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
ERFL_chr19_41902704_41933449	41915472	TTCTGTGT others(9): Show TTCTGTGTCCCCACGTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	330	0.0030	-16	c.-13 others(33): Show c.-13-2556_-13-2541delGACGTGGGGACACAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERG28_chr14_75644791_75665876	75645033	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	420	0.0024	-16	c.65 others(27): Show c.6506_*6521delACACACACACACACAC	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding		4757		chr14	TogoVar
ERGIC1_chr5_172829251_172957683	172893868	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0099 a0001c0001t0011g0099	1	334	0.0030	-16	c.83- others(31): Show c.83-3111_83-3096delATATATATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35539402	TTATATAT others(9): Show TTATATATAACAGTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	364	0.0028	-16	c.-26 others(27): Show c.-2695_-2680delTATATATAACAGTTTA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2675		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35544013	ACTATCTA others(9): Show ACTATCTATCTATCTAT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19054.hp1 NA18955.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	364	0.0055	-16	c.367 others(33): Show c.367+1107_367+1122delATCTATCTATCTATCT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ERG_chr21_38375036_38503477	38424181	GCTCGAGC others(9): Show GCTCGAGCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp1 NA20129.hp1 HG03041.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0265 a0001c0001t0002g0349 a0001c0001t0002g0350	3	360	0.0083	-16	c.237 others(31): Show c.237-636_237-621delAGAGAGAGAGCTCGAG	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38446226	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01169.hp2 HG01496.hp2 others(6): Show HG00323.hp2 HG01169.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG02257.hp1 HG02698.hp2 HG02735.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0191 others(6): Show a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0191 a0001c0001t0001g0234 a0001c0001t0001g0291 a0001c0001t0003g0208 a0001c0001t0004g0024 a0001c0001t0004g0031 a0001c0001t0023g0339	9	360	0.0250	-16	c.19- others(29): Show c.19-621_19-606delTTTTTTTTTTTTTTTT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38468986	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	360	0.0028	-16	c.19- others(33): Show c.19-23381_19-23366delCTTTTTTTTTTTTTTT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0336 a0002c0003t0016g0336	1	426	0.0024	-16	c.109 others(28): Show c.109-21_109-6delTTTTTTTTTTTTTTTT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44281878	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	340	0.0029	-16	c.831 others(33): Show c.831+2941_831+2956delCACACACACACACACA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44310963	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02004.hp2 others(8): Show HG01167.hp2 HG01169.hp1 HG02004.hp2 HG02027.hp2 HG02293.hp2 HG02523.hp2 NA18943.hp2 NA18945.hp1 NA18962.hp1 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 others(8): Show a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0261 a0001c0001t0001g0262	11	340	0.0324	-16	c.666 others(33): Show c.666+2190_666+2205delTGTGTGTGTGTGTGTG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342845	ATATATAT others(9): Show ATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	340	0.0029	-16	c.212 others(33): Show c.212-3539_212-3524delAAAATATATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342857	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	340	0.0029	-16	c.212 others(33): Show c.212-3551_212-3536delAAAAAAAAAAAAAAAA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44352405	CATAGATA others(9): Show CATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01256.hp1 others(13): Show HG00642.hp2 HG01074.hp2 HG01256.hp1 HG01433.hp2 HG02622.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03471.hp1 HG03654.hp2 NA18944.hp1 NA18977.