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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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
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02523.hp2 others(14): Show HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0006t0001 a0001c0006t0006	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0024 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0200 a0001c0001t0002g0081 a0001c0001t0003g0174 a0001c0001t0004g0105 a0001c0001t0005g0083 a0001c0001t0008g0035 a0001c0006t0001g0018 a0001c0006t0001g0030 a0001c0006t0006g0106	17	221	0.0769	-26	c.175 others(47): Show c.1751+20604_1751+20629delCACACACACACACACACACACACA CA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	221	0.0045	-26	c.607 others(43): Show c.607-1178_607-1153delTTTTTTTTTTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFNA1_chr1_155122876_155139899	155130484	GGGGGAGA others(19): Show GGGGGAGAGGAGGAGAGAGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	350	0.0029	-26	c.93- others(39): Show c.93-845_93-820delAGGAGAGAGGGGAGAGAGGGGAGAGG	EFNA1	ENSG00000169242.12	transcript	ENST00000368407.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA5_chr5_107371894_107675937	107463802	ATCAAATG others(19): Show ATCAAATGCAGTATGCACTTTGGTTCC	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0123 a0001c0001t0016g0123	1	190	0.0053	-26	c.126 others(45): Show c.126-36319_126-36294delGGAACCAAAGTGCATACTGCATTTGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482806	CTCTCTCT others(19): Show CTCTCTCTGTCTCTCTCTCTGTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	190	0.0053	-26	c.126 others(45): Show c.126-55323_126-55298delCAGAGACAGAGAGAGAGACAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107660261	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0129 a0001c0001t0037g0129	1	190	0.0053	-26	c.125 others(45): Show c.125+10202_125+10227delATATATATATATATATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	131996358	AACATAAC others(19): Show AACATAACATTTCTAGCAAATAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	412	0.0024	-26	c.206 others(41): Show c.2066-46_2066-21delCATAACATTTCTAGCAAATAATGGGA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EGFL6_chrX_13564601_13638575	13577321	TATATATA others(19): Show TATATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG02976.hp2 others(4): Show HG02451.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03516.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0003t0005	a0001c0001t0001g0227 a0001c0001t0003g0043 a0001c0001t0005g0044 others(4): Show a0001c0001t0001g0227 a0001c0001t0003g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0002c0003t0005g0042 a0002c0003t0005g0046 a0002c0003t0005g0047	7	302	0.0232	-26	c.74+ others(41): Show c.74+7388_74+7413delTATATATATATATATATATACATACA	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFR_chr7_55014017_55216628	55171415	GTGGAGGG others(19): Show GTGGAGGGAAAGTTGGACACACAGTGC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0064 a0002c0009t0002g0064	1	250	0.0040	-26	c.191 others(43): Show c.1919+206_1919+231delAGGGAAAGTTGGACACACAGTGCTGG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGLN1_chr1_231358756_231427287	231359053	ATTATATA others(19): Show ATTATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0113 a0002c0002t0005g0113	1	338	0.0030	-26	c.73 others(37): Show c.7332_*7357delATATATATATATATATATATATATAA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4702		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231359054	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(80): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG03209.hp1 HG03492.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0020	a0001c0001t0001g0004 a0001c0001t0001g0124 a0001c0001t0001g0160 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0124 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0002g0214 a0001c0001t0002g0273 a0001c0001t0006g0302 a0001c0001t0010g0301 a0001c0001t0014g0159 a0001c0010t0001g0321 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0046 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0020g0028	83	338	0.2456	-26	c.73 others(37): Show c.7331_*7356delTATATATATATATATATATATATATA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4701		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231359085	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0041 a0002c0002t0007g0041	1	338	0.0030	-26	c.73 others(37): Show c.7300_*7325delTTATATATATATATATATATATATAT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4670		chr1	TogoVar
