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
EPHA5_chr4_65314567_65675489	65407514	C C	CTAAGT CTAAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0013 a0001c0016 a0001c0017 a0002c0007 a0002c0008 a0003c0005 a0004c0011 a0005c0014 a0006c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(66): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0029 a0001c0002t0039 a0001c0002t0048 a0001c0002t0051 a0001c0002t0052 a0001c0002t0056 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0016 a0001c0003t0017 a0001c0003t0020 a0001c0004t0001 a0001c0006t0035 a0001c0006t0054 a0001c0009t0059 a0001c0009t0060 a0001c0010t0061 a0001c0013t0001 a0001c0016t0001 a0001c0017t0025 a0002c0007t0001 a0002c0007t0002 a0002c0008t0041 a0003c0005t0003 a0003c0005t0004 a0003c0005t0009 a0004c0011t0010 a0005c0014t0001 a0006c0012t0029	a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0043 others(179): Show a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0076 a0001c0001t0003g0090 a0001c0001t0003g0103 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0024 a0001c0001t0004g0029 a0001c0001t0004g0051 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0082 a0001c0001t0004g0102 a0001c0001t0005g0156 a0001c0001t0005g0158 a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0204 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0221 a0001c0001t0005g0225 a0001c0001t0005g0229 a0001c0001t0006g0036 a0001c0001t0006g0085 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0108 a0001c0001t0007g0167 a0001c0001t0007g0170 a0001c0001t0007g0175 a0001c0001t0007g0185 a0001c0001t0007g0218 a0001c0001t0007g0220 a0001c0001t0007g0222 a0001c0001t0007g0224 a0001c0001t0007g0227 a0001c0001t0008g0094 a0001c0001t0008g0097 a0001c0001t0009g0039 a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0107 a0001c0001t0010g0139 a0001c0001t0010g0149 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0012g0008 a0001c0001t0012g0010 a0001c0001t0014g0014 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0014g0067 a0001c0001t0015g0207 a0001c0001t0015g0215 a0001c0001t0016g0114 a0001c0001t0016g0115 a0001c0001t0017g0089 a0001c0001t0018g0093 a0001c0001t0018g0112 a0001c0001t0019g0104 a0001c0001t0019g0106 a0001c0001t0019g0110 a0001c0001t0020g0066 a0001c0001t0021g0144 a0001c0001t0021g0145 a0001c0001t0021g0147 a0001c0001t0022g0189 a0001c0001t0023g0179 a0001c0001t0023g0182 a0001c0001t0023g0195 a0001c0001t0024g0025 a0001c0001t0024g0026 a0001c0001t0025g0072 a0001c0001t0026g0155 a0001c0001t0027g0140 a0001c0001t0027g0143 a0001c0001t0028g0141 a0001c0001t0028g0142 a0001c0001t0030g0165 a0001c0001t0030g0181 a0001c0001t0031g0001 a0001c0001t0032g0004 a0001c0001t0038g0109 a0001c0001t0042g0105 a0001c0001t0043g0111 a0001c0001t0045g0091 a0001c0001t0049g0174 a0001c0001t0050g0191 a0001c0001t0053g0178 a0001c0001t0057g0190 a0001c0001t0058g0231 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0040 a0001c0002t0001g0059 a0001c0002t0001g0071 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0116 a0001c0002t0002g0159 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0202 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0002g0228 a0001c0002t0010g0150 a0001c0002t0029g0162 a0001c0002t0039g0015 a0001c0002t0048g0226 a0001c0002t0051g0230 a0001c0002t0052g0217 a0001c0002t0056g0214 a0001c0003t0003g0125 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0137 a0001c0003t0004g0138 a0001c0003t0006g0121 a0001c0003t0006g0127 a0001c0003t0016g0123 a0001c0003t0017g0129 a0001c0003t0017g0130 a0001c0003t0020g0118 a0001c0003t0020g0119 a0001c0004t0001g0122 a0001c0004t0001g0124 a0001c0004t0001g0131 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0006t0035g0011 a0001c0006t0054g0172 a0001c0009t0059g0232 a0001c0009t0060g0233 a0001c0010t0061g0234 a0001c0013t0001g0022 a0001c0016t0001g0081 a0001c0017t0025g0120 a0002c0007t0001g0074 a0002c0007t0002g0161 a0002c0008t0041g0056 a0003c0005t0003g0052 a0003c0005t0003g0055 a0003c0005t0004g0053 a0003c0005t0009g0054 a0004c0011t0010g0154 a0005c0014t0001g0079 a0006c0012t0029g0205	182	234	0.7778	5	c.168 others(24): Show c.1688-3036_1688-3035insACTTA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	7/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65488885	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00738.hp1 others(8): Show HG00280.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01175.hp2 HG01981.hp1 HG02738.hp1 HG04204.hp2 HG04228.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0008	a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0057 a0001c0001t0058 a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0002c0008t0041	a0001c0001t0004g0068 a0001c0001t0007g0185 a0001c0001t0014g0067 others(8): Show a0001c0001t0004g0068 a0001c0001t0007g0185 a0001c0001t0014g0067 a0001c0001t0057g0190 a0001c0001t0058g0231 a0001c0002t0002g0193 a0001c0003t0003g0132 a0001c0003t0003g0137 a0001c0003t0004g0138 a0001c0004t0001g0131 a0002c0008t0041g0056	11	234	0.0470	5	c.140 others(24): Show c.1402+1487_1402+1491dupAAAAA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65575996	G G	GAAGAA GAAGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19011.hp1 HG01515.