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
AP1S3_chr2_223750326_223842582	223780302	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	340	0.0029	-22	c.4-2 others(35): Show c.4-2455_4-2434delCTCTCTCTCTCTCTCTATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223828058	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0323 a0001c0001t0021g0323	1	340	0.0029	-22	c.3+9 others(35): Show c.3+9368_3+9389delTTTTTTTTTTTTTTTTTTTTTT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2B1_chr17_35582322_35731413	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 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0126 a0001c0003t0001g0302 a0001c0001t0001g0126 a0001c0003t0001g0302	2	372	0.0054	-22	c.-43 others(33): Show c.-4336_-4315delTTTTTTTTTTTTTTTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		4206		chr17	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03654.hp1 HG03704.hp1 others(3): Show HG00544.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 NA18966.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0129 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0129 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0282	6	368	0.0163	-22	c.197 others(37): Show c.1971+59_1972-74delGTGTGTGTGTGTGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82690229	TACTTTTT others(15): Show TACTTTTTTTTTTCAATTACTAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01361.hp1 others(2): Show HG00639.hp1 HG00735.hp2 HG01361.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009	5	368	0.0136	-22	c.114 others(37): Show c.114-798_114-777delTTAGTAATTGAAAAAAAAAAGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2129244	CAGGGAAT others(15): Show CAGGGAATGCCCCACACAGGGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp1 HG02083.hp1 others(1): Show HG00438.hp2 HG02071.hp1 HG02083.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 others(1): Show a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336	4	406	0.0099	-22	c.732 others(35): Show c.732+52_732+73delCACCCTGTGTGGGGCATTCCCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	7/31			chr19	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	334	0.0030	-22	c.-4+ others(37): Show c.-4+1466_-4+1487delAAAAAAAAAAAAAAAAAAAAAA	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
AP4E1_chr15_50903683_51010895	50938598	AGTAGGGA others(15): Show AGTAGGGAGTAAAGAGGTAATTT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	392	0.0026	-22	c.944 others(39): Show c.944-2843_944-2822delGTAGGGAGTAAAGAGGTAATTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	8/20			chr15	TogoVar
APAF1_chr12_98640290_98740433	98653679	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0225 a0001c0004t0007g0226 a0001c0004t0007g0225 a0001c0004t0007g0226	2	366	0.0055	-22	c.526 others(39): Show c.526+3997_526+4018delAAAAAAAAAAAATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69523477	GTATATAT others(15): Show GTATATATATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02723.hp1 HG01346.hp1 HG01884.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0019 a0002c0002t0023 a0002c0002t0003 a0002c0002t0019 a0002c0002t0023	a0002c0002t0003g0172 a0002c0002t0019g0033 a0002c0002t0023g0011 a0002c0002t0003g0172 a0002c0002t0019g0033 a0002c0002t0023g0011	3	210	0.0143	-22	c.-69 others(39): Show c.-69-6220_-69-6199delTACATATATATATATATATATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658306	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	210	0.0048	-22	c.-70 others(41): Show c.-70+13825_-70+13846delAAGAAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBB2_chr4_40805027_41219542	41027364	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(45): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02165.hp2 HG02698.hp1 HG02738.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG04204.hp1 NA18747.hp1 NA18944.hp1 NA18951.hp1 NA18955.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0034 a0001c0002t0038 a0001c0002t0043 a0001c0002t0048 a0001c0002t0049 a0001c0004t0003 a0001c0004t0013	a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0070 others(45): Show a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0137 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0002g0061 a0001c0002t0002g0071 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0098 a0001c0002t0002g0104 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0175 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0002t0004g0028 a0001c0002t0004g0108 a0001c0002t0004g0170 a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0002t0010g0006 a0001c0002t0011g0009 a0001c0002t0017g0094 a0001c0002t0017g0095 a0001c0002t0017g0120 a0001c0002t0018g0003 a0001c0002t0018g0005 a0001c0002t0019g0178 a0001c0002t0021g0083 a0001c0002t0022g0031 a0001c0002t0034g0004 a0001c0002t0038g0051 a0001c0002t0043g0169 a0001c0002t0048g0067 a0001c0002t0049g0097 a0001c0004t0003g0103 a0001c0004t0013g0022	48	192	0.2500	-22	c.19+ others(37): Show c.19+5850_19+5871delATATATATATATATATATATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17			chr4	TogoVar
