JoGo: Joint Open Genome and Omics Platform

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
CHN1_chr2_174793809_175010381	174807446	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	276	0.0036	26	c.110 others(45): Show c.1102+1433_1102+1458dupCACACACACACACACACACACACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	11/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	276	0.0036	26	c.550 others(41): Show c.550-842_550-817dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	232	0.0043	26	c.49+ others(39): Show c.49+640_49+641insAGAGAGAGAGAGAGTGTGTGTGTGTG	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(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG01952.hp2 others(2): Show HG01167.hp1 HG01517.hp1 HG01952.hp2 NA18957.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0213 a0001c0001t0005g0133 a0001c0001t0006g0144 others(2): Show a0001c0001t0001g0213 a0001c0001t0005g0133 a0001c0001t0006g0144 a0001c0001t0007g0022 a0001c0002t0002g0177	5	232	0.0216	26	c.49+ others(43): Show c.49+57591_49+57616dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273347	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0113 a0002c0004t0006g0113	1	232	0.0043	26	c.49+ others(43): Show c.49+78380_49+78381insGTGTATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273349	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01952.hp2 NA18957.hp2 others(3): Show HG00438.hp2 HG01952.hp2 NA18957.hp2 NA18970.hp1 NA19012.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0005t0005 a0002c0003t0004	a0001c0001t0003g0032 a0001c0001t0006g0144 a0001c0002t0002g0083 others(3): Show a0001c0001t0003g0032 a0001c0001t0006g0144 a0001c0002t0002g0083 a0001c0002t0002g0177 a0001c0005t0005g0151 a0002c0003t0004g0110	6	232	0.0259	26	c.49+ others(43): Show c.49+78382_49+78383insGTGTATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273351	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02257.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0076 a0001c0002t0005g0218 a0001c0001t0001g0076 a0001c0002t0005g0218	2	232	0.0086	26	c.49+ others(43): Show c.49+78384_49+78385insGTGTATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273355	A A	ATATATAT others(19): Show ATATATATATATATATATATGTGTATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0055 a0001c0001t0012g0056 a0001c0001t0012g0055 a0001c0001t0012g0056	2	232	0.0086	26	c.49+ others(43): Show c.49+78384_49+78385insGTGTATGTATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG03453.hp1 others(3): Show HG02258.hp1 HG02615.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014 a0002c0004t0012	a0001c0001t0001g0015 a0001c0001t0006g0153 a0001c0002t0002g0163 others(3): Show a0001c0001t0001g0015 a0001c0001t0006g0153 a0001c0002t0002g0163 a0001c0002t0014g0019 a0001c0002t0014g0067 a0002c0004t0012g0180	6	232	0.0259	26	c.577 others(45): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29512182	A A	AAAAAAAA others(19): Show AAAAAAAAAAAGCCTTCTGTATAAGGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0152 a0001c0002t0007g0152	1	232	0.0043	26	c.123 others(43): Show c.1236-373_1236-372insAGCCTTCTGTATAAGGCAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18251630	A A	ATTTATTT others(19): Show ATTTATTTTAATATATAAAATATTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0094 a0001c0001t0007g0094	1	402	0.0025	26	c.80- others(41): Show c.80-4872_80-4871insTAATATATAAAATATTTATTTTATTT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759379	C C	CCTTCTTC others(19): Show CCTTCTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	392	0.0026	26	c.17 others(37): Show c.1796_*1797insCTTCTTCTTTCTTTCTTTCTTTCTTT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		445		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689606	C C	CTATATAT others(19): Show CTATATATCTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00639.hp1 others(62): Show HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01255.hp1 HG01256.hp1 HG01928.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02602.hp1 HG02735.hp1 HG03017.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19060.hp1 NA19066.hp1 NA19075.