Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EPHX1_chr1_225805124_225850563	225839366	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00558.hp1 others(27): Show HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp2 HG01192.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02622.hp1 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03688.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19074.hp1 NA19084.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0002c0002 a0002c0006 a0002c0009 a0002c0025 a0003c0005 a0003c0007 a0003c0008 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0019t0001 a0002c0002t0001 a0002c0006t0001 a0002c0009t0001 a0002c0025t0001 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0010t0001	a0001c0001t0001g0297 a0001c0001t0001g0320 a0001c0001t0003g0292 others(27): Show a0001c0001t0001g0297 a0001c0001t0001g0320 a0001c0001t0003g0292 a0001c0001t0005g0136 a0001c0003t0001g0184 a0001c0004t0001g0055 a0001c0004t0001g0060 a0001c0004t0001g0063 a0001c0004t0001g0078 a0001c0004t0001g0159 a0001c0019t0001g0074 a0002c0002t0001g0169 a0002c0006t0001g0369 a0002c0009t0001g0160 a0002c0009t0001g0240 a0002c0025t0001g0053 a0003c0005t0001g0125 a0003c0007t0001g0129 a0003c0007t0001g0147 a0003c0007t0001g0188 a0003c0007t0001g0192 a0003c0007t0001g0237 a0003c0007t0001g0302 a0003c0007t0001g0358 a0003c0008t0001g0163 a0003c0008t0001g0177 a0003c0008t0001g0201 a0003c0008t0001g0203 a0004c0010t0001g0258 a0004c0010t0001g0347	30	422	0.0711	8	c.722 others(21): Show c.722+49_722+56dupGTGTGTGT	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX2_chr8_27486143_27550564	27487397	T T	TCTCTTCT others(1): Show TCTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG06807.hp1 others(1): Show HG02647.hp2 HG02809.hp2 HG06807.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0007 a0001c0005 a0003c0007	a0001c0005t0002 a0001c0005t0003 a0003c0007t0004 a0001c0005t0002 a0001c0005t0003 a0003c0007t0004	a0001c0005t0002g0077 a0001c0005t0003g0084 a0001c0005t0003g0085 others(1): Show a0001c0005t0002g0077 a0001c0005t0003g0084 a0001c0005t0003g0085 a0003c0007t0004g0314	4	374	0.0107	8	c.-38 others(19): Show c.-3812_-3811insCTCTTCTC	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding		3745		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27525107	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp2 NA19240.hp2 HG01192.hp1 HG03098.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0003 a0001c0014 a0002c0003	a0001c0014t0003 a0002c0003t0003 a0001c0014t0003 a0002c0003t0003	a0001c0014t0003g0345 a0002c0003t0003g0032 a0002c0003t0003g0217 a0001c0014t0003g0345 a0002c0003t0003g0032 a0002c0003t0003g0217	3	374	0.0080	8	c.105 others(25): Show c.1059-254_1059-253insTGTGTGCG	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX3_chr19_15221919_15237448	15223241	A A	ATGAGTGA others(1): Show ATGAGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00609.hp1 others(12): Show HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01934.hp2 HG02083.hp2 HG02129.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG03098.hp2 HG03195.hp1 HG03942.hp1 NA18953.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0134	15	374	0.0401	8	c.41 others(19): Show c.4195_*4196insCTCACTCA	EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding		3677		chr19	TogoVar
EPHX4_chr1_92024985_92068538	92030457	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00738.hp2 others(28): Show HG00140.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02165.hp1 HG02165.hp2 HG02965.hp1 HG02976.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 NA18941.hp1 NA18942.hp2 NA18977.hp2 NA18986.hp1 NA19000.hp1 NA19006.hp1 NA19006.hp2 NA19066.hp1 NA19068.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0061 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0003g0105	31	236	0.1314	8	c.231 others(23): Show c.231+169_231+176dupTGTGTGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPM2A_chr6_145620305_145740520	145631848	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG01884.hp1 others(9): Show HG01081.hp2 HG01123.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02630.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0012 a0001c0001t0003 a0001c0002t0012	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(6): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0002t0012g0061	12	320	0.0375	8	c.718 others(25): Show c.718+3389_718+3396dupGAGAGAGA	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	3/3			chr6	TogoVar
