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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ANO2_chr12_5557655_5950259	5873196	G G	GCTCGCTC others(7): Show GCTCGCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	162	0.0062	14	c.535 others(33): Show c.535-19056_535-19055insAGAGAGAGAGCGAG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5873196	G G	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02602.hp2 HG01346.hp2 HG02602.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0008 a0003c0004 a0004c0008	a0003c0004t0001 a0004c0008t0001 a0003c0004t0001 a0004c0008t0001	a0003c0004t0001g0032 a0004c0008t0001g0064 a0003c0004t0001g0032 a0004c0008t0001g0064	2	162	0.0124	14	c.535 others(33): Show c.535-19069_535-19056dupAGAGAGAGAGAGAG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5883502	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02922.hp2 others(3): Show HG01109.hp2 HG02258.hp2 HG02922.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0026 a0001c0001 a0009c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0009c0026t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0059 a0001c0001t0003g0015 a0001c0001t0005g0139 a0009c0026t0001g0047	6	162	0.0370	14	c.535 others(33): Show c.535-29375_535-29362dupACACACACACACAC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5902719	A A	AGGGGAAG others(7): Show AGGGGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	162	0.0062	14	c.534 others(33): Show c.534+18320_534+18321insCCTCCTCCTTCCCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5902719	A A	AGGGGAGG others(7): Show AGGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(16): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01884.hp2 HG01952.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0002c0003t0002 a0002c0003t0007	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0057 others(16): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0002g0140 a0001c0001t0002g0149 a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0005t0001g0003 a0001c0005t0001g0070 a0001c0005t0002g0134 a0001c0005t0002g0148 a0001c0005t0006g0130 a0001c0005t0006g0131 a0002c0003t0002g0141 a0002c0003t0002g0147 a0002c0003t0002g0155 a0002c0003t0007g0142	19	162	0.1173	14	c.534 others(33): Show c.534+18320_534+18321insCTCCTCCCCTCCCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5923081	T T	TACACACA others(7): Show TACACACACGCATAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0004 a0003c0018t0004	a0003c0018t0004g0038 a0003c0018t0004g0038	1	162	0.0062	14	c.23- others(27): Show c.23-278_23-277insGTATGCGTGTGTGT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5923092	A A	ATACACAC others(7): Show ATACACACACACATG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	162	0.0062	14	c.23- others(27): Show c.23-289_23-288insCATGTGTGTGTGTA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5937928	A A	ATGTTAGG others(7): Show ATGTTAGGACATGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02258.hp1 others(12): Show HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG03209.hp1 HG03704.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0016 a0002c0003 others(5): Show a0001c0001 a0001c0016 a0002c0003 a0002c0006 a0003c0004 a0003c0011 a0005c0010 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0016t0002 a0002c0003t0002 a0002c0006t0002 a0003c0004t0002 a0003c0011t0001 a0005c0010t0003 a0011c0021t0002	a0001c0001t0001g0005 a0001c0001t0002g0152 a0001c0001t0002g0159 others(12): Show a0001c0001t0001g0005 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0005g0156 a0001c0016t0002g0157 a0002c0003t0002g0155 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0006t0002g0154 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0011t0001g0072 a0005c0010t0003g0006 a0011c0021t0002g0153	15	162	0.0926	14	c.22+ others(29): Show c.22+7267_22+7268insCACATGTCCTAACA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26385908	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0133 a0001c0007t0001g0133	1	190	0.0053	14	c.46+ others(31): Show c.46+53588_46+53589insTATATATATATACA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26412795	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01167.hp1 others(15): Show HG00735.hp2 HG01099.hp2 HG01167.hp1 HG01361.hp1 HG01361.hp2 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 NA18522.hp2 NA18955.hp1 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(8): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0003t0002 a0001c0003t0021 a0001c0004t0004 a0001c0005t0005 a0001c0006t0025 