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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02451.hp1 others(15): Show HG00735.hp2 HG01243.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp2 NA18968.hp2 NA18977.hp1 NA19089.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0001c0035 a0002c0001 a0002c0005 a0005c0017 a0006c0029	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0021t0001 a0001c0035t0001 a0002c0001t0001 a0002c0005t0001 a0005c0017t0001 a0006c0029t0001	a0001c0002t0001g0022 a0001c0002t0001g0049 a0001c0002t0001g0062 others(15): Show a0001c0002t0001g0022 a0001c0002t0001g0049 a0001c0002t0001g0062 a0001c0002t0001g0100 a0001c0002t0001g0207 a0001c0002t0001g0307 a0001c0002t0001g0314 a0001c0003t0001g0124 a0001c0004t0001g0204 a0001c0006t0001g0029 a0001c0006t0001g0031 a0001c0006t0001g0167 a0001c0021t0001g0308 a0001c0035t0001g0030 a0002c0001t0001g0006 a0002c0005t0001g0274 a0005c0017t0001g0157 a0006c0029t0001g0171	18	350	0.0514	26	c.37 others(37): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	314	0.0032	26	c.651 others(45): Show c.651-44499_651-44498insATATATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	314	0.0032	26	c.651 others(45): Show c.651-44503_651-44502insATATATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02622.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0125 a0001c0001t0001g0128	2	314	0.0064	26	c.651 others(45): Show c.651-44517_651-44516insGTGTATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG01891.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0102 a0001c0001t0001g0104	2	314	0.0064	26	c.651 others(45): Show c.651-44517_651-44516insGTATATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03942.hp1 HG04204.hp2 others(5): Show HG02135.hp1 HG03942.hp1 HG04204.hp2 NA18612.hp1 NA18966.hp1 NA18979.hp2 NA18982.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0019 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0048 a0001c0001t0004g0005	8	287	0.0279	26	c.80 others(35): Show c.804_*805insCACACACACACACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18942.hp1 NA18942.hp2 others(1): Show HG01099.hp1 NA18942.hp1 NA18942.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	4	287	0.0139	26	c.82 others(35): Show c.822_*823insCACACACACACACACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0042 a0001c0003t0002g0042	1	275	0.0036	26	c.59- others(39): Show c.59-721_59-696dupATATATATATATATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00741.hp1 NA19079.hp1 HG00558.hp1 HG00741.hp1 NA19079.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0003 a0002c0001t0002g0005	3	261	0.0115	26	c.-21 others(37): Show c.-2193_-2192insTATATATATATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	308	0.0033	26	c.151 others(43): Show c.1519+752_1519+753insTATATATATAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp1 HG02257.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0303 a0001c0001t0001g0242 a0001c0001t0001g0303	2	308	0.0065	26	c.151 others(43): Show c.1519+752_1519+753insTATATATATATAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109753515	A A	ATAAATAT others(19): Show ATAAATATTTATATATATATTTATATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02080.hp2 others(15): Show HG00673.hp1 HG02027.hp2 HG02080.hp2 HG02155.hp1 HG02523.hp1 HG03239.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18952.hp1 NA18954.hp1 NA18979.hp2 NA18982.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19064.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0312 a0001c0001t0001g0319 a0002c0003t0001g0306 others(15): Show a0001c0001t0001g0312 a0001c0001t0001g0319 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0324 a0002c0003t0001g0325	18	354	0.0509	26	c.905 others(43): Show c.905-1013_905-1012insAATATAAATATATATATAAATATTTA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756979	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0103 a0004c0005t0001g0103	1	354	0.0028	26	c.904 others(41): Show c.904+783_904+784insCTTTCTTTCTTTCTTTCTTTCTTTCT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(19): Show TAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	354	0.0028	26	c.58- others(43): Show c.58-16988_58-16987insTATATATATATATATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	354	0.0028	26	c.58- others(43): Show c.58-16989_58-16988insATATATATATATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA19062.hp1 HG02280.hp1 NA19062.