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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(5): Show ATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19055.hp1 NA18980.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	338	0.0059	12	c.-44 others(23): Show c.-4459_-4458insTATATATTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC3_chr5_91363631_91388317	91371008	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG02622.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	2	402	0.0050	12	c.38 others(21): Show c.380_*391dupTTTTTTTTTTTT	ARRDC3	ENSG00000113369.9	transcript	ENST00000265138.4	protein_coding	8/8	391		chr5	TogoVar
ARRDC4_chr15_97955703_97978833	97957254	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	422	0.0024	12	c.-36 others(23): Show c.-3608_-3607insAAAAAAAAAAAA	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding		3448		chr15	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTAT others(5): Show CTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18977.hp2 HG01975.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0144 a0001c0001t0001g0157	2	412	0.0049	12	c.43 others(23): Show c.4349_*4350insTATATATAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(5): Show CTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00558.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0114 a0001c0001t0001g0137	2	412	0.0049	12	c.43 others(23): Show c.4349_*4350insTATATAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4894510	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02055.hp2 others(4): Show HG01109.hp2 HG01891.hp2 HG02055.hp2 HG02683.hp2 HG03130.hp1 HG03209.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0133 a0001c0001t0001g0343 a0001c0001t0001g0345 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0004t0001g0026 a0001c0004t0001g0028	7	412	0.0170	12	c.459 others(29): Show c.459+2149_459+2160dupTTTTTTTTTTTT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4898665	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01891.hp1 others(1): Show HG00280.hp2 HG01106.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0031 a0001c0002t0001g0373 a0001c0002t0002g0363 others(1): Show a0001c0001t0002g0031 a0001c0002t0001g0373 a0001c0002t0002g0363 a0001c0002t0002g0364	4	412	0.0097	12	c.254 others(29): Show c.254-1801_254-1790dupAAAAAAAAAAAA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	1/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4903031	T T	TTTTCACT others(5): Show TTTTCACTGGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	412	0.0024	12	c.-20 others(21): Show c.-207_-206insGAACCAGTGAAA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		136		chr19	TogoVar
ARSA_chr22_50617754_50633152	50628181	C C	CGGGGCGG others(5): Show CGGGGCGGGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02965.hp2 NA18959.hp2 others(1): Show HG01167.hp2 HG02965.hp2 NA18959.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0043	a0001c0001t0004g0004 a0001c0001t0006g0005 a0001c0001t0012g0025 others(1): Show a0001c0001t0004g0004 a0001c0001t0006g0005 a0001c0001t0012g0025 a0001c0001t0043g0063	4	460	0.0087	12	c.-40 others(21): Show c.-403_-402insCGGCCCCGCCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		30		chr22	TogoVar
ARSB_chr5_78772209_78990310	78787091	C C	CATCTATC others(5): Show CATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG01978.hp1 others(19): Show HG00140.hp2 HG00558.hp2 HG01978.hp1 HG02109.hp1 HG02451.hp2 HG02523.hp1 HG02738.hp1 HG02886.hp2 HG03130.hp1 HG03492.hp2 HG03579.hp2 HG04115.hp2 HG04199.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp2 NA18952.hp2 NA18963.hp1 NA18983.hp1 NA18984.hp1 NA19011.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0019 others(3): Show a0001c0001 a0001c0003 a0001c0019 a0001c0021 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0021 a0001c0001t0047 a0001c0003t0002 a0001c0019t0022 a0001c0021t0003 a0002c0002t0001 a0002c0002t0007 a0002c0002t0019 a0003c0004t0007	a0001c0001t0001g0031 a0001c0001t0001g0134 a0001c0001t0001g0135 others(19): Show a0001c0001t0001g0031 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0236 a0001c0001t0001g0263 a0001c0001t0002g0218 a0001c0001t0004g0020 a0001c0001t0005g0038 a0001c0001t0014g0189 a0001c0001t0021g0173 a0001c0001t0021g0347 a0001c0001t0047g0043 a0001c0003t0002g0082 a0001c0003t0002g0262 a0001c0019t0022g0233 a0001c0021t0003g0358 a0002c0002t0001g0185 a0002c0002t0007g0081 a0002c0002t0019g0052 a0002c0002t0019g0303 a0003c0004t0007g0152	22	360	0.0611	12	c.121 others(31): Show c.1214-5129_1214-5118dupAGATAGATAGAT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78812592	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG03209.hp2 others(4): Show HG02109.hp2 HG02258.hp2 HG03209.hp2 HG03927.hp1 NA18906.hp1 NA18949.hp2 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0021 a0001c0003t0012 