Joint Open Genome and Omics Platform (JoGo)

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	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
ERH_chr14_69375128_69403299	69377804	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02922.hp1 HG02965.hp2 others(4): Show HG01257.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156	7	398	0.0176	-14	c.27 others(25): Show c.2720_*2733delTTTTTTTTTTTTTT		ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding					2323		chr14	TogoVar
ERH_chr14_69375128_69403299	69403087	AAAATAAA others(7): Show AAAATAAAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG02071.hp2 others(18): Show HG00323.hp1 HG00544.hp1 HG02071.hp2 HG02132.hp2 NA18747.hp2 NA18945.hp1 NA18964.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18995.hp1 NA19003.hp2 NA19010.hp2 NA19055.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0174 a0001c0001t0001g0175 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0194	21	398	0.0528	-14	c.-48 others(25): Show c.-4868_-4855delATTTATTTTTATTT		ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding					4789		chr14	TogoVar
ERH_chr14_69375128_69403299	69403195	ACACTGTC others(7): Show ACACTGTCTTATGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	398	0.0025	-14	c.-49 others(25): Show c.-4976_-4963delAACATAAGACAGTG		ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding					4897		chr14	TogoVar
ERI1_chr8_8997897_9038338	9007932	ATCCTTTT others(7): Show ATCCTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00673.hp1 others(65): Show HG00140.hp2 HG00423.hp2 HG00673.hp1 HG01099.hp2 HG01109.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp1 NA18962.hp1 NA18965.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA19012.hp2 NA19030.hp1 NA19059.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp1 NA19081.hp1 NA19083.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0000 a0001 a0000 a0001	a0000c0001 a0000c0011 a0001c0002 others(1): Show a0000c0001 a0000c0011 a0001c0002 a0001c0004	a0000c0001t0001 a0000c0001t0005 a0000c0001t0008 others(7): Show a0000c0001t0001 a0000c0001t0005 a0000c0001t0008 a0000c0001t0020 a0000c0001t0021 a0000c0011t0001 a0001c0002t0060 a0001c0004t0004 a0001c0004t0010 a0001c0004t0055	a0000c0001t0001g0009 a0000c0001t0001g0023 a0000c0001t0001g0199 others(62): Show a0000c0001t0001g0009 a0000c0001t0001g0023 a0000c0001t0001g0199 a0000c0001t0001g0201 a0000c0001t0001g0209 a0000c0001t0001g0211 a0000c0001t0001g0212 a0000c0001t0001g0213 a0000c0001t0001g0214 a0000c0001t0001g0215 a0000c0001t0001g0221 a0000c0001t0001g0222 a0000c0001t0001g0223 a0000c0001t0001g0226 a0000c0001t0001g0248 a0000c0001t0001g0250 a0000c0001t0001g0259 a0000c0001t0001g0262 a0000c0001t0001g0263 a0000c0001t0001g0295 a0000c0001t0001g0296 a0000c0001t0005g0118 a0000c0001t0005g0197 a0000c0001t0005g0198 a0000c0001t0005g0200 a0000c0001t0005g0202 a0000c0001t0005g0203 a0000c0001t0005g0204 a0000c0001t0005g0205 a0000c0001t0005g0206 a0000c0001t0005g0207 a0000c0001t0005g0217 a0000c0001t0005g0218 a0000c0001t0005g0220 a0000c0001t0005g0238 a0000c0001t0005g0246 a0000c0001t0005g0247 a0000c0001t0005g0249 a0000c0001t0005g0253 a0000c0001t0005g0257 a0000c0001t0008g0210 a0000c0001t0020g0251 a0000c0001t0020g0255 a0000c0001t0021g0009 a0000c0011t0001g0023 a0001c0002t0060g0297 a0001c0004t0004g0032 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0004g0048 a0001c0004t0004g0216 a0001c0004t0010g0024 a0001c0004t0010g0219 a0001c0004t0010g0230 a0001c0004t0010g0252 a0001c0004t0010g0254 a0001c0004t0055g0208	68	426	0.1596	-14	c.109 others(27): Show c.109-36_109-23delCCTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9027136	GGTGTGTG others(7): Show GGTGTGTGTGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02723.hp2 HG01884.hp2 HG01891.