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
ERBIN_chr5_65921575_66087546	66018506	T T	TTATATAA TTATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03540.hp1 HG04115.hp2 others(1): Show HG02145.hp2 HG03540.hp1 HG04115.hp2 NA20300.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0018 a0001c0001 a0013c0018	a0001c0001t0006 a0001c0001t0013 a0001c0001t0028 others(1): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0028 a0013c0018t0001	a0001c0001t0006g0156 a0001c0001t0013g0100 a0001c0001t0028g0092 others(1): Show a0001c0001t0006g0156 a0001c0001t0013g0100 a0001c0001t0028g0092 a0013c0018t0001g0049	4	306	0.0131	7	c.534 others(24): Show c.534-2810_534-2809insATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66053103	A A	AATTCCAC AATTCCAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02109.hp1 others(19): Show HG01167.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0005 a0004c0014 others(1): Show a0001c0007 a0004c0005 a0004c0014 a0004c0017	a0001c0007t0010 a0004c0005t0004 a0004c0005t0025 others(2): Show a0001c0007t0010 a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004	a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 others(19): Show a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0165 a0001c0007t0010g0275 a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011	22	306	0.0719	7	c.208 others(24): Show c.2088-303_2088-302insATTCCAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	20/25			chr5	TogoVar
ERC1_chr12_986223_1500931	994066	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG01891.hp1 others(6): Show HG01243.hp1 HG01257.hp1 HG01891.hp1 HG02145.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03669.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0058 a0001c0001t0074 a0002c0002t0053 others(6): Show a0001c0001t0058 a0001c0001t0074 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0066 a0002c0002t0070 a0002c0002t0100 a0009c0008t0041	a0001c0001t0058g0141 a0001c0001t0074g0039 a0002c0002t0053g0136 others(6): Show a0001c0001t0058g0141 a0001c0001t0074g0039 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0066g0139 a0002c0002t0070g0138 a0002c0002t0100g0134 a0009c0008t0041g0140	9	162	0.0556	7	c.-15 others(26): Show c.-157+2767_-157+2773dupAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1146308	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02109.hp2 HG03195.hp1 others(2): Show HG01993.hp2 HG02109.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0001t0067 a0002c0002t0127	a0001c0001t0001g0076 a0001c0001t0005g0041 a0001c0001t0029g0160 others(2): Show a0001c0001t0001g0076 a0001c0001t0005g0041 a0001c0001t0029g0160 a0001c0001t0067g0121 a0002c0002t0127g0155	5	162	0.0309	7	c.173 others(26): Show c.1737+4540_1737+4546dupTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1219635	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01952.hp2 HG02129.hp2 others(11): Show HG00408.hp2 HG01952.hp2 HG02129.hp2 HG02145.hp2 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG03130.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18949.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0011 a0001c0001t0057 a0001c0001t0086 others(11): Show a0001c0001t0011 a0001c0001t0057 a0001c0001t0086 a0001c0001t0087 a0001c0001t0106 a0001c0001t0108 a0001c0001t0119 a0001c0001t0120 a0002c0002t0005 a0002c0002t0098 a0002c0002t0101 a0002c0002t0102 a0002c0002t0128 a0009c0008t0041	a0001c0001t0011g0034 a0001c0001t0057g0156 a0001c0001t0086g0060 others(11): Show a0001c0001t0011g0034 a0001c0001t0057g0156 a0001c0001t0086g0060 a0001c0001t0087g0046 a0001c0001t0106g0003 a0001c0001t0108g0064 a0001c0001t0119g0061 a0001c0001t0120g0024 a0002c0002t0005g0133 a0002c0002t0098g0045 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0128g0054 a0009c0008t0041g0140	14	162	0.0864	7	c.235 others(28): Show c.2352-17127_2352-17121dupTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1225449	T T	TAAAACAC TAAAACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02622.hp2 HG02976.hp1 others(1): Show HG01517.hp1 HG02622.hp2 HG02976.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0045 a0001c0001t0130 others(1): Show a0001c0001t0008 a0001c0001t0045 a0001c0001t0130 a0002c0002t0042	a0001c0001t0008g0086 a0001c0001t0045g0066 a0001c0001t0130g0102 others(1): Show a0001c0001t0008g0086 a0001c0001t0045g0066 a0001c0001t0130g0102 a0002c0002t0042g0079	4	162	0.0247	7	c.235 others(28): Show c.2352-11319_2352-11318insAAACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1255621	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp1 HG01981.hp1 others(4): Show HG01256.hp2 HG01433.hp1 HG01981.hp1 HG01993.hp1 HG02109.hp2 HG02155.hp2 NA20805.