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0057 a0002c0001t0001 a0002c0001t0057	a0002c0001t0001g0026 a0002c0001t0057g0188 a0002c0001t0001g0026 a0002c0001t0057g0188	2	410	0.0049	26	c.-13 others(37): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0090 a0002c0002t0034g0090	1	294	0.0034	26	c.169 others(43): Show c.1698-170_1698-169insAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(19): Show GGAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02273.hp2 HG01261.hp1 HG02273.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0041 a0002c0008t0003 a0002c0008t0041	a0002c0008t0003g0020 a0002c0008t0041g0017 a0002c0008t0003g0020 a0002c0008t0041g0017	2	294	0.0068	26	c.169 others(43): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	352	0.0028	26	c.-12 others(43): Show c.-12+1974_-12+1975insGGGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18964.hp1 NA18982.hp2 HG00323.hp2 NA18964.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0238 a0001c0001t0001g0297 a0001c0004t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0297 a0001c0004t0001g0237	3	352	0.0085	26	c.-12 others(43): Show c.-12+1949_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG03540.hp2 others(3): Show HG00741.hp1 HG01891.hp2 HG03540.hp2 NA19005.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0007 a0001c0002 a0001c0004 a0002c0007	a0001c0002t0002 a0001c0002t0008 a0001c0004t0001 others(1): Show a0001c0002t0002 a0001c0002t0008 a0001c0004t0001 a0002c0007t0002	a0001c0002t0002g0031 a0001c0002t0002g0065 a0001c0002t0002g0075 others(3): Show a0001c0002t0002g0031 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0008g0076 a0001c0004t0001g0064 a0002c0007t0002g0077	6	352	0.0171	26	c.-12 others(43): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	384	0.0026	26	c.104 others(41): Show c.104-437_104-412dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03195.hp1 NA20905.hp1 HG01168.hp1 HG03195.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0355 a0002c0002t0002g0005 a0002c0002t0002g0355	3	384	0.0078	26	c.960 others(43): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	384	0.0026	26	c.137 others(45): Show c.1378-1522_1378-1497dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGCG others(19): Show TGTGTGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	346	0.0029	26	c.260 others(43): Show c.260-1750_260-1749insTGTGCGCGCGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	310	0.0032	26	c.369 others(45): Show c.369+19995_369+19996insACACACACACACACACACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02135.hp2 HG02257.hp1 others(8): Show HG00609.hp2 HG02135.hp2 HG02257.hp1 HG02273.hp2 HG02630.hp2 NA18955.hp2 NA18980.hp2 NA18994.hp2 NA19058.hp2 NA19077.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0128 a0001c0001t0001g0160 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0128 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205	11	310	0.0355	26	c.369 others(45): Show c.369+19970_369+19995dupACACACACACACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	26	c.412 others(45): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03209.hp2 HG03540.hp2 others(2): Show HG02886.hp2 HG03209.hp2 HG03540.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0001 a0001c0007t0001 a0002c0002t0001	a0001c0007t0001g0029 a0001c0007t0001g0146 a0001c0007t0001g0148 others(1): Show a0001c0007t0001g0029 a0001c0007t0001g0146 a0001c0007t0001g0148 a0002c0002t0001g0111	5	418	0.0120	26	c.34 others(37): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	ATATATAT others(19): Show ATATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	334	0.0030	26	c.54- others(41): Show c.54-6047_54-6046insATATATATATATATTATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	334	0.0030	26	c.54- others(41): Show c.54-6049_54-6048insATATATATATATATATATTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0076 a0002c0002t0011g0076	1	334	0.0030	26	c.54- others(41): Show c.54-6049_54-6048insATATATATATATATATATATTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(19): Show CCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0039 a0001c0003t0020g0039	1	334	0.0030	26	c.53+ others(41): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD4_chr12_6565082_6612379	6565149	G G	GCAGTTAT others(19): Show GCAGTTATTTTTTTTTTTTTTTTTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0105 a0001c0003t0003g0105	1	374	0.0027	26	c.55 others(37): Show c.5501_*5526dupTCAAAAAAAAAAAAAAAAAATAACTG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		4932		chr12	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0144 a0001c0001t0001g0074 a0001c0001t0001g0144	2	324	0.0062	26	c.612 others(43): Show c.6127+928_6127+953dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60821645	T T	TATATATA others(19): Show TATATATACATATGTATATGTATAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0160 a0001c0007t0035g0160	1	236	0.0042	26	c.269 others(43): Show c.2698-136_2698-135insTATGTATATGTATAAACATATATACA	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02683.hp2 HG02965.hp2 others(1): Show HG02559.hp2 HG02683.hp2 HG02965.