Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF2AK2_chr2_37094210_37161980	37161237	AGAAAGAA others(17): Show AGAAAGAAAGAGAAAGAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	326	0.0031	-24	c.-45 others(35): Show c.-4537_-4514delCTTTCTTTTCTTTCTCTTTCTTTC	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4258		chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37161253	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01069.hp1 others(32): Show HG00621.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG02004.hp2 HG02080.hp1 HG02300.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03688.hp1 HG04184.hp2 NA18943.hp1 NA18949.hp1 NA18953.hp1 NA18961.hp2 NA18962.hp1 NA18977.hp1 NA18984.hp2 NA19055.hp2 NA19060.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 a0001c0001t0061 a0001c0001t0062 a0001c0001t0074	a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 others(31): Show a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0003g0002 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0134 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0155 a0001c0001t0005g0118 a0001c0001t0005g0129 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0145 a0001c0001t0005g0165 a0001c0001t0007g0025 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0016g0086 a0001c0001t0020g0120 a0001c0001t0020g0124 a0001c0001t0020g0135 a0001c0001t0027g0093 a0001c0001t0028g0117 a0001c0001t0028g0149 a0001c0001t0036g0017 a0001c0001t0061g0170 a0001c0001t0062g0152 a0001c0001t0074g0317	35	326	0.1074	-24	c.-45 others(35): Show c.-4553_-4530delCTTTCTTTCTTTCTTTCTTTCTTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4274		chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	39993052	CCATCCAT others(17): Show CCATCCATCCATCCATCCATCCATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01069.hp2 others(8): Show HG00140.hp2 HG00639.hp1 HG01069.hp2 HG01081.hp2 HG01255.hp2 HG01975.hp1 HG02055.hp1 HG02622.hp2 HG03041.hp1 HG03704.hp2 HG03927.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0022 others(7): Show a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0271 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0361 a0003c0003t0001g0344	11	368	0.0299	-24	c.276 others(41): Show c.2766+228_2766+251delTCATCCATCCATCCATCCATCCAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	18/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02258.hp1 others(3): Show HG00140.hp1 HG01884.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp2 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0031 others(2): Show a0001c0001 a0001c0005 a0002c0031 a0003c0003 a0003c0010	a0001c0001t0003 a0001c0005t0001 a0002c0031t0009 others(2): Show a0001c0001t0003 a0001c0005t0001 a0002c0031t0009 a0003c0003t0001 a0003c0010t0001	a0001c0001t0003g0176 a0001c0005t0001g0247 a0002c0031t0009g0045 others(3): Show a0001c0001t0003g0176 a0001c0005t0001g0247 a0002c0031t0009g0045 a0003c0003t0001g0344 a0003c0010t0001g0047 a0003c0010t0001g0048	6	368	0.0163	-24	c.406 others(41): Show c.4065+289_4065+312delATATATATATATATATATATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B4_chr2_27359352_27375338	27359494	AGAAGTGA others(17): Show AGAAGTGAGGAGCCACCCCATCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02572.hp1 HG03486.hp1 HG01074.hp1 HG02572.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0056 a0001c0001t0001g0006 a0001c0001t0001g0056	3	378	0.0079	-24	c.48 others(35): Show c.4882_*4905delCCAGATGGGGTGGCTCCTCACTTC	EIF2B4	ENSG00000115211.17	transcript	ENST00000347454.9	protein_coding		4857		chr2	TogoVar
EIF2D_chr1_206586642_206617465	206593508	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	426	0.0024	-24	c.168 others(40): Show c.1684+87_1684+110delACACACACACACACACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504456	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0000 a0011c0014t0001g0000	1	422	0.0024	-24	c.-14 others(35): Show c.-1446_-1423delATATATATATATATATATATATAT	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1433		chr12	TogoVar
EIF3D_chr22_36505855_36534166	36514056	GACAGCAA others(17): Show GACAGCAAAGCCTTCTATTTTGCTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02630.hp1 others(9): Show HG01884.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0002t0001g0010 a0001c0002t0001g0052 others(6): Show a0001c0001t0001g0066 a0001c0002t0001g0010 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0078 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0117	12	400	0.0300	-24	c.120 others(43): Show c.1207-1478_1207-1455delTAGCAAAATAGAAGGCTTTGCTGT	EIF3D	ENSG00000100353.18	transcript	ENST00000216190.13	protein_coding	12/14			chr22	TogoVar
