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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EPB41L4B_chr9_109166974_109326059	109226695	T T	TGAAGAAT others(26): Show TGAAGAATATATATATGAAGAATATATATATGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0196 a0001c0002t0012g0196	1	318	0.0031	33	c.141 others(52): Show c.1410-9551_1410-9550insTTCATATATATATTCTTCATATATAT ATTCTTC		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25						chr9	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	312	0.0032	33	c.-8+ others(50): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp2 HG02132.hp1 others(3): Show HG00280.hp1 HG01256.hp2 HG02132.hp1 HG03017.hp2 HG03225.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0023	a0001c0001t0001g0012 a0001c0001t0001g0130 a0001c0001t0002g0157 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0130 a0001c0001t0002g0157 a0001c0001t0002g0180 a0001c0001t0002g0274 a0001c0001t0023g0165	6	312	0.0192	33	c.-8+ others(50): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03195.hp2 NA19012.hp1 HG01123.hp2 HG03195.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0002 a0001c0001t0001 a0001c0001t0005 a0001c0003t0002	a0001c0001t0001g0133 a0001c0001t0005g0252 a0001c0003t0002g0156 a0001c0001t0001g0133 a0001c0001t0005g0252 a0001c0003t0002g0156	3	312	0.0096	33	c.-8+ others(50): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC CCCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18942.hp1 HG02886.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0005g0177 a0001c0001t0001g0021 a0001c0001t0005g0177	2	312	0.0064	33	c.-8+ others(50): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACCC CCCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	312	0.0032	33	c.-8+ others(50): Show c.-8+20700_-8+20701insACACACACACACACACACACACACCCCC CCCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG02738.hp1 HG00408.hp1 HG00642.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0118 a0001c0001t0002g0244 a0001c0001t0002g0048 a0001c0001t0002g0118 a0001c0001t0002g0244	3	312	0.0096	33	c.-8+ others(50): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACA		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20						chr1	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(26): Show TTATATTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19068.hp1 NA19082.hp1 NA18950.hp2 NA19068.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0039 a0001c0001t0002g0071 a0001c0001t0002g0072	3	308	0.0097	33	c.172 others(52): Show c.1720+3236_1720+3237insATATTATATATATATATATATATATA TATATAT		EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	448	0.0022	33	c.270 others(52): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(26): Show GAGAAGGAGAAGGGGAAGAGGAAGAGGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	294	0.0034	33	c.159 others(50): Show c.159+1761_159+1762insTCTTCTTCCTCTTCCTCTTCCCCTTCTC CTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGG others(26): Show GAGAAGGGGAAGGGGAAGAGGAAGAGGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19011.hp2 NA18956.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0002g0175 a0001c0001t0001g0222 a0001c0001t0002g0175	2	294	0.0068	33	c.159 others(50): Show c.159+1761_159+1762insTCTTCTTCCTCTTCCTCTTCCCCTTCCC CTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01071.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0215 a0001c0001t0005g0216 a0001c0001t0002g0215 a0001c0001t0005g0216	2	294	0.0068	33	c.159 others(50): Show c.159+1716_159+1748dupTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAAG others(26): Show GGAAGAAGAGGAATAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0273 a0001c0002t0022g0273	1	294	0.0034	33	c.159 others(50): Show c.159+1748_159+1749insTTCTTCTTCTTCTTCTTCTTATTCCTCT TCTTC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA7_chr6_93235020_93424559	93351266	G G	GAGTTGGC others(26): Show GAGTTGGCTGATGATTCCAATGAGACCCCATCAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0194 a0001c0003t0004g0194	1	280	0.0036	33	c.132 others(52): Show c.1324+5418_1324+5450dupGTGATGGGGTCTCATTGGAATCATCA GCCAACT		EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16						chr6	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(26): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	282	0.0036	33	c.766 others(50): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPS15L1_chr19_16350247_16476970	16350982	A A	AGCTACTT others(26): Show AGCTACTTGGGAGACTGAGGCAGGAGAATCACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0168 a0001c0009t0001g0168	1	276	0.0036	33	c.47 others(44): Show c.4722_*4723insAAGTGATTCTCCTGCCTCAGTCTCCCAAGTAGC		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding					4264		chr19	TogoVar