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0122 others(13): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0003t0001g0214	16	340	0.0471	-16	c.211 others(31): Show c.211+429_211+444delCTATCTATCTATCTAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98079153	CTTTTTTT others(9): Show CTTTTTTTTTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	442	0.0023	-16	c.59- others(31): Show c.59-9911_59-9896delCCTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00558.hp2 others(118): Show HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0013	a0001c0001 a0002c0002 a0008c0008 others(2): Show a0001c0001 a0002c0002 a0008c0008 a0010c0011 a0013c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0008c0008t0002 a0010c0011t0001 a0013c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0306 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0374 a0001c0001t0001g0382 a0001c0001t0001g0388 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0001t0001g0404 a0001c0001t0001g0412 a0001c0001t0001g0426 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0239 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0292 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0338 a0001c0001t0002g0373 a0001c0001t0002g0378 a0001c0001t0002g0385 a0001c0001t0002g0386 a0001c0001t0002g0391 a0001c0001t0002g0392 a0001c0001t0002g0397 a0001c0001t0002g0427 a0001c0001t0003g0031 a0001c0001t0005g0054 a0001c0001t0006g0030 a0002c0002t0001g0369 a0008c0008t0002g0102 a0010c0011t0001g0126 a0013c0007t0002g0155	121	442	0.2738	-16	c.59- others(31): Show c.59-3913_59-3898delTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606499	GTATGTGT others(9): Show GTATGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03540.hp1 HG02735.hp1 HG03540.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0013 a0002c0002 a0012c0013	a0002c0002t0001 a0012c0013t0002 a0002c0002t0001 a0012c0013t0002	a0002c0002t0001g0133 a0012c0013t0002g0194 a0002c0002t0001g0133 a0012c0013t0002g0194	2	326	0.0061	-16	c.-59 others(33): Show c.-59+1049_-59+1064delTATATATATACACATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606535	ATATATAT others(9): Show ATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0040 a0003c0003 a0001c0040 a0003c0003	a0001c0040t0001 a0003c0003t0001 a0001c0040t0001 a0003c0003t0001	a0001c0040t0001g0045 a0003c0003t0001g0046 a0001c0040t0001g0045 a0003c0003t0001g0046	2	326	0.0061	-16	c.-59 others(33): Show c.-59+1013_-59+1028delAAAATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606537	ATATATAT others(9): Show ATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0050 a0006c0006t0002g0050	1	326	0.0031	-16	c.-59 others(33): Show c.-59+1011_-59+1026delAAAAAATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6_chr3_150654885_150708920	150708340	GCACAGGC others(9): Show GCACAGGCTGGTCTTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	348	0.0029	-16	c.-44 others(27): Show c.-4458_-4443delTCAAGACCAGCCTGTG	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding		4421		chr3	TogoVar
ERLIN2_chr8_37731634_37763422	37734461	CAGGAAGG others(9): Show CAGGAAGGAAGGAAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0068 a0001c0001t0029g0068	1	224	0.0045	-16	c.-22 others(27): Show c.-2232_-2217delAGGAAGGAAGGAAGGA	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2172		chr8	TogoVar
ERN2_chr16_23685310_23718222	23708347	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	412	0.0024	-16	c.307 others(33): Show c.307-1284_307-1269delAAAAAAAAAAAAAAAA	ERN2	ENSG00000134398.15	transcript	ENST00000256797.9	protein_coding	4/21			chr16	TogoVar