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0005g0067 a0001c0001t0005g0080 a0001c0001t0005g0094 a0001c0001t0005g0100 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0148 a0001c0001t0009g0058 a0001c0001t0009g0087 a0001c0001t0009g0093 a0001c0001t0013g0132 a0001c0001t0013g0142 a0001c0001t0013g0149 a0001c0001t0014g0098 a0001c0001t0014g0130 a0001c0001t0015g0066 a0001c0001t0015g0163 a0001c0001t0016g0092 a0001c0001t0016g0101 a0001c0001t0017g0048 a0001c0001t0017g0118 a0001c0001t0018g0115 a0001c0001t0018g0135 a0001c0001t0024g0155 a0001c0001t0025g0116 a0001c0001t0028g0091 a0001c0001t0029g0138 a0001c0001t0030g0065 a0001c0001t0032g0119 a0001c0001t0033g0106 a0001c0001t0035g0045 a0001c0001t0037g0047 a0001c0001t0040g0044	65	172	0.3779	26	c.779 others(41): Show c.779-829_779-804dupTAGATATATAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689789	A A	CTCTATAT others(19): Show CTCTATATATCTATATATCTATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19079.hp1 NA19088.hp1 NA19005.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0013g0132 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0013g0132	3	172	0.0174	26	c.779 others(41): Show c.779-986_779-985insATATATAGATATATAGATATATAGAG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL2_chr11_74691429_74736426	74731344	C C	CCGGCGGG others(19): Show CCGGCGGGGCGGCGGTCCCAGCAGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0032 a0001c0002t0008g0032	1	392	0.0026	26	c.-48 others(35): Show c.-482_-457dupCCGCTGCTGGGACCGCCGCCCCGCCG	CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	1/11	457		chr11	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393857	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0023 a0002c0002t0007g0023	1	133	0.0075	26	c.-76 others(35): Show c.-763_-762insCACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		318		chr15	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	133	0.0075	26	c.-77 others(35): Show c.-771_-770insTAGACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		326		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA18984.hp2 HG02723.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0031 a0001c0001t0001g0034	2	420	0.0048	26	c.-35 others(37): Show c.-3530_-3529insTATATATATATATATAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 NA19068.hp1 HG02683.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	420	0.0048	26	c.-35 others(37): Show c.-3530_-3529insTATATATAGAGAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136921794	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00738.hp1 others(11): Show HG00099.hp2 HG00733.hp2 HG00738.hp1 HG01169.hp1 HG01361.hp2 HG01943.hp1 HG02109.hp2 HG03688.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18956.hp1 NA18982.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0036	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0006g0243 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0007g0132 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0305 a0001c0001t0008g0083 a0001c0001t0008g0131 a0001c0001t0017g0277 a0001c0001t0036g0059	14	320	0.0438	26	c.-12 others(47): Show c.-125+52384_-125+52385insTTTTTTTTTTTTTTTTTTTTTTTT TT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18939.hp2 NA18971.hp1 others(1): Show HG01168.hp2 NA18939.hp2 NA18971.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0076 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0076 a0001c0002t0001 a0001c0002t0005 a0001c0002t0017	a0001c0001t0076g0109 a0001c0002t0001g0027 a0001c0002t0005g0030 others(1): Show a0001c0001t0076g0109 a0001c0002t0001g0027 a0001c0002t0005g0030 a0001c0002t0017g0240	4	320	0.0125	26	c.-46 others(43): Show c.-46-3604_-46-3603insGTGTGTGTGTGTATATATATATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(19): Show GTCTCTCTCTTTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG03139.hp2 NA20129.hp2 HG02040.hp1 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0022 a0001c0001t0006 a0001c0001t0013 a0001c0001t0022	a0001c0001t0006g0003 a0001c0001t0013g0078 a0001c0001t0022g0008 a0001c0001t0006g0003 a0001c0001t0013g0078 a0001c0001t0022g0008	3	116	0.0259	26	c.-46 others(37): Show c.-4694_-4693insTCTCTCTCTTTCTCTCTCTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239580704	T T	TATATATA others(19): Show TATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp1 HG01243.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0056 a0001c0001t0019 a0001c0001t0056	a0001c0001t0019g0025 a0001c0001t0056g0079 a0001c0001t0019g0025 a0001c0001t0056g0079	2	116	0.0172	26	c.-31 others(47): Show c.-313+34956_-313+34957insTATATATATATATACACACACACA CA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239602110	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	116	0.0086	26	c.-31 others(47): Show c.-312-30113_-312-30112insGTGTGTGTGTGTGTGTATATATAT AT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684770	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	116	0.0086	26	c.