EHBP1_chr2_62700713_63051487	62752756	TCTTTGTT others(19): Show TCTTTGTTTAAAGTGTGTTTTATCACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp2 others(13): Show HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG02071.hp1 HG02155.hp1 HG02602.hp1 HG02602.hp2 HG03704.hp2 HG03710.hp2 NA18612.hp1 NA18951.hp2 NA18962.hp2 NA19005.hp2 NA19009.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 a0001c0001t0001 a0001c0010t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0127 a0001c0001t0001g0138 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0010t0001g0155 a0002c0002t0001g0125	16	198	0.0808	-26	c.162 others(43): Show c.162+5329_162+5354delCACTTTGTTTAAAGTGTGTTTTATCA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62820737	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	198	0.0051	-26	c.313 others(43): Show c.313-5331_313-5306delATATATATATATATATATATATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF1_chr17_41683885_41697668	41686759	TACATATA others(19): Show TACATATATACACAAATACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01515.hp2 HG02109.hp2 others(5): Show HG01358.hp2 HG01515.hp2 HG02109.hp2 HG02602.hp1 HG02683.hp1 HG03654.hp1 HG03942.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	330	0.0242	-26	c.-22 others(37): Show c.-2279_-2254delACATATATACACAAATACACACACAC	EIF1	ENSG00000173812.11	transcript	ENST00000469257.2	protein_coding		2125		chr17	TogoVar
EIF2AK2_chr2_37094210_37161980	37161226	AAAAAAAA others(19): Show AAAAAAAAAAAAGAAAGAAAGAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02886.hp2 others(1): Show HG02109.hp1 HG02630.hp2 HG02886.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0025 a0001c0001t0055	a0001c0001t0001g0080 a0001c0001t0009g0046 a0001c0001t0025g0082 others(1): Show a0001c0001t0001g0080 a0001c0001t0009g0046 a0001c0001t0025g0082 a0001c0001t0055g0081	4	326	0.0123	-26	c.-45 others(37): Show c.-4528_-4503delCTTTCTCTTTCTTTCTTTTTTTTTTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4247		chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	40040136	TTTCGCTG others(19): Show TTTCGCTGAGTGCCTCTCAGTCTGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	368	0.0027	-26	c.50 others(37): Show c.5053_*5078delTTCGCTGAGTGCCTCTCAGTCTGTGC	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		4546		chr15	TogoVar
EIF2B3_chr1_44845522_44991595	44972264	CACATATA others(19): Show CACATATACACACACAAACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02015.hp2 others(18): Show HG01167.hp2 HG01884.hp2 HG02015.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0182 a0001c0002t0001g0230 a0001c0002t0001g0232 others(18): Show a0001c0002t0001g0182 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0005g0231	21	322	0.0652	-26	c.294 others(43): Show c.294+6025_294+6050delATGTGTGTGTTTGTGTGTGTATATGT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2S2_chr20_34083309_34117243	34089221	TCAAGGTC others(19): Show TCAAGGTCCCACCACACTCGCGTGGGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(175): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19043.hp1 NA19055.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0143 a0001c0001t0008g0138 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0131 a0001c0002t0001g0136 a0001c0002t0001g0148 a0001c0005t0001g0100 a0001c0006t0001g0128	178	362	0.4917	-26	c.48 others(35): Show c.483_*508delTCCCACGCGAGTGTGGTGGGACCTTG	EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding	9/9	483		chr20	TogoVar
EIF3H_chr8_116637130_116760823	116642522	TATCAATG others(19): Show TATCAATGATTAGAAAGTTAATGTCAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0258 a0001c0001t0015g0315 a0001c0001t0015g0258 a0001c0001t0015g0315	2	336	0.0060	-26	c.24 others(37): Show c.2458_*2483delTTGACATTAACTTTCTAATCATTGAT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	8/8	2458		chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02074.hp1 NA18977.hp2 others(1): Show HG02056.hp1 HG02074.hp1 NA18977.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0014 a0001c0002t0001g0002 a0001c0004t0001g0005 a0001c0001t0001g0014 a0001c0002t0001g0002 a0001c0004t0001g0005	4	436	0.0092	-26	c.-10 others(36): Show c.-1004_-979delTATATATATATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571884	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG00741.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0012 a0001c0004t0003 a0001c0004t0012	a0001c0004t0003g0031 a0001c0004t0012g0005 a0001c0004t0003g0031 a0001c0004t0012g0005	2	436	0.0046	-26	c.-95 others(35): Show c.-957_-932delATATATATATATATATATATATATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		940		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571886	TATATATA others(19): Show TATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01433.hp2 HG00639.hp1 HG01123.