ERO1B_chr1_236210101_236286958	236245574	ATATATAT others(9): Show ATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19043.hp1 HG01243.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0021 a0003c0004t0025 a0001c0001t0021 a0003c0004t0025	a0001c0001t0021g0019 a0003c0004t0025g0018 a0001c0001t0021g0019 a0003c0004t0025g0018	2	396	0.0051	-16	c.432 others(33): Show c.432-2095_432-2080delAAAAAAAAAATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERRFI1_chr1_8006727_8031309	8007442	ACTCTCTC others(9): Show ACTCTCTCTCTCTCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02293.hp2 HG01192.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0001g0015 a0001c0001t0001g0071	2	402	0.0050	-16	c.57 others(27): Show c.5752_*5767delAGAGAGAGAGAGAGAG	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4284		chr1	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(9): Show TTATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02809.hp2 HG02922.hp2 others(15): Show HG02074.hp2 HG02809.hp2 HG02922.hp2 HG03942.hp2 HG04199.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18975.hp1 NA18991.hp1 NA19030.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19089.hp2 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0005t0002 a0003c0003t0001 others(1): Show a0001c0001t0002 a0001c0005t0002 a0003c0003t0001 a0004c0004t0004	a0001c0001t0002g0004 a0001c0001t0002g0067 a0001c0001t0002g0070 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0005t0002g0037 a0001c0005t0002g0063 a0003c0003t0001g0003 a0004c0004t0004g0006 a0004c0004t0004g0127	18	458	0.0393	-16	c.17 others(27): Show c.1753_*1768delTATATATATATATATA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		912		chr7	TogoVar
ERVH48-1_chr21_42911803_42930630	42929185	GTTTCTTT others(9): Show GTTTCTTTTTTTCTTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02735.hp1 HG03579.hp1 HG02572.hp2 HG02735.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	3	420	0.0071	-16	c.-41 others(27): Show c.-4141_-4126delGAAAGAAAAAAAGAAA	ERVH48-1	ENSG00000233056.4	transcript	ENST00000447535.2	protein_coding		3556		chr21	TogoVar
ERVMER34-1_chr4_52737553_52756425	52741154	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	392	0.0026	-16	c.26 others(27): Show c.2659_*2674delTTTCTTTCTTTCTTTC	ERVMER34-1	ENSG00000226887.8	transcript	ENST00000443173.6	protein_coding		1398		chr4	TogoVar
ESCO1_chr18_21524284_21605704	21579790	GCGCGCAC others(9): Show GCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0165 a0003c0005t0002g0166 a0003c0005t0002g0167 a0003c0005t0002g0165 a0003c0005t0002g0166 a0003c0005t0002g0167	3	310	0.0097	-16	c.-69 others(35): Show c.-693-4029_-693-4014delTGTGTGTGTGTGCGCG	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	2/11			chr18	TogoVar
ESCO1_chr18_21524284_21605704	21579792	GCGCACAC others(9): Show GCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00738.hp2 others(18): Show HG00280.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01168.hp2 HG01361.hp2 HG02109.hp2 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 NA18957.hp2 NA19002.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0001 a0002c0002t0012 a0001c0003t0002 a0002c0002t0001 a0002c0002t0012	a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0164 others(16): Show a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0164 a0001c0003t0002g0169 a0001c0003t0002g0174 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0208 a0002c0002t0001g0243 a0002c0002t0012g0195	21	310	0.0677	-16	c.-69 others(35): Show c.-693-4031_-693-4016delTGTGTGTGTGTGTGCG	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	2/11			chr18	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0250 a0001c0001t0046g0250	1	380	0.0026	-16	c.18 others(27): Show c.1864_*1879delAAAAAAAAAAAAAAAA	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESD_chr13_46766256_46802161	46801218	GATCTATC others(9): Show GATCTATCTATCTATCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	406	0.0025	-16	c.-41 others(27): Show c.-4185_-4170delAGATAGATAGATAGAT	ESD	ENSG00000139684.15	transcript	ENST00000378720.8	protein_coding		4058		chr13	TogoVar