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0043 a0001c0001t0001g0119 a0003c0004t0001g0143 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0119 a0003c0004t0001g0143 a0003c0004t0001g0148	4	238	0.0168	26	c.-16 others(45): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(19): Show GTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18970.hp2 NA19084.hp2 HG01257.hp2 NA18970.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0179 a0001c0003t0002g0002 a0001c0003t0002g0015 a0001c0001t0001g0179 a0001c0003t0002g0002 a0001c0003t0002g0015	3	238	0.0126	26	c.-16 others(45): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTGT others(19): Show GTATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	238	0.0042	26	c.-16 others(45): Show c.-164-9504_-164-9503insGTGTATATATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146436	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0183 a0001c0001t0003g0172 a0001c0001t0003g0183	2	238	0.0084	26	c.-16 others(45): Show c.-164-9489_-164-9488insTATATATATATATATATATATATAAA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHL1_chr3_191763_414417	322646	A A	ATATATAT others(19): Show ATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	290	0.0035	26	c.91+ others(41): Show c.91+2796_91+2821dupTATATATAATTATATATATATATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	322653	T T	TATATATA others(19): Show TATATATATTTTATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0017 a0020c0023t0017	a0020c0023t0017g0287 a0020c0023t0017g0287	1	290	0.0035	26	c.91+ others(41): Show c.91+2794_91+2795insTTTATATATATATATAAAATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	2	438	0.0046	26	c.-29 others(37): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01516.hp1 HG01975.hp1 others(7): Show HG01257.hp2 HG01516.hp1 HG01975.hp1 HG01993.hp2 HG02723.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0213 a0001c0001t0007g0076	10	245	0.0408	26	c.83 others(37): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0237 a0001c0001t0004g0211 a0001c0001t0004g0237	2	245	0.0082	26	c.177 others(45): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATA others(19): Show TATATATATGTATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0077 a0001c0001t0007g0077	1	245	0.0041	26	c.124 others(43): Show c.1244+108_1244+109insTCATATATATATATATACATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19006.hp1 NA19240.hp2 HG02886.hp2 NA19006.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0086 a0001c0001t0001g0209 a0001c0001t0008g0193 a0001c0001t0001g0086 a0001c0001t0001g0209 a0001c0001t0008g0193	3	245	0.0122	26	c.116 others(45): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01074.hp1 others(7): Show HG00323.hp1 HG00544.hp1 HG01074.hp1 HG01255.hp1 HG02132.hp1 HG02155.hp2 HG03041.hp1 HG03225.hp1 NA18988.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0001t0001g0129 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0191 a0001c0001t0003g0089 a0001c0001t0003g0119	10	245	0.0408	26	c.116 others(45): Show c.1166+6149_1166+6174dupATATATATATATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981204	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0234 a0003c0004t0014g0234	1	245	0.0041	26	c.189 others(41): Show c.189+532_189+533insTATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02559.hp2 others(3): Show HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02723.hp1 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0213 a0001c0001t0004g0237 a0001c0001t0007g0076 others(3): Show a0001c0001t0001g0213 a0001c0001t0004g0237 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0011g0219 a0001c0001t0012g0224	6	245	0.0245	26	c.189 others(41): Show c.189+530_189+531insTATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar

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