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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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
DPEP1_chr16_89608642_89643433	89619511	CTCCCTGC others(30): Show CTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCGCTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	250	0.0040	-37	c.-10 others(56): Show c.-107+5793_-107+5829delTCCCTGCCCCCCTGCTCCCCTCTCTG CAGCCCGCTTT		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPH7_chr9_137549444_137583925	137551669	CGCCCCGC others(30): Show CGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	340	0.0029	-37	c.35 others(48): Show c.3533_*3569delTCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGG GGC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					2774		chr9	TogoVar
DPP9_chr19_4670227_4728842	4670492	TGTCGAGG others(30): Show TGTCGAGGGGGCGGGACTTTTGCCGAGGGGGCGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0234 a0001c0001t0017g0234	1	314	0.0032	-37	c.60 others(48): Show c.6035_*6071delGGCCCCGCCCCCTCGGCAAAAGTCCCGCCCCCTC GAC		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					4734		chr19	TogoVar
DPYD_chr1_97072743_97926034	97724296	GGGGGGGG others(30): Show GGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	52	0.0192	-37	c.322 others(54): Show c.322-2662_322-2626delACACACACACACACACACACACACACCC CCCCCCCCC		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	4/22						chr1	TogoVar
DROSHA_chr5_31395494_31537093	31526688	GGGAAGGG others(30): Show GGGAAGGGTACAAAGTCTGGTCGTGGAGGGAGAAAATT	G G	frameshift_variant frameshift_variant	HIGH	NA19001.hp1 NA19001.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0003 a0008c0036t0003	a0008c0036t0003g0083 a0008c0036t0003g0083	1	322	0.0031	-37	c.208 others(44): Show c.208_244delAATTTTCTCCCTCCACGACCAGACTTTGTACCCTTCC	p.Asn others(4): Show p.Asn70fs	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	5/36	597/5416	208/4125	70/1374			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117577437	TTTCCTTC others(30): Show TTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00738.hp2 others(54): Show HG00280.hp1 HG00558.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 NA18906.hp1 NA18966.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18994.hp2 NA19063.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0008 a0001c0011 others(29): Show a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0021 a0001c0022 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0037 a0001c0051 a0001c0053 a0002c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0002c0032 a0002c0033 a0002c0034 a0002c0058 a0002c0067 a0003c0041 a0003c0044 a0004c0068 a0005c0031	a0001c0005t0003 a0001c0008t0001 a0001c0011t0002 others(41): Show a0001c0005t0003 a0001c0008t0001 a0001c0011t0002 a0001c0011t0003 a0001c0012t0002 a0001c0012t0003 a0001c0013t0004 a0001c0014t0004 a0001c0015t0002 a0001c0016t0002 a0001c0021t0003 a0001c0022t0002 a0001c0026t0004 a0001c0027t0001 a0001c0029t0002 a0001c0030t0003 a0001c0037t0001 a0001c0051t0002 a0001c0053t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0006t0004 a0002c0010t0001 a0002c0010t0002 a0002c0010t0004 a0002c0032t0001 a0002c0033t0003 a0002c0034t0002 a0002c0058t0004 a0002c0067t0001 a0003c0041t0001 a0003c0044t0002 a0004c0068t0001 a0005c0031t0001	a0001c0005t0003g0046 a0001c0005t0003g0080 a0001c0008t0001g0102 others(54): Show a0001c0005t0003g0046 a0001c0005t0003g0080 a0001c0008t0001g0102 a0001c0011t0002g0007 a0001c0011t0002g0026 a0001c0011t0002g0174 a0001c0011t0003g0050 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0012t0003g0094 a0001c0013t0004g0177 a0001c0014t0004g0090 a0001c0014t0004g0143 a0001c0015t0002g0038 a0001c0016t0002g0147 a0001c0021t0003g0141 a0001c0022t0002g0176 a0001c0026t0004g0051 a0001c0027t0001g0012 a0001c0029t0002g0029 a0001c0029t0002g0103 a0001c0030t0003g0183 a0001c0037t0001g0124 a0001c0051t0002g0010 a0001c0053t0001g0024 a0002c0001t0001g0042 a0002c0001t0002g0039 a0002c0001t0003g0119 a0002c0001t0004g0082 a0002c0001t0004g0139 a0002c0002t0001g0182 a0002c0002t0002g0028 a0002c0002t0004g0086 a0002c0003t0001g0079 