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0052 a0001c0002t0002 a0001c0002t0052	a0001c0002t0002g0159 a0001c0002t0052g0217 a0001c0002t0002g0159 a0001c0002t0052g0217	2	234	0.0086	5	c.910 others(24): Show c.910+25644_910+25645insTTCTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576115	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00738.hp2 others(4): Show HG00099.hp1 HG00323.hp2 HG00738.hp2 HG01943.hp1 HG02698.hp2 HG03490.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001	a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0075 others(4): Show a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0008g0084 a0001c0002t0001g0077	7	234	0.0299	5	c.910 others(24): Show c.910+25521_910+25525dupCTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65612041	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp2 NA18906.hp1 HG02723.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0022 a0001c0001t0016 a0001c0001t0022	a0001c0001t0016g0114 a0001c0001t0016g0115 a0001c0001t0022g0189 a0001c0001t0016g0114 a0001c0001t0016g0115 a0001c0001t0022g0189	3	234	0.0128	5	c.247 others(22): Show c.247-9742_247-9738dupTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	2/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65640278	T T	TTTTTC TTTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01978.hp2 HG02055.hp2 others(9): Show HG01175.hp1 HG01978.hp2 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02698.hp1 NA18957.hp2 NA19004.hp2 NA19043.hp1 NA19063.hp2 NA19083.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(7): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0048 a0002c0007t0002	a0001c0001t0005g0187 a0001c0001t0005g0210 a0001c0001t0005g0225 others(9): Show a0001c0001t0005g0187 a0001c0001t0005g0210 a0001c0001t0005g0225 a0001c0001t0007g0170 a0001c0001t0011g0197 a0001c0001t0015g0213 a0001c0001t0018g0093 a0001c0001t0023g0182 a0001c0002t0001g0116 a0001c0002t0002g0202 a0001c0002t0048g0226 a0002c0007t0002g0161	12	234	0.0513	5	c.246 others(22): Show c.246+3084_246+3085insGAAAA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	2/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65650559	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01978.hp2 others(3): Show HG00438.hp1 HG00597.hp1 HG01978.hp2 HG02055.hp1 HG02135.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0030 a0001c0002t0002 others(1): Show a0001c0001t0015 a0001c0001t0030 a0001c0002t0002 a0001c0002t0056	a0001c0001t0015g0213 a0001c0001t0030g0181 a0001c0002t0002g0180 others(3): Show a0001c0001t0015g0213 a0001c0001t0030g0181 a0001c0002t0002g0180 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0056g0214	6	234	0.0256	5	c.182 others(22): Show c.182-7137_182-7133dupTTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96931018	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG02486.hp2 others(3): Show HG00735.hp1 HG01175.hp2 HG02486.hp2 NA19004.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0002t0026	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0059 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0059 a0001c0001t0014g0045 a0001c0002t0001g0074 a0001c0002t0026g0032	6	82	0.0732	5	c.451 others(24): Show c.451-56309_451-56308insAGAAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97012626	T T	TATGTA TATGTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02258.hp1 others(4): Show HG01257.hp2 HG01258.hp1 HG02258.hp1 HG02886.hp1 HG03139.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0018 a0001c0004t0002	a0001c0001t0001g0024 a0001c0001t0006g0023 a0001c0002t0001g0022 others(4): Show a0001c0001t0001g0024 a0001c0001t0006g0023 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0003t0018g0020 a0001c0004t0002g0026 a0001c0004t0002g0027	7	82	0.0854	5	c.111 others(26): Show c.1114+24633_1114+24634insATGTA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97060923	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02965.hp1 HG03486.hp1 others(2): Show HG02523.hp2 HG02965.hp1 HG03486.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 others(2): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0027 a0001c0004t0003	a0001c0003t0002g0036 a0001c0003t0003g0039 a0001c0003t0013g0001 others(2): Show a0001c0003t0002g0036 a0001c0003t0003g0039 a0001c0003t0013g0001 a0001c0003t0027g0003 a0001c0004t0003g0038	5	82	0.0610	5	c.111 others(26): Show c.1114+72953_1114+72957dupAAAAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97319707	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG03225.hp1 others(1): Show HG01243.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0018	a0001c0003t0003g0012 a0001c0003t0004g0010 a0001c0003t0011g0011 others(1): Show a0001c0003t0003g0012 a0001c0003t0004g0010 a0001c0003t0011g0011 a0001c0003t0018g0020	4	82	0.0488	5	c.160 others(26): Show c.1606+75431_1606+75435dupAAAAC	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97320816	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 NA19043.hp1 others(1): Show HG03139.hp2 HG03225.