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0039 a0001c0004t0004g0047 a0001c0004t0004g0048 a0001c0004t0004g0039 a0001c0004t0004g0047 a0001c0004t0004g0048	3	426	0.0070	-14	c.808 others(31): Show c.808-2643_808-2630delATGTGTGTGTGTGT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44281878	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 NA20905.hp1 HG01884.hp1 HG02922.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0275 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0275	3	340	0.0088	-14	c.831 others(31): Show c.831+2943_831+2956delCACACACACACACA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44310963	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18939.hp2 NA18951.hp2 others(4): Show HG02148.hp1 NA18939.hp2 NA18951.hp2 NA18975.hp1 NA18995.hp2 NA19012.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0106 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0304	7	340	0.0206	-14	c.666 others(31): Show c.666+2192_666+2205delTGTGTGTGTGTGTG		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342849	ATATATAT others(7): Show ATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	340	0.0029	-14	c.212 others(31): Show c.212-3541_212-3528delAAAAAATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342851	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19009.hp2 NA19078.hp1 others(1): Show NA18954.hp2 NA19009.hp2 NA19078.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0089	4	340	0.0118	-14	c.212 others(31): Show c.212-3543_212-3530delAAAAAAAATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342853	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	340	0.0029	-14	c.212 others(31): Show c.212-3545_212-3532delAAAAAAAAAATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERICH1_chr8_659200_736224	733246	TGGCCAGG others(7): Show TGGCCAGGGAGAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	378	0.0027	-14	c.-20 others(25): Show c.-2099_-2086delTTTTCTCCCTGGCC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding					2023		chr8	TogoVar
ERICH2_chr2_170765378_170803977	170785880	TGTTGTGA others(7): Show TGTTGTGATATCACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	390	0.0051	-14	c.105 others(33): Show c.1056+1050_1056+1063delTGTGATATCACAGT		ERICH2	ENSG00000204334.8	transcript	ENST00000697325.1	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
ERICH5_chr8_98059568_98098609	98079165	CCTTTTTT others(7): Show CCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0002g0133 a0001c0001t0001g0131 a0001c0001t0002g0133	2	442	0.0045	-14	c.59- others(29): Show c.59-9910_59-9897delCTTTTTTTTTTTTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp1 HG01361.hp1 others(7): Show HG00642.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01934.hp2 HG03579.hp1 HG03688.hp2 NA19001.hp2 NA19009.hp1 NA19030.