Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02976.hp2 HG02486.hp2 HG02717.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244	3	450	0.0067	-20	c.859 others(37): Show c.859-1533_859-1514delTTTTTTTTTTTTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPG5_chr18_45842609_45972329	45937235	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02886.hp1 others(7): Show HG02280.hp2 HG02622.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03471.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2	a0002 a0009 a0018 a0002 a0009 a0018	a0002c0002 a0009c0007 a0018c0042 a0002c0002 a0009c0007 a0018c0042	a0002c0002t0001 a0002c0002t0037 a0009c0007t0007 others(1): Show a0002c0002t0001 a0002c0002t0037 a0009c0007t0007 a0018c0042t0022	a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0037g0295 others(6): Show a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0037g0295 a0009c0007t0007g0006 a0009c0007t0007g0009 a0009c0007t0007g0010 a0009c0007t0007g0011 a0009c0007t0007g0013 a0018c0042t0022g0043	10	304	0.0329	-20	c.210 others(39): Show c.2100-2289_2100-2270delGTGTGTGTGTGTGTGTGTGT		EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	10/43						chr18	TogoVar
EPGN_chr4_74303470_74321789	74309565	GACATTAT others(13): Show GACATTATGGCTACAAGATGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02258.hp1 others(13): Show HG01243.hp2 HG01884.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014	a0001c0001t0006g0011 a0001c0001t0006g0036 a0001c0001t0006g0037 others(3): Show a0001c0001t0006g0011 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0007g0010 a0001c0001t0014g0011	16	366	0.0437	-20	c.133 others(35): Show c.133+387_133+406delTTATGGCTACAAGATGAACA		EPGN	ENSG00000182585.10	transcript	ENST00000413830.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02922.hp2 others(2): Show HG01884.hp2 HG02280.hp2 HG02922.hp2 HG02976.hp2 NA21309.hp2	a0002 a0004 a0030 a0002 a0004 a0030	a0002c0002 a0004c0038 a0030c0030 a0002c0002 a0004c0038 a0030c0030	a0002c0002t0001 a0004c0038t0003 a0030c0030t0002 a0002c0002t0001 a0004c0038t0003 a0030c0030t0002	a0002c0002t0001g0019 a0002c0002t0001g0310 a0002c0002t0001g0311 others(2): Show a0002c0002t0001g0019 a0002c0002t0001g0310 a0002c0002t0001g0311 a0004c0038t0003g0227 a0030c0030t0002g0312	5	382	0.0131	-20	c.149 others(39): Show c.1492-1301_1492-1282delAAAAAAAAAAAAAAAAAAAA		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16						chr1	TogoVar
EPHA10_chr1_37710976_37770120	37765670	TCACACAC others(13): Show TCACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02896.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG02896.hp1 NA19056.hp1	a0001 a0004 a0001 a0004	a0001c0037 a0004c0003 a0001c0037 a0004c0003	a0001c0037t0004 a0004c0003t0003 a0001c0037t0004 a0004c0003t0003	a0001c0037t0004g0130 a0004c0003t0003g0188 a0004c0003t0003g0190 others(1): Show a0001c0037t0004g0130 a0004c0003t0003g0188 a0004c0003t0003g0190 a0004c0003t0003g0192	4	382	0.0105	-20	c.-62 others(29): Show c.-624_-605delTGTGTGTGTGTGTGTGTGTG		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding					551		chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136661	GAAAAGAA others(13): Show GAAAAGAAGAAAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG03540.hp2 others(2): Show HG01109.hp1 HG02622.hp1 HG03540.hp2 NA18990.