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
AP3B1_chr5_77997326_78299698	78134149	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0005 a0001c0004t0002g0003 a0001c0004t0001g0005 a0001c0004t0002g0003	2	226	0.0089	23	c.165 others(42): Show c.1651-4843_1651-4842insTTTTTTTTTTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	15/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19074.hp1 NA18988.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0160 a0001c0002t0002g0154 a0001c0002t0002g0160	2	226	0.0089	23	c.787 others(42): Show c.787-12109_787-12108insAAAAAAAAAAAAATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78279907	A A	AATATATA others(16): Show AATATATATATATGACTTAAATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01346.hp2 HG02004.hp1 others(4): Show HG01256.hp1 HG01346.hp2 HG02004.hp1 HG02698.hp2 HG02735.hp2 HG04228.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 others(4): Show a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0221	7	226	0.0310	23	c.129 others(42): Show c.129-12313_129-12312insATATTTAAGTCATATATATATAT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3D1_chr19_2095988_2156566	2123313	A A	AGCTGGGG others(16): Show AGCTGGGGACACGAAAATGACAGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0009 a0001c0006t0002g0009	1	406	0.0025	23	c.955 others(36): Show c.955+22_955+44dupGCTGTCATTTTCGTGTCCCCAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	11/31			chr19	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0305 a0001c0001t0005g0305	1	392	0.0026	23	c.185 others(42): Show c.1851+4100_1851+4122dupAAAAAAAAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	346	0.0029	23	c.-71 others(42): Show c.-71-16697_-71-16696insAAAAAAATATATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03540.hp1 HG02486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0093 a0001c0001t0019g0007 a0001c0001t0001g0093 a0001c0001t0019g0007	2	346	0.0058	23	c.306 others(40): Show c.306+2916_306+2938dupTTTTTTTTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATTATAT others(16): Show CATTATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	346	0.0029	23	c.36 others(34): Show c.3641_*3642insATTATATATATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02809.hp1 others(2): Show HG02258.hp2 HG02451.hp1 HG02809.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0058 a0001c0001t0006 a0001c0001t0058	a0001c0001t0006g0005 a0001c0001t0006g0030 a0001c0001t0006g0031 others(2): Show a0001c0001t0006g0005 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0033 a0001c0001t0058g0005	5	412	0.0121	23	c.73 others(34): Show c.7382_*7383insTATATATATATATTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	412	0.0024	23	c.73 others(34): Show c.7382_*7383insTATATATATATTTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
APAF1_chr12_98640290_98740433	98643812	G G	GTTTTCTT others(16): Show GTTTTCTTTTTTTTTTTTTTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01069.hp1 others(28): Show HG00408.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01433.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02735.hp1 HG03239.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp2 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18991.hp1 NA19043.hp1 NA19057.hp2 NA19063.hp2 NA19081.hp1 NA19082.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0038 a0001c0001t0002 a0001c0001t0021 a0001c0001t0038	a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0314 others(28): Show a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0021g0321 a0001c0001t0038g0320	31	366	0.0847	23	c.-20 others(34): Show c.-2065_-2064insTTTTCTTTTTTTTTTTTTTTTCC	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		1477		chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0181	3	366	0.0082	23	c.956 others(38): Show c.956-274_956-273insATATATATATATATATATATATT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA2_chr15_28880974_29123315	29086824	T T	TTGTTTTA others(16): Show TTGTTTTATAATTATATAAAATAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	204	0.0049	23	c.107 others(42): Show c.1070-6249_1070-6227dupGTTTTATAATTATATAAAATAAT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02132.hp2 others(17): Show HG00544.hp2 HG00558.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18953.hp1 NA18968.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18998.hp2 NA19003.hp1 NA19057.hp1 NA19058.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0055 others(17): Show a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0004g0181	20	358	0.0559	23	c.813 others(40): Show c.813+2901_813+2902insAAAAAAAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02145.hp2 HG02451.hp1 others(3): Show HG01993.hp1 HG02145.hp2 HG02451.hp1 HG02622.hp1 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0112 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0112 a0001c0001t0001g0149 a0001c0001t0002g0310 a0001c0001t0002g0323 a0001c0001t0003g0317	6	358	0.0168	23	c.814 others(40): Show c.814-8481_814-8480insCTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp1 HG01358.hp1 others(8): Show HG01081.hp2 HG01261.hp1 HG01358.hp1 HG03225.hp2 HG03688.hp1 NA18952.hp1 NA18993.hp2 NA19000.hp1 NA19062.hp2 NA19063.