016g0175 a0001c0010t0012g0053	2	234	0.0086	22	c.191 others(41): Show c.1918-6425_1918-6424insTTTTTTTTTTTTTTTTTTTTTT		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	21/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02809.hp1 HG03453.hp1 others(3): Show HG00738.hp2 HG02809.hp1 HG03453.hp1 HG03516.hp2 NA19086.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005	a0001c0002t0008 a0001c0003t0005 a0002c0001t0001 others(3): Show a0001c0002t0008 a0001c0003t0005 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0005t0033	a0001c0002t0008g0199 a0001c0003t0005g0108 a0002c0001t0001g0003 others(3): Show a0001c0002t0008g0199 a0001c0003t0005g0108 a0002c0001t0001g0003 a0002c0001t0002g0031 a0002c0001t0003g0219 a0002c0005t0033g0110	6	234	0.0256	22	c.182 others(43): Show c.1827-11148_1827-11127dupTATATATATATATATATATATA		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186243895	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0089 a0001c0003t0007g0089	1	234	0.0043	22	c.176 others(41): Show c.1762-1328_1762-1327insAAAAAAAAAAAAAAAAAAAAAA		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	19/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186297068	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0187 a0001c0002t0009g0187	1	234	0.0043	22	c.373 others(37): Show c.373+331_373+352dupTGTGTGTGTGTGTGTGTGTGTG		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	5/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186299827	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0034 a0002c0001t0034	a0002c0001t0034g0070 a0002c0001t0034g0070	1	234	0.0043	22	c.145 others(39): Show c.145-1599_145-1598insGAAAGAAAGAAAGAAAGAAAGA		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186358506	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02155.hp2 HG03516.hp1 others(3): Show HG02145.hp2 HG02155.hp2 HG03516.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0010 a0002c0001 others(2): Show a0001c0002 a0001c0010 a0002c0001 a0003c0004 a0004c0017	a0001c0002t0001 a0001c0010t0030 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0010t0030 a0002c0001t0001 a0002c0001t0002 a0003c0004t0004 a0004c0017t0007	a0001c0002t0001g0145 a0001c0010t0030g0149 a0002c0001t0001g0147 others(3): Show a0001c0002t0001g0145 a0001c0010t0030g0149 a0002c0001t0001g0147 a0002c0001t0002g0148 a0003c0004t0004g0146 a0004c0017t0007g0150	6	234	0.0256	22	c.-24 others(41): Show c.-249+3439_-249+3440insCACACACACACACACACACACA		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24						chr3	TogoVar
DGKH_chr13_42043648_42247896	42135507	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02809.hp2 HG03453.hp1 others(2): Show HG02683.hp2 HG02809.hp2 HG03453.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0006t0004 a0001c0006t0017 others(2): Show a0001c0001t0015 a0001c0006t0004 a0001c0006t0017 a0001c0006t0036 a0001c0006t0082	a0001c0001t0015g0166 a0001c0006t0004g0062 a0001c0006t0017g0309 others(2): Show a0001c0001t0015g0166 a0001c0006t0004g0062 a0001c0006t0017g0309 a0001c0006t0036g0048 a0001c0006t0082g0016	5	316	0.0158	22	c.384 others(39): Show c.384+5876_384+5877insAAAAAAAAAAAAAAAAAAAAGA		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42206975	T T	TTTTCTTT others(15): Show TTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp2 HG02809.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0013 a0001c0006 a0001c0013	a0001c0006t0082 a0001c0013t0001 a0001c0006t0082 a0001c0013t0001	a0001c0006t0082g0016 a0001c0013t0001g0231 a0001c0006t0082g0016 a0001c0013t0001g0231	2	316	0.0063	22	c.260 others(39): Show c.2601+836_2601+837insTTCTTTCTTTCTTTCTTTCTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207693	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02738.hp1 HG03710.hp1 others(1): Show HG02074.hp2 HG02738.hp1 HG03710.hp1 NA19054.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0011 a0001c0004t0051 a0001c0010t0004 a0001c0004t0011 a0001c0004t0051 a0001c0010t0004	a0001c0004t0011g0090 a0001c0004t0011g0143 a0001c0004t0051g0239 others(1): Show a0001c0004t0011g0090 a0001c0004t0011g0143 a0001c0004t0051g0239 a0001c0010t0004g0300	4	316	0.0127	22	c.260 others(41): Show c.2602-1265_2602-1264insATATATATATATATATATATAT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137472356	A A	ATATATAC others(15): Show ATATATACATATAATATTTAATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0044 a0001c0016t0044	a0001c0016t0044g0074 a0001c0016t0044g0074	1	94	0.0106	22	c.237 others(41): Show c.2374-2738_2374-2737insCATTAAATATTATATGTATATA		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137472392	T T	TTATTATT others(15): Show TTATTATTATATGTATATATACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG03017.hp2 HG01243.hp1 HG02258.hp1 HG03017.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0022 a0001c0014t0004 a0001c0014t0007 a0001c0008t0022 a0001c0014t0004 a0001c0014t0007	a0001c0008t0022g0026 a0001c0014t0004g0029 a0001c0014t0007g0016 a0001c0008t0022g0026 a0001c0014t0004g0029 a0001c0014t0007g0016	3	94	0.0319	22	c.237 others(41): Show c.2374-2774_2374-2773insTGTATATATACATATAATAATA		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137472396	A A	AATTATTA others(15): Show AATTATTATATGTATATATACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0075 a0001c0013t0003g0075	1	94	0.0106	22	c.237 others(41): Show c.2374-2799_2374-2778dupATGTATATATACATATAATAAT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137846134	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0050 a0001c0001t0007g0051	2	94	0.0213	22	c.401 others(37): Show c.401+306_401+327dupGAGAGAGAGAGAGAGAGAGAGA		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32						chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91217295	T T	TGGGAGAG others(15): Show TGGGAGAGGGCGTGGAAGGTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0161 a0003c0003t0001g0161	1	216	0.0046	22	c.171 others(41): Show c.1716+1746_1716+1767dupGGGCGTGGAAGGTCTGGGGAGA		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