EPM2A_chr6_145620305_145740520	145683268	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01169.hp1 others(20): Show HG01069.hp1 HG01099.hp2 HG01169.hp1 HG01257.hp2 HG01978.hp2 HG02055.hp2 HG02165.hp1 HG02273.hp1 HG02486.hp1 HG02683.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA18943.hp2 NA18953.hp2 NA19001.hp1 NA19043.hp1 NA19066.hp1 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0205 others(19): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0007g0183 a0001c0003t0001g0222 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0254	23	320	0.0719	8	c.476 others(25): Show c.476+2846_476+2853dupACACACAC	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3			chr6	TogoVar
EPM2A_chr6_145620305_145740520	145732201	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show HG01891.hp1 HG02723.hp1 HG02818.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 others(2): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0002t0002g0149	5	320	0.0156	8	c.301 others(25): Show c.301+2989_301+2996dupCACACACA	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3			chr6	TogoVar
EPM2A_chr6_145620305_145740520	145732236	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(38): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00735.hp1 HG01099.hp2 HG01361.hp2 HG01891.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02630.hp2 HG03130.hp2 HG03471.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19076.hp1 NA19082.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0012 a0001c0001 a0001c0003 a0008c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0008c0012t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0154 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0186 a0001c0001t0010g0178 a0001c0001t0010g0180 a0001c0003t0001g0276 a0008c0012t0001g0296	41	320	0.1281	8	c.301 others(25): Show c.301+2961_301+2962insGCACACAC	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3			chr6	TogoVar
EPN2_chr17_19232366_19341715	19255436	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01934.hp2 others(4): Show HG01515.hp1 HG01517.hp1 HG01934.hp2 HG02602.hp1 HG02622.hp2 HG03540.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0033 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0017g0004 a0002c0002t0001g0124	7	282	0.0248	8	c.-29 others(29): Show c.-294+17945_-294+17952dupATTTATTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp1 HG03041.hp1 others(4): Show HG01192.hp2 HG02630.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 others(4): Show a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098	7	282	0.0248	8	c.766 others(25): Show c.766+3947_766+3954dupTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19295364	A A	ACGCGCGC others(1): Show ACGCGCGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp2 HG03486.hp1 HG01243.hp2 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207	3	282	0.0106	8	c.766 others(25): Show c.766+9575_766+9576insGCGCGCGC	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19295366	A A	ACACGCGC others(1): Show ACACGCGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01168.hp2 others(7): Show HG00140.hp2 HG01106.hp1 HG01168.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01517.hp1 HG02148.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0213 a0001c0001t0002g0031 a0001c0001t0002g0034 others(7): Show a0001c0001t0001g0213 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0055 a0001c0001t0005g0056	10	282	0.0355	8	c.766 others(25): Show c.766+9577_766+9578insACGCGCGC	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19295366	A A	ACGCGCGC others(1): Show ACGCGCGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp2 HG04199.hp2 HG02257.hp2 HG02895.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0010g0043 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0010g0043	3	282	0.0106	8	c.766 others(25): Show c.766+9582_766+9583insCGCGCGCG	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19309004	C C	CTGCATGT others(1): Show CTGCATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(247): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 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.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.