a0002c0003t0001g0107 a0002c0003t0002g0074 a0002c0003t0002g0169 a0002c0003t0002g0191 a0002c0003t0004g0077 a0002c0003t0004g0161 a0002c0004t0001g0037 a0002c0004t0002g0017 a0002c0004t0002g0081 a0002c0004t0002g0168 a0002c0006t0004g0041 a0002c0010t0001g0166 a0002c0010t0002g0018 a0002c0010t0004g0058 a0002c0032t0001g0033 a0002c0033t0003g0059 a0002c0034t0002g0171 a0002c0058t0004g0091 a0002c0067t0001g0108 a0003c0041t0001g0097 a0003c0044t0002g0030 a0004c0068t0001g0146 a0005c0031t0001g0101	57	194	0.2938	-37	c.512 others(56): Show c.512-44952_512-44916delGGAAGGAAGGAAGGAAAGGAAGGAAG GAAGGAAGGAA		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DST_chr6_56452996_56959830	56720886	TGGCGGCC others(30): Show TGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCAGATGG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG02280.hp1 others(5): Show HG01358.hp2 HG01884.hp1 HG02280.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1	a0006 a0007 a0008 others(2): Show a0006 a0007 a0008 a0015 a0031	a0006c0007 a0007c0053 a0008c0049 others(3): Show a0006c0007 a0007c0053 a0008c0049 a0008c0052 a0015c0012 a0031c0054	a0006c0007t0001 a0007c0053t0001 a0008c0049t0001 others(3): Show a0006c0007t0001 a0007c0053t0001 a0008c0049t0001 a0008c0052t0001 a0015c0012t0001 a0031c0054t0001	a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0071 others(5): Show a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0071 a0007c0053t0001g0049 a0008c0049t0001g0020 a0008c0052t0001g0022 a0015c0012t0001g0062 a0031c0054t0001g0028	8	84	0.0952	-37	c.687 others(56): Show c.687+14305_687+14341delCCATCTGGGAAGTGAGGAGCCCCTCT GCCCGGCCGCC		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103						chr6	TogoVar
DUSP13_chr10_75089436_75104512	75100801	GGTCACTC others(30): Show GGTCACTCCCCCGTTTGCCTCTGTCTCCCATCCTCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-37	c.-14 others(48): Show c.-1401_-1365delGGGGAGGATGGGAGACAGAGGCAAACGGGGGAGT GAC		DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding					1290		chr10	TogoVar
DUSP14_chr17_37484891_37518498	37509232	CTATATAC others(30): Show CTATATACACACTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	421	0.0024	-37	c.-18 others(56): Show c.-180-1438_-180-1402delCACACTATATATATATATATATATAT ATATATATATA		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP8_chr11_1549051_1577271	1550452	TCCCTCCC others(30): Show TCCCTCCCTCTCATTTACCCATTCTTCCACCTCCTATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0032 a0009c0023t0032	a0009c0023t0032g0152 a0009c0023t0032g0152	1	367	0.0027	-37	c.60 others(48): Show c.6029_*6065delGATAGGAGGTGGAAGAATGGGTAAATGAGAGGGA GGG		DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding					3598		chr11	TogoVar
DUXA_chr19_57149021_57172485	57171956	GCTGGGGT others(30): Show GCTGGGGTCCGGGGAGCGCGAGCGGGGGTCCGGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	446	0.0022	-37	c.-45 others(48): Show c.-4550_-4514delGCCCCCCGGACCCCCGCTCGCGCTCCCCGGACCC CAG		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4472		chr19	TogoVar
DUXB_chr16_75688893_75706461	75696763	GCTTCTGA others(30): Show GCTTCTGAGCTAAGAGATGTTGATGCAGAATTTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	422	0.0024	-37	c.286 others(50): Show c.286+38_286+74delTGCCCAAATTCTGCATCAACATCTCTTAGCTC AGAAG		DUXB	ENSG00000282757.4	transcript	ENST00000633875.4	protein_coding	3/4						chr16	TogoVar
DYNC1I1_chr7_95767554_96103424	96097354	TTCCTTTA others(30): Show TTCCTTTACATTCCAAGGGAAACATCTGCTTTGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	230	0.0044	-37	c.177 others(53): Show c.1777-127_1777-91delCCTTTACATTCCAAGGGAAACATCTGCTT TGGAGGGT		DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
DZIP1L_chr3_138056990_138120608	138091673	GAGGGAGG others(30): Show GAGGGAGGGAGGAAGGAAGGAAGGAGAGGGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	312	0.0032	-37	c.870 others(52): Show c.870+673_870+709delTTCTCTCTCCCTCTCCTTCCTTCCTTCCTC CCTCCCT		DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	5/15						chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633875	ATCTCTCT others(30): Show ATCTCTCTGGATCTATCAGAATACTTCTGATAGATCTC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02717.hp1 HG02976.hp1 others(1): Show HG00735.hp2 HG02717.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 others(1): Show a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307	4	318	0.0126	-37	c.816 others(52): Show c.816+877_817-886delCTCTCTCTGGATCTATCAGAATACTTCTGA TAGATCT		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