a0001c0007t0001 a0001c0008t0009	a0001c0001t0001g0051 a0001c0001t0001g0173 a0001c0002t0002g0049 others(15): Show a0001c0001t0001g0051 a0001c0001t0001g0173 a0001c0002t0002g0049 a0001c0002t0002g0188 a0001c0002t0008g0178 a0001c0002t0011g0142 a0001c0003t0002g0003 a0001c0003t0021g0007 a0001c0004t0004g0059 a0001c0004t0004g0125 a0001c0005t0005g0006 a0001c0005t0005g0032 a0001c0005t0005g0041 a0001c0006t0025g0060 a0001c0007t0001g0011 a0001c0007t0001g0095 a0001c0008t0009g0171 a0001c0008t0009g0172	18	190	0.0947	14	c.47- others(31): Show c.47-29102_47-29089dupGTGTGTGTGTGTGT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26412826	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0009 a0001c0001t0003 a0001c0008t0009	a0001c0001t0003g0132 a0001c0008t0009g0152 a0001c0001t0003g0132 a0001c0008t0009g0152	2	190	0.0105	14	c.47- others(31): Show c.47-29089_47-29088insGTGTGTGTGTATGT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26496974	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG04199.hp1 HG02083.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0010 a0001c0007t0001 a0001c0005t0010 a0001c0007t0001	a0001c0005t0010g0008 a0001c0007t0001g0026 a0001c0005t0010g0008 a0001c0007t0001g0026	2	190	0.0105	14	c.433 others(33): Show c.433-11121_433-11108dupTATATATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26529403	A A	AATATATA others(7): Show AATATATAATAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	190	0.0053	14	c.738 others(31): Show c.738-1799_738-1798insTATAATAATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CACATATA others(7): Show CACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG01358.hp2 others(8): Show HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02965.hp2 HG03041.hp2 HG03704.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0002t0011 a0001c0002t0028 a0001c0002t0029	a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0003g0145 a0001c0001t0018g0099 a0001c0001t0023g0169 a0001c0001t0027g0054 a0001c0002t0011g0114 a0001c0002t0028g0154 a0001c0002t0029g0112	11	190	0.0579	14	c.115 others(33): Show c.1154+2184_1154+2185insCATATATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26615414	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	190	0.0053	14	c.183 others(33): Show c.1837-9047_1837-9046insATATATATATATTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26615414	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	190	0.0053	14	c.183 others(33): Show c.1837-9047_1837-9046insATATATATATTTTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26615414	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0140 a0001c0001t0015g0014 a0001c0001t0003g0140 a0001c0001t0015g0014	2	190	0.0105	14	c.183 others(33): Show c.1837-9047_1837-9046insATATATATTTTTTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26615414	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0137 a0001c0007t0003g0148 a0001c0001t0003g0137 a0001c0007t0003g0148	2	190	0.0105	14	c.183 others(33): Show c.1837-9047_1837-9046insATATATTTTTTTTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26627814	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02523.hp1 HG03209.hp2 HG02280.hp2 HG02523.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0017 a0001c0001 a0001c0006 a0001c0017	a0001c0001t0001 a0001c0006t0016 a0001c0017t0024 a0001c0001t0001 a0001c0006t0016 a0001c0017t0024	a0001c0001t0001g0102 a0001c0006t0016g0015 a0001c0017t0024g0147 a0001c0001t0001g0102 a0001c0006t0016g0015 a0001c0017t0024g0147	3	190	0.0158	14	c.187 others(33): Show c.1873+3344_1873+3357dupTGTGTGTGTGTGTG	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26627852	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19001.hp1 NA19002.hp1 NA18977.hp2 NA19001.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0052 a0001c0004t0004g0118 a0001c0004t0004g0162 a0001c0004t0004g0052 a0001c0004t0004g0118 a0001c0004t0004g0162	3	190	0.0158	14	c.187 others(33): Show c.1873+3357_1873+3358insTGTGTGTGTGCGTG	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26644815	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0069 a0001c0004t0017g0069	1	190	0.0053	14	c.242 others(33): Show c.2428+1502_2428+1515dupCACACACACACACA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	23/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	100806523	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp2 HG03453.hp2 HG02257.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0003t0003g0055 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0003t0003g0055	3	236	0.0127	14	c.-14 others(35): Show c.-141+11496_-141+11497insTTTTTTTTTTTTTT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	1/27			chr12	TogoVar