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0004 a0001c0003t0011 others(1): Show a0001c0001t0014 a0001c0003t0004 a0001c0003t0011 a0001c0003t0018	a0001c0001t0014g0045 a0001c0003t0004g0010 a0001c0003t0011g0011 others(1): Show a0001c0001t0014g0045 a0001c0003t0004g0010 a0001c0003t0011g0011 a0001c0003t0018g0020	4	82	0.0488	5	c.160 others(26): Show c.1606+76531_1606+76535dupAAAAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97472955	G G	GTAATA GTAATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG01256.hp2 others(31): Show HG00735.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp1 NA19004.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0006 others(4): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0002c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(18): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0023 a0001c0006t0002 a0001c0006t0021 a0001c0007t0002 a0001c0009t0007 a0001c0010t0022 a0002c0008t0002	a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 others(31): Show a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0052 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0003g0043 a0001c0002t0004g0079 a0001c0002t0005g0055 a0001c0002t0006g0053 a0001c0002t0006g0070 a0001c0002t0007g0034 a0001c0002t0019g0006 a0001c0002t0020g0042 a0001c0002t0024g0031 a0001c0002t0025g0008 a0001c0002t0026g0032 a0001c0004t0001g0075 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0004t0003g0035 a0001c0004t0003g0037 a0001c0004t0003g0038 a0001c0004t0023g0073 a0001c0006t0002g0047 a0001c0006t0021g0049 a0001c0007t0002g0033 a0001c0009t0007g0014 a0001c0010t0022g0050 a0002c0008t0002g0065	34	82	0.4146	5	c.189 others(24): Show c.1895-2394_1895-2393insTATAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97477448	A A	AAGGGG AAGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG03130.hp2 HG02280.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0002t0001g0078 a0001c0002t0004g0079 a0001c0002t0005g0055 a0001c0002t0001g0078 a0001c0002t0004g0079 a0001c0002t0005g0055	3	82	0.0366	5	c.200 others(24): Show c.2004-1827_2004-1823dupGGAGG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97489817	A A	ATATCT ATATCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG01243.hp2 others(16): Show HG00642.hp1 HG01175.hp1 HG01243.hp2 HG02258.hp1 HG02486.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0018 a0001c0003t0027 a0001c0005t0004	a0001c0001t0001g0024 a0001c0001t0002g0021 a0001c0001t0004g0016 others(16): Show a0001c0001t0001g0024 a0001c0001t0002g0021 a0001c0001t0004g0016 a0001c0001t0004g0071 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0009g0019 a0001c0001t0009g0076 a0001c0001t0014g0045 a0001c0001t0028g0015 a0001c0003t0002g0036 a0001c0003t0003g0012 a0001c0003t0004g0010 a0001c0003t0011g0011 a0001c0003t0013g0001 a0001c0003t0018g0020 a0001c0003t0027g0003 a0001c0005t0004g0046 a0001c0005t0004g0048	19	82	0.2317	5	c.220 others(24): Show c.2200+5760_2200+5761insTCTTA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97588417	T T	TTAAGG TTAAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0011 a0001c0003t0004 a0001c0003t0011	a0001c0003t0004g0004 a0001c0003t0011g0002 a0001c0003t0004g0004 a0001c0003t0011g0002	2	82	0.0244	5	c.238 others(24): Show c.2387-4194_2387-4193insAAGGT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97668911	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02559.hp1 others(1): Show HG02257.hp1 HG02486.hp1 HG02559.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0002t0003 a0001c0002t0019 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0002t0019 a0001c0003t0027	a0001c0001t0009g0076 a0001c0002t0003g0043 a0001c0002t0019g0006 others(1): Show a0001c0001t0009g0076 a0001c0002t0003g0043 a0001c0002t0019g0006 a0001c0003t0027g0003	4	82	0.0488	5	c.278 others(26): Show c.2784+30858_2784+30862dupAAAAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134793838	A A	AGGGGC AGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02132.hp1 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18948.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0016 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0004t0014 a0001c0005t0001 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0007t0003 a0001c0007t0007 a0001c0007t0009 a0001c0008t0008 a0001c0016t0001 a0002c0014t0002	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 others(67): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0003g0053 a0001c0001t0003g0083 a0001c0001t0006g0047 a0001c0001t0007g0027 a0001c0001t0009g0042 a0001c0001t0014g0029 a0001c0001t0017g0059 a0001c0001t0021g0058 a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0087 a0001c0002t0002g0073 a0001c0002t0006g0072 a0001c0002t0006g0074 a0001c0002t0007g0026 a0001c0002t0019g0075 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0088 a0001c0003t0003g0054 a0001c0003t0006g0063 a0001c0003t0007g0044 a0001c0004t0001g0020 a0001c0004t0001g0022 a0001c0004t0001g0030 a0001c0004t0001g0045 a0001c0004t0001g0056 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0084 a0001c0004t0002g0033 a0001c0004t0002g0037 a0001c0004t0002g0041 a0001c0004t0002g0077 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0005t0001g0025 a0001c0006t0001g0086 a0001c0006t0012g0085 a0001c0006t0022g0019 a0001c0007t0003g0068 a0001c0007t0007g0043 a0001c0007t0009g0028 a0001c0008t0008g0024 a0001c0016t0001g0071 a0002c0014t0002g0031	70	134	0.5224	5	c.-17 others(16): Show c.-1794_-1793insGGGGC	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding		1421		chr3	TogoVar