ESPL1_chr12_53263299_53298638	53273836	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0050 a0005c0009t0001g0050	1	334	0.0030	-16	c.150 others(33): Show c.1507-966_1507-951delTTTTTTTTTTTTTTTT	ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPNL_chr2_238095340_238138287	238097372	GTGCCCGA others(9): Show GTGCCCGAGCAGCGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00673.hp1 others(70): Show HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG02055.hp1 HG02074.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0021 a0023 a0040 a0041	a0001c0005 a0001c0008 a0001c0043 others(17): Show a0001c0005 a0001c0008 a0001c0043 a0002c0001 a0002c0004 a0002c0085 a0003c0009 a0003c0010 a0003c0013 a0003c0089 a0004c0017 a0005c0007 a0005c0078 a0005c0087 a0006c0006 a0008c0023 a0021c0055 a0023c0065 a0040c0093 a0041c0092	a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 others(22): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0008t0004 a0001c0043t0004 a0002c0001t0002 a0002c0004t0002 a0002c0004t0007 a0002c0085t0007 a0003c0009t0006 a0003c0010t0001 a0003c0010t0012 a0003c0013t0001 a0003c0089t0012 a0004c0017t0005 a0005c0007t0008 a0005c0078t0001 a0005c0087t0001 a0006c0006t0003 a0008c0023t0010 a0008c0023t0018 a0021c0055t0003 a0023c0065t0003 a0040c0093t0004 a0041c0092t0013	a0001c0005t0001g0122 a0001c0005t0003g0009 a0001c0005t0003g0052 others(60): Show a0001c0005t0001g0122 a0001c0005t0003g0009 a0001c0005t0003g0052 a0001c0005t0003g0090 a0001c0005t0003g0098 a0001c0005t0003g0100 a0001c0005t0003g0112 a0001c0005t0003g0113 a0001c0005t0006g0093 a0001c0008t0004g0004 a0001c0008t0004g0011 a0001c0008t0004g0024 a0001c0008t0004g0085 a0001c0008t0004g0097 a0001c0008t0004g0105 a0001c0043t0004g0118 a0002c0001t0002g0151 a0002c0004t0002g0004 a0002c0004t0002g0010 a0002c0004t0002g0011 a0002c0004t0002g0024 a0002c0004t0002g0043 a0002c0004t0002g0095 a0002c0004t0002g0101 a0002c0004t0002g0103 a0002c0004t0002g0106 a0002c0004t0002g0109 a0002c0004t0002g0111 a0002c0004t0002g0115 a0002c0004t0007g0125 a0002c0085t0007g0092 a0003c0009t0006g0056 a0003c0009t0006g0062 a0003c0010t0001g0031 a0003c0010t0001g0099 a0003c0010t0001g0116 a0003c0010t0012g0195 a0003c0013t0001g0144 a0003c0089t0012g0119 a0004c0017t0005g0011 a0004c0017t0005g0012 a0004c0017t0005g0117 a0004c0017t0005g0121 a0005c0007t0008g0053 a0005c0007t0008g0104 a0005c0078t0001g0198 a0005c0087t0001g0054 a0006c0006t0003g0004 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0006t0003g0102 a0006c0006t0003g0120 a0006c0006t0003g0126 a0008c0023t0010g0091 a0008c0023t0010g0110 a0008c0023t0010g0123 a0008c0023t0010g0127 a0008c0023t0010g0162 a0008c0023t0018g0096 a0021c0055t0003g0124 a0023c0065t0003g0094 a0040c0093t0004g0004 a0041c0092t0013g0107	73	408	0.1789	-16	c.-30 others(27): Show c.-3047_-3032delTGCCCGAGCAGCGGCC	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		2967		chr2	TogoVar
ESR1_chr6_151802682_152108274	151813216	CCTCAAAA others(9): Show CCTCAAAAAATATAGGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG02056.hp1 others(14): Show HG00423.hp2 HG00673.hp1 HG02056.hp1 HG02155.hp1 HG02602.hp1 HG02683.hp2 HG02809.hp1 HG03490.hp2 HG03688.hp1 HG03834.hp1 NA18957.hp2 NA18979.hp1 NA18994.hp1 NA19062.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(1): Show a0001c0002 a0001c0005 a0001c0006 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0005t0001 a0001c0005t0007 a0001c0005t0021 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002	a0001c0002t0001g0224 a0001c0002t0001g0229 a0001c0002t0001g0244 others(14): Show a0001c0002t0001g0224 a0001c0002t0001g0229 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0002g0222 a0001c0002t0002g0231 a0001c0002t0003g0221 a0001c0002t0004g0233 a0001c0002t0005g0223 a0001c0005t0001g0230 a0001c0005t0007g0226 a0001c0005t0021g0227 a0001c0006t0002g0234 a0001c0007t0001g0228 a0001c0007t0001g0232 a0001c0007t0002g0225	17	250	0.0680	-16	c.452 others(33): Show c.452+4853_452+4868delCTCAAAAAATATAGGA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	1/7			chr6	TogoVar