EIF3H_chr8_116637130_116760823	116752665	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03471.hp1 NA19055.hp1 HG01978.hp1 HG03471.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0158 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0001g0158 a0001c0001t0003g0013 a0001c0001t0003g0029	3	336	0.0089	-24	c.132 others(41): Show c.132+2977_132+3000delTCTTTCTTTCTTTCTTTCTTTCTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02809.hp1 others(4): Show HG01257.hp1 HG01258.hp1 HG02809.hp1 NA18991.hp1 NA18995.hp2 NA19030.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001	a0001c0001t0001g0008 a0001c0002t0001g0002 a0001c0002t0003g0002 others(2): Show a0001c0001t0001g0008 a0001c0002t0001g0002 a0001c0002t0003g0002 a0001c0004t0001g0005 a0001c0004t0001g0014	7	436	0.0161	-24	c.-10 others(34): Show c.-1004_-981delTATATATATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571886	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18961.hp1 NA18956.hp1 NA18961.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	2	436	0.0046	-24	c.-95 others(33): Show c.-955_-932delATATATATATATATATATATATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		938		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571888	TATATATA others(17): Show TATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18991.hp2 HG03834.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0009 a0001c0001t0001g0023	2	436	0.0046	-24	c.-95 others(33): Show c.-953_-930delATATATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		936		chr17	TogoVar
EIF4E3_chr3_71670414_71730402	71714249	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp1 NA19240.hp1 HG02257.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0033 a0001c0001t0001 a0001c0001t0031 a0001c0001t0033	a0001c0001t0001g0021 a0001c0001t0031g0020 a0001c0001t0033g0019 a0001c0001t0001g0021 a0001c0001t0031g0020 a0001c0001t0033g0019	3	398	0.0075	-24	c.177 others(41): Show c.177-3789_177-3766delTTTCCTTCCTTCCTTCCTTCCTTC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	1/6			chr3	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450844	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG03471.hp2 HG02055.hp1 HG03130.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0262 a0001c0001t0001g0264 a0003c0011t0001g0263 a0001c0001t0001g0262 a0001c0001t0001g0264 a0003c0011t0001g0263	3	366	0.0082	-24	c.151 others(41): Show c.1513-508_1513-485delGTGTGTGTGTGTGTGTGTGTGTGT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98917113	CACACACA others(17): Show CACACACACACACACACACACAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19080.hp2 HG01123.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0039 a0001c0001t0001g0011 a0001c0001t0002g0039	2	300	0.0067	-24	c.18+ others(41): Show c.18+11958_18+11981delTTTTGTGTGTGTGTGTGTGTGTGT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	ATTTTTTT others(17): Show ATTTTTTTTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	312	0.0032	-24	c.824 others(41): Show c.824-1661_824-1638delACACACACACACACACAAAAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943970	TTTTTTGT others(17): Show TTTTTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	312	0.0032	-24	c.824 others(41): Show c.824-1664_824-1641delCACACACACACACACACACAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943974	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	312	0.0032	-24	c.824 others(41): Show c.824-1668_824-1645delCACACACACACACACACACACACA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp2 HG03139.hp2 others(2): Show HG00408.hp2 HG02056.hp2 HG03139.hp2 HG03209.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0198 a0001c0001t0001g0227 a0001c0001t0005g0265	5	374	0.0134	-24	c.60- others(37): Show c.60-794_60-771delTTTTTTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3247028	CGAGGGAG others(17): Show CGAGGGAGGGAGAGAGGGAGGGAGA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	250	0.0040	-24	c.416 others(43): Show c.416+10247_416+10270delTCTCCCTCCCTCTCTCCCTCCCTC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3311686	GTCCAGTC others(17): Show GTCCAGTCACAGGGCGCCAGGGGCC	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	250	0.0040	-24	c.259 others(43): Show c.259+26307_259+26330delGGCCCCTGGCGCCCTGTGACTGGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022536	ATTTCTTT others(17): Show ATTTCTTTCTTTCTCTCTTTCTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG03834.hp1 HG03942.hp2 HG00280.hp2 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0020 a0001c0001t0001 a0001c0001t0011 a0001c0001t0020	a0001c0001t0001g0003 a0001c0001t0011g0024 a0001c0001t0020g0250 a0001c0001t0001g0003 a0001c0001t0011g0024 a0001c0001t0020g0250	3	400	0.0075	-24	c.-46 others(35): Show c.-4613_-4590delGAAAGAAAGAGAGAAAGAAAGAAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022598	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTGTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	400	0.0025	-24	c.-46 others(35): Show c.-4675_-4652delGAGACAGAAAGAAAGAAAGAAAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4572		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	230	0.0044	-24	c.-76 others(33): Show c.-767_-744delAGAGAGAGAGAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905070	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04228.hp1 HG04204.