Joint Open Genome and Omics Platform (JoGo)

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(10): Show ACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	152	0.0066	17	c.-8+ others(34): Show c.-8+20700_-8+20701insACACACACACACCCCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29037879	A A	ATGTTGCT others(10): Show ATGTTGCTACATATGTAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01123.hp1 others(7): Show HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01981.hp2 HG02602.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016	a0001c0001t0004g0295 a0001c0001t0004g0300 a0001c0001t0004g0301 others(7): Show a0001c0001t0004g0295 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0311 a0001c0001t0012g0296 a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0016g0294 a0001c0001t0016g0297	10	310	0.0323	17	c.146 others(36): Show c.1464-1372_1464-1371insTGCTACATATGTACTGT		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	10/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29061572	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02683.hp2 HG00408.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0078 a0001c0001t0001g0020 a0001c0001t0001g0078	2	118	0.0169	17	c.200 others(36): Show c.2007+1098_2007+1114dupTTTTTTTTTTTTTTTTT		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32290483	C C	CTCAAAAA others(10): Show CTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	12	0.0833	17	c.975 others(32): Show c.975+679_975+680insTTTTTTTTTTTTTTTGA		EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13						chr10	TogoVar
EPC2_chr2_148639751_148792569	148733479	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	15	0.0667	17	c.314 others(36): Show c.314-10123_314-10107dupTTTTTTTTTTTTTTTTT		EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47368413	C C	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02109.hp2 others(9): Show HG00639.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02922.hp2 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0034 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0318	12	114	0.1053	17	c.-10 others(28): Show c.-1093_-1092insTCTTTTTTTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					897		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47368413	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01256.hp1 HG01261.hp2 others(8): Show HG01167.hp1 HG01256.hp1 HG01261.hp2 HG01515.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG03486.hp1 HG04228.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0207 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0207 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0314 a0001c0001t0001g0337 a0001c0001t0003g0345 a0001c0001t0004g0349	11	113	0.0973	17	c.-10 others(28): Show c.-1093_-1092insTTTTTTTTTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					897		chr2	TogoVar
EPHA10_chr1_37710976_37770120	37770039	A A	ACACACAC others(10): Show ACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0335 a0003c0004t0006g0335	1	380	0.0026	17	c.-49 others(28): Show c.-4974_-4973insGTGTGTGTGTGTGTGTG		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding					4920		chr1	TogoVar
EPHA1_chr7_143386129_143413856	143390626	C C	CCCCTGGA others(10): Show CCCCTGGACGGTCACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0022 a0022	a0022c0019 a0022c0019	a0022c0019t0004 a0022c0019t0004	a0022c0019t0004g0111 a0022c0019t0004g0111	1	424	0.0024	17	c.81 others(26): Show c.814_*830dupCACGTGACCGTCCAGGG		EPHA1	ENSG00000146904.9	transcript	ENST00000275815.4	protein_coding					502		chr7	TogoVar
EPHA3_chr3_89102621_89487134	89136330	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp2 NA18981.hp1 HG00438.hp1 HG01070.hp2 NA18981.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0008t0001 a0003c0004t0002 a0001c0001t0001 a0001c0008t0001 a0003c0004t0002	a0001c0001t0001g0113 a0001c0008t0001g0030 a0003c0004t0002g0025 a0001c0001t0001g0113 a0001c0008t0001g0030 a0003c0004t0002g0025	3	42	0.0714	17	c.153 others(34): Show c.153+9065_153+9081dupTTTTTTTTTTTTTTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGAGAAGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	59	0.0169	17	c.154 others(34): Show c.154-1434_154-1433insGAAGGAAGAGAAGAAAG		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTGTTTTT others(10): Show GTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	92	0.0109	17	c.814 others(34): Show c.814+9169_814+9170insGTTTTTTTTTTTTTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89352902	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	163	