EPSTI1_chr13_42881388_42997241	42965732	T T	TCTCCCTC others(26): Show TCTCCCTCGTCTCCCTCTCCCTCTCCCTCGTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02004.hp1 HG02572.hp2 others(3): Show HG01109.hp2 HG02004.hp1 HG02572.hp2 HG03139.hp1 HG03195.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0021 a0001c0001t0022 others(1): Show a0001c0001t0004 a0001c0001t0021 a0001c0001t0022 a0001c0002t0011	a0001c0001t0004g0176 a0001c0001t0021g0148 a0001c0001t0022g0020 others(3): Show a0001c0001t0004g0176 a0001c0001t0021g0148 a0001c0001t0022g0020 a0001c0001t0022g0021 a0001c0002t0011g0009 a0001c0002t0011g0022	6	352	0.0171	33	c.332 others(50): Show c.332-1594_332-1593insGAGACGAGGGAGAGGGAGAGGGAGACGA GGGAG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965768	T T	TCGTCTCC others(26): Show TCGTCTCCCTCTCCCTCTCCCTCATCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18906.hp2 NA18966.hp1 HG01192.hp2 NA18906.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0008g0007 a0001c0001t0012g0249 a0001c0001t0016g0293 a0001c0001t0008g0007 a0001c0001t0012g0249 a0001c0001t0016g0293	3	352	0.0085	33	c.332 others(50): Show c.332-1630_332-1629insGAGAGGGAGATGAGGGAGAGGGAGAGGG AGACG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
ERBB2_chr17_39695064_39733658	39727487	G G	GTACCCCT others(26): Show GTACCCCTGCCCTCTGAGACTGACCGCCCACAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19089.hp1 NA19089.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0005 a0011c0016t0005	a0011c0016t0005g0069 a0011c0016t0005g0069	1	318	0.0031	33	c.337 others(42): Show c.3374_3375insCCGCCCACAGTTACCCCTGCCCTCTGAGACTGA	p.Asp others(48): Show p.Asp1125_Gly1126insArgProGlnLeuProLeuProSerGluThr Asp	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	26/27	3550/4557	3375/3768	1125/1255		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	56	0.0179	33	c.83- others(50): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0006 a0001c0001t0022g0006	1	56	0.0179	33	c.82+ others(52): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018441	A A	AATATAAT others(26): Show AATATAATATATATTATATTATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	306	0.0033	33	c.534 others(50): Show c.534-2875_534-2843dupATATATATTATATTATATAATATATATT ATATA		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55583480	C C	CTCCTTCC others(26): Show CTCCTTCCTTCTCTCCCCTCCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 HG02040.hp2 others(1): Show HG01069.hp2 HG01169.hp2 HG02040.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0002g0032 a0001c0001t0005g0053	4	74	0.0541	33	c.40 others(52): Show c.40-72205_*40-72204insAGAGGGAGGGAGGGGAGGGGAGAGAA GGAAGGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55743341	A A	AATGCCAG others(26): Show AATGCCAGCATCATTTGGCATCCTGCTACAAATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01346.hp2 others(15): Show HG01109.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG02040.hp2 HG02258.hp1 HG02723.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03540.hp1 HG03710.hp2 HG03831.hp2 NA18962.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0002c0003t0003 a0003c0006t0004	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0035 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0058 a0001c0001t0003g0044 a0001c0001t0003g0070 a0001c0001t0005g0071 a0001c0001t0011g0047 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0017 a0002c0003t0003g0025 a0002c0003t0003g0056 a0003c0006t0004g0060	18	74	0.2432	33	c.256 others(52): Show c.2565-8424_2565-8423insCATTTGTAGCAGGATGCCAAATGATG CTGGCAT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERCC2_chr19_45344837_45375573	45375531	T T	TTATATTT others(26): Show TTATATTTATTTTATTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	412	0.0024	33	c.-49 others(44): Show c.-4992_-4991insTAAAATAAAATAAAATAAAATAAAATAAATATA		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding					4959		chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0334 a0002c0002t0006g0334	1	392	0.0026	33	c.788 others(48): Show c.788+585_788+586insACACACACACAACACACACACACACACACA CAC		ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
