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
EHMT1_chr9_137614005_137841127	137716276	G G	GGTGTCAT others(16): Show GGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	170	0.0059	23	c.86- others(36): Show c.86-347_86-346insTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716421	G G	GGTGTCAT others(16): Show GGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0148 a0001c0006t0001g0148	1	170	0.0059	23	c.86- others(36): Show c.86-200_86-178dupCATGGTGGGGGAGGAAGTTGTGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137721354	C C	CCACGCCT others(16): Show CCACGCCTCTCACCCCCTCCCACG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	170	0.0059	23	c.642 others(40): Show c.642+4173_642+4174insACGCCTCTCACCCCCTCCCACGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EID2B_chr19_39525987_39537852	39537216	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00733.hp2 others(32): Show HG00423.hp2 HG00544.hp1 HG00733.hp2 HG01123.hp2 HG01261.hp1 HG01516.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02129.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG03486.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18939.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18968.hp1 NA18972.hp1 NA18978.hp1 NA19010.hp1 NA19030.hp1 NA19066.hp1 NA19067.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0007g0000	35	418	0.0837	23	c.-44 others(34): Show c.-4415_-4414insTTTTTTTTTTTTTTTTTTTTTTT	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		4365		chr19	TogoVar
EID2_chr19_39533707_39545161	39537216	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00673.hp1 others(34): Show HG00423.hp1 HG00544.hp1 HG00673.hp1 HG00733.hp1 HG01123.hp2 HG01261.hp2 HG01516.hp2 HG01891.hp1 HG01975.hp2 HG02015.hp1 HG02129.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp2 HG02738.hp1 HG03486.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18939.hp2 NA18949.hp2 NA18950.hp2 NA18956.hp2 NA18968.hp1 NA18972.hp2 NA18978.hp2 NA19010.hp1 NA19030.hp2 NA19055.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000	37	420	0.0881	23	c.21 others(34): Show c.2152_*2153insTTTTTTTTTTTTTTTTTTTTTTT	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding		1490		chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	278	0.0036	23	c.59 others(34): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0193 a0001c0001t0021g0193	1	418	0.0024	23	c.119 others(40): Show c.119-1910_119-1909insATATATATATATATATATTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0387 a0001c0001t0006g0387	1	418	0.0024	23	c.119 others(40): Show c.119-1910_119-1909insATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	322	0.0031	23	c.295 others(38): Show c.295-753_295-752insATATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0134 a0001c0002t0001g0135	2	322	0.0062	23	c.295 others(38): Show c.295-753_295-752insAAAAATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	322	0.0031	23	c.295 others(38): Show c.295-753_295-752insAAAAAAATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01515.hp2 HG01517.hp2 others(5): Show HG00408.hp2 HG01515.hp2 HG01517.hp2 HG02071.hp1 HG03831.hp2 HG04199.hp2 NA18941.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0048 others(5): Show a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0095 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224	8	322	0.0248	23	c.295 others(42): Show c.295-10312_295-10290dupAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03239.hp2 HG03834.hp2 others(7): Show HG02056.hp2 HG03239.hp2 HG03834.hp2 NA18951.hp2 NA18954.hp2 NA18960.hp2 NA18981.hp1 NA18989.hp2 NA19074.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0081 a0001c0001t0002g0082 others(7): Show a0001c0001t0002g0005 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089	10	322	0.0311	23	c.-10 others(40): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	336	0.0030	23	c.707 others(40): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTG	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	400	0.0025	23	c.40 others(32): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	318	0.0031	23	c.580 others(40): Show c.580-1539_580-1517dupTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	372	0.0027	23	c.668 others(38): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01099.hp2 others(17): Show HG00140.hp2 HG00735.hp2 HG01099.hp2 HG01258.hp1 HG01346.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02293.hp2 HG02735.hp2 HG02886.hp1 HG03927.hp1 NA19004.hp1 NA19007.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19083.