0.0061	17	c.130 others(38): Show c.1306+10817_1306+10833dupAAAAAAAAAAAAAAAAA		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221483500	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	161	0.0062	17	c.980 others(32): Show c.980-811_980-810insCACACACACACACACAC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	4/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65418862	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0003 a0001c0001t0033g0003	1	41	0.0244	17	c.152 others(36): Show c.1527+1562_1527+1578dupAAAAAAAAAAAAAAAAA		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	6/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65650559	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02895.hp1 others(8): Show HG02280.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03225.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043	a0001c0001t0006g0107 a0001c0001t0008g0113 a0001c0001t0009g0108 others(8): Show a0001c0001t0006g0107 a0001c0001t0008g0113 a0001c0001t0009g0108 a0001c0001t0016g0114 a0001c0001t0016g0115 a0001c0001t0019g0104 a0001c0001t0019g0106 a0001c0001t0019g0110 a0001c0001t0037g0012 a0001c0001t0038g0109 a0001c0001t0043g0111	11	63	0.1746	17	c.182 others(34): Show c.182-7133_182-7132insTTTTTTTTTTTTTTTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97187688	G G	GGAAAGAA others(10): Show GGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	28	0.0357	17	c.111 others(38): Show c.1115-38567_1115-38566insGAAAGAAAGAAAGAAAG		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97324405	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0081 a0001c0001t0017g0081	1	24	0.0417	17	c.160 others(38): Show c.1606+80118_1606+80119insCTTTCTTTCTTTCTTTC		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17						chr3	TogoVar
EPHA7_chr6_93235020_93424559	93311114	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0006 a0001c0002t0007g0006	1	69	0.0145	17	c.132 others(38): Show c.1325-38709_1325-38693dupAAAAAAAAAAAAAAAAA		EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16						chr6	TogoVar
EPHB1_chr3_134790260_135265467	135025221	A A	ATTTATTT others(10): Show ATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01106.hp1 others(8): Show HG00639.hp1 HG00733.hp2 HG01106.hp1 HG01123.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02132.hp2 HG02602.hp2 HG03540.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0016 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0004t0004	a0001c0001t0001g0062 a0001c0002t0001g0065 a0001c0002t0006g0070 others(8): Show a0001c0001t0001g0062 a0001c0002t0001g0065 a0001c0002t0006g0070 a0001c0002t0010g0095 a0001c0002t0016g0119 a0001c0003t0001g0047 a0001c0003t0011g0100 a0001c0004t0001g0067 a0001c0004t0001g0071 a0001c0004t0004g0114 a0001c0004t0004g0115	11	123	0.0894	17	c.805 others(36): Show c.805+73171_805+73172insTATTTATTTATTTATTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX3_chr19_15221919_15237448	15229885	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	85	0.0118	17	c.616 others(34): Show c.616+1060_616+1076dupTTTTTTTTTTTTTTTTT		EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding	4/6						chr19	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	40	0.0250	17	c.-29 others(36): Show c.-293-5180_-293-5164dupTTTTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	50	0.0200	17	c.766 others(34): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG01175.hp1 others(22): Show HG00738.hp2 HG01106.hp2 HG01175.hp1 HG01928.hp2 HG01952.hp2 HG02056.hp2 HG02257.hp1 HG02559.hp1 HG02970.hp1 HG03225.hp2 HG03654.hp2 HG04184.hp2 HG04204.hp1 NA18942.hp2 NA18949.hp1 NA18951.hp1 NA18972.hp2 NA18979.hp1 NA18984.hp2 NA18989.hp2 NA19002.hp2 NA19005.hp2 NA19070.hp2 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0006t0001	a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0161 others(22): Show a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0279 a0001c0001t0006g0073 a0001c0001t0006g0185 a0001c0001t0015g0186 a0001c0006t0001g0182	25	74	0.3378	17	c.766 others(34): Show c.766+3938_766+3954dupTTTTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	42	0.0238	17	c.114 others(36): Show c.1147+5272_1147+5288dupAAAAAAAAAAAAAAAAA		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN3_chr17_50527735_50548750	50530497	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02572.hp1 others(5): Show HG01167.hp2 HG01169.hp2 HG02572.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 NA18942.hp1 NA19240.