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
EML1_chr14_99788413_99947060	99796186	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG03540.hp2 others(1): Show HG02886.hp1 HG03130.hp1 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0004 a0001c0003t0001 a0001c0005t0004	a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0005t0004g0284 others(1): Show a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0005t0004g0284 a0001c0005t0004g0285	4	288	0.0139	-14	c.67+ others(29): Show c.67+2675_67+2688delGAGAGAGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99866570	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01069.hp1 others(38): Show HG00140.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02818.hp2 HG02970.hp2 HG03225.hp2 HG03239.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18939.hp2 NA18953.hp2 NA18963.hp1 NA18970.hp1 NA18983.hp1 NA18984.hp2 NA19060.hp1 NA19088.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0007 a0002c0006 a0001c0004 a0001c0007 a0002c0006	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(7): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0011 a0001c0007t0002 a0001c0007t0018 a0002c0006t0002 a0002c0006t0003	a0001c0004t0001g0009 a0001c0004t0001g0040 a0001c0004t0001g0091 others(38): Show a0001c0004t0001g0009 a0001c0004t0001g0040 a0001c0004t0001g0091 a0001c0004t0001g0115 a0001c0004t0001g0135 a0001c0004t0001g0143 a0001c0004t0002g0047 a0001c0004t0003g0022 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0003g0035 a0001c0004t0003g0048 a0001c0004t0003g0049 a0001c0004t0003g0059 a0001c0004t0003g0064 a0001c0004t0003g0074 a0001c0004t0003g0075 a0001c0004t0003g0090 a0001c0004t0003g0096 a0001c0004t0003g0103 a0001c0004t0003g0127 a0001c0004t0003g0131 a0001c0004t0003g0145 a0001c0004t0003g0149 a0001c0004t0003g0180 a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0199 a0001c0004t0003g0206 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0280 a0001c0004t0004g0017 a0001c0004t0005g0249 a0001c0004t0005g0266 a0001c0004t0011g0156 a0001c0007t0002g0005 a0001c0007t0018g0241 a0002c0006t0002g0128 a0002c0006t0002g0148 a0002c0006t0003g0076	41	288	0.1424	-14	c.383 others(29): Show c.383+937_383+950delAAAAAAAAAAAAAA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42278573	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG01981.hp2 others(1): Show HG01261.hp2 HG01433.hp1 HG01981.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0265 a0003c0003t0002g0267 a0003c0003t0002g0268 others(1): Show a0003c0003t0002g0265 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0284	4	358	0.0112	-14	c.668 others(31): Show c.668-2260_668-2247delAAAAAAAAAAAAAA	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796611	ATACATAT others(7): Show ATACATATTATATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02280.hp2 HG03130.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 others(1): Show a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0313	4	332	0.0121	-14	c.-41 others(25): Show c.-4122_-4109delACATATAATATGTA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3659		chr14	TogoVar
EML6_chr2_54718662_54977025	54744905	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00741.hp2 others(37): Show HG00140.hp2 HG00323.hp2 HG00741.hp2 HG01070.hp2 HG01175.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02080.hp2 HG02258.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp2 NA18957.hp1 NA18963.hp2 NA18983.hp1 NA18993.hp1 NA18994.hp2 NA19085.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0014 a0001c0025 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0042 a0001c0001t0055 a0001c0001t0056 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0020 a0001c0002t0046 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0010t0001 a0001c0010t0004 a0001c0014t0003 a0001c0025t0004 a0002c0008t0022	a0001c0001t0001g0063 a0001c0001t0001g0203 a0001c0001t0001g0244 others(37): Show a0001c0001t0001g0063 a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0003g0138 a0001c0001t0004g0259 a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0007g0239 a0001c0001t0014g0170 a0001c0001t0042g0198 a0001c0001t0055g0251 a0001c0001t0056g0258 a0001c0002t0001g0235 a0001c0002t0004g0065 a0001c0002t0011g0264 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0020g0164 a0001c0002t0046g0051 a0001c0003t0001g0252 a0001c0003t0001g0261 a0001c0003t0002g0204 a0001c0003t0002g0240 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0005t0001g0052 a0001c0005t0001g0093 a0001c0010t0001g0237 a0001c0010t0004g0260 a0001c0014t0003g0124 a0001c0025t0004g0064 a0002c0008t0022g0102	40	264	0.1515	-14	c.197 others(33): Show c.197+19692_197+19705delACACACACACACAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54767618	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	264	0.0038	-14	c.197 others(33): Show c.197+42378_197+42391delGTGTGTGTGTATGT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54789513	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02257.hp2 others(4): Show HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02970.hp2 HG03098.