Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
EPHB1_chr3_134790260_135265467	134959966	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03017.hp1 HG04199.hp1 HG02602.hp1 HG03017.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002	a0001c0002t0002g0011 a0001c0004t0001g0010 a0001c0004t0002g0037 a0001c0002t0002g0011 a0001c0004t0001g0010 a0001c0004t0002g0037	3	134	0.0224	-13	c.805 others(30): Show c.805+7944_805+7956delTTTTTTTTTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135114537	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG03471.hp2 others(2): Show HG02809.hp2 HG03098.hp2 HG03471.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0002 a0001c0003t0004 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0009 a0001c0010t0008	a0001c0001t0002g0079 a0001c0003t0004g0119 a0001c0004t0002g0127 others(2): Show a0001c0001t0002g0079 a0001c0003t0004g0119 a0001c0004t0002g0127 a0001c0004t0009g0023 a0001c0010t0008g0104	5	134	0.0373	-13	c.961 others(30): Show c.961+7951_961+7963delAAAAAAAAAAAAA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135132310	CTTCTACC others(6): Show CTTCTACCCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01167.hp2 others(9): Show HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 others(1): Show a0001c0005 a0001c0006 a0001c0007 a0001c0013	a0001c0005t0001 a0001c0005t0003 a0001c0005t0013 others(8): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0013 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0006t0026 a0001c0007t0003 a0001c0007t0007 a0001c0007t0009 a0001c0013t0001	a0001c0005t0001g0025 a0001c0005t0003g0131 a0001c0005t0013g0129 others(9): Show a0001c0005t0001g0025 a0001c0005t0003g0131 a0001c0005t0013g0129 a0001c0005t0013g0130 a0001c0006t0001g0086 a0001c0006t0012g0085 a0001c0006t0022g0019 a0001c0006t0026g0117 a0001c0007t0003g0068 a0001c0007t0007g0043 a0001c0007t0009g0028 a0001c0013t0001g0007	12	134	0.0896	-13	c.962 others(28): Show c.962-397_962-385delCCTTGAGTTCTAC	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183021	TTTTCTTT others(6): Show TTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0098 a0001c0002t0011g0098	1	134	0.0075	-13	c.188 others(32): Show c.1882+3047_1882+3059delTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135245524	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01169.hp1 HG00639.hp1 HG00733.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0002t0011 a0001c0003t0011 a0001c0002t0006 a0001c0002t0011 a0001c0003t0011	a0001c0002t0006g0072 a0001c0002t0011g0098 a0001c0003t0011g0100 a0001c0002t0006g0072 a0001c0002t0011g0098 a0001c0003t0011g0100	3	134	0.0224	-13	c.249 others(32): Show c.2497-2791_2497-2779delAAAAAAAAAAAAT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	13/15			chr3	TogoVar
EPHB2_chr1_22705839_22926500	22735183	GGGAGGGT others(6): Show GGGAGGGTGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0214 a0001c0002t0009g0214	1	248	0.0040	-13	c.61+ others(30): Show c.61+24159_61+24171delGTGAGGCAGGAGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22864034	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00544.hp2 others(98): Show HG00140.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp1 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18964.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19010.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0042 a0001c0003t0040 a0001c0003t0041 a0001c0005t0001 a0001c0007t0036 a0001c0012t0028 a0001c0013t0024 a0001c0017t0002	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0031 others(98): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0211 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0245 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0081 a0001c0001t0003g0094 a0001c0001t0003g0195 a0001c0001t0004g0071 a0001c0001t0004g0109 a0001c0001t0004g0190 a0001c0001t0004g0210 a0001c0001t0005g0226 a0001c0001t0005g0237 a0001c0001t0006g0235 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0157 a0001c0001t0010g0020 a0001c0001t0010g0121 a0001c0001t0010g0186 a0001c0001t0010g0205 a0001c0001t0010g0209 a0001c0001t0012g0037 a0001c0001t0012g0145 a0001c0001t0012g0212 a0001c0001t0015g0084 a0001c0001t0015g0112 a0001c0001t0015g0220 a0001c0001t0016g0012 a0001c0001t0016g0069 a0001c0001t0016g0132 a0001c0001t0017g0039 a0001c0001t0018g0153 a0001c0001t0019g0184 a0001c0001t0019g0221 a0001c0001t0023g0155 a0001c0001t0027g0229 a0001c0001t0032g0218 a0001c0001t0033g0177 a0001c0001t0034g0206 a0001c0001t0043g0115 a0001c0001t0044g0141 a0001c0001t0054g0053 a0001c0001t0055g0108 a0001c0002t0001g0046 a0001c0002t0002g0074 a0001c0002t0042g0140 a0001c0003t0040g0050 a0001c0003t0041g0215 a0001c0005t0001g0091 a0001c0007t0036g0137 a0001c0012t0028g0013 a0001c0013t0024g0092 a0001c0017t0002g0204	101	248	0.4073	-13	c.968 others(28): Show c.968-831_968-819delTTTTTTTTTTTTT	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22925045	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG03688.hp1 NA18964.hp2 others(1): Show HG01952.hp1 HG03688.hp1 NA18964.