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0006 a0002c0002 a0003c0003 a0005c0006	a0002c0002t0001 a0003c0003t0008 a0005c0006t0010 a0002c0002t0001 a0003c0003t0008 a0005c0006t0010	a0002c0002t0001g0002 a0002c0002t0001g0037 a0003c0003t0008g0016 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0037 a0003c0003t0008g0016 a0005c0006t0010g0038	8	75	0.1067	17	c.-26 others(28): Show c.-2625_-2624insAAAAAAAAAAAAAAAAA		EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding					2237		chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	219	0.0046	17	c.-46 others(26): Show c.-461_-460insGAGAGAGAGAGAGAGAG		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA18954.hp1 NA18954.hp2 others(2): Show HG03486.hp2 NA18954.hp1 NA18954.hp2 NA19070.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0007g0047 a0001c0001t0001g0003 a0001c0001t0007g0047	5	355	0.0141	17	c.-49 others(26): Show c.-497_-496insAGAGAGAGAGAGAGAGA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					390		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143864337	C C	CGCGCAGG others(10): Show CGCGCAGGGCACAGCGCA	frameshift_variant frameshift_variant	HIGH	NA19054.hp2 NA19054.hp2	a0033 a0033	a0033c0033 a0033c0033	a0033c0033t0002 a0033c0033t0002	a0033c0033t0002g0292 a0033c0033t0002g0292	1	422	0.0024	17	c.890 others(26): Show c.8900_8916dupTGCGCTGTGCCCTGCGC	p.Asp others(6): Show p.Asp2973fs	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	8991/16005	8916/15267	2972/5088			chr8	TogoVar
EPS15_chr1_51349263_51524266	51357391	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0021 a0002c0001t0021	a0002c0001t0021g0143 a0002c0001t0021g0143	1	108	0.0093	17	c.254 others(34): Show c.2545-546_2545-545insATATTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51357391	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp2 HG02572.hp1 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0027 a0002c0001t0006g0029	2	109	0.0183	17	c.254 others(34): Show c.2545-546_2545-545insATATATATATATATATT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51357391	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	108	0.0093	17	c.254 others(34): Show c.2545-546_2545-545insATATATATATATATATA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS8L2_chr11_701231_732727	707573	T T	TCCCCCAC others(10): Show TCCCCCACCACCAGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0335 a0002c0009t0001g0335	1	404	0.0025	17	c.-79 others(34): Show c.-79+1289_-79+1290insCACCACCAGTGGGCCCC		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	709155	T T	TCAACTGG others(10): Show TCAACTGGGACATGGGGC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	229	0.0044	17	c.-78 others(32): Show c.-78-165_-78-164insATGGGGCCAACTGGGAC		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	709155	T T	TCAACTGG others(10): Show TCAACTGGGACGTGGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(160): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0003c0008 a0005c0014 a0006c0017 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004 a0001c0002t0020 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009 a0001c0003t0024 a0001c0004t0004 a0001c0004t0005 a0001c0004t0014 a0001c0004t0026 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0006t0002 a0001c0006t0005 a0001c0006t0011 a0003c0008t0002 a0003c0008t0004 a0005c0014t0005 a0006c0017t0002 a0008c0015t0011	a0001c0001t0001g0269 a0001c0001t0002g0118 a0001c0001t0002g0119 others(130): Show a0001c0001t0001g0269 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0022 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0097 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0047 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0004g0074 a0001c0001t0004g0085 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0007g0011 a0001c0001t0007g0087 a0001c0001t0007g0120 a0001c0001t0007g0138 a0001c0001t0009g0128 a0001c0001t0025g0098 a0001c0002t0002g0001 a0001c0002t0002g0010 a0001c0002t0002g0026 a0001c0002t0002g0029 a0001c0002t0002g0042 a0001c0002t0002g0116 a0001c0002t0002g0122 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0270 a0001c0002t0004g0020 a0001c0002t0004g0053 a0001c0002t0004g0059 a0001c0002t0004g0060 a0001c0002t0004g0079 a0001c0002t0004g0080 a0001c0002t0020g0264 a0001c0003t0002g0121 a0001c0003t0002g0123 a0001c0003t0002g0133 a0001c0003t0002g0274 a0001c0003t0003g0008 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0046 a0001c0003t0003g0048 a0001c0003t0003g0066 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0004g0052 a0001c0003t0004g0068 a0001c0003t0004g0114 a0001c0003t0007g0009 a0001c0003t0007g0124 a0001c0003t0007g0125 a0001c0003t0007g0126 a0001c0003t0007g0131 