EPHB1_chr3_134790260_135265467	134811242	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02723.hp2 others(8): Show HG01243.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0002t0007 a0001c0004t0001 a0001c0004t0009 a0001c0004t0014 a0001c0007t0007 a0001c0008t0008	a0001c0001t0002g0052 a0001c0001t0003g0053 a0001c0001t0007g0027 others(8): Show a0001c0001t0002g0052 a0001c0001t0003g0053 a0001c0001t0007g0027 a0001c0001t0009g0042 a0001c0001t0014g0029 a0001c0002t0007g0026 a0001c0004t0001g0022 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0007t0007g0043 a0001c0008t0008g0024	11	134	0.0821	5	c.58+ others(22): Show c.58+15570_58+15574dupTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882758	C C	CTTTCT CTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp1 others(35): Show HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01884.hp1 HG02055.hp1 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0005t0003 a0001c0006t0026 a0001c0007t0003 a0001c0010t0008 a0001c0013t0001 a0001c0015t0008 a0002c0014t0002	a0001c0001t0001g0055 a0001c0001t0001g0126 a0001c0001t0002g0070 others(35): Show a0001c0001t0001g0055 a0001c0001t0001g0126 a0001c0001t0002g0070 a0001c0001t0005g0102 a0001c0001t0024g0107 a0001c0002t0001g0012 a0001c0002t0001g0032 a0001c0002t0002g0073 a0001c0002t0004g0110 a0001c0002t0005g0103 a0001c0002t0006g0072 a0001c0002t0006g0125 a0001c0002t0018g0121 a0001c0003t0001g0057 a0001c0003t0002g0094 a0001c0003t0003g0054 a0001c0003t0004g0113 a0001c0003t0004g0119 a0001c0003t0005g0099 a0001c0003t0006g0063 a0001c0003t0011g0100 a0001c0004t0001g0030 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0128 a0001c0004t0002g0004 a0001c0004t0002g0015 a0001c0004t0002g0041 a0001c0004t0002g0093 a0001c0004t0004g0111 a0001c0004t0004g0112 a0001c0005t0003g0131 a0001c0006t0026g0117 a0001c0007t0003g0068 a0001c0010t0008g0104 a0001c0013t0001g0007 a0001c0015t0008g0013 a0002c0014t0002g0031	38	134	0.2836	5	c.59- others(22): Show c.59-43056_59-43055insTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882814	C C	CTTTCT CTTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp1 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0005 a0001c0004t0002g0127 a0001c0001t0002g0005 a0001c0004t0002g0127	2	134	0.0149	5	c.59- others(22): Show c.59-42999_59-42995dupTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134909109	T T	TGGGCG TGGGCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02258.hp1 HG02273.hp2 others(1): Show HG01074.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0024 a0001c0002t0018 a0001c0003t0002 others(1): Show a0001c0001t0024 a0001c0002t0018 a0001c0003t0002 a0001c0003t0004	a0001c0001t0024g0107 a0001c0002t0018g0121 a0001c0003t0002g0014 others(1): Show a0001c0001t0024g0107 a0001c0002t0018g0121 a0001c0003t0002g0014 a0001c0003t0004g0113	4	134	0.0299	5	c.59- others(22): Show c.59-16704_59-16703insCGGGG	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134955071	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG02572.hp2 others(3): Show HG00323.hp1 HG00639.hp1 HG02572.hp2 HG04199.hp2 NA18948.hp1 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0004t0001 a0001c0004t0002	a0001c0002t0001g0036 a0001c0002t0003g0134 a0001c0002t0006g0072 others(3): Show a0001c0002t0001g0036 a0001c0002t0003g0134 a0001c0002t0006g0072 a0001c0002t0010g0095 a0001c0004t0001g0020 a0001c0004t0002g0033	6	134	0.0448	5	c.805 others(22): Show c.805+3047_805+3051dupTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135052860	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01978.hp1 others(3): Show HG01106.hp1 HG01175.hp2 HG01978.hp1 HG01981.hp2 HG02132.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0016 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004	a0001c0001t0001g0065 a0001c0002t0001g0064 a0001c0002t0016g0116 others(3): Show a0001c0001t0001g0065 a0001c0002t0001g0064 a0001c0002t0016g0116 a0001c0004t0001g0069 a0001c0004t0002g0093 a0001c0004t0004g0112	6	134	0.0448	5	c.806 others(24): Show c.806-53561_806-53557dupAAAAA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135182986	C C	CTTTCT CTTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03209.hp2 HG03486.hp2 others(1): Show HG01074.hp1 HG03209.hp2 HG03486.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002	a0001c0002t0001g0123 a0001c0002t0010g0096 a0001c0003t0001g0049 others(1): Show a0001c0002t0001g0123 a0001c0002t0010g0096 a0001c0003t0001g0049 a0001c0003t0002g0088	4	134	0.0299	5	c.188 others(24): Show c.1882+3047_1882+3051dupTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135257730	C C	CTGTAG CTGTAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00673.hp1 others(53): Show HG00323.