ANO4_chr12_100789776_101133629	101073596	A A	AATAATAA others(7): Show AATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp2 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0182 a0001c0002t0002g0007 a0001c0002t0002g0182	2	236	0.0085	14	c.131 others(33): Show c.1313-5596_1313-5595insTAATAATAATAATA	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101080883	T T	TAATATAT others(7): Show TAATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0221	1	236	0.0042	14	c.139 others(33): Show c.1395+1608_1395+1609insAATATATATATATA	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	15/27			chr12	TogoVar
ANO4_chr12_100789776_101133629	101080883	T T	TATTATAT others(7): Show TATTATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02074.hp2 HG03492.hp1 others(3): Show HG00673.hp1 HG02074.hp2 HG03492.hp1 HG04228.hp1 NA18989.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0120 others(3): Show a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0120 a0001c0002t0002g0126 a0001c0002t0002g0192 a0001c0002t0002g0209	6	236	0.0254	14	c.139 others(33): Show c.1395+1608_1395+1609insATTATATATATATA	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	15/27			chr12	TogoVar
ANO4_chr12_100789776_101133629	101131783	C C	CTTGTGTG others(7): Show CTTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	236	0.0042	14	c.39 others(25): Show c.3927_*3928insTTGTGTGTGTGTGT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding		3155		chr12	TogoVar
ANO5_chr11_22188085_22288357	22218115	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02630.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0020 a0003c0005t0019 a0003c0005t0020	a0003c0005t0019g0021 a0003c0005t0019g0022 a0003c0005t0019g0023 others(3): Show a0003c0005t0019g0021 a0003c0005t0019g0022 a0003c0005t0019g0023 a0003c0005t0020g0018 a0003c0005t0020g0019 a0003c0005t0020g0020	6	364	0.0165	14	c.139 others(29): Show c.139-119_139-106dupACACACACACACAC	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22218115	T T	TCTCACAC others(7): Show TCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02735.hp1 NA18522.hp1 others(1): Show HG01243.hp1 HG02735.hp1 NA18522.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0002c0003t0011 a0001c0001t0001 a0002c0003t0004 a0002c0003t0011	a0001c0001t0001g0172 a0001c0001t0001g0308 a0002c0003t0004g0216 others(1): Show a0001c0001t0001g0172 a0001c0001t0001g0308 a0002c0003t0004g0216 a0002c0003t0011g0291	4	364	0.0110	14	c.139 others(29): Show c.139-130_139-129insTCACACACACACAC	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22265730	C C	CAAGTGGA others(7): Show CAAGTGGATTCTAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	364	0.0028	14	c.189 others(33): Show c.1898+2689_1898+2702dupAGTGGATTCTAAAA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02723.hp2 HG02976.hp1 others(2): Show HG01975.hp2 HG02723.hp2 HG02976.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0342 others(2): Show a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0342 a0001c0001t0005g0349 a0001c0001t0018g0334	5	364	0.0137	14	c.189 others(33): Show c.1899-2801_1899-2788dupTATATATATATATA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22272302	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02083.hp2 NA18522.hp1 others(2): Show HG01981.hp2 HG02083.hp2 NA18522.hp1 NA18972.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0166 a0001c0001t0001g0236 a0001c0001t0001g0308 others(2): Show a0001c0001t0001g0166 a0001c0001t0001g0236 a0001c0001t0001g0308 a0001c0001t0004g0186 a0002c0003t0001g0201	5	364	0.0137	14	c.203 others(31): Show c.2030-451_2030-438dupCACACACACACACA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO6_chr12_45211095_45437349	45266805	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02970.hp2 others(2): Show HG02572.hp1 HG02647.hp1 HG02970.hp2 HG03669.hp2 HG06807.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0016 a0001c0001 a0001c0003 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0006c0016t0005	a0001c0001t0001g0017 a0001c0001t0002g0227 a0001c0003t0001g0011 others(2): Show a0001c0001t0001g0017 a0001c0001t0002g0227 a0001c0003t0001g0011 a0001c0003t0001g0015 a0006c0016t0005g0014	5	234	0.0214	14	c.71- others(31): Show c.71-35184_71-35171dupGTGTGTGTGTGTGT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA20905.hp1 HG02132.