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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIP2C_chr10_269201_694668	478331	G G	GAGGAGGG others(97): Show GAGGAGGGGAGGGGAGAGAAGGGAGGGAGGGGAGGGGAGGGGAGGGGAGA GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGA GGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	88	0.0114	104	c.158 others(121): Show c.158-5783_158-5782insTCCCCTCCCCTCCCCTCCTCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCTCTCCCCTCCCCTCCCCTCCCCT CCCTCCCTTCTCTCCCCTCCCCTCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846867	A A	ATATATAT others(97): Show ATATATATATATACACACGTATATATATATATATATACACACGTATATAT ATATATACACACGTATATATATATACACGTATATATATATACATATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	200	0.0050	104	c.474 others(119): Show c.474+315_474+316insCACATATATATATGTATATATATATACGTG TATATATATATACGTGTGTATATATATATATACGTGTGTATATATATATA TATATACGTGTGTATATATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92846867	A A	ATGTATAT others(97): Show ATGTATATATATACACACGTATATATATATATATATACACACGTATATAT ATATATACACACGTATATATATATACACGTATATATATATACATATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	200	0.0050	104	c.474 others(119): Show c.474+315_474+316insCACATATATATATGTATATATATATACGTG TATATATATATACGTGTGTATATATATATATACGTGTGTATATATATATA TATATACGTGTGTATATATATACA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92948643	A A	ATATATAT others(97): Show ATATATATACGTATATATACATATGTGTATATATACGTATATATACATAT GTGTATATATACGTATATATACATATGTGTATATATACGTATATATACAT ATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(19): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG01106.hp2 HG01243.hp1 HG01346.hp1 HG01516.hp2 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02896.hp1 HG02970.hp1 HG03195.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(19): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0090 a0001c0003t0003g0158	22	200	0.1100	104	c.54+ others(121): Show c.54+12732_54+12733insCACATATGTATATATACGTATATATACA CATATGTATATATACGTATATATACACATATGTATATATACGTATATATA CACATATGTATATATACGTATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DLC1_chr8_13078361_13519851	13218856	T T	TTATATAT others(97): Show TTATATATGAATATAATTATATATGATTATATATATAAATATATATAATT ATATATATAAATATATATAATTATTTATATATATATATAAATATATATAA TTATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG03486.hp1 HG02055.hp2 HG02615.hp2 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0011 a0006c0007 a0001c0004 a0001c0011 a0006c0007	a0001c0004t0003 a0001c0011t0003 a0006c0007t0005 a0001c0004t0003 a0001c0011t0003 a0006c0007t0005	a0001c0004t0003g0160 a0001c0011t0003g0007 a0006c0007t0005g0158 a0001c0004t0003g0160 a0001c0011t0003g0007 a0006c0007t0005g0158	3	212	0.0142	104	c.134 others(125): Show c.1348+86412_1348+86413insTATAATTATATATATTTATATATA TATATAAATAATTATATATATTTATATATATAATTATATATATTTATATA TATAATCATATATAATTATATTCATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13218856	T T	TTATATAT others(97): Show TTATATATGAATATAATTATATATGATTATATATATAAATATATATAATT ATATATATATAAATATATATAATTATTTATATATATATAAATATATATAA TTATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(81): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01258.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA19007.hp2 NA19030.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0015	a0001c0001 a0001c0004 a0001c0011 others(17): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002 a0002c0006 a0002c0014 a0002c0042 a0002c0043 a0003c0003 a0003c0030 a0004c0005 a0005c0008 a0005c0012 a0006c0007 a0007c0009 a0008c0010 a0009c0013 a0010c0048 a0013c0024 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0039 a0001c0001t0042 a0001c0004t0003 a0001c0004t0005 a0001c0004t0029 a0001c0011t0003 a0001c0011t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0051 a0002c0006t0003 a0002c0006t0034 a0002c0006t0035 a0002c0006t0049 a0002c0014t0008 a0002c0042t0020 a0002c0043t0001 a0003c0003t0004 a0003c0003t0014 a0003c0030t0004 a0004c0005t0002 a0004c0005t0033 a0004c0005t0038 a0005c0008t0001 a0005c0008t0003 a0005c0008t0016 a0005c0008t0030 a0005c0012t0003 a0006c0007t0001 a0007c0009t0005 a0007c0009t0006 a0008c0010t0013 a0009c0013t0002 a0009c0013t0044 a0010c0048t0007 a0013c0024t0024 a0015c0045t0002	a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0071 