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0008g0157 a0001c0002t0001g0156 others(1): Show a0001c0001t0001g0006 a0001c0001t0008g0157 a0001c0002t0001g0156 a0001c0002t0001g0172	4	248	0.0161	-13	c.11 others(26): Show c.11476_*11488delAAAAAAAAAAAAA	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding		3546		chr1	TogoVar
EPHB4_chr7_100797565_100832523	100801789	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(43): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01934.hp1 HG02071.hp2 HG02080.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp1 HG03491.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0020 a0001c0001 a0001c0007 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0007t0001 a0001c0020t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(36): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0007t0001g0031 a0001c0007t0001g0222 a0001c0007t0001g0224 a0001c0020t0001g0238	46	364	0.1264	-13	c.16 others(24): Show c.1659_*1671delCTTTTTTTTTTTT	EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding		775		chr7	TogoVar
EPHX2_chr8_27486143_27550564	27529408	ACTTGGCC others(6): Show ACTTGGCCTGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0283 a0018c0022t0002g0283	1	374	0.0027	-13	c.117 others(32): Show c.1170+3936_1170+3948delCTTGGCCTGGGGG	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	12/18			chr8	TogoVar
EPHX4_chr1_92024985_92068538	92064727	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01891.hp2 HG03130.hp2 others(2): Show HG00140.hp2 HG01891.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0172	5	236	0.0212	-13	c.14 others(24): Show c.1442_*1454delAAAAAAAAAAAAA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding		1190		chr1	TogoVar
EPOR_chr19_11372207_11389314	11384572	GCCTGGCA others(6): Show GCCTGGCACATAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	404	0.0025	-13	c.-37 others(22): Show c.-378_-366delGCTATGTGCCAGG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		259		chr19	TogoVar
EPO_chr7_100715468_100728700	100724838	AACTGTAT others(6): Show AACTGTATGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	-13	c.17 others(24): Show c.1706_*1718delACTGTATGGGAGG	EPO	ENSG00000130427.3	transcript	ENST00000252723.3	protein_coding		1139		chr7	TogoVar
EPPIN_chr20_45535626_45552401	45548608	CTCTTCTC others(6): Show CTCTTCTCTTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG02055.hp1 others(21): Show HG00597.hp1 HG01243.hp2 HG02055.hp1 HG02165.hp1 HG02897.hp2 HG03209.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA19009.hp2 NA19064.hp2 NA19077.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0002c0002t0009 a0001c0001t0003 a0002c0002t0004 a0002c0002t0009	a0001c0001t0003g0030 a0002c0002t0004g0006 a0002c0002t0004g0022 others(2): Show a0001c0001t0003g0030 a0002c0002t0004g0006 a0002c0002t0004g0022 a0002c0002t0004g0029 a0002c0002t0009g0011	24	438	0.0548	-13	c.-12 others(24): Show c.-1264_-1252delAGAGAAGAGAAGA	EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding		1208		chr20	TogoVar
EPRS1_chr1_219963600_220051505	219994637	CTTCTTTT others(6): Show CTTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02615.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	3	358	0.0084	-13	c.254 others(32): Show c.2541+2333_2541+2345delAAAAAAAAAAGAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	18/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219994640	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02602.hp2 HG02735.hp2 others(7): Show HG02273.hp1 HG02602.hp2 HG02735.hp2 HG02895.hp1 NA18941.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA19001.