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0159 a0001c0001t0003g0153 a0001c0001t0003g0159	2	234	0.0086	14	c.151 others(33): Show c.151-14181_151-14180insGTGTATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0002 a0001c0002t0001g0005	2	234	0.0086	14	c.151 others(33): Show c.151-14181_151-14180insGTGTGTATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45322293	A A	ATAGGTGG others(7): Show ATAGGTGGTAAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(211): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0015 a0002c0006 a0003c0005 a0004c0004 a0006c0016 a0007c0011 a0008c0012 a0009c0010 a0010c0014 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0022 a0001c0003t0001 a0001c0003t0005 a0001c0007t0013 a0001c0007t0020 a0001c0013t0002 a0001c0015t0001 a0002c0006t0004 a0003c0005t0010 a0003c0005t0019 a0004c0004t0004 a0006c0016t0005 a0007c0011t0001 a0008c0012t0001 a0009c0010t0001 a0010c0014t0003 a0011c0009t0005	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(211): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0080 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0190 a0001c0001t0003g0195 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0003g0216 a0001c0001t0003g0226 a0001c0001t0004g0073 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0005g0045 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0231 a0001c0001t0007g0034 a0001c0001t0007g0055 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0110 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0097 a0001c0001t0008g0137 a0001c0001t0008g0194 a0001c0001t0008g0225 a0001c0001t0011g0071 a0001c0001t0011g0086 a0001c0001t0012g0038 a0001c0001t0012g0201 a0001c0001t0015g0066 a0001c0001t0016g0228 a0001c0001t0017g0204 a0001c0001t0021g0134 a0001c0001t0024g0171 a0001c0001t0025g0166 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0135 a0001c0002t0005g0007 a0001c0002t0022g0028 a0001c0003t0001g0011 a0001c0003t0001g0015 a0001c0003t0005g0010 a0001c0003t0005g0032 a0001c0007t0013g0233 a0001c0007t0013g0234 a0001c0007t0020g0008 a0001c0013t0002g0203 a0001c0015t0001g0103 a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 a0003c0005t0010g0061 a0003c0005t0010g0180 a0003c0005t0019g0018 a0004c0004t0004g0149 a0004c0004t0004g0150 a0004c0004t0004g0151 a0006c0016t0005g0014 a0007c0011t0001g0091 a0008c0012t0001g0105 a0009c0010t0001g0083 a0010c0014t0003g0163 a0011c0009t0005g0012	214	234	0.9145	14	c.151 others(31): Show c.151-8994_151-8993insAAGGAGTAGGTGGT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45322293	A A	ATAGGTGG others(7): Show ATAGGTGGTAGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0009 a0001c0001t0001g0013	2	234	0.0086	14	c.151 others(31): Show c.151-8994_151-8993insAGGGAGTAGGTGGT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO8_chr19_17318223_17339855	17323311	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0102 a0001c0001t0017g0102	1	364	0.0028	14	c.19 others(23): Show c.192_*205dupCACACACACACACA	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	18/18	205		chr19	TogoVar
ANO9_chr11_412938_447011	423885	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	286	0.0035	14	c.133 others(33): Show c.1335-2701_1335-2688dupTGTGTGTGTGTGTG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
ANOS1_chrX_8523874_8737137	8525954	G G	GACACACA others(7): Show GACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02257.hp1 HG00280.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0216 a0001c0001t0003g0198 a0001c0001t0003g0216	2	231	0.0087	14	c.70 others(25): Show c.7040_*7041insGTGTGTGTGTGTGT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding		2919		chrX	TogoVar
ANOS1_chrX_8523874_8737137	8536188	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	231	0.0043	14	c.162 others(31): Show c.1622-391_1622-378dupAAAAAAAAAAAAAA	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	11/13			chrX	TogoVar
ANOS1_chrX_8523874_8737137	8594658	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19086.hp1 HG02071.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0134 a0001c0001t0001g0043 a0001c0001t0002g0134	2	231	0.0087	14	c.541 others(31): Show c.541+2362_541+2375dupTATATATATATATA	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	4/13			chrX	TogoVar
ANOS1_chrX_8523874_8737137	8668430	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	231	0.0043	14	c.255 others(33): Show c.255+31267_255+31268insGTGTATATATATAT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	2/13			chrX	TogoVar
