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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19068.hp1 NA18965.hp2 NA19068.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0003 a0011c0012t0003 a0001c0001t0003 a0011c0012t0003	a0001c0001t0003g0215 a0011c0012t0003g0190 a0001c0001t0003g0215 a0011c0012t0003g0190	2	21	0.0952	19	c.-14 others(38): Show c.-14-16457_-14-16439dupTTTTTTTTTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5480026	A A	AAAGGTCA others(12): Show AAAGGTCATTAGAAGCTATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	220	0.0045	19	c.184 others(36): Show c.184-1607_184-1589dupAATAGCTTCTAATGACCTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0075 a0001c0002t0019g0075	1	15	0.0667	19	c.100 others(36): Show c.100-7034_100-7016dupTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAACAAA others(12): Show TAAACAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0097 a0001c0001t0040g0097	1	15	0.0667	19	c.100 others(36): Show c.100-7016_100-7015insTTTTTTTTTTTTTTTGTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112346215	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0054 a0002c0003t0006g0054	1	222	0.0045	19	c.100 others(38): Show c.100-38726_100-38725insAAAAAAAAAAAAAAAAAAA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp2 HG02818.hp1 others(8): Show HG01934.hp1 HG01981.hp2 HG02818.hp1 HG03139.hp2 NA18959.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA19060.hp2 NA19066.hp1 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0017 a0001c0002t0068 a0001c0004t0011 a0003c0007t0023 a0003c0008t0011	a0001c0001t0001g0042 a0001c0001t0002g0177 a0001c0001t0003g0269 others(8): Show a0001c0001t0001g0042 a0001c0001t0002g0177 a0001c0001t0003g0269 a0001c0002t0001g0110 a0001c0002t0004g0058 a0001c0002t0005g0180 a0001c0002t0017g0185 a0001c0002t0068g0297 a0001c0004t0011g0059 a0003c0007t0023g0222 a0003c0008t0011g0022	11	21	0.5238	19	c.307 others(36): Show c.307-8820_307-8802dupTTTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	4	0.2500	19	c.117 others(38): Show c.1179-2088_1179-2087insGTGTGTGTGTGTGTGTGTG	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24			chr2	TogoVar
EPB41_chr1_28909569_29125041	28921938	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18943.hp2 HG02257.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0126 a0001c0001t0001g0004 a0001c0001t0001g0126	2	134	0.0149	19	c.-8+ others(34): Show c.-8+7170_-8+7171insATATATATATATATATATA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPB41_chr1_28909569_29125041	28934666	T T	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	7	0.1429	19	c.-8+ others(36): Show c.-8+19899_-8+19900insTGTGTGTGTGTGTGTGTGT	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(12): Show ACACACACACACACCCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	152	0.0066	19	c.-8+ others(36): Show c.-8+20700_-8+20701insACACACACACACCCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32290483	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0218 a0001c0004t0006g0218	1	12	0.0833	19	c.975 others(34): Show c.975+661_975+679dupTTTTTTTTTTTTTTTTTTT	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13			chr10	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(12): Show TTATATTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp1 HG01517.hp2 others(3): Show HG01106.hp1 HG01515.hp1 HG01517.hp2 HG02015.hp2 NA18963.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 others(3): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0073 a0001c0001t0002g0105	6	215	0.0279	19	c.172 others(38): Show c.1720+3236_1720+3237insATATTATATATATATATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTT others(12): Show TTATATTTTTTATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG03130.hp1 others(1): Show HG00639.hp2 HG02809.hp1 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132	4	213	0.0188	19	c.172 others(38): Show c.1720+3236_1720+3237insATATTTTTTATATATATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148774640	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	306	0.0033	19	c.172 others(38): Show c.1720+3254_1720+3255insATATATATATATATATATT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47368413	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00621.hp2 others(33): Show HG00438.hp2 HG00558.hp1 HG00621.hp2 HG01168.hp2 HG01261.hp1 HG01516.hp2 HG01975.hp1 HG01993.hp1 HG02056.hp1 HG02135.hp1 HG02273.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18949.hp1 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18997.