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
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0294 a0001c0003t0001g0294	1	366	0.0027	17	c.299 others(32): Show c.299-733_299-732insATATATATATATATATT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(10): Show CCCCTCCCCCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	312	0.0032	17	c.451 others(36): Show c.4516-1538_4516-1537insAGAGGGAGGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20821748	C C	CCTATTAT others(10): Show CCTATTATGTATACTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG02647.hp1 others(4): Show HG00639.hp2 HG01099.hp1 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0209 a0001c0001t0002g0082 a0001c0001t0002g0083 others(4): Show a0001c0001t0001g0209 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091	7	312	0.0224	17	c.436 others(36): Show c.4368+3335_4368+3351dupAGAAGTATACATAATAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	33/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20857162	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	312	0.0032	17	c.333 others(34): Show c.3339+224_3339+240dupTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	25/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 NA19240.hp2 HG02258.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037	3	312	0.0096	17	c.300 others(36): Show c.3007-1063_3007-1047dupTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	312	0.0032	17	c.-66 others(34): Show c.-66-4724_-66-4708dupTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007531	A A	AAAAAAAA others(10): Show AAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19065.hp2 NA19089.hp2 NA19005.hp1 NA19065.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0011g0278 a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0011g0278	3	312	0.0096	17	c.-66 others(34): Show c.-66-4724_-66-4723insGTTTTGTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03098.hp1 HG03927.hp2 others(8): Show HG01981.hp2 HG03098.hp1 HG03927.hp2 NA18942.hp1 NA18943.hp2 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA19010.hp1 NA19012.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0009t0002	a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0002g0069 others(8): Show a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0002g0069 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0009t0002g0092	11	312	0.0353	17	c.-19 others(38): Show c.-195-17398_-195-17382dupTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19004.hp1 NA19074.hp1 others(2): Show HG02015.hp1 NA19004.hp1 NA19074.hp1 NA19078.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0219 a0001c0001t0004g0222 others(2): Show a0001c0001t0004g0025 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0236	5	312	0.0160	17	c.-19 others(36): Show c.-196+6084_-196+6100dupTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02647.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0003g0241 a0001c0001t0002g0047 a0001c0001t0003g0241	2	312	0.0064	17	c.-27 others(38): Show c.-271-28540_-271-28524dupTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3247003	A A	AGGGAGAG others(10): Show AGGGAGAGAGCGAGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG02723.hp2 others(12): Show HG00621.hp1 HG00738.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 NA18747.hp2 NA18947.hp2 NA18950.hp2 NA18963.hp2 NA18995.hp2 NA19004.hp1 NA19012.hp1 NA19064.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0208 others(12): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0208 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244	15	250	0.0600	17	c.416 others(36): Show c.416+10295_416+10296insCTCCCTCGCTCTCTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336841	A A	AGGAAGGG others(10): Show AGGAAGGGAAAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG02280.hp2 others(4): Show HG00323.hp1 HG01074.hp1 HG02280.hp2 HG02572.hp1 HG03942.hp1 NA18983.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0133 a0001c0001t0002g0044 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0133 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0220 a0001c0001t0008g0076 a0001c0002t0002g0124	7	250	0.0280	17	c.259 others(34): Show c.259+1159_259+1175dupCTTCCCTTTTCCCTTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3341095	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03704.hp2 HG01192.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0079 a0001c0001t0001g0080	2	250	0.0080	17	c.127 others(34): Show c.127-2963_127-2947dupTTTTTTTTTTTTTTTTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	12986673	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG03195.hp2 others(1): Show HG02055.hp1 HG02559.hp2 HG03195.