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002	a0001c0003t0001g0214 a0001c0003t0001g0219 a0001c0004t0001g0028 others(1): Show a0001c0003t0001g0214 a0001c0003t0001g0219 a0001c0004t0001g0028 a0001c0004t0002g0108	5	312	0.0160	-20	c.131 others(37): Show c.1313-911_1313-892delTCTTCTTCTTTTCTTCTTTT		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136693	GAAGAAGA others(13): Show GAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG03139.hp1 others(1): Show HG02572.hp2 HG02970.hp1 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0002c0008t0003 a0001c0001t0001 a0001c0002t0001 a0002c0008t0003	a0001c0001t0001g0081 a0001c0002t0001g0034 a0001c0002t0001g0232 others(1): Show a0001c0001t0001g0081 a0001c0002t0001g0034 a0001c0002t0001g0232 a0002c0008t0003g0111	4	312	0.0128	-20	c.131 others(37): Show c.1313-943_1313-924delTTCTTCTTCTTCTTCTTCTT		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA3_chr3_89102621_89487134	89208423	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	200	0.0050	-20	c.154 others(37): Show c.154-1396_154-1377delAAGAAAGAAAGAAAGAAAGA		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221499738	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19004.hp1 NA18973.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0047 a0001c0002t0001 a0001c0002t0047	a0001c0002t0001g0163 a0001c0002t0047g0229 a0001c0002t0001g0163 a0001c0002t0047g0229	2	294	0.0068	-20	c.979 others(37): Show c.979+1259_979+1278delAATATATATATATATATATA		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	4/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221511456	GTTTCTGT others(13): Show GTTTCTGTACCTCACTTCCGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20129.hp2 HG01243.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0236 a0001c0004t0019g0237 a0001c0004t0019g0236 a0001c0004t0019g0237	2	294	0.0068	-20	c.824 others(39): Show c.824-10304_824-10285delTCGGAAGTGAGGTACAGAAA		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221526852	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00642.hp2 others(30): Show HG00423.hp1 HG00639.hp1 HG00642.hp2 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18963.hp2 NA18965.hp2 NA18972.hp1 NA18999.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0030 a0001c0001t0034 a0001c0001t0039 a0001c0002t0001 a0001c0002t0007 a0001c0002t0023 a0001c0003t0003 a0001c0004t0019	a0001c0001t0001g0006 a0001c0001t0001g0112 a0001c0001t0001g0190 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0112 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0002g0010 a0001c0001t0002g0071 a0001c0001t0002g0178 a0001c0001t0002g0215 a0001c0001t0002g0258 a0001c0001t0004g0291 a0001c0001t0005g0015 a0001c0001t0006g0228 a0001c0001t0008g0117 a0001c0001t0008g0132 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0010g0288 a0001c0001t0011g0241 a0001c0001t0013g0290 a0001c0001t0013g0293 a0001c0001t0017g0098 a0001c0001t0017g0103 a0001c0001t0030g0130 a0001c0001t0034g0243 a0001c0001t0039g0131 a0001c0002t0001g0020 a0001c0002t0007g0239 a0001c0002t0023g0218 a0001c0003t0003g0292 a0001c0004t0019g0236 a0001c0004t0019g0237	33	294	0.1122	-20	c.824 others(39): Show c.824-25700_824-25681delTTTTTTTTTTTTTTTTTTTT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65333530	AGTGTGTG others(13): Show AGTGTGTGTCTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 NA21309.hp2 HG02622.hp1 HG02976.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 a0001c0001 a0001c0006 a0001c0015	a0001c0001t0047 a0001c0006t0044 a0001c0015t0055 a0001c0001t0047 a0001c0006t0044 a0001c0015t0055	a0001c0001t0047g0146 a0001c0006t0044g0038 a0001c0015t0055g0194 a0001c0001t0047g0146 a0001c0006t0044g0038 a0001c0015t0055g0194	3	234	0.0128	-20	c.279 others(39): Show c.2790-1422_2790-1403delACACACACACAGACACACAC		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	15/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65365649	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01099.hp2 others(8): Show HG00323.hp2 HG00733.hp2 HG01099.hp2 HG02486.