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0002 a0001c0002t0001 a0001c0018t0002 a0001c0001t0002 a0001c0002t0001 a0001c0018t0002	a0001c0001t0002g0242 a0001c0001t0002g0271 a0001c0001t0002g0285 others(7): Show a0001c0001t0002g0242 a0001c0001t0002g0271 a0001c0001t0002g0285 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0325 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0001g0179 a0001c0018t0002g0020	10	358	0.0279	-13	c.254 others(32): Show c.2541+2330_2541+2342delAAAAAAAAAAAAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	18/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220008107	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18972.hp2 others(1): Show NA18949.hp1 NA18949.hp2 NA18972.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0078 a0001c0001t0002g0145 a0001c0001t0002g0332 others(1): Show a0001c0001t0002g0078 a0001c0001t0002g0145 a0001c0001t0002g0332 a0001c0002t0001g0150	4	358	0.0112	-13	c.160 others(30): Show c.1606-782_1606-770delTTTTTTTTTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	13/31			chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16350581	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	276	0.0036	-13	c.51 others(24): Show c.5111_*5123delTTTTTTTTTTTTT	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding		4665		chr19	TogoVar
EPS15_chr1_51349263_51524266	51357388	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20129.hp2 HG00642.hp1 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0133 a0002c0001t0007g0134	2	152	0.0132	-13	c.254 others(30): Show c.2545-555_2545-543delATATATATATTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24			chr1	TogoVar
EPS8L2_chr11_701231_732727	728551	CAGGCCCC others(6): Show CAGGCCCCCGGAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02109.hp1 HG02145.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0001 a0003c0008t0004 a0001c0003t0001 a0003c0008t0004	a0001c0003t0001g0275 a0003c0008t0004g0040 a0001c0003t0001g0275 a0003c0008t0004g0040	2	406	0.0049	-13	c.15 others(24): Show c.1571_*1583delAGGCCCCCGGAAG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding		825		chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42983563	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01069.hp1 others(19): Show HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02293.hp2 HG02683.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 others(7): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0020	a0001c0001t0004g0152 a0001c0001t0004g0157 a0001c0001t0004g0162 others(19): Show a0001c0001t0004g0152 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0008g0160 a0001c0001t0017g0159 a0001c0001t0017g0174 a0001c0001t0020g0154 a0001c0001t0021g0148 a0001c0001t0021g0155 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0005g0149 a0001c0002t0005g0181 a0001c0002t0008g0161 a0001c0002t0011g0147 a0001c0002t0011g0156 a0001c0002t0020g0150	22	352	0.0625	-13	c.188 others(30): Show c.188+8402_188+8414delTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	1/10			chr13	TogoVar
EPX_chr17_58187726_58210174	58203931	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18955.hp2 NA18972.hp1 others(1): Show HG02818.hp2 NA18955.hp2 NA18972.hp1 NA19240.hp2	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0004 a0005c0006 a0011c0015 a0003c0004 a0005c0006 a0011c0015	a0003c0004t0002 a0005c0006t0002 a0011c0015t0001 a0003c0004t0002 a0005c0006t0002 a0011c0015t0001	a0003c0004t0002g0046 a0003c0004t0002g0050 a0005c0006t0002g0086 others(1): Show a0003c0004t0002g0046 a0003c0004t0002g0050 a0005c0006t0002g0086 a0011c0015t0001g0107	4	404	0.0099	-13	c.194 others(30): Show c.1947-264_1947-252delAAAAAAAAAAAAA	EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERAL1_chr17_28850016_28866061	28864697	TGACAAGA others(6): Show TGACAAGAGTGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	380	0.0026	-13	c.41 others(24): Show c.4145_*4157delGACAAGAGTGAGA	ERAL1	ENSG00000132591.12	transcript	ENST00000254928.10	protein_coding		3637		chr17	TogoVar
ERAP1_chr5_96769484_96812945	96808248	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0310 a0010c0012t0001g0310	1	416	0.0024	-13	c.-41 others(22): Show c.-419_-407delACACACACACACA	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		304		chr5	TogoVar
