JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	356	0.0028	30	c.705 others(47): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAGA AA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	356	0.0028	30	c.705 others(47): Show c.705+1035_705+1064dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	356	0.0028	30	c.-14 others(49): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	222	0.0045	30	c.-11 others(49): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA CACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	228	0.0044	30	c.100 others(47): Show c.100-7045_100-7016dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109290710	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0303 a0001c0001t0020g0303	1	318	0.0031	30	c.307 others(49): Show c.307-10790_307-10789insATATATATATATATATATATATATAT ATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109310738	C C	CCACAAGT others(23): Show CCACAAGTGAATGGGTAGGACCGAGTTAAGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	318	0.0031	30	c.306 others(47): Show c.306+9373_306+9402dupTCTTAACTCGGTCCTACCCATTCACTTG TG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41_chr1_28909569_29125041	28921961	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG06807.hp2 NA18946.hp1 others(1): Show HG02129.hp1 HG06807.hp2 NA18946.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0123 a0001c0001t0002g0182 a0001c0001t0002g0183 others(1): Show a0001c0001t0002g0123 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0005g0186	4	312	0.0128	30	c.-8+ others(45): Show c.-8+7194_-8+7195insTATATATATATATATATATATATATATACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp1 HG04184.hp2 HG02809.hp2 HG03490.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0002g0230 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0002g0230	3	312	0.0096	30	c.-8+ others(47): Show c.-8+20671_-8+20700dupACACACACACACACACACACACACACAC AC	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(23): Show ACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02080.hp1 HG00621.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0171 a0001c0001t0001g0005 a0001c0001t0002g0171	2	312	0.0064	30	c.-8+ others(47): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACCC CC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	308	0.0033	30	c.172 others(49): Show c.1720+3236_1720+3237insATATATATATATATATATATATATAT ATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18981.hp1 NA19009.hp2 HG01975.hp2 NA18981.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0161 a0001c0001t0004g0169 a0001c0001t0004g0126 a0001c0001t0004g0161 a0001c0001t0004g0169	3	448	0.0067	30	c.270 others(49): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA2_chr1_16119337_16161069	16136713	A A	AAAGAAGA others(23): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0001 a0013c0029t0001	a0013c0029t0001g0119 a0013c0029t0001g0119	1	312	0.0032	30	c.131 others(47): Show c.1313-973_1313-944dupCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA3_chr3_89102621_89487134	89359768	C C	CACACATA others(23): Show CACACATATATATACATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(46): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00741.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01981.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18960.hp2 NA18981.hp2 NA18982.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19070.hp1 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0003 others(5): Show a0001c0001 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0002c0011 a0002c0013 a0003c0004	a0001c0001t0001 a0001c0008t0001 a0002c0003t0002 others(7): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0005t0005 a0002c0006t0002 a0002c0011t0003 a0002c0013t0005 a0003c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0059 others(46): Show a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0198 a0001c0008t0001g0022 a0001c0008t0001g0030 a0002c0003t0002g0008 a0002c0003t0003g0013 a0002c0003t0003g0015 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0110 a0002c0003t0003g0117 a0002c0003t0003g0120 a0002c0003t0003g0126 a0002c0003t0003g0132 a0002c0003t0003g0172 a0002c0003t0003g0183 a0002c0003t0011g0020 a0002c0005t0005g0081 a0002c0005t0005g0082 a0002c0005t0005g0083 a0002c0005t0005g0084 a0002c0005t0005g0085 a0002c0005t0005g0086 a0002c0005t0005g0090 a0002c0005t0005g0091 a0002c0005t0005g0138 a0002c0006t0002g0148 a0002c0006t0002g0199 a0002c0011t0003g0029 a0002c0013t0005g0036 a0003c0004t0002g0196 a0003c0004t0002g0197	49	200	0.2450	30	c.130 others(51): Show c.1306+17710_1306+17739dupCACATATATATACATATATATACA TATATA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89359780	T T	TACATATA others(23): Show TACATATATACACATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02647.hp2 HG02109.hp1 HG02572.