others(4): Show a0001c0001t0004 a0001c0001t0021 a0001c0003t0012 a0001c0003t0028 a0001c0003t0058 a0002c0002t0019 a0002c0002t0071	a0001c0001t0004g0009 a0001c0001t0021g0347 a0001c0003t0012g0089 others(4): Show a0001c0001t0004g0009 a0001c0001t0021g0347 a0001c0003t0012g0089 a0001c0003t0028g0051 a0001c0003t0058g0045 a0002c0002t0019g0303 a0002c0002t0071g0280	7	360	0.0194	12	c.121 others(33): Show c.1213+26752_1213+26763dupGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78834607	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0152 a0003c0004t0007g0152	1	360	0.0028	12	c.121 others(31): Show c.1213+4737_1213+4748dupTATATATATATA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78834607	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	360	0.0028	12	c.121 others(31): Show c.1213+4748_1213+4749insTATATATATACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78834607	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03453.hp2 NA19003.hp2 HG02132.hp2 HG03453.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0009 a0002c0002t0011 a0001c0001t0002 a0002c0002t0009 a0002c0002t0011	a0001c0001t0002g0277 a0002c0002t0009g0121 a0002c0002t0011g0230 a0001c0001t0002g0277 a0002c0002t0009g0121 a0002c0002t0011g0230	3	360	0.0083	12	c.121 others(31): Show c.1213+4748_1213+4749insTATATATACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841132	G G	GTACTACT others(5): Show GTACTACTACTAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02818.hp2 HG02895.hp2 others(7): Show HG01496.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp1 HG03516.hp1 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0013	a0001c0001t0021 a0001c0003t0002 a0001c0003t0006 others(6): Show a0001c0001t0021 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0016 a0001c0003t0018 a0001c0003t0069 a0002c0002t0006 a0002c0013t0017	a0001c0001t0021g0347 a0001c0003t0002g0101 a0001c0003t0006g0274 others(7): Show a0001c0001t0021g0347 a0001c0003t0002g0101 a0001c0003t0006g0274 a0001c0003t0007g0011 a0001c0003t0007g0012 a0001c0003t0016g0258 a0001c0003t0018g0260 a0001c0003t0069g0273 a0002c0002t0006g0014 a0002c0013t0017g0015	10	360	0.0278	12	c.114 others(31): Show c.1143-1718_1143-1707dupGTAGTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTAATAAT others(5): Show CTAATAATAATAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0022 a0001c0003t0056g0022	1	360	0.0028	12	c.114 others(31): Show c.1143-1754_1143-1743dupTTATTATTATTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(5): Show CTACTACTAATAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18969.hp2 NA18985.hp2 NA18953.hp1 NA18969.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0051 a0001c0001t0004 a0001c0001t0013 a0001c0001t0051	a0001c0001t0004g0238 a0001c0001t0013g0227 a0001c0001t0051g0239 a0001c0001t0004g0238 a0001c0001t0013g0227 a0001c0001t0051g0239	3	360	0.0083	12	c.114 others(31): Show c.1143-1743_1143-1742insTTATTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(5): Show CTACTACTACTAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp2 others(2): Show HG01070.hp2 HG01071.hp1 HG01175.hp2 HG04115.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0047 a0002c0002t0003 a0002c0002t0006 others(1): Show a0001c0001t0047 a0002c0002t0003 a0002c0002t0006 a0002c0002t0057	a0001c0001t0047g0043 a0002c0002t0003g0196 a0002c0002t0003g0197 others(2): Show a0001c0001t0047g0043 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0006g0206 a0002c0002t0057g0284	5	360	0.0139	12	c.114 others(31): Show c.1143-1743_1143-1742insTTAGTAGTAGTA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78873498	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG02647.hp2 others(3): Show HG01243.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0017 a0001c0005t0075 a0001c0003t0002 a0001c0005t0017 a0001c0005t0075	a0001c0003t0002g0078 a0001c0003t0002g0101 a0001c0003t0002g0253 others(3): Show a0001c0003t0002g0078 a0001c0003t0002g0101 a0001c0003t0002g0253 a0001c0003t0002g0270 a0001c0005t0017g0255 a0001c0005t0075g0112	6	360	0.0167	12	c.114 others(33): Show c.1142+12074_1142+12085dupAAAAAAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG02004.hp2 others(14): Show HG01243.hp1 HG01361.hp1 HG02004.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03453.hp2 HG03834.hp1 HG03942.hp2 NA19043.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0017 a0001c0022 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 others(12): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0003t0012 a0001c0003t0016 a0001c0003t0018 a0001c0005t0076 a0001c0007t0036 a0001c0017t0002 a0001c0022t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0026 a0002c0002t0038 a0003c0004t0002	a0001c0001t0002g0277 a0001c0001t0007g0250 a0001c0003t0002g0078 others(14): Show a0001c0001t0002g0277 a0001c0001t0007g0250 a0001c0003t0002g0078 a0001c0003t0002g0269 a0001c0003t0002g0276 a0001c0003t0012g0089 a0001c0003t0016g0258 a0001c0003t0018g0260 a0001c0005t0076g0268 a0001c0007t0036g0259 a0001c0017t0002g0088 a0001c0022t0006g0359 a0002c0002t0002g0125 a0002c0002t0003g0129 a0002c0002t0026g0086 a0002c0002t0038g0006 a0003c0004t0002g0128	17	360	0.0472	12	c.313 others(29): Show c.313-3336_313-3325dupGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980725	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02965.