APLP2_chr11_130064894_130149805	130070181	GTGCGGCG others(15): Show GTGCGGCGCCGGGGGTCCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01358.hp1 HG01516.hp2 others(1): Show HG00140.hp2 HG01358.hp1 HG01516.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0004 a0001c0001t0001g0263 a0001c0001t0001g0264	4	274	0.0146	-22	c.105 others(37): Show c.105+107_105+128delCCGGGGGTCCGGCTCTGCGGCG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA1_chr11_116830751_116842622	116831191	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01516.hp1 others(3): Show HG01070.hp1 HG01071.hp1 HG01516.hp1 HG03017.hp1 NA18973.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	6	448	0.0134	-22	c.45 others(33): Show c.4595_*4616delGAAAGAAAGAAAGAAAGAAAGA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4559		chr11	TogoVar
APOA1_chr11_116830751_116842622	116831197	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01257.hp2 others(14): Show HG00280.hp1 HG01109.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG02165.hp1 HG02257.hp2 HG03239.hp1 HG04204.hp1 NA18612.hp2 NA18956.hp1 NA18961.hp2 NA18969.hp1 NA19012.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0004 a0001c0001t0001g0015	17	448	0.0380	-22	c.45 others(33): Show c.4589_*4610delAAGAAAGAAAGAAAGAAAGAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4553		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7659306	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0319 a0001c0002t0002g0319	1	432	0.0023	-22	c.17- others(37): Show c.17-4696_17-4675delATATATTTTTTTTTTTTTTTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7659308	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0387 a0001c0002t0002g0387	1	432	0.0023	-22	c.17- others(37): Show c.17-4698_17-4677delATATATATTTTTTTTTTTTTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7659310	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0369 a0001c0002t0002g0369	1	432	0.0023	-22	c.17- others(37): Show c.17-4700_17-4679delATATATATATTTTTTTTTTTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3H_chr22_39092244_39109067	39100078	CAGGAGAA others(15): Show CAGGAGAATCGCTTGAACTTGGA	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0003 a0013c0013t0003	a0013c0013t0003g0105 a0013c0013t0003g0105	1	418	0.0024	-22	c.-7- others(35): Show c.-7-190_-7-169delAGAATCGCTTGAACTTGGAAGG	APOBEC3H	ENSG00000100298.16	transcript	ENST00000442487.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOC3_chr11_116824907_116838072	116831191	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01167.hp2 others(5): Show HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01516.hp2 HG03017.hp1 NA18973.hp2 NA18997.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0003g0028 a0001c0001t0003g0047 others(1): Show a0001c0001t0001g0042 a0001c0001t0003g0028 a0001c0001t0003g0047 a0001c0001t0003g0054	8	450	0.0178	-22	c.179 others(37): Show c.179+297_179+318delCTTTCTTTCTTTCTTTCTTTCT	APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOC3_chr11_116824907_116838072	116831197	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01257.hp2 others(15): Show HG00280.hp1 HG01109.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG02165.hp1 HG02257.hp2 HG03239.hp1 HG04204.hp1 NA18612.hp1 NA18941.hp1 NA18956.hp1 NA18961.hp2 NA18969.hp2 NA19012.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0067 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0142	18	450	0.0400	-22	c.179 others(37): Show c.179+303_179+324delTTCTTTCTTTCTTTCTTTCTTT	APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOD_chr3_195563705_195588940	195587794	TACACACA others(15): Show TACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG01891.hp1 others(13): Show HG00642.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03831.hp2 NA19002.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0002g0059 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0002g0059 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0201 a0001c0001t0003g0033 a0001c0001t0003g0071 a0001c0001t0003g0202 a0001c0001t0006g0100 a0001c0001t0006g0173 a0001c0001t0008g0019	16	438	0.0365	-22	c.-39 others(33): Show c.-3973_-3952delGTGTGTGTGTGTGTGTGTGTGT	APOD	ENSG00000189058.9	transcript	ENST00000343267.8	protein_coding		3855		chr3	TogoVar
APOL2_chr22_36221209_36244527	36238546	GGTGATTT others(15): Show GGTGATTTTAATAATCCAACAGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	384	0.0026	-22	c.-13 others(39): Show c.-134+873_-134+894delACTGTTGGATTATTAAAATCAC	APOL2	ENSG00000128335.14	transcript	ENST00000358502.10	protein_coding	1/4			chr22	TogoVar
APOO_chrX_23828353_23912938	23829569	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG04199.hp1 HG01993.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0097 a0001c0001t0001g0107	2	269	0.0074	-22	c.40 others(33): Show c.4051_*4072delATATATATATATATATATTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3783		chrX	TogoVar