-14 others(45): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732612	C C	CTTAGATA others(19): Show CTTAGATAAGTATACCTAATATCTCAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19043.hp1 NA18943.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0005g0053 a0001c0001t0001g0009 a0001c0001t0005g0053	2	116	0.0172	26	c.-14 others(47): Show c.-147+54349_-147+54350insTTTAGATAAGTATACCTAATATCT CA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732638	C C	CTTAGATA others(19): Show CTTAGATAAGTATACCTAATATCTCAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0088 a0001c0001t0024g0088	1	116	0.0086	26	c.-14 others(47): Show c.-147+54375_-147+54376insTTTAGATAAGTATACCTAATATCT CA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA1_chr2_174742592_174769472	174768215	C C	CAAACATA others(19): Show CAAACATATACAATAAATTATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003 a0004c0005 a0006c0008 a0007c0010 a0008c0009 a0009c0011 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0006t0001 a0001c0013t0001 a0002c0003t0001 a0004c0005t0003 a0006c0008t0001 a0007c0010t0001 a0008c0009t0001 a0009c0011t0004 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0059 a0001c0001t0004g0170 a0001c0001t0005g0047 a0001c0001t0006g0126 a0001c0002t0001g0027 a0001c0006t0001g0043 a0001c0013t0001g0163 a0002c0003t0001g0008 a0002c0003t0001g0061 a0002c0003t0001g0098 a0002c0003t0001g0124 a0004c0005t0003g0037 a0006c0008t0001g0107 a0007c0010t0001g0109 a0008c0009t0001g0128 a0009c0011t0004g0169 a0010c0012t0001g0112	266	370	0.7189	26	c.-38 others(37): Show c.-3847_-3822dupACATATATAATTTATTGTATATGTTT	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding		3744		chr2	TogoVar
CHRNA1_chr2_174742592_174769472	174768263	T T	TATGTAAA others(19): Show TATGTAAACATATACAATAAATTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02809.hp2 NA20129.hp2 HG02451.hp2 HG02809.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0134 a0001c0001t0001g0036 a0001c0001t0001g0134	3	370	0.0081	26	c.-38 others(37): Show c.-3895_-3870dupGTATAATTTATTGTATATGTTTACAT	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding		3792		chr2	TogoVar
CHRNA2_chr8_27454756_27484261	27480467	A A	AGAAAAGG others(19): Show AGAAAAGGAAAGGAAAGGAAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA19043.hp2 HG02630.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0207 a0002c0002t0004g0208 a0001c0001t0003g0207 a0002c0002t0004g0208	2	458	0.0044	26	c.-17 others(37): Show c.-1781_-1780insCTTTCCTTTCCTTTCCTTTCCTTTTC	CHRNA2	ENSG00000120903.13	transcript	ENST00000407991.3	protein_coding		1207		chr8	TogoVar
CHRNA4_chr20_63338223_63366349	63359903	G G	GTGTGTGT others(19): Show GTGTGTGTGTGCGCGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	168	0.0060	26	c.77- others(39): Show c.77-205_77-204insGCGCACGCCCGGCGCGCACACACACA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359903	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp1 others(35): Show HG00423.hp2 HG00544.hp1 HG00609.hp1 HG01074.hp1 HG01106.hp2 HG01192.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02896.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 NA18747.hp1 NA18945.hp1 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0012 a0001c0001 a0001c0007 a0002c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0007t0022 a0002c0012t0003	a0001c0001t0003g0006 a0001c0001t0003g0107 a0001c0001t0003g0111 others(30): Show a0001c0001t0003g0006 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0006g0051 a0001c0001t0009g0045 a0001c0001t0020g0092 a0001c0001t0027g0086 a0001c0001t0029g0124 a0001c0001t0030g0114 a0001c0001t0032g0116 a0001c0001t0033g0112 a0001c0001t0035g0117 a0001c0007t0022g0033 a0002c0012t0003g0119	38	168	0.2262	26	c.77- others(39): Show c.77-205_77-204insGCGCACGCCCGGCACACACACACACA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0202 a0002c0002t0003g0202	1	382	0.0026	26	c.106 others(43): Show c.106+4624_106+4625insTTTTTTTTTTTTTTTTTTTTTTTTTT	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32070669	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0191 a0001c0001t0015g0191	1	307	0.0033	26	c.196 others(45): Show c.196-30624_196-30599dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32114057	T T	TACACACA others(19): Show TACACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0249	1	307	0.0033	26	c.350 others(43): Show c.350+2159_350+2160insCACACATATATATATATATATACACA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32165959	T T	TGCTCGCT others(19): Show TGCTCGCTCCCTGTGTGCACTGCTGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG06807.hp1 HG02630.