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0028	a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0005t0001 a0002c0028t0012	a0001c0001t0005g0078 a0001c0002t0001g0234 a0001c0002t0001g0236 others(4): Show a0001c0001t0005g0078 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0006g0003 a0001c0002t0006g0077 a0001c0005t0001g0081 a0002c0028t0012g0232	7	264	0.0265	-14	c.198 others(33): Show c.198-23697_198-23684delAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0108 a0001c0002t0011g0108	1	264	0.0038	-14	c.198 others(31): Show c.198-6601_198-6588delAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54905321	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp1 others(27): Show HG01070.hp1 HG01071.hp2 HG01255.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03834.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19085.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0014 a0001c0020 a0002c0008	a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 others(15): Show a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0023 a0001c0002t0024 a0001c0002t0041 a0001c0002t0046 a0001c0004t0016 a0001c0005t0001 a0001c0005t0010 a0001c0005t0024 a0001c0014t0003 a0001c0020t0037 a0002c0008t0022	a0001c0001t0042g0198 a0001c0002t0001g0072 a0001c0002t0001g0234 others(27): Show a0001c0001t0042g0198 a0001c0002t0001g0072 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0003g0125 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0006g0006 a0001c0002t0006g0017 a0001c0002t0010g0056 a0001c0002t0010g0071 a0001c0002t0011g0264 a0001c0002t0015g0126 a0001c0002t0023g0127 a0001c0002t0023g0142 a0001c0002t0024g0073 a0001c0002t0041g0095 a0001c0002t0046g0051 a0001c0004t0016g0082 a0001c0005t0001g0052 a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0005t0001g0088 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0010g0060 a0001c0005t0024g0050 a0001c0014t0003g0128 a0001c0020t0037g0014 a0002c0008t0022g0101	30	264	0.1136	-14	c.340 others(33): Show c.3409+1863_3409+1876delCACACACACACACA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10562336	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0397 a0001c0001t0003g0397	1	402	0.0025	-14	c.-60 others(33): Show c.-60-14673_-60-14660delGAGAGAGAGAGAGA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10568446	AATGCTTT others(7): Show AATGCTTTTTTCACG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0119 a0001c0001t0094g0119	1	402	0.0025	-14	c.-61 others(33): Show c.-61+12089_-61+12102delCGTGAAAAAAGCAT	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10581967	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02074.hp2 HG01358.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0124 a0001c0002t0002 a0001c0001t0124 a0001c0002t0002	a0001c0001t0124g0072 a0001c0002t0002g0082 a0001c0001t0124g0072 a0001c0002t0002g0082	2	402	0.0050	-14	c.-14 others(25): Show c.-1493_-1480delCACACACACACACA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding		1370		chr16	TogoVar
EMSY_chr11_76440018_76558031	76522352	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0087	1	360	0.0028	-14	c.173 others(31): Show c.1730-786_1730-773delTTTTTTTTTTTTTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMX1_chr2_72912519_72939891	72919180	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	306	0.0033	-14	c.520 others(29): Show c.520+833_520+846delACACACACACACAC	EMX1	ENSG00000135638.14	transcript	ENST00000258106.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
EN1_chr2_118837171_118852648	118847726	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	-14	c.-57 others(23): Show c.-573_-560delAAAAAAAAAAAAAA	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding		79		chr2	TogoVar
ENAH_chr1_225481829_225658123	225590082	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp2 HG02615.hp2 others(5): Show HG01261.hp2 HG02258.hp2 HG02615.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp1 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0043 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0043 a0001c0001t0044 a0001c0001t0114	a0001c0001t0001g0119 a0001c0001t0015g0002 a0001c0001t0015g0003 others(5): Show a0001c0001t0001g0119 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0015g0007 a0001c0001t0043g0006 a0001c0001t0044g0005 a0001c0001t0114g0307	8	308	0.0260	-14	c.6-2 others(29): Show c.6-22682_6-22669delGTGTGTGTGTGTGT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225625037	AATTCCAG others(7): Show AATTCCAGTGTCCCT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0135 a0001c0001t0086g0135	1	308	0.0033	-14	c.5+2 others(29): Show