DHCR24_chr1_54844627_54892195	54848142	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA19009.hp1 NA18984.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0012 a0001c0002t0006g0048 a0001c0002t0006g0012 a0001c0002t0006g0048	2	386	0.0052	22	c.40 others(33): Show c.4090_*4091insCACACACACACACACACACACA		DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding					1484		chr1	TogoVar
DHCR7_chr11_71429411_71453393	71444874	C C	CTTTGAGC others(15): Show CTTTGAGCTGGGTGAAGATAGGG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0055 a0009c0029t0001g0055	1	410	0.0024	22	c.78_ others(27): Show c.78_79insCCCTATCTTCACCCAGCTCAAA	p.Gly others(4): Show p.Gly27fs	DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	3/9	313/2627	78/1428	26/475			chr11	TogoVar
DHDH_chr19_48928699_48949969	48930540	T T	TTTTTTAA others(15): Show TTTTTTAAATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0039 a0009c0013t0001g0099 a0009c0013t0001g0039 a0009c0013t0001g0099	2	436	0.0046	22	c.-31 others(33): Show c.-3182_-3181insTTTTTAAATATATATATATATA		DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding					3158		chr19	TogoVar
DHFR_chr5_80621226_80659983	80634704	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG03927.hp1 HG00280.hp1 HG01515.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0006g0173 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0006g0173	3	376	0.0080	22	c.370 others(37): Show c.370-734_370-713dupGTGTGTGTGTGTGTGTGTGTGT		DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5						chr5	TogoVar
DHFR_chr5_80621226_80659983	80637285	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG02293.hp1 others(4): Show HG00735.hp1 HG01099.hp2 HG02293.hp1 HG03540.hp1 NA18992.hp2 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0029 a0001c0001t0004g0091 a0001c0001t0004g0092 others(3): Show a0001c0001t0004g0029 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0007g0079 a0001c0001t0007g0080	7	376	0.0186	22	c.369 others(37): Show c.369+576_369+597dupATATATATATATATATATATAT		DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5						chr5	TogoVar
DHRS12_chr13_51762993_51809163	51774451	G G	GTATTCTC others(15): Show GTATTCTCCTACATGTATTCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG02559.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0321 a0001c0001t0001g0127 a0001c0001t0001g0321	2	420	0.0048	22	c.364 others(37): Show c.364-418_364-417insGGAGAATACATGTAGGAGAATA		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS7B_chr17_21121964_21196420	21138101	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	382	0.0026	22	c.20+ others(39): Show c.20+11111_20+11112insTACACACACACACACACACACA		DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21140538	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	382	0.0026	22	c.20+ others(39): Show c.20+13548_20+13549insACACACACACACACACACACCC		DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02717.hp1 others(7): Show HG02055.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(7): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0372	10	382	0.0262	22	c.21- others(37): Show c.21-7972_21-7971insTTTTTTTTTTTTTTTTTTTTTT		DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21187094	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	382	0.0026	22	c.620 others(39): Show c.620-1598_620-1597insTATATATATATATATATATATA		DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS9_chr2_169064563_169101167	169079938	A A	AGGGAGGG others(15): Show AGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	398	0.0025	22	c.-59 others(39): Show c.-59-1584_-59-1583insGGAGGGAGGGAGGGAGGGAGGG		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	398	0.0025	22	c.-59 others(39): Show c.-59-1537_-59-1536insGAGAGAGAGAGAGAAAGAAAGA		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2298614	A A	ACACACAC others(15): Show ACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0015 a0006c0013t0015	a0006c0013t0015g0011 a0006c0013t0015g0011	1	50	0.0200	22	c.287 others(39): Show c.287-7012_287-7011insCGTGTGTGTGTGTGTGTGTGTG		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01258.hp1 NA18973.hp1 HG00741.hp2 HG01258.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0309 a0001c0001t0002g0275 a0001c0001t0010g0362 a0001c0001t0001g0309 a0001c0001t0002g0275 a0001c0001t0010g0362	3	374	0.0080	22	c.175 others(37): Show c.1756+39_1756+40insTTTTTTTTTTTTTTTTTTTTTT		DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr10	TogoVar

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