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	3	436	0.0069	-26	c.-95 others(35): Show c.-955_-930delATATATATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		938		chr17	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450757	TACATATA others(19): Show TACATATATACATACATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	366	0.0027	-26	c.151 others(43): Show c.1513-423_1513-398delGTGTGTATATATGTATGTATATATGT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20821569	TCTATTAT others(19): Show TCTATTATGTATACATCACCATCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	312	0.0032	-26	c.436 others(45): Show c.4368+3505_4368+3530delGGAAGATGGTGATGTATACATAATAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	33/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	ATTTTTTT others(19): Show ATTTTTTTTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	312	0.0032	-26	c.824 others(43): Show c.824-1663_824-1638delACACACACACACACACACAAAAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(65): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02896.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp2 NA19057.hp2 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0005g0157 a0001c0001t0007g0007	68	374	0.1818	-26	c.60- others(39): Show c.60-796_60-771delTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3269344	GTCATCGC others(19): Show GTCATCGCACTCAGTCATCGCACTCAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(82): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01884.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18747.hp1 NA18944.hp1 NA18950.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18999.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0041 others(82): Show a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0220 a0001c0001t0003g0150 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0009g0248 a0001c0005t0001g0104	85	250	0.3400	-26	c.260 others(45): Show c.260-11915_260-11890delTTGAGTGCGATGACTGAGTGCGATGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3277194	ACACCTGT others(19): Show ACACCTGTCTCCACCCACACGGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0002g0010 a0001c0005t0001g0104	2	250	0.0080	-26	c.260 others(45): Show c.260-19765_260-19740delCGGGGCCGTGTGGGTGGAGACAGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3361360	AAGGAAAC others(19): Show AAGGAAACAGAGCCATCTCTGGCTTCC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	-26	c.43- others(41): Show c.43-6753_43-6728delGGAAGCCAGAGATGGCTCTGTTTCCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(100): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19081.hp2 NA19084.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0022 a0001c0002t0002 a0001c0004t0001 a0004c0008t0014 a0005c0006t0001	a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0074 others(100): Show a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0350 a0001c0001t0002g0033 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0004g0349 a0001c0001t0005g0227 a0001c0001t0006g0351 a0001c0001t0008g0256 a0001c0001t0008g0257 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0012g0293 a0001c0001t0012g0297 a0001c0001t0019g0251 a0001c0001t0022g0072 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0004t0001g0346 a0004c0008t0014g0042 a0005c0006t0001g0279	103	352	0.2926	-26	c.-15 others(45): Show c.-15-17756_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139135235	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02809.hp1 others(4): Show HG02145.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(4): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0002g0226	7	342	0.0205	-26	c.72+ others(41): Show c.72+2369_72+2394delCACACACACACACACACACACACATA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1744242	CGTCCCCT others(19): Show CGTCCCCTGACCGCTGTCTTCTCTCTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(97): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0001c0018 a0004c0009 a0008c0013 a0012c0019 a0013c0017 a0014c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0033 a0001c0001t0047 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0002t0007 a0001c0014t0001 a0001c0018t0001 a0004c0009t0001 a0008c0013t0020 a0012c0019t0001 a0013c0017t0001 a0014c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0088 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0186 a0001c0001t0013g0087 a0001c0001t0013g0199 a0001c0001t0013g0231 a0001c0001t0013g0274 a0001c0001t0017g0080 a0001c0001t0017g0099 a0001c0001t0017g0101 a0001c0001t0017g0197 a0001c0001t0020g0009 a0001c0001t0020g0132 a0001c0001t0021g0082 a0001c0001t0021g0263 a0001c0001t0021g0276 a0001c0001t0022g0073 a0001c0001t0022g0253 a0001c0001t0022g0264 a0001c0001t0033g0248 a0001c0001t0033g0285 a0001c0001t0047g0051 a0001c0001t0056g0195 a0001c0001t0059g0083 a0001c0001t0060g0246 a0001c0002t0007g0050 a0001c0014t0001g0001 a0001c0018t0001g0065 a0004c0009t0001g0109 a0004c0009t0001g0250 a0008c0013t0020g0091 a0012c0019t0001g0256 a0013c0017t0001g0217 a0014c0022t0001g0025	100	302	0.3311	-26	c.