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 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0003c0005 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0004t0001 a0001c0006t0001 a0003c0005t0001 a0004c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(246): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 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 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 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 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0280 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0005g0026 a0001c0001t0005g0040 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0006g0073 a0001c0001t0006g0183 a0001c0001t0006g0185 a0001c0001t0006g0216 a0001c0001t0006g0235 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0008g0027 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0010g0042 a0001c0001t0011g0003 a0001c0001t0013g0083 a0001c0001t0015g0186 a0001c0001t0017g0004 a0001c0001t0018g0176 a0001c0004t0001g0202 a0001c0006t0001g0182 a0003c0005t0001g0245 a0004c0003t0001g0111	250	282	0.8865	8	c.767 others(23): Show c.767-876_767-875insGTGTGCAT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN3_chr17_50527735_50548750	50544882	G G	GTCTTTCT others(1): Show GTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02976.hp2 HG02572.hp1 HG02630.hp1 HG02976.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0038 a0005c0006t0010g0101 a0005c0006t0010g0038 a0005c0006t0010g0101	3	350	0.0086	8	c.27 others(19): Show c.2725_*2726insTCTTTCTT	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding		1133		chr17	TogoVar
EPOP_chr17_38666703_38679957	38676561	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00597.hp2 others(18): Show HG00423.hp2 HG00597.hp1 HG00597.hp2 HG01081.hp1 HG01168.hp1 HG01433.hp1 HG01891.hp1 HG02040.hp2 HG02074.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG04115.hp2 HG04199.hp2 NA18968.hp2 NA19003.hp2 NA19057.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0004c0004 a0010c0007	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0010c0007t0001	a0001c0001t0001g0000 a0001c0009t0001g0000 a0002c0002t0001g0000 others(5): Show a0001c0001t0001g0000 a0001c0009t0001g0000 a0002c0002t0001g0000 a0002c0002t0004g0000 a0003c0003t0001g0000 a0003c0003t0002g0000 a0004c0004t0001g0000 a0010c0007t0001g0000	21	351	0.0598	8	c.-20 others(19): Show c.-2067_-2066insGTGTGTGT	EPOP	ENSG00000273604.2	transcript	ENST00000621654.2	protein_coding		1605		chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TTCTCTCT others(1): Show TTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02818.hp2 HG03491.hp1 others(2): Show HG01175.hp2 HG02818.hp2 HG03491.hp1 NA18969.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0065	5	404	0.0124	8	c.-46 others(17): Show c.-468_-461dupGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384705	T T	TTTCCTTC others(1): Show TTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(54): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00733.hp1 HG00733.hp2 HG01192.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02148.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18955.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA19000.hp1 NA19004.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0002g0013 a0001c0001t0003g0023 a0001c0005t0001g0027	57	404	0.1411	8	c.-50 others(17): Show c.-506_-499dupGGAAGGAA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		392		chr19	TogoVar
EPRS1_chr1_219963600_220051505	219986783	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(89): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp2 NA18970.hp2 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18994.hp1 NA19001.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19063.hp2 NA19074.hp1 NA19085.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0008 a0014 a0018	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0025 a0003c0005 a0003c0007 a0003c0008 a0006c0009 a0008c0011 a0014c0017 a0018c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0025t0002 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0008c0011t0001 a0014c0017t0001 a0018c0026t0002	a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0199 others(85): Show a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0191 a0001c0002t0001g0003 a0001c0002t0001g0049 a0001c0002t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0103 a0001c0002t0001g0150 a0001c0002t0001g0190 a0001c0004t0001g0004 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0037 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0065 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0123 a0001c0004t0001g0130 a0001c0025t0002g0120 a0003c0005t0001g0021 a0003c0007t0001g0061 a0003c0007t0001g0062 a0003c0007t0001g0087 a0003c0007t0001g0119 a0003c0007t0001g0121 a0003c0007t0001g0122 a0003c0007t0001g0141 a0003c0007t0001g0189 a0003c0008t0001g0005 a0003c0008t0001g0131 a0003c0008t0001g0132 a0006c0009t0001g0017 a0008c0011t0001g0002 a0014c0017t0001g0105 a0018c0026t0002g0086	92	358	0.2570	8	c.303 others(25): Show c.3038+351_3038+358dupCACACACA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	20/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220015291	T T	TGCCTCTA others(1): Show TGCCTCTAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(124): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01069.hp1 HG01109.