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18948.hp1 NA19030.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0024 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0002t0019 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0003t0020 a0001c0004t0002 a0001c0004t0009 a0001c0006t0001 a0001c0006t0026 a0001c0007t0009 a0001c0008t0008 a0001c0010t0008 a0001c0011t0023 a0001c0015t0008 a0002c0014t0002	a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0002 others(53): Show a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0006g0047 a0001c0001t0009g0042 a0001c0001t0015g0109 a0001c0001t0024g0107 a0001c0002t0002g0011 a0001c0002t0002g0073 a0001c0002t0006g0072 a0001c0002t0006g0074 a0001c0002t0006g0125 a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0002t0011g0098 a0001c0002t0015g0108 a0001c0002t0016g0114 a0001c0002t0016g0116 a0001c0002t0019g0075 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0088 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0006g0063 a0001c0003t0011g0100 a0001c0003t0020g0124 a0001c0004t0002g0004 a0001c0004t0002g0015 a0001c0004t0002g0033 a0001c0004t0002g0037 a0001c0004t0002g0041 a0001c0004t0002g0077 a0001c0004t0002g0093 a0001c0004t0002g0127 a0001c0004t0009g0023 a0001c0006t0001g0086 a0001c0006t0026g0117 a0001c0007t0009g0028 a0001c0008t0008g0024 a0001c0010t0008g0104 a0001c0011t0023g0115 a0001c0015t0008g0013 a0002c0014t0002g0031	56	134	0.4179	5	c.284 others(24): Show c.2847-1280_2847-1279insTAGTG	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22720660	T T	TCCCCC TCCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01243.hp2 others(17): Show HG00544.hp1 HG00597.hp1 HG01243.hp2 HG01257.hp1 HG01952.hp2 HG01978.hp1 HG02451.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG04115.hp1 HG04184.hp1 NA18951.hp1 NA18980.hp2 NA18995.hp2 NA19065.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0045 a0001c0002t0001 a0001c0003t0040 a0001c0010t0048 a0003c0011t0002	a0001c0001t0001g0054 a0001c0001t0001g0163 a0001c0001t0001g0183 others(17): Show a0001c0001t0001g0054 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0003g0081 a0001c0001t0003g0188 a0001c0001t0010g0186 a0001c0001t0010g0205 a0001c0001t0016g0069 a0001c0001t0017g0039 a0001c0001t0019g0184 a0001c0001t0045g0187 a0001c0002t0001g0182 a0001c0003t0040g0050 a0001c0010t0048g0207 a0003c0011t0002g0049	20	248	0.0807	5	c.61+ others(20): Show c.61+9626_61+9630dupCCCCC	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22795465	C C	CGTTTT CGTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 NA18906.hp2 others(1): Show HG01243.hp1 HG02647.hp2 NA18906.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0002t0002 a0001c0002t0011 others(1): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0011 a0001c0006t0022	a0001c0001t0005g0104 a0001c0002t0002g0164 a0001c0002t0011g0095 others(1): Show a0001c0001t0005g0104 a0001c0002t0002g0164 a0001c0002t0011g0095 a0001c0006t0022g0105	4	248	0.0161	5	c.811 others(24): Show c.811+10416_811+10420dupTTTTG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB6_chr7_142850076_142876093	142858602	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02559.hp2 HG02630.hp1 others(6): Show HG00642.hp2 HG02559.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp2 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0006 a0003c0005t0002g0020 a0003c0005t0002g0031 a0003c0005t0002g0006 a0003c0005t0002g0020 a0003c0005t0002g0031	9	311	0.0289	5	c.-43 others(24): Show c.-431-2437_-431-2433dupTTTTT	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHX2_chr8_27486143_27550564	27487357	A A	ACTCTT ACTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp2 others(36): Show HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG02027.hp1 HG02145.hp2 HG02293.hp1 HG02523.hp1 HG02735.hp2 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19065.hp1 NA19068.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0013 a0014	a0001c0001 a0001c0005 a0002c0003 others(5): Show a0001c0001 a0001c0005 a0002c0003 a0002c0008 a0003c0006 a0007c0029 a0013c0028 a0014c0027	a0001c0001t0001 a0001c0001t0011 a0001c0005t0003 others(7): Show a0001c0001t0001 a0001c0001t0011 a0001c0005t0003 a0001c0005t0006 a0002c0003t0003 a0002c0008t0002 a0003c0006t0002 a0007c0029t0003 a0013c0028t0001 a0014c0027t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0088 others(36): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0309 a0001c0001t0011g0122 a0001c0005t0003g0144 a0001c0005t0006g0089 a0002c0003t0003g0030 a0002c0003t0003g0049 a0002c0003t0003g0056 a0002c0003t0003g0059 a0002c0008t0002g0041 a0002c0008t0002g0048 a0002c0008t0002g0068 a0003c0006t0002g0350 a0003c0006t0002g0359 a0007c0029t0003g0348 a0013c0028t0001g0147 a0014c0027t0001g0161	39	374	0.1043	5	c.-38 others(16): Show c.-3852_-3851insCTCTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding		3785		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27501387	C C	CCTTCT CCTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02257.hp2 HG02293.hp1 others(2): Show HG00733.hp1 HG02257.hp2 HG02293.hp1 HG02683.hp1 HG03139.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0006 a0003c0007	a0003c0006t0002 a0003c0007t0004 a0003c0006t0002 a0003c0007t0004	a0003c0006t0002g0311 a0003c0006t0002g0350 a0003c0006t0002g0358 others(2): Show a0003c0006t0002g0311 a0003c0006t0002g0350 a0003c0006t0002g0358 a0003c0007t0004g0312 a0003c0007t0004g0320	5	374	0.0134	5	c.186 others(20): Show c.186+377_186+378insCTTCT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18			chr8	TogoVar