ERFL_chr19_41902704_41933449	41914655	C C	CGTCTCTG others(26): Show CGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	330	0.0030	33	c.-13 others(50): Show c.-13-1724_-13-1723insAGAGATGGTGGAAGGGGAGGGAGAGACA GAGAC		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914656	A A	ATCTCTGT others(26): Show ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	330	0.0030	33	c.-13 others(50): Show c.-13-1757_-13-1725dupCAGAGATGGTGGAAGGGGAGGGAGAGAC AGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914683	A A	ATCTCTGT others(26): Show ATCTCTGTCTCTCCCTCCCCCTCCACCATCTCTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	2	330	0.0061	33	c.-13 others(50): Show c.-13-1752_-13-1751insCAGAGATGGTGGAGGGGGAGGGAGAGAC AGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914710	A A	ATCTCTGT others(26): Show ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	330	0.0030	33	c.-13 others(50): Show c.-13-1811_-13-1779dupCAGAGATGGTGGAAGGGGAGGGAGAGAC AGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914712	C C	GTCTGTCT others(26): Show GTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	330	0.0030	33	c.-13 others(50): Show c.-13-1780_-13-1779insACAGAGACGGTGGAAGGGGAGGGAGAGA CAGAC		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914736	C C	CGTCTCTG others(26): Show CGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18940.hp2 HG04115.hp2 NA18940.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0001 a0001c0001t0001 a0000c0003t0001 a0001c0001t0001	a0000c0003t0001g0033 a0001c0001t0001g0048 a0000c0003t0001g0033 a0001c0001t0001g0048	2	330	0.0061	33	c.-13 others(50): Show c.-13-1805_-13-1804insAGAGATGGTGGAAGGGGAGGGAGAGACA GAGAC		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914737	A A	ATCTCTGT others(26): Show ATCTCTGTCTCTCCCTCCCCCTCCACCATCTCTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	330	0.0030	33	c.-13 others(50): Show c.-13-1806_-13-1805insCAGAGATGGTGGAGGGGGAGGGAGAGAC AGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914737	A A	ATCTCTGT others(26): Show ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19064.hp2 HG02683.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0267 a0001c0001t0001g0089 a0001c0001t0003g0267	2	330	0.0061	33	c.-13 others(50): Show c.-13-1806_-13-1805insCAGAGATGGTGGAAGGGGAGGGAGAGAC AGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914747	C C	CTCCCTCC others(26): Show CTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	330	0.0030	33	c.-13 others(50): Show c.-13-1816_-13-1815insTAGACAGAGACAGAGATGGTGGAAGGGG AGGGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914857	C C	CTCCACCA others(26): Show CTCCACCATCTCTGTCTCTGTCTCTCGCTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp1 HG02258.hp2 others(10): Show HG00738.hp2 HG02145.hp1 HG02258.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03453.hp1 NA18986.hp2 NA18990.hp2 NA18997.hp1 NA19030.hp2 NA19058.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0004c0007 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0011t0007 a0004c0007t0001 a0006c0012t0002	a0001c0001t0001g0043 a0001c0001t0001g0192 a0001c0001t0003g0229 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0192 a0001c0001t0003g0229 a0001c0002t0002g0015 a0001c0002t0002g0115 a0001c0002t0002g0144 a0001c0002t0002g0150 a0001c0002t0002g0190 a0001c0002t0004g0208 a0001c0011t0007g0093 a0004c0007t0001g0045 a0006c0012t0002g0126	13	330	0.0394	33	c.-13 others(50): Show c.-13-1926_-13-1925insAAGGGAGCGAGAGACAGAGACAGAGATG GTGGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908315	G G	GGGGGCGG others(26): Show GGGGGCGGAAGAGAGGGGAGGAGGTGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03831.hp1 NA18959.hp1 others(1): Show HG02895.hp2 HG03831.hp1 NA18959.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0110 a0001c0001t0001g0163 a0001c0001t0002g0159 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0163 a0001c0001t0002g0159 a0001c0001t0011g0099	4	334	0.0120	33	c.156 others(50): Show c.156-1349_156-1348insGCGGAAGAGAGGGGAGGAGGTGGGGGAG GAGGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	696400	T T	TCCTCCCC others(26): Show TCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02602.hp2 HG03041.hp2 others(7): Show HG02074.hp2 HG02602.hp2 HG03041.hp2 HG04184.hp2 NA18984.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19068.