ERBB3_chr12_56075165_56108505	56100939	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	392	0.0026	-13	c.320 others(29): Show c.3202-109_3202-97delAAAAAAAAAAAAA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211536105	GATTCTCT others(6): Show GATTCTCTTCCTGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0024 a0001c0001t0025	a0001c0001t0024g0038 a0001c0001t0025g0051 a0001c0001t0024g0038 a0001c0001t0025g0051	2	56	0.0357	-13	c.248 others(34): Show c.2487+25785_2487+25797delACAGGAAGAGAAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211580893	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0045 a0001c0001t0023g0012 a0001c0001t0001g0045 a0001c0001t0023g0012	2	56	0.0357	-13	c.230 others(34): Show c.2302-18818_2302-18806delATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622983	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	56	0.0179	-13	c.220 others(30): Show c.2202+926_2202+938delATATATTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211662038	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02717.hp2 others(5): Show HG01243.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0002t0001	a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0040 others(5): Show a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0010g0005 a0001c0001t0014g0007 a0001c0001t0023g0012 a0001c0002t0001g0036 a0001c0002t0001g0037	8	56	0.1429	-13	c.187 others(32): Show c.1871+3272_1871+3284delTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211861350	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp1 HG02895.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0043 a0001c0001t0009g0023 a0001c0001t0007g0043 a0001c0001t0009g0023	2	56	0.0357	-13	c.422 others(32): Show c.422-73204_422-73192delAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	56	0.0179	-13	c.235 others(32): Show c.235-67439_235-67427delATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240637	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	56	0.0179	-13	c.83- others(32): Show c.83-115747_83-115735delTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66050226	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19010.hp2 NA19004.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0294 a0001c0002t0002g0289 a0001c0002t0002g0294	2	306	0.0065	-13	c.190 others(30): Show c.1904-533_1904-521delTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66065647	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	306	0.0033	-13	c.363 others(32): Show c.3634-6520_3634-6508delGTGTGTGTGTGTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1004875	ATATAGAA others(6): Show ATATAGAATTCAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0116 a0002c0002t0116	a0002c0002t0116g0107 a0002c0002t0116g0107	1	162	0.0062	-13	c.-15 others(34): Show c.-157+13568_-157+13580delATAGAATTCAGGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1042344	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0121 a0001c0001t0067g0121	1	162	0.0062	-13	c.669 others(32): Show c.669+13780_669+13792delTTTTTCTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1051529	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp1 others(36): Show HG00140.hp2 HG00639.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01261.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG06807.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0013 others(5): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0007 a0005c0010 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0030 a0001c0001t0043 a0001c0001t0056 a0001c0001t0057 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0083 a0001c0001t0103 a0001c0003t0046 a0001c0013t0063 a0002c0002t0002 a0002c0002t0006 a0002c0002t0038 a0002c0002t0042 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0099 a0002c0002t0131 a0002c0007t0059 a0005c0010t0082 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 others(36): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0008g0086 a0001c0001t0015g0023 a0001c0001t0030g0109 a0001c0001t0043g0084 a0001c0001t0056g0085 a0001c0001t0057g0156 a0001c0001t0068g0083 a0001c0001t0069g0092 a0001c0001t0071g0074 a0001c0001t0083g0130 a0001c0001t0103g0132 a0001c0003t0046g0088 a0001c0013t0063g0077 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0038g0082 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0099g0131 a0002c0002t0131g0065 a0002c0007t0059g0071 a0005c0010t0082g0126 a0007c0012t0073g0067 a0008c0011t0044g0068	39	162	0.2407	-13	c.669 others(32): Show c.669+22970_669+22982delAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1119510	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 NA19090.hp2 HG01884.hp2 HG02109.