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
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0090 a0002c0007t0002g0090	1	352	0.0028	19	c.-12 others(36): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54513627	T T	TTATGTTA others(12): Show TTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG01433.hp2 others(33): Show HG01099.hp1 HG01255.hp2 HG01433.hp2 HG01943.hp1 HG01993.hp1 HG02015.hp1 HG02165.hp2 HG02559.hp1 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG04184.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18953.hp1 NA18961.hp1 NA18963.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA19007.hp2 NA19059.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0013 others(21): Show a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0038 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0211 a0002c0002t0002g0212	36	338	0.1065	19	c.104 others(36): Show c.104+3577_104+3578insGTTATGTATGTTATGTTAT	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4400572	G G	GCCGGCCC others(12): Show GCCGGCCCCCGCGCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0320 a0001c0003t0003g0320	1	384	0.0026	19	c.-21 others(30): Show c.-2191_-2190insCCGGCCCCCGCGCGCGCCC	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding		2067		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4400584	G G	GCGCGCCC others(12): Show GCGCGCCCCCGGCCCCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02818.hp1 HG02896.hp2 others(5): Show HG01167.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp2	a0005 a0012 a0005 a0012	a0005c0006 a0005c0018 a0012c0019 a0005c0006 a0005c0018 a0012c0019	a0005c0006t0002 a0005c0018t0002 a0012c0019t0002 a0005c0006t0002 a0005c0018t0002 a0012c0019t0002	a0005c0006t0002g0356 a0005c0006t0002g0357 a0005c0006t0002g0358 others(5): Show a0005c0006t0002g0356 a0005c0006t0002g0357 a0005c0006t0002g0358 a0005c0006t0002g0359 a0005c0006t0002g0360 a0005c0006t0002g0361 a0005c0018t0002g0363 a0012c0019t0002g0362	8	384	0.0208	19	c.-21 others(30): Show c.-2179_-2178insCGCGCCCCCGGCCCCCGCA	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding		2055		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19054.hp1 NA19060.hp2 HG02109.hp2 NA19054.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0218 a0001c0001t0001g0219 a0003c0004t0002g0340 a0001c0001t0001g0218 a0001c0001t0001g0219 a0003c0004t0002g0340	3	384	0.0078	19	c.104 others(34): Show c.104-430_104-412dupTTTTTTTTTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00621.hp1 others(33): Show HG00280.hp2 HG00323.hp1 HG00621.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG02083.hp1 HG02148.hp1 HG02280.hp1 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp2 HG03492.hp1 HG03834.hp2 HG04199.hp2 NA18944.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18975.hp1 NA18982.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19076.hp2 NA21309.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0009c0024 a0011c0017	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0003t0003 a0001c0003t0008 a0002c0002t0002 a0009c0024t0002 a0011c0017t0002	a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0004g0327 others(30): Show a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0004g0327 a0001c0001t0010g0119 a0001c0003t0003g0013 a0001c0003t0003g0278 a0001c0003t0003g0280 a0001c0003t0003g0306 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0008g0312 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0088 a0002c0002t0002g0091 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0110 a0009c0024t0002g0102 a0011c0017t0002g0090	36	384	0.0938	19	c.960 others(36): Show c.960+1888_960+1906dupTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAMP1_chr13_114309503_114332322	114320472	C C	CCATTGTT others(12): Show CCATTGTTATAGTCAGTAGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	414	0.0024	19	c.-17 others(36): Show c.-178-635_-178-617dupTTGTTATAGTCAGTAGTCA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAMP1_chr13_114309503_114332322	114320955	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp1 HG02258.hp1 others(4): Show HG01069.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0148 a0001c0002t0003g0149 others(3): Show a0001c0002t0003g0049 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0153	7	414	0.0169	19	c.-17 others(36): Show c.-178-142_-178-141insAAAAAAAAAAAAAAAAAAA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	310	0.0032	19	c.369 others(38): Show c.369+19995_369+19996insACACACACACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126792225	T T	TTAGAATA others(12): Show TTAGAATATATATTCTAATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0088 a0001c0001t0001g0114	2	216	0.0093	19	c.411 others(38): Show c.411+59033_411+59051dupATTCTAATATAGAATATAT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG02622.hp2 others(4): Show HG01081.hp2 HG02622.hp1 HG02622.hp2 HG02965.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0167 a0001c0001t0001g0200 a0001c0001t0001g0213	7	216	0.0324	19	c.412 others(38): Show c.412-28084_412-28066dupAAAAAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02602.hp1 HG03688.hp1 others(1): Show HG01106.hp1 HG02602.hp1 HG03688.hp1 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0112 a0002c0002t0001g0133 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0112 a0002c0002t0001g0133 a0002c0002t0001g0136	4	418	0.0096	19	c.34 others(30): Show c.3491_*3492insCTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG03486.hp1 HG02523.hp1 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0021 a0001c0001 a0005c0021	a0001c0001t0003 a0005c0021t0001 a0001c0001t0003 a0005c0021t0001	a0001c0001t0003g0015 a0005c0021t0001g0064 a0001c0001t0003g0015 a0005c0021t0001g0064	2	418	0.0048	19	c.34 others(30): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911142	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03491.hp2 HG01192.