others(81): Show a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0002g0072 a0001c0001t0009g0087 a0001c0001t0012g0205 a0001c0001t0012g0207 a0001c0001t0012g0210 a0001c0001t0016g0056 a0001c0001t0039g0073 a0001c0001t0042g0042 a0001c0004t0003g0014 a0001c0004t0003g0050 a0001c0004t0003g0120 a0001c0004t0003g0125 a0001c0004t0005g0200 a0001c0004t0029g0121 a0001c0011t0003g0008 a0001c0011t0003g0049 a0001c0011t0003g0092 a0001c0011t0005g0195 a0002c0002t0001g0085 a0002c0002t0002g0064 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0126 a0002c0002t0010g0013 a0002c0002t0010g0096 a0002c0002t0051g0204 a0002c0006t0003g0114 a0002c0006t0034g0048 a0002c0006t0035g0016 a0002c0006t0049g0206 a0002c0014t0008g0078 a0002c0014t0008g0080 a0002c0014t0008g0095 a0002c0042t0020g0203 a0002c0043t0001g0011 a0003c0003t0004g0131 a0003c0003t0004g0134 a0003c0003t0004g0135 a0003c0003t0004g0137 a0003c0003t0004g0138 a0003c0003t0004g0144 a0003c0003t0004g0147 a0003c0003t0004g0148 a0003c0003t0004g0150 a0003c0003t0004g0155 a0003c0003t0014g0139 a0003c0003t0014g0142 a0003c0003t0014g0151 a0003c0030t0004g0141 a0004c0005t0002g0066 a0004c0005t0002g0112 a0004c0005t0002g0169 a0004c0005t0002g0170 a0004c0005t0002g0172 a0004c0005t0002g0175 a0004c0005t0002g0181 a0004c0005t0033g0184 a0004c0005t0038g0168 a0005c0008t0001g0176 a0005c0008t0001g0182 a0005c0008t0003g0021 a0005c0008t0016g0020 a0005c0008t0030g0171 a0005c0012t0003g0166 a0006c0007t0001g0163 a0006c0007t0001g0164 a0007c0009t0005g0133 a0007c0009t0006g0136 a0007c0009t0006g0146 a0007c0009t0006g0152 a0008c0010t0013g0190 a0009c0013t0002g0165 a0009c0013t0044g0022 a0010c0048t0007g0185 a0013c0024t0024g0025 a0015c0045t0002g0094	84	212	0.3962	104	c.134 others(125): Show c.1348+86412_1348+86413insTATAATTATATATATTTATATATA TATAAATAATTATATATATTTATATATATATAATTATATATATTTATATA TATAATCATATATAATTATATTCATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13218856	T T	TTATATAT others(97): Show TTATATATGAATATAATTATATATGATTATATATATAAATATATATAATT ATATATATATAAATATATATAATTATTTATATATATATATAAATATATAT AATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0002 a0006 a0002 a0006	a0002c0006 a0006c0007 a0002c0006 a0006c0007	a0002c0006t0007 a0006c0007t0017 a0002c0006t0007 a0006c0007t0017	a0002c0006t0007g0201 a0006c0007t0017g0029 a0002c0006t0007g0201 a0006c0007t0017g0029	2	212	0.0094	104	c.134 others(125): Show c.1348+86412_1348+86413insTAATTATATATATTTATATATATA TATAAATAATTATATATATTTATATATATATAATTATATATATTTATATA TATAATCATATATAATTATATTCATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13506595	A A	ATATACAC others(97): Show ATATACACGTATATATATATATATACATATATATATACACGTATATATAT ATATATACATATATATATACACGTATATATATATATATACATATATATAT ACACG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0148 a0003c0003t0004g0148	1	212	0.0047	104	c.-12 others(123): Show c.-125-6400_-125-6399insCGTGTATATATATATGTATATATATA TATATACGTGTATATATATATGTATATATATATATATACGTGTATATATA TATGTATATATATATATATACGTGTATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DNAAF5_chr7_721699_791475	746313	T T	TCCCCCGC others(97): Show TCCCCCGCCCGTCATGCCTAGGGCCTGTGACGCCCTCCTTACCGTCCTGC TGCCCCCCACCCAACATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCT GCTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03927.hp1 HG00099.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0053 a0002c0002t0001g0318 a0001c0004t0001g0053 a0002c0002t0001g0318	2	378	0.0053	104	c.102 others(123): Show c.1024+4865_1024+4866insTAGGGCCTGTGACGCCCTCCTTACCG TCCTGCTGCCCCCCACCCAACATGCCCAGGGCCTGTGACGCCCTCCTTAC CGTCCTGCTGCCCCCCGCCCGTCATGCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF6_chrX_107201611_107249247	107204721	T T	TTTATTTA others(97): Show TTTATTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAAT AAATTATTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAA ATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01433.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0077 a0001c0001t0001g0045 a0001c0001t0001g0077	2	296	0.0068	104	c.-19 others(115): Show c.-1973_-1972insTTATTTAAATAAATTTTAAATAAATTATTTATTT AAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAATAAATTAT TTAAATAAATTTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1889		chrX	TogoVar