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp1 NA18522.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0002c0008t0008	a0001c0001t0004g0080 a0001c0001t0008g0019 a0001c0001t0008g0083 others(8): Show a0001c0001t0004g0080 a0001c0001t0008g0019 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0113 a0001c0001t0022g0186 a0001c0001t0022g0189 a0001c0001t0027g0140 a0001c0001t0027g0143 a0001c0001t0031g0001 a0002c0008t0008g0037	11	234	0.0470	-20	c.198 others(37): Show c.1987+263_1987+282delTATATATATATATATATATA		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	10/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65465530	AAGAAAGG others(13): Show AAGAAAGGAAAGGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02738.hp2 HG03239.hp2 others(1): Show HG02698.hp2 HG02738.hp2 HG03239.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0003g0103 a0001c0001t0004g0013 a0001c0001t0004g0080 others(1): Show a0001c0001t0003g0103 a0001c0001t0004g0013 a0001c0001t0004g0080 a0001c0001t0015g0188	4	234	0.0171	-20	c.140 others(41): Show c.1402+24827_1402+24846delCTTTCCTTCCTTTCCTTTCT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574723	TATATATA others(13): Show TATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03540.hp2 NA18906.hp1 HG02055.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0056 a0001c0001t0016 a0001c0002t0056	a0001c0001t0016g0114 a0001c0001t0016g0115 a0001c0002t0056g0214 a0001c0001t0016g0114 a0001c0001t0016g0115 a0001c0002t0056g0214	3	234	0.0128	-20	c.910 others(39): Show c.910+26898_910+26917delGTATATATATATGTATATAT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97187688	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0030 a0001c0002t0024g0031 a0001c0002t0001g0030 a0001c0002t0024g0031	2	82	0.0244	-20	c.111 others(41): Show c.1115-38537_1115-38518delAAGAAAGAAAGAAAGAAAGA		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97492547	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp1 HG02922.hp2 others(5): Show HG00642.hp1 HG02486.hp1 HG02922.hp2 HG03041.hp2 HG03486.hp1 HG03579.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0003t0013 a0001c0003t0027	a0001c0001t0004g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 others(5): Show a0001c0001t0004g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0009g0019 a0001c0001t0009g0076 a0001c0001t0028g0015 a0001c0003t0013g0001 a0001c0003t0027g0003	8	82	0.0976	-20	c.220 others(39): Show c.2200+8516_2200+8535delAAAAAAAAAAAAAAAAAAAA		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97765209	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 NA19240.hp1 HG01175.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0025 a0001c0001t0002 a0001c0002t0025	a0001c0001t0002g0059 a0001c0002t0025g0008 a0001c0001t0002g0059 a0001c0002t0025g0008	2	82	0.0244	-20	c.16 others(33): Show c.16509_*16528delGGGTGTGTGTGTGTGTGTGT		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding					3678		chr3	TogoVar
EPHA7_chr6_93235020_93424559	93405801	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	280	0.0036	-20	c.832 others(37): Show c.832+4680_832+4699delTATATATACACACACACACA		EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	3/16						chr6	TogoVar
