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
EML2_chr19_45604400_45644397	45637646	TTTTTTTT others(14): Show TTTTTTTTTTCTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03491.hp2 HG01099.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	380	0.0053	-21	c.179 others(36): Show c.179+838_179+858delGAAAAGAAAAAGAAAAAAAAA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	3/18			chr19	TogoVar
EML2_chr19_45604400_45644397	45642256	AGGACCGC others(14): Show AGGACCGCCAGCTCGTCTTCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	380	0.0026	-21	c.-29 others(32): Show c.-2901_-2881delAGGAAGACGAGCTGGCGGTCC	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding		2860		chr19	TogoVar
EML5_chr14_88607431_88797953	88796444	TTTTATAT others(14): Show TTTTATATATATATTATGTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01099.hp2 others(15): Show HG00323.hp1 HG00733.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01358.hp1 HG02027.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp2 NA18906.hp1 NA19000.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0001t0019 a0001c0003t0004 others(4): Show a0001c0001t0011 a0001c0001t0019 a0001c0003t0004 a0001c0003t0006 a0002c0002t0001 a0002c0002t0021 a0002c0002t0039	a0001c0001t0011g0214 a0001c0001t0019g0212 a0001c0001t0019g0217 others(15): Show a0001c0001t0011g0214 a0001c0001t0019g0212 a0001c0001t0019g0217 a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0313 a0001c0003t0006g0221 a0002c0002t0001g0227 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0260 a0002c0002t0001g0270 a0002c0002t0021g0292 a0002c0002t0039g0297	18	328	0.0549	-21	c.-39 others(32): Show c.-3962_-3942delTAAACATAATATATATATAAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3492		chr14	TogoVar
ENAH_chr1_225481829_225658123	225520919	AGGAAGGG others(14): Show AGGAAGGGAGGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0051 a0003c0004t0051	a0003c0004t0051g0236 a0003c0004t0051g0236	1	306	0.0033	-21	c.435 others(38): Show c.435-1375_435-1355delCTCCCTCCCTCCCTCCCTTCC	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13			chr1	TogoVar
ENKD1_chr16_67657945_67671750	67663577	AGTTGATG others(14): Show AGTTGATGACCCGAGGGCAGAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	272	0.0037	-21	c.744 others(34): Show c.744-42_744-22delCTCTGCCCTCGGGTCATCAAC	ENKD1	ENSG00000124074.12	transcript	ENST00000243878.9	protein_coding	5/6			chr16	TogoVar
ENOX1_chr13_43208130_43791972	43247860	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	183	0.0055	-21	c.161 others(42): Show c.1612-11143_1612-11123delTATATATATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417193	AGGGAGAC others(14): Show AGGGAGACGGGAGACGGGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0177 a0001c0001t0038g0177	1	166	0.0060	-21	c.-74 others(38): Show c.-74-4226_-74-4206delGTCTCCCGTCTCCCGTCTCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43601446	AAGAATTA others(14): Show AAGAATTAGTGACCTTGGAGAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp2 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0055 a0001c0001t0015g0004 a0001c0001t0003g0055 a0001c0001t0015g0004	2	186	0.0108	-21	c.-21 others(42): Show c.-219+66012_-219+66032delGTCTCCAAGGTCACTAATTCT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43734199	GGTTGTTG others(14): Show GGTTGTTGTTGTTGTTGTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp1 others(127): Show HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0002c0004 a0002c0006 a0002c0007 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0027 a0001c0002t0029 a0001c0003t0013 a0001c0005t0003 a0001c0008t0002 a0001c0009t0001 a0001c0010t0006 a0002c0004t0039 a0002c0006t0001 a0002c0007t0003 a0003c0011t0004	a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0002g0006 others(127): Show a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0115 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0004g0003 a0001c0001t0004g0035 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0102 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0005g0149 a0001c0001t0005g0178 a0001c0001t0005g0185 a0001c0001t0007g0162 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0008g0017 a0001c0001t0008g0025 a0001c0001t0008g0047 a0001c0001t0008g0084 a0001c0001t0008g0092 a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0009g0033 a0001c0001t0009g0039 a0001c0001t0009g0101 a0001c0001t0010g0027 a0001c0001t0010g0038 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0010g0099 a0001c0001t0010g0129 a0001c0001t0014g0110 a0001c0001t0014g0117 a0001c0001t0015g0004 a0001c0001t0017g0054 a0001c0001t0017g0075 a0001c0001t0018g0103 a0001c0001t0021g0107 a0001c0001t0022g0005 a0001c0001t0023g0132 a0001c0001t0025g0125 a0001c0001t0026g0091 a0001c0001t0028g0024 a0001c0001t0030g0150 a0001c0001t0035g0179 a0001c0001t0038g0177 a0001c0001t0041g0187 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0128 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0176 a0001c0002t0006g0181 a0001c0002t0012g0026 a0001c0002t0012g0034 a0001c0002t0027g0121 a0001c0002t0029g0002 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0005t0003g0120 a0001c0008t0002g0077 a0001c0009t0001g0133 a0001c0010t0006g0161 a0002c0004t0039g0186 a0002c0006t0001g0100 a0002c0007t0003g0016 a0003c0011t0004g0119	130	137	0.9489	-21	c.