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0001c0001t0020 a0002c0002t0004 a0001c0001t0017 a0001c0001t0020 a0002c0002t0004	a0001c0001t0017g0152 a0001c0001t0020g0153 a0002c0002t0004g0154 a0001c0001t0017g0152 a0001c0001t0020g0153 a0002c0002t0004g0154	3	200	0.0150	30	c.130 others(51): Show c.1306+17699_1306+17700insCACATATATATACATATATACACA TATATA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(23): Show GAGAAGGAGAAGGGGAAGAGGAAGAGGAAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0162 a0001c0001t0048g0162	1	294	0.0034	30	c.159 others(47): Show c.159+1761_159+1762insTCTTCCTCTTCCTCTTCCCCTTCTCCTT CT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp2 HG02572.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0111 a0001c0001t0010g0110 a0001c0001t0002g0111 a0001c0001t0010g0110	2	294	0.0068	30	c.159 others(47): Show c.159+1719_159+1748dupTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(23): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03017.hp2 NA18747.hp1 others(2): Show HG00741.hp2 HG03017.hp2 NA18747.hp1 NA18993.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0023 a0001c0001t0001 a0001c0002t0023	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0256 a0001c0002t0023g0218	5	294	0.0170	30	c.159 others(47): Show c.159+1748_159+1749insTTCTTCTTCTTCTTCTTCTTCTTCCTCT TC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(23): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	294	0.0034	30	c.159 others(47): Show c.159+1748_159+1749insTTCTTCTTCTTCTTCTTCCTCTTCCTCT TC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAGGAAG others(23): Show GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	294	0.0034	30	c.159 others(47): Show c.159+1748_159+1749insTTCTTCTTCTTCTTCTTCTTCTTCTTCC TC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65574701	T T	TATATATA others(23): Show TATATATACATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0010 a0004c0011t0010	a0004c0011t0010g0154 a0004c0011t0010g0154	1	234	0.0043	30	c.910 others(49): Show c.910+26910_910+26939dupGTATATATATGTATATATATATGTAT ATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0011 a0001c0003t0011g0011	1	82	0.0122	30	c.111 others(49): Show c.1114+6740_1114+6741insTATATATATAGAGAGAGAGAGAGAGA GAGA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001016	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	82	0.0122	30	c.111 others(51): Show c.1114+13023_1114+13024insTATATATATATATATATATATATA TATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001017	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp2 HG02055.hp1 others(7): Show HG01243.hp2 HG01256.hp2 HG02055.hp1 HG02257.hp1 HG02559.hp1 HG02965.hp2 HG03486.hp2 HG03579.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(7): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0019 a0001c0002t0020 a0001c0003t0003 a0001c0010t0022	a0001c0001t0005g0017 a0001c0001t0006g0023 a0001c0001t0014g0045 others(7): Show a0001c0001t0005g0017 a0001c0001t0006g0023 a0001c0001t0014g0045 a0001c0002t0001g0022 a0001c0002t0003g0043 a0001c0002t0004g0079 a0001c0002t0019g0006 a0001c0002t0020g0042 a0001c0003t0003g0012 a0001c0010t0022g0050	10	82	0.1220	30	c.111 others(51): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT ATATAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085927	T T	TTGTATAT others(23): Show TTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0032 a0001c0002t0026g0032	1	82	0.0122	30	c.111 others(51): Show c.1114+97934_1114+97935insTGTATATATATATATATATATATA TATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0014 a0001c0009t0007g0014	1	82	0.0122	30	c.111 others(51): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085948	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	82	0.0122	30	c.111 others(51): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATACA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085951	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG03225.hp2 others(1): Show HG02055.hp1 HG02258.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0005t0004 a0001c0006t0021 others(1): Show a0001c0001t0001 a0001c0005t0004 a0001c0006t0021 a0001c0010t0022	a0001c0001t0001g0024 a0001c0005t0004g0046 a0001c0006t0021g0049 others(1): Show a0001c0001t0001g0024 a0001c0005t0004g0046 a0001c0006t0021g0049 a0001c0010t0022g0050	4	82	0.0488	30	c.111 others(51): Show c.1114+97958_1114+97959insTATATATATATATATATATATATA TATATG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(23): Show CCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0049	1	134	0.0075	30	c.59- others(47): Show c.59-43039_59-43038insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	236	0.0042	30	c.231 others(45): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGTGTGTGTGAGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	236	0.0042	30	c.231 others(45): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(23): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	282	0.0036	30	c.766 others(47): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02818.hp2 HG01109.hp2 HG01891.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0316 a0001c0001t0002g0348 a0001c0001t0002g0011 a0001c0001t0002g0316 a0001c0001t0002g0348	3	358	0.0084	30	c.432 others(47): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT AT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51426848	T T	TATATATA others(23): Show TATATATATACACACACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0002 a0002c0001t0012g0002	1	152	0.0066	30	c.104 others(49): Show c.1041-4991_1041-4990insGTGTATATATATATGTGTGTGTATAT ATAT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24			chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55090955	T T	TTATCTCG others(23): Show TTATCTCGAAAATACCTTCTCCCCCTGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0143 a0004c0004t0001g0143	1	340	0.0029	30	c.33 others(41): Show c.3341_*3342insTATCTCGAAAATACCTTCTCCCCCTGCCCC	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding		3033		chr19	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	G G	GTCCCTCT others(23): Show GTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04115.hp1 HG04204.hp2 others(2): Show HG03654.hp1 HG04115.hp1 HG04204.hp2 NA18942.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0011	a0001c0001t0002g0217 a0001c0001t0002g0316 a0001c0002t0003g0228 others(2): Show a0001c0001t0002g0217 a0001c0001t0002g0316 a0001c0002t0003g0228 a0001c0002t0010g0227 a0001c0002t0011g0024	5	352	0.0142	30	c.332 others(47): Show c.332-1570_332-1541dupGAGGGAGAGGGAGAGGGAGAGGGAGAGG GA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0009 a0009c0009t0009	a0009c0009t0009g0156 a0009c0009t0009g0156	1	416	0.0024	30	c.-34 others(39): Show c.-346_-345insACACACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772828	T T	TATACACA others(23): Show TATACACATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	30	c.556 others(49): Show c.556+15196_556+15197insGTGTGTGTATATATATATATATATGT GTAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773615	T T	TATATATA others(23): Show TATATATATATAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	56	0.0179	30	c.556 others(49): Show c.556+14409_556+14410insTATATATATATATATATATTATATAT ATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19240.hp2 HG03834.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0016 a0001c0001t0004g0008 a0001c0001t0002g0016 a0001c0001t0004g0008	2	56	0.0357	30	c.83- others(47): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	56	0.0179	30	c.83- others(49): Show c.83-206169_83-206168insGTGTATATATATATATATATATATAT ATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	30	c.82+ others(49): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212425335	A A	AGGATACA others(23): Show AGGATACATATATATGAACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0004g0003 a0001c0001t0002g0024 a0001c0001t0004g0003	2	56	0.0357	30	c.82+ others(49): Show c.82+113113_82+113114insATACACATATATGTTCATATATATGT ATCC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212425337	G G	GATACATA others(23): Show GATACATATATATGAACATATATGTATATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG02809.hp2 others(7): Show HG01496.hp1 HG02258.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0002t0001	a0001c0001t0002g0047 a0001c0001t0003g0040 a0001c0001t0003g0050 others(7): Show a0001c0001t0002g0047 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0008g0004 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0019g0002 a0001c0002t0001g0048	10	56	0.1786	30	c.82+ others(49): Show c.82+113082_82+113111dupACATATACATATATGTTCATATATAT GTAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212510205	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	56	0.0179	30	c.82+ others(47): Show c.82+28243_82+28244insTATATATATATATATATATATATATATA TA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212511820	A A	AAGTCTAG others(23): Show AAGTCTAGAGATAAGAGATATTGCAGGGTTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0012 a0001c0001t0017	a0001c0001t0012g0001 a0001c0001t0017g0029 a0001c0001t0012g0001 a0001c0001t0017g0029	2	56	0.0357	30	c.82+ others(47): Show c.82+26628_82+26629insCAACCCTGCAATATCTCTTATCTCTAGA CT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65977958	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0299 a0005c0006t0016g0299	1	306	0.0033	30	c.-57 others(49): Show c.-57-10648_-57-10647insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1093942	A A	AATATATA others(23): Show AATATATATATTTTTCTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0133 a0002c0002t0005g0133	1	162	0.0062	30	c.108 others(51): Show c.1086+10373_1086+10402dupTTTTCTATATATATATATATATAT ATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093951	A A	ATTTTTCT others(23): Show ATTTTTCTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0157 a0001c0001t0049g0157	1	162	0.0062	30	c.108 others(51): Show c.1086+10400_1086+10401insTTTTTTCTATATATATATATATAT ATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093957	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0017 a0001c0001t0111g0017	1	162	0.0062	30	c.108 others(51): Show c.1086+10405_1086+10406insTATATATATATATATATATATATA TATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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