EPHA8_chr1_22558489_22608595	22578098	CAGTGTAT others(13): Show CAGTGTATGCATGTGTGCGTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01993.hp1 HG02015.hp1 others(19): Show HG00621.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA19007.hp2 NA19012.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19074.hp1	a0000 a0001 a0000 a0001	a0000c0007 a0001c0001 a0001c0002 a0000c0007 a0001c0001 a0001c0002	a0000c0007t0001 a0001c0001t0001 a0001c0001t0007 others(2): Show a0000c0007t0001 a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0005	a0000c0007t0001g0218 a0001c0001t0001g0017 a0001c0001t0001g0041 others(18): Show a0000c0007t0001g0218 a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0277 a0001c0001t0001g0303 a0001c0001t0007g0099 a0001c0001t0009g0237 a0001c0002t0005g0073	22	342	0.0643	-20	c.823 others(37): Show c.823+1236_823+1255delGTGAGTGTATGCATGTGTGC		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22578382	ATGTATGC others(13): Show ATGTATGCATGTCTGCATGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02572.hp1 HG02647.hp2 others(1): Show HG01099.hp2 HG02572.hp1 HG02647.hp2 HG03471.hp2	a0000 a0001 a0000 a0001	a0000c0007 a0001c0001 a0000c0007 a0001c0001	a0000c0007t0035 a0001c0001t0008 a0000c0007t0035 a0001c0001t0008	a0000c0007t0035g0006 a0001c0001t0008g0006 a0001c0001t0008g0301 a0000c0007t0035g0006 a0001c0001t0008g0006 a0001c0001t0008g0301	4	342	0.0117	-20	c.823 others(37): Show c.823+1521_823+1540delAGTGTATGCATGTCTGCATG		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22578472	ATGTGCAT others(13): Show ATGTGCATGAGTGTGTGCATG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0283 a0001c0006t0005g0283	1	342	0.0029	-20	c.823 others(37): Show c.823+1605_823+1624delTGTGCATGTGTGCATGAGTG		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22579069	GTGTGTGC others(13): Show GTGTGTGCATGTGTACGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01069.hp1 others(30): Show HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01981.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp1 NA18945.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA19057.hp2 NA19058.hp2 NA19068.hp1 NA19087.hp2 NA20805.hp2	a0000 a0001 a0002 others(3): Show a0000 a0001 a0002 a0003 a0004 a0009	a0000c0041 a0000c0042 a0001c0005 others(10): Show a0000c0041 a0000c0042 a0001c0005 a0001c0008 a0001c0009 a0001c0021 a0001c0022 a0001c0046 a0002c0040 a0002c0043 a0003c0047 a0004c0044 a0009c0039	a0000c0041t0001 a0000c0042t0003 a0001c0005t0003 others(16): Show a0000c0041t0001 a0000c0042t0003 a0001c0005t0003 a0001c0005t0020 a0001c0005t0028 a0001c0005t0049 a0001c0008t0006 a0001c0008t0012 a0001c0008t0021 a0001c0009t0003 a0001c0009t0013 a0001c0021t0012 a0001c0022t0004 a0001c0046t0037 a0002c0040t0009 a0002c0043t0002 a0003c0047t0013 a0004c0044t0002 a0009c0039t0003	a0000c0041t0001g0031 a0000c0042t0003g0106 a0001c0005t0003g0032 others(29): Show a0000c0041t0001g0031 a0000c0042t0003g0106 a0001c0005t0003g0032 a0001c0005t0003g0033 a0001c0005t0003g0035 a0001c0005t0003g0036 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0053 a0001c0005t0003g0055 a0001c0005t0020g0042 a0001c0005t0020g0043 a0001c0005t0028g0052 a0001c0005t0049g0039 a0001c0008t0006g0040 a0001c0008t0012g0010 a0001c0008t0021g0034 a0001c0008t0021g0054 a0001c0009t0003g0049 a0001c0009t0013g0044 a0001c0009t0013g0045 a0001c0009t0013g0046 a0001c0021t0012g0104 a0001c0021t0012g0105 a0001c0022t0004g0027 a0001c0022t0004g0028 a0001c0046t0037g0297 a0002c0040t0009g0030 a0002c0043t0002g0298 a0003c0047t0013g0048 a0004c0044t0002g0296 a0009c0039t0003g0310	33	342	0.0965	-20	c.823 others(37): Show c.823+2204_823+2223delCGTGCATGTGTGCATGTGTA		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22579098	TGTGTATG others(13): Show TGTGTATGTGTGCATGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show HG01070.hp2 HG01071.hp2 HG02040.hp1 HG02145.hp2 NA18957.hp2 NA18967.hp2 NA19057.