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 a0002c0004t0001g0117	20	372	0.0538	23	c.979 others(40): Show c.979+2228_979+2250dupTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	366	0.0027	23	c.299 others(38): Show c.299-733_299-732insATATATATATATATATTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19240.hp2 HG02970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0329 a0001c0003t0001g0303 a0001c0001t0001g0329 a0001c0003t0001g0303	2	366	0.0055	23	c.299 others(38): Show c.299-733_299-732insATATATATATATATATATTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19091.hp2 HG00408.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0230 a0001c0001t0023g0029 a0001c0001t0001g0230 a0001c0001t0023g0029	2	312	0.0064	23	c.-19 others(44): Show c.-195-17404_-195-17382dupTTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp2 HG01169.hp1 others(3): Show HG00544.hp1 HG01167.hp2 HG01169.hp1 HG02523.hp1 HG03710.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0006g0164 a0001c0001t0006g0193	6	312	0.0192	23	c.-27 others(44): Show c.-271-28546_-271-28524dupTTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99339006	A A	ACAAATAT others(16): Show ACAAATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0275 a0002c0001t0005g0276 a0002c0001t0005g0275 a0002c0001t0005g0276	2	342	0.0059	23	c.35+ others(38): Show c.35+1417_35+1418insCAAATATATATATATATATACAT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3287324	A A	ACTCCAGA others(16): Show ACTCCAGAAAGCTCGTTCACTGCG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	250	0.0040	23	c.260 others(42): Show c.260-29892_260-29870dupCGCAGTGAACGAGCTTTCTGGAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3287820	C C	CCATGCTC others(16): Show CCATGCTCCAGAAAGCTCATTCAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	250	0.0040	23	c.260 others(42): Show c.260-30366_260-30365insCTGAATGAGCTTTCTGGAGCATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3287843	C C	CCATGCTC others(16): Show CCATGCTCCAGAAAGCTCATTCAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	250	0.0040	23	c.260 others(42): Show c.260-30389_260-30388insCTGAATGAGCTTTCTGGAGCATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELANE_chr19_847303_861243	852730	C C	CGATCCCG others(16): Show CGATCCCGTGGGTTCCCGGTGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 HG02486.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0075 a0001c0001t0001g0091	2	403	0.0050	23	c.68- others(35): Show c.68-107_68-85dupCGGTGGGGGATCCCGTGGGTTCC	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG01361.hp2 others(2): Show HG00408.hp2 HG00741.hp1 HG01361.hp2 HG02148.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0064 a0001c0001t0001g0210 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0002t0002g0017 a0001c0002t0002g0038	5	352	0.0142	23	c.230 others(40): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830625	C C	CACACACA others(16): Show CACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	352	0.0028	23	c.-48 others(34): Show c.-4836_-4835insTGTGTGTGTGTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4386		chr9	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(16): Show TCCAGTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(12): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG01168.hp2 HG01433.hp1 HG02080.hp1 HG02165.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp2 HG03831.hp1 NA18980.hp2 NA18986.hp2 NA18992.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0101 others(12): Show a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0326 a0001c0001t0002g0102 a0001c0001t0002g0296	15	342	0.0439	23	c.238 others(42): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151019	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	342	0.0029	23	c.-25 others(44): Show c.-251-11523_-251-11522insCTTTCTTTCTTTCTTTCTTTCTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	342	0.0029	23	c.-25 others(44): Show c.-251-11536_-251-11535insCTTTCTTTCTTTCTTTCTTTCTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151039	A A	AGAAAGGA others(16): Show AGAAAGGAAAGAAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01981.hp2 HG01256.hp1 HG01258.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0199 a0001c0001t0002g0215 a0001c0001t0002g0216	3	342	0.0088	23	c.-25 others(44): Show c.-251-11543_-251-11542insCTTTCTTTCCTTTCTTTCCTTTC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130102920	A A	AAGAAAGA others(16): Show AAGAAAGAAAGAAAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	274	0.0037	23	c.-21 others(42): Show c.-210+7404_-210+7405insCTCTTCTTTCTTTCTTTCTTTCT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(16): Show CTCTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02080.hp1 HG03195.hp2 others(3): Show HG01106.hp2 HG02080.hp1 HG03195.hp2 NA19000.