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0008 a0009 a0010 a0013 a0015 a0017 a0019	a0001c0001 a0001c0018 a0003c0005 others(9): Show a0001c0001 a0001c0018 a0003c0005 a0003c0007 a0006c0009 a0008c0011 a0009c0027 a0010c0023 a0013c0021 a0015c0016 a0017c0015 a0019c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0018t0002 a0003c0005t0001 a0003c0007t0001 a0006c0009t0001 a0008c0011t0001 a0009c0027t0002 a0010c0023t0002 a0013c0021t0002 a0015c0016t0002 a0017c0015t0002 a0019c0014t0001	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 others(123): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 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 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0001t0003g0320 a0001c0018t0002g0020 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0019 a0003c0005t0001g0021 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0007t0001g0306 a0006c0009t0001g0014 a0006c0009t0001g0017 a0006c0009t0001g0018 a0008c0011t0001g0002 a0009c0027t0002g0351 a0010c0023t0002g0319 a0013c0021t0002g0267 a0015c0016t0002g0235 a0017c0015t0002g0243 a0019c0014t0001g0311	127	358	0.3548	8	c.149 others(27): Show c.1494+3150_1494+3157dupGTAGAGGC	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	12/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220020824	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG01516.hp1 others(2): Show HG00323.hp1 HG01167.hp2 HG01516.hp1 HG02109.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0200 a0002c0003t0001g0203 a0002c0003t0001g0204 others(2): Show a0001c0001t0001g0200 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0209 a0002c0003t0001g0225	5	358	0.0140	8	c.111 others(25): Show c.1116-611_1116-604dupTATATATA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31			chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16369676	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02155.hp1 others(7): Show HG01109.hp2 HG02109.hp1 HG02155.hp1 HG02647.hp2 HG02683.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0098 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0005g0113	10	276	0.0362	8	c.238 others(27): Show c.2380+7438_2380+7445dupACACACAC	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	22/23			chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16417471	G G	GCAAATAC others(1): Show GCAAATACC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03516.hp1 HG03579.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0230	19	276	0.0688	8	c.119 others(23): Show c.1193+80_1193+81insGGTATTTG	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	12/23			chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16433962	C C	CATAAATA others(1): Show CATAAATAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG03704.hp2 others(2): Show HG02965.hp2 HG03098.hp1 HG03704.hp2 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0118 a0001c0001t0001g0169	5	276	0.0181	8	c.498 others(23): Show c.498+395_498+402dupTTATTTAT	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	7/23			chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16472433	T T	TGTGTGTG others(1): Show TGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03710.hp1 NA19240.hp1 HG02809.hp1 HG03710.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0001 a0001c0001t0001g0245 a0001c0001t0001g0250	3	276	0.0109	8	c.-48 others(17): Show c.-489_-488insGCACACAC	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding		464		chr19	TogoVar
EPS15_chr1_51349263_51524266	51426817	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA20129.hp2 HG01257.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0007g0134 a0002c0001t0007g0135	2	152	0.0132	8	c.104 others(27): Show c.1041-4967_1041-4960dupGAGAGAGA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51432298	T T	TTATGTAT others(1): Show TTATGTATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1 HG00642.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0004 a0002c0001t0007 a0001c0002t0001 a0002c0001t0004 a0002c0001t0007	a0001c0002t0001g0073 a0002c0001t0004g0023 a0002c0001t0007g0133 a0001c0002t0001g0073 a0002c0001t0004g0023 a0002c0001t0007g0133	3	152	0.0197	8	c.104 others(27): Show c.1040+8041_1040+8048dupCATACATA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51489286	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show HG00738.hp1 HG01516.hp1 HG01517.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 a0002c0001t0008g0123	4	152	0.0263	8	c.34- others(23): Show c.34-7980_34-7973dupATATATAT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508240	A A	AAAGAAAA others(1): Show AAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02970.hp1 HG01175.hp2 HG02970.