EPHX2_chr8_27486143_27550564	27535163	A A	ATATTT ATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02809.hp1 others(4): Show HG01884.hp2 HG02258.hp1 HG02809.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0032 a0008c0034 a0001c0004 a0001c0032 a0008c0034	a0001c0004t0003 a0001c0032t0003 a0008c0034t0003 a0001c0004t0003 a0001c0032t0003 a0008c0034t0003	a0001c0004t0003g0331 a0001c0004t0003g0333 a0001c0004t0003g0335 others(4): Show a0001c0004t0003g0331 a0001c0004t0003g0333 a0001c0004t0003g0335 a0001c0004t0003g0340 a0001c0004t0003g0342 a0001c0032t0003g0343 a0008c0034t0003g0334	7	374	0.0187	5	c.117 others(24): Show c.1171-1600_1171-1596dupTATTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX3_chr19_15221919_15237448	15225403	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02622.hp1 HG02970.hp1 others(6): Show HG02056.hp2 HG02622.hp1 HG02970.hp1 HG03225.hp1 HG04115.hp1 NA18940.hp2 NA18948.hp1 NA18955.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0109	9	374	0.0241	5	c.20 others(16): Show c.2033_*2034insTTTTT	EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding		1515		chr19	TogoVar
EPHX4_chr1_92024985_92068538	92025279	A A	ATAAAT ATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01069.hp1 others(12): Show HG00099.hp2 HG00140.hp1 HG01069.hp1 HG01081.hp2 HG01169.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp2 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp2 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0001g0171 a0001c0001t0001g0192 others(12): Show a0001c0001t0001g0127 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0124 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204	15	236	0.0636	5	c.-48 others(16): Show c.-4801_-4800insTAAAT	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding		4705		chr1	TogoVar
EPM2A_chr6_145620305_145740520	145626578	C C	CTGGGA CTGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show HG02135.hp2 HG02155.hp1 NA18963.hp2 NA19002.hp2 NA19003.hp1 NA19081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0011 a0002c0004t0005 a0002c0004t0011	a0002c0004t0005g0049 a0002c0004t0005g0051 a0002c0004t0005g0052 others(3): Show a0002c0004t0005g0049 a0002c0004t0005g0051 a0002c0004t0005g0052 a0002c0004t0005g0053 a0002c0004t0005g0054 a0002c0004t0011g0050	6	320	0.0188	5	c.83 others(14): Show c.837_*838insTCCCA	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	4/4	837		chr6	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp2 others(25): Show HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02155.hp1 HG03490.hp2 HG03942.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18972.hp1 NA18990.hp1 NA19005.hp1 NA19010.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0001 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 others(25): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0008g0027 a0001c0001t0008g0064 a0001c0001t0013g0083	28	282	0.0993	5	c.-29 others(24): Show c.-293-5168_-293-5164dupTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01192.hp1 others(5): Show HG00140.hp1 HG01106.hp1 HG01192.hp1 HG01346.hp2 HG02148.hp1 HG02615.hp1 HG03239.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0002g0025 a0001c0001t0002g0036 others(5): Show a0001c0001t0001g0029 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0280 a0001c0001t0005g0056	8	282	0.0284	5	c.766 others(22): Show c.766+3950_766+3954dupTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19290720	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp2 others(98): Show HG00140.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01993.hp1 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18948.hp2 NA18950.hp2 NA18972.hp1 NA18977.hp2 NA18990.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19060.hp2 NA19064.hp1 NA19070.hp1 NA19083.hp2 NA19088.hp2 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0004c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(98): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0004g0102 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0005g0026 a0001c0001t0005g0040 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0011g0003 a0001c0001t0013g0083 a0001c0001t0017g0004 a0004c0003t0001g0111	101	282	0.3582	5	c.766 others(22): Show c.766+4934_766+4935insGAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG01168.hp1 others(9): Show HG00438.hp1 HG00639.hp2 HG01168.hp1 HG01952.hp2 HG02056.hp2 HG02148.hp2 HG02602.hp2 NA18972.hp2 NA18990.hp2 NA19083.hp1 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 others(9): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0279 a0001c0001t0006g0073	12	282	0.0426	5	c.114 others(24): Show c.1147+5284_1147+5288dupAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19326686	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp2 others(165): Show HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19083.