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0030 a0002c0002t0005 a0002c0002t0006 a0002c0002t0030	a0002c0002t0005g0099 a0002c0002t0006g0018 a0002c0002t0030g0077 a0002c0002t0005g0099 a0002c0002t0006g0018 a0002c0002t0030g0077	4	400	0.0100	17	c.61 others(28): Show c.6128_*6144dupTTTTTTTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4938		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13013311	T T	TTAGTGAA others(10): Show TTAGTGAAGATGTGTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0175 a0001c0001t0024g0175	1	400	0.0025	17	c.491 others(30): Show c.491-53_491-37dupCCCACACATCTTCACTA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	5/23			chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0006 a0002c0008t0012 a0002c0002t0006 a0002c0008t0012	a0002c0002t0006g0009 a0002c0002t0006g0078 a0002c0008t0012g0034 a0002c0002t0006g0009 a0002c0002t0006g0078 a0002c0008t0012g0034	4	400	0.0100	17	c.-46 others(28): Show c.-4604_-4603insAGGAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109138834	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(5): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01346.hp1 HG02683.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0002t0015 a0002c0003t0023 a0003c0004t0004	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0014g0203 others(5): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0014g0203 a0001c0002t0001g0195 a0001c0002t0015g0218 a0002c0003t0023g0213 a0003c0004t0004g0202 a0003c0004t0004g0207	8	230	0.0348	17	c.154 others(36): Show c.154-23059_154-23043dupAAAAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86924407	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	196	0.0051	17	c.139 others(36): Show c.1399+1120_1399+1121insGTGTGTGTGTGTGTGTG	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	10/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	87011221	T T	TCGCGCCA others(10): Show TCGCGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(104): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01993.hp1 HG02040.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0003c0005 a0004c0006 a0005c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0004t0003 a0001c0008t0001 a0002c0002t0001 a0003c0005t0001 a0003c0005t0015 a0004c0006t0001 a0005c0011t0001 a0008c0010t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0075 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0151 a0001c0001t0003g0178 a0001c0001t0005g0138 a0001c0001t0006g0034 a0001c0001t0006g0064 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0009g0063 a0001c0001t0012g0104 a0001c0001t0016g0024 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0004g0006 a0001c0003t0004g0087 a0001c0003t0004g0090 a0001c0003t0004g0094 a0001c0003t0004g0137 a0001c0003t0007g0154 a0001c0003t0007g0182 a0001c0003t0011g0100 a0001c0004t0003g0025 a0001c0004t0003g0026 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0008t0001g0043 a0002c0002t0001g0015 a0002c0002t0001g0023 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0083 a0003c0005t0001g0136 a0003c0005t0015g0085 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0196 a0005c0011t0001g0177 a0008c0010t0004g0176	107	196	0.5459	17	c.190 others(36): Show c.190-46198_190-46197insTGGAGTGCAGTGGCGCG	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957338	A A	AAAGAGAG others(10): Show AAAGAGAGAAAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	276	0.0036	17	c.61 others(28): Show c.6144_*6145insCTCTCTCTTTCTCTCTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1234		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18993.hp1 NA18939.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0314 a0001c0001t0001g0319	2	352	0.0057	17	c.713 others(34): Show c.713+1550_713+1566dupAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02738.hp2 NA18952.hp2 HG01975.hp1 HG02738.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0082 a0001c0001t0003g0086 a0001c0001t0005g0055 a0001c0001t0001g0082 a0001c0001t0003g0086 a0001c0001t0005g0055	3	352	0.0085	17	c.230 others(34): Show c.230-3997_230-3981dupTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23786802	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02056.hp1 HG03669.hp2 others(1): Show HG01993.hp2 HG02056.hp1 HG03669.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0303 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0315	4	352	0.0114	17	c.-15 others(36): Show c.