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0004 a0001c0001 a0003c0003 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0005c0004t0001	a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0326 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0366 a0001c0001t0002g0058 a0001c0001t0002g0145 a0001c0001t0002g0152 a0003c0003t0001g0075 a0005c0004t0001g0052	10	442	0.0226	-14	c.59- others(29): Show c.59-3911_59-3898delTTTTTTTTTTTTTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606499	GTATGTGT others(7): Show GTATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03139.hp2 others(1): Show HG01891.hp1 HG02559.hp1 HG03139.hp2 HG03209.hp1	a0002 a0013 a0026 a0002 a0013 a0026	a0002c0002 a0013c0025 a0026c0027 a0002c0002 a0013c0025 a0026c0027	a0002c0002t0001 a0013c0025t0001 a0026c0027t0002 a0002c0002t0001 a0013c0025t0001 a0026c0027t0002	a0002c0002t0001g0134 a0002c0002t0001g0135 a0013c0025t0001g0287 others(1): Show a0002c0002t0001g0134 a0002c0002t0001g0135 a0013c0025t0001g0287 a0026c0027t0002g0024	4	326	0.0123	-14	c.-59 others(31): Show c.-59+1051_-59+1064delTATATATACACATA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14						chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606537	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0018 a0003c0003t0004g0018	1	326	0.0031	-14	c.-59 others(31): Show c.-59+1013_-59+1026delAAAATATATATATA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14						chr13	TogoVar
ERICH6_chr3_150654885_150708920	150660469	AGTGGGGG others(7): Show AGTGGGGGAGGTAGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	348	0.0029	-14	c.172 others(31): Show c.1729-328_1729-315delCCTACCTCCCCCAC		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	13/13						chr3	TogoVar
ERICH6_chr3_150654885_150708920	150702889	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0134 a0002c0001t0001g0134	1	348	0.0029	-14	c.403 others(29): Show c.403+593_403+606delACACACACACACAC		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/13						chr3	TogoVar
ERO1A_chr14_52634915_52700558	52646973	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0214 a0001c0001t0014g0214	1	398	0.0025	-14	c.112 others(31): Show c.1126-526_1126-513delAAAAAAAAAAAAAA		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	13/15						chr14	TogoVar
ERO1A_chr14_52634915_52700558	52647142	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG06807.hp1 NA21309.hp1 HG03471.hp1 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0035 a0001c0001t0006 a0001c0001t0034 a0001c0001t0035	a0001c0001t0006g0143 a0001c0001t0034g0371 a0001c0001t0035g0309 a0001c0001t0006g0143 a0001c0001t0034g0371 a0001c0001t0035g0309	3	398	0.0075	-14	c.112 others(31): Show c.1126-695_1126-682delAAAAAAAAAAAAAA		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	13/15						chr14	TogoVar
ERO1A_chr14_52634915_52700558	52697906	GCCTGCCT others(7): Show GCCTGCCTTGGACTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	398	0.0025	-14	c.-24 others(25): Show c.-2439_-2426delGAGTCCAAGGCAGG		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding					2349		chr14	TogoVar
ERO1B_chr1_236210101_236286958	236239807	GTGTGTAT others(7): Show GTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 NA19030.hp1 others(1): Show HG02976.hp1 HG03516.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0047 a0001c0001t0005 a0001c0001t0047	a0001c0001t0005g0067 a0001c0001t0005g0104 a0001c0001t0005g0272 others(1): Show a0001c0001t0005g0067 a0001c0001t0005g0104 a0001c0001t0005g0272 a0001c0001t0047g0105	4	396	0.0101	-14	c.506 others(31): Show c.506-3423_506-3410delTATATATATACACA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15						chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245316	ATATATAC others(7): Show ATATATACACACACG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02976.hp1 NA20129.hp1 HG00673.hp2 HG02976.