EFHC1_chr6_52415342_52502198	52485446	GGATATGG others(30): Show GGATATGGTTTGTTTGGCCCCAGCAAGCTATGGTTTTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG01891.hp2 HG02717.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0050 a0001c0010t0052 a0001c0010t0050 a0001c0010t0052	a0001c0010t0050g0204 a0001c0010t0052g0207 a0001c0010t0050g0204 a0001c0010t0052g0207	2	396	0.0051	-37	c.164 others(56): Show c.1641-4672_1641-4636delGCAAGCTATGGTTTTAGATATGGTTT GTTTGGCCCCA		EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44316885	AAGACCGT others(30): Show AAGACCGTCATTACAACAGTTACTACTGTTAGTACTTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	221	0.0045	-37	c.43- others(52): Show c.43-4166_43-4130delCAAGTACTAACAGTAGTAACTGTTGTAATG ACGGTCT		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	1/14						chrX	TogoVar
EHD2_chr19_47708422_47748134	47718862	TGGGGTCT others(30): Show TGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19030.hp1 HG02572.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0168 a0001c0002t0004g0169 a0001c0002t0002g0168 a0001c0002t0004g0169	2	398	0.0050	-37	c.502 others(52): Show c.502+260_502+296delGTCTGGACTCCTGGGTCTGAGGGAGGAGGA GCTGGGG		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137723194	TGTGGTTC others(30): Show TGTGGTTCTGGGCCTGAGCCCGGGGTGTGCCTGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 NA19240.hp1 HG02970.hp2 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0008 a0001c0004 a0001c0006 a0001c0008	a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001	a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156 a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156	3	170	0.0177	-37	c.643 others(54): Show c.643-5118_643-5082delCGTGGTTCTGGGCCTGAGCCCGGGGTGT GCCTGTGTC		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3H_chr8_116637130_116760823	116752731	AGAAGAGA others(30): Show AGAAGAGAAAGAAAGAAAGAAAGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0322 a0001c0001t0007g0322	1	336	0.0030	-37	c.132 others(54): Show c.132+2898_132+2934delCCTCCCTCCCTCCCTCTTTCTTTCTTTC TTTCTCTTC		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7						chr8	TogoVar
EIF4G3_chr1_20801479_21181897	20816124	AGCCGCCC others(30): Show AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp1 NA18964.hp1 others(2): Show HG01928.hp2 HG01993.hp1 NA18964.hp1 NA19054.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0123 a0001c0001t0001g0174 a0001c0001t0001g0175 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0008g0301	5	312	0.0160	-37	c.451 others(56): Show c.4515+1231_4515+1267delCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGC		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36						chr1	TogoVar
EIPR1_chr2_3183970_3382818	3311355	TGATTTCT others(30): Show TGATTTCTTTTCACATTAAAAAAAAATATTTTTAGAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	250	0.0040	-37	c.259 others(56): Show c.259+26625_259+26661delTTTCTAAAAATATTTTTTTTTAATGT GAAAAGAAATC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315261	ATCACCAC others(30): Show ATCACCACCATCCCCATACACACCCCCTACCACCATCC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	250	0.0040	-37	c.259 others(56): Show c.259+22719_259+22755delGGATGGTGGTAGGGGGTGTGTATGGG GATGGTGGTGA		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315814	CTCACCAC others(30): Show CTCACCACCATCCCCATACACACCCCCTACCACCACCA	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	250	0.0040	-37	c.259 others(56): Show c.259+22166_259+22202delTGGTGGTGGTAGGGGGTGTGTATGGG GATGGTGGTGA		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315947	CCCCCTAC others(30): Show CCCCCTACCACCACCATCACCACCATCCCCATCCACAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	250	0.0040	-37	c.259 others(56): Show c.259+22033_259+22069delCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELFN2_chr22_37362960_37432479	37399483	CCACCTCT others(30): Show CCACCTCTCCCACCTCCACCGACCACGGGGACCACCAG	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0004 a0005c0014t0004	a0005c0014t0004g0032 a0005c0014t0004g0032	1	334	0.0030	-37	c.-46 others(58): Show c.-463+18249_-463+18285delCTGGTGGTCCCCGTGGTCGGTGGA GGTGGGAGAGGTG		ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2						chr22	TogoVar