a0001c0003t0007g0265 a0001c0003t0009g0002 a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0003t0009g0127 a0001c0003t0009g0130 a0001c0003t0009g0136 a0001c0003t0024g0329 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0005g0021 a0001c0004t0005g0024 a0001c0004t0005g0049 a0001c0004t0005g0057 a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0005g0062 a0001c0004t0005g0063 a0001c0004t0005g0064 a0001c0004t0005g0067 a0001c0004t0005g0073 a0001c0004t0005g0088 a0001c0004t0005g0094 a0001c0004t0005g0106 a0001c0004t0014g0045 a0001c0004t0026g0095 a0001c0005t0002g0140 a0001c0005t0003g0096 a0001c0005t0004g0081 a0001c0006t0002g0132 a0001c0006t0005g0050 a0001c0006t0005g0103 a0001c0006t0005g0105 a0001c0006t0011g0041 a0001c0006t0011g0134 a0001c0006t0011g0266 a0001c0006t0011g0275 a0001c0006t0011g0333 a0003c0008t0002g0276 a0003c0008t0002g0277 a0003c0008t0004g0051 a0005c0014t0005g0054 a0006c0017t0002g0010 a0008c0015t0011g0263	163	391	0.4169	17	c.-78 others(32): Show c.-78-148_-78-132dupCGTGGGGCCAACTGGGA		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	727200	G G	GCTTGGTG others(10): Show GCTTGGTGGTGCCAGCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01109.hp1 others(41): Show HG00280.hp1 HG00280.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03942.hp2 HG04184.hp1 NA18747.hp1 NA18943.hp2 NA18967.hp2 NA19000.hp2 NA19043.hp2 NA19054.hp1 NA19086.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0002c0010 a0002c0012 a0005c0014 a0008c0015	a0001c0001t0008 a0001c0004t0005 a0001c0004t0008 others(10): Show a0001c0001t0008 a0001c0004t0005 a0001c0004t0008 a0001c0004t0011 a0001c0004t0014 a0001c0004t0026 a0001c0006t0005 a0001c0006t0008 a0001c0006t0011 a0002c0010t0008 a0002c0012t0008 a0005c0014t0005 a0008c0015t0011	a0001c0001t0008g0179 a0001c0001t0008g0183 a0001c0004t0005g0021 others(37): Show a0001c0001t0008g0179 a0001c0001t0008g0183 a0001c0004t0005g0021 a0001c0004t0005g0024 a0001c0004t0005g0049 a0001c0004t0005g0057 a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0005g0062 a0001c0004t0005g0063 a0001c0004t0005g0064 a0001c0004t0005g0067 a0001c0004t0005g0073 a0001c0004t0005g0088 a0001c0004t0005g0094 a0001c0004t0005g0106 a0001c0004t0008g0172 a0001c0004t0008g0194 a0001c0004t0008g0227 a0001c0004t0008g0315 a0001c0004t0011g0321 a0001c0004t0014g0045 a0001c0004t0026g0095 a0001c0006t0005g0050 a0001c0006t0005g0103 a0001c0006t0005g0105 a0001c0006t0008g0300 a0001c0006t0008g0312 a0001c0006t0008g0313 a0001c0006t0011g0041 a0001c0006t0011g0134 a0001c0006t0011g0266 a0001c0006t0011g0275 a0001c0006t0011g0333 a0002c0010t0008g0261 a0002c0010t0008g0262 a0002c0010t0008g0327 a0002c0012t0008g0328 a0005c0014t0005g0054 a0008c0015t0011g0263	44	404	0.1089	17	c.22 others(26): Show c.224_*240dupGTGGTGCCAGCCCCTTG		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	21/21				241	INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01192.hp1 others(14): Show HG00438.hp1 HG00544.hp1 HG01192.hp1 HG01361.hp2 HG01516.hp1 HG01978.hp1 HG02027.hp2 HG02109.hp2 HG02293.hp1 HG02698.hp1 HG03041.hp1 HG03579.hp1 NA18972.hp1 NA19010.hp2 NA19074.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0035 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0036	a0001c0001t0002g0185 a0001c0001t0002g0343 a0001c0001t0004g0171 others(14): Show a0001c0001t0002g0185 a0001c0001t0002g0343 a0001c0001t0004g0171 a0001c0001t0006g0304 a0001c0001t0006g0327 a0001c0001t0008g0143 a0001c0001t0016g0338 a0001c0001t0017g0172 a0001c0001t0020g0154 a0001c0001t0024g0337 a0001c0001t0035g0098 a0001c0002t0001g0043 a0001c0002t0005g0134 a0001c0002t0006g0305 a0001c0002t0009g0100 a0001c0002t0010g0195 a0001c0002t0036g0141	17	25	0.6800	17	c.564 others(36): Show c.564-12502_564-12486dupTTTTTTTTTTTTTTTTT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01123.hp1 others(14): Show HG00544.hp1 HG00741.hp2 HG01123.hp1 HG01261.hp2 HG01358.hp1 HG01934.hp1 HG02818.hp2 HG03195.hp1 HG04115.hp1 NA18942.hp1 NA18942.hp2 NA18956.hp1 NA18968.hp2 NA18970.hp2 NA18986.hp2 NA18987.