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0047 a0001c0001t0002 a0001c0001t0005 a0001c0001t0047	a0001c0001t0002g0091 a0001c0001t0005g0104 a0001c0001t0047g0105 a0001c0001t0002g0091 a0001c0001t0005g0104 a0001c0001t0047g0105	3	396	0.0076	-14	c.432 others(31): Show c.432-1835_432-1822delCGTGTGTGTATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245574	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(21): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01346.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG03831.hp1 HG04184.hp1 HG04228.hp1 NA18951.hp1 NA18967.hp1 NA18970.hp2 NA18980.hp1 NA19009.hp2 NA19057.hp1 NA19083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0036 a0001c0001t0058 a0001c0001t0059 a0006c0010t0001	a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0048 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0262 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0181 a0001c0001t0002g0312 a0001c0001t0019g0369 a0001c0001t0036g0057 a0001c0001t0058g0097 a0001c0001t0059g0098 a0006c0010t0001g0226	24	396	0.0606	-14	c.432 others(31): Show c.432-2093_432-2080delAAAAAAAATATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245576	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0120 a0001c0001t0048g0120	1	396	0.0025	-14	c.432 others(31): Show c.432-2095_432-2082delAAAAAAAAAATATA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ERO1B_chr1_236210101_236286958	236250572	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG03098.hp2 others(7): Show HG02257.hp2 HG02486.hp1 HG03098.hp2 HG03486.hp2 HG03704.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18968.hp2 NA18970.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0007 a0001c0003t0001 a0001c0003t0007 others(3): Show a0001c0001t0007 a0001c0003t0001 a0001c0003t0007 a0001c0003t0018 a0002c0002t0004 a0003c0004t0010	a0001c0001t0007g0342 a0001c0003t0001g0162 a0001c0003t0007g0231 others(7): Show a0001c0001t0007g0342 a0001c0003t0001g0162 a0001c0003t0007g0231 a0001c0003t0018g0217 a0002c0002t0004g0354 a0003c0004t0010g0141 a0003c0004t0010g0142 a0003c0004t0010g0177 a0003c0004t0010g0202 a0003c0004t0010g0206	10	396	0.0253	-14	c.349 others(29): Show c.349-619_349-606delATATATATATATAT		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	4/15						chr1	TogoVar
ERO1B_chr1_236210101_236286958	236263778	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18995.hp2 NA19009.hp1 others(1): Show NA18970.hp2 NA18995.hp2 NA19009.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0001t0001 a0001c0001t0002 a0001c0001t0036	a0001c0001t0001g0056 a0001c0001t0002g0026 a0001c0001t0002g0046 others(1): Show a0001c0001t0001g0056 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0036g0057	4	396	0.0101	-14	c.222 others(31): Show c.222+6083_222+6096delAAAAAAAAAAAAAA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	2/15						chr1	TogoVar
ERP44_chr9_99974185_100104000	100079413	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	220	0.0046	-14	c.58- others(31): Show c.58-19255_58-19242delGTGTGTGTGTGTGT		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11						chr9	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(7): Show TTATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02056.hp1 others(8): Show HG01884.hp1 HG01884.hp2 HG02056.hp1 HG03130.hp1 NA18985.hp2 NA18989.hp1 NA19005.hp2 NA19058.hp2 NA19067.hp2 NA19072.hp1 NA19078.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0011 a0003c0003 others(1): Show a0001c0001 a0001c0011 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0011t0011 a0003c0003t0001 others(2): Show a0001c0001t0002 a0001c0011t0011 a0003c0003t0001 a0004c0004t0003 a0004c0004t0004	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0066 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0066 a0001c0011t0011g0043 a0003c0003t0001g0003 a0004c0004t0003g0005 a0004c0004t0004g0130 a0004c0004t0004g0132	11	458	0.0240	-14	c.17 others(25): Show c.1755_*1768delTATATATATATATA		ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding					912		chr7	TogoVar