ELOC_chr8_73940119_73977191	73975553	AGGTATTT others(30): Show AGGTATTTTCCTCCACTGTTTAAGCACTGTGGATTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	404	0.0025	-37	c.-35 others(48): Show c.-3564_-3528delGGGAATCCACAGTGCTTAAACAGTGGAGGAAAAT ACC		ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding					3363		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	11043430	CACAGCTT others(30): Show CACAGCTTACTGTCAGGCAGTTCATCGGACACGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 HG03453.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0203 a0002c0004t0016g0204 a0002c0004t0016g0203 a0002c0004t0016g0204	2	380	0.0053	-37	c.3+7 others(48): Show c.3+761_3+797delTCACCCGTGTCCGATGAACTGCCTGACAGTAAGC TGT		ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7						chr6	TogoVar
ELSPBP1_chr19_47989632_48030154	48023488	GAGGGAGG others(30): Show GAGGGAGGGAAGGAAAAGAGGAAGGAAATAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00639.hp1 others(29): Show HG00099.hp1 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG02109.hp2 HG02145.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18977.hp2 NA18993.hp1 NA19082.hp2 NA19240.hp2	a0002 a0008 a0015 a0002 a0008 a0015	a0002c0002 a0008c0009 a0015c0016 a0002c0002 a0008c0009 a0015c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0008c0009t0002 a0015c0016t0002	a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0053 others(29): Show a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0083 a0002c0002t0001g0261 a0002c0002t0001g0272 a0002c0002t0001g0337 a0002c0002t0001g0340 a0002c0002t0001g0355 a0002c0002t0001g0373 a0002c0002t0002g0128 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0155 a0002c0002t0002g0196 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0242 a0002c0002t0009g0263 a0008c0009t0002g0164 a0008c0009t0002g0187 a0015c0016t0002g0138 a0015c0016t0002g0146	32	388	0.0825	-37	c.7+ others(52): Show c.7+1162_*7+1198delGAAGGAAAAGAGGAAGGAAATAAGGAAGGA AGGGAGG		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
EML5_chr14_88607431_88797953	88796577	TTATATAT others(30): Show TTATATATAATATATATTATATGTTATATATGTTATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG03098.hp2 HG03139.hp2 others(1): Show HG02040.hp1 HG03098.hp2 HG03139.hp2 NA18980.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0017 a0002c0002t0003 a0004c0007t0016 a0001c0001t0017 a0002c0002t0003 a0004c0007t0016	a0001c0001t0017g0011 a0002c0002t0003g0031 a0004c0007t0016g0007 others(1): Show a0001c0001t0017g0011 a0002c0002t0003g0031 a0004c0007t0016g0007 a0004c0007t0016g0008	4	332	0.0121	-37	c.-41 others(48): Show c.-4111_-4075delGTATAACATATATAACATATAATATATATTATAT ATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3625		chr14	TogoVar
ENAH_chr1_225481829_225658123	225615525	CCCTCTTC others(30): Show CCCTCTTCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0108 a0001c0001t0066g0108	1	308	0.0033	-37	c.5+3 others(52): Show c.5+37124_5+37160delCGCTCCTCACTTCCCAGACTGGGCGGCCGG GAAGAGG		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13						chr1	TogoVar
ENOSF1_chr18_665318_717630	666974	GAGATGGA others(30): Show GAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0036 a0003c0004t0036	a0003c0004t0036g0364 a0003c0004t0036g0364	1	418	0.0024	-37	c.72 others(48): Show c.7294_*7330delACCATCACCATCTCCATCACCATCACCATCTCCA TCT		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3343		chr18	TogoVar