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0017 a0001c0002 a0001c0013 a0001c0017	a0001c0002t0005 a0001c0013t0017 a0001c0017t0008 a0001c0002t0005 a0001c0013t0017 a0001c0017t0008	a0001c0002t0005g0022 a0001c0002t0005g0064 a0001c0013t0017g0306 others(4): Show a0001c0002t0005g0022 a0001c0002t0005g0064 a0001c0013t0017g0306 a0001c0013t0017g0307 a0001c0013t0017g0308 a0001c0017t0008g0304 a0001c0017t0008g0305	8	342	0.0234	-20	c.823 others(37): Show c.823+2237_823+2256delACGTGTATGTGTGCATGTGT		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22589036	GCACCCGC others(13): Show GCACCCGCTTTGTGCCCCAGC	G G	frameshift_variant frameshift_variant	HIGH	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0046 a0010c0024t0046	a0010c0024t0046g0175 a0010c0024t0046g0175	1	342	0.0029	-20	c.114 others(29): Show c.1146_1165delCACCCGCTTTGTGCCCCAGC	p.Thr others(5): Show p.Thr383fs	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	5/17	1293/5019	1146/3018	382/1005			chr1	TogoVar
EPHA8_chr1_22558489_22608595	22599716	AAGGGAGG others(13): Show AAGGGAGGGAGGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(49): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG02027.hp2 HG02145.hp1 HG02257.hp1 HG02615.hp1 HG02683.hp2 HG02809.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18950.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18979.hp1 NA18992.hp1 NA19007.hp1 NA19012.hp1 NA19057.hp1 NA19064.hp1 NA19085.hp1 NA19088.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0017	a0001c0002 a0001c0006 a0001c0013 others(10): Show a0001c0002 a0001c0006 a0001c0013 a0002c0003 a0002c0004 a0002c0037 a0002c0040 a0002c0043 a0004c0012 a0004c0044 a0007c0023 a0008c0034 a0017c0036	a0001c0002t0002 a0001c0002t0039 a0001c0002t0040 others(16): Show a0001c0002t0002 a0001c0002t0039 a0001c0002t0040 a0001c0006t0005 a0001c0013t0017 a0002c0003t0002 a0002c0003t0023 a0002c0003t0043 a0002c0004t0009 a0002c0004t0030 a0002c0004t0041 a0002c0037t0002 a0002c0040t0009 a0002c0043t0002 a0004c0012t0002 a0004c0044t0002 a0007c0023t0002 a0008c0034t0002 a0017c0036t0002	a0001c0002t0002g0012 a0001c0002t0039g0300 a0001c0002t0040g0060 others(44): Show a0001c0002t0002g0012 a0001c0002t0039g0300 a0001c0002t0040g0060 a0001c0006t0005g0207 a0001c0006t0005g0212 a0001c0006t0005g0282 a0001c0006t0005g0283 a0001c0006t0005g0284 a0001c0006t0005g0285 a0001c0006t0005g0286 a0001c0013t0017g0306 a0001c0013t0017g0307 a0001c0013t0017g0308 a0002c0003t0002g0002 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0079 a0002c0003t0002g0082 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0092 a0002c0003t0002g0096 a0002c0003t0002g0097 a0002c0003t0023g0087 a0002c0003t0023g0088 a0002c0003t0043g0182 a0002c0004t0009g0188 a0002c0004t0009g0216 a0002c0004t0009g0287 a0002c0004t0030g0254 a0002c0004t0041g0174 a0002c0037t0002g0078 a0002c0040t0009g0030 a0002c0043t0002g0298 a0004c0012t0002g0007 a0004c0012t0002g0025 a0004c0044t0002g0296 a0007c0023t0002g0012 a0008c0034t0002g0176 a0017c0036t0002g0071	52	342	0.1521	-20	c.238 others(37): Show c.2388+681_2388+700delGAAGGAAGGAGGGAGGGAGG		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134882745	TCTTCCTT others(13): Show TCTTCCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02809.hp2 HG01243.hp2 HG02559.hp1 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0008 a0001c0004 a0001c0005 a0001c0008	a0001c0004t0009 a0001c0005t0001 a0001c0008t0008 a0001c0004t0009 a0001c0005t0001 a0001c0008t0008	a0001c0004t0009g0023 a0001c0005t0001g0025 a0001c0008t0008g0024 a0001c0004t0009g0023 a0001c0005t0001g0025 a0001c0008t0008g0024	3	134	0.0224	-20	c.59- others(37): Show c.59-43067_59-43048delCCTTTCTTCCTTCCTTCCTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22806496	CGGACGGA others(13): Show CGGACGGACGGATGGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0036	1	248	0.0040	-20	c.811 others(39): Show c.811+21424_811+21443delCGGACGGATGGATGGATGGA		EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX2_chr8_27486143_27550564	27487357	ACTCTTCT others(13): Show ACTCTTCTCTTCTCTTCTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02809.hp1 NA18906.hp1 HG02258.