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0082 a0001c0001t0001g0101	2	196	0.0102	-24	c.255 others(43): Show c.2558+2576_2558+2599delCTTCCTTCCTTCCTTCCTTCCTTC	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21			chr7	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02257.hp1 others(9): Show HG01433.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02809.hp2 HG02976.hp2 HG03516.hp1 HG03540.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0128 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0004g0088 a0001c0001t0004g0098 a0001c0001t0004g0146 a0001c0001t0004g0172 a0001c0001t0008g0132 a0001c0001t0008g0256 a0001c0001t0008g0257 a0001c0001t0013g0001 a0001c0002t0002g0025	12	352	0.0341	-24	c.713 others(41): Show c.713+1543_713+1566delAAAAAAAAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01516.hp1 HG01517.hp2 others(18): Show HG00280.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02056.hp2 HG02258.hp2 HG02622.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp1 NA18956.hp1 NA18968.hp1 NA18983.hp2 NA18993.hp2 NA19007.hp1 NA19055.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0124 others(18): Show a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0281 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0004g0307 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 a0001c0001t0011g0007	21	352	0.0597	-24	c.-15 others(43): Show c.-15-17754_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119036	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	276	0.0036	-24	c.9+9 others(37): Show c.9+9874_9+9897delGAAAGAAAGAAAGAAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50192519	GCACACAC others(17): Show GCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	276	0.0036	-24	c.355 others(41): Show c.355-1224_355-1201delACACACACACACACACACACACAC	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	40955471	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp2 HG02615.hp1 others(7): Show HG00609.hp1 HG01934.hp2 HG02615.hp1 HG03195.hp1 NA18952.hp2 NA18985.hp1 NA19001.hp1 NA19081.hp2 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0221 a0001c0001t0009g0220	10	362	0.0276	-24	c.253 others(41): Show c.253+3341_253+3364delAGTAGGGGCGGCCGGGCAGAGGCG	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139151032	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00621.hp2 others(47): Show HG00140.hp2 HG00323.hp1 HG00621.hp2 HG00738.hp2 HG01070.hp2 HG01106.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01993.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02738.hp1 HG03654.hp1 HG03688.hp2 HG04199.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA19000.hp2 NA19001.hp1 NA19009.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0251 a0001c0001t0002g0062 a0001c0001t0002g0109 others(47): Show a0001c0001t0001g0251 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0220 a0001c0001t0011g0190	50	342	0.1462	-24	c.-25 others(45): Show c.-251-11559_-251-11536delCTTTCTTTCTTTCTTTCTTTCTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1701071	ATGTGTGC others(17): Show ATGTGTGCGTGTGTGTGTGCGCGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0012g0211 a0001c0001t0012g0212	2	302	0.0066	-24	c.-45 others(43): Show c.-455-8011_-455-7988delTGTGTGTGTGCGCGTGTGTGTGCG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95920277	ATATTTAT others(17): Show ATATTTATTTATTTATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0047 a0001c0006t0004g0047	1	314	0.0032	-24	c.196 others(39): Show c.196-756_196-733delAATAAATAAATAAATAAATAAATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927376	CACACACG others(17): Show CACACACGTGTGTATATATAGACAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG02809.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0010 a0001c0001t0003g0011	2	314	0.0064	-24	c.196 others(41): Show c.196-7855_196-7832delATGTCTATATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927452	CACACACA others(17): Show CACACACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	314	0.0032	-24	c.196 others(41): Show c.196-7931_196-7908delATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950898	GTATGTGT others(17): Show GTATGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp2 HG01106.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0135 a0002c0002t0009g0118 a0002c0002t0001g0135 a0002c0002t0009g0118	2	314	0.0064	-24	c.148 others(41): Show c.148-7873_148-7850delTATATATATATATATATACACATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02055.hp2 others(19): Show HG01081.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0009 a0001c0012t0010 a0006c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0005 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0007t0009g0006 a0001c0007t0009g0007 a0001c0012t0010g0172 a0006c0011t0001g0171	22	244	0.0902	-24	c.136 others(43): Show c.136-18391_136-18368delAAAAAAAAAAAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18493211	TGGGGCTG others(17): Show TGGGGCTGGGGATCCCATCAGGGCA	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	244	0.0041	-24	c.136 others(43): Show c.136-20353_136-20330delTGCCCTGATGGGATCCCCAGCCCC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(17): Show GCGCACATACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01952.hp2 HG02293.hp2 others(5): Show HG01109.hp1 HG01952.hp2 HG02293.hp2 HG02976.hp2 HG03130.hp2 HG03540.hp1 NA19030.