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0206 a0001c0001t0029g0213 a0001c0001t0029g0206 a0001c0001t0029g0213	2	307	0.0065	26	c.991 others(43): Show c.991-1980_991-1955dupGCTCGCTCCCTGTGTGCACTGCTGCC	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00738.hp2 others(5): Show HG00280.hp1 HG00280.hp2 HG00738.hp2 HG01081.hp1 HG02602.hp1 HG02723.hp1 HG03098.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0002g0154 a0001c0001t0002g0242 a0001c0001t0005g0186	8	282	0.0284	26	c.249 others(43): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAAAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST11_chr12_104451948_104767014	104637302	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0005 a0001c0001t0029g0005	1	240	0.0042	26	c.204 others(45): Show c.204+35319_204+35344dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	392	0.0026	26	c.547 others(41): Show c.547-219_547-194dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	254	0.0039	26	c.131 others(45): Show c.131-13890_131-13889insAAGAAAGAAAGAGAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAGA others(19): Show GAAAGAGAGAAAGAGAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	254	0.0039	26	c.131 others(45): Show c.131-13890_131-13889insAAGAGAGAAAGAGAGAAAGAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765053	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19010.hp2 NA19030.hp1 HG01071.hp2 NA19010.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0130 a0001c0001t0001g0225 a0001c0001t0001g0024 a0001c0001t0001g0130 a0001c0001t0001g0225	3	254	0.0118	26	c.131 others(43): Show c.131-6340_131-6339insATATATATATATATATATATATATAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp1 HG03831.hp1 HG01361.hp2 HG02683.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0112 a0001c0001t0003g0216 a0001c0001t0003g0041 a0001c0001t0003g0112 a0001c0001t0003g0216	3	254	0.0118	26	c.131 others(43): Show c.131-6340_131-6339insATATATATATATATATATATATGTAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	254	0.0039	26	c.131 others(43): Show c.131-6340_131-6339insATATATATATATATATATGTATGTAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY1_chr15_101170727_101257048	101171019	A A	AAAATGTC others(19): Show AAAATGTCAACGTTGACCAAATAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0013 a0001c0014t0013	a0001c0014t0013g0038 a0001c0014t0013g0038	1	422	0.0024	26	c.63 others(37): Show c.6368_*6369insGTTTTATTTGGTCAACGTTGACATTT	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding		4707		chr15	TogoVar
CHSY3_chr5_129899465_130191634	130143756	A A	ATATATAT others(19): Show ATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0123 a0001c0001t0017g0123	1	276	0.0036	26	c.108 others(47): Show c.1087-40472_1087-40471insATATATATATATATATGTGTGTGT GT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCGCCCC others(19): Show GCCGCCCCGCCCCGCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA21309.hp1 HG03471.hp2 NA21309.hp1	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0001 a0022c0041t0007 a0022c0041t0001 a0022c0041t0007	a0022c0041t0001g0201 a0022c0041t0007g0200 a0022c0041t0001g0201 a0022c0041t0007g0200	2	428	0.0047	26	c.217 others(43): Show c.2176-103_2176-102insGCCCCGCCCCGCCCCTCCCCTCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIBAR1_chr8_93695550_93736527	93695813	G G	GCAAAAAA others(19): Show GCAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	374	0.0027	26	c.-48 others(37): Show c.-4835_-4834insCAAAAAAAAAAAAAAAAAAAAAAAAA	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		4736		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697748	G G	GTATATAT others(19): Show GTATATATATATATACATATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA19056.hp2 HG02258.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	2	374	0.0054	26	c.-29 others(37): Show c.-2900_-2899insTATATATATATATACATATATATACA	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2801		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697750	G G	GTATATAT others(19): Show GTATATATATATATACATATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp2 others(84): Show HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0030 a0001c0005t0010 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0005 a0001c0001t0005g0004 a0001c0001t0005g0042 a0001c0001t0009g0003 a0001c0001t0009g0124 a0001c0001t0010g0003 a0001c0001t0019g0129 a0001c0001t0021g0132 a0001c0001t0030g0141 a0001c0005t0010g0003 a0001c0006t0001g0120	87	374	0.2326	26	c.-28 others(37): Show c.-2898_-2897insTATATATATATATACATATATATACA	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2799		chr8	TogoVar

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