Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(14): Show CTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG01884.hp1 others(9): Show HG00733.hp1 HG01168.hp2 HG01884.hp1 HG02056.hp2 HG02258.hp2 HG03195.hp2 NA18947.hp1 NA18962.hp1 NA18988.hp1 NA19000.hp2 NA19010.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0012 a0001c0003t0014 a0001c0003t0022 a0001c0005t0017	a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 others(9): Show a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0002g0013 a0001c0003t0002g0349 a0001c0003t0002g0351 a0001c0003t0003g0050 a0001c0003t0005g0060 a0001c0003t0012g0089 a0001c0003t0014g0220 a0001c0003t0022g0229 a0001c0005t0017g0353	12	360	0.0333	21	c.114 others(40): Show c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTA		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7						chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(14): Show CTACTACTACTACTACTAATAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02572.hp2 HG03490.hp1 others(1): Show HG02071.hp1 HG02572.hp2 HG03490.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0027	a0001c0003t0001g0326 a0001c0003t0002g0320 a0001c0003t0003g0334 others(1): Show a0001c0003t0001g0326 a0001c0003t0002g0320 a0001c0003t0003g0334 a0001c0003t0027g0114	4	360	0.0111	21	c.114 others(40): Show c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTA		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7						chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(14): Show CTACTACTACTACTACTACTAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp2 HG01255.hp1 others(2): Show HG01168.hp1 HG01192.hp2 HG01255.hp1 HG02698.hp1 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0033 others(1): Show a0002c0002t0001 a0002c0002t0013 a0002c0002t0033 a0002c0002t0064	a0002c0002t0001g0184 a0002c0002t0013g0216 a0002c0002t0013g0240 others(2): Show a0002c0002t0001g0184 a0002c0002t0013g0216 a0002c0002t0013g0240 a0002c0002t0033g0217 a0002c0002t0064g0285	5	360	0.0139	21	c.114 others(40): Show c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTAGTA		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7						chr5	TogoVar
ARSF_chrX_3036471_3117727	3037213	A A	AAATATTA others(14): Show AAATATTATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0005 a0005c0006t0001g0006	2	193	0.0104	21	c.-44 others(32): Show c.-4479_-4478insAATATTATATATAATATATAT		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding					4257		chrX	TogoVar
ARSF_chrX_3036471_3117727	3077789	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01978.hp2 others(9): Show HG00738.hp1 HG01256.hp1 HG01978.hp2 HG03239.hp1 HG03942.hp1 NA18953.hp1 NA18989.hp1 NA19005.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0001g0178	12	193	0.0622	21	c.283 others(38): Show c.283+1129_283+1149dupATTATTATTATTATTATTATT		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSG_chr17_68286495_68425814	68379421	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	304	0.0033	21	c.983 others(38): Show c.983-5634_983-5614dupTTTTTTTTTTTTTTTTTTTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3037213	A A	AAATATTA others(14): Show AAATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01169.hp1 HG00733.hp2 HG01168.hp2 HG01169.hp1	a0001 a0005 a0001 a0005	a0001c0015 a0005c0008 a0001c0015 a0005c0008	a0001c0015t0004 a0005c0008t0004 a0001c0015t0004 a0005c0008t0004	a0001c0015t0004g0211 a0005c0008t0004g0212 a0005c0008t0004g0213 a0001c0015t0004g0211 a0005c0008t0004g0212 a0005c0008t0004g0213	3	248	0.0121	21	c.38 others(32): Show c.3828_*3829insAATATTATATATAATATATAT		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					3103		chrX	TogoVar
ARV1_chr1_230974094_231005733	230986668	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	402	0.0025	21	c.175 others(38): Show c.175-1634_175-1614dupTTTTTTTTTTTTTTTTTTTTT		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(14): Show TGCAGCAGCAGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19060.hp1 NA19060.hp1	a0070 a0070	a0070c0085 a0070c0085	a0070c0085t0056 a0070c0085t0056	a0070c0085t0056g0082 a0070c0085t0056g0082	1	193	0.0052	21	c.219 others(28): Show c.219_239dupGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln74_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0031 a0001c0002t0019g0031	1	362	0.0028	21	c.55 others(32): Show c.5576_*5577insAAAAAAAATATATATATATAT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding					4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01934.hp2 NA18995.hp1 HG01070.hp2 HG01934.