Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	90	0.0111	46	c.196 others(65): Show c.1967+1959_1967+1960insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796851	T T	TATATATA others(39): Show TATATATATTATATATTATATATATTATATATTATATATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18956.hp1 NA19084.hp2 HG03516.hp1 NA18956.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0006g0188 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0006g0188	3	330	0.0091	46	c.-43 others(57): Show c.-4349_-4348insCATATAATATATATAATATATAATATATATAATA TATAATATATAT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3899		chr14	TogoVar
EML5_chr14_88607431_88797953	88796883	T T	TATATATA others(39): Show TATATATATTATATATTATATATATTATATATTATATATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA19002.hp2 NA18990.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0003t0020 a0001c0001t0025 a0001c0003t0020	a0001c0001t0025g0191 a0001c0003t0020g0171 a0001c0001t0025g0191 a0001c0003t0020g0171	2	330	0.0061	46	c.-43 others(57): Show c.-4381_-4380insCATATAATATATATAATATATAATATATATAATA TATAATATATAT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3931		chr14	TogoVar
ENPP6_chr4_184083706_184222873	184220398	A A	AGATGGGA others(39): Show AGATGGGAAGAAGGGAAAGGGAGGGATGGGAAGAAGGGAAAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(28): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02027.hp2 HG02071.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0010 a0001c0002 a0002c0001 a0002c0010	a0001c0002t0002 a0001c0002t0004 a0002c0001t0001 others(2): Show a0001c0002t0002 a0001c0002t0004 a0002c0001t0001 a0002c0001t0024 a0002c0010t0001	a0001c0002t0002g0008 a0001c0002t0002g0030 a0001c0002t0002g0036 others(26): Show a0001c0002t0002g0008 a0001c0002t0002g0030 a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0043 a0001c0002t0002g0049 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0004g0040 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0007 a0002c0001t0001g0013 a0002c0001t0001g0033 a0002c0001t0001g0035 a0002c0001t0001g0038 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0054 a0002c0001t0001g0058 a0002c0001t0001g0060 a0002c0001t0001g0062 a0002c0001t0024g0034 a0002c0010t0001g0053	31	188	0.1649	46	c.-26 others(57): Show c.-2625_-2580dupCCTCCCTTTCCCTTCTTCCCATCCCTCCCTTTCC CTTCTTCCCATC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2526		chr4	TogoVar
ENPP6_chr4_184083706_184222873	184220450	G G	GAAGAAGG others(39): Show GAAGAAGGGAAAGGGAGGGATGGGAAGAAGGGAAAGGGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01993.hp1 others(4): Show HG01109.hp2 HG01433.hp2 HG01993.hp1 HG02922.hp2 HG03225.hp2 NA18979.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 a0002c0001t0002	a0001c0002t0002g0118 a0001c0003t0003g0114 a0001c0003t0003g0115 others(4): Show a0001c0002t0002g0118 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0120 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0002g0142	7	310	0.0226	46	c.-26 others(57): Show c.-2632_-2631insTCCATCCCTCCCTTTCCCTTCTTCCCATCCCTCC CTTTCCCTTCTT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2578		chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(39): Show CATATATATATACATATATATATATACATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0101 a0002c0001t0002g0101	1	242	0.0041	46	c.253 others(61): Show c.253+739_253+740insACATATATATATATACATATATACATATAT ATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(39): Show CATATATATATACATATATATATATATACATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0104 a0002c0001t0002g0104	1	242	0.0041	46	c.253 others(61): Show c.253+739_253+740insACATATATATATATATACATATATACACAT ATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(39): Show CATATATATATATATACATATATACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG01168.hp1 others(2): Show HG00280.hp2 HG00423.hp2 HG01168.hp1 HG02895.hp1 HG03927.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0005 a0001c0003 a0002c0001 a0003c0005	a0001c0003t0001 a0002c0001t0001 a0003c0005t0001 a0001c0003t0001 a0002c0001t0001 a0003c0005t0001	a0001c0003t0001g0181 a0002c0001t0001g0178 a0002c0001t0001g0179 others(2): Show a0001c0003t0001g0181 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0003c0005t0001g0161	5	246	0.0203	46	c.253 others(61): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGAGA others(39): Show GGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	244	0.0041	46	c.120 others(63): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403464	G G	GGGGAAGA others(39): Show GGGGAAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0019 a0011c0018t0019	a0011c0018t0019g0075 a0011c0018t0019g0075	1	408	0.0025	46	c.120 others(63): Show c.1209-578_1209-577insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403464	G G	GGGGGAGA others(39): Show GGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	408	0.0025	46	c.120 others(63): Show c.1209-578_1209-577insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(39): Show AACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19005.hp2 HG03834.