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
CFDP1_chr16_75288710_75438503	75297195	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	314	0.0032	13	c.810 others(30): Show c.810-3154_810-3153insCACACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75301536	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	314	0.0032	13	c.809 others(30): Show c.809+3475_809+3487dupAAAAAAAAAAAAA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349666	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	314	0.0032	13	c.651 others(32): Show c.651-44485_651-44484insATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349678	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	314	0.0032	13	c.651 others(32): Show c.651-44497_651-44496insATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03540.hp2 HG01109.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0169 a0001c0001t0001g0150 a0001c0001t0002g0169	2	314	0.0064	13	c.651 others(32): Show c.651-44501_651-44500insATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02738.hp1 HG01169.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0163 a0001c0001t0002g0173	2	314	0.0064	13	c.651 others(32): Show c.651-44507_651-44506insATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	308	0.0033	13	c.58+ others(28): Show c.58+6242_58+6254dupTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196689262	T T	TATGAGAT others(6): Show TATGAGATATAGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0078 a0004c0004t0001g0078	1	308	0.0033	13	c.965 others(28): Show c.965-158_965-157insATGAGATATAGAA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	7/21			chr1	TogoVar
CFI_chr4_109735695_109806999	109753612	T T	TATATAAT others(6): Show TATATAATGTATAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0304 a0003c0004t0001g0304	1	354	0.0028	13	c.905 others(30): Show c.905-1110_905-1109insTTATACATTATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753612	T T	TATCTAAT others(6): Show TATCTAATGTATAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02615.hp2 HG02622.hp1 others(8): Show HG02027.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0270 a0001c0001t0001g0328 a0001c0001t0001g0330 others(8): Show a0001c0001t0001g0270 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0329 a0001c0001t0002g0346 a0001c0002t0001g0135	11	354	0.0311	13	c.905 others(30): Show c.905-1110_905-1109insTTATACATTAGAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114047	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA20752.hp1 HG02717.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0064 a0001c0002t0021 a0001c0001t0064 a0001c0002t0021	a0001c0001t0064g0044 a0001c0002t0021g0066 a0001c0001t0064g0044 a0001c0002t0021g0066	2	234	0.0086	13	c.-25 others(24): Show c.-2572_-2571insATATATATATATA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2116		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201127583	T T	TTATTCGG others(6): Show TTATTCGGACCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0194 a0001c0005t0024g0194	1	234	0.0043	13	c.-13 others(32): Show c.-137-2145_-137-2133dupTATTCGGACCCCA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CGAS_chr6_73418711_73457297	73449508	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0062 a0001c0002t0013g0062	1	410	0.0024	13	c.657 others(30): Show c.657+2016_657+2017insTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0134 a0002c0001t0001g0134	1	410	0.0024	13	c.-13 others(24): Show c.-1388_-1387insAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGB7_chr19_49049274_49062749	49060036	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	422	0.0024	13	c.-39 others(24): Show c.-3924_-3923insTTTTTTTTTTTTT	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		2288		chr19	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG03130.hp1 NA18967.hp1 others(1): Show HG00673.hp2 HG03130.hp1 NA18967.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0030g0040 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0030g0040	4	358	0.0112	13	c.51 others(24): Show c.5128_*5129insAAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57383292	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02723.hp1 others(8): Show HG02055.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp2 NA18522.hp1 NA18941.hp2 NA19043.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0009 a0014 a0015 a0019 a0023 a0028	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0008c0010 a0009c0014 a0014c0016 a0015c0035 a0019c0030 a0023c0029 a0028c0021	a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 others(8): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 a0003c0003t0004 a0008c0010t0005 a0009c0014t0006 a0014c0016t0001 a0015c0035t0012 a0019c0030t0005 a0023c0029t0009 a0028c0021t0008	a0001c0001t0001g0127 a0002c0002t0003g0265 a0002c0002t0007g0006 others(8): Show a0001c0001t0001g0127 a0002c0002t0003g0265 a0002c0002t0007g0006 a0003c0003t0004g0290 a0008c0010t0005g0048 a0009c0014t0006g0292 a0014c0016t0001g0008 a0015c0035t0012g0284 a0019c0030t0005g0293 a0023c0029t0009g0289 a0028c0021t0008g0007	11	294	0.0374	13	c.-16 others(30): Show c.-16+6726_-16+6738dupTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0160 a0001c0001t0019g0160	1	294	0.0034	13	c.-16 others(32): Show c.