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0108 a0001c0001t0003g0068 a0001c0001t0005g0098 a0001c0001t0002g0108 a0001c0001t0003g0068 a0001c0001t0005g0098	3	362	0.0083	21	c.55 others(32): Show c.5576_*5577insAAAAAATATATATATATATAT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding					4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(14): Show AAAAAATATAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	362	0.0028	21	c.55 others(32): Show c.5576_*5577insAAAAATATAATATATATATAT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding					4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 NA19082.hp2 HG03688.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0126 a0001c0001t0012g0123 a0001c0001t0002g0126 a0001c0001t0012g0123	2	362	0.0055	21	c.55 others(32): Show c.5576_*5577insAATATATATATATATATATAT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding					4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049228	G G	GGGGCAGA others(14): Show GGGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA18951.hp1 NA20129.hp2 HG02922.hp2 NA18951.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0267 a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0001g0267 a0002c0002t0006g0304 a0002c0002t0006g0305	3	308	0.0097	21	c.55 others(32): Show c.5502_*5503insTCCATGTGTTCCCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2875		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049238	G G	GGAACACA others(14): Show GGAACACATGGAGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0098 a0002c0002t0001g0099	2	308	0.0065	21	c.54 others(32): Show c.5492_*5493insTCCTCTGCCCTCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2865		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049318	A A	AGGAGAAC others(14): Show AGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 NA18942.hp2 HG02572.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0024 a0001c0001t0021g0263 a0001c0001t0002g0024 a0001c0001t0021g0263	2	308	0.0065	21	c.54 others(32): Show c.5412_*5413insCTCTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2785		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049373	G G	GGGGCAGA others(14): Show GGGGCAGAGGAGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	308	0.0033	21	c.53 others(32): Show c.5357_*5358insTCCATGTGTTCTCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2730		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049380	A A	AGGAGAAC others(14): Show AGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	308	0.0033	21	c.53 others(32): Show c.5350_*5351insCTCTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2723		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGGGGAAC others(14): Show GGGGGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18951.hp2 HG00673.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0174 a0001c0001t0002g0192	2	308	0.0065	21	c.52 others(32): Show c.5246_*5247insTCTGCCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049573	T T	TACATGGG others(14): Show TACATGGGGGGCAGAGGAGAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03486.hp1 NA18522.hp1 HG02895.hp2 HG03486.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0001 a0002c0002t0026 a0001c0001t0013 a0002c0002t0001 a0002c0002t0026	a0001c0001t0013g0302 a0002c0002t0001g0276 a0002c0002t0026g0062 a0001c0001t0013g0302 a0002c0002t0001g0276 a0002c0002t0026g0062	3	308	0.0097	21	c.51 others(32): Show c.5157_*5158insGTTCTCCTCTGCCCCCCATGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2530		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049608	A A	AGGGGAAC others(14): Show AGGGGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	308	0.0033	21	c.51 others(32): Show c.5122_*5123insCTCTGCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2495		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049663	G G	GGGGCAGA others(14): Show GGGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02155.hp1 HG03017.hp1 others(1): Show HG00621.hp2 HG02155.hp1 HG03017.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0002g0150 a0001c0001t0002g0190 others(1): Show a0001c0001t0001g0186 a0001c0001t0002g0150 a0001c0001t0002g0190 a0001c0001t0002g0191	4	308	0.0130	21	c.50 others(32): Show c.5067_*5068insTCCATGTGTTCCCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2440		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049694	G G	GGAACACA others(14): Show GGAACACACGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	308	0.0033	21	c.50 others(32): Show c.5036_*5037insTCCTCTGCCCCCCGTGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2409		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049794	A A	AGGAGAAC others(14): Show AGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01496.hp1 others(5): Show HG00621.hp2 HG00673.hp2 HG01496.hp1 HG02155.hp1 HG03490.hp2 HG03710.hp2 NA18951.