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0265 a0001c0003t0002g0216 a0001c0001t0002g0265 a0001c0003t0002g0216	2	211	0.0095	46	c.-8+ others(63): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	152	0.0066	46	c.-8+ others(63): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACCCCCCCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0238 a0001c0001t0022g0238	1	152	0.0066	46	c.-8+ others(63): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACCCCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPDR1_chr7_37915640_37956936	37956243	A A	AGGAGGTG others(39): Show AGGAGGTGGAGGAGGAGGAGGTGGAGAAGGAGGAGGTGGCGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(302): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19059.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0003c0007 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0002t0026 a0001c0002t0030 a0001c0002t0032 a0001c0002t0033 a0001c0005t0002 a0001c0005t0006 a0001c0006t0001 a0001c0006t0002 a0002c0003t0002 a0003c0007t0006 a0004c0009t0004 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0394 a0001c0001t0001g0397 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0059 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0166 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0229 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0320 a0001c0001t0002g0326 a0001c0001t0002g0343 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0376 a0001c0001t0002g0400 a0001c0001t0002g0405 a0001c0001t0004g0038 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0061 a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0076 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0115 a0001c0001t0004g0120 a0001c0001t0004g0127 a0001c0001t0004g0133 a0001c0001t0004g0137 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0170 a0001c0001t0004g0183 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0197 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0338 a0001c0001t0004g0354 a0001c0001t0004g0358 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0265 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0282 a0001c0001t0005g0285 a0001c0001t0005g0287 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0006g0033 a0001c0001t0006g0037 a0001c0001t0006g0046 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0060 a0001c0001t0006g0062 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0071 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0082 a0001c0001t0006g0087 a0001c0001t0006g0102 a0001c0001t0006g0107 a0001c0001t0006g0131 a0001c0001t0006g0142 a0001c0001t0006g0171 a0001c0001t0006g0192 a0001c0001t0006g0223 a0001c0001t0006g0237 a0001c0001t0006g0309 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0006g0357 a0001c0001t0006g0360 a0001c0001t0006g0364 a0001c0001t0006g0380 a0001c0001t0006g0399 a0001c0001t0007g0021 a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0007g0266 a0001c0001t0007g0270 a0001c0001t0007g0283 a0001c0001t0009g0015 a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0011g0003 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0342 a0001c0001t0013g0044 a0001c0001t0013g0346 a0001c0001t0013g0347 a0001c0001t0013g0366 a0001c0001t0017g0248 a0001c0001t0017g0269 a0001c0001t0017g0284 a0001c0001t0018g0296 a0001c0001t0018g0395 a0001c0001t0020g0035 a0001c0001t0020g0239 a0001c0001t0023g0147 a0001c0001t0024g0146 a0001c0001t0029g0252 a0001c0001t0034g0295 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0175 a0001c0002t0001g0185 a0001c0002t0001g0301 a0001c0002t0001g0401 a0001c0002t0002g0029 a0001c0002t0002g0149 a0001c0002t0002g0218 a0001c0002t0002g0328 a0001c0002t0002g0362 a0001c0002t0002g0396 a0001c0002t0002g0398 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0090 a0001c0002t0004g0193 a0001c0002t0004g0199 a0001c0002t0004g0210 a0001c0002t0004g0234 a0001c0002t0004g0236 a0001c0002t0004g0322 a0001c0002t0004g0370 a0001c0002t0004g0371 a0001c0002t0004g0378 a0001c0002t0005g0254 a0001c0002t0007g0258 a0001c0002t0007g0288 a0001c0002t0009g0083 a0001c0002t0009g0088 a0001c0002t0009g0089 a0001c0002t0009g0235 a0001c0002t0009g0374 a0001c0002t0016g0009 a0001c0002t0016g0032 a0001c0002t0019g0017 a0001c0002t0025g0379 a0001c0002t0026g0373 a0001c0002t0030g0249 a0001c0002t0032g0324 a0001c0002t0033g0291 a0001c0005t0002g0382 a0001c0005t0002g0383 a0001c0005t0006g0392 a0001c0006t0001g0145 a0001c0006t0002g0163 a0002c0003t0002g0323 a0003c0007t0006g0103 a0004c0009t0004g0375 a0005c0008t0001g0010	305	389	0.7841	46	c.58 others(57): Show c.5847_*5848insGGAGGTGGAGGAGGAGGAGGTGGAGAAGGAGGAG GTGGCGGGGGAG	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding		4308		chr7	TogoVar