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0009 a0001c0001 a0003c0004 a0006c0009	a0001c0001t0030 a0001c0001t0067 a0001c0001t0083 others(4): Show a0001c0001t0030 a0001c0001t0067 a0001c0001t0083 a0001c0001t0091 a0003c0004t0003 a0003c0004t0010 a0006c0009t0025	a0001c0001t0030g0109 a0001c0001t0067g0121 a0001c0001t0083g0130 others(4): Show a0001c0001t0030g0109 a0001c0001t0067g0121 a0001c0001t0083g0130 a0001c0001t0091g0028 a0003c0004t0003g0058 a0003c0004t0010g0053 a0006c0009t0025g0110	7	162	0.0432	7	c.248 others(26): Show c.2488-7390_2488-7384dupTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1303964	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00639.hp1 others(15): Show HG00323.hp2 HG00408.hp2 HG00639.hp1 HG01261.hp1 HG01952.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp2 NA18612.hp2 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 others(15): Show a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0057 a0001c0001t0106 a0001c0001t0119 a0001c0001t0120 a0001c0001t0132 a0001c0001t0138 a0002c0002t0005 a0002c0002t0017 a0002c0002t0085 a0009c0008t0041	a0001c0001t0011g0034 a0001c0001t0019g0120 a0001c0001t0020g0113 others(15): Show a0001c0001t0011g0034 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0031g0118 a0001c0001t0034g0161 a0001c0001t0057g0156 a0001c0001t0106g0003 a0001c0001t0119g0061 a0001c0001t0120g0024 a0001c0001t0132g0103 a0001c0001t0138g0095 a0002c0002t0005g0133 a0002c0002t0017g0097 a0002c0002t0085g0142 a0009c0008t0041g0140	18	162	0.1111	7	c.278 others(28): Show c.2780+13955_2780+13961dupAAAAGAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1356212	A A	AGTGTGTG AGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03130.hp2 others(3): Show HG02615.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0004 a0001c0001t0049 a0002c0002t0035 others(3): Show a0001c0001t0004 a0001c0001t0049 a0002c0002t0035 a0002c0002t0101 a0007c0012t0073 a0008c0011t0044	a0001c0001t0004g0078 a0001c0001t0049g0157 a0002c0002t0035g0143 others(3): Show a0001c0001t0004g0078 a0001c0001t0049g0157 a0002c0002t0035g0143 a0002c0002t0101g0056 a0007c0012t0073g0067 a0008c0011t0044g0068	6	162	0.0370	7	c.278 others(28): Show c.2781-15621_2781-15620insGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1386664	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp2 others(2): Show HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02647.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0138 a0002c0002t0017 others(2): Show a0001c0001t0001 a0001c0001t0138 a0002c0002t0017 a0002c0002t0037 a0002c0002t0085	a0001c0001t0001g0080 a0001c0001t0138g0095 a0002c0002t0017g0097 others(2): Show a0001c0001t0001g0080 a0001c0001t0138g0095 a0002c0002t0017g0097 a0002c0002t0037g0042 a0002c0002t0085g0142	5	162	0.0309	7	c.292 others(28): Show c.2925+14688_2925+14689insAAAAATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1408427	G G	GTTGGTGA GTTGGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00741.hp1 others(73): Show HG00408.hp1 HG00639.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0002c0007 a0004c0005 a0005c0010 a0007c0012 a0008c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 others(67): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0001t0034 a0001c0001t0040 a0001c0001t0045 a0001c0001t0049 a0001c0001t0057 a0001c0001t0074 a0001c0001t0103 a0001c0001t0119 a0001c0001t0125 a0001c0001t0133 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0001 a0002c0002t0002 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0026 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0042 a0002c0002t0047 a0002c0002t0048 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0060 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0070 a0002c0002t0072 a0002c0002t0075 a0002c0002t0076 a0002c0002t0080 a0002c0002t0081 a0002c0002t0084 a0002c0002t0085 a0002c0002t0089 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0104 a0002c0002t0105 a0002c0002t0115 a0002c0002t0116 a0002c0002t0127 a0002c0002t0128 a0002c0002t0131 a0002c0002t0134 a0002c0002t0135 a0002c0002t0136 a0002c0002t0140 a0002c0006t0051 a0002c0007t0059 a0004c0005t0122 a0005c0010t0082 a0007c0012t0073 a0008c0011t0044	a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0041 others(73): Show a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0041 a0001c0001t0023g0162 a0001c0001t0034g0161 a0001c0001t0040g0150 a0001c0001t0045g0066 a0001c0001t0049g0157 a0001c0001t0057g0156 a0001c0001t0074g0039 a0001c0001t0103g0132 a0001c0001t0119g0061 a0001c0001t0125g0033 a0001c0001t0133g0094 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0017g0097 