-15-24554_-15-24553insGTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCA others(10): Show TCCAGTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	342	0.0029	17	c.238 others(36): Show c.238+10602_238+10603insTGTGTGTGTGTGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(10): Show TCCAGTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG02148.hp1 others(10): Show HG00323.hp2 HG00741.hp2 HG02148.hp1 HG02622.hp2 HG02970.hp2 HG03130.hp2 HG03239.hp2 HG04204.hp1 NA18942.hp1 NA18953.hp2 NA18964.hp2 NA19081.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0058 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0292 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0308	13	342	0.0380	17	c.238 others(36): Show c.238+10602_238+10603insTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139168580	A A	AGGGTCCT others(10): Show AGGGTCCTGACACTGACT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	342	0.0029	17	c.-25 others(36): Show c.-252+8370_-252+8386dupAGTCAGTGTCAGGACCC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130102876	G G	GAAGAAAG others(10): Show GAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0144 a0001c0001t0031g0144	1	274	0.0037	17	c.-21 others(36): Show c.-210+7448_-210+7449insTTCTTTCTTTCTTTCTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF4_chrX_130058955_130115497	130110557	C C	CTCCTCCC others(10): Show CTCCTCCCCGCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02280.hp2 HG02572.hp1 HG00323.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0028 a0001c0001t0003 a0001c0001t0018 a0001c0001t0028	a0001c0001t0003g0164 a0001c0001t0018g0082 a0001c0001t0028g0183 a0001c0001t0003g0164 a0001c0001t0018g0082 a0001c0001t0028g0183	3	274	0.0110	17	c.-45 others(26): Show c.-459_-443dupAGGGCGGGCGGGGAGGA	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding		61		chrX	TogoVar
ELFN1_chr7_1665277_1752946	1728903	T T	TCATCATC others(10): Show TCATCATCTCATGATGTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19087.hp1 NA18960.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0204 a0001c0001t0001g0216	2	302	0.0066	17	c.-29 others(38): Show c.-293-15385_-293-15369dupTCCATCATCTCATGATG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELK3_chr12_96189375_96274824	96228442	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01993.hp1 HG01070.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0015 a0001c0001t0009g0016	2	354	0.0057	17	c.207 others(34): Show c.207+4671_207+4672insAAAAAAAAAAAAAAGAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	314	0.0032	17	c.482 others(32): Show c.482-515_482-514insAAAAAAAAAAAAATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	314	0.0032	17	c.482 others(32): Show c.482-515_482-514insAAAAAAAAAAAAAAATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02135.hp2 HG03471.hp1 HG01934.hp2 HG02135.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0130 a0002c0002t0006g0055 a0002c0002t0006g0122 a0002c0002t0001g0130 a0002c0002t0006g0055 a0002c0002t0006g0122	3	314	0.0096	17	c.482 others(32): Show c.482-515_482-514insAAAAAAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL3_chr15_43767620_43781966	43771626	C C	CTCTGTAA others(10): Show CTCTGTAATCTACACTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	372	0.0027	17	c.14 others(28): Show c.1473_*1489dupACAGTGTAGATTACAGA	ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding		993		chr15	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	244	0.0041	17	c.870 others(34): Show c.870-3209_870-3193dupTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462367	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	244	0.0041	17	c.470 others(32): Show c.470-516_470-515insGCCCACACACACACACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG01934.hp1 others(3): Show HG01243.hp1 HG01358.hp2 HG01934.hp1 HG02027.hp2 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0006t0004	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0004g0046 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0004g0046 a0001c0002t0001g0010 a0001c0002t0001g0081 a0001c0006t0004g0058	6	92	0.0652	17	c.143 others(36): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37092366	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG03579.hp2 HG01243.hp2 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002	a0001c0002t0003g0038 a0001c0003t0002g0089 a0001c0005t0002g0042 a0001c0002t0003g0038 a0001c0003t0002g0089 a0001c0005t0002g0042	3	92	0.0326	17	c.130 others(36): Show c.1300+4236_1300+4252dupAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37255789	T T	TGACATAT others(10): Show TGACATATCAATGGCTGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01106.hp2 others(49): Show HG00735.hp1 HG00741.