-29 others(40): Show c.-293-32_-293-7delCCCTGACCGCTGTCTTCTCTCTTGTC	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95927524	TACACACA others(19): Show TACACACACGTGTGTATATAGACATAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	314	0.0032	-26	c.196 others(43): Show c.196-8005_196-7980delGTATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(19): Show GCGCACATACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0115 a0001c0001t0017g0194 a0001c0001t0011g0115 a0001c0001t0017g0194	2	244	0.0082	-26	c.135 others(45): Show c.135+12304_135+12329delTGTGTGTGTGTGTGTGTGTATGTGCG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(19): Show GCACATACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02809.hp2 HG02970.hp2 others(3): Show HG01081.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0187	6	244	0.0246	-26	c.135 others(45): Show c.135+12302_135+12327delTGTGTGTGTGTGTGTGTGTGTATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02886.hp1 others(4): Show HG02109.hp1 HG02615.hp2 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0002t0009	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0002g0030 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0002g0030 a0001c0001t0008g0059 a0001c0001t0008g0092 a0001c0001t0016g0060 a0001c0002t0009g0069	7	92	0.0761	-26	c.143 others(47): Show c.1438-58848_1438-58823delCACACACACACACACACACACACA CA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37188429	CACACACA others(19): Show CACACACACACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp1 HG02486.hp1 others(1): Show HG01192.hp2 HG01934.hp1 HG02486.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0006t0004	a0001c0001t0004g0057 a0001c0001t0010g0084 a0001c0001t0012g0066 others(1): Show a0001c0001t0004g0057 a0001c0001t0010g0084 a0001c0001t0012g0066 a0001c0006t0004g0058	4	92	0.0435	-26	c.108 others(47): Show c.1086+22931_1086+22956delTTGCGTGTGTGTGTGTGTGTGTGT GT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG02145.hp1 others(4): Show HG01255.hp2 HG01256.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 NA18961.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009	a0001c0001t0002g0191 a0001c0001t0003g0149 a0001c0002t0002g0274 others(4): Show a0001c0001t0002g0191 a0001c0001t0003g0149 a0001c0002t0002g0274 a0001c0002t0004g0141 a0001c0002t0004g0273 a0001c0002t0005g0169 a0001c0002t0009g0317	7	342	0.0205	-26	c.-11 others(37): Show c.-1162_-1137delTCTCTCTCTCTCTCTCTCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02809.hp2 others(1): Show HG02145.hp1 HG02622.hp2 HG02809.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0021 a0003c0004t0004g0062 a0003c0004t0004g0021 a0003c0004t0004g0062	4	400	0.0100	-26	c.56 others(37): Show c.5634_*5659delTTTTTTTTTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0072 a0001c0001t0042g0072	1	412	0.0024	-26	c.13 others(35): Show c.138_*163delGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4	138		chr19	TogoVar
ELOVL1_chr1_43358401_43373011	43359722	CAGGAACA others(19): Show CAGGAACATCAGAAAGCCTGGGCTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-26	c.41 others(37): Show c.4168_*4193delCAAAGCCCAGGCTTTCTGATGTTCCT	ELOVL1	ENSG00000066322.15	transcript	ENST00000372458.8	protein_coding		3678		chr1	TogoVar
ELOVL5_chr6_53262404_53353950	53306306	GGGGAGAG others(19): Show GGGGAGAGGGAGAGGGGAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	320	0.0031	-26	c.-8- others(43): Show c.-8-10625_-8-10600delTCTCCCCTCTCCCCTCTCCCTCTCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01256.hp2 others(14): Show HG01070.hp2 HG01081.hp1 HG01256.hp2 HG01257.hp2 HG01433.hp2 HG01884.hp1 HG02109.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0260 a0001c0001t0001g0288 a0001c0001t0002g0003 others(13): Show a0001c0001t0001g0260 a0001c0001t0001g0288 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0005g0013 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0002t0002g0016	17	320	0.0531	-26	c.-8- others(43): Show c.-8-23589_-8-23564delTTTTTTTTTTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110072582	ATGGGCCA others(19): Show ATGGGCCACCCTCCAAATGTGCCACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp2 HG02083.