EPPK1_chr8_143852324_143883467	143878404	G G	GCCGCACC others(39): Show GCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCTGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0234 a0001c0234	a0001c0234t0001 a0001c0234t0001	a0001c0234t0001g0276 a0001c0234t0001g0276	1	343	0.0029	46	c.-46 others(59): Show c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGCGGGTGCGGCGGG TGCGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19240.hp2 HG03834.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0303 a0001c0001t0002g0253 a0001c0001t0002g0303	2	198	0.0101	46	c.432 others(63): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCCGGCA others(39): Show GCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGGGAGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	228	0.0044	46	c.557 others(59): Show c.557+71_557+72insCGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGG GAGGGGAGGAGCCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	212374023	T T	TATATATA others(39): Show TATATATATATCCATATATATCCATATATATATATCCATATATATCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	56	0.0179	46	c.82+ others(65): Show c.82+164380_82+164425dupGGATATATATGGATATATATATATGG ATATATATGGATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65940396	A A	ACCCCATC others(39): Show ACCCCATCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02723.hp2 others(8): Show HG02258.hp1 HG02451.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2	a0004 a0004	a0004c0005 a0004c0014 a0004c0017 a0004c0005 a0004c0014 a0004c0017	a0004c0005t0004 a0004c0005t0026 a0004c0014t0004 others(1): Show a0004c0005t0004 a0004c0005t0026 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 others(8): Show a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0018 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0022 a0004c0005t0026g0013 a0004c0014t0004g0019 a0004c0017t0004g0012	11	304	0.0362	46	c.-58 others(65): Show c.-58+13592_-58+13593insCCATCCGGGAGGGAGGTGGGGGTCAG CCCCCGCCAGGCCAGCCGCC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121839	C C	CTCTATCT others(39): Show CTCTATCTGTGTCTCTATCTCTATATCTCTATCTCTATCTCTATCTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02145.hp1 HG02615.hp2 others(4): Show HG01106.hp2 HG02145.hp1 HG02615.hp2 HG02922.hp2 HG02976.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0019 a0001c0001t0086 a0002c0002t0024 others(4): Show a0001c0001t0019 a0001c0001t0086 a0002c0002t0024 a0002c0002t0033 a0002c0002t0034 a0007c0012t0013 a0008c0011t0007	a0001c0001t0019g0157 a0001c0001t0086g0095 a0002c0002t0024g0148 others(4): Show a0001c0001t0019g0157 a0001c0001t0086g0095 a0002c0002t0024g0148 a0002c0002t0033g0143 a0002c0002t0034g0158 a0007c0012t0013g0067 a0008c0011t0007g0068	7	120	0.0583	46	c.156 others(65): Show c.1569+5807_1569+5808insCTATCTGTGTCTCTATCTCTATATCT CTATCTCTATCTCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121840	T T	TCTATCTC others(39): Show TCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	160	0.0063	46	c.156 others(65): Show c.1569+5807_1569+5808insCTATCTCTATCTGTGCCTATTGATAT ATCTGTATATATCTATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122303	C C	CTCTATCT others(39): Show CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	158	0.0063	46	c.156 others(65): Show c.1569+6271_1569+6272insCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122385	A A	ATCTATCT others(39): Show ATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0013 a0007c0012t0013	a0007c0012t0013g0067 a0007c0012t0013g0067	1	159	0.0063	46	c.156 others(65): Show c.1569+6355_1569+6356insATCTCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTGTGTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122445	A A	ATCTCTAT others(39): Show ATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03927.hp2 HG03654.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0070 a0001c0001t0019 a0001c0001t0070	a0001c0001t0019g0144 a0001c0001t0070g0064 a0001c0001t0019g0144 a0001c0001t0070g0064	2	149	0.0134	46	c.156 others(65): Show c.1569+6421_1569+6422insATCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTTTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EREG_chr4_74360145_74393749	74390806	T T	TAAAAAAA others(39): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0218 a0001c0001t0007g0218	1	353	0.0028	46	c.59 others(57): Show c.5998_*5999insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		2058		chr4	TogoVar
ERFL_chr19_41902704_41933449	41914611	T T	TCCCCCTC others(39): Show TCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0159 a0001c0002t0002g0134 a0001c0002t0002g0159	2	320	0.0063	46	c.-13 others(63): Show c.-13-1680_-13-1679insGGAGAGACAGAGACGGTGGAAAGGGGGG GAGACACGGTGGAGGGGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGAGGGGA others(39): Show AGAGGGGAGGGGGGGAGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	309	0.0032	46	c.156 others(63): Show c.156-1343_156-1342insAGGGGAGGGGGGGAGGGGGGGAGGGGGG GGGAGAGAGGGGAGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	254	0.0039	46	c.156 others(63): Show c.156-1325_156-1324insGAGGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	254	0.0039	46	c.156 others(63): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19057.hp1 NA18612.