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01934.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18970.hp1 NA19000.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0005t0007 a0001c0006t0004 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0068 others(49): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0003g0044 a0001c0001t0004g0007 a0001c0001t0005g0006 a0001c0001t0005g0075 a0001c0001t0006g0004 a0001c0001t0006g0008 a0001c0001t0015g0061 a0001c0001t0016g0060 a0001c0001t0017g0012 a0001c0002t0001g0010 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0081 a0001c0002t0002g0033 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0087 a0001c0002t0003g0013 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0051 a0001c0002t0003g0077 a0001c0002t0004g0023 a0001c0002t0004g0047 a0001c0002t0004g0053 a0001c0002t0005g0031 a0001c0002t0005g0056 a0001c0002t0006g0014 a0001c0002t0006g0021 a0001c0002t0007g0001 a0001c0002t0007g0018 a0001c0002t0007g0064 a0001c0002t0009g0069 a0001c0002t0011g0039 a0001c0003t0002g0091 a0001c0004t0002g0003 a0001c0004t0002g0086 a0001c0005t0002g0042 a0001c0005t0007g0016 a0001c0006t0004g0058 a0001c0007t0001g0015	52	92	0.5652	17	c.413 others(34): Show c.413+3391_413+3392insCCAGCCATTGATATGTC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(10): Show GGGCGGGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG02071.hp1 others(1): Show HG00642.hp2 HG01167.hp2 HG02071.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0003g0002 a0001c0001t0003g0016 others(1): Show a0001c0001t0001g0077 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0120	4	312	0.0128	17	c.-47 others(28): Show c.-4772_-4771insACACACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(10): Show GGGGGCGGGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02055.hp1 HG01978.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0121 a0001c0002t0006g0142 a0001c0001t0003g0121 a0001c0002t0006g0142	2	312	0.0064	17	c.-47 others(28): Show c.-4772_-4771insACACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(10): Show GGGGGGGGGCGGGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	312	0.0032	17	c.-47 others(28): Show c.-4772_-4771insACACACCCGCCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGT others(10): Show GGGGGGGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	312	0.0032	17	c.-47 others(28): Show c.-4772_-4771insACACACACACACCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD3_chr2_85349769_85396748	85364825	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0059 a0001c0001t0002g0062	2	386	0.0052	17	c.199 others(34): Show c.199+1660_199+1661insATATATATTTTTTTTTT	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85364826	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	386	0.0026	17	c.199 others(34): Show c.199+1660_199+1661insATATATATATATATATA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13			chr2	TogoVar
ELOA_chr1_23738471_23767059	23758266	T T	TTTTTATT others(10): Show TTTTTATTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	400	0.0025	17	c.225 others(36): Show c.2257+1145_2257+1146insATTTTTTTTTTTATTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOB_chr16_2766414_2782280	2781867	C C	CCTCCTGC others(10): Show CCTCCTGCTCTCTGAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG02970.hp2 others(1): Show HG02572.hp2 HG02965.hp2 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0038 a0001c0001t0004g0009 a0001c0001t0004g0038	4	438	0.0091	17	c.-46 others(28): Show c.-4629_-4628insTGCTCAGAGAGCAGGAG	ELOB	ENSG00000103363.16	transcript	ENST00000409906.9	protein_coding		4588		chr16	TogoVar
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	380	0.0026	17	c.54 others(28): Show c.5476_*5477insTATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02280.hp1 others(4): Show HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02622.hp1 HG02970.hp1 NA18522.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0001 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0051 a0001c0001t0006g0003 a0001c0001t0006g0017 others(2): Show a0001c0001t0001g0051 a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0006g0275 a0001c0001t0017g0276	7	380	0.0184	17	c.54 others(28): Show c.5474_*5475insTATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11029223	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0203 a0002c0004t0016g0203	1	380	0.0026	17	c.3+1 others(32): Show c.3+14988_3+15004dupTTTTTTTTTTTTTTTTT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar

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