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0186 a0001c0001t0002g0174 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0186 a0001c0001t0002g0174 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0226 a0002c0002t0001g0090	8	308	0.0260	21	c.49 others(32): Show c.4936_*4937insCTCTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2309		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049818	A A	AGAACACA others(14): Show AGAACACATGGGGGCAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	308	0.0033	21	c.49 others(32): Show c.4912_*4913insCCCCTCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2285		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GGAACACA others(14): Show GGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA18946.hp2 NA19010.hp1 HG01192.hp2 NA18946.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0089 a0002c0002t0001g0066 a0002c0002t0001g0068 a0001c0001t0002g0089 a0002c0002t0001g0066 a0002c0002t0001g0068	3	308	0.0097	21	c.48 others(32): Show c.4850_*4851insTCCTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049918	A A	AGGAGAAC others(14): Show AGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	308	0.0033	21	c.48 others(32): Show c.4812_*4813insCTCTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2185		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049921	G G	GGAACACA others(14): Show GGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	308	0.0033	21	c.48 others(32): Show c.4809_*4810insTCCTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2182		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049980	A A	AGGGGAAC others(14): Show AGGGGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	308	0.0033	21	c.47 others(32): Show c.4750_*4751insCTCTGCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2123		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050001	A A	AGGAGAAC others(14): Show AGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA21309.hp2 HG00558.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0005 a0001c0001t0002 a0001c0006t0005	a0001c0001t0002g0202 a0001c0006t0005g0292 a0001c0001t0002g0202 a0001c0006t0005g0292	2	308	0.0065	21	c.47 others(32): Show c.4729_*4730insCTCTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2102		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050066	A A	AGAACACA others(14): Show AGAACACATGGGGGCAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0118 a0002c0002t0003g0118	1	308	0.0033	21	c.46 others(32): Show c.4664_*4665insCCCCTCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2037		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050087	A A	AGAACACA others(14): Show AGAACACATGGGGGCAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01516.hp1 HG01975.hp2 others(5): Show HG00558.hp2 HG01516.hp1 HG01975.hp2 HG02027.hp2 NA18940.hp2 NA18964.hp2 NA18990.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0154 a0001c0001t0002g0169 others(5): Show a0001c0001t0002g0054 a0001c0001t0002g0154 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207	8	308	0.0260	21	c.46 others(32): Show c.4643_*4644insCCCCTCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2016		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050108	A A	AGAACACA others(14): Show AGAACACATGGGGGCAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0198 a0001c0001t0017g0198	1	308	0.0033	21	c.46 others(32): Show c.4622_*4623insCCCCTCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1995		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050126	A A	AGGGGAAC others(14): Show AGGGGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	308	0.0033	21	c.46 others(32): Show c.4604_*4605insCTCTGCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1977		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050137	T T	TGGGGGCA others(14): Show TGGGGGCAGAGGAGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	308	0.0033	21	c.45 others(32): Show c.4593_*4594insCATGTGTTCTCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1966		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGCA others(14): Show TGGGGGCAGAGGAGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	308	0.0033	21	c.45 others(32): Show c.4552_*4553insCATGTGTTCTCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050211	A A	AGAACACA others(14): Show AGAACACATGGGGGGCAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	308	0.0033	21	c.45 others(32): Show c.4519_*4520insCCCTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1892		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071047	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	308	0.0033	21	c.270 others(40): Show c.2701+5300_2701+5301insCTCTCTCTCTCTCTCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130093686	