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 others(29): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0313 a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241	36	138	0.2609	19	c.-10 others(30): Show c.-1093_-1092insTCTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		897		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47368413	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG02717.hp1 others(2): Show HG01099.hp1 HG02486.hp2 HG02717.hp1 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0242 a0001c0001t0001g0244 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0338	5	107	0.0467	19	c.-10 others(30): Show c.-1093_-1092insTTTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		897		chr2	TogoVar
EPHA3_chr3_89102621_89487134	89161991	T T	TAATAATA others(12): Show TAATAATAGTAATAATAATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	198	0.0051	19	c.153 others(38): Show c.153+34726_153+34744dupGTAATAATAATAAATAATA	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(12): Show GTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03491.hp2 HG00642.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0112 a0001c0001t0001g0077 a0001c0001t0001g0112	2	93	0.0215	19	c.814 others(36): Show c.814+9169_814+9170insGTTTTTTTTTTTTTTTTTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0194 a0002c0002t0012g0194	1	92	0.0109	19	c.814 others(36): Show c.814+9182_814+9183insTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0083 a0002c0005t0005g0083	1	163	0.0061	19	c.130 others(40): Show c.1306+10815_1306+10833dupAAAAAAAAAAAAAAAAAAA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65418862	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	41	0.0244	19	c.152 others(38): Show c.1527+1560_1527+1578dupAAAAAAAAAAAAAAAAAAA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	6/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97366351	G G	GCATATAC others(12): Show GCATATACACATAGCATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	82	0.0122	19	c.160 others(40): Show c.1607-38796_1607-38795insATACACATAGCATATACAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97373393	G G	GCTGGTGG others(12): Show GCTGGTGGTATTCCTCTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02280.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0019 a0001c0002t0001 a0001c0002t0019	a0001c0002t0001g0009 a0001c0002t0019g0008 a0001c0002t0001g0009 a0001c0002t0019g0008	2	82	0.0244	19	c.160 others(40): Show c.1607-31755_1607-31737dupTGGTGGTATTCCTCTTTTC	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93311114	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02055.hp1 others(2): Show HG01109.hp1 HG01891.hp2 HG02055.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0002t0007 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0007t0006 a0001c0008t0026	a0001c0001t0001g0057 a0001c0002t0007g0058 a0001c0007t0006g0018 others(2): Show a0001c0001t0001g0057 a0001c0002t0007g0058 a0001c0007t0006g0018 a0001c0007t0006g0021 a0001c0008t0026g0278	5	73	0.0685	19	c.132 others(40): Show c.1325-38711_1325-38693dupAAAAAAAAAAAAAAAAAAA	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHA7_chr6_93235020_93424559	93386696	T T	TGCAGCAA others(12): Show TGCAGCAAACTTCTGCCTGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG03225.hp2 HG02717.hp1 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0002 a0001c0007t0006 a0001c0001t0002 a0001c0002t0002 a0001c0007t0006	a0001c0001t0002g0130 a0001c0002t0002g0060 a0001c0007t0006g0055 a0001c0001t0002g0130 a0001c0002t0002g0060 a0001c0007t0006g0055	3	278	0.0108	19	c.832 others(38): Show c.832+23804_832+23805insCCAGGCAGAAGTTTGCTGC	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	3/16			chr6	TogoVar
EPHA8_chr1_22558489_22608595	22578080	T T	TGTGTGTG others(12): Show TGTGTGTGCATGTAGCGTCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 others(23): Show HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01358.hp1 HG01884.hp1 HG01943.