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0013 a0001c0002 a0010c0013	a0001c0002t0001 a0010c0013t0001 a0001c0002t0001 a0010c0013t0001	a0001c0002t0001g0064 a0010c0013t0001g0063 a0001c0002t0001g0064 a0010c0013t0001g0063	2	152	0.0132	8	c.33+ others(25): Show c.33+10958_33+10959insCTTTTCTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508266	G G	GAGAGAGA others(1): Show GAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20752.hp1 HG00639.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0088 a0001c0002t0001g0080 a0001c0002t0001g0088	2	152	0.0132	8	c.33+ others(25): Show c.33+10925_33+10932dupTTCTCTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508338	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02738.hp1 HG03491.hp1 others(4): Show HG00733.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG04204.hp1 HG04228.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0020 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0020 a0001c0003t0001 a0002c0001t0004 a0002c0001t0009	a0001c0002t0001g0091 a0001c0002t0001g0114 a0001c0002t0020g0050 others(4): Show a0001c0002t0001g0091 a0001c0002t0001g0114 a0001c0002t0020g0050 a0001c0003t0001g0102 a0002c0001t0004g0038 a0002c0001t0009g0118 a0002c0001t0009g0119	7	152	0.0461	8	c.33+ others(25): Show c.33+10853_33+10860dupTTCTTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51519405	T T	TGCCCGCC others(1): Show TGCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00738.hp2 others(22): Show HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp2 HG02145.hp2 HG02258.hp1 HG02615.hp2 HG02735.hp1 HG03453.hp1 HG03540.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0003 a0001c0006t0001 a0001c0003t0001 a0001c0003t0003 a0001c0006t0001	a0001c0003t0001g0053 a0001c0003t0001g0066 a0001c0003t0001g0067 others(22): Show a0001c0003t0001g0053 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0081 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0003g0054 a0001c0006t0001g0104 a0001c0006t0001g0112	25	152	0.1645	8	c.-17 others(17): Show c.-175_-174insGGGCGGGC	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding		140		chr1	TogoVar
EPS8_chr12_15615134_15794388	15643740	G G	GAAAAAAA others(1): Show GAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG03041.hp2 others(1): Show HG02258.hp1 HG02630.hp2 HG03041.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0004 a0001c0001 a0001c0010 a0002c0004	a0001c0001t0002 a0001c0010t0004 a0002c0004t0001 a0001c0001t0002 a0001c0010t0004 a0002c0004t0001	a0001c0001t0002g0026 a0001c0010t0004g0007 a0002c0004t0001g0062 others(1): Show a0001c0001t0002g0026 a0001c0010t0004g0007 a0002c0004t0001g0062 a0002c0004t0001g0079	4	102	0.0392	8	c.156 others(27): Show c.1569-1918_1569-1911dupTTTTTTTT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	15/20			chr12	TogoVar
EPS8_chr12_15615134_15794388	15663938	A A	AATAATAA others(1): Show AATAATAAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01891.hp2 HG02145.hp2 others(2): Show HG01256.hp2 HG01891.hp2 HG02145.hp2 HG02965.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0036 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0045	5	102	0.0490	8	c.736 others(25): Show c.736+1817_736+1818insATTATTAT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	8/20			chr12	TogoVar
EPS8_chr12_15615134_15794388	15780481	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02622.hp2 HG03017.hp1 others(4): Show HG02300.hp1 HG02622.hp2 HG03017.hp1 HG03130.hp2 HG03579.hp2 HG03831.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0004 a0001c0009t0001 a0001c0001t0001 a0001c0003t0004 a0001c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0086 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0009t0001g0088	7	102	0.0686	8	c.-22 others(25): Show c.-22+8672_-22+8679dupGTGTGTGT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	1/20			chr12	TogoVar