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0002c0002t0001 a0002c0002t0006 a0001c0001t0031 a0002c0002t0001 a0002c0002t0006	a0001c0001t0031g0118 a0002c0002t0001g0149 a0002c0002t0006g0122 a0001c0001t0031g0118 a0002c0002t0001g0149 a0002c0002t0006g0122	3	162	0.0185	-13	c.156 others(32): Show c.1569+3479_1569+3491delTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1126986	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(69): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18949.hp1 NA18949.hp2 NA18966.hp1 NA18982.hp1 NA19030.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0004c0005 a0007c0012 a0008c0011	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(63): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0032 a0001c0001t0040 a0001c0001t0043 a0001c0001t0050 a0001c0001t0062 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0077 a0001c0001t0087 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0103 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0001t0138 a0001c0001t0141 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0005 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0048 a0002c0002t0072 a0002c0002t0081 a0002c0002t0084 a0002c0002t0098 a0002c0002t0101 a0002c0002t0102 a0002c0002t0105 a0002c0002t0116 a0002c0002t0128 a0002c0006t0051 a0004c0005t0122 a0007c0012t0073 a0008c0011t0044	a0001c0001t0003g0035 a0001c0001t0007g0044 a0001c0001t0007g0048 others(69): Show a0001c0001t0003g0035 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0008g0010 a0001c0001t0008g0086 a0001c0001t0009g0007 a0001c0001t0010g0009 a0001c0001t0011g0020 a0001c0001t0011g0034 a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0027g0119 a0001c0001t0032g0159 a0001c0001t0040g0150 a0001c0001t0043g0084 a0001c0001t0050g0144 a0001c0001t0062g0147 a0001c0001t0067g0121 a0001c0001t0068g0083 a0001c0001t0069g0092 a0001c0001t0077g0012 a0001c0001t0087g0046 a0001c0001t0093g0008 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0103g0132 a0001c0001t0106g0003 a0001c0001t0108g0064 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0117g0001 a0001c0001t0118g0026 a0001c0001t0119g0061 a0001c0001t0120g0024 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0125g0033 a0001c0001t0126g0030 a0001c0001t0138g0095 a0001c0001t0141g0002 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0005g0133 a0002c0002t0035g0143 a0002c0002t0036g0158 a0002c0002t0037g0042 a0002c0002t0038g0082 a0002c0002t0048g0070 a0002c0002t0072g0145 a0002c0002t0081g0123 a0002c0002t0084g0025 a0002c0002t0098g0045 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0105g0148 a0002c0002t0116g0107 a0002c0002t0128g0054 a0002c0006t0051g0081 a0004c0005t0122g0057 a0007c0012t0073g0067 a0008c0011t0044g0068	72	162	0.4444	-13	c.156 others(34): Show c.1569+10968_1569+10980delAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1164307	ATGTTATT others(6): Show ATGTTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02572.hp1 others(4): Show HG00639.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0016 a0002c0002t0104 a0002c0002t0131 others(3): Show a0002c0002t0016 a0002c0002t0104 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0005c0010t0082	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0104g0043 others(4): Show a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0104g0043 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0005c0010t0082g0126	7	162	0.0432	-13	c.173 others(34): Show c.1738-16218_1738-16206delGTTATTTTATTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1266391	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02735.hp1 HG03654.hp2 HG00544.hp1 HG02735.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0068 a0001c0001t0124 a0001c0001t0013 a0001c0001t0068 a0001c0001t0124	a0001c0001t0013g0015 a0001c0001t0068g0083 a0001c0001t0124g0050 a0001c0001t0013g0015 a0001c0001t0068g0083 a0001c0001t0124g0050	3	162	0.0185	-13	c.261 others(32): Show c.2619+3245_2619+3257delTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1276229	CTTTTTCT others(6): Show CTTTTTCTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0137 a0002c0002t0055g0137	1	162	0.0062	-13	c.261 others(34): Show c.2619+13070_2619+13082delCTTTTTCTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG01981.hp1 others(4): Show HG00408.hp2 HG01433.hp1 HG01981.hp1 HG02976.hp1 HG03927.hp2 NA18612.