c.5+27635_5+27648delAGGGACACTGGAAT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225639705	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0258 a0003c0004t0004g0258	1	308	0.0033	-14	c.5+1 others(29): Show c.5+12967_5+12980delGTGTGTGTGTGTGT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENDOD1_chr11_95084846_95137645	95110583	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	368	0.0027	-14	c.301 others(33): Show c.301-17779_301-17766delTGTGTGTGTGTGTG	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOU_chr12_47704734_47730490	47706879	GTGTGTGT others(7): Show GTGTGTGTTTGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	2	422	0.0047	-14	c.39 others(25): Show c.3909_*3922delGACACAAACACACA	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding		2854		chr12	TogoVar
ENDOU_chr12_47704734_47730490	47706893	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00673.hp1 others(46): Show HG00280.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01978.hp1 HG02135.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp1 HG04199.hp2 NA18942.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18984.hp1 NA18998.hp1 NA19004.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0066 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0003g0010 a0001c0002t0001g0017 a0001c0002t0001g0018	49	422	0.1161	-14	c.38 others(25): Show c.3895_*3908delCACACACACACACA	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding		2840		chr12	TogoVar
ENDOU_chr12_47704734_47730490	47728252	TACACACA others(7): Show TACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0109 a0001c0014t0001g0109	1	422	0.0024	-14	c.-28 others(25): Show c.-2853_-2840delGTGTGTGTGTGTGT	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding		2763		chr12	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(23): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG01884.hp1 HG01975.hp1 HG02155.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG03239.hp1 HG03669.hp1 HG04228.hp2 NA18946.hp2 NA18951.hp2 NA18959.hp1 NA18961.hp2 NA18973.hp1 NA18978.hp1 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA19004.hp1 NA19080.hp1 NA19087.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0007 a0007c0007t0001 a0001c0001t0001 a0001c0001t0007 a0007c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0007g0128 a0007c0007t0001g0217	26	384	0.0677	-14	c.594 others(31): Show c.594+1785_594+1798delTATATATATATATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5			chr10	TogoVar
ENO1_chr1_8856000_8883686	8882454	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA18522.hp2 HG01891.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	414	0.0048	-14	c.-38 others(25): Show c.-3898_-3885delAAAAAAAAAAAAAA	ENO1	ENSG00000074800.16	transcript	ENST00000234590.10	protein_coding		3769		chr1	TogoVar
ENO2_chr12_6909580_6928697	6913551	GTTTGTTT others(7): Show GTTTGTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA19003.hp2 NA19004.hp1 NA18968.hp1 NA19003.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0063 a0001c0001t0002g0001 a0001c0001t0002g0063	3	376	0.0080	-14	c.-11 others(25): Show c.-1120_-1107delTTTGTTTTTTTTTT	ENO2	ENSG00000111674.9	transcript	ENST00000229277.6	protein_coding		1028		chr12	TogoVar
ENO4_chr10_116844499_116887601	116875561	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03942.hp2 HG04199.hp2 HG02602.hp2 HG03942.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	400	0.0075	-14	c.134 others(31): Show c.1342-491_1342-478delCACACACACACACA	ENO4	ENSG00000188316.16	transcript	ENST00000341276.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENOPH1_chr4_82425590_82466177	82446689	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02970.hp1 others(5): Show HG02559.hp1 HG02572.hp2 HG02970.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0006g0069 others(5): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0074	8	366	0.0219	-14	c.85- others(29): Show c.85-1216_85-1203delTTTTTTTTTTTTTT	ENOPH1	ENSG00000145293.17	transcript	ENST00000273920.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
ENOPH1_chr4_82425590_82466177	82448251	GTTTTGTT others(7): Show GTTTTGTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp1 NA20300.hp2 HG00323.hp2 HG01192.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0286 a0001c0001t0001g0287 a0002c0002t0001g0167 a0001c0001t0001g0286 a0001c0001t0001g0287 a0002c0002t0001g0167	3	366	0.0082	-14	c.186 others(29): Show c.186+240_186+253delGTTTTTTTTGTTTT	ENOPH1	ENSG00000145293.17	transcript	ENST00000273920.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