EPSTI1_chr13_42881388_42997241	42881607	C C	CTCTCTCT others(1): Show CTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01106.hp1 others(11): Show HG00280.hp2 HG01074.hp2 HG01106.hp1 HG01261.hp2 HG01346.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02293.hp1 HG02602.hp1 HG03688.hp1 NA18966.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 others(2): Show a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0058 a0001c0003t0038	a0001c0001t0012g0249 a0001c0001t0017g0067 a0001c0001t0017g0113 others(11): Show a0001c0001t0012g0249 a0001c0001t0017g0067 a0001c0001t0017g0113 a0001c0001t0017g0120 a0001c0001t0017g0126 a0001c0001t0017g0159 a0001c0001t0017g0166 a0001c0001t0017g0174 a0001c0001t0024g0183 a0001c0001t0024g0209 a0001c0001t0024g0321 a0001c0001t0024g0339 a0001c0001t0058g0204 a0001c0003t0038g0172	14	352	0.0398	8	c.68 others(19): Show c.6886_*6887insCAGAGAGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		4780		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42881607	C C	CTCTCTGT others(1): Show CTCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02004.hp2 HG02129.hp2 others(10): Show HG01255.hp2 HG02004.hp2 HG02129.hp2 HG02148.hp2 HG02293.hp2 HG02965.hp2 HG03239.hp1 HG03942.hp1 NA18990.hp1 NA18990.hp2 NA19030.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 others(2): Show a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0027	a0001c0001t0026g0116 a0001c0001t0028g0197 a0001c0002t0001g0002 others(10): Show a0001c0001t0026g0116 a0001c0001t0028g0197 a0001c0002t0001g0002 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0042 a0001c0002t0001g0115 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0003g0238 a0001c0002t0003g0301 a0001c0002t0003g0314 a0001c0002t0027g0137	13	352	0.0369	8	c.68 others(19): Show c.6886_*6887insCACAGAGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		4780		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42881607	C C	CTCTGTGT others(1): Show CTCTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 NA18944.hp2 NA19064.hp2 others(2): Show HG03831.hp2 NA18944.hp2 NA19064.hp2 NA19066.hp2 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0014 a0005c0009t0041 a0001c0001t0014 a0005c0009t0041	a0001c0001t0014g0259 a0001c0001t0014g0273 a0001c0001t0014g0274 others(2): Show a0001c0001t0014g0259 a0001c0001t0014g0273 a0001c0001t0014g0274 a0001c0001t0014g0343 a0005c0009t0041g0105	5	352	0.0142	8	c.68 others(19): Show c.6886_*6887insCACACAGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		4780		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42882910	A A	ACTCTCTC others(1): Show ACTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00642.hp2 others(43): Show HG00408.hp1 HG00408.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02132.hp1 HG02293.hp2 HG02486.hp1 HG02965.hp2 HG03239.hp1 HG03669.hp2 HG03942.hp1 HG04199.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp2 NA18962.hp1 NA18966.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19077.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0015 a0001c0001t0026 others(9): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0026 a0001c0002t0027 a0001c0002t0036 a0001c0002t0052 a0001c0002t0053 a0001c0003t0003	a0001c0001t0004g0068 a0001c0001t0004g0087 a0001c0001t0004g0163 others(43): Show a0001c0001t0004g0068 a0001c0001t0004g0087 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0015g0194 a0001c0001t0015g0226 a0001c0001t0015g0303 a0001c0001t0026g0116 a0001c0001t0028g0197 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0122 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0206 a0001c0002t0003g0212 a0001c0002t0003g0231 a0001c0002t0003g0239 a0001c0002t0003g0272 a0001c0002t0003g0277 a0001c0002t0003g0280 a0001c0002t0003g0289 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0026g0076 a0001c0002t0027g0063 a0001c0002t0036g0141 a0001c0002t0052g0222 a0001c0002t0053g0208 a0001c0003t0003g0189 a0001c0003t0003g0192	46	352	0.1307	8	c.55 others(19): Show c.5583_*5584insAGAGAGAG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		3477		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42882939	C C	CTCTCTCT others(1): Show CTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG01433.hp1 others(23): Show HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03688.hp2 HG06807.hp2 NA18906.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0004 a0004c0012 a0004c0013	a0001c0001t0006 a0001c0001t0044 a0001c0002t0006 others(8): Show a0001c0001t0006 a0001c0001t0044 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0003t0011 a0001c0007t0006 a0003c0004t0006 a0003c0004t0011 a0004c0012t0006 a0004c0013t0006	a0001c0001t0006g0296 a0001c0001t0006g0306 a0001c0001t0044g0066 others(23): Show a0001c0001t0006g0296 a0001c0001t0006g0306 a0001c0001t0044g0066 a0001c0002t0006g0188 a0001c0002t0006g0247 a0001c0002t0006g0253 a0001c0002t0006g0257 a0001c0002t0006g0307 a0001c0002t0006g0311 a0001c0002t0006g0313 a0001c0002t0006g0319 a0001c0002t0006g0326 a0001c0002t0008g0161 a0001c0002t0008g0177 a0001c0002t0011g0009 a0001c0002t0011g0015 a0001c0002t0011g0022 a0001c0002t0011g0071 a0001c0003t0011g0083 a0001c0007t0006g0264 a0003c0004t0006g0241 a0003c0004t0006g0333 a0003c0004t0006g0335 a0003c0004t0011g0051 a0004c0012t0006g0302 a0004c0013t0006g0198	26	352	0.0739	8	c.55 others(19): Show c.5554_*5555insCAGAGAGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		3448		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42911264	T T	TGTGTGCG others(1): Show TGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(89): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02922.hp1 HG03017.