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0003c0005 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0004t0001 a0001c0006t0001 a0003c0005t0001 a0004c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(164): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0279 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0280 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0006g0073 a0001c0001t0006g0185 a0001c0001t0006g0235 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0011g0003 a0001c0001t0017g0004 a0001c0001t0018g0176 a0001c0004t0001g0202 a0001c0006t0001g0182 a0003c0005t0001g0245 a0004c0003t0001g0111	168	282	0.5957	5	c.114 others(24): Show c.1148-2009_1148-2005dupAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPO_chr7_100715468_100728700	100725531	A A	ATTTCT ATTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG02451.hp1 others(1): Show HG01081.hp2 HG01169.hp2 HG02451.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0001 a0001c0006t0002g0009 a0001c0001t0001g0001 a0001c0006t0002g0009	4	380	0.0105	5	c.23 others(16): Show c.2398_*2399insTTTCT	EPO	ENSG00000130427.3	transcript	ENST00000252723.3	protein_coding		1832		chr7	TogoVar
EPPIN_chr20_45535626_45552401	45548607	C C	CCTCTT CCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(142): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0004t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0003g0005 a0001c0001t0005g0007 a0001c0001t0011g0018 a0001c0001t0018g0046 a0001c0001t0019g0047 a0001c0004t0001g0021 a0003c0003t0001g0012	145	438	0.3311	5	c.-12 others(16): Show c.-1251_-1250insAAGAG	EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding		1207		chr20	TogoVar
EPRS1_chr1_219963600_220051505	219998547	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp2 HG02723.hp2 others(14): Show HG00544.hp2 HG02155.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp1 HG03704.hp1 HG06807.hp1 NA18943.hp2 NA19043.hp2 NA19068.hp1 NA19086.hp1 NA20300.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0019	a0001c0001 a0003c0005 a0006c0009 others(2): Show a0001c0001 a0003c0005 a0006c0009 a0008c0011 a0019c0014	a0001c0001t0001 a0003c0005t0001 a0006c0009t0001 others(2): Show a0001c0001t0001 a0003c0005t0001 a0006c0009t0001 a0008c0011t0001 a0019c0014t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0003c0005t0001g0015 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0019 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0030 a0006c0009t0001g0014 a0006c0009t0001g0017 a0006c0009t0001g0018 a0008c0011t0001g0002 a0019c0014t0001g0311	17	358	0.0475	5	c.218 others(24): Show c.2182-1210_2182-1206dupAAAAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	17/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220010093	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01192.hp1 others(29): Show HG00738.hp1 HG01074.hp2 HG01192.hp1 HG02056.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18953.hp1 NA18978.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19077.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0025 a0003c0005 a0003c0007 a0003c0008 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0025t0002 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0017c0015t0002	a0001c0001t0001g0279 a0001c0001t0002g0010 a0001c0001t0002g0066 others(27): Show a0001c0001t0001g0279 a0001c0001t0002g0010 a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0321 a0001c0001t0002g0347 a0001c0001t0003g0295 a0001c0002t0001g0084 a0001c0002t0001g0195 a0001c0004t0001g0004 a0001c0004t0001g0033 a0001c0025t0002g0120 a0003c0005t0001g0021 a0003c0007t0001g0061 a0003c0007t0001g0062 a0003c0007t0001g0087 a0003c0007t0001g0119 a0003c0007t0001g0121 a0003c0007t0001g0189 a0003c0008t0001g0005 a0003c0008t0001g0131 a0003c0008t0001g0132 a0017c0015t0002g0243	32	358	0.0894	5	c.160 others(22): Show c.1605+848_1605+852dupTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	13/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220016577	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(115): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18942.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0012 a0014 a0017	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0003c0005 a0003c0007 a0009c0027 a0012c0020 a0014c0017 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0022t0001 a0003c0005t0001 a0003c0007t0001 a0009c0027t0002 a0012c0020t0001 a0014c0017t0001 a0017c0015t0002	a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0293 others(114): Show a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0293 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0191 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0159 a0001c0002t0001g0163 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0006g0172 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0065 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0123 a0001c0022t0001g0174 a0003c0005t0001g0021 a0003c0007t0001g0141 a0009c0027t0002g0351 a0012c0020t0001g0127 a0014c0017t0001g0105 a0017c0015t0002g0243	118	358	0.3296	5	c.149 others(24): Show c.1494+1867_1494+1871dupAAAAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	12/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220027589	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00738.hp2 others(10): Show HG00544.hp1 HG00673.hp2 HG00738.hp2 HG02145.hp1 HG03225.