APPBP2_chr17_60438158_60531242	60518358	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0030 a0002c0002t0025g0030	1	144	0.0069	-22	c.138 others(39): Show c.138+7414_138+7435delACACACACACACACACACACAC	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPL1_chr3_57222729_57278471	57273243	TAATCATG others(15): Show TAATCATGCAGTGTACAATTCAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0164 a0001c0001t0018g0164	1	266	0.0038	-22	c.35 others(33): Show c.3566_*3587delGTGTACAATTCAAAATCATGCA	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	22/22	3566	INFO_REALIGN_3_PRIME	chr3	TogoVar
APTX_chr9_32967616_33006628	32986033	AAAAAAAA others(15): Show AAAAAAAAAACAAAAAAAAAAAC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 NA18972.hp2 HG01074.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0171 a0001c0001t0001g0191	2	388	0.0052	-22	c.484 others(34): Show c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT	APTX	ENSG00000137074.20	transcript	ENST00000379817.7	protein_coding	4/7			chr9	TogoVar
AQP11_chr11_77584953_77615356	77587701	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0062 a0001c0004t0001g0064	2	432	0.0046	-22	c.-22 others(33): Show c.-2291_-2270delAAAAAAAAAAAAAAAAAAAAAA	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding		2251		chr11	TogoVar
AQP7_chr9_33378191_33407568	33405447	CACACACA others(15): Show CACACACACACACACACACACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	438	0.0023	-22	c.-31 others(33): Show c.-3122_-3101delCTGTGTGTGTGTGTGTGTGTGT	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding		2880		chr9	TogoVar
AQP8_chr16_25211947_25233932	25216145	CTTTCTTT others(15): Show CTTTCTTTTTCTTTCTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01099.hp2 others(20): Show HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp1 HG01928.hp2 HG01978.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA19081.hp1 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0026 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0201 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0017 a0002c0002t0002g0108 a0002c0002t0002g0188 a0002c0002t0002g0204 a0002c0002t0003g0005 a0002c0002t0003g0013 a0002c0002t0003g0048 a0003c0005t0001g0003	23	420	0.0548	-22	c.-90 others(31): Show c.-900_-879delTTTCTTTTTCTTTCTTTTTCTT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		801		chr16	TogoVar
ARAP1_chr11_72680069_72757408	72744140	ATGTCACC others(15): Show ATGTCACCATCTGTGACTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG03041.hp2 others(4): Show HG02451.hp2 HG02976.hp2 HG03041.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0298 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0004g0078 a0002c0003t0001g0075 a0002c0003t0001g0079	7	354	0.0198	-22	c.-12 others(41): Show c.-128+8166_-128+8187delCACACAGTCACAGATGGTGACA	ARAP1	ENSG00000186635.16	transcript	ENST00000393609.8	protein_coding	1/34			chr11	TogoVar
AREL1_chr14_74656256_74718080	74712064	AAAAGAAA others(15): Show AAAAGAAAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	374	0.0027	-22	c.-33 others(39): Show c.-334+847_-334+868delCTTTCTTTCTTTTTTTTTCTTT	AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	1/19			chr14	TogoVar
ARF5_chr7_127583411_127596700	127594160	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	2	402	0.0050	-22	c.28 others(33): Show c.2862_*2883delTGTGTGTGTGTGTGTGTGTGTG	ARF5	ENSG00000004059.11	transcript	ENST00000000233.10	protein_coding		2461		chr7	TogoVar
ARGLU1_chr13_106536673_106573137	106537217	ATATATAT others(15): Show ATATATATATACACACATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	376	0.0027	-22	c.67 others(33): Show c.6757_*6778delCGTATATGTGTGTATATATATA	ARGLU1	ENSG00000134884.15	transcript	ENST00000400198.8	protein_coding		4455		chr13	TogoVar
ARHGAP10_chr4_147727088_148077776	147741770	ACACACAC others(15): Show ACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp1 HG02818.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0051 a0004c0010t0001g0048 a0001c0001t0001g0051 a0004c0010t0001g0048	2	106	0.0189	-22	c.154 others(39): Show c.154+9337_154+9358delGCACACACACACACACACACAC	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147834692	ACACCCAC others(15): Show ACACCCACACCCATACACATACC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02922.hp2 others(3): Show HG02258.hp2 HG02451.hp2 HG02922.hp2 HG03130.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0041 a0001c0006t0001g0040 a0001c0006t0001g0042 others(3): Show a0001c0001t0001g0041 a0001c0006t0001g0040 a0001c0006t0001g0042 a0001c0006t0001g0071 a0001c0009t0001g0007 a0001c0011t0001g0092	6	106	0.0566	-22	c.312 others(41): Show c.312+11743_312+11764delACCCATACACATACCCACCCAC	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147912548	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02572.hp2 HG02818.hp1 others(1): Show HG02165.hp2 HG02572.hp2 HG02818.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001	a0001c0001t0003g0087 a0001c0002t0001g0021 a0001c0002t0001g0072 others(1): Show a0001c0001t0003g0087 a0001c0002t0001g0021 a0001c0002t0001g0072 a0001c0004t0001g0105	4	106	0.0377	-22	c.116 others(39): Show c.1163-496_1163-475delTATATATATATATATATATATA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP12_chr10_31800398_31933831	31862696	GCACACAC others(15): Show GCACACACAGACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18954.hp2 NA18967.hp2 NA18952.hp1 NA18954.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0091 a0001c0001t0013g0092 a0001c0001t0013g0093	3	322	0.0093	-22	c.685 others(39): Show c.685-1060_685-1039delTGTGTGTGTGTGTCTGTGTGTG	ARHGAP12	ENSG00000165322.18	transcript	ENST00000344936.7	protein_coding	3/19			chr10	TogoVar