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19058.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0020 a0001c0002t0025 a0001c0002t0047 a0001c0002t0048 a0001c0007t0006	a0001c0001t0001g0026 a0001c0001t0002g0196 a0001c0001t0002g0245 others(88): Show a0001c0001t0001g0026 a0001c0001t0002g0196 a0001c0001t0002g0245 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0299 a0001c0001t0002g0315 a0001c0001t0002g0320 a0001c0001t0002g0345 a0001c0001t0004g0086 a0001c0001t0004g0132 a0001c0001t0008g0012 a0001c0001t0008g0123 a0001c0001t0012g0254 a0001c0001t0012g0336 a0001c0001t0013g0025 a0001c0001t0013g0106 a0001c0001t0013g0110 a0001c0001t0013g0118 a0001c0001t0013g0125 a0001c0001t0013g0131 a0001c0001t0013g0135 a0001c0001t0013g0140 a0001c0001t0014g0298 a0001c0001t0015g0240 a0001c0001t0015g0304 a0001c0001t0018g0052 a0001c0001t0019g0309 a0001c0001t0019g0325 a0001c0001t0020g0065 a0001c0001t0020g0077 a0001c0001t0020g0154 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0021g0170 a0001c0001t0055g0221 a0001c0001t0058g0204 a0001c0002t0001g0033 a0001c0002t0001g0055 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0158 a0001c0002t0001g0180 a0001c0002t0003g0190 a0001c0002t0003g0275 a0001c0002t0003g0314 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0003g0338 a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0035 a0001c0002t0005g0038 a0001c0002t0005g0061 a0001c0002t0005g0064 a0001c0002t0005g0072 a0001c0002t0005g0127 a0001c0002t0005g0128 a0001c0002t0005g0134 a0001c0002t0005g0149 a0001c0002t0005g0179 a0001c0002t0005g0181 a0001c0002t0006g0307 a0001c0002t0006g0313 a0001c0002t0006g0326 a0001c0002t0007g0001 a0001c0002t0007g0267 a0001c0002t0007g0276 a0001c0002t0009g0045 a0001c0002t0009g0099 a0001c0002t0009g0109 a0001c0002t0009g0119 a0001c0002t0010g0210 a0001c0002t0010g0261 a0001c0002t0010g0268 a0001c0002t0010g0318 a0001c0002t0010g0331 a0001c0002t0010g0341 a0001c0002t0011g0009 a0001c0002t0011g0015 a0001c0002t0020g0150 a0001c0002t0025g0230 a0001c0002t0047g0251 a0001c0002t0048g0233 a0001c0007t0006g0262	92	352	0.2614	8	c.741 others(25): Show c.741+6276_741+6277insGCGCACAC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	8/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926026	T T	TGGAAGGA others(1): Show TGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02630.hp2 HG02647.hp2 others(4): Show HG01361.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG03195.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0002c0008	a0001c0001t0035 a0001c0002t0010 a0002c0006t0007 others(4): Show a0001c0001t0035 a0001c0002t0010 a0002c0006t0007 a0002c0006t0012 a0002c0006t0019 a0002c0008t0002 a0002c0008t0054	a0001c0001t0035g0098 a0001c0002t0010g0227 a0002c0006t0007g0201 others(4): Show a0001c0001t0035g0098 a0001c0002t0010g0227 a0002c0006t0007g0201 a0002c0006t0012g0199 a0002c0006t0019g0200 a0002c0008t0002g0216 a0002c0008t0054g0317	7	352	0.0199	8	c.657 others(23): Show c.657+302_657+309dupTTCCTTCC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926990	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01074.hp2 others(33): Show HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01255.hp2 HG01358.hp1 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02486.hp1 HG02523.hp2 HG03017.hp1 HG03669.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18956.hp1 NA18960.hp2 NA18970.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19075.hp1 NA19080.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0033 a0001c0001t0055 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0002t0025 a0001c0002t0052 a0001c0002t0053 a0001c0003t0003	a0001c0001t0002g0284 a0001c0001t0004g0124 a0001c0001t0004g0132 others(33): Show a0001c0001t0002g0284 a0001c0001t0004g0124 a0001c0001t0004g0132 a0001c0001t0008g0123 a0001c0001t0012g0337 a0001c0001t0013g0118 a0001c0001t0013g0125 a0001c0001t0013g0131 a0001c0001t0015g0194 a0001c0001t0017g0120 a0001c0001t0026g0116 a0001c0001t0033g0101 a0001c0001t0055g0221 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0049 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0003g0238 a0001c0002t0003g0272 a0001c0002t0003g0289 a0001c0002t0003g0295 a0001c0002t0005g0102 a0001c0002t0007g0236 a0001c0002t0008g0161 a0001c0002t0009g0119 a0001c0002t0009g0121 a0001c0002t0010g0341 a0001c0002t0023g0034 a0001c0002t0023g0139 a0001c0002t0025g0285 a0001c0002t0052g0222 a0001c0002t0053g0208 a0001c0003t0003g0189 a0001c0003t0003g0192	36	352	0.1023	8	c.564 others(23): Show c.564-569_564-562dupGTGTGTGT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp2 HG02280.hp1 others(12): Show HG00597.hp1 HG02165.hp2 HG02280.hp1 HG02965.hp1 HG03098.hp1 HG03471.hp1 HG03491.