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0166 a0001c0005t0001g0166	1	308	0.0033	21	c.240 others(40): Show c.2402-1544_2402-1543insCTTTTTTTTTTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262416	A A	AAAAAAAA others(14): Show AAAAAAAAAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0288 a0001c0006t0005g0288	1	308	0.0033	21	c.187 others(40): Show c.187-25423_187-25422insCTCTCTCTCTCTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254228	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0174 a0001c0003t0016g0174	1	210	0.0048	21	c.127 others(40): Show c.127-25089_127-25088insTATATATATATATATATATAT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27						chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(14): Show TATATATATATATTATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp1 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0044 a0001c0003t0004g0020 a0001c0003t0004g0044	2	210	0.0095	21	c.127 others(40): Show c.127-25062_127-25061insTATATATATATTATATATACA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9286447	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	210	0.0048	21	c.199 others(38): Show c.199+7058_199+7059insTATATATATATATATATATAT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	2/27						chr2	TogoVar
ASB11_chrX_15276697_15320640	15309967	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA21309.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0130 a0001c0001t0003g0072 a0001c0001t0003g0130	2	306	0.0065	21	c.181 others(38): Show c.181+5437_181+5457dupTTTTTTTTTTTTTTTTTTTTT		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6						chrX	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01070.hp2 others(27): Show HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01256.hp1 HG01891.hp1 HG01993.hp1 HG02055.hp2 HG02273.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18956.hp2 NA18959.hp1 NA18971.hp2 NA18979.hp2 NA18985.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0004c0004 others(2): Show a0001c0001 a0001c0002 a0004c0004 a0005c0007 a0006c0008	a0001c0001t0003 a0001c0001t0030 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0030 a0001c0002t0003 a0004c0004t0003 a0005c0007t0003 a0006c0008t0003	a0001c0001t0003g0055 a0001c0001t0003g0096 a0001c0001t0003g0097 others(27): Show a0001c0001t0003g0055 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0136 a0001c0001t0003g0158 a0001c0001t0003g0165 a0001c0001t0003g0175 a0001c0001t0003g0243 a0001c0001t0003g0274 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0030g0288 a0001c0002t0003g0167 a0004c0004t0003g0149 a0005c0007t0003g0293 a0005c0007t0003g0308 a0005c0007t0003g0309 a0005c0007t0003g0318 a0006c0008t0003g0303 a0006c0008t0003g0307	30	380	0.0790	21	c.89 others(30): Show c.899_*919dupAAAAAAAAAAAAAAAAAAAAA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12				920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176218621	A A	AATATATA others(14): Show AATATATATTTGTATGATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0345 a0001c0002t0001g0345	1	410	0.0024	21	c.671 others(38): Show c.671-1633_671-1613dupATATATCATACAAATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219469	T T	TTGTATGA others(14): Show TTGTATGATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18965.hp2 NA18992.hp1 others(1): Show NA18946.hp1 NA18965.hp2 NA18992.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0187	4	410	0.0098	21	c.670 others(38): Show c.670+1665_670+1685dupTATATATTTATATATCATACA		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	368	0.0027	21	c.-27 others(32): Show c.-2768_-2767insAAAAAAAAAAAAAAAAAAAAA		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding					2037		chr15	TogoVar
ASB7_chr15_100597589_100656701	100611484	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG01361.hp2 others(22): Show HG00544.hp2 HG00639.hp1 HG01361.hp2 HG02027.hp2 HG02083.hp2 HG02148.hp2 HG02896.hp2 HG03225.hp2 HG03710.hp2 HG04204.hp2 NA18747.hp1 NA18942.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18981.hp2 NA18983.hp1 NA18991.hp2 NA18995.hp2 NA19010.hp1 NA19012.hp2 NA19060.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0084 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0270 a0001c0001t0003g0087 a0001c0001t0006g0062 a0001c0003t0002g0053	25	368	0.0679	21	c.-51 others(36): Show c.-51-669_-51-668insTTTTTTTTTTTTTTTTTTTTT		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB9_chrX_15238987_15275083	15267427	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	336	0.0030	21	c.94+ others(36): Show c.94+2353_94+2354insTTTTTTTTTTTTTTTTTTTTA		ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6						chrX	TogoVar

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