-16+17537_-16+17538insTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57405772	C C	CTCCTTTC others(6): Show CTCCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	294	0.0034	13	c.-16 others(32): Show c.-16+29207_-16+29208insCTTTCTTTCTTTC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0285 a0002c0002t0029g0285	1	294	0.0034	13	c.169 others(30): Show c.1698-182_1698-170dupAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19074.hp1 HG00438.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0072 a0001c0001t0001g0089	2	382	0.0052	13	c.189 others(30): Show c.1896+844_1896+845insATATATATTTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27099978	T T	TGGCAGCT others(6): Show TGGCAGCTTCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01106.hp2 others(20): Show HG00639.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0011t0002	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0150 others(18): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0319 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0008g0076 a0001c0002t0008g0082 a0001c0011t0002g0145	23	352	0.0653	13	c.12 others(24): Show c.1295_*1296insGACAGAAGCTGCC	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding		615		chr2	TogoVar
CGREF1_chr2_27095594_27124128	27099978	T T	TGTCAGCT others(6): Show TGTCAGCTTCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	352	0.0028	13	c.12 others(24): Show c.1295_*1296insGACAGAAGCTGAC	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding		615		chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	352	0.0028	13	c.-12 others(30): Show c.-12+1974_-12+1975insGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	352	0.0028	13	c.-12 others(30): Show c.-12+1922_-12+1923insAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	352	0.0028	13	c.-12 others(30): Show c.-12+1921_-12+1922insGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01943.hp2 others(11): Show HG00733.hp1 HG01074.hp1 HG01943.hp2 HG02257.hp1 HG02559.hp1 HG02698.hp2 HG02896.hp2 HG02897.hp1 NA18941.hp2 NA18971.hp1 NA18980.hp2 NA18998.hp1 NA19056.hp2 NA19076.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0007t0001 a0005c0006t0002 a0001c0001t0001 a0001c0007t0001 a0005c0006t0002	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(11): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0007t0001g0201 a0005c0006t0002g0358 a0005c0006t0002g0359	14	384	0.0365	13	c.104 others(28): Show c.104-424_104-412dupTTTTTTTTTTTTT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG01167.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp1	a0005 a0012 a0005 a0012	a0005c0006 a0012c0019 a0005c0006 a0012c0019	a0005c0006t0002 a0012c0019t0002 a0005c0006t0002 a0012c0019t0002	a0005c0006t0002g0358 a0005c0006t0002g0359 a0005c0006t0002g0360 others(1): Show a0005c0006t0002g0358 a0005c0006t0002g0359 a0005c0006t0002g0360 a0012c0019t0002g0362	4	384	0.0104	13	c.960 others(30): Show c.960+1894_960+1906dupTTTTTTTTTTTTT	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00673.hp1 others(5): Show HG00099.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 NA18945.hp1 NA18980.hp2 NA18989.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0184 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0249 a0001c0001t0001g0270	8	384	0.0208	13	c.137 others(32): Show c.1378-1509_1378-1497dupTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD3_chr7_132779870_133087090	132781412	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp1 NA19043.hp1 HG02622.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0248 a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0248	3	310	0.0097	13	c.42 others(24): Show c.4224_*4225insTTTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding		3457		chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132919100	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	310	0.0032	13	c.370 others(32): Show c.370-33368_370-33356dupAAAAAAAAAAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132965086	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	310	0.0032	13	c.369 others(32): Show c.369+10082_369+10083insCACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	216	0.0046	13	c.412 others(32): Show c.412-28078_412-28066dupAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863107	T T	TCCCCCCA others(6): Show TCCCCCCACTGTCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	216	0.0046	13	c.495 others(32): Show c.495+10379_495+10380insCCCCACTGTCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863109	C C	CCCCACTG others(6): Show CCCCACTGTCACCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19030.hp1 NA18998.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0195 a0002c0002t0001g0063 a0001c0001t0001g0195 a0002c0002t0001g0063	2	216	0.0093	13	c.495 others(32): Show c.495+10379_495+10380insCCCACTGTCACCA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHD1L_chr1_147237684_147300762	147298999	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0196 a0016c0025t0001g0196	1	418	0.0024	13	c.34 others(24): Show c.3490_*3491insGTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3238		chr1	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02083.hp2 NA19055.hp2 HG01361.hp1 HG02083.