DNAH10_chr12_123757301_123940714	123911657	G G	GGGGCATC others(97): Show GGGGCATCTGTCCTGGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCCGGG GGGACTGTCCCGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGGGTCT GTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0072 a0072	a0072c0075 a0072c0075	a0072c0075t0001 a0072c0075t0001	a0072c0075t0001g0124 a0072c0075t0001g0124	1	170	0.0059	104	c.101 others(123): Show c.10134+988_10134+989insCATCTGTCCTGGGAGGTGTCTGTCCT TGGGGGGGGTCTGTCCCGGGGGGACTGTCCCGGGGGGTCTGTCCCGGGGG GTCTGTCCTGGGGGGGGTCTGTCCCGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912064	G G	GGGGGGGG others(97): Show GGGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCT GTCCT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0002 a0006c0026t0002	a0006c0026t0002g0079 a0006c0026t0002g0079	1	170	0.0059	104	c.101 others(125): Show c.10135-1027_10135-1026insTCTGTCCCGGGGGGTCTGTCCCGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG TCTGTCCTGGGGGGGTCTGTCCTGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78541087	C C	CGGGGTGG others(97): Show CGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGGTG AGCGGGGTGGGGGGGTGAGCGGGGTGCGGGGGTGAGCGGGGTGCGGGGGT GAGCG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0161 a0002c0161	a0002c0161t0003 a0002c0161t0003	a0002c0161t0003g0246 a0002c0161t0003g0246	1	252	0.0040	104	c.253 others(123): Show c.2533-1208_2533-1207insCGCTCACCCCCGCACCCCGCTCACCC CCGCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCCACCCCGCTCAC CCCCCCACCCCGCTCACCCCCCCACCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541141	G G	GTGGGGGG others(97): Show GTGGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCG GGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGATGGGGGGGGTGAG CGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0010 a0010	a0010c0212 a0010c0212	a0010c0212t0001 a0010c0212t0001	a0010c0212t0001g0025 a0010c0212t0001g0025	1	252	0.0040	104	c.253 others(123): Show c.2533-1262_2533-1261insTCCCGCTCACCCCCCCCATCCCGCTC ACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCT CACCCCCCCACCCCGCTCACCCCCCCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGATATATATATATATATAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	104	c.29 others(115): Show c.2939_*2940insAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGATA TATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATATATA TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	104	c.29 others(115): Show c.2943_*2944insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATAT ATATATATATATATATATAT	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2847		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGATATATATATATATATATATATATATATATATATATATATATATATA TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	104	c.29 others(115): Show c.2943_*2944insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATAT ATATATATATATATATATAT	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2847		chr11	TogoVar
DOC2B_chr17_137789_186650	140983	T T	TGGTGAGG others(97): Show TGGTGAGGGGACATGGGGGGGACCTGGTGAGGGGACATGGTGAGGGGACA TGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGG GGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	339	0.0030	104	c.64 others(115): Show c.6457_*6458insGGTCCCCTCACCAAGGCTCCCCACCCATGTTCCC CTCACCATGCTCCCCTCACCATGTCCCCTCACCATGTCCCCTCACCAGGT CCCCCCCATGTCCCCTCACC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1805		chr17	TogoVar
DOCK1_chr10_126900428_127457516	127347840	T T	TCCCCTCC others(97): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0005 a0003c0003t0004g0005	1	136	0.0074	104	c.322 others(123): Show c.3224+4094_3224+4095insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51			chr10	TogoVar
DOCK8_chr9_209865_470255	277460	A A	AAGAGAAG others(97): Show AAGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0047 a0047	a0047c0146 a0047c0146	a0047c0146t0001 a0047c0146t0001	a0047c0146t0001g0013 a0047c0146t0001g0013	1	256	0.0039	104	c.156 others(121): Show c.156+5731_156+5732insAGAGAAGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGG	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	2/47			chr9	TogoVar