-28 others(42): Show c.-285+52432_-285+52452delAACAACAACAACAACAACAAC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	41	0.0244	-21	c.-42 others(32): Show c.-4237_-4217delTTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790611	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA19079.hp1 NA19081.hp2 others(1): Show NA18978.hp1 NA19079.hp1 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0034 a0001c0002t0006 a0001c0001t0005 a0001c0001t0034 a0001c0002t0006	a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0034g0148 others(1): Show a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0034g0148 a0001c0002t0006g0153	4	186	0.0215	-21	c.-42 others(32): Show c.-4265_-4245delCTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3640		chr13	TogoVar
ENPP1_chr6_131803020_131900155	131877865	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA20129.hp2 HG01981.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0097 a0001c0001t0005g0100 a0001c0001t0001g0097 a0001c0001t0005g0100	2	274	0.0073	-21	c.189 others(38): Show c.1894-675_1894-655delATATATATATATATATATATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01106.hp2 HG01358.hp1 others(2): Show HG00544.hp2 HG01106.hp2 HG01358.hp1 HG02074.hp2 HG04204.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001 a0007c0016	a0001c0002t0001 a0001c0003t0001 a0001c0007t0002 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0007t0002 a0002c0001t0001 a0007c0016t0001	a0001c0002t0001g0018 a0001c0003t0001g0006 a0001c0007t0002g0227 others(2): Show a0001c0002t0001g0018 a0001c0003t0001g0006 a0001c0007t0002g0227 a0002c0001t0001g0055 a0007c0016t0001g0026	5	31	0.1613	-21	c.44 others(32): Show c.4419_*4439delAAAAAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTPD7_chr10_99654509_99716241	99702054	AAAACAAA others(14): Show AAAACAAAAATTGTTTTAACAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0036 a0001c0001t0035 a0001c0001t0036	a0001c0001t0035g0296 a0001c0001t0036g0300 a0001c0001t0035g0296 a0001c0001t0036g0300	2	406	0.0049	-21	c.142 others(38): Show c.1422-449_1422-429delATTGTTTTAACATAAACAAAA	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19009.hp1 NA18990.hp1 NA19009.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0020 a0001c0002 a0004c0020	a0001c0002t0016 a0004c0020t0033 a0001c0002t0016 a0004c0020t0033	a0001c0002t0016g0021 a0004c0020t0033g0071 a0001c0002t0016g0021 a0004c0020t0033g0071	2	3	0.6667	-21	c.277 others(40): Show c.277-54207_277-54187delAAAAAAAAAAAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
EPAS1_chr2_46292407_46391697	46362956	GGTGGTGG others(14): Show GGTGGTGGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG02965.hp1 others(5): Show HG01109.hp1 HG02717.hp1 HG02965.hp1 HG03831.hp2 HG04199.hp1 NA18956.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0002c0002t0001 a0002c0002t0005 a0003c0003t0009	a0001c0001t0001g0054 a0001c0001t0001g0269 a0001c0001t0004g0052 others(5): Show a0001c0001t0001g0054 a0001c0001t0001g0269 a0001c0001t0004g0052 a0001c0001t0004g0277 a0001c0001t0023g0141 a0002c0002t0001g0166 a0002c0002t0005g0018 a0003c0003t0009g0021	8	324	0.0247	-21	c.779 others(38): Show c.779+1887_779+1907delAGTGGTGGTGGTGGTGGTGGT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36211122	CACACCTG others(14): Show CACACCTGTAATCCCAGCACTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp2 HG02145.hp2 others(11): Show HG01081.hp2 HG01261.hp2 HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 others(2): Show a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 a0001c0003t0006 a0001c0003t0024	a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 others(10): Show a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 a0001c0002t0021g0039 a0001c0003t0006g0026 a0001c0003t0006g0179 a0001c0003t0006g0182 a0001c0003t0006g0184 a0001c0003t0006g0185 a0001c0003t0006g0186 a0001c0003t0006g0187 a0001c0003t0006g0188 a0001c0003t0024g0180	14	234	0.0598	-21	c.208 others(40): Show c.2080-1149_2080-1129delACACCTGTAATCCCAGCACTT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	15/21			chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36237750	GTATTATT others(14): Show GTATTATTATTATTATTATTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02451.hp1 HG02486.hp2 others(7): Show HG01081.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02723.hp1 HG02976.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0012	a0001c0002t0006 a0001c0003t0006 a0001c0003t0024 others(4): Show a0001c0002t0006 a0001c0003t0006 a0001c0003t0024 a0001c0005t0008 a0001c0007t0008 a0001c0008t0008 a0001c0012t0011	a0001c0002t0006g0038 a0001c0003t0006g0179 a0001c0003t0024g0180 others(7): Show a0001c0002t0006g0038 a0001c0003t0006g0179 a0001c0003t0024g0180 a0001c0005t0008g0030 a0001c0005t0008g0031 a0001c0005t0008g0048 a0001c0007t0008g0036 a0001c0007t0008g0037 a0001c0008t0008g0042 a0001c0012t0011g0041	10	98	0.1020	-21	c.84 others(32): Show c.8411_*8431delTATTATTATTATTATTATTAT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		4952		chr20	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03130.hp2 NA18964.hp2 HG01243.hp1 HG03130.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0030 a0001c0002t0002g0001 a0001c0002t0002g0030	3	35	0.0857	-21	c.34 others(32): Show c.3470_*3490delTTTTTTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112408698	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 HG03225.hp1 others(8): Show HG00558.hp1 HG02155.hp2 HG03225.hp1 HG03688.hp1 HG03834.hp2 NA18906.hp2 NA18960.hp1 NA19003.hp1 NA19057.hp1 NA19081.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 a0001c0002t0003 a0001c0002t0031 a0002c0008t0016	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 others(8): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0027g0064 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0168 a0001c0002t0031g0059 a0002c0008t0016g0057	11	226	0.0487	-21	c.99+ others(38): Show c.99+10222_99+10242delCTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0006c0007	a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 others(11): Show a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0010 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0004t0001 a0006c0007t0001	a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(133): Show a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0275 a0002c0002t0010g0157 a0002c0002t0010g0160 a0002c0002t0018g0207 a0002c0002t0019g0203 a0002c0002t0020g0112 a0002c0002t0021g0161 a0002c0002t0022g0174 a0002c0002t0023g0148 a0002c0002t0024g0182 a0002c0002t0025g0142 a0002c0004t0001g0189 a0006c0007t0001g0270	136	140	0.9714	-21	c.286 others(38): Show c.286-4031_286-4011delAAAAAAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148733479	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02970.hp2 others(1): Show HG02145.hp1 HG02451.hp2 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006	4	18	0.2222	-21	c.314 others(40): Show c.314-10127_314-10107delTTTTTTTTTTTTTTTTTTTTT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365513	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0123 a0001c0001t0013g0123	1	448	0.0022	-21	c.-39 others(32): Show c.-3992_-3972delATATATATATATATATATATA	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3797		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365514	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG04228.hp2 NA20805.hp2 HG00639.hp1 HG04228.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0213 a0001c0001t0001g0247 a0001c0001t0001g0034 a0001c0001t0001g0213 a0001c0001t0001g0247	3	390	0.0077	-21	c.-39 others(32): Show c.-3991_-3971delTATATATATATATATATATAT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3796		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365518	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG04184.hp2 NA18971.hp1 others(1): Show HG02074.hp2 HG04184.hp2 NA18971.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064	4	440	0.0091	-21	c.-39 others(32): Show c.-3987_-3967delTATATATATATATATATTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3792		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0057 a0001c0008t0001g0057	1	36	0.0278	-21	c.859 others(38): Show c.859-1534_859-1514delTTTTTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPGN_chr4_74303470_74321789	74308118	AGGTTATG others(14): Show AGGTTATGCTGCTTCCTAATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	364	0.0027	-21	c.-41 others(30): Show c.-415_-395delGGTTATGCTGCTTCCTAATTT	EPGN	ENSG00000182585.10	transcript	ENST00000413830.6	protein_coding		351		chr4	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03540.hp2 NA19005.hp1 HG02698.hp2 HG03540.hp2 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0040 a0003c0004 a0001c0001 a0001c0040 a0003c0004	a0001c0001t0001 a0001c0040t0011 a0003c0004t0005 a0001c0001t0001 a0001c0040t0011 a0003c0004t0005	a0001c0001t0001g0082 a0001c0040t0011g0049 a0003c0004t0005g0314 a0001c0001t0001g0082 a0001c0040t0011g0049 a0003c0004t0005g0314	3	40	0.0750	-21	c.149 others(40): Show c.1492-1302_1492-1282delAAAAAAAAAAAAAAAAAAAAA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16			chr1	TogoVar
EPHA3_chr3_89102621_89487134	89211721	TCTTTTTC others(14): Show TCTTTTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0187 a0002c0002t0003g0187	1	198	0.0051	-21	c.814 others(38): Show c.814+1205_814+1225delTTTCTTCTTCTTCTTCTCCTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01496.hp2 others(22): Show HG01123.hp1 HG01243.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02647.hp2 HG02896.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03710.hp1 HG06807.hp1 NA18969.hp2 NA19043.hp1 NA19070.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0008t0001 a0002c0002t0002 a0002c0002t0007 a0002c0003t0003 a0002c0005t0005 a0002c0005t0018 a0002c0006t0002	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0059 others(22): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0009g0149 a0001c0001t0017g0152 a0001c0001t0019g0056 a0001c0008t0001g0022 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0007g0141 a0002c0003t0003g0019 a0002c0003t0003g0031 a0002c0003t0003g0190 a0002c0005t0005g0070 a0002c0005t0018g0088 a0002c0006t0002g0142	25	76	0.3289	-21	c.814 others(38): Show c.814+1222_814+1242delCCTTCTTCTTCTTCTTCTTCT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89371575	GTCAGCCA others(14): Show GTCAGCCAGGGCCACCTCCAGT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0190 a0002c0003t0003g0190	1	198	0.0051	-21	c.130 others(42): Show c.1307-24257_1307-24237delCCAGGGCCACCTCCAGTTCAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221496305	GGCTATTG others(14): Show GGCTATTGAGCACTCAAAATGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0285 a0001c0001t0015g0285	1	292	0.0034	-21	c.979 others(38): Show c.979+4691_979+4711delACATTTTGAGTGCTCAATAGC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	4/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221499744	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19240.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0036 a0001c0003t0003 a0001c0001t0036 a0001c0003t0003	a0001c0001t0036g0113 a0001c0003t0003g0114 a0001c0001t0036g0113 a0001c0003t0003g0114	2	292	0.0068	-21	c.979 others(38): Show c.979+1252_979+1272delAAAAAAAAATATATATATATA	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	4/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566875	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02735.hp2 HG01081.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0278 a0001c0003t0003g0279 a0001c0001t0002g0278 a0001c0003t0003g0279	2	272	0.0074	-21	c.159 others(38): Show c.159+1822_159+1842delCCTTCTCCTTCTCCTTCTCCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566936	AGGAGAAG others(14): Show AGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0083 a0001c0003t0003g0083	1	270	0.0037	-21	c.159 others(38): Show c.159+1761_159+1781delCCCTTCTCCTTCTCCTTCTCC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA6_chr3_96809594_97766532	96826705	TATTTCCA others(14): Show TATTTCCAAATATTTTTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0028 a0001c0001t0002g0029	2	82	0.0244	-21	c.385 others(40): Show c.385+11698_385+11718delATTTCCAAATATTTTTCCCAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	1/17			chr3	TogoVar
EPHA7_chr6_93235020_93424559	93416998	GTCGGGAA others(14): Show GTCGGGAAGAGGAGAGTGGCTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0002 a0001c0001t0017 a0001c0002t0002	a0001c0001t0017g0256 a0001c0002t0002g0258 a0001c0001t0017g0256 a0001c0002t0002g0258	2	278	0.0072	-21	c.97+ others(36): Show c.97+2226_98-2232delAAGCCACTCTCCTCTTCCCGA	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	1/16			chr6	TogoVar
EPHA8_chr1_22558489_22608595	22599620	AGAAGGGA others(14): Show AGAAGGGAAGGAAGGAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(4): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG01074.hp1 HG01169.hp2 HG01515.hp2 HG03834.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0204 a0001c0006t0005g0209 a0001c0006t0005g0277 others(4): Show a0001c0006t0005g0204 a0001c0006t0005g0209 a0001c0006t0005g0277 a0001c0006t0005g0279 a0001c0006t0005g0280 a0001c0006t0005g0281 a0001c0006t0005g0282	7	340	0.0206	-21	c.238 others(38): Show c.2388+575_2388+595delAAGGGAAGGAAGGAAGGGAGG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX2_chr8_27486143_27550564	27501324	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18947.hp2 NA21309.hp2 HG01891.hp1 NA18947.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0020 a0001c0001 a0001c0002 a0006c0020	a0001c0001t0001 a0001c0002t0002 a0006c0020t0001 a0001c0001t0001 a0001c0002t0002 a0006c0020t0001	a0001c0001t0001g0151 a0001c0002t0002g0002 a0006c0020t0001g0109 a0001c0001t0001g0151 a0001c0002t0002g0002 a0006c0020t0001g0109	3	92	0.0326	-21	c.186 others(36): Show c.186+365_186+385delCTTCTTCTTCTTCTTCTTCTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX4_chr1_92024985_92068538	92064727	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0095	3	21	0.1429	-21	c.14 others(32): Show c.1442_*1462delAAAAAAAAAAAAAAAAAAAAA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding		1190		chr1	TogoVar
EPO_chr7_100715468_100728700	100726022	AGAACCTG others(14): Show AGAACCTGAGCACAGGATTTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	-21	c.28 others(32): Show c.2890_*2910delGAACCTGAGCACAGGATTTAG	EPO	ENSG00000130427.3	transcript	ENST00000252723.3	protein_coding		2323		chr7	TogoVar
EPRS1_chr1_219963600_220051505	219965738	GTACTGGC others(14): Show GTACTGGCAACCCCTGAACACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0021 a0003c0005t0001g0021	1	356	0.0028	-21	c.30 others(32): Show c.3047_*3067delGGTGTTCAGGGGTTGCCAGTA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding		2861		chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16393077	TATAATAA others(14): Show TATAATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp2 NA20300.hp2 HG03579.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0195 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0195	3	26	0.1154	-21	c.196 others(38): Show c.1967-658_1967-638delTATTATTATTATTATTATTAT	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	18/23			chr19	TogoVar
EPS15_chr1_51349263_51524266	51508213	GAAAAGAA others(14): Show GAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0002 a0002c0001t0012g0002	1	150	0.0067	-21	c.33+ others(38): Show c.33+10965_33+10985delTCTTTTCTTTTCTTTTCTTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS8L2_chr11_701231_732727	720943	CGGGGAGG others(14): Show CGGGGAGGGGAGGAGCCCGGCA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0306 a0001c0002t0001g0306	1	372	0.0027	-21	c.557 others(34): Show c.557+51_557+71delCGGCAGGGGAGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERAP1_chr5_96769484_96812945	96807668	TCGCGCCC others(14): Show TCGCGCCCCGTCGCCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG03130.hp2 others(1): Show HG02572.hp2 HG03098.hp1 HG03130.hp2 NA21309.hp1	a0001 a0017 a0020 a0001 a0017 a0020	a0001c0001 a0017c0021 a0020c0029 a0001c0001 a0017c0021 a0020c0029	a0001c0001t0001 a0017c0021t0013 a0020c0029t0022 a0001c0001t0001 a0017c0021t0013 a0020c0029t0022	a0001c0001t0001g0058 a0017c0021t0013g0059 a0017c0021t0013g0060 others(1): Show a0001c0001t0001g0058 a0017c0021t0013g0059 a0017c0021t0013g0060 a0020c0029t0022g0061	4	414	0.0097	-21	c.-18 others(36): Show c.-18+171_-18+191delGGAGGAAGGCGACGGGGCGCG	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18			chr5	TogoVar
ERBB4_chr2_211370717_212543802	211524833	CGGTGGGC others(14): Show CGGTGGGCTGAAGGGCTCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG03516.hp1 others(2): Show HG02258.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0024 others(1): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025	a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0012g0001 others(2): Show a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0012g0001 a0001c0001t0024g0038 a0001c0001t0025g0051	5	56	0.0893	-21	c.248 others(42): Show c.2487+37049_2487+37069delTGAGGAGCCCTTCAGCCCACC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622989	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	52	0.0192	-21	c.220 others(38): Show c.2202+912_2202+932delATATATATATATATATATATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211662038	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 NA19240.hp2 HG02895.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0007g0043 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0007g0043	3	6	0.5000	-21	c.187 others(40): Show c.1871+3264_1871+3284delTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211839152	AAGGAGGA others(14): Show AAGGAGGAGGAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02922.hp2 others(3): Show HG01891.hp1 HG02145.hp1 HG02922.hp2 HG02965.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0016 a0001c0004t0021	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0012g0001 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0012g0001 a0001c0002t0001g0020 a0001c0002t0016g0019 a0001c0004t0021g0009	6	11	0.5455	-21	c.422 others(40): Show c.422-51014_422-50994delCCTCCTCCTCCTCCTCCTCCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar

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