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0003c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0274 a0001c0002t0002g0334 a0003c0004t0002g0322 a0003c0004t0002g0323	10	378	0.0265	33	c.170 others(50): Show c.170-3789_170-3788insGGTGAGAGGAGCGAGCGCAGGCTGATGG GGAGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(26): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03490.hp1 HG01515.hp2 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0297 a0002c0005t0002g0284 a0001c0001t0002g0297 a0002c0005t0002g0284	2	378	0.0053	33	c.169 others(50): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAAAAAAACA AAAAA		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERMAP_chr1_42812122_42849991	42848210	G G	GAGGCTGA others(26): Show GAGGCTGAATAGCTCATTGCATAGAGATACTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	386	0.0026	33	c.49 others(44): Show c.4978_*4979insAGGCTGAATAGCTCATTGCATAGAGATACTGTA		ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding					3220		chr1	TogoVar
ERMP1_chr9_5779572_5838117	5834892	T T	TGTAACCG others(26): Show TGTAACCGTTAGTACATGCTAGTCTGTACATTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	378	0.0027	33	c.-18 others(44): Show c.-1866_-1865insGCAATGTACAGACTAGCATGTACTAACGGTTAC		ERMP1	ENSG00000099219.15	transcript	ENST00000339450.10	protein_coding					1776		chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02970.hp1 HG03139.hp1 HG00733.hp2 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0008g0117 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0008g0117	3	220	0.0136	33	c.58- others(48): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11						chr9	TogoVar
ERVK3-1_chr19_58300377_58321812	58316968	A A	ATTTCCTT others(26): Show ATTTCCTTTCCTTTCTTTTCTTTTTCTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0071 a0001c0001t0032g0071	1	424	0.0024	33	c.21 others(44): Show c.2185_*2186insTTTCCTTTCCTTTCTTTTCTTTTTCTTTTTTTT		ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding					157		chr19	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	390	0.0026	33	c.226 others(50): Show c.2262+563_2262+564insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13						chr20	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01175.hp2 others(3): Show HG00642.hp1 HG00735.hp2 HG01175.hp2 HG03654.hp1 HG03688.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0337 others(3): Show a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340	6	374	0.0160	33	c.-47 others(44): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding					4648		chr8	TogoVar
ESRRG_chr1_216498251_216728429	216524252	A A	ATATATAT others(26): Show ATATATATATATACATATATATATATATGTAAGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02965.hp2 others(2): Show HG02258.hp1 HG02723.hp2 HG02965.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0001t0028	a0001c0001t0005g0255 a0001c0001t0014g0017 a0001c0001t0014g0087 others(2): Show a0001c0001t0005g0255 a0001c0001t0014g0017 a0001c0001t0014g0087 a0001c0001t0017g0085 a0001c0001t0028g0028	5	286	0.0175	33	c.863 others(50): Show c.863-4832_863-4831insACTTACATATATATATATATGTATATAT ATATA		ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	5/6						chr1	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	334	0.0030	33	c.732 others(48): Show c.732+538_732+539insATATATATATATATATATATATATATATAT TTT		ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10						chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18972.hp2 HG03688.hp1 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0220 a0002c0002t0004g0247 a0001c0001t0002g0220 a0002c0002t0004g0247	2	336	0.0060	33	c.40- others(46): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11						chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01256.hp1 others(4): Show HG00741.hp2 HG01074.hp1 HG01256.hp1 HG01361.hp2 HG02071.hp2 HG03491.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0159 others(4): Show a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0197 a0001c0001t0002g0224 a0001c0001t0008g0165	7	336	0.0208	33	c.-54 others(42): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding					464		chr15	TogoVar
ETFA_chr15_76210353_76316469	76311952	T T	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	336	0.0030	33	c.-56 others(42): Show c.-565_-564insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding					484		chr15	TogoVar

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