ERV3-1_chr7_64985356_65011687	65010289	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18984.hp2 HG02015.hp1 NA18984.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0003 a0001c0001t0002 a0004c0004t0003	a0001c0001t0002g0001 a0004c0004t0003g0005 a0001c0001t0002g0001 a0004c0004t0003g0005	2	458	0.0044	-14	c.-41 others(25): Show c.-4151_-4138delCACACACACACACA		ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding					3603		chr7	TogoVar
ERV3-1_chr7_64985356_65011687	65011673	AGGCCACG others(7): Show AGGCCACGTATGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	458	0.0022	-14	c.-55 others(25): Show c.-5535_-5522delCTCCATACGTGGCC		ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding					4987		chr7	TogoVar
ERVH48-1_chr21_42911803_42930630	42926547	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-14	c.-15 others(25): Show c.-1501_-1488delAAAAAAAAAAAAAA		ERVH48-1	ENSG00000233056.4	transcript	ENST00000447535.2	protein_coding					918		chr21	TogoVar
ESCO1_chr18_21524284_21605704	21579792	GCGCACAC others(7): Show GCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00741.hp1 others(6): Show HG00323.hp1 HG00323.hp2 HG00741.hp1 HG02280.hp1 HG03579.hp1 HG04199.hp2 HG06807.hp2 NA18967.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0002 a0001c0003t0009 a0002c0002t0001	a0001c0001t0001g0103 a0001c0001t0008g0191 a0001c0003t0002g0171 others(6): Show a0001c0001t0001g0103 a0001c0001t0008g0191 a0001c0003t0002g0171 a0001c0003t0002g0175 a0001c0003t0002g0184 a0001c0003t0009g0179 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0261	9	310	0.0290	-14	c.-69 others(33): Show c.-693-4029_-693-4016delTGTGTGTGTGTGCG		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	2/11						chr18	TogoVar
ESCO1_chr18_21524284_21605704	21589841	CCTCTCTT others(7): Show CCTCTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	310	0.0032	-14	c.-82 others(33): Show c.-824-5415_-824-5402delAAAAAAAAAGAGAG		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11						chr18	TogoVar
ESCO1_chr18_21524284_21605704	21594925	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0188 a0001c0003t0002g0188	1	310	0.0032	-14	c.-82 others(33): Show c.-825+5684_-825+5697delCACACACACACACA		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11						chr18	TogoVar
ESF1_chr20_13709325_13789919	13731531	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	390	0.0026	-14	c.195 others(33): Show c.1950+2176_1950+2189delTTTTTTTTTTTTTT		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	10/13						chr20	TogoVar
ESM1_chr5_54972867_54990593	54985255	CCATTAGA others(7): Show CCATTAGAAGGCTGA	C C	frameshift_variant frameshift_variant	HIGH	NA19059.hp2 NA19059.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0027 a0005c0004t0001g0027	1	446	0.0022	-14	c.249 others(21): Show c.249_262delTCAGCCTTCTAATG	p.Cys others(4): Show p.Cys83fs	ESM1	ENSG00000164283.13	transcript	ENST00000381405.5	protein_coding	1/3	338/2096	249/555	83/184			chr5	TogoVar