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0032 a0001c0004 a0001c0032	a0001c0004t0003 a0001c0032t0003 a0001c0004t0003 a0001c0032t0003	a0001c0004t0003g0340 a0001c0004t0003g0342 a0001c0032t0003g0343 a0001c0004t0003g0340 a0001c0004t0003g0342 a0001c0032t0003g0343	3	374	0.0080	-20	c.-38 others(31): Show c.-3851_-3832delCTCTTCTCTTCTCTTCTCTT		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					3785		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27490699	GACACACA others(13): Show GACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0078 a0001c0005t0002g0080 a0001c0005t0002g0078 a0001c0005t0002g0080	2	374	0.0054	-20	c.-50 others(29): Show c.-509_-490delACACACACACACACACACAC		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					443		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27497948	TCATTTAC others(13): Show TCATTTACTTGACTAAGATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01106.hp1 others(21): Show HG00642.hp1 HG00733.hp1 HG01106.hp1 HG01167.hp1 HG01891.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03669.hp1 HG04115.hp2 NA20905.hp2	a0003 a0003	a0003c0006 a0003c0007 a0003c0035 a0003c0006 a0003c0007 a0003c0035	a0003c0006t0002 a0003c0007t0004 a0003c0007t0012 others(1): Show a0003c0006t0002 a0003c0007t0004 a0003c0007t0012 a0003c0035t0001	a0003c0006t0002g0310 a0003c0006t0002g0311 a0003c0006t0002g0350 others(21): Show a0003c0006t0002g0310 a0003c0006t0002g0311 a0003c0006t0002g0350 a0003c0006t0002g0351 a0003c0006t0002g0352 a0003c0006t0002g0353 a0003c0006t0002g0354 a0003c0006t0002g0356 a0003c0006t0002g0357 a0003c0006t0002g0358 a0003c0006t0002g0359 a0003c0006t0002g0360 a0003c0006t0002g0361 a0003c0007t0004g0312 a0003c0007t0004g0313 a0003c0007t0004g0314 a0003c0007t0004g0315 a0003c0007t0004g0316 a0003c0007t0004g0317 a0003c0007t0004g0319 a0003c0007t0004g0320 a0003c0007t0004g0321 a0003c0007t0012g0318 a0003c0035t0001g0355	24	374	0.0642	-20	c.102 others(37): Show c.102-2955_102-2936delTTTACTTGACTAAGATACCA		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX2_chr8_27486143_27550564	27525095	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18956.hp1 NA18959.hp2 others(3): Show NA18949.hp2 NA18956.hp1 NA18959.hp2 NA18980.hp1 NA19003.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0253 others(3): Show a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0261	6	374	0.0160	-20	c.105 others(37): Show c.1059-265_1059-246delTGTGTGTGTGTGCGCGCGCG		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX3_chr19_15221919_15237448	15223241	ATGAGTGA others(13): Show ATGAGTGAGTGAGTGAGTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	374	0.0027	-20	c.41 others(31): Show c.4176_*4195delCTCACTCACTCACTCACTCA		EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding					3677		chr19	TogoVar
EPN2_chr17_19232366_19341715	19255436	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG06807.hp2 HG03704.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0174 a0001c0001t0001g0194	2	282	0.0071	-20	c.-29 others(41): Show c.-294+17933_-294+17952delATTTATTTATTTATTTATTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384705	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG03041.hp2 HG03225.hp2 others(1): Show HG01257.hp1 HG03041.hp2 HG03225.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0009 a0001c0001t0001g0001 a0002c0002t0001g0009	4	404	0.0099	-20	c.-51 others(29): Show c.-518_-499delGGAAGGAAGGAAGGAAGGAA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					392		chr19	TogoVar