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0011 a0001c0001t0031 a0001c0001t0091 others(4): Show a0001c0001t0011 a0001c0001t0031 a0001c0001t0091 a0001c0001t0108 a0001c0001t0120 a0002c0002t0042 a0003c0004t0003	a0001c0001t0011g0034 a0001c0001t0031g0118 a0001c0001t0091g0028 others(4): Show a0001c0001t0011g0034 a0001c0001t0031g0118 a0001c0001t0091g0028 a0001c0001t0108g0064 a0001c0001t0120g0024 a0002c0002t0042g0079 a0003c0004t0003g0058	7	162	0.0432	-13	c.278 others(34): Show c.2781-30734_2781-30722delTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1394033	ACAAAAAA others(6): Show ACAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01175.hp2 others(17): Show HG00738.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01433.hp1 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02155.hp2 HG02258.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03516.hp1 HG03927.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0030 a0001c0001t0056 a0001c0001t0061 a0001c0001t0083 a0001c0001t0090 a0001c0001t0091 a0001c0001t0108 a0002c0002t0047 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0100 a0002c0006t0051 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010	a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0028g0129 others(17): Show a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0028g0129 a0001c0001t0030g0109 a0001c0001t0056g0085 a0001c0001t0061g0153 a0001c0001t0083g0130 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0108g0064 a0002c0002t0047g0104 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0100g0134 a0002c0006t0051g0081 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053	20	162	0.1235	-13	c.292 others(34): Show c.2926-14115_2926-14103delCAAAAAAAAAACC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1415507	TTTTGTCC others(6): Show TTTTGTCCATCTTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0131 a0002c0002t0099g0131	1	162	0.0062	-13	c.302 others(32): Show c.3024+7261_3024+7273delTTTGTCCATCTTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1440601	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02922.hp1 others(2): Show HG01243.hp1 HG02258.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 others(2): Show a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0100	a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 others(2): Show a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0100g0134	5	162	0.0309	-13	c.302 others(32): Show c.3025-3960_3025-3948delGTGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1464913	GAAATATT others(6): Show GAAATATTTTATAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0003 a0001c0001t0106g0003	1	162	0.0062	-13	c.321 others(34): Show c.3213+20180_3213+20192delTATTTTATAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1483668	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG02109.hp2 others(12): Show HG00741.hp1 HG01109.hp2 HG02109.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03516.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0049 a0001c0001t0067 a0001c0001t0133 others(12): Show a0001c0001t0049 a0001c0001t0067 a0001c0001t0133 a0002c0002t0017 a0002c0002t0018 a0002c0002t0026 a0002c0002t0042 a0002c0002t0047 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0115 a0002c0002t0116 a0002c0002t0135 a0009c0008t0041	a0001c0001t0049g0157 a0001c0001t0067g0121 a0001c0001t0133g0094 others(12): Show a0001c0001t0049g0157 a0001c0001t0067g0121 a0001c0001t0133g0094 a0002c0002t0017g0097 a0002c0002t0018g0117 a0002c0002t0026g0115 a0002c0002t0042g0079 a0002c0002t0047g0104 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0115g0049 a0002c0002t0116g0107 a0002c0002t0135g0093 a0009c0008t0041g0140	15	162	0.0926	-13	c.321 others(32): Show c.3214-6399_3214-6387delTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55675903	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 HG02258.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0021 a0001c0001t0012g0023 a0001c0001t0002g0021 a0001c0001t0012g0023	2	74	0.0270	-13	c.39 others(30): Show c.39+7878_*39+7890delAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691544	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01169.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01169.hp2 HG01934.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0003t0003	a0001c0001t0001g0048 a0001c0001t0003g0069 a0001c0001t0005g0053 others(1): Show a0001c0001t0001g0048 a0001c0001t0003g0069 a0001c0001t0005g0053 a0002c0003t0003g0056	4	74	0.0541	-13	c.284 others(32): Show c.2848-7698_2848-7686delTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar

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