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0178 a0001c0001t0004g0023 a0001c0001t0004g0178	2	255	0.0078	46	c.156 others(63): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	254	0.0039	46	c.156 others(63): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	254	0.0039	46	c.156 others(63): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGAGAGAGGGG AGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	254	0.0039	46	c.156 others(63): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGAGAGAGGGG AGGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0291 a0001c0001t0013g0291	1	254	0.0039	46	c.156 others(63): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGGGAGAGAGG GGAGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(39): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	254	0.0039	46	c.156 others(63): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGAGAGAGGGG AGGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908341	G G	GGGGAGGG others(39): Show GGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	330	0.0030	46	c.156 others(63): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGAGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908341	G G	GGGGAGGG others(39): Show GGGGAGGGGGGGGGAGAGAGGGGAGGGGGGAGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	330	0.0030	46	c.156 others(63): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG AGGGGGGGAGGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(39): Show GGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	317	0.0032	46	c.156 others(63): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(39): Show GGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	317	0.0032	46	c.156 others(63): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG GAGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(39): Show GGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	317	0.0032	46	c.156 others(63): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERICH1_chr8_659200_736224	659281	C C	CCATCCTG others(39): Show CCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	102	0.0098	46	c.53 others(57): Show c.5321_*5322insCTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4918		chr8	TogoVar
ERICH1_chr8_659200_736224	659455	T T	TGTGCACT others(39): Show TGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01515.hp2 NA18964.hp1 HG01069.hp1 HG01515.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0001g0140 a0001c0001t0002g0290 a0001c0001t0002g0299	3	371	0.0081	46	c.51 others(57): Show c.5147_*5148insCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGA TGCTCAGTGCAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4744		chr8	TogoVar
ERICH1_chr8_659200_736224	659603	G G	GCATCCTG others(39): Show GCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	326	0.0031	46	c.49 others(57): Show c.4999_*5000insGTCAGTGCACACTGGAGATCTCGATGGTCACCCC CTCCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4596		chr8	TogoVar
ERICH1_chr8_659200_736224	659603	G G	GCATCCTG others(39): Show GCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	326	0.0031	46	c.49 others(57): Show c.4999_*5000insGTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4596		chr8	TogoVar
ERICH1_chr8_659200_736224	659731	T T	TGTGCACT others(39): Show TGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA19043.hp2 HG02055.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0215 a0001c0001t0001g0227	2	374	0.0053	46	c.48 others(57): Show c.4871_*4872insCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGA TGGTCAGTGCAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4468		chr8	TogoVar
ERICH1_chr8_659200_736224	695823	T T	TTCCTCTC others(39): Show TTCCTCTCCATCAGCCTGCACCTGTGCTCGCTCCTCTCACCCTCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0236 a0002c0005t0001g0236	1	332	0.0030	46	c.170 others(63): Show c.170-3212_170-3211insGTGGAGGGTGAGAGGAGCGAGCACAGGT GCAGGCTGATGGAGAGGA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700462	G G	GCGCACAG others(39): Show GCGCACAGGCCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02723.hp2 HG02735.hp2 others(1): Show HG00642.hp2 HG02723.hp2 HG02735.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0139 a0001c0002t0002g0342 a0001c0002t0002g0343 others(1): Show a0001c0002t0001g0139 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344	4	376	0.0106	46	c.170 others(63): Show c.170-7851_170-7850insGGCCTGTGCGCGTGTGCGGGCCTGTGCG CGTGTGCGGGCCTGTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073436	A A	ATATATAT others(39): Show ATATATATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19080.hp1 NA19062.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	161	0.0124	46	c.58+ others(61): Show c.58+8728_58+8729insGTATATATATATATATATATATATATGTAT ATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239839	A A	ATATATAT others(39): Show ATATATATATATATATGTGTATATATATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0263 a0001c0009t0005g0263	1	386	0.0026	46	c.506 others(63): Show c.506-3442_506-3441insCATATATATACACATATATATATATATA CACATATATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar

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