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0035 a0001c0003t0070 a0001c0005t0017 a0001c0003t0035 a0001c0003t0070 a0001c0005t0017	a0001c0003t0035g0357 a0001c0003t0070g0251 a0001c0005t0017g0255 a0001c0003t0035g0357 a0001c0003t0070g0251 a0001c0005t0017g0255	3	360	0.0083	12	c.312 others(29): Show c.312+4211_312+4212insACACACACACAC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980744	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(78): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02293.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03225.hp2 HG03471.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0014 a0004c0006 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012 a0001c0003t0022 a0001c0003t0060 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0025 a0002c0002t0030 a0002c0002t0045 a0002c0002t0057 a0002c0002t0063 a0002c0002t0064 a0002c0002t0067 a0003c0004t0001 a0003c0004t0003 a0003c0004t0011 a0003c0004t0033 a0003c0014t0015 a0004c0006t0004 a0007c0012t0032	a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0315 others(77): Show a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0317 a0001c0001t0003g0190 a0001c0001t0003g0214 a0001c0001t0003g0293 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0005g0195 a0001c0001t0005g0208 a0001c0001t0007g0181 a0001c0001t0008g0286 a0001c0001t0008g0297 a0001c0001t0014g0189 a0001c0001t0014g0199 a0001c0001t0020g0290 a0001c0001t0024g0182 a0001c0001t0025g0316 a0001c0001t0039g0291 a0001c0001t0040g0288 a0001c0003t0002g0320 a0001c0003t0006g0212 a0001c0003t0012g0177 a0001c0003t0022g0178 a0001c0003t0060g0210 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0287 a0002c0002t0001g0299 a0002c0002t0001g0310 a0002c0002t0002g0179 a0002c0002t0002g0186 a0002c0002t0002g0295 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0306 a0002c0002t0003g0319 a0002c0002t0005g0192 a0002c0002t0005g0318 a0002c0002t0006g0191 a0002c0002t0006g0204 a0002c0002t0006g0205 a0002c0002t0006g0206 a0002c0002t0006g0211 a0002c0002t0007g0313 a0002c0002t0008g0311 a0002c0002t0009g0121 a0002c0002t0009g0193 a0002c0002t0009g0194 a0002c0002t0009g0309 a0002c0002t0013g0300 a0002c0002t0014g0106 a0002c0002t0015g0207 a0002c0002t0015g0296 a0002c0002t0018g0308 a0002c0002t0019g0303 a0002c0002t0025g0213 a0002c0002t0030g0304 a0002c0002t0045g0302 a0002c0002t0057g0284 a0002c0002t0063g0198 a0002c0002t0064g0285 a0002c0002t0067g0203 a0003c0004t0001g0001 a0003c0004t0001g0187 a0003c0004t0003g0283 a0003c0004t0003g0292 a0003c0004t0011g0007 a0003c0004t0033g0282 a0003c0014t0015g0202 a0004c0006t0004g0188 a0007c0012t0032g0180	81	360	0.2250	12	c.312 others(29): Show c.312+4192_312+4193insTACACACACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSD_chrX_2898972_2934339	2908231	T T	TTATCTAT others(5): Show TTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0038 a0003c0018t0038	a0003c0018t0038g0206 a0003c0018t0038g0206	1	344	0.0029	12	c.142 others(29): Show c.1420+478_1420+489dupGATAGATAGATA	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	9/9			chrX	TogoVar
ARSD_chrX_2898972_2934339	2909080	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19078.hp2 NA18972.hp1 NA19078.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0117 a0004c0004t0021g0135 a0004c0004t0021g0117 a0004c0004t0021g0135	2	344	0.0058	12	c.129 others(29): Show c.1299-250_1299-239dupTGTGTGTGTGTG	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	8/9			chrX	TogoVar
ARSF_chrX_3036471_3117727	3036854	T T	TTTATATA others(5): Show TTTATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02451.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036	5	193	0.0259	12	c.-48 others(23): Show c.-4838_-4837insTTATATATAATA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4616		chrX	TogoVar
ARSF_chrX_3036471_3117727	3037087	A A	AATATATA others(5): Show AATATATAATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	193	0.0052	12	c.-46 others(23): Show c.-4605_-4604insATATATAATATT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4383		chrX	TogoVar