ESPL1_chr12_53263299_53298638	53273836	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0063 a0006c0006t0001g0063	1	334	0.0030	-14	c.150 others(31): Show c.1507-964_1507-951delTTTTTTTTTTTTTT		ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	6/30					INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPL1_chr12_53263299_53298638	53285021	AAAAAAAG others(7): Show AAAAAAAGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0202 a0003c0004t0003g0202	1	334	0.0030	-14	c.318 others(31): Show c.3187+858_3187+871delAAAGAAGAAAGAAA		ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPNL_chr2_238095340_238138287	238098563	AGGACTGC others(7): Show AGGACTGCCCACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG03471.hp1 HG02004.hp1 HG03471.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0018c0053 a0001c0002 a0018c0053	a0001c0002t0004 a0018c0053t0007 a0001c0002t0004 a0018c0053t0007	a0001c0002t0004g0036 a0018c0053t0007g0208 a0001c0002t0004g0036 a0018c0053t0007g0208	2	408	0.0049	-14	c.-18 others(25): Show c.-1856_-1843delGGACTGCCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1776		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098577	GGGACCGC others(7): Show GGGACCGCCCACATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01109.hp1 others(15): Show HG00423.hp1 HG01106.hp2 HG01109.hp1 HG01433.hp2 HG01496.hp2 HG02027.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03486.hp1 HG03540.hp1 NA18942.hp2 NA19009.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0042	a0001c0005 a0001c0012 a0001c0016 others(11): Show a0001c0005 a0001c0012 a0001c0016 a0001c0018 a0001c0033 a0001c0043 a0002c0031 a0003c0024 a0004c0003 a0005c0007 a0005c0027 a0007c0100 a0011c0088 a0042c0084	a0001c0005t0003 a0001c0012t0003 a0001c0016t0004 others(12): Show a0001c0005t0003 a0001c0012t0003 a0001c0016t0004 a0001c0018t0016 a0001c0033t0004 a0001c0043t0009 a0002c0031t0002 a0003c0024t0001 a0004c0003t0005 a0005c0007t0008 a0005c0027t0001 a0005c0027t0022 a0007c0100t0003 a0011c0088t0006 a0042c0084t0007	a0001c0005t0003g0050 a0001c0012t0003g0045 a0001c0012t0003g0046 others(15): Show a0001c0005t0003g0050 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0048 a0001c0012t0003g0049 a0001c0016t0004g0022 a0001c0018t0016g0215 a0001c0033t0004g0330 a0001c0043t0009g0087 a0002c0031t0002g0272 a0003c0024t0001g0259 a0004c0003t0005g0294 a0005c0007t0008g0051 a0005c0027t0001g0082 a0005c0027t0022g0018 a0007c0100t0003g0225 a0011c0088t0006g0069 a0042c0084t0007g0044	18	408	0.0441	-14	c.-18 others(25): Show c.-1842_-1829delGGACCGCCCACATA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1762		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	AGGACCGC others(7): Show AGGACCGCCCACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01358.hp2 others(4): Show HG00099.hp1 HG01074.hp2 HG01358.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp2	a0001 a0003 a0013 others(3): Show a0001 a0003 a0013 a0014 a0019 a0020	a0001c0002 a0003c0021 a0013c0040 others(3): Show a0001c0002 a0003c0021 a0013c0040 a0014c0039 a0019c0054 a0020c0052	a0001c0002t0004 a0003c0021t0001 a0013c0040t0001 others(3): Show a0001c0002t0004 a0003c0021t0001 a0013c0040t0001 a0014c0039t0003 a0019c0054t0001 a0020c0052t0006	a0001c0002t0004g0240 a0003c0021t0001g0319 a0013c0040t0001g0212 others(4): Show a0001c0002t0004g0240 a0003c0021t0001g0319 a0013c0040t0001g0212 a0014c0039t0003g0207 a0014c0039t0003g0209 a0019c0054t0001g0206 a0020c0052t0006g0210	7	408	0.0172	-14	c.-18 others(25): Show c.