a0002c0002t0018g0117 a0002c0002t0026g0115 a0002c0002t0035g0143 a0002c0002t0036g0158 a0002c0002t0037g0042 a0002c0002t0038g0082 a0002c0002t0039g0151 a0002c0002t0042g0079 a0002c0002t0047g0104 a0002c0002t0048g0070 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0060g0040 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0070g0138 a0002c0002t0072g0145 a0002c0002t0075g0073 a0002c0002t0076g0146 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0084g0025 a0002c0002t0085g0142 a0002c0002t0089g0037 a0002c0002t0098g0045 a0002c0002t0099g0131 a0002c0002t0100g0134 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0104g0043 a0002c0002t0105g0148 a0002c0002t0115g0049 a0002c0002t0116g0107 a0002c0002t0127g0155 a0002c0002t0128g0054 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0135g0093 a0002c0002t0136g0100 a0002c0002t0140g0108 a0002c0006t0051g0081 a0002c0007t0059g0071 a0004c0005t0122g0057 a0005c0010t0082g0126 a0007c0012t0073g0067 a0008c0011t0044g0068	76	162	0.4691	7	c.302 others(24): Show c.3024+180_3024+181insTTGGTGA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1485197	A A	ATTTCTCT ATTTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02257.hp2 others(5): Show HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02922.hp2 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0036 a0002c0002t0039 others(4): Show a0002c0002t0006 a0002c0002t0036 a0002c0002t0039 a0002c0002t0078 a0002c0002t0079 a0002c0002t0085 a0002c0002t0129	a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 others(5): Show a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 a0002c0002t0039g0151 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0085g0142 a0002c0002t0129g0106	8	162	0.0494	7	c.321 others(26): Show c.3214-4891_3214-4890insCTTTTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	ATATATAT ATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 NA19240.hp2 HG02572.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0079 a0002c0002t0134 a0002c0002t0079 a0002c0002t0134	a0002c0002t0079g0124 a0002c0002t0134g0105 a0002c0002t0079g0124 a0002c0002t0134g0105	2	162	0.0124	7	c.33 others(18): Show c.3316_*3317insTATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3317		chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	ATATATAT ATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03579.hp2 HG03139.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0016g0098 a0002c0002t0016g0101	2	162	0.0124	7	c.33 others(18): Show c.3318_*3319insTATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3319		chr12	TogoVar
ERC2_chr3_55503311_56473467	55675903	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03098.hp1 HG03834.hp1 others(2): Show HG00741.hp2 HG03098.hp1 HG03834.hp1 NA18962.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0002g0055 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0002g0055 a0001c0001t0003g0046 a0001c0001t0007g0024	5	74	0.0676	7	c.39 others(24): Show c.39+7884_*39+7890dupAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55816203	A A	AGCGTGAC AGCGTGAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG03041.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0007g0002 a0001c0001t0007g0024 others(1): Show a0001c0001t0001g0033 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0002t0001g0042	4	74	0.0541	7	c.256 others(28): Show c.2564+72185_2564+72186insGTCACGC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55879099	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01099.hp2 others(7): Show HG00741.hp2 HG01069.hp1 HG01099.hp2 HG02040.hp1 HG02145.hp1 HG02738.hp1 HG02965.hp2 HG03130.hp2 HG03831.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0004c0005t0003	a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0050 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0002g0005 a0001c0001t0002g0054 a0001c0001t0003g0068 a0001c0002t0001g0003 a0001c0002t0001g0067 a0004c0005t0003g0065	10	74	0.1351	7	c.256 others(26): Show c.2564+9283_2564+9289dupAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55920446	A A	ACACCCCC ACACCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG02145.hp2 others(1): Show HG01099.hp1 HG01109.hp2 HG02145.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0008 a0001c0001t0002g0058 others(1): Show a0001c0001t0001g0013 a0001c0001t0002g0008 a0001c0001t0002g0058 a0001c0001t0002g0066	4	74	0.0541	7	c.240 others(28): Show c.2403+29978_2403+29979insGGGGGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56252757	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp2 HG01346.hp1 others(16): Show HG00741.hp1 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG02145.hp1 HG02630.hp1 HG02738.