ANOS1_chrX_8523874_8737137	8725523	T T	TATATATA others(7): Show TATATATATATACAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG00741.hp2 others(48): Show HG00544.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp1 HG02809.hp1 HG02976.hp1 HG03017.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18945.hp1 NA18952.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18975.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19060.hp1 NA19082.hp1 NA19085.hp1 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0008 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0034 a0002c0002t0037 a0002c0003t0017 a0002c0008t0002 a0004c0007t0002	a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0152 others(48): Show a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0152 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0181 a0001c0001t0003g0210 a0001c0001t0003g0220 a0001c0001t0018g0140 a0002c0002t0002g0139 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0174 a0002c0002t0002g0182 a0002c0002t0002g0204 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0002g0231 a0002c0002t0003g0176 a0002c0002t0003g0214 a0002c0002t0006g0132 a0002c0002t0006g0141 a0002c0002t0006g0163 a0002c0002t0006g0171 a0002c0002t0006g0177 a0002c0002t0006g0178 a0002c0002t0034g0230 a0002c0002t0037g0173 a0002c0003t0017g0224 a0002c0003t0017g0225 a0002c0008t0002g0221 a0004c0007t0002g0153	51	231	0.2208	14	c.207 others(31): Show c.207+6293_207+6306dupCTGTATATATATAT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
ANP32A_chr15_68773535_68825895	68825474	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02976.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0099 a0001c0001t0001g0009 a0001c0001t0001g0099	3	354	0.0085	14	c.-47 others(25): Show c.-4737_-4724dupTTTTTTTTTTTTTT	ANP32A	ENSG00000140350.15	transcript	ENST00000465139.6	protein_coding		4580		chr15	TogoVar
ANP32B_chr9_97978341_98020943	97998788	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	310	0.0032	14	c.327 others(29): Show c.327+134_327+147dupTTTTTTTTTTTTTT	ANP32B	ENSG00000136938.9	transcript	ENST00000339399.5	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
ANTKMT_chr16_716146_727590	719796	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03453.hp2 NA19005.hp2 HG03098.hp1 HG03453.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0001 a0001c0004t0001g0003 a0001c0002t0001g0001 a0001c0004t0001g0003	3	392	0.0077	14	c.-14 others(25): Show c.-1479_-1478insAAAAAAAAAAAAAA	ANTKMT	ENSG00000103254.10	transcript	ENST00000569529.6	protein_coding		1349		chr16	TogoVar
ANTXR1_chr2_69008179_69254327	69193459	T T	TCTCTCTC others(7): Show TCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0083 a0002c0002t0003g0083	1	206	0.0049	14	c.143 others(29): Show c.1434+45_1434+46insTCTCTCACACACAC	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69219384	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01496.hp2 others(10): Show HG00642.hp1 HG01261.hp1 HG01496.hp2 HG01975.hp2 HG01981.hp2 HG02040.hp1 HG02300.hp2 HG02818.hp1 HG03704.hp1 HG04204.hp2 NA19030.hp1 NA19060.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0028 a0001c0001t0030 a0001c0001t0034 a0001c0003t0014 a0001c0003t0016 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0055 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0134 a0001c0001t0002g0160 a0001c0001t0005g0058 a0001c0001t0028g0003 a0001c0001t0030g0164 a0001c0001t0034g0066 a0001c0003t0014g0110 a0001c0003t0016g0132 a0002c0002t0001g0075	13	206	0.0631	14	c.143 others(35): Show c.1435-25816_1435-25803dupACACACACACACAC	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR2_chr4_79896146_80078229	79919863	T T	TAATATAT others(7): Show TAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	2	268	0.0075	14	c.142 others(35): Show c.1429-12397_1429-12396insTATATATATATATT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79927294	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02572.hp1 others(9): Show HG01891.hp2 HG02258.hp1 HG02572.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG03239.hp2 NA18961.hp2 NA18971.hp2 NA19007.hp1 NA19064.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0043 a0001c0003t0005 a0002c0002t0080 a0003c0004t0005 a0003c0004t0008 a0003c0004t0041	a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0069 others(9): Show a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0008g0020 a0001c0001t0010g0017 a0001c0001t0043g0037 a0001c0003t0005g0083 a0002c0002t0080g0247 a0003c0004t0005g0067 a0003c0004t0008g0016 a0003c0004t0041g0011	12	268	0.0448	14	c.142 others(35): Show c.1429-19841_1429-19828dupTGTGTGTGTGTGTG	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)