EPRS1_chr1_219963600_220051505	219986960	CAAACGTG others(13): Show CAAACGTGTTACCTATTTTTA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02615.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	3	358	0.0084	-20	c.303 others(37): Show c.3038+162_3038+181delTAAAAATAGGTAACACGTTT		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	20/31						chr1	TogoVar
EPRS1_chr1_219963600_220051505	220020824	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(57): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02132.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp2 HG03453.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp2 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18964.hp2 NA18970.hp2 NA18981.hp1 NA18983.hp1 NA18994.hp1 NA19001.hp2 NA19012.hp1 NA19030.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp1 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0018c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0003c0005t0001 a0018c0026t0002	a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0002g0012 others(56): Show a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0002g0012 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0191 a0001c0002t0001g0003 a0001c0002t0001g0049 a0001c0002t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0124 a0001c0002t0001g0150 a0001c0002t0001g0190 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0188 a0003c0005t0001g0025 a0003c0005t0001g0030 a0018c0026t0002g0086	60	358	0.1676	-20	c.111 others(37): Show c.1116-623_1116-604delTATATATATATATATATATA		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31						chr1	TogoVar
EPS15_chr1_51349263_51524266	51357389	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0063 a0010c0013t0001g0063	1	152	0.0066	-20	c.254 others(37): Show c.2545-563_2545-544delATATATATATATATATATTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51431009	CACACACA others(13): Show CACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0115 a0002c0001t0022g0115	1	152	0.0066	-20	c.104 others(39): Show c.1041-9171_1041-9152delTTGTGTGTGTGTGTGTGTGT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51506812	CAGAATGT others(13): Show CAGAATGTAGAGAACAAACTA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show HG01109.hp2 HG02559.hp2 HG03195.hp1 HG03471.hp2 NA19043.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0015 a0006c0010 a0002c0001 a0004c0015 a0006c0010	a0002c0001t0011 a0004c0015t0011 a0006c0010t0026 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026	a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129	5	152	0.0329	-20	c.33+ others(37): Show c.33+12367_33+12386delTAGTTTGTTCTCTACATTCT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51508186	GAGAAAAG others(13): Show GAGAAAAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02922.hp2 HG01516.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0004 a0001c0006t0001 a0002c0001t0004	a0001c0006t0001g0104 a0002c0001t0004g0025 a0001c0006t0001g0104 a0002c0001t0004g0025	2	152	0.0132	-20	c.33+ others(37): Show c.33+10993_33+11012delTTTCTTTTCTTTTCTTTTCT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS8L2_chr11_701231_732727	720958	CCCGGCAG others(13): Show CCCGGCAGGGGAGGGGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 NA19004.hp1 others(1): Show HG01515.hp2 HG01517.hp1 NA19004.