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18945.hp2 NA18968.hp1 NA18990.hp1 NA19077.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0028 a0001c0001t0035 a0001c0001t0041 a0001c0001t0044 a0001c0001t0069 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0002t0030	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0121 others(56): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0208 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0136 a0001c0001t0002g0172 a0001c0001t0002g0334 a0001c0001t0004g0020 a0001c0001t0004g0077 a0001c0001t0004g0209 a0001c0001t0004g0217 a0001c0001t0004g0299 a0001c0001t0004g0331 a0001c0001t0004g0336 a0001c0001t0005g0005 a0001c0001t0005g0086 a0001c0001t0005g0123 a0001c0001t0005g0162 a0001c0001t0005g0192 a0001c0001t0005g0201 a0001c0001t0005g0285 a0001c0001t0005g0325 a0001c0001t0006g0016 a0001c0001t0007g0257 a0001c0001t0008g0009 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0082 a0001c0001t0008g0219 a0001c0001t0008g0235 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0015g0037 a0001c0001t0015g0148 a0001c0001t0015g0149 a0001c0001t0021g0018 a0001c0001t0021g0069 a0001c0001t0021g0107 a0001c0001t0028g0049 a0001c0001t0028g0247 a0001c0001t0035g0034 a0001c0001t0035g0329 a0001c0001t0041g0119 a0001c0001t0044g0100 a0001c0001t0069g0228 a0001c0001t0073g0126 a0001c0001t0074g0015 a0001c0001t0075g0074 a0001c0001t0077g0056 a0001c0001t0079g0289 a0001c0001t0082g0110 a0001c0002t0030g0003	59	338	0.1746	-26	c.222 others(45): Show c.222-12854_222-12829delGTGTGGCACATTTGGAGGGTGGCCCA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60815535	CAATAAAA others(19): Show CAATAAAATTTATTTATTTTATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0042 others(182): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0002 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0003g0006 a0001c0001t0003g0038 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0086 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0201 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0037 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0081 a0001c0001t0006g0087 a0001c0001t0007g0001 a0001c0001t0007g0028 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0008g0205 a0001c0001t0011g0202 a0001c0001t0011g0203 a0001c0001t0012g0243 a0001c0001t0013g0007 a0001c0001t0014g0024 a0001c0001t0015g0020 a0001c0001t0016g0029 a0001c0001t0017g0035 a0001c0001t0018g0039 a0001c0001t0019g0041 a0001c0001t0021g0196 a0001c0001t0022g0174 a0002c0002t0001g0061 a0002c0002t0002g0109 a0003c0004t0001g0085	191	258	0.7403	-26	c.-85 others(45): Show c.-85-16331_-85-16306delTATTTATAAAATAAATAAATTTTATT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60843336	GGGGAAAG others(19): Show GGGGAAAGCCCATTTCCCAACGAACCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00738.hp1 others(29): Show HG00140.hp1 HG00280.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02683.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG03490.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017	a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 others(28): Show a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0007g0001 a0001c0001t0007g0028 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0013g0007 a0001c0001t0014g0024 a0001c0001t0015g0020 a0001c0001t0016g0029 a0001c0001t0017g0035	32	258	0.1240	-26	c.-86 others(41): Show c.-86+798_-86+823delAGGTTCGTTGGGAAATGGGCTTTCCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp2 NA18982.hp1 others(1): Show HG01891.hp2 HG03540.hp2 NA18982.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0004g0246 others(1): Show a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0004g0246 a0001c0001t0004g0261	4	398	0.0101	-26	c.617 others(43): Show c.617+6431_617+6456delATATATATATATATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31560684	ATTGTTTT others(19): Show ATTGTTTTATATATATATAAAACAACG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	270	0.0037	-26	c.381 others(45): Show c.381+20927_381+20952delGTTGTTTTATATATATATAAAACAAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(19): Show CCACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03139.hp2 HG02257.hp2 HG02486.hp2 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0001c0001t0019 a0004c0005t0009 a0001c0001t0009 a0001c0001t0019 a0004c0005t0009	a0001c0001t0009g0187 a0001c0001t0019g0095 a0004c0005t0009g0188 a0001c0001t0009g0187 a0001c0001t0019g0095 a0004c0005t0009g0188	3	270	0.0111	-26	c.10 others(39): Show c.10897_*10922delCACACACACACACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4097		chr11	TogoVar

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