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0116 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0172 a0001c0001t0001g0200 a0001c0001t0001g0247 a0001c0001t0002g0255 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0002g0338	11	358	0.0307	23	c.814 others(40): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(16): Show CCGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG02630.hp1 HG02976.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0035 a0002c0002 a0018c0035	a0002c0002t0002 a0018c0035t0002 a0002c0002t0002 a0018c0035t0002	a0002c0002t0002g0267 a0018c0035t0002g0068 a0002c0002t0002g0267 a0018c0035t0002g0068	2	350	0.0057	23	c.120 others(38): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APLF_chr2_68462585_68585162	68525742	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0007 a0012c0012t0007	a0012c0012t0007g0027 a0012c0012t0007g0027	1	176	0.0057	23	c.623 others(38): Show c.623-316_623-294dupTTTTTTTTTTTTTTTTTTTTTTT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLP2_chr11_130064894_130149805	130092703	G G	GAGGGAGA others(16): Show GAGGGAGAGAGAGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	274	0.0037	23	c.106 others(42): Show c.106-16726_106-16725insAGGGAGAGAGAGGGAGAGGGGGA	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16			chr11	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp2 others(13): Show HG00099.hp1 HG00639.hp2 HG00735.hp2 HG01256.hp1 HG01261.hp2 HG02027.hp1 HG02109.hp2 HG02135.hp1 HG02818.hp2 HG03139.hp1 HG03471.hp1 NA18943.hp1 NA19005.hp2 NA19060.hp2 NA19074.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0002c0002t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0007 a0002c0002t0001g0006	16	448	0.0357	23	c.-50 others(34): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818348	T T	TATATATA others(16): Show TATATATATGAATATATATATGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0018 a0005c0011t0001g0018	1	462	0.0022	23	c.25 others(34): Show c.2518_*2519insTTCATATATATATTCATATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2351		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818426	A A	ATATATAT others(16): Show ATATATATGAATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02109.hp1 others(12): Show HG01081.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	15	462	0.0325	23	c.24 others(34): Show c.2440_*2441insATTCATATATATATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2273		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7659322	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0370 a0001c0002t0001g0370	1	432	0.0023	23	c.17- others(38): Show c.17-4691_17-4690insATATATATATATATATATATTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTC others(16): Show CTCTCTTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	354	0.0028	23	c.570 others(38): Show c.570-771_570-770insCTTCTCTCTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3G_chr22_39072275_39092743	39091373	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	424	0.0024	23	c.39 others(34): Show c.3952_*3953insGTGTGTGTGTGTGTGTGTGTGTG	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding		3631		chr22	TogoVar
APOF_chr12_56355568_56367857	56363211	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0004 a0002c0004t0002g0004	1	278	0.0036	23	c.-46 others(32): Show c.-467_-466insATATATATATATATATATATATT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		355		chr12	TogoVar
APOF_chr12_56355568_56367857	56363211	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0003 a0002c0002t0004g0007 a0002c0002t0002g0003 a0002c0002t0004g0007	2	278	0.0072	23	c.-46 others(32): Show c.-467_-466insATATATATATATATATATATATA	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		355		chr12	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(16): Show GTCTCCCTGTCTCTCTTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	366	0.0027	23	c.11- others(36): Show c.11-374_11-373insGAGAGAGAAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	401	0.0025	23	c.-63 others(32): Show c.-637_-636insAAAAAAAAAATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOO_chrX_23828353_23912938	23829569	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA19084.hp2 NA18988.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0013 a0001c0001t0001g0042	2	269	0.0074	23	c.40 others(34): Show c.4072_*4073insATATATATATATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3783		chrX	TogoVar
APOO_chrX_23828353_23912938	23829573	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	269	0.0037	23	c.40 others(34): Show c.4068_*4069insATATATATATATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3779		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01515.hp1 HG02257.hp2 HG01099.hp1 HG01515.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0250	3	269	0.0112	23	c.561 others(40): Show c.561+6696_561+6718dupTTTTTTTTTTTTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 NA18943.hp2 others(1): Show HG02258.hp2 HG02970.hp1 NA18943.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0027 a0001c0001t0002g0170 a0001c0001t0008g0117 a0001c0001t0002g0027 a0001c0001t0002g0170 a0001c0001t0008g0117	4	266	0.0150	23	c.184 others(42): Show c.1842+1614_1842+1636dupTTTTTTTTTTTTTTTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