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0023 a0001c0001t0001g0178 a0001c0001t0001g0181	4	406	0.0099	-20	c.557 others(33): Show c.557+72_558-64delGGCAGGGGAGGGGAGGAGCC		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	720985	GGGGAGGG others(13): Show GGGGAGGGGAGGAGCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0354 a0004c0007t0001g0354	1	406	0.0025	-20	c.558 others(33): Show c.558-71_558-52delGAGGAGCCCGGCAGGGAGGG		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42895390	AAGAAAGA others(13): Show AAGAAAGAAACTACAGCCCTC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	352	0.0028	-20	c.816 others(35): Show c.816-302_816-283delGAGGGCTGTAGTTTCTTTCT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	9/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42911264	TGCGCGCG others(13): Show TGCGCGCGCACGCGCGCACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp1 NA18966.hp2 HG00609.hp2 HG01346.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0009 a0001c0003t0038 a0001c0002t0003 a0001c0002t0009 a0001c0003t0038	a0001c0002t0003g0231 a0001c0002t0009g0130 a0001c0003t0038g0172 a0001c0002t0003g0231 a0001c0002t0009g0130 a0001c0003t0038g0172	3	352	0.0085	-20	c.741 others(37): Show c.741+6257_741+6276delGTGTGCGCGCGTGCGCGCGC		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	8/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42989615	ACAGAGTC others(13): Show ACAGAGTCTCACTCTGTCGCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18522.hp2 NA19240.hp1 HG01496.hp2 NA18522.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0014 a0001c0001 a0001c0002 a0006c0014	a0001c0001t0002 a0001c0002t0007 a0006c0014t0002 a0001c0001t0002 a0001c0002t0007 a0006c0014t0002	a0001c0001t0002g0245 a0001c0002t0007g0244 a0006c0014t0002g0243 a0001c0001t0002g0245 a0001c0002t0007g0244 a0006c0014t0002g0243	3	352	0.0085	-20	c.188 others(37): Show c.188+2343_188+2362delGGCGACAGAGTGAGACTCTG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	1/10						chr13	TogoVar
ERAP1_chr5_96769484_96812945	96783836	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0015 a0011c0011t0015	a0011c0011t0015g0332 a0011c0011t0015g0332	1	416	0.0024	-20	c.210 others(35): Show c.2100+68_2100+87delATGTGTGTGTGTGTGTGTGT		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	14/18						chr5	TogoVar
ERAP1_chr5_96769484_96812945	96808184	ATCCGTGT others(13): Show ATCCGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0006 a0009c0009t0006	a0009c0009t0006g0163 a0009c0009t0006g0163	1	416	0.0024	-20	c.-36 others(29): Show c.-362_-343delCACACACACACACACACGGA		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					240		chr5	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00735.hp1 others(16): Show HG00140.hp2 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01175.hp2 HG01361.hp2 HG02148.hp2 HG02622.hp1 HG02683.hp1 HG03041.hp2 NA18982.hp2 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA19007.hp2 NA19011.hp1 NA19062.hp1 NA19087.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0003c0003t0003 a0004c0004t0001 a0005c0005t0005	a0001c0001t0002g0010 a0002c0002t0001g0001 a0002c0002t0001g0016 others(15): Show a0001c0001t0002g0010 a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0245 a0002c0002t0001g0255 a0002c0002t0001g0317 a0002c0002t0001g0320 a0002c0002t0003g0237 a0002c0002t0008g0265 a0003c0003t0003g0194 a0003c0003t0003g0208 a0003c0003t0003g0216 a0004c0004t0001g0279 a0004c0004t0001g0282 a0004c0004t0001g0298 a0004c0004t0001g0300 a0005c0005t0005g0062 a0005c0005t0005g0073	19	416	0.0457	-20	c.-36 others(29): Show c.-365_-346delACACACACACACACACACAC		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96884034	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01256.hp2 others(1): Show HG00140.hp1 HG00735.hp2 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	398	0.0101	-20	c.714 others(35): Show c.714+133_714+152delTATCTATCTATCTATCTATC		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr5	TogoVar

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