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0024 a0001c0001t0054 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0003t0003	a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0004g0122 others(14): Show a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0004g0122 a0001c0001t0004g0132 a0001c0001t0008g0114 a0001c0001t0012g0218 a0001c0001t0024g0181 a0001c0001t0054g0316 a0001c0002t0001g0029 a0001c0002t0003g0224 a0001c0002t0003g0228 a0001c0002t0005g0108 a0001c0002t0009g0100 a0001c0002t0010g0229 a0001c0002t0023g0031 a0001c0002t0023g0139 a0001c0003t0003g0194	17	232	0.0733	17	c.331 others(32): Show c.331+139_331+140insGTGTGTGTGTGTGTGTG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG04204.hp2 HG02258.hp2 HG02922.hp1 HG04204.hp2	a0001 a0005 a0001 a0005	a0001c0023 a0005c0010 a0001c0023 a0005c0010	a0001c0023t0003 a0005c0010t0001 a0001c0023t0003 a0005c0010t0001	a0001c0023t0003g0048 a0005c0010t0001g0037 a0001c0023t0003g0048 a0005c0010t0001g0037	3	129	0.0233	17	c.230 others(34): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTT		ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB3_chr12_56075165_56108505	56091299	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0043 a0002c0003t0003g0043	1	383	0.0026	17	c.111 others(36): Show c.1110-1447_1110-1446insTATATATATATATATAA		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB3_chr12_56075165_56108505	56091300	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0238 a0002c0003t0001g0238	1	380	0.0026	17	c.111 others(36): Show c.1110-1447_1110-1446insTATATATATATATATAT		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27						chr12	TogoVar
ERBB4_chr2_211370717_212543802	211413305	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19043.hp2 HG01069.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0030 a0001c0001t0005 a0001c0001t0030	a0001c0001t0005g0044 a0001c0001t0030g0056 a0001c0001t0005g0044 a0001c0001t0030g0056	2	40	0.0500	17	c.313 others(36): Show c.3135+7135_3135+7136insTTTTTTTTTTTTTTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	25/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211413309	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp1 HG02717.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0050 a0001c0001t0003g0017 a0001c0001t0003g0050	2	34	0.0588	17	c.313 others(36): Show c.3135+7131_3135+7132insGTTTTTTTTTTTTTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	25/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0028 a0001c0001t0020 a0001c0001t0028	a0001c0001t0020g0028 a0001c0001t0028g0053 a0001c0001t0020g0028 a0001c0001t0028g0053	2	27	0.0741	17	c.248 others(38): Show c.2487+45990_2487+45991insATATATATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	26	0.0385	17	c.248 others(38): Show c.2487+45990_2487+45991insAAAAATATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211571038	C C	CCTCTTTT others(10): Show CCTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0023 a0001c0001t0012g0001 a0001c0001t0009g0023 a0001c0001t0012g0001	2	53	0.0377	17	c.230 others(36): Show c.2302-8951_2302-8950insAAAAAAAAAAAAAAGAG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211611407	A A	AGCTTTAC others(10): Show AGCTTTACTTTTGCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01175.hp1 others(31): Show HG01069.hp1 HG01069.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0002c0003t0001	a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0024 others(31): Show a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0007g0043 a0001c0001t0008g0004 a0001c0001t0010g0022 a0001c0001t0011g0042 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0001t0019g0002 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0001t0027g0055 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0016g0019 a0001c0002t0018g0010 a0002c0003t0001g0014	34	49	0.6939	17	c.230 others(36): Show c.2301+7753_2301+7769dupGAAAGCAAAAGTAAAGC		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211611424	C C	CGCTTTAC others(10): Show CGCTTTACTTTTGCTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02717.hp1 others(5): Show HG02145.hp1 HG02258.hp2 HG02717.hp1 HG02965.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0006g0039 a0001c0001t0007g0018 others(5): Show a0001c0001t0001g0021 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0009g0046 a0001c0001t0017g0029 a0001c0001t0020g0028 a0001c0001t0028g0053 a0001c0002t0001g0020	8	56	0.1429	17	c.230 others(36): Show c.2301+7752_2301+7753insAAAAGCAAAAGTAAAGC		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG02258.hp2 others(1): Show HG01069.hp1 HG01192.hp1 HG02258.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0030	a0001c0001t0006g0039 a0001c0001t0008g0013 a0001c0001t0009g0046 others(1): Show a0001c0001t0006g0039 a0001c0001t0008g0013 a0001c0001t0009g0046 a0001c0001t0030g0056	4	17	0.2353	17	c.162 others(34): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211721443	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	4	0.2500	17	c.883 others(32): Show c.883+933_883+949dupTTTTTTTTTTTTTTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27						chr2	TogoVar

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