ARHGAP15_chr2_143124419_143773352	143330111	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18962.hp1 NA18955.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0102 a0001c0001t0001g0116	2	162	0.0124	-22	c.474 others(41): Show c.474+79517_474+79538delAAAAAAAAAAAAAAACCAAAAA	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143379487	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	162	0.0062	-22	c.475 others(41): Show c.475-56090_475-56069delGTGTGTGTGTGTGTGTGTGTGT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143421780	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp1 NA21309.hp1 HG02145.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0137 a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0137	3	162	0.0185	-22	c.475 others(41): Show c.475-13819_475-13798delATATATATATATATATATATGT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143606049	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	162	0.0062	-22	c.100 others(43): Show c.1004-18083_1004-18062delAAAAAAAAAAAAAAAAAAAAAG	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	11/13			chr2	TogoVar
ARHGAP17_chr16_24914389_25020369	24982984	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	240	0.0042	-22	c.54- others(37): Show c.54-4001_54-3980delAAAAAAAAAATATATATATATA	ARHGAP17	ENSG00000140750.17	transcript	ENST00000289968.11	protein_coding	1/19			chr16	TogoVar
ARHGAP18_chr6_129571132_129715177	129678412	AACGGATG others(15): Show AACGGATGCCTGGCAAAGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0055 a0007c0008t0004g0055	1	238	0.0042	-22	c.113 others(41): Show c.113+31590_113+31611delCTGCACTTTGCCAGGCATCCGT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	1/14			chr6	TogoVar
ARHGAP19_chr10_97217179_97297637	97218941	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01975.hp2 HG01993.hp2 others(5): Show HG00280.hp2 HG01975.hp2 HG01993.hp2 HG02083.hp2 HG02622.hp2 HG02683.hp2 NA18975.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0179	8	242	0.0331	-22	c.71 others(33): Show c.7159_*7180delTATATATATATATATATATATA	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding		3237		chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97249275	TATTTACT others(15): Show TATTTACTAACCGCAAAGGGGAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	242	0.0041	-22	c.928 others(39): Show c.928-2960_928-2939delTTCCCCTTTGCGGTTAGTAAAT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP20_chr11_110572043_110717437	110584971	GAATATAT others(15): Show GAATATATATGTGAAAATATATA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	226	0.0044	-22	c.141 others(41): Show c.1415+1223_1416-1235delTATATATTTTCACATATATATT	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	12/14			chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24622433	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp2 HG02074.hp2 others(10): Show HG01261.hp2 HG02027.hp2 HG02074.hp2 HG02257.hp2 HG02258.hp2 HG02647.hp2 HG02698.hp2 HG03453.hp1 NA18987.hp1 NA18995.hp1 NA19055.hp1 NA19065.hp2 NA19081.hp2	a0002 a0013 a0019 a0002 a0013 a0019	a0002c0002 a0002c0017 a0013c0027 others(1): Show a0002c0002 a0002c0017 a0013c0027 a0019c0020	a0002c0002t0001 a0002c0017t0001 a0013c0027t0001 others(1): Show a0002c0002t0001 a0002c0017t0001 a0013c0027t0001 a0019c0020t0001	a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0106 others(10): Show a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0106 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0121 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0283 a0002c0017t0001g0041 a0013c0027t0001g0065 a0019c0020t0001g0112	13	352	0.0369	-22	c.525 others(37): Show c.525+278_525+299delATATATATATATATATATATAT	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	8/25			chr10	TogoVar
ARHGAP23_chr17_38423464_38517385	38504978	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0273 a0001c0007t0015g0273	1	309	0.0032	-22	c.344 others(41): Show c.3447+4374_3447+4395delTTTTTTTTTTTTTTTTTTTTTT	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARHGAP24_chr4_85470150_86007666	85564924	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	-22	c.-20 others(39): Show c.-20-5573_-20-5552delTATATATATATATATATATATA	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar

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