ENOSF1_chr18_665318_717630	667280	GGATGGTG others(7): Show GGATGGTGATGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 NA18946.hp2 NA18975.hp1 HG01993.hp1 NA18946.hp2 NA18975.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0008 a0001c0001 a0002c0002 a0004c0008	a0001c0001t0002 a0002c0002t0002 a0004c0008t0004 a0001c0001t0002 a0002c0002t0002 a0004c0008t0004	a0001c0001t0002g0036 a0002c0002t0002g0319 a0004c0008t0004g0398 a0001c0001t0002g0036 a0002c0002t0002g0319 a0004c0008t0004g0398	3	418	0.0072	-14	c.70 others(25): Show c.7011_*7024delTCTCCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3037		chr18	TogoVar
ENOSF1_chr18_665318_717630	667446	GGTGATGG others(7): Show GGTGATGGTGATGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	418	0.0024	-14	c.68 others(25): Show c.6845_*6858delATCATCACCATCAC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2871		chr18	TogoVar
ENOSF1_chr18_665318_717630	667452	GGTGATGA others(7): Show GGTGATGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0361 a0003c0007t0003g0361	1	418	0.0024	-14	c.68 others(25): Show c.6839_*6852delATCTCCATCATCAC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2865		chr18	TogoVar
ENOSF1_chr18_665318_717630	667458	GATGGAGA others(7): Show GATGGAGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 NA18980.hp1 NA19002.hp1 HG03486.hp2 NA18980.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0003 a0001c0001t0006 a0003c0004t0003	a0001c0001t0006g0155 a0003c0004t0003g0349 a0003c0004t0003g0388 a0001c0001t0006g0155 a0003c0004t0003g0349 a0003c0004t0003g0388	3	418	0.0072	-14	c.68 others(25): Show c.6833_*6846delATCACCATCTCCAT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2859		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0099 a0001c0001t0010g0099	1	188	0.0053	-14	c.161 others(35): Show c.1612-11104_1612-11091delATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43284771	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0075 a0001c0001t0017g0075	1	188	0.0053	-14	c.144 others(35): Show c.1446+13561_1446+13574delACACACACACACAC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	12/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43285810	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	188	0.0053	-14	c.144 others(35): Show c.1446+12522_1446+12535delTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	12/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417193	AGGGAGAC others(7): Show AGGGAGACGGGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	188	0.0053	-14	c.-74 others(31): Show c.-74-4219_-74-4206delGTCTCCCGTCTCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460817	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG01891.hp2 others(17): Show HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0002c0006 a0003c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0038 a0001c0001t0040 a0001c0002t0001 a0001c0002t0006 a0001c0002t0016 a0001c0010t0006 a0002c0004t0001 a0002c0004t0015 a0002c0004t0039 a0002c0006t0001 a0003c0011t0004	a0001c0001t0003g0013 a0001c0001t0003g0118 a0001c0001t0004g0116 others(17): Show a0001c0001t0003g0013 a0001c0001t0003g0118 a0001c0001t0004g0116 a0001c0001t0005g0140 a0001c0001t0011g0165 a0001c0001t0038g0177 a0001c0001t0040g0139 a0001c0002t0001g0078 a0001c0002t0001g0096 a0001c0002t0001g0109 a0001c0002t0006g0158 a0001c0002t0006g0169 a0001c0002t0016g0049 a0001c0010t0006g0161 a0002c0004t0001g0069 a0002c0004t0015g0070 a0002c0004t0039g0186 a0002c0006t0001g0048 a0002c0006t0001g0100 a0003c0011t0004g0119	20	188	0.1064	-14	c.-75 others(33): Show c.-75+23178_-75+23191delATTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43593669	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01243.hp2 others(50): Show HG00621.hp1 HG00738.hp2 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03579.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp1 NA19043.hp2 NA19062.hp1 NA19063.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0042 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029 a0001c0005t0003 a0001c0009t0001 a0002c0004t0024	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(50): Show a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0002g0115 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0123 a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0005g0140 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0157 a0001c0001t0010g0027 a0001c0001t0017g0054 a0001c0001t0017g0075 a0001c0001t0022g0005 a0001c0001t0026g0092 a0001c0001t0028g0024 a0001c0001t0030g0150 a0001c0001t0033g0156 a0001c0001t0042g0188 a0001c0002t0001g0014 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0094 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0006g0143 a0001c0002t0029g0002 a0001c0005t0003g0052 a0001c0009t0001g0133 a0002c0004t0024g0051	53	188	0.2819	-14	c.-21 others(35): Show c.-219+73796_-219+73809delGTGTGTGTGTGTGT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43640869	TGCACACA others(7): Show TGCACACACACACGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0007 a0001c0001t0020g0007	1	188	0.0053	-14	c.-21 others(35): Show c.