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0231 a0001c0001t0001g0233	2	334	0.0060	19	c.54- others(34): Show c.54-6045_54-6044insATATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02922.hp1 NA19011.hp1 others(1): Show HG02273.hp1 HG02922.hp1 NA19011.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0299 others(1): Show a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0299 a0002c0002t0005g0016	4	334	0.0120	19	c.54- others(34): Show c.54-6047_54-6046insATATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	334	0.0030	19	c.54- others(34): Show c.54-6049_54-6048insATATATATATATATTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	334	0.0030	19	c.54- others(34): Show c.54-6049_54-6048insATATATATATATATATATT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	334	0.0030	19	c.54- others(34): Show c.54-6049_54-6048insATATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(12): Show CCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0051 a0001c0003t0028g0051	1	334	0.0030	19	c.53+ others(34): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD5_chr1_6096787_6185321	6132880	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0059 a0001c0009t0014g0059	1	320	0.0031	19	c.314 others(38): Show c.3145-1133_3145-1132insGAGAGAGAGAGAGAGAGAG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	20/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6174975	A A	ATGGATGG others(12): Show ATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0005 a0001c0021t0005	a0001c0021t0005g0026 a0001c0021t0005g0027 a0001c0021t0005g0026 a0001c0021t0005g0027	2	320	0.0063	19	c.79+ others(34): Show c.79+4951_79+4969dupCCATCCATCCATCCATCCA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19063.hp2 HG03239.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0011 a0001c0001t0001g0043	2	324	0.0062	19	c.612 others(36): Show c.6127+935_6127+953dupTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	324	0.0031	19	c.853 others(36): Show c.853-4739_853-4721dupTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18977.hp2 HG03669.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0029 a0001c0003t0008 a0001c0003t0029	a0001c0003t0008g0144 a0001c0003t0029g0032 a0001c0003t0008g0144 a0001c0003t0029g0032	2	392	0.0051	19	c.70 others(30): Show c.7000_*7018dupTTTTTTTTTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18945.hp1 HG00735.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0348 a0001c0001t0001g0180 a0001c0001t0001g0348	2	384	0.0052	19	c.100 others(38): Show c.1009-1260_1009-1242dupTTTTTTTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0001 a0001c0001t0028 a0002c0002t0001	a0001c0001t0028g0232 a0002c0002t0001g0286 a0001c0001t0028g0232 a0002c0002t0001g0286	2	290	0.0069	19	c.-17 others(38): Show c.-174-5018_-174-5017insTATATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01978.hp1 HG02258.hp1 HG01361.hp2 HG01978.hp1 HG02258.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0043 a0002c0002t0007 a0005c0005t0003 a0001c0001t0043 a0002c0002t0007 a0005c0005t0003	a0001c0001t0043g0166 a0002c0002t0007g0244 a0005c0005t0003g0257 a0001c0001t0043g0166 a0002c0002t0007g0244 a0005c0005t0003g0257	3	290	0.0103	19	c.385 others(36): Show c.385+4778_385+4779insTTTTTTTTTTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP5_chr9_33260049_33287070	33265782	T T	TCCCTCTG others(12): Show TCCCTCTGCTTCGGTGTTTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	328	0.0031	19	c.70- others(32): Show c.70-228_70-227insCCCTCTGCTTCGGTGTTTC	CHMP5	ENSG00000086065.14	transcript	ENST00000223500.9	protein_coding	1/7			chr9	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	245	0.0041	19	c.83 others(30): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85913328	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0145 a0001c0001t0015g0145	1	245	0.0041	19	c.116 others(38): Show c.1167-1991_1167-1990insCTTTCTTTCTTTCTTTCTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03516.hp1 NA18962.hp1 HG00544.hp2 HG03516.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0112 a0001c0001t0003g0013 a0001c0001t0001g0014 a0001c0001t0001g0112 a0001c0001t0003g0013	3	245	0.0122	19	c.116 others(38): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	276	0.0036	19	c.550 others(34): Show c.550-835_550-817dupTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174967876	G G	GTAGCACT others(12): Show GTAGCACTGACCTACTTGGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	276	0.0036	19	c.20- others(36): Show c.20-15693_20-15675dupTCCAAGTAGGTCAGTGCTA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03834.hp2 NA18942.hp2 HG02273.hp1 HG03834.hp2 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0004 a0001c0001t0003 a0002c0003t0004	a0001c0001t0003g0057 a0002c0003t0004g0099 a0002c0003t0004g0203 a0001c0001t0003g0057 a0002c0003t0004g0099 a0002c0003t0004g0203	3	232	0.0129	19	c.49+ others(36): Show c.49+38843_49+38861dupTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02074.hp2 HG03491.hp2 others(2): Show HG00642.hp2 HG02074.hp2 HG03491.hp2 NA18991.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0011 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0004 a0002c0004t0001	a0001c0001t0003g0106 a0001c0001t0011g0073 a0001c0002t0004g0118 others(2): Show a0001c0001t0003g0106 a0001c0001t0011g0073 a0001c0002t0004g0118 a0001c0002t0004g0216 a0002c0004t0001g0059	5	232	0.0216	19	c.49+ others(36): Show c.49+57598_49+57616dupTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29437597	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0060 a0001c0002t0027g0060	1	232	0.0043	19	c.576 others(38): Show c.576+36785_576+36786insAAAAAAAAAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	232	0.0043	19	c.577 others(38): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29473482	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTTTGTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	232	0.0043	19	c.577 others(36): Show c.577-6797_577-6796insGTGTGTGTGTGTGTTTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12			chr7	TogoVar