ESR1_chr6_151802682_152108274	151881882	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18965.hp1 NA18962.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0002 a0002c0009t0006 a0001c0004t0002 a0002c0009t0006	a0001c0004t0002g0101 a0002c0009t0006g0200 a0001c0004t0002g0101 a0002c0009t0006g0200	2	250	0.0080	-16	c.760 others(33): Show c.760+1146_760+1161delTAAATAAATAAATAAA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	152093338	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0200 a0002c0009t0006g0200	1	250	0.0040	-16	c.137 others(35): Show c.1370-1031_1370-1016delTTCTCTCTCTCTCTCT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94681325	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG03130.hp2 others(1): Show HG02572.hp2 HG02809.hp1 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0183 others(1): Show a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0183 a0001c0005t0001g0184	4	374	0.0107	-16	c.182 others(35): Show c.1820+2967_1820+2982delAAAAAAAAAAAAAAAA	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRA_chr11_64300524_64321743	64321272	GGGGGAGA others(9): Show GGGGGAGAGTCCTCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	388	0.0026	-16	c.53 others(27): Show c.5307_*5322delGGGGAGAGTCCTCTGT	ESRRA	ENSG00000173153.17	transcript	ENST00000000442.11	protein_coding		4530		chr11	TogoVar
ESRRB_chr14_76371137_76506837	76447243	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00544.hp1 others(35): Show HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00642.hp1 HG01071.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02165.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA18975.hp2 NA18984.hp2 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19087.hp1 NA19088.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0013 a0001c0001 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0002c0003t0003 a0002c0003t0004 a0005c0013t0002	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(35): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0259 a0001c0001t0001g0314 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0311 a0001c0001t0005g0216 a0001c0001t0006g0306 a0001c0001t0007g0125 a0001c0001t0007g0183 a0001c0001t0007g0315 a0001c0001t0010g0156 a0001c0001t0020g0123 a0001c0001t0025g0197 a0001c0001t0026g0215 a0001c0001t0035g0094 a0002c0003t0003g0115 a0002c0003t0004g0063 a0005c0013t0002g0159	38	318	0.1195	-16	c.460 others(33): Show c.460+7536_460+7551delCTTCCTTCCTTCCTTC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216541561	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02258.hp2 others(8): Show HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03471.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0005 a0001c0001t0018 a0001c0003t0004 others(1): Show a0001c0001t0005 a0001c0001t0018 a0001c0003t0004 a0001c0006t0005	a0001c0001t0005g0043 a0001c0001t0005g0231 a0001c0001t0018g0216 others(8): Show a0001c0001t0005g0043 a0001c0001t0005g0231 a0001c0001t0018g0216 a0001c0003t0004g0018 a0001c0003t0004g0030 a0001c0003t0004g0032 a0001c0003t0004g0080 a0001c0003t0004g0082 a0001c0003t0004g0084 a0001c0003t0004g0240 a0001c0006t0005g0092	11	286	0.0385	-16	c.863 others(35): Show c.863-22156_863-22141delACACACACACACACAC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	5/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569081	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01167.hp2 others(12): Show HG00323.hp1 HG01070.hp1 HG01167.hp2 HG01168.hp2 HG01258.hp2 HG01261.hp2 HG01516.hp2 HG01993.hp1 HG02559.hp2 HG02698.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0077 others(12): Show a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0013 a0001c0001t0020g0041 a0001c0002t0002g0019 a0001c0002t0002g0076 a0001c0002t0008g0046	15	286	0.0525	-16	c.590 others(31): Show c.590-999_590-984delCCTTCCTTCCTTCCTT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216680981	AAGAGAAT others(9): Show AAGAGAATAAGCCCAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA20905.hp2 HG03017.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0246 a0001c0001t0003g0252 a0001c0001t0001g0246 a0001c0001t0003g0252	2	286	0.0070	-16	c.57- others(31): Show c.57-3506_57-3491delATTGGGCTTATTCTCT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESX1_chrX_104245038_104259933	104255303	ACGAGGGG others(9): Show ACGAGGGGGCGAGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02965.hp1 HG03130.hp1 others(2): Show HG02897.hp1 HG02965.hp1 HG03130.hp1 NA18906.hp1 NA19070.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 a0001c0001t0001 a0002c0002t0001 a0006c0006t0001	a0001c0001t0001g0067 a0002c0002t0001g0027 a0006c0006t0001g0007 a0001c0001t0001g0067 a0002c0002t0001g0027 a0006c0006t0001g0007	5	313	0.0160	-16	c.-47 others(25): Show c.-470_-455delCCCCCTCGCCCCCTCG	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding		371		chrX	TogoVar