ENTPD8_chr9_137429364_137446357	137440522	CCCCCCAG others(30): Show CCCCCCAGACCAGGACAGCCCCCCCCAGACCAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG02723.hp2 others(1): Show HG01123.hp1 HG02109.hp1 HG02723.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0001 a0001c0001t0001 a0001c0022t0001	a0001c0001t0001g0024 a0001c0022t0001g0159 a0001c0001t0001g0024 a0001c0022t0001g0159	4	392	0.0102	-37	c.-21 others(52): Show c.-21+727_-21+763delCTCTCCTGGTCTGGGGGGGGCTGTCCTGGT CTGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440927	GCCCCCCC others(30): Show GCCCCCCCAGACCAGGACACCCCCTCAGACAGAACAGT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18983.hp1 NA19067.hp2 others(1): Show NA18942.hp1 NA18983.hp1 NA19067.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0036 a0001c0001t0001g0109 a0003c0003t0002g0066 a0001c0001t0001g0036 a0001c0001t0001g0109 a0003c0003t0002g0066	4	392	0.0102	-37	c.-21 others(52): Show c.-21+322_-21+358delACTGTTCTGTCTGAGGGGGTGTCCTGGTCT GGGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440964	TCCCCCAG others(30): Show TCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0128 a0001c0006t0001g0128	1	392	0.0026	-37	c.-21 others(52): Show c.-21+285_-21+321delGCTGTCCTGGTCTGGGGGGGCTGTCCTGGT CTGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
EP300_chr22_41087592_41185077	41167581	TGTGTATA others(30): Show TGTGTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0001 a0001c0004t0007g0001	1	300	0.0033	-37	c.387 others(54): Show c.3875-867_3875-831delGTGTATATATATATATATATATATATAT ATATATATA		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30						chr22	TogoVar
EPS8L1_chr19_55070869_55092923	55071499	TAGCCCCT others(30): Show TAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01167.hp2 others(18): Show HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01981.hp2 HG02109.hp2 HG02145.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp2 NA18906.hp2 NA18948.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0131 a0004c0004t0001g0009 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0109 a0004c0004t0001g0142	21	340	0.0618	-37	c.-44 others(48): Show c.-4457_-4421delAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCC		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding					4369		chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55071522	GGAGTCCA others(30): Show GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02723.hp2 others(3): Show HG02055.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp2 HG03195.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0002 a0005c0005 a0008c0013 a0002c0002 a0005c0005 a0008c0013	a0002c0002t0001 a0005c0005t0001 a0008c0013t0001 a0002c0002t0001 a0005c0005t0001 a0008c0013t0001	a0002c0002t0001g0035 a0005c0005t0001g0040 a0005c0005t0001g0084 others(2): Show a0002c0002t0001g0035 a0005c0005t0001g0040 a0005c0005t0001g0084 a0005c0005t0001g0086 a0008c0013t0001g0085	6	340	0.0177	-37	c.-44 others(48): Show c.-4434_-4398delGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAA		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding					4346		chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078283	AGAGGGGC others(30): Show AGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG01167.hp1 others(20): Show HG00438.hp2 HG00735.hp1 HG01167.hp1 HG01192.hp1 HG01934.hp1 HG01952.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02148.hp1 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18989.hp2 NA19066.hp2 NA19074.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0029 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0150	23	340	0.0677	-37	c.58+ others(50): Show c.58+169_58+205delGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCT GGGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078371	CCTGGACT others(30): Show CCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01981.hp2 others(8): Show HG01123.hp2 HG01167.hp2 HG01981.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 NA18948.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0009 a0004c0004t0001g0105 a0004c0004t0001g0107 others(4): Show a0004c0004t0001g0009 a0004c0004t0001g0105 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0142 a0004c0004t0001g0143	11	340	0.0324	-37	c.58+ others(50): Show c.58+428_59-407delGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078630	GCTGGACT others(30): Show GCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02257.hp1 HG03688.hp1 others(1): Show HG02004.hp2 HG02257.hp1 HG03688.hp1 NA19066.