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0002t0003g0032 others(3): Show a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0051 a0001c0002t0003g0077	6	92	0.0652	23	c.65 others(34): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	92	0.0109	23	c.143 others(42): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(16): Show GGGCGGGGGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	312	0.0032	23	c.-47 others(34): Show c.-4772_-4771insACACACACACACACACCCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(16): Show GGGCGGGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	312	0.0032	23	c.-47 others(34): Show c.-4772_-4771insACACACACACACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(16): Show GGGGGCGGGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	312	0.0032	23	c.-47 others(34): Show c.-4772_-4771insACACACACACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD3_chr2_85349769_85396748	85364826	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0171 a0001c0006t0001g0171	1	386	0.0026	23	c.199 others(40): Show c.199+1660_199+1661insATATATATATATATATATATATA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13			chr2	TogoVar
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	380	0.0026	23	c.54 others(34): Show c.5476_*5477insTATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	380	0.0026	23	c.54 others(34): Show c.5474_*5475insTATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043471	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA20129.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0211 a0001c0001t0019g0212 a0001c0001t0006g0211 a0001c0001t0019g0212	2	380	0.0053	23	c.3+7 others(34): Show c.3+756_3+757insTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATATGA others(16): Show ATATATGATATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp1 NA19064.hp2 HG00609.hp2 HG02055.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0042 a0001c0001t0013 a0001c0001t0042	a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0042g0058 a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0042g0058	3	338	0.0089	23	c.221 others(42): Show c.221+21362_221+21363insATATATGTTATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATATGA others(16): Show ATATATGATATATATCACATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	338	0.0030	23	c.221 others(42): Show c.221+21362_221+21363insATATATGTGATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084164	G G	GTGATGAT others(16): Show GTGATGATATATATAACATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0074 a0001c0001t0075g0074	1	338	0.0030	23	c.221 others(42): Show c.221+21332_221+21333insTATATATGTTATATATATCATCA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084227	T T	TATATATA others(16): Show TATATATAACATATAACTTATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp2 others(35): Show HG00140.hp1 HG00323.hp2 HG00609.hp2 HG01361.hp2 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 HG04184.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0080 a0001c0001t0081	a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0236 others(35): Show a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0236 a0001c0001t0002g0288 a0001c0001t0004g0145 a0001c0001t0004g0271 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0006g0066 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0231 a0001c0001t0006g0278 a0001c0001t0006g0280 a0001c0001t0006g0296 a0001c0001t0006g0326 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0024g0154 a0001c0001t0024g0245 a0001c0001t0025g0256 a0001c0001t0031g0294 a0001c0001t0031g0320 a0001c0001t0039g0090 a0001c0001t0040g0230 a0001c0001t0046g0006 a0001c0001t0080g0104 a0001c0001t0081g0068	38	338	0.1124	23	c.221 others(42): Show c.221+21269_221+21270insCATATAAGTTATATGTTATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084239	A A	ATAACATA others(16): Show ATAACATATGATATATATAACATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18990.hp2 HG00642.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0089 a0001c0001t0004g0233 a0001c0001t0001g0089 a0001c0001t0004g0233	2	338	0.0059	23	c.221 others(42): Show c.221+21257_221+21258insCATGTTATATATATCATATGTTA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(16): Show CATGATATATCACATATATCATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	338	0.0030	23	c.221 others(42): Show c.221+21060_221+21082dupATATGATATATGTGATATATCAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(16): Show ACATATATCATATATGATATATCG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19004.hp1 NA18939.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0087 a0001c0001t0012g0054 a0001c0001t0012g0087	2	338	0.0059	23	c.221 others(42): Show c.221+21049_221+21071dupCGATATATCATATATGATATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar

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