-1814_-1801delGGACCGCCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118395	TGGAAGAG others(7): Show TGGAAGAGGGTGGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(125): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0014 a0017 a0018 a0019 a0020 a0021 a0023 a0040 a0041	a0001c0005 a0001c0008 a0001c0028 others(34): Show a0001c0005 a0001c0008 a0001c0028 a0001c0038 a0001c0050 a0001c0127 a0002c0001 a0002c0004 a0002c0011 a0002c0122 a0003c0010 a0003c0013 a0003c0086 a0003c0089 a0004c0003 a0004c0017 a0004c0037 a0005c0007 a0005c0019 a0005c0071 a0005c0087 a0006c0006 a0006c0046 a0006c0051 a0007c0123 a0008c0023 a0011c0124 a0013c0040 a0014c0039 a0017c0125 a0018c0053 a0019c0054 a0020c0052 a0021c0055 a0023c0065 a0040c0093 a0041c0092	a0001c0005t0001 a0001c0005t0003 a0001c0008t0004 others(44): Show a0001c0005t0001 a0001c0005t0003 a0001c0008t0004 a0001c0028t0001 a0001c0038t0004 a0001c0038t0009 a0001c0038t0025 a0001c0050t0009 a0001c0127t0004 a0002c0001t0002 a0002c0001t0020 a0002c0004t0002 a0002c0004t0007 a0002c0011t0002 a0002c0122t0002 a0003c0010t0001 a0003c0010t0012 a0003c0013t0001 a0003c0013t0015 a0003c0086t0006 a0003c0089t0012 a0004c0003t0005 a0004c0017t0005 a0004c0037t0005 a0005c0007t0008 a0005c0019t0001 a0005c0019t0024 a0005c0071t0001 a0005c0087t0001 a0006c0006t0002 a0006c0006t0003 a0006c0046t0008 a0006c0051t0003 a0007c0123t0003 a0008c0023t0010 a0008c0023t0018 a0011c0124t0011 a0013c0040t0001 a0014c0039t0003 a0017c0125t0002 a0018c0053t0007 a0019c0054t0001 a0020c0052t0006 a0021c0055t0003 a0023c0065t0003 a0040c0093t0004 a0041c0092t0013	a0001c0005t0001g0122 a0001c0005t0003g0009 a0001c0005t0003g0050 others(99): Show a0001c0005t0001g0122 a0001c0005t0003g0009 a0001c0005t0003g0050 a0001c0005t0003g0052 a0001c0005t0003g0090 a0001c0005t0003g0098 a0001c0005t0003g0100 a0001c0005t0003g0112 a0001c0005t0003g0113 a0001c0008t0004g0004 a0001c0008t0004g0011 a0001c0008t0004g0024 a0001c0008t0004g0097 a0001c0008t0004g0105 a0001c0028t0001g0190 a0001c0038t0004g0134 a0001c0038t0009g0136 a0001c0038t0025g0146 a0001c0050t0009g0140 a0001c0127t0004g0220 a0002c0001t0002g0001 a0002c0001t0002g0029 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0133 a0002c0001t0002g0137 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0147 a0002c0001t0002g0149 a0002c0001t0002g0151 a0002c0001t0020g0001 a0002c0004t0002g0004 a0002c0004t0002g0010 a0002c0004t0002g0011 a0002c0004t0002g0024 a0002c0004t0002g0043 a0002c0004t0002g0095 a0002c0004t0002g0101 a0002c0004t0002g0106 a0002c0004t0002g0111 a0002c0004t0002g0115 a0002c0004t0007g0055 a0002c0004t0007g0125 a0002c0011t0002g0274 a0002c0122t0002g0150 a0003c0010t0001g0031 a0003c0010t0001g0099 a0003c0010t0001g0116 a0003c0010t0012g0195 a0003c0013t0001g0144 a0003c0013t0001g0228 a0003c0013t0015g0156 a0003c0013t0015g0157 a0003c0086t0006g0114 a0003c0089t0012g0119 a0004c0003t0005g0040 a0004c0017t0005g0011 a0004c0017t0005g0012 a0004c0017t0005g0117 a0004c0017t0005g0121 a0004c0037t0005g0001 a0004c0037t0005g0029 a0005c0007t0008g0008 a0005c0007t0008g0051 a0005c0007t0008g0053 a0005c0019t0001g0013 a0005c0019t0001g0141 a0005c0019t0001g0154 a0005c0019t0001g0158 a0005c0019t0024g0135 a0005c0071t0001g0189 a0005c0087t0001g0054 a0006c0006t0002g0108 a0006c0006t0003g0004 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0006t0003g0102 a0006c0006t0003g0120 a0006c0006t0003g0126 a0006c0046t0008g0088 a0006c0046t0008g0089 a0006c0051t0003g0028 a0007c0123t0003g0145 a0008c0023t0010g0110 a0008c0023t0010g0123 a0008c0023t0010g0127 a0008c0023t0010g0162 a0008c0023t0018g0096 a0011c0124t0011g0155 a0013c0040t0001g0211 a0013c0040t0001g0212 a0014c0039t0003g0207 a0014c0039t0003g0209 a0017c0125t0002g0148 a0018c0053t0007g0208 a0019c0054t0001g0206 a0020c0052t0006g0210 a0021c0055t0003g0124 a0023c0065t0003g0094 a0040c0093t0004g0004 a0041c0092t0013g0107	128	408	0.3137	-14	c.987 others(31): Show