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0003c0003 a0012c0010 a0002c0002 a0003c0003 a0012c0010	a0002c0002t0001 a0003c0003t0001 a0012c0010t0001 a0002c0002t0001 a0003c0003t0001 a0012c0010t0001	a0002c0002t0001g0058 a0002c0002t0001g0072 a0003c0003t0001g0168 others(1): Show a0002c0002t0001g0058 a0002c0002t0001g0072 a0003c0003t0001g0168 a0012c0010t0001g0167	4	340	0.0118	-37	c.59- others(50): Show c.59-295_59-259delCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078741	TCTGGACT others(30): Show TCTGGACTCCTGGGTCAGAGGGAGGAGGGGCTGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	340	0.0029	-37	c.59- others(50): Show c.59-235_59-199delGGAGGGGCTGGGGGGCTGGACTCCTGGGTCAG AGGGA		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078838	GGAGGGGC others(30): Show GGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02257.hp1 HG02004.hp2 HG02257.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0012c0010 a0003c0003 a0012c0010	a0003c0003t0001 a0012c0010t0001 a0003c0003t0001 a0012c0010t0001	a0003c0003t0001g0168 a0012c0010t0001g0167 a0003c0003t0001g0168 a0012c0010t0001g0167	2	340	0.0059	-37	c.59- others(50): Show c.59-147_59-111delCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	56	0.0179	-37	c.235 others(56): Show c.235-67463_235-67427delATATATATATATATATATATATATAT ATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212079536	TAATAACC others(30): Show TAATAACCATTTCAATAACTTAATATAAGGGTTATTGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG03486.hp1 HG01891.hp1 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0002t0016 a0001c0001t0003 a0001c0001t0012 a0001c0002t0016	a0001c0001t0003g0017 a0001c0001t0012g0001 a0001c0002t0016g0019 a0001c0001t0003g0017 a0001c0001t0012g0001 a0001c0002t0016g0019	3	56	0.0536	-37	c.234 others(56): Show c.234+45179_234+45215delTCAATAACCCTTATATTAAGTTATTG AAATGGTTATT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERC2_chr3_55503311_56473467	55720198	TCTTCTTC others(30): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	74	0.0135	-37	c.271 others(58): Show c.2712+14536_2712+14572delGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720206	TTCTTCTT others(30): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03540.hp1 others(1): Show HG02723.hp1 HG02809.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0012 a0001c0001t0003g0044 a0001c0002t0001g0006 others(1): Show a0001c0001t0002g0012 a0001c0001t0003g0044 a0001c0002t0001g0006 a0001c0002t0001g0017	4	74	0.0541	-37	c.271 others(58): Show c.2712+14528_2712+14564delGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERI3_chr1_44216070_44360257	44234190	CCAATAAT others(30): Show CCAATAATTTCTAGGAGCTTTAATTACCATATATTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02895.hp1 others(1): Show HG01243.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226	4	340	0.0118	-37	c.932 others(56): Show c.932-12587_932-12551delAAAAATATATGGTAATTAAAGCTCCT AGAAATTATTG		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	8/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342831	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	340	0.0029	-37	c.212 others(54): Show c.212-3546_212-3510delAAAAAAAAAAATATATATATATATATAT ATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ESCO2_chr8_27769554_27810316	27802620	AAAAAAAA others(30): Show AAAAAAAAAAAATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp1 HG02809.hp2 others(3): Show HG00738.hp1 HG02280.hp1 HG02809.hp2 HG02818.hp2 HG03225.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0035 a0001c0001t0007 a0001c0001t0020 a0001c0001t0035	a0001c0001t0007g0075 a0001c0001t0020g0023 a0001c0001t0020g0056 others(3): Show a0001c0001t0007g0075 a0001c0001t0020g0023 a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0020g0058 a0001c0001t0035g0023	6	380	0.0158	-37	c.167 others(54): Show c.1674-684_1674-648delAAAAAAAAAATATATATATATATATATA TATATATTA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 1847 hits)