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp2 NA18948.hp1 NA19010.hp2 NA20752.hp2	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0008c0031 a0013c0030	a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 others(8): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0044 a0001c0011t0008 a0001c0011t0010 a0001c0015t0008 a0008c0031t0004 a0013c0030t0004	a0001c0001t0002g0015 a0001c0001t0002g0133 a0001c0001t0002g0143 others(22): Show a0001c0001t0002g0015 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0009g0132 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0121 a0001c0002t0004g0122 a0001c0002t0004g0124 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0141 a0001c0002t0005g0079 a0001c0002t0008g0118 a0001c0002t0008g0120 a0001c0002t0008g0130 a0001c0002t0044g0123 a0001c0011t0008g0134 a0001c0011t0010g0142 a0001c0015t0008g0119 a0001c0015t0008g0140 a0008c0031t0004g0125 a0013c0030t0004g0071	26	340	0.0765	19	c.823 others(36): Show c.823+1205_823+1223dupGTGCATGTAGCGTCAGTGT	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(12): Show CCTTTCTTTCTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG02559.hp2 others(4): Show HG01175.hp2 HG01433.hp2 HG02559.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0014 a0001c0007t0009	a0001c0001t0001g0055 a0001c0001t0002g0033 a0001c0001t0002g0053 others(4): Show a0001c0001t0001g0055 a0001c0001t0002g0033 a0001c0001t0002g0053 a0001c0001t0003g0034 a0001c0002t0001g0060 a0001c0004t0014g0018 a0001c0007t0009g0030	7	21	0.3333	19	c.59- others(36): Show c.59-43039_59-43038insTTTCTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183026	T T	TTTTCTTT others(12): Show TTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18948.hp1 HG04228.hp2 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0002 a0001c0002t0010 a0001c0003t0002	a0001c0002t0010g0095 a0001c0003t0002g0063 a0001c0002t0010g0095 a0001c0003t0002g0063	2	98	0.0204	19	c.188 others(38): Show c.1882+3051_1882+3052insTCTTTTCTTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92064727	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	19	0.0526	19	c.14 others(30): Show c.1441_*1442insAAAAAAAAAAAAAAAAAAA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding		1190		chr1	TogoVar
EPM2A_chr6_145620305_145740520	145656643	T T	TTTGGCAA others(12): Show TTTGGCAACATGATGACATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	318	0.0063	19	c.477 others(38): Show c.477-21176_477-21158dupCATGTCATCATGTTGCCAA	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3			chr6	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(12): Show GTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	50	0.0200	19	c.766 others(36): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTT	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(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG02145.hp1 others(3): Show HG00597.hp2 HG01243.hp2 HG02145.hp1 HG03098.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0001g0234	6	55	0.1091	19	c.766 others(36): Show c.766+3936_766+3954dupTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp2 HG02155.hp1 others(5): Show HG01256.hp2 HG01433.hp2 HG02155.hp1 HG02615.hp2 HG03490.hp2 HG03579.hp2 NA18955.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0068 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087	8	49	0.1633	19	c.114 others(38): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19339314	A A	ACTCACAC others(12): Show ACTCACACTGCACATCCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	280	0.0036	19	c.50 others(30): Show c.5060_*5061insCTCACACTGCACATCCTAT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding		2600		chr17	TogoVar
EPPK1_chr8_143852324_143883467	143878356	A A	ACCCGCAC others(12): Show ACCCGCACCCGCCGCACCTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01975.hp1 HG02055.hp2 others(5): Show HG01192.hp1 HG01975.hp1 HG02055.hp2 HG02280.hp2 HG02630.hp2 HG03471.hp2 NA18952.hp2 NA19004.hp1	a0011 a0024 a0039 others(3): Show a0011 a0024 a0039 a0071 a0118 a0142	a0011c0044 a0011c0134 a0024c0024 others(4): Show a0011c0044 a0011c0134 a0024c0024 a0039c0042 a0071c0135 a0118c0119 a0142c0068	a0011c0044t0005 a0011c0134t0001 a0024c0024t0001 others(4): Show a0011c0044t0005 a0011c0134t0001 a0024c0024t0001 a0039c0042t0004 a0071c0135t0005 a0118c0119t0001 a0142c0068t0002	a0011c0044t0005g0068 a0011c0134t0001g0069 a0024c0024t0001g0065 others(5): Show a0011c0044t0005g0068 a0011c0134t0001g0069 a0024c0024t0001g0065 a0039c0042t0004g0067 a0039c0042t0004g0071 a0071c0135t0005g0070 a0118c0119t0001g0066 a0142c0068t0002g0064	8	422	0.0190	19	c.-46 others(32): Show c.-46+63_-46+81dupCAGGTGCGGCGGGTGCGGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPS15L1_chr19_16350247_16476970	16429660	A A	ACCCTGCC others(12): Show ACCCTGCCCACACACCTGAC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	274	0.0036	19	c.499 others(34): Show c.499-900_499-899insGTCAGGTGTGTGGGCAGGG	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	7/23			chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55071597	G G	GACCAGAC others(12): Show GACCAGACCTCAGCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	338	0.0030	19	c.-43 others(30): Show c.-4360_-4359insACCAGACCTCAGCCCCTCC	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding		4271		chr19	TogoVar