ARSF_chrX_3036471_3117727	3055342	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	193	0.0052	12	c.-28 others(31): Show c.-28-12719_-28-12708dupAAAAAAAAAAAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSF_chrX_3036471_3117727	3077789	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(38): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00673.hp1 HG00741.hp1 HG01168.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02074.hp1 HG02258.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18994.hp1 NA19043.hp1 NA19072.hp1 NA19076.hp1 NA19091.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0003c0008 a0004c0011 a0007c0021 a0008c0019	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0003c0008t0001 a0004c0011t0001 a0007c0021t0001 a0008c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0016 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0002t0001g0126 a0001c0005t0001g0009 a0001c0005t0001g0040 a0003c0008t0001g0115 a0003c0008t0001g0167 a0004c0011t0001g0024 a0007c0021t0001g0102 a0008c0019t0001g0076	41	193	0.2124	12	c.283 others(29): Show c.283+1138_283+1149dupATTATTATTATT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSF_chrX_3036471_3117727	3077789	T T	TTTTTTAT others(5): Show TTTTTTATTATTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20752.hp1 HG02735.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0088 a0001c0020t0001g0092 a0001c0001t0001g0088 a0001c0020t0001g0092	2	193	0.0104	12	c.283 others(29): Show c.283+1122_283+1123insTTTATTATTATT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSF_chrX_3036471_3117727	3098047	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	193	0.0052	12	c.968 others(29): Show c.968-3010_968-2999dupCACACACACACA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSG_chr17_68286495_68425814	68331237	C C	CTTTCTTT others(5): Show CTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00639.hp2 others(18): Show HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp1 HG02523.hp2 HG02615.hp1 HG02895.hp2 HG02970.hp1 HG03710.hp2 NA18952.hp2 NA19001.hp1 NA19010.hp1 NA19066.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0006 a0004c0018 a0005c0007 a0010c0029	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0004c0006t0001 a0004c0018t0001 a0005c0007t0001 a0010c0029t0002	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0031 others(18): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0122 a0001c0001t0001g0215 a0001c0001t0002g0007 a0001c0001t0002g0245 a0001c0003t0004g0206 a0002c0002t0001g0246 a0002c0002t0002g0090 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0302 a0003c0004t0001g0051 a0003c0004t0001g0152 a0004c0006t0001g0173 a0004c0018t0001g0002 a0005c0007t0001g0153 a0010c0029t0002g0217	21	304	0.0691	12	c.219 others(31): Show c.219-12356_219-12355insGTTTCTTTCTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68366673	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	304	0.0033	12	c.705 others(29): Show c.705-1872_705-1871insGTGTGTGTGTGT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3008449	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	248	0.0040	12	c.93- others(27): Show c.93-1526_93-1515dupTCTTTCTTTCTT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3021881	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	248	0.0081	12	c.902 others(29): Show c.902-2120_902-2109dupGTGTGTGTGTGT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3036854	T T	TTTATATA others(5): Show TTTATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02451.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0225 others(2): Show a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0231	5	248	0.0202	12	c.34 others(23): Show c.3469_*3470insTTATATATAATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2744		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037087	A A	AATATATA others(5): Show AATATATAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	248	0.0040	12	c.37 others(23): Show c.3702_*3703insATATATAATATT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2977		chrX	TogoVar
ARSJ_chr4_113895284_113984647	113921117	A A	ACACACAC others(5): Show ACACACACACACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0194 a0001c0001t0007g0194	1	350	0.0029	12	c.399 others(31): Show c.399-17443_399-17442insAGTGTGTGTGTG	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ART1_chr11_3640128_3669416	3663076	A A	ATCTCATC others(5): Show ATCTCATCTCATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01106.hp2 others(2): Show HG00735.hp2 HG00741.hp2 HG01106.hp2 HG02615.hp1 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0080 a0001c0001t0001g0148 a0004c0005t0003g0067 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0148 a0004c0005t0003g0067 a0004c0005t0003g0068 a0004c0005t0003g0069	5	394	0.0127	12	c.887 others(29): Show c.887-1014_887-1013insTCATCTCATCTC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART3_chr4_76069709_76117786	76089362	T T	TGTTTCTA others(5): Show TGTTTCTAATTAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG03130.hp1 others(2): Show HG01243.hp1 HG02280.hp1 HG03130.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0162 a0001c0001t0004g0226 others(1): Show a0001c0001t0004g0032 a0001c0001t0004g0162 a0001c0001t0004g0226 a0001c0001t0004g0231	5	392	0.0128	12	c.781 others(29): Show c.781+6827_781+6828insGTTTCTAATTAG	ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	3/11			chr4	TogoVar