ESYT1_chr12_56123267_56149674	56146061	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0140 a0001c0002t0007g0140	1	370	0.0027	-16	c.22 others(27): Show c.2200_*2215delAAAAAAAAAAAAAAAA	ESYT1	ENSG00000139641.13	transcript	ENST00000394048.10	protein_coding		1388		chr12	TogoVar
ESYT2_chr7_158725997_158834509	158731892	CACATCTG others(9): Show CACATCTGGGAGGCACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03225.hp2 others(2): Show HG02572.hp1 HG02723.hp1 HG03225.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0019 a0001c0006 a0001c0007 a0001c0019	a0001c0006t0011 a0001c0007t0036 a0001c0019t0032 a0001c0006t0011 a0001c0007t0036 a0001c0019t0032	a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 others(2): Show a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 a0001c0007t0036g0032 a0001c0019t0032g0222	5	370	0.0135	-16	c.22 others(27): Show c.2299_*2314delAGTGCCTCCCAGATGT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	23/23	2299		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158738328	TACACACA others(9): Show TACACACACACACACAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02155.hp1 others(8): Show HG00408.hp1 HG02015.hp1 HG02155.hp1 HG03139.hp2 NA18954.hp1 NA18957.hp1 NA18964.hp2 NA18979.hp2 NA18998.hp1 NA19064.hp1 NA19087.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0015 a0003c0003 a0008c0015	a0003c0003t0004 a0003c0003t0005 a0008c0015t0004 a0003c0003t0004 a0003c0003t0005 a0008c0015t0004	a0003c0003t0004g0336 a0003c0003t0004g0339 a0003c0003t0004g0340 others(8): Show a0003c0003t0004g0336 a0003c0003t0004g0339 a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0003t0004g0344 a0003c0003t0004g0347 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0360 a0003c0003t0005g0361 a0008c0015t0004g0342	11	370	0.0297	-16	c.226 others(33): Show c.2267+679_2267+694delCTGTGTGTGTGTGTGT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	19/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158785425	CAAAATAA others(9): Show CAAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02258.hp1 others(2): Show HG01257.hp1 HG01258.hp2 HG02258.hp1 HG02615.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0002c0002t0001 a0002c0002t0006 a0002c0002t0012	a0002c0002t0001g0181 a0002c0002t0006g0003 a0002c0002t0006g0184 others(1): Show a0002c0002t0001g0181 a0002c0002t0006g0003 a0002c0002t0006g0184 a0002c0002t0012g0183	5	370	0.0135	-16	c.747 others(33): Show c.747+2563_747+2578delTTTATTTATTTATTTT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	6/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158785426	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0173 a0001c0014t0015g0174 a0001c0014t0015g0173 a0001c0014t0015g0174	2	370	0.0054	-16	c.747 others(33): Show c.747+2562_747+2577delATTTATTTATTTATTT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	6/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158814331	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18993.hp1 NA19090.hp1 others(1): Show HG03710.hp1 NA18993.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0016 a0002c0002t0002 a0002c0002t0040 a0001c0008t0016 a0002c0002t0002 a0002c0002t0040	a0001c0008t0016g0223 a0002c0002t0002g0254 a0002c0002t0002g0290 others(1): Show a0001c0008t0016g0223 a0002c0002t0002g0254 a0002c0002t0002g0290 a0002c0002t0040g0255	4	370	0.0108	-16	c.330 others(35): Show c.330+14742_330+14757delCATATATATATATATA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETF1_chr5_138501095_138548236	138501222	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02818.hp2 HG03516.hp1 others(1): Show HG01243.hp2 HG02818.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0003t0001g0050	4	334	0.0120	-16	c.70 others(27): Show c.7067_*7082delTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)