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18990.hp1 NA19030.hp1 NA19068.hp2 NA19082.hp2 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0014 a0001c0001 a0001c0002 a0006c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0032 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0037 a0006c0014t0002	a0001c0001t0002g0219 a0001c0001t0004g0056 a0001c0001t0004g0091 others(12): Show a0001c0001t0002g0219 a0001c0001t0004g0056 a0001c0001t0004g0091 a0001c0001t0012g0308 a0001c0001t0014g0259 a0001c0001t0016g0215 a0001c0001t0020g0065 a0001c0001t0032g0014 a0001c0002t0003g0238 a0001c0002t0003g0269 a0001c0002t0006g0247 a0001c0002t0007g0350 a0001c0002t0010g0268 a0001c0002t0037g0092 a0006c0014t0002g0243	15	352	0.0426	8	c.564 others(27): Show c.564-12493_564-12486dupTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42955877	T T	TTGGCGGG others(1): Show TTGGCGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02818.hp2 others(2): Show HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0007 a0002c0006t0012 a0002c0006t0019 others(2): Show a0002c0006t0007 a0002c0006t0012 a0002c0006t0019 a0002c0008t0002 a0002c0008t0054	a0002c0006t0007g0201 a0002c0006t0012g0199 a0002c0006t0019g0200 others(2): Show a0002c0006t0007g0201 a0002c0006t0012g0199 a0002c0006t0019g0200 a0002c0008t0002g0216 a0002c0008t0054g0317	5	352	0.0142	8	c.490 others(25): Show c.490-1857_490-1856insCCCCGCCA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	5/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42989567	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02129.hp2 others(7): Show HG00741.hp2 HG02055.hp1 HG02129.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02965.hp2 NA18954.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0028 a0001c0001t0057 a0001c0002t0010 a0001c0002t0027 a0001c0003t0003	a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0202 others(7): Show a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0004g0136 a0001c0001t0015g0194 a0001c0001t0028g0197 a0001c0001t0057g0195 a0001c0002t0010g0193 a0001c0002t0027g0137 a0001c0003t0003g0192	10	352	0.0284	8	c.188 others(25): Show c.188+2403_188+2410dupAAAAAAAA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	1/10			chr13	TogoVar
EPX_chr17_58187726_58210174	58189197	G G	GTGTGTAT others(1): Show GTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02559.hp1 others(5): Show HG01884.hp1 HG02486.hp1 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0003 a0002c0005 a0004c0003	a0002c0005t0002 a0004c0003t0001 a0002c0005t0002 a0004c0003t0001	a0002c0005t0002g0053 a0002c0005t0002g0054 a0004c0003t0001g0011 others(2): Show a0002c0005t0002g0053 a0002c0005t0002g0054 a0004c0003t0001g0011 a0004c0003t0001g0028 a0004c0003t0001g0123	8	404	0.0198	8	c.-36 others(19): Show c.-3650_-3649insTGTGTATA	EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding		3528		chr17	TogoVar
EPX_chr17_58187726_58210174	58189197	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG03225.hp1 others(1): Show HG02809.hp1 HG02818.hp2 HG03225.hp1 NA19240.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0003c0014 a0004c0003 a0003c0004 a0003c0014 a0004c0003	a0003c0004t0002 a0003c0014t0002 a0004c0003t0001 a0003c0004t0002 a0003c0014t0002 a0004c0003t0001	a0003c0004t0002g0046 a0003c0004t0002g0050 a0003c0014t0002g0049 others(1): Show a0003c0004t0002g0046 a0003c0004t0002g0050 a0003c0014t0002g0049 a0004c0003t0001g0012	4	404	0.0099	8	c.-36 others(19): Show c.-3650_-3649insTGTGTGTA	EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding		3528		chr17	TogoVar
EPYC_chr12_90958682_91009972	90971672	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp2 HG01081.hp1 others(74): Show HG00609.hp2 HG00741.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG04184.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp2 NA18954.hp1 NA18957.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19030.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19081.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0007t0001 a0007c0008t0002	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0028 others(62): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0005t0001g0150 a0001c0007t0001g0190 a0007c0008t0002g0222	77	346	0.2225	8	c.702 others(23): Show c.702+120_702+127dupTATTTATT	EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	5/6			chr12	TogoVar

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