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03710.hp2 HG03831.hp2 NA19030.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0003c0006t0004	a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0050 others(16): Show a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0003g0051 a0001c0001t0003g0070 a0001c0001t0004g0020 a0001c0001t0010g0045 a0001c0001t0011g0047 a0001c0001t0012g0023 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0042 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056 a0003c0006t0004g0060	19	74	0.2568	7	c.107 others(28): Show c.1074+43255_1074+43261dupTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56443958	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01099.hp2 others(15): Show HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG02040.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0002c0003t0001 a0003c0006t0004 a0004c0005t0003	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0005 others(15): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0005g0063 a0001c0001t0007g0002 a0001c0002t0001g0006 a0001c0002t0001g0067 a0001c0002t0002g0016 a0001c0002t0013g0074 a0002c0003t0001g0039 a0003c0006t0004g0060 a0004c0005t0003g0065	18	74	0.2432	7	c.-14 others(26): Show c.-140-8818_-140-8812dupAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	1/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45352122	A A	AGGGTGGG AGGGTGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG02040.hp1 others(11): Show HG00408.hp1 HG00544.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp1 NA18612.hp2 NA18959.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp2 NA18982.hp1 NA18993.hp2 NA19055.hp2 NA19070.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0020 others(1): Show a0001c0001 a0001c0002 a0001c0020 a0010c0022	a0001c0001t0001 a0001c0002t0001 a0001c0002t0030 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0030 a0001c0020t0001 a0010c0022t0007	a0001c0001t0001g0005 a0001c0001t0001g0107 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0164 a0001c0001t0001g0194 a0001c0002t0001g0256 a0001c0002t0030g0242 a0001c0020t0001g0195 a0010c0022t0007g0056	14	412	0.0340	7	c.219 others(22): Show c.2190+80_2190+86dupCCCACCC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	22/22			chr19	TogoVar
ERCC6L_chrX_72199665_72244027	72238948	T T	TTTGGAGC TTTGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG04199.hp1 NA18999.hp1 HG01884.hp2 HG04199.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0008 a0001c0001t0007 a0001c0004t0008	a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0004t0008g0215 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0004t0008g0215	3	286	0.0105	7	c.-44 others(14): Show c.-44_-38dupGCTCCAA	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	1/2	38		chrX	TogoVar
ERCC6_chr10_49449470_49544121	49449560	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02257.hp1 others(11): Show HG01167.hp1 HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0029 a0002c0012 a0001c0004 a0001c0029 a0002c0012	a0001c0004t0001 a0001c0029t0001 a0002c0012t0001 a0001c0004t0001 a0001c0029t0001 a0002c0012t0001	a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0140 others(9): Show a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0140 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0153 a0001c0029t0001g0152 a0002c0012t0001g0113	14	388	0.0361	7	c.92 others(18): Show c.9254_*9255insAAAAAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding		4909		chr10	TogoVar
EREG_chr4_74360145_74393749	74369364	T T	TCATAGTA TCATAGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG03490.hp2 HG02486.hp2 HG02717.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095	3	358	0.0084	7	c.67+ others(22): Show c.67+4012_67+4018dupATAGTAC	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172834267	A A	AGGCGAGT AGGCGAGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0329 a0001c0001t0009g0330 a0001c0001t0012g0331 a0001c0001t0009g0329 a0001c0001t0009g0330 a0001c0001t0012g0331	3	334	0.0090	7	c.-12 others(16): Show c.-124_-118dupGCGAGTG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	1/10	117	INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172862307	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02074.hp1 HG02523.hp1 others(10): Show HG01433.hp2 HG02074.hp1 HG02523.hp1 HG03831.hp1 HG04184.hp2 NA18939.hp2 NA18953.hp1 NA18964.hp1 NA18967.hp2 NA18995.hp2 NA19005.hp1 NA19010.