ART4_chr12_14820569_14848526	14824817	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp1 others(25): Show HG00099.hp2 HG00438.hp1 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01978.hp2 HG01993.hp1 HG02165.hp1 HG02293.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp2 NA18977.hp1 NA18981.hp1 NA19004.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0002c0002t0015 others(2): Show a0001c0001t0004 a0002c0002t0004 a0002c0002t0015 a0002c0002t0027 a0002c0002t0028	a0001c0001t0004g0195 a0001c0001t0004g0210 a0001c0001t0004g0231 others(23): Show a0001c0001t0004g0195 a0001c0001t0004g0210 a0001c0001t0004g0231 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0249 a0001c0001t0004g0257 a0001c0001t0004g0274 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0324 a0002c0002t0004g0011 a0002c0002t0004g0066 a0002c0002t0004g0074 a0002c0002t0004g0080 a0002c0002t0004g0085 a0002c0002t0004g0088 a0002c0002t0004g0091 a0002c0002t0004g0093 a0002c0002t0004g0098 a0002c0002t0004g0100 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0015g0010 a0002c0002t0027g0048 a0002c0002t0028g0081	28	380	0.0737	12	c.45 others(23): Show c.4542_*4553dupGTGTGTGTGTGT	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding		751		chr12	TogoVar
ART4_chr12_14820569_14848526	14830119	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01496.hp2 others(5): Show HG00639.hp1 HG00741.hp2 HG01496.hp2 HG01981.hp1 HG02165.hp1 HG02738.hp2 HG03017.hp2 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0257 a0002c0002t0004g0082 a0002c0002t0004g0088 others(5): Show a0001c0001t0004g0257 a0002c0002t0004g0082 a0002c0002t0004g0088 a0002c0002t0004g0093 a0002c0002t0004g0104 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107	8	380	0.0211	12	c.854 others(27): Show c.854-669_854-658dupACACACACACAC	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ART4_chr12_14820569_14848526	14830649	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	380	0.0026	12	c.854 others(29): Show c.854-1188_854-1187insTATATATATACA	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ARV1_chr1_230974094_231005733	230984357	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	402	0.0025	12	c.175 others(29): Show c.175-3958_175-3957insTGTGTGCGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp1 others(42): Show HG00408.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02523.hp1 HG02698.hp2 HG03492.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18953.hp1 NA18959.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18992.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19067.hp2 NA19072.hp2 NA19075.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0050 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246	45	402	0.1119	12	c.175 others(29): Show c.175-3958_175-3957insTGTGTGCGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp1 others(9): Show HG00099.hp1 HG00099.hp2 HG00735.hp1 HG01192.hp2 HG01358.hp2 HG01515.hp1 HG02683.hp1 HG03654.hp1 HG03834.hp1 NA18978.hp1 NA19002.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0130	12	402	0.0299	12	c.175 others(29): Show c.175-3958_175-3957insTGTGTGTGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984361	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	402	0.0025	12	c.175 others(29): Show c.175-3958_175-3957insTGTGTGTGCGCG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984361	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp2 HG04199.hp1 HG02970.hp1 HG03098.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0248	3	402	0.0075	12	c.175 others(29): Show c.175-3958_175-3957insTGTGTGTGTGCG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA19054.hp2 NA19064.hp2 HG01952.hp2 NA19054.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0002g0181 a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0002g0181	3	402	0.0075	12	c.175 others(29): Show c.175-1625_175-1614dupTTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	24998889	C C	CCAGAAGT others(5): Show CCAGAAGTGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	12	c.57 others(23): Show c.5780_*5781insTTTCCACTTCTG	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		4804		chrX	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(5): Show TTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(11): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG01106.hp1 HG01515.hp1 HG01517.hp2 HG02630.hp2 HG02698.hp1 NA18939.hp2 NA18945.hp1 NA18965.hp1 NA19005.hp1 NA19070.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0083 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0096	14	300	0.0467	12	c.-29 others(23): Show c.-2903_-2902insTATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)