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0197 others(5): Show a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0233	8	244	0.0328	-24	c.135 others(43): Show c.135+12306_135+12329delTGTGTGTGTGTGTGTGTATGTGCG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(17): Show GCACATACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 HG02717.hp1 others(2): Show HG01123.hp1 HG02257.hp1 HG02717.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0009 a0001c0001t0001 a0001c0001t0004 a0001c0007t0009	a0001c0001t0001g0146 a0001c0001t0001g0195 a0001c0001t0004g0152 others(2): Show a0001c0001t0001g0146 a0001c0001t0001g0195 a0001c0001t0004g0152 a0001c0007t0009g0006 a0001c0007t0009g0007	5	244	0.0205	-24	c.135 others(43): Show c.135+12304_135+12327delTGTGTGTGTGTGTGTGTGTATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02896.hp1 HG03195.hp1 others(1): Show HG01192.hp1 HG02896.hp1 HG03195.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 others(1): Show a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0002t0006	a0001c0001t0013g0078 a0001c0001t0015g0061 a0001c0001t0017g0012 others(1): Show a0001c0001t0013g0078 a0001c0001t0015g0061 a0001c0001t0017g0012 a0001c0002t0006g0021	4	92	0.0435	-24	c.143 others(45): Show c.1438-58846_1438-58823delCACACACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37188431	CACACACA others(17): Show CACACACACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG02109.hp1 others(12): Show HG00741.hp1 HG01192.hp1 HG02109.hp1 HG02486.hp2 HG02630.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0090 a0001c0001t0003g0065 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0090 a0001c0001t0003g0065 a0001c0001t0004g0063 a0001c0001t0005g0006 a0001c0002t0002g0033 a0001c0002t0003g0013 a0001c0002t0003g0077 a0001c0002t0004g0053 a0001c0002t0005g0031 a0001c0002t0006g0014 a0001c0002t0006g0021 a0001c0002t0007g0018 a0001c0002t0009g0069 a0001c0003t0002g0076	15	92	0.1630	-24	c.108 others(45): Show c.1086+22931_1086+22954delTTGCGTGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37391006	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	92	0.0109	-24	c.-73 others(43): Show c.-73-48267_-73-48244delAAGGAAGGAAGGAAGGAAGGAAGG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG02148.hp1 others(1): Show HG00639.hp1 HG01981.hp2 HG02148.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0007	a0001c0001t0001g0148 a0001c0001t0002g0193 a0001c0001t0003g0173 others(1): Show a0001c0001t0001g0148 a0001c0001t0002g0193 a0001c0001t0003g0173 a0001c0002t0007g0170	4	342	0.0117	-24	c.-11 others(35): Show c.-1162_-1139delTCTCTCTCTCTCTCTCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107666995	CCCTTCTG others(17): Show CCCTTCTGCGTTTGTATTATCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	342	0.0029	-24	c.17 others(35): Show c.1799_*1822delCCTTCTGCGTTTGTATTATCCTTT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		217		chr11	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG02559.hp2 others(5): Show HG01928.hp1 HG01943.hp1 HG02559.hp2 NA18960.hp1 NA18962.hp1 NA18980.hp2 NA19058.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0026 a0001c0001t0019 a0001c0001t0026	a0001c0001t0019g0031 a0001c0001t0019g0043 a0001c0001t0026g0044 others(1): Show a0001c0001t0019g0031 a0001c0001t0019g0043 a0001c0001t0026g0044 a0001c0001t0026g0111	8	412	0.0194	-24	c.14 others(33): Show c.140_*163delGTGTGTGTGTGTGTGTGTGTGTGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4	140		chr19	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp2 HG02698.hp1 others(2): Show HG02135.hp1 HG02523.hp2 HG02698.hp1 HG06807.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0001g0218 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0026	5	320	0.0156	-24	c.-8- others(41): Show c.-8-23587_-8-23564delTTTTTTTTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110167653	TTATGTAT others(17): Show TTATGTATGTATGTATGTATGTATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 HG01884.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0070 a0001c0001t0001 a0001c0001t0070	a0001c0001t0001g0251 a0001c0001t0070g0218 a0001c0001t0001g0251 a0001c0001t0070g0218	2	338	0.0059	-24	c.89+ others(41): Show c.89+30570_89+30593delCATACATACATACATACATACATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	398	0.0025	-24	c.617 others(41): Show c.617+6433_617+6456delATATATATATATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31794418	CACCACAC others(17): Show CACCACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0171 a0001c0001t0016g0171	1	270	0.0037	-24	c.10 others(37): Show c.10895_*10918delACCACACACACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4095		chr11	TogoVar

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