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0002g0187 a0001c0001t0011g0099	13	334	0.0389	7	c.21- others(24): Show c.21-26373_21-26367dupAAAAAAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172894132	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00597.hp1 others(40): Show HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01257.hp1 HG01358.hp1 HG01943.hp2 HG01952.hp2 HG02071.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18942.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18988.hp2 NA19007.hp1 NA19065.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 others(40): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0305 a0001c0001t0002g0141 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0008g0149 a0001c0001t0008g0186 a0001c0001t0008g0231 a0001c0001t0011g0117 a0001c0001t0019g0068	43	334	0.1287	7	c.83- others(22): Show c.83-2852_83-2846dupTTTTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172897443	A A	AAAAAGAG AAAAAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01109.hp1 others(29): Show HG00639.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0034	a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0143 others(29): Show a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0143 a0001c0001t0001g0213 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0003g0021 a0001c0001t0003g0154 a0001c0001t0003g0309 a0001c0001t0003g0334 a0001c0001t0004g0326 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0155 a0001c0001t0005g0161 a0001c0001t0005g0209 a0001c0001t0005g0232 a0001c0001t0005g0292 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0006g0003 a0001c0001t0006g0013 a0001c0001t0008g0186 a0001c0001t0009g0329 a0001c0001t0013g0314 a0001c0001t0015g0198 a0001c0001t0030g0089 a0001c0001t0034g0086	32	334	0.0958	7	c.155 others(22): Show c.155+370_155+371insAAAGAGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172914246	A A	AAATAAAT AAATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG02055.hp1 others(4): Show HG01167.hp2 HG01261.hp2 HG02055.hp1 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0311 a0001c0001t0002g0082 a0001c0001t0002g0108 others(4): Show a0001c0001t0001g0311 a0001c0001t0002g0082 a0001c0001t0002g0108 a0001c0001t0003g0310 a0001c0001t0006g0191 a0001c0001t0027g0091 a0001c0001t0028g0088	7	334	0.0210	7	c.251 others(22): Show c.251-466_251-465insTAAATAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172914254	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00544.hp2 others(61): Show HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02109.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18952.hp1 NA18956.hp2 NA18969.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp2 NA19030.hp1 NA19058.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0003c0004t0003	a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0051 others(61): Show a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0305 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0055 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0159 a0001c0001t0002g0202 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0265 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0003g0021 a0001c0001t0003g0044 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0003g0309 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0322 a0001c0001t0005g0107 a0001c0001t0008g0149 a0001c0001t0008g0186 a0001c0001t0008g0231 a0001c0001t0009g0330 a0001c0001t0011g0099 a0001c0001t0011g0117 a0001c0001t0021g0022 a0003c0004t0003g0214	64	334	0.1916	7	c.251 others(22): Show c.251-457_251-456insAAATAAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172914254	A A	AAATAAAT AAATAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02922.hp2 others(8): Show HG02572.hp1 HG02647.hp1 HG02922.hp2 HG03195.hp1 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18968.hp1 NA18985.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0189 others(8): Show a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0189 a0001c0001t0001g0240 a0001c0001t0001g0274 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0003g0298 a0001c0001t0003g0315 a0001c0001t0003g0321 a0001c0001t0012g0331	11	334	0.0329	7	c.251 others(22): Show c.251-458_251-457insTAAATAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC2_chr12_29332352_29386172	29332509	G G	GTCACTCA GTCACTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG03516.hp1 HG00738.hp2 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	404	0.0074	7	c.86 others(18): Show c.8646_*8647insTGAGTGA	ERGIC2	ENSG00000087502.19	transcript	ENST00000360150.9	protein_coding		4842		chr12	TogoVar
ERGIC3_chr20_35537078_35562634	35544805	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(129): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19064.hp1 NA19072.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(78): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0218 a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0194 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0189 a0001c0003t0001g0224	132	364	0.3626	7	c.367 others(24): Show c.367+1879_367+1885dupTTTTTTT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ERG_chr21_38375036_38503477	38468982	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01978.hp2 others(4): Show HG01256.hp1 HG01258.hp1 HG01978.hp2 HG02074.hp1 HG02129.hp1 HG03669.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0002g0002 a0001c0001t0002g0168 a0001c0001t0002g0194 a0001c0001t0010g0192	7	360	0.0194	7	c.19- others(24): Show c.19-23368_19-23362dupTTTTTTT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38480591	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00642.hp2 others(28): Show HG00438.hp1 HG00597.hp1 HG00642.hp2 HG00738.hp2 HG01123.hp2 HG01243.hp2 HG01346.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG03486.hp1 HG03669.hp1 HG04115.hp2 NA18940.hp2 NA18967.hp1 NA19001.hp2 NA19003.hp1 NA19058.hp2 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0002t0012	a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0072 others(28): Show a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0292 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0003g0178 a0001c0001t0003g0188 a0001c0001t0004g0008 a0001c0001t0008g0071 a0001c0001t0014g0075 a0001c0001t0021g0068 a0001c0002t0012g0181	31	360	0.0861	7	c.18+ others(24): Show c.18+17765_18+17771dupAAAAAAA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERH_chr14_69375128_69403299	69387695	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01884.hp2 others(16): Show HG01081.hp2 HG01496.hp1 HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 NA18984.hp1 NA18993.hp1 NA19043.hp2 NA19062.hp1 NA19076.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(13): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0197	19	398	0.0477	7	c.92- others(20): Show c.92-619_92-613dupTTTTTTT	ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding	2/3			chr14	TogoVar
ERI1_chr8_8997897_9038338	9015722	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(33): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp2 HG01169.hp2 HG01256.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0000 a0001 a0000 a0001	a0000c0008 a0001c0002 a0001c0004 a0000c0008 a0001c0002 a0001c0004	a0000c0008t0021 a0001c0002t0004 a0001c0002t0027 others(1): Show a0000c0008t0021 a0001c0002t0004 a0001c0002t0027 a0001c0004t0004	a0000c0008t0021g0070 a0001c0002t0004g0004 a0001c0002t0004g0049 others(29): Show a0000c0008t0021g0070 a0001c0002t0004g0004 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0055 a0001c0002t0004g0058 a0001c0002t0004g0059 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0072 a0001c0002t0004g0075 a0001c0002t0004g0086 a0001c0002t0027g0101 a0001c0004t0004g0032 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0047	36	426	0.0845	7	c.499 others(22): Show c.499-587_499-581dupAAAAAAA	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44281601	A A	AAATATAT AAATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00673.hp2 others(13): Show HG00558.hp1 HG00621.hp1 HG00673.hp2 HG01106.hp1 HG01175.hp1 HG01952.hp1 HG02738.hp2 HG03492.hp1 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18944.hp1 NA18977.hp2 NA18989.hp2 NA19005.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0149 others(13): Show a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218	16	340	0.0471	7	c.831 others(24): Show c.831+3233_831+3234insATATATT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44281601	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp2 HG01934.hp2 others(4): Show HG01071.hp1 HG01361.hp2 HG01934.hp2 HG01978.hp1 HG02273.hp2 HG03017.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0154 others(4): Show a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0222	7	340	0.0206	7	c.831 others(24): Show c.831+3233_831+3234insATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERICH1_chr8_659200_736224	700291	G G	GCCACAGA GCCACAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02630.hp1 HG03098.hp1 others(1): Show HG01099.hp1 HG02630.hp1 HG03098.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0002c0005t0002 a0001c0001t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0223 a0002c0005t0001g0235 a0002c0005t0001g0236 others(1): Show a0001c0001t0001g0223 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0002g0284	4	378	0.0106	7	c.170 others(24): Show c.170-7680_170-7679insTCTGTGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98070660	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01884.hp2 others(15): Show HG00733.hp2 HG00738.hp2 HG01884.hp2 HG02055.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 others(15): Show a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0345 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0358 a0001c0001t0002g0359 a0002c0002t0001g0347 a0002c0002t0001g0351 a0003c0003t0001g0350	18	442	0.0407	7	c.58+ others(22): Show c.58+5949_58+5955dupAAAAAAA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98085136	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02818.hp2 NA18747.hp1 others(5): Show HG00323.hp2 HG02818.hp2 NA18747.hp1 NA18955.hp1 NA18986.hp2 NA18988.hp2 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0009c0013t0001 a0001c0001t0001 a0001c0001t0002 a0009c0013t0001	a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0109 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0272 a0001c0001t0002g0056 a0001c0001t0002g0394 a0009c0013t0001g0173	8	442	0.0181	7	c.59- others(22): Show c.59-3904_59-3898dupTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6_chr3_150654885_150708920	150665515	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG00741.hp2 others(20): Show HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01433.hp2 HG01934.hp2 HG01981.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG03225.hp2 HG03710.hp1 HG04115.hp1 HG06807.hp1 NA18906.hp1 NA18961.hp2 NA18974.hp2 NA18987.hp1 NA18994.hp1 NA19006.hp2 NA19068.hp2 NA19078.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0002c0029 a0003c0004 a0003c0006 a0010c0011	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0029t0001 a0003c0004t0001 a0003c0006t0001 a0010c0011t0002	a0001c0002t0001g0214 a0001c0002t0001g0255 a0001c0002t0001g0264 others(19): Show a0001c0002t0001g0214 a0001c0002t0001g0255 a0001c0002t0001g0264 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0274 a0001c0002t0001g0292 a0001c0003t0001g0008 a0001c0003t0001g0167 a0001c0003t0001g0179 a0001c0003t0001g0193 a0002c0001t0001g0029 a0002c0001t0001g0064 a0002c0001t0001g0080 a0002c0001t0001g0087 a0002c0001t0001g0098 a0002c0029t0001g0137 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0006t0001g0229 a0003c0006t0001g0288 a0010c0011t0002g0318	23	348	0.0661	7	c.172 others(26): Show c.1728+1265_1728+1271dupTTTTTTT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	13/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150682348	T T	TCCCCACA TCCCCACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00738.hp1 others(31): Show HG00609.hp1 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp2 HG01891.hp1 HG01975.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02738.hp1 HG02922.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18962.hp1 NA18969.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp1 NA19000.hp2 NA19009.hp1 NA19043.hp1 NA19058.hp2 NA19063.hp2 NA19068.hp1 NA19078.hp2 NA19085.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0026	a0001c0003 a0002c0001 a0003c0004 others(4): Show a0001c0003 a0002c0001 a0003c0004 a0003c0006 a0004c0005 a0006c0008 a0026c0033	a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 others(5): Show a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 a0003c0004t0002 a0003c0006t0002 a0004c0005t0001 a0006c0008t0001 a0026c0033t0001	a0001c0003t0001g0007 a0001c0003t0001g0144 a0001c0003t0001g0193 others(30): Show a0001c0003t0001g0007 a0001c0003t0001g0144 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0002c0001t0001g0043 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0053 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0132 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0004t0002g0192 a0003c0004t0002g0195 a0003c0006t0002g0259 a0004c0005t0001g0052 a0006c0008t0001g0326 a0006c0008t0001g0327 a0006c0008t0001g0334 a0026c0033t0001g0203	34	348	0.0977	7	c.784 others(20): Show c.784-39_784-33dupTGTGGGG	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	6/13			chr3	TogoVar
ERMARD_chr6_169746622_169786600	169775171	T T	TTTATAGA TTTATAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp1 HG02258.hp2 others(6): Show HG01099.hp1 HG02055.hp1 HG02258.hp2 HG02965.hp1 HG02965.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA19030.hp2	a0002 a0005 a0002 a0005	a0002c0006 a0005c0011 a0002c0006 a0005c0011	a0002c0006t0001 a0005c0011t0001 a0002c0006t0001 a0005c0011t0001	a0002c0006t0001g0051 a0002c0006t0001g0163 a0002c0006t0001g0164 others(5): Show a0002c0006t0001g0051 a0002c0006t0001g0163 a0002c0006t0001g0164 a0002c0006t0001g0165 a0002c0006t0001g0166 a0005c0011t0001g0053 a0005c0011t0001g0054 a0005c0011t0001g0055	9	379	0.0238	7	c.131 others(22): Show c.1318-98_1318-97insTATAGAT	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ERO1B_chr1_236210101_236286958	236213558	T T	TAAAAAAA TAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01928.hp2 HG01993.hp1 others(5): Show HG01346.hp2 HG01928.hp2 HG01993.hp1 HG02895.hp1 HG02976.hp1 HG03225.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0026 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0026 a0001c0001t0047	a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0302 others(5): Show a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0302 a0001c0001t0005g0104 a0001c0001t0026g0376 a0001c0001t0026g0386 a0001c0001t0026g0387 a0001c0001t0047g0105	8	396	0.0202	7	c.49 others(18): Show c.4951_*4957dupTTTTTTT	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding		1542		chr1	TogoVar
ERO1B_chr1_236210101_236286958	236216856	C C	CAATACTT CAATACTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02809.hp2 HG02886.hp1 HG01243.hp2 HG02809.hp2 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0025 a0003c0004t0025	a0003c0004t0025g0015 a0003c0004t0025g0017 a0003c0004t0025g0018 a0003c0004t0025g0015 a0003c0004t0025g0017 a0003c0004t0025g0018	3	396	0.0076	7	c.16 others(18): Show c.1659_*1660insAAGTATT	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	16/16	1659		chr1	TogoVar
ERO1B_chr1_236210101_236286958	236239909	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18953.hp1 NA18963.hp2 others(5): Show NA18612.hp1 NA18953.hp1 NA18963.hp2 NA18985.hp1 NA19011.hp2 NA19063.hp1 NA19064.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 others(1): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0021	a0001c0003t0003g0143 a0001c0003t0003g0176 a0001c0003t0003g0180 others(5): Show a0001c0003t0003g0143 a0001c0003t0003g0176 a0001c0003t0003g0180 a0001c0003t0003g0203 a0001c0003t0005g0161 a0001c0003t0005g0193 a0001c0003t0009g0140 a0001c0003t0021g0153	8	396	0.0202	7	c.505 others(24): Show c.505+3512_506-3511insAAAAAAA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236258149	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(66): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG02015.hp2 HG02027.hp1 HG02129.hp1 HG02602.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp2 NA19012.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 others(10): Show a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0009 a0001c0003t0018 a0001c0003t0020 a0001c0003t0021 a0001c0003t0033 a0001c0003t0046	a0001c0001t0003g0275 a0001c0001t0007g0259 a0001c0001t0007g0286 others(65): Show a0001c0001t0003g0275 a0001c0001t0007g0259 a0001c0001t0007g0286 a0001c0001t0007g0342 a0001c0003t0001g0004 a0001c0003t0001g0148 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0171 a0001c0003t0001g0183 a0001c0003t0001g0189 a0001c0003t0001g0194 a0001c0003t0001g0201 a0001c0003t0001g0205 a0001c0003t0001g0229 a0001c0003t0002g0069 a0001c0003t0002g0106 a0001c0003t0002g0139 a0001c0003t0002g0149 a0001c0003t0002g0151 a0001c0003t0002g0155 a0001c0003t0002g0164 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0195 a0001c0003t0002g0204 a0001c0003t0002g0227 a0001c0003t0003g0143 a0001c0003t0003g0180 a0001c0003t0003g0203 a0001c0003t0005g0161 a0001c0003t0005g0193 a0001c0003t0007g0096 a0001c0003t0007g0160 a0001c0003t0007g0199 a0001c0003t0007g0200 a0001c0003t0007g0216 a0001c0003t0007g0218 a0001c0003t0007g0219 a0001c0003t0007g0221 a0001c0003t0007g0222 a0001c0003t0007g0231 a0001c0003t0009g0140 a0001c0003t0009g0223 a0001c0003t0009g0225 a0001c0003t0018g0217 a0001c0003t0018g0220 a0001c0003t0018g0224 a0001c0003t0020g0158 a0001c0003t0021g0153 a0001c0003t0033g0144 a0001c0003t0033g0145 a0001c0003t0046g0187	69	396	0.1742	7	c.223 others(24): Show c.223-4651_223-4645dupTTTTTTT	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	2/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00621.hp1 others(23): Show HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01516.hp2 HG01943.hp1 HG01975.hp2 HG02155.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG03471.hp1 NA18945.hp1 NA18945.hp2 NA18955.hp2 NA18964.hp1 NA18983.hp2 NA19002.hp2 NA19007.hp2 NA19082.hp2 NA19090.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 others(23): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0005g0153 a0001c0001t0005g0193 a0001c0001t0007g0130 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0002t0001g0115 a0002c0004t0001g0211	26	220	0.1182	7	c.286 others(24): Show c.286+9125_286+9126insCTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar

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