APPL2_chr12_105168300_105241174	105186667	T T	TATATATG others(16): Show TATATATGATATCGATATCATATC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG02630.hp2 HG01099.hp1 HG01123.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0018g0270 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0018g0270	3	392	0.0077	23	c.163 others(42): Show c.1634+1605_1634+1606insGATATGATATCGATATCATATAT	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	17/20			chr12	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	432	0.0023	23	c.619 others(40): Show c.619+5926_619+5927insTATATATATATATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2			chr11	TogoVar
AQP4_chr18_26847043_26870707	26850709	G G	GATCCATC others(16): Show GATCCATCCATCCATCCCTCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0065 a0001c0001t0003g0066	2	438	0.0046	23	c.55 others(34): Show c.5501_*5502insGATGGAGGGATGGATGGATGGAT	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding		1333		chr18	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	312	0.0032	23	c.246 others(42): Show c.2461-1415_2461-1414insATATATATATATTTTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp1 HG02027.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0015 a0001c0001t0001g0085	2	312	0.0064	23	c.246 others(42): Show c.2461-1415_2461-1414insATATATATATATATTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	312	0.0032	23	c.246 others(42): Show c.2461-1415_2461-1414insATATATATATATATATTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18945.hp1 HG03017.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0017 a0001c0001t0001g0040	2	312	0.0064	23	c.246 others(42): Show c.2461-1415_2461-1414insATATATATATATATATATTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	312	0.0032	23	c.246 others(42): Show c.2461-1415_2461-1414insATATATATATATATATATATTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARFGEF1_chr8_67192658_67348781	67218207	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02486.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0006 a0001c0001t0001g0091	2	208	0.0096	23	c.433 others(38): Show c.4339-70_4339-69insATATATATATATATATATATATA	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38			chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48963175	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp1 HG02109.hp1 others(8): Show HG01106.hp2 HG02055.hp1 HG02109.hp1 HG02572.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG03540.hp1 HG03710.hp2 HG03942.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 others(8): Show a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0275 a0001c0001t0006g0272 a0001c0001t0006g0273	11	352	0.0313	23	c.839 others(38): Show c.839-641_839-640insAAAAAAAAAAAAAAAAAAAAAAA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152795820	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	342	0.0029	23	c.-10 others(42): Show c.-10+15604_-10+15626dupTTTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152808283	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02683.hp2 HG02451.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0019 a0001c0001t0002g0031	2	342	0.0059	23	c.-9- others(40): Show c.-9-21330_-9-21308dupTTTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152847124	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	342	0.0029	23	c.94- others(40): Show c.94-16480_94-16458dupTTTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP12_chr10_31800398_31933831	31920449	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18944.hp1 HG01258.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0051 a0001c0001t0005g0052	2	322	0.0062	23	c.-11 others(42): Show c.-111+8233_-111+8234insTTTTTTTTTTTTTTTTTTTTTTT	ARHGAP12	ENSG00000165322.18	transcript	ENST00000344936.7	protein_coding	1/19			chr10	TogoVar
ARHGAP15_chr2_143124419_143773352	143397651	A A	AACAAAAC others(16): Show AACAAAACCTAACACTTTAATGTG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	162	0.0062	23	c.475 others(42): Show c.475-37941_475-37919dupTAACACTTTAATGTGACAAAACC	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143673784	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	162	0.0062	23	c.113 others(44): Show c.1139-29635_1139-29634insTATATATATATATATATATATAT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	12/13			chr2	TogoVar
ARHGAP18_chr6_129571132_129715177	129676915	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	238	0.0042	23	c.113 others(42): Show c.113+33086_113+33108dupAAAAAAAAAAAAAAAAAAAAAAA	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	1/14			chr6	TogoVar

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