DOK7_chr4_3458306_3499482	3476318	C C	CCCTCTCA others(97): Show CCCTCTCACCTCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGTGA TGCCCTCTCACCTCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGT GATGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp2 HG02717.hp2 HG03225.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0024 a0010c0013t0025 a0010c0013t0024 a0010c0013t0025	a0010c0013t0024g0325 a0010c0013t0025g0264 a0010c0013t0024g0325 a0010c0013t0025g0264	2	404	0.0050	104	c.332 others(117): Show c.332-19_332-18insCACCTCACCCGCCCATGATGCCCTCTCACCCC ACCCGCCCGTGATGCCCTCTCACCTCACCCGCCCATGATGCCCTCTCACC CCACCCGCCCGTGATGACCTCT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPP6_chr7_154047398_154899285	154749231	G G	GGAGAGGG others(97): Show GGAGAGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGG AGGGAGAGGGATGGCGGCTTTACTGAGAGAGGGTGAGAGAGCATAGGACG GGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01978.hp2 HG02040.hp2 others(3): Show HG01433.hp1 HG01978.hp2 HG02040.hp2 HG02486.hp1 HG03453.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0025 a0002c0004 others(2): Show a0001c0001 a0001c0025 a0002c0004 a0002c0005 a0002c0008	a0001c0001t0005 a0001c0025t0001 a0002c0004t0004 others(3): Show a0001c0001t0005 a0001c0025t0001 a0002c0004t0004 a0002c0005t0015 a0002c0005t0024 a0002c0008t0006	a0001c0001t0005g0032 a0001c0025t0001g0018 a0002c0004t0004g0008 others(3): Show a0001c0001t0005g0032 a0001c0025t0001g0018 a0002c0004t0004g0008 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0008t0006g0034	6	38	0.1579	104	c.884 others(123): Show c.884-20106_884-20105insGGTGAGAGAGCATAGGACGGGAGAGA GAGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGG GAGAGGGATGGCGGCTTTACTGAGAGAG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB14_chr1_46670159_46724114	46702556	G G	GAGAGAAC others(97): Show GAGAGAACATCTCCTACTTCATAGGACTGTAGAAGCCAAGAAAGGAGATC ACATGTGCAGTGCACCTAATAATGGCTGGCACAAAGAAAGCATTTAATGA ATGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	374	0.0027	104	c.480 others(121): Show c.480+5349_480+5350insGCCATTCATTAAATGCTTTCTTTGTGCC AGCCATTATTAGGTGCACTGCACATGTGATCTCCTTTCTTGGCTTCTACA GTCCTATGAAGTAGGAGATGTTCTCT	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	3/10			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(97): Show TTATATATATATATATGTGTGTATATATATATGTATATATATATATATAC ATATATATACACATATATATATACACATATATATACATATATATATATAT ATACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	322	0.0031	104	c.295 others(119): Show c.295-713_295-712insTGTATATATATATATATATGTATATATATG TGTATATATATATGTGTATATATATGTATATATATATATATACATATATA TATACACACATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942378	T T	TATATATA others(97): Show TATATATATATATATGTGTGTATATATATATGTATATATATATATATACA TATATATACACATATATATATACACATATATATACATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19005.hp2 NA18962.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0300 a0001c0001t0001g0301	2	322	0.0062	104	c.295 others(119): Show c.295-714_295-713insGTATATATATATATATATATGTATATATAT GTGTATATATATATGTGTATATATATGTATATATATATATATACATATAT ATATACACACATATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942378	T T	TATATATA others(97): Show TATATATATATATATGTGTGTATATATATATGTATATATATATATATACA TATATATATACACATATATATATACACATATATATACATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18941.hp2 HG02083.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0266 a0001c0001t0001g0275	2	322	0.0062	104	c.295 others(119): Show c.295-714_295-713insGTATATATATATATATATGTATATATATGT GTATATATATATGTGTATATATATATGTATATATATATATATACATATAT ATATACACACATATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942380	T T	TATATATA others(97): Show TATATATATATATGTGTGTATATATATATGTATATATATATATACATATA TATATACACACATATATATATACACATATATATACATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	322	0.0031	104	c.295 others(119): Show c.295-716_295-715insGTATATATATATATATATATGTATATATAT GTGTATATATATATGTGTGTATATATATATGTATATATATATATACATAT ATATATACACACATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942380	T T	TATATATA others(97): Show TATATATATATATGTGTGTATATATATATGTATATATATATATATACATA TATATATACACACATATATATATACACATATATATACATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	322	0.0031	104	c.295 others(119): Show c.295-716_295-715insGTATATATATATATATATGTATATATATGT GTATATATATATGTGTGTATATATATATGTATATATATATATATACATAT ATATATACACACATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942380	T T	TATATATA others(97): Show TATATATATATATGTGTGTATATATATATGTATATATATATATATACATA TATATATACACATATATATATACACATