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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ERBB2_chr17_39695064_39733658	39710488	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG04115.hp2 HG02602.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0095 a0001c0001t0002g0096	2	318	0.0063	0	c.901 others(5): Show c.901+7G>T		ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	7/26					chr17	TogoVar
ERBB2_chr17_39695064_39733658	39717313	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0048 a0001c0023t0004g0048	1	318	0.0031	0	c.173 others(6): Show c.1738-7C>A		ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	14/26					chr17	TogoVar
ERBB2_chr17_39695064_39733658	39725322	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0037 a0005c0010t0001g0037	2	318	0.0063	0	c.265 others(6): Show c.2650-5C>G		ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	21/26					chr17	TogoVar
ERBB3_chr12_56075165_56108505	56083910	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0013 a0001c0020 a0002c0003 a0003c0004 a0008c0014 a0010c0017 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0006t0002 a0001c0007t0002 a0001c0013t0003 a0001c0020t0001 a0002c0003t0003 a0003c0004t0008 a0008c0014t0002 a0010c0017t0003 a0011c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(216): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0314 a0001c0001t0001g0327 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0075 a0001c0001t0002g0159 a0001c0001t0002g0172 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0072 a0001c0001t0003g0132 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0083 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0097 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0160 a0001c0001t0004g0167 a0001c0001t0004g0181 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0134 a0001c0001t0005g0244 a0001c0001t0005g0316 a0001c0001t0006g0070 a0001c0001t0006g0324 a0001c0001t0009g0200 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0009g0203 a0001c0001t0009g0204 a0001c0001t0013g0205 a0001c0001t0014g0014 a0001c0001t0017g0182 a0001c0001t0018g0012 a0001c0001t0020g0093 a0001c0001t0022g0128 a0001c0002t0001g0049 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0162 a0001c0002t0003g0011 a0001c0002t0003g0071 a0001c0002t0003g0080 a0001c0002t0003g0101 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0171 a0001c0002t0005g0001 a0001c0002t0005g0081 a0001c0002t0005g0124 a0001c0002t0011g0109 a0001c0002t0011g0120 a0001c0002t0012g0015 a0001c0002t0012g0197 a0001c0002t0019g0015 a0001c0006t0002g0001 a0001c0007t0002g0102 a0001c0013t0003g0322 a0001c0020t0001g0002 a0002c0003t0003g0315 a0003c0004t0008g0019 a0003c0004t0008g0020 a0003c0004t0008g0157 a0003c0004t0008g0233 a0003c0004t0008g0234 a0003c0004t0008g0240 a0008c0014t0002g0013 a0010c0017t0003g0057 a0011c0010t0002g0115	256	392	0.6531	0	c.234 others(5): Show c.234+8A>T		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	2/27					chr12	TogoVar
ERBB3_chr12_56075165_56108505	56086524	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp1 HG03579.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0225 a0001c0001t0010g0226 a0001c0001t0010g0225 a0001c0001t0010g0226	2	392	0.0051	0	c.422 others(5): Show c.422-7A>T		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	3/27					chr12	TogoVar
ERBB3_chr12_56075165_56108505	56097038	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	392	0.0026	0	c.227 others(6): Show c.2275-7C>T		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	19/27					chr12	TogoVar
ERBB3_chr12_56075165_56108505	56099648	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	0	c.284 others(4): Show c.2840G>A	p.Cys others(6): Show p.Cys947Tyr	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	24/28	2976/5615	2840/4029	947/1342		chr12	TogoVar
ERBB3_chr12_56075165_56108505	56099650	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	0	c.284 others(4): Show c.2842T>G	p.Trp others(6): Show p.Trp948Gly	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	24/28	2978/5615	2842/4029	948/1342		chr12	TogoVar
ERBB3_chr12_56075165_56108505	56099752	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	0	c.293 others(6): Show c.2937+7A>T		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	24/27					chr12	TogoVar
ERBB3_chr12_56075165_56108505	56100027	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	0	c.312 others(4): Show c.3127G>C	p.Gly others(7): Show p.Gly1043Arg	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	25/28	3263/5615	3127/4029	1043/1342		chr12	TogoVar
ERBB3_chr12_56075165_56108505	56100033	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	0	c.312 others(6): Show c.3129+4A>G		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	25/27					chr12	TogoVar
ERBB3_chr12_56075165_56108505	56100034	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	0	c.312 others(6): Show c.3129+5G>A		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	25/27					chr12	TogoVar
ERBB3_chr12_56075165_56108505	56101522	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00733.hp1 HG00741.hp1 others(24): Show HG00280.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0013 a0002c0003 others(3): Show a0001c0001 a0001c0013 a0002c0003 a0002c0015 a0004c0022 a0006c0018	a0001c0001t0002 a0001c0013t0003 a0002c0003t0001 others(4): Show a0001c0001t0002 a0001c0013t0003 a0002c0003t0001 a0002c0003t0003 a0002c0015t0003 a0004c0022t0003 a0006c0018t0003	a0001c0001t0002g0159 a0001c0001t0002g0318 a0001c0001t0002g0319 others(23): Show a0001c0001t0002g0159 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0013t0003g0322 a0002c0003t0001g0024 a0002c0003t0001g0030 a0002c0003t0001g0241 a0002c0003t0003g0024 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0041 a0002c0003t0003g0043 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0228 a0002c0003t0003g0315 a0002c0015t0003g0282 a0004c0022t0003g0313 a0006c0018t0003g0301	27	392	0.0689	0	c.350 others(6): Show c.3503-7C>T		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	27/27					chr12	TogoVar
ERBB4_chr2_211370717_212543802	211420614	AAAAG AAAAG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG01496.hp1 HG02145.hp2 others(16): Show HG01192.hp1 HG01496.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp1 HG02809.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029	a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 others(16): Show a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0033 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0020g0028 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0025g0051 a0001c0001t0029g0054	19	56	0.3393	-4	c.296 others(17): Show c.2965-7_2965-4delCTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	24/27					chr2	TogoVar
ERBB4_chr2_211370717_212543802	211623922	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0009 a0001c0004t0021g0009	1	56	0.0179	0	c.220 others(4): Show c.2202A>G	p.Lys others(6): Show p.Lys734Lys	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/28	2474/12097	2202/3927	734/1308		chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673262	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02965.hp2 HG01891.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0016 a0001c0001t0004 a0001c0002t0016	a0001c0001t0004g0011 a0001c0002t0016g0019 a0001c0001t0004g0011 a0001c0002t0016g0019	2	56	0.0357	0	c.162 others(6): Show c.1623-5C>T		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27					chr2	TogoVar
ERBB4_chr2_211370717_212543802	211704198	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	0	c.119 others(6): Show c.1199-4G>A		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	10/27					chr2	TogoVar
ERBB4_chr2_211370717_212543802	211713654	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01175.hp2 HG01243.hp1 others(18): Show HG01069.hp1 HG01175.hp2 HG01243.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0016 a0001c0002t0018 a0001c0004t0021 a0002c0003t0001	a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0003g0050 others(18): Show a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0004g0033 a0001c0001t0005g0015 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0007g0018 a0001c0001t0007g0043 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0022 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0036 a0001c0002t0016g0019 a0001c0002t0018g0010 a0001c0004t0021g0009 a0002c0003t0001g0014	21	56	0.3750	-1	c.884 others(6): Show c.884-7delT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27					chr2	TogoVar
ERBIN_chr5_65921575_66087546	66038488	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02647.hp1 HG02257.hp1 HG02647.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0002g0229 a0005c0006t0002g0263	2	306	0.0065	0	c.130 others(6): Show c.1306+6A>G		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	15/25					chr5	TogoVar
ERC1_chr12_986223_1500931	1115868	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0041 a0009c0008t0041	a0009c0008t0041g0140 a0009c0008t0041g0140	1	162	0.0062	0	c.140 others(4): Show c.1404T>G	p.Ile others(6): Show p.Ile468Met	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/19	1660/9308	1404/3351	468/1116		chr12	TogoVar
ERC2_chr3_55503311_56473467	55950564	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG03041.hp1 HG01167.hp2 HG01169.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0001g0033 a0001c0001t0006g0026 a0001c0001t0006g0027	3	74	0.0405	0	c.226 others(6): Show c.2268-4T>G		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17					chr3	TogoVar
ERCC1_chr19_45402334_45428917	45421396	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp2 HG01261.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0023 a0005c0011t0023	a0005c0011t0023g0170 a0005c0011t0023g0170	1	420	0.0024	0	c.106 others(5): Show c.106-3C>T		ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	2/9					chr19	TogoVar
ERCC2_chr19_45344837_45375573	45352822	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02647.hp2 HG02895.hp1 HG02897.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0172	4	412	0.0097	0	c.183 others(6): Show c.1832-6C>T		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	19/22					chr19	TogoVar
ERCC2_chr19_45344837_45375573	45354725	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0191 a0002c0003t0037g0191	1	412	0.0024	0	c.166 others(6): Show c.1665+5G>A		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	17/22					chr19	TogoVar
ERCC2_chr19_45344837_45375573	45361648	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	412	0.0024	0	c.111 others(6): Show c.1119-6C>T		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	11/22					chr19	TogoVar
ERCC2_chr19_45344837_45375573	45364416	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0009 a0003c0026t0009	a0003c0026t0009g0200 a0003c0026t0009g0200	1	412	0.0024	0	c.718 others(5): Show c.718+8G>A		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	8/22					chr19	TogoVar
ERCC2_chr19_45344837_45375573	45364418	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02622.hp1 HG02622.hp2 others(9): Show HG02109.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0006 a0001c0001 a0001c0016 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0016t0001 a0003c0006t0014	a0001c0001t0001g0017 a0001c0001t0001g0177 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0036 a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0016t0001g0176 a0003c0006t0014g0186 a0003c0006t0014g0196	12	412	0.0291	0	c.718 others(5): Show c.718+6G>T		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	8/22					chr19	TogoVar
ERCC3_chr2_127252290_127299144	127257733	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	350	0.0029	0	c.221 others(6): Show c.2218-6C>T		ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	14/14					chr2	TogoVar
ERCC3_chr2_127252290_127299144	127288657	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG03041.hp1 HG03516.hp2 others(1): Show HG02258.hp1 HG03041.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268	4	350	0.0114	0	c.102 others(6): Show c.1027+3A>G		ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	7/14					chr2	TogoVar
ERCC4_chr16_13915154_13957348	13932150	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0002c0003 a0003c0004 a0004c0006 a0005c0007 a0006c0008 a0007c0015 a0008c0010 a0009c0012 a0010c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0021 a0001c0002t0023 a0001c0002t0027 a0001c0005t0001 a0001c0009t0015 a0001c0011t0022 a0001c0014t0024 a0001c0016t0029 a0001c0017t0001 a0002c0003t0001 a0002c0003t0006 a0003c0004t0002 a0004c0006t0001 a0005c0007t0002 a0006c0008t0001 a0007c0015t0026 a0008c0010t0005 a0009c0012t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0003g0021 a0001c0001t0003g0039 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0004g0005 a0001c0001t0004g0030 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0133 a0001c0001t0005g0010 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0008g0038 a0001c0001t0008g0105 a0001c0001t0008g0151 a0001c0001t0008g0152 a0001c0001t0012g0022 a0001c0001t0013g0036 a0001c0001t0013g0143 a0001c0001t0016g0082 a0001c0001t0017g0119 a0001c0001t0018g0029 a0001c0001t0020g0123 a0001c0001t0025g0163 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0142 a0001c0002t0007g0009 a0001c0002t0007g0099 a0001c0002t0007g0100 a0001c0002t0007g0102 a0001c0002t0009g0003 a0001c0002t0009g0046 a0001c0002t0009g0051 a0001c0002t0010g0023 a0001c0002t0010g0041 a0001c0002t0011g0014 a0001c0002t0014g0003 a0001c0002t0014g0050 a0001c0002t0021g0058 a0001c0002t0023g0101 a0001c0002t0027g0166 a0001c0005t0001g0008 a0001c0009t0015g0167 a0001c0009t0015g0168 a0001c0011t0022g0009 a0001c0014t0024g0091 a0001c0016t0029g0165 a0001c0017t0001g0001 a0002c0003t0001g0007 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0006g0016 a0002c0003t0006g0112 a0002c0003t0006g0146 a0002c0003t0006g0147 a0002c0003t0006g0148 a0003c0004t0002g0025 a0003c0004t0002g0067 a0003c0004t0002g0069 a0003c0004t0002g0070 a0003c0004t0002g0072 a0004c0006t0001g0017 a0005c0007t0002g0003 a0005c0007t0002g0049 a0006c0008t0001g0005 a0006c0008t0001g0108 a0007c0015t0026g0090 a0008c0010t0005g0155 a0009c0012t0001g0001 a0010c0013t0001g0001	306	340	0.9000	0	c.974 others(5): Show c.974-7G>A		ERCC4	ENSG00000175595.16	transcript	ENST00000311895.8	protein_coding	5/10					chr16	TogoVar
ERCC4_chr16_13915154_13957348	13932151	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG03669.hp2 HG02683.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0029 a0001c0001t0018g0029 a0001c0001t0001g0029 a0001c0001t0018g0029	2	340	0.0059	0	c.974 others(5): Show c.974-6T>C		ERCC4	ENSG00000175595.16	transcript	ENST00000311895.8	protein_coding	5/10					chr16	TogoVar
ERCC5_chr13_102841032_102880995	102852300	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG01884.hp2 HG01975.hp1 others(32): Show HG01192.hp1 HG01884.hp2 HG01975.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0002 a0008 a0012 a0002 a0008 a0012	a0002c0004 a0002c0005 a0008c0013 others(2): Show a0002c0004 a0002c0005 a0008c0013 a0008c0019 a0012c0014	a0002c0004t0002 a0002c0004t0009 a0002c0005t0002 others(3): Show a0002c0004t0002 a0002c0004t0009 a0002c0005t0002 a0008c0013t0002 a0008c0019t0002 a0012c0014t0002	a0002c0004t0002g0008 a0002c0004t0002g0035 a0002c0004t0002g0113 others(17): Show a0002c0004t0002g0008 a0002c0004t0002g0035 a0002c0004t0002g0113 a0002c0004t0002g0116 a0002c0004t0002g0117 a0002c0004t0002g0118 a0002c0004t0002g0119 a0002c0004t0002g0124 a0002c0004t0002g0250 a0002c0004t0009g0008 a0002c0005t0002g0003 a0002c0005t0002g0024 a0002c0005t0002g0115 a0002c0005t0002g0120 a0002c0005t0002g0121 a0002c0005t0002g0122 a0002c0005t0002g0123 a0008c0013t0002g0023 a0008c0019t0002g0023 a0012c0014t0002g0008	35	394	0.0888	0	c.264 others(5): Show c.264+7G>A		ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	2/14					chr13	TogoVar
ERCC5_chr13_102841032_102880995	102861712	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0002 a0015c0033t0002	a0015c0033t0002g0149 a0015c0033t0002g0149	1	394	0.0025	0	c.878 others(3): Show c.878A>T	p.Lys others(6): Show p.Lys293Ile	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	7/15	1113/3888	878/3561	293/1186		chr13	TogoVar
ERCC5_chr13_102841032_102880995	102872396	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0003 a0019c0023t0003	a0019c0023t0003g0247 a0019c0023t0003g0247	1	394	0.0025	0	c.287 others(4): Show c.2877A>C	p.Arg others(6): Show p.Arg959Ser	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	13/15	3112/3888	2877/3561	959/1186		chr13	TogoVar
ERCC6_chr10_49449470_49544121	49459232	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0248 a0023c0027t0001g0248	1	388	0.0026	0	c.406 others(4): Show c.4065T>G	p.Asp others(7): Show p.Asp1355Glu	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	21/21	4239/9001	4065/4482	1355/1493		chr10	TogoVar
ERCC6_chr10_49449470_49544121	49483339	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0008 a0006c0010t0008	a0006c0010t0008g0154 a0006c0010t0008g0154	1	388	0.0026	0	c.199 others(6): Show c.1992+7C>T		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	9/20					chr10	TogoVar
ERCC6_chr10_49449470_49544121	49493110	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030	a0001c0001 a0001c0004 a0001c0005 others(36): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0029 a0001c0030 a0001c0038 a0001c0040 a0002c0002 a0002c0007 a0002c0012 a0002c0025 a0003c0003 a0004c0006 a0004c0023 a0005c0008 a0006c0010 a0008c0014 a0009c0013 a0010c0017 a0011c0015 a0012c0018 a0013c0019 a0014c0016 a0015c0022 a0016c0028 a0017c0020 a0018c0024 a0019c0021 a0020c0031 a0021c0026 a0022c0039 a0024c0033 a0025c0032 a0026c0041 a0027c0035 a0028c0034 a0029c0036 a0030c0037	a0001c0001t0002 a0001c0001t0019 a0001c0001t0023 others(61): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0004t0001 a0001c0005t0003 a0001c0005t0025 a0001c0005t0026 a0001c0009t0002 a0001c0009t0035 a0001c0029t0001 a0001c0030t0031 a0001c0038t0002 a0001c0040t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0015 a0002c0002t0017 a0002c0002t0020 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0007t0004 a0002c0007t0021 a0002c0012t0001 a0002c0012t0014 a0002c0025t0014 a0003c0003t0001 a0004c0006t0001 a0004c0006t0010 a0004c0023t0010 a0005c0008t0001 a0005c0008t0029 a0006c0010t0008 a0008c0014t0003 a0009c0013t0013 a0010c0017t0003 a0010c0017t0024 a0011c0015t0004 a0012c0018t0002 a0013c0019t0002 a0014c0016t0018 a0015c0022t0004 a0016c0028t0001 a0017c0020t0005 a0018c0024t0001 a0019c0021t0012 a0020c0031t0002 a0021c0026t0030 a0022c0039t0002 a0024c0033t0003 a0025c0032t0016 a0026c0041t0002 a0027c0035t0001 a0028c0034t0001 a0029c0036t0016 a0030c0037t0003	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(312): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0019g0217 a0001c0001t0019g0220 a0001c0001t0023g0206 a0001c0001t0032g0228 a0001c0001t0033g0172 a0001c0001t0034g0176 a0001c0001t0036g0233 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0140 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0157 a0001c0005t0003g0003 a0001c0005t0003g0027 a0001c0005t0003g0029 a0001c0005t0003g0256 a0001c0005t0003g0257 a0001c0005t0003g0260 a0001c0005t0003g0267 a0001c0005t0003g0268 a0001c0005t0003g0269 a0001c0005t0003g0270 a0001c0005t0003g0271 a0001c0005t0003g0272 a0001c0005t0003g0273 a0001c0005t0003g0274 a0001c0005t0003g0275 a0001c0005t0003g0276 a0001c0005t0003g0278 a0001c0005t0003g0279 a0001c0005t0003g0280 a0001c0005t0003g0281 a0001c0005t0003g0284 a0001c0005t0003g0285 a0001c0005t0003g0286 a0001c0005t0003g0288 a0001c0005t0003g0289 a0001c0005t0003g0290 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0295 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0332 a0001c0005t0025g0156 a0001c0005t0026g0092 a0001c0009t0002g0017 a0001c0009t0002g0159 a0001c0009t0002g0164 a0001c0009t0002g0167 a0001c0009t0002g0189 a0001c0009t0002g0320 a0001c0009t0035g0193 a0001c0029t0001g0152 a0001c0030t0031g0175 a0001c0038t0002g0184 a0001c0040t0002g0245 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0051 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0057 a0002c0002t0004g0058 a0002c0002t0004g0059 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0079 a0002c0002t0004g0082 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0089 a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0050 a0002c0002t0005g0052 a0002c0002t0005g0076 a0002c0002t0005g0078 a0002c0002t0005g0080 a0002c0002t0005g0083 a0002c0002t0005g0084 a0002c0002t0005g0085 a0002c0002t0005g0088 a0002c0002t0006g0333 a0002c0002t0006g0334 a0002c0002t0006g0336 a0002c0002t0006g0337 a0002c0002t0006g0338 a0002c0002t0006g0340 a0002c0002t0006g0341 a0002c0002t0006g0343 a0002c0002t0009g0012 a0002c0002t0009g0204 a0002c0002t0009g0326 a0002c0002t0009g0328 a0002c0002t0012g0161 a0002c0002t0012g0162 a0002c0002t0015g0055 a0002c0002t0015g0056 a0002c0002t0017g0120 a0002c0002t0017g0327 a0002c0002t0020g0081 a0002c0002t0037g0342 a0002c0002t0038g0339 a0002c0002t0039g0335 a0002c0002t0040g0344 a0002c0007t0004g0009 a0002c0007t0004g0061 a0002c0007t0004g0063 a0002c0007t0004g0064 a0002c0007t0004g0065 a0002c0007t0004g0066 a0002c0007t0004g0068 a0002c0007t0004g0069 a0002c0007t0004g0070 a0002c0007t0004g0071 a0002c0007t0004g0072 a0002c0007t0004g0073 a0002c0007t0004g0077 a0002c0007t0021g0067 a0002c0012t0001g0113 a0002c0012t0014g0323 a0002c0012t0014g0325 a0002c0025t0014g0324 a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0142 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0266 a0003c0003t0001g0277 a0003c0003t0001g0283 a0004c0006t0001g0022 a0004c0006t0001g0023 a0004c0006t0001g0030 a0004c0006t0001g0031 a0004c0006t0001g0032 a0004c0006t0001g0033 a0004c0006t0001g0236 a0004c0006t0001g0301 a0004c0006t0001g0302 a0004c0006t0001g0303 a0004c0006t0001g0304 a0004c0006t0001g0305 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0310 a0004c0006t0001g0311 a0004c0006t0001g0312 a0004c0006t0001g0313 a0004c0006t0001g0314 a0004c0006t0001g0315 a0004c0006t0001g0316 a0004c0006t0001g0318 a0004c0006t0001g0319 a0004c0006t0001g0321 a0004c0006t0010g0006 a0004c0006t0010g0317 a0004c0023t0010g0309 a0005c0008t0001g0014 a0005c0008t0001g0128 a0005c0008t0001g0129 a0005c0008t0001g0130 a0005c0008t0001g0131 a0005c0008t0001g0132 a0005c0008t0001g0133 a0005c0008t0001g0134 a0005c0008t0001g0141 a0005c0008t0029g0139 a0006c0010t0008g0114 a0006c0010t0008g0115 a0006c0010t0008g0117 a0006c0010t0008g0118 a0006c0010t0008g0119 a0006c0010t0008g0154 a0008c0014t0003g0028 a0008c0014t0003g0282 a0009c0013t0013g0034 a0009c0013t0013g0329 a0010c0017t0003g0258 a0010c0017t0024g0259 a0011c0015t0004g0037 a0011c0015t0004g0038 a0012c0018t0002g0224 a0012c0018t0002g0225 a0013c0019t0002g0214 a0013c0019t0002g0219 a0014c0016t0018g0035 a0015c0022t0004g0062 a0016c0028t0001g0091 a0017c0020t0005g0060 a0018c0024t0001g0322 a0019c0021t0012g0205 a0020c0031t0002g0215 a0021c0026t0030g0330 a0022c0039t0002g0185 a0024c0033t0003g0296 a0025c0032t0016g0155 a0026c0041t0002g0174 a0027c0035t0001g0265 a0028c0034t0001g0121 a0029c0036t0016g0093 a0030c0037t0003g0287	357	388	0.9201	0	c.182 others(6): Show c.1821+7C>T		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	8/20					chr10	TogoVar
ERCC8_chr5_60861454_60950070	60898269	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0291	1	302	0.0033	0	c.843 others(5): Show c.843+7G>A		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	9/11					chr5	TogoVar
ERCC8_chr5_60861454_60950070	60902507	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0087 a0001c0006t0003g0087	1	302	0.0033	0	c.552 others(3): Show c.552T>A	p.Gly others(6): Show p.Gly184Gly	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	7/12	614/9414	552/1191	184/396		chr5	TogoVar
EREG_chr4_74360145_74393749	74365380	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	358	0.0028	0	c.67+ others(4): Show c.67+5G>A		EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	1/4					chr4	TogoVar
ERFE_chr2_238153970_238173890	238164075	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0019 a0009c0011t0005g0019	1	456	0.0022	0	c.688 others(3): Show c.688C>T	p.Pro others(6): Show p.Pro230Ser	ERFE	ENSG00000178752.16	transcript	ENST00000546354.6	protein_coding	5/8	726/2939	688/1065	230/354		chr2	TogoVar
ERGIC2_chr12_29332352_29386172	29357616	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG02559.hp1 HG02717.hp1 others(14): Show HG00438.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp1 NA18522.hp2 NA18967.hp2 NA18989.hp2 NA19001.hp1 NA19012.hp2 NA19063.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0042 a0001c0001t0046	a0001c0001t0007g0024 a0001c0001t0007g0040 a0001c0001t0007g0041 others(10): Show a0001c0001t0007g0024 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0114 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0123 a0001c0001t0008g0117 a0001c0001t0023g0115 a0001c0001t0024g0121 a0001c0001t0025g0122 a0001c0001t0042g0116 a0001c0001t0046g0119	17	404	0.0421	0	c.476 others(5): Show c.476+7T>G		ERGIC2	ENSG00000087502.19	transcript	ENST00000360150.9	protein_coding	7/13					chr12	TogoVar
ERGIC3_chr20_35537078_35562634	35556029	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01261.hp2 HG01891.hp2 others(15): Show HG01109.hp1 HG01261.hp2 HG01891.hp2 HG02109.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0049 others(11): Show a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0116 a0001c0003t0001g0132 a0001c0003t0001g0176 a0001c0003t0001g0181 a0001c0003t0001g0189 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0003g0222	18	364	0.0495	0	c.718 others(5): Show c.718-4A>G		ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	8/12					chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35556975	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00423.hp1 HG00639.hp2 others(69): Show HG00099.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01993.hp1 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18945.hp2 NA18947.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18974.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA19004.hp2 NA19043.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0017 others(44): Show a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0194 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0116 a0001c0003t0001g0132 a0001c0003t0001g0176 a0001c0003t0001g0181 a0001c0003t0001g0189 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0003g0222	72	364	0.1978	0	c.882 others(3): Show c.882A>G	p.Val others(6): Show p.Val294Val	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	11/13	902/1302	882/1152	294/383		chr20	TogoVar
ERH_chr14_69375128_69403299	69380645	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	398	0.0025	0	c.213 others(5): Show c.213-5C>G		ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding	3/3					chr14	TogoVar
ERI1_chr8_8997897_9038338	9007935	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG02055.hp1 HG02071.hp1 others(7): Show HG01106.hp1 HG02055.hp1 HG02071.hp1 HG02572.hp1 HG02647.hp1 HG03579.hp1 HG04204.hp1 NA18948.hp2 NA18967.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0054 a0002c0003t0002 a0002c0003t0007 others(2): Show a0001c0004t0054 a0002c0003t0002 a0002c0003t0007 a0002c0003t0046 a0002c0003t0050	a0001c0004t0054g0054 a0002c0003t0002g0324 a0002c0003t0002g0325 others(7): Show a0001c0004t0054g0054 a0002c0003t0002g0324 a0002c0003t0002g0325 a0002c0003t0002g0326 a0002c0003t0002g0327 a0002c0003t0002g0347 a0002c0003t0007g0348 a0002c0003t0007g0352 a0002c0003t0046g0302 a0002c0003t0050g0349	10	426	0.0235	1	c.109 others(6): Show c.109-6dupT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp2 HG01123.hp1 HG01361.hp1 others(19): Show HG01071.hp2 HG01123.hp1 HG01361.hp1 HG01928.hp2 HG01981.hp2 HG02135.hp1 HG02257.hp2 HG02293.hp2 HG03041.hp2 HG03490.hp2 HG03579.hp2 HG04204.hp2 NA18942.hp2 NA18949.hp2 NA18968.hp1 NA18968.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0001 a0000c0005 a0000c0013 others(3): Show a0000c0001 a0000c0005 a0000c0013 a0001c0002 a0001c0004 a0004c0009	a0000c0001t0001 a0000c0001t0003 a0000c0001t0036 others(6): Show a0000c0001t0001 a0000c0001t0003 a0000c0001t0036 a0000c0005t0001 a0000c0013t0001 a0001c0002t0004 a0001c0002t0018 a0001c0004t0045 a0004c0009t0025	a0000c0001t0001g0188 a0000c0001t0001g0189 a0000c0001t0001g0190 others(16): Show a0000c0001t0001g0188 a0000c0001t0001g0189 a0000c0001t0001g0190 a0000c0001t0001g0191 a0000c0001t0001g0192 a0000c0001t0001g0194 a0000c0001t0001g0195 a0000c0001t0001g0231 a0000c0001t0001g0265 a0000c0001t0003g0008 a0000c0001t0003g0243 a0000c0001t0036g0258 a0000c0005t0001g0193 a0000c0005t0001g0264 a0000c0013t0001g0267 a0001c0002t0004g0067 a0001c0002t0018g0074 a0001c0004t0045g0196 a0004c0009t0025g0304	22	426	0.0516	-2	c.109 others(13): Show c.109-7_109-6delTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0004	a0000c0001 a0000c0005 a0000c0008 others(5): Show a0000c0001 a0000c0005 a0000c0008 a0000c0012 a0001c0002 a0001c0004 a0002c0003 a0004c0009	a0000c0001t0001 a0000c0001t0003 a0000c0001t0005 others(38): Show a0000c0001t0001 a0000c0001t0003 a0000c0001t0005 a0000c0001t0008 a0000c0001t0013 a0000c0001t0022 a0000c0001t0032 a0000c0001t0033 a0000c0001t0034 a0000c0001t0037 a0000c0001t0038 a0000c0001t0039 a0000c0001t0040 a0000c0005t0001 a0000c0008t0003 a0000c0008t0021 a0000c0008t0035 a0000c0012t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0015 a0001c0002t0018 a0001c0002t0024 a0001c0002t0027 a0001c0002t0028 a0001c0002t0030 a0001c0002t0057 a0001c0002t0058 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0004t0002 a0001c0004t0006 a0001c0004t0009 a0001c0004t0012 a0001c0004t0026 a0001c0004t0029 a0001c0004t0044 a0002c0003t0052 a0004c0009t0025	a0000c0001t0001g0001 a0000c0001t0001g0005 a0000c0001t0001g0006 others(184): Show a0000c0001t0001g0001 a0000c0001t0001g0005 a0000c0001t0001g0006 a0000c0001t0001g0007 a0000c0001t0001g0016 a0000c0001t0001g0017 a0000c0001t0001g0020 a0000c0001t0001g0025 a0000c0001t0001g0106 a0000c0001t0001g0108 a0000c0001t0001g0110 a0000c0001t0001g0129 a0000c0001t0001g0134 a0000c0001t0001g0142 a0000c0001t0001g0143 a0000c0001t0001g0144 a0000c0001t0001g0145 a0000c0001t0001g0146 a0000c0001t0001g0147 a0000c0001t0001g0148 a0000c0001t0001g0149 a0000c0001t0001g0154 a0000c0001t0001g0155 a0000c0001t0001g0156 a0000c0001t0001g0163 a0000c0001t0001g0168 a0000c0001t0001g0169 a0000c0001t0001g0170 a0000c0001t0001g0171 a0000c0001t0001g0172 a0000c0001t0001g0173 a0000c0001t0001g0174 a0000c0001t0001g0175 a0000c0001t0001g0176 a0000c0001t0001g0177 a0000c0001t0001g0178 a0000c0001t0001g0179 a0000c0001t0001g0180 a0000c0001t0001g0185 a0000c0001t0001g0187 a0000c0001t0001g0228 a0000c0001t0001g0229 a0000c0001t0001g0233 a0000c0001t0001g0236 a0000c0001t0001g0240 a0000c0001t0001g0241 a0000c0001t0001g0242 a0000c0001t0003g0001 a0000c0001t0003g0003 a0000c0001t0003g0018 a0000c0001t0003g0019 a0000c0001t0003g0022 a0000c0001t0003g0109 a0000c0001t0003g0117 a0000c0001t0003g0130 a0000c0001t0003g0131 a0000c0001t0003g0132 a0000c0001t0003g0133 a0000c0001t0003g0136 a0000c0001t0003g0137 a0000c0001t0003g0138 a0000c0001t0003g0139 a0000c0001t0003g0140 a0000c0001t0003g0141 a0000c0001t0003g0151 a0000c0001t0003g0153 a0000c0001t0003g0157 a0000c0001t0003g0158 a0000c0001t0003g0159 a0000c0001t0003g0160 a0000c0001t0003g0184 a0000c0001t0003g0186 a0000c0001t0003g0232 a0000c0001t0003g0234 a0000c0001t0003g0260 a0000c0001t0005g0005 a0000c0001t0008g0001 a0000c0001t0008g0005 a0000c0001t0008g0012 a0000c0001t0008g0135 a0000c0001t0008g0235 a0000c0001t0013g0003 a0000c0001t0022g0021 a0000c0001t0032g0152 a0000c0001t0033g0150 a0000c0001t0034g0107 a0000c0001t0037g0182 a0000c0001t0038g0025 a0000c0001t0039g0261 a0000c0001t0040g0161 a0000c0005t0001g0127 a0000c0005t0001g0162 a0000c0005t0001g0164 a0000c0005t0001g0165 a0000c0005t0001g0166 a0000c0005t0001g0183 a0000c0005t0001g0225 a0000c0008t0003g0128 a0000c0008t0003g0239 a0000c0008t0021g0070 a0000c0008t0035g0277 a0000c0012t0001g0237 a0001c0002t0004g0004 a0001c0002t0004g0015 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0004g0059 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0069 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0004g0075 a0001c0002t0004g0100 a0001c0002t0004g0104 a0001c0002t0006g0026 a0001c0002t0006g0027 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0035 a0001c0002t0006g0036 a0001c0002t0006g0037 a0001c0002t0006g0280 a0001c0002t0006g0281 a0001c0002t0006g0287 a0001c0002t0006g0288 a0001c0002t0006g0291 a0001c0002t0006g0292 a0001c0002t0006g0293 a0001c0002t0006g0294 a0001c0002t0011g0284 a0001c0002t0011g0285 a0001c0002t0011g0286 a0001c0002t0011g0289 a0001c0002t0011g0290 a0001c0002t0011g0298 a0001c0002t0015g0080 a0001c0002t0015g0084 a0001c0002t0018g0077 a0001c0002t0018g0078 a0001c0002t0018g0087 a0001c0002t0024g0083 a0001c0002t0024g0085 a0001c0002t0027g0015 a0001c0002t0027g0101 a0001c0002t0028g0102 a0001c0002t0028g0103 a0001c0002t0030g0278 a0001c0002t0030g0279 a0001c0002t0057g0081 a0001c0002t0058g0082 a0001c0002t0061g0028 a0001c0002t0062g0028 a0001c0002t0064g0073 a0001c0004t0002g0167 a0001c0004t0002g0181 a0001c0004t0006g0283 a0001c0004t0009g0090 a0001c0004t0009g0091 a0001c0004t0009g0092 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0009g0096 a0001c0004t0009g0097 a0001c0004t0012g0111 a0001c0004t0012g0112 a0001c0004t0012g0113 a0001c0004t0012g0116 a0001c0004t0012g0227 a0001c0004t0026g0299 a0001c0004t0026g0300 a0001c0004t0029g0114 a0001c0004t0029g0115 a0001c0004t0044g0093 a0002c0003t0052g0266 a0004c0009t0025g0303	223	426	0.5235	-3	c.109 others(14): Show c.109-8_109-6delTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTT CTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01167.hp2 HG01517.hp1 others(8): Show HG01074.hp1 HG01167.hp2 HG01517.hp1 HG02132.hp2 HG02602.hp2 HG02896.hp2 HG03688.hp1 NA18747.hp1 NA18951.hp1 NA19072.hp2 NA20300.hp1	a0000 a0001 a0000 a0001	a0000c0001 a0001c0002 a0000c0001 a0001c0002	a0000c0001t0001 a0000c0001t0003 a0001c0002t0004 others(2): Show a0000c0001t0001 a0000c0001t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0015	a0000c0001t0001g0121 a0000c0001t0001g0122 a0000c0001t0001g0123 others(8): Show a0000c0001t0001g0121 a0000c0001t0001g0122 a0000c0001t0001g0123 a0000c0001t0001g0125 a0000c0001t0001g0126 a0000c0001t0003g0120 a0000c0001t0003g0124 a0001c0002t0004g0055 a0001c0002t0004g0086 a0001c0002t0006g0282 a0001c0002t0015g0076	11	426	0.0258	-4	c.109 others(15): Show c.109-9_109-6delTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0119 a0000c0001t0001g0119	1	426	0.0024	-10	c.109 others(22): Show c.109-15_109-6delTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar

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