-219+26596_-219+26609delGCGTGTGTGTGTGC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43681686	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA20300.hp1 HG03942.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0047 a0001c0001t0008g0025 a0001c0001t0008g0047	2	188	0.0106	-14	c.-28 others(35): Show c.-284-14156_-284-14143delGTGTGTGTGTGTGT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02055.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0091 a0001c0002t0001g0046 a0001c0001t0008g0091 a0001c0002t0001g0046	2	188	0.0106	-14	c.-42 others(25): Show c.-4230_-4217delTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790618	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	188	0.0053	-14	c.-42 others(25): Show c.-4265_-4252delCTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3647		chr13	TogoVar
ENOX2_chrX_130617325_130908209	130617528	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	154	0.0065	-14	c.77 others(25): Show c.7772_*7785delGAAAGAAAGAAAGA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding		4796		chrX	TogoVar
ENOX2_chrX_130617325_130908209	130644640	AAAAGGCT others(7): Show AAAAGGCTACATACT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	154	0.0065	-14	c.113 others(33): Show c.1130-7244_1130-7231delAGTATGTAGCCTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130649043	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG01496.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0001g0008 a0001c0001t0001g0122	2	154	0.0130	-14	c.112 others(33): Show c.1129+7524_1129+7537delTTTTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130682583	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG01496.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0001g0008 a0001c0001t0001g0122	2	154	0.0130	-14	c.254 others(31): Show c.254-2849_254-2836delTTTTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	5/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130760785	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	154	0.0065	-14	c.-39 others(33): Show c.-39+22748_-39+22761delTTTTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	3/14			chrX	TogoVar
ENPP1_chr6_131803020_131900155	131837172	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0152 a0002c0002t0019g0152	1	292	0.0034	-14	c.241 others(33): Show c.241-10576_241-10563delGTGTGTGTGTGTGT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131896227	AACACACA others(7): Show AACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(13): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp2 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01361.hp2 HG02004.hp2 HG02735.hp2 HG03834.hp2 NA18939.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0020 a0001c0001 a0002c0002 a0011c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0048 a0001c0001t0084 a0001c0001t0087 a0002c0002t0004 a0002c0002t0081 a0011c0020t0051	a0001c0001t0001g0051 a0001c0001t0001g0149 a0001c0001t0002g0144 others(13): Show a0001c0001t0001g0051 a0001c0001t0001g0149 a0001c0001t0002g0144 a0001c0001t0014g0244 a0001c0001t0014g0245 a0001c0001t0014g0254 a0001c0001t0027g0101 a0001c0001t0048g0095 a0001c0001t0084g0102 a0001c0001t0087g0077 a0002c0002t0004g0019 a0002c0002t0004g0078 a0002c0002t0004g0202 a0002c0002t0004g0206 a0002c0002t0081g0041 a0011c0020t0051g0191	16	292	0.0548	-14	c.57 others(25): Show c.5717_*5730delACACACACACACAC	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding		1073		chr6	TogoVar
ENPP2_chr8_119552086_119643839	119556238	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00642.hp2 others(20): Show HG00099.hp2 HG00140.hp1 HG00642.hp2 HG00733.hp1 HG01106.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01981.hp1 HG02015.hp1 HG02135.hp1 HG02602.hp1 HG03239.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18964.hp2 NA19077.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0005 a0001c0006 a0001c0016 others(2): Show a0001c0005 a0001c0006 a0001c0016 a0010c0019 a0011c0022	a0001c0005t0001 a0001c0006t0001 a0001c0016t0001 others(2): Show a0001c0005t0001 a0001c0006t0001 a0001c0016t0001 a0010c0019t0001 a0011c0022t0001	a0001c0005t0001g0032 a0001c0005t0001g0046 a0001c0005t0001g0070 others(20): Show a0001c0005t0001g0032 a0001c0005t0001g0046 a0001c0005t0001g0070 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0005t0001g0171 a0001c0005t0001g0209 a0001c0005t0001g0247 a0001c0005t0001g0288 a0001c0005t0001g0291 a0001c0005t0001g0312 a0001c0006t0001g0148 a0001c0006t0001g0287 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0301 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0311 a0001c0016t0001g0033 a0010c0019t0001g0208 a0011c0022t0001g0224	23	340	0.0677	-14	c.12 others(25): Show c.1269_*1282delCACACACACACACA	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding		847		chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)