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0003 a0001c0001t0003 a0001c0010t0003	a0001c0001t0003g0232 a0001c0010t0003g0014 a0001c0010t0003g0222 a0001c0001t0003g0232 a0001c0010t0003g0014 a0001c0010t0003g0222	3	418	0.0072	13	c.34 others(24): Show c.3491_*3492insTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98883862	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	334	0.0030	13	c.256 others(30): Show c.2569-626_2569-625insTATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01943.hp1 HG02004.hp1 HG01081.hp1 HG01943.hp1 HG02004.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0005c0010t0001g0251 a0001c0001t0001g0246 a0001c0001t0001g0247 a0005c0010t0001g0251	3	334	0.0090	13	c.54- others(28): Show c.54-6047_54-6046insATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02630.hp2 HG01257.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0252 a0001c0001t0001g0236 a0001c0001t0001g0252	2	334	0.0060	13	c.54- others(28): Show c.54-6049_54-6048insATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02074.hp2 HG04228.hp1 others(2): Show HG01884.hp1 HG02074.hp2 HG04228.hp1 NA19057.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0288 a0001c0001t0003g0313 a0001c0001t0003g0314	5	334	0.0150	13	c.53+ others(28): Show c.53+9034_53+9035insTTTTTTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(6): Show CCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03688.hp1 HG00323.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0191 a0001c0003t0009g0225 a0001c0003t0009g0191 a0001c0003t0009g0225	2	334	0.0060	13	c.53+ others(28): Show c.53+9034_53+9035insTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD2_chr15_92895324_93032996	93016779	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04115.hp2 NA18522.hp1 others(1): Show HG03453.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0200 a0001c0002t0002g0045 a0001c0002t0002g0046 others(1): Show a0001c0001t0001g0200 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0232	4	306	0.0131	13	c.490 others(32): Show c.4906+1873_4906+1885dupAAAAAAAAAAAAA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	37/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG02148.hp1 others(2): Show HG01346.hp2 HG01361.hp1 HG02148.hp1 HG02735.hp2 HG04184.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0006 a0006c0009 a0001c0001 a0003c0006 a0006c0009	a0001c0001t0002 a0003c0006t0002 a0006c0009t0002 a0001c0001t0002 a0003c0006t0002 a0006c0009t0002	a0001c0001t0002g0242 a0001c0001t0002g0259 a0003c0006t0002g0194 others(2): Show a0001c0001t0002g0242 a0001c0001t0002g0259 a0003c0006t0002g0194 a0006c0009t0002g0201 a0006c0009t0002g0209	5	324	0.0154	13	c.612 others(30): Show c.6127+941_6127+953dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41431776	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG02965.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0009g0073	5	324	0.0154	13	c.406 others(32): Show c.4068+5485_4068+5497dupAAAAAAAAAAAAA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41432160	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0001 a0019c0027t0001	a0019c0027t0001g0317 a0019c0027t0001g0317	1	324	0.0031	13	c.406 others(32): Show c.4068+5101_4068+5113dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp1 HG02258.hp2 others(5): Show HG00673.hp1 HG01361.hp1 HG02258.hp2 HG02486.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0006c0009t0002	a0001c0001t0002g0243 a0001c0002t0001g0053 a0001c0002t0001g0054 others(5): Show a0001c0001t0002g0243 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0152 a0001c0002t0001g0177 a0001c0003t0001g0289 a0001c0003t0001g0318 a0006c0009t0002g0209	8	324	0.0247	13	c.853 others(30): Show c.853-4733_853-4721dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41535546	A A	ATGATGGA others(6): Show ATGATGGAACTTGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	324	0.0031	13	c.34- others(28): Show c.34-1989_34-1977dupCCAAGTTCCATCA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	2/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41579437	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02486.hp1 HG02970.hp1 others(7): Show HG01361.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp1 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA19058.hp1 NA19084.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009 a0010c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0006c0009t0002 a0010c0021t0001	a0001c0001t0001g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 others(7): Show a0001c0001t0001g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0002t0001g0052 a0001c0002t0001g0170 a0001c0002t0001g0187 a0001c0002t0001g0268 a0001c0003t0001g0318 a0006c0009t0002g0209 a0010c0021t0001g0248	10	324	0.0309	13	c.-23 others(32): Show c.-23-28090_-23-28078dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
CHD8_chr14_21380199_21461123	21380296	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02615.hp1 others(2): Show HG01167.hp2 HG02145.hp1 HG02615.hp1 HG03654.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0218 a0001c0001t0003g0242 a0002c0002t0001g0099 others(2): Show a0001c0001t0003g0218 a0001c0001t0003g0242 a0002c0002t0001g0099 a0002c0002t0001g0108 a0002c0002t0001g0118	5	260	0.0192	13	c.53 others(24): Show c.5304_*5316dupAAAAAAAAAAAAA	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding		4902		chr14	TogoVar

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