CHN2_chr7_29189775_29519328	29473482	T T	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTTTGTG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0094 a0002c0004t0007g0094	1	232	0.0043	19	c.577 others(36): Show c.577-6796_577-6795insTGTGTGTGTGTGTTTGTGT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTCT others(12): Show CTTCTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	19	c.17 others(30): Show c.1798_*1799insTTCTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRM1_chr11_62903679_62926363	62924629	G G	GCTCTCTC others(12): Show GCTCTCTCTCTCTCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	420	0.0024	19	c.-34 others(30): Show c.-3491_-3490insAGGAGAGAGAGAGAGAGAG	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3267		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136867924	G G	GATATATA others(12): Show GATATATATATATTCTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	320	0.0031	19	c.-13 others(30): Show c.-1351_-1350insATATATATATATTCTGGAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		727		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136921790	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18975.hp1 NA19002.hp2 NA18939.hp2 NA18975.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0002t0005 a0001c0001t0003 a0001c0001t0010 a0001c0002t0005	a0001c0001t0003g0273 a0001c0001t0010g0026 a0001c0002t0005g0030 a0001c0001t0003g0273 a0001c0001t0010g0026 a0001c0002t0005g0030	3	320	0.0094	19	c.-12 others(40): Show c.-125+52375_-125+52376insTTTTTTTTTTTTTTTTTTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136930898	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	320	0.0031	19	c.-12 others(40): Show c.-124-61278_-124-61260dupAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136949459	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp2 HG02970.hp1 others(2): Show HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 others(1): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0078	a0001c0001t0013g0068 a0001c0001t0013g0247 a0001c0001t0014g0071 others(2): Show a0001c0001t0013g0068 a0001c0001t0013g0247 a0001c0001t0014g0071 a0001c0001t0021g0045 a0001c0001t0078g0095	5	320	0.0156	19	c.-12 others(40): Show c.-124-42727_-124-42709dupAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383379	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0101 a0001c0001t0016g0101	1	116	0.0086	19	c.-43 others(30): Show c.-4369_-4368insTTTCTTTCTTTCTTTCTTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3188		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385818	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG01109.hp2 others(17): Show HG00438.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01981.hp2 HG02083.hp1 HG02738.hp2 HG02970.hp1 HG02970.hp2 HG03540.hp1 HG03831.hp1 NA18939.hp2 NA18943.hp1 NA19012.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0059	a0001c0001t0001g0058 a0001c0001t0002g0037 a0001c0001t0002g0051 others(17): Show a0001c0001t0001g0058 a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0002g0074 a0001c0001t0003g0057 a0001c0001t0004g0016 a0001c0001t0004g0030 a0001c0001t0004g0064 a0001c0001t0005g0041 a0001c0001t0007g0060 a0001c0001t0010g0031 a0001c0001t0015g0033 a0001c0001t0015g0063 a0001c0001t0017g0050 a0001c0001t0018g0042 a0001c0001t0019g0040 a0001c0001t0028g0017 a0001c0001t0029g0090 a0001c0001t0032g0086 a0001c0001t0059g0062	20	116	0.1724	19	c.-19 others(30): Show c.-1930_-1929insTTCTTTCTTTCTTTCTTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		749		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239441725	G G	GACTTTCT others(12): Show GACTTTCTCAGGTGGTTAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG02615.hp2 others(5): Show HG01106.hp1 HG01243.hp2 HG02615.hp2 HG02723.hp2 HG02922.hp2 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0020 a0001c0001t0046 a0001c0001t0056 a0004c0003t0053	a0001c0001t0003g0039 a0001c0001t0004g0035 a0001c0001t0005g0053 others(5): Show a0001c0001t0003g0039 a0001c0001t0004g0035 a0001c0001t0005g0053 a0001c0001t0013g0078 a0001c0001t0020g0036 a0001c0001t0046g0100 a0001c0001t0056g0079 a0004c0003t0053g0099	8	116	0.0690	19	c.-52 others(40): Show c.-520-50984_-520-50983insACTTTCTCAGGTGGTTAAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6			chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874299	A A	ATATATAT others(12): Show ATATATATCTATATACACAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	116	0.0086	19	c.-19 others(38): Show c.-19-33127_-19-33126insCTATATACACAGTATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM5_chr15_33963497_34072458	34053319	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	338	0.0030	19	c.-76 others(36): Show c.-76+6448_-76+6449insTATATATATATATATATAT	CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	2/2			chr15	TogoVar

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