EPS8L2_chr11_701231_732727	720958	C C	CCGGCAGG others(12): Show CCGGCAGGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0124 a0001c0003t0007g0124	1	383	0.0026	19	c.557 others(32): Show c.557+50_557+51insGGCAGGGGAGGGGAGGAGC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01123.hp1 others(29): Show HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01261.hp2 HG01433.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02293.hp2 HG02647.hp2 HG02818.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18967.hp1 NA18998.hp2 NA19006.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19075.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0025 a0001c0002t0051 a0001c0002t0052	a0001c0001t0002g0267 a0001c0001t0002g0314 a0001c0001t0004g0122 others(29): Show a0001c0001t0002g0267 a0001c0001t0002g0314 a0001c0001t0004g0122 a0001c0001t0014g0272 a0001c0001t0017g0118 a0001c0001t0018g0021 a0001c0001t0019g0349 a0001c0001t0024g0181 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0151 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0237 a0001c0002t0003g0287 a0001c0002t0003g0291 a0001c0002t0003g0295 a0001c0002t0005g0128 a0001c0002t0007g0184 a0001c0002t0007g0234 a0001c0002t0008g0175 a0001c0002t0009g0117 a0001c0002t0010g0339 a0001c0002t0011g0022 a0001c0002t0023g0139 a0001c0002t0025g0269 a0001c0002t0051g0266 a0001c0002t0052g0220	32	40	0.8000	19	c.564 others(38): Show c.564-12486_564-12485insTTTTTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02622.hp1 others(7): Show HG01109.hp1 HG02572.hp1 HG02622.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18967.hp1 NA18991.hp1 NA19077.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(5): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0057 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0025	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0015g0238 others(7): Show a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0015g0238 a0001c0001t0016g0347 a0001c0001t0057g0197 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0008g0161 a0001c0002t0010g0212 a0001c0002t0025g0230	10	225	0.0444	19	c.331 others(34): Show c.331+139_331+140insGTGTGTGTGTGTGTGTGTG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERBB4_chr2_211370717_212543802	211413309	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	33	0.0303	19	c.313 others(38): Show c.3135+7131_3135+7132insGTGTGTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	25/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211524674	C C	CTCCGGCT others(12): Show CTCCGGCTGCTCCGAGTGCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	41	0.0244	19	c.248 others(40): Show c.2487+37228_2487+37229insCGCACTCGGAGCAGCCGGA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211571041	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	9	0.1111	19	c.230 others(38): Show c.2302-8972_2302-8954dupAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp1 NA18906.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028	a0001c0001t0020g0028 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0020g0028 a0001c0001t0027g0055 a0001c0001t0028g0053	3	16	0.1875	19	c.162 others(36): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	20	0.0500	19	c.421 others(38): Show c.421+12503_421+12504insTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240637	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	12	0.0833	19	c.83- others(38): Show c.83-115753_83-115735dupTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0012 a0001c0001t0023g0012	1	21	0.0476	19	c.-23 others(30): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	65958596	C C	CAGAGGGA others(12): Show CAGAGGGAGACCGTGGAAGG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0278 a0002c0003t0008g0278	1	303	0.0033	19	c.-57 others(38): Show c.-57-30023_-57-30005dupAAGGAGAGGGAGACCGTGG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965382	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0187 a0002c0003t0005g0187	1	37	0.0270	19	c.-57 others(38): Show c.-57-23230_-57-23212dupTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66051907	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0160 a0001c0007t0010g0160	1	299	0.0033	19	c.208 others(36): Show c.2087+942_2087+943insAAAAAAAAAAAAAAAAAGA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr5	TogoVar

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