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp2 NA18973.hp2 NA18978.hp1 NA19030.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0003c0007	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0003c0005t0001 a0003c0007t0001	a0001c0001t0002g0012 a0001c0001t0002g0090 a0001c0001t0002g0091 others(10): Show a0001c0001t0002g0012 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0002t0001g0147 a0001c0004t0001g0093 a0003c0005t0001g0021 a0003c0007t0001g0141	13	358	0.0363	5	c.624 others(22): Show c.624-2336_624-2332dupTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	6/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220038390	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01069.hp1 others(96): Show HG00438.hp1 HG00558.hp2 HG01069.hp1 HG01168.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0013 a0015 a0017	a0001c0001 a0001c0002 a0002c0003 others(9): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0003c0007 a0004c0006 a0007c0012 a0009c0027 a0010c0023 a0013c0021 a0015c0016 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0003c0005t0001 a0003c0007t0001 a0004c0006t0001 a0007c0012t0001 a0009c0027t0002 a0010c0023t0002 a0013c0021t0002 a0015c0016t0002 a0017c0015t0002	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0279 others(96): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0002g0047 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0001t0003g0320 a0001c0002t0001g0096 a0001c0002t0001g0232 a0002c0003t0001g0182 a0003c0005t0001g0028 a0003c0007t0001g0306 a0004c0006t0001g0337 a0004c0006t0001g0338 a0004c0006t0001g0339 a0004c0006t0001g0340 a0004c0006t0001g0341 a0004c0006t0001g0342 a0004c0006t0001g0344 a0004c0006t0001g0345 a0004c0006t0001g0346 a0007c0012t0001g0335 a0007c0012t0001g0336 a0009c0027t0002g0351 a0010c0023t0002g0319 a0013c0021t0002g0267 a0015c0016t0002g0235 a0017c0015t0002g0243	99	358	0.2765	5	c.131 others(22): Show c.131+1790_131+1794dupAAAAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	2/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51391455	T T	TAATAA TAATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00738.hp1 others(13): Show HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01192.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02109.hp1 HG02723.hp2 HG02922.hp2 HG02970.hp1 HG06807.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0010 a0002 a0010	a0002c0001 a0002c0004 a0010c0013 a0002c0001 a0002c0004 a0010c0013	a0002c0001t0004 a0002c0001t0008 a0002c0004t0002 others(1): Show a0002c0001t0004 a0002c0001t0008 a0002c0004t0002 a0010c0013t0001	a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(13): Show a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 a0002c0001t0004g0021 a0002c0001t0004g0022 a0002c0001t0004g0023 a0002c0001t0004g0024 a0002c0001t0004g0025 a0002c0001t0004g0124 a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 a0002c0001t0008g0123 a0002c0004t0002g0007 a0002c0004t0002g0008 a0010c0013t0001g0063	16	152	0.1053	5	c.211 others(24): Show c.2119+2921_2119+2925dupTTATT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	21/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51504532	C C	CTAGAA CTAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show HG02109.hp2 HG02717.hp2 HG02818.hp1 HG03209.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0004 a0002c0001t0010 a0002c0007t0010 a0002c0001t0004 a0002c0001t0010 a0002c0007t0010	a0002c0001t0004g0040 a0002c0001t0010g0041 a0002c0001t0010g0042 others(2): Show a0002c0001t0004g0040 a0002c0001t0010g0041 a0002c0001t0010g0042 a0002c0001t0010g0044 a0002c0007t0010g0043	5	152	0.0329	5	c.33+ others(22): Show c.33+14662_33+14666dupTTCTA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508186	G G	GAGAAA GAGAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp2 HG02451.hp1 others(8): Show HG00558.hp1 HG01261.hp2 HG02451.hp1 HG02451.hp2 HG02738.hp1 HG02818.hp2 HG03471.hp1 HG03492.hp1 HG04228.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0002c0001t0005 a0002c0001t0014	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0072 others(8): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0084 a0001c0002t0001g0091 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0020g0050 a0002c0001t0005g0148 a0002c0001t0014g0037	11	152	0.0724	5	c.33+ others(22): Show c.33+11008_33+11012dupTTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar

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