c.987+1365_987+1378delAGAGGGTGGACGGA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118537	GGAATGGA others(7): Show GGAATGGATGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0031 a0031	a0031c0121 a0031c0121	a0031c0121t0011 a0031c0121t0011	a0031c0121t0011g0159 a0031c0121t0011g0159	1	408	0.0025	-14	c.987 others(31): Show c.987+1505_987+1518delAATGGATGGAAGAG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118603	AGAGGGTG others(7): Show AGAGGGTGGATGGAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0005 a0004c0026t0005	a0004c0026t0005g0171 a0004c0026t0005g0188 a0004c0026t0005g0171 a0004c0026t0005g0188	2	408	0.0049	-14	c.987 others(31): Show c.987+1588_987+1601delGTGGATGGAGGAGG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118909	GATGGAGG others(7): Show GATGGAGGAGGGTTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01993.hp2 HG02015.hp1 others(7): Show HG01081.hp1 HG01993.hp2 HG02015.hp1 HG02559.hp1 HG02717.hp1 NA18945.hp2 NA18969.hp2 NA18975.hp2 NA19043.hp1 NA19058.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0025	a0001c0016 a0002c0066 a0003c0024 others(4): Show a0001c0016 a0002c0066 a0003c0024 a0003c0119 a0015c0120 a0015c0131 a0025c0075	a0001c0016t0004 a0002c0066t0007 a0003c0024t0001 others(4): Show a0001c0016t0004 a0002c0066t0007 a0003c0024t0001 a0003c0119t0012 a0015c0120t0003 a0015c0131t0003 a0025c0075t0011	a0001c0016t0004g0007 a0001c0016t0004g0080 a0002c0066t0007g0163 others(5): Show a0001c0016t0004g0007 a0001c0016t0004g0080 a0002c0066t0007g0163 a0003c0024t0001g0230 a0003c0119t0012g0160 a0015c0120t0003g0165 a0015c0131t0003g0164 a0025c0075t0011g0200	10	408	0.0245	-14	c.987 others(31): Show c.987+1886_987+1899delGTTAATGGAGGAGG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238119259	GAAATGGA others(7): Show GAAATGGATGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0007 a0002c0066t0007	a0002c0066t0007g0163 a0002c0066t0007g0163	1	408	0.0025	-14	c.987 others(31): Show c.987+2226_987+2239delAAATGGATGAAAGA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8						chr2	TogoVar
ESPNL_chr2_238095340_238138287	238119300	GAAATGGA others(7): Show GAAATGGATGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0007 a0002c0066t0007	a0002c0066t0007g0163 a0002c0066t0007g0163	1	408	0.0025	-14	c.987 others(31): Show c.987+2267_987+2280delAAATGGATGAAGGA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8						chr2	TogoVar
ESPN_chr1_6419776_6465944	6463725	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01071.hp1 others(10): Show HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp1 HG01891.hp1 HG02896.hp2 HG04228.hp1 NA18946.hp1 NA18962.hp1 NA19012.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0001c0002 a0008c0022 others(1): Show a0001c0001 a0001c0002 a0008c0022 a0011c0015	a0001c0001t0001 a0001c0002t0002 a0008c0022t0013 others(1): Show a0001c0001t0001 a0001c0002t0002 a0008c0022t0013 a0011c0015t0002	a0001c0001t0001g0135 a0001c0002t0002g0050 a0001c0002t0002g0051 others(10): Show a0001c0001t0001g0135 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0008c0022t0013g0034 a0011c0015t0002g0064	13	276	0.0471	-14	c.35 others(25): Show c.3580_*3593delAAAAAAAAAAAAAA		ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding					2782		chr1	TogoVar
ESR2_chr14_64223317_64299371	64245509	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0122 a0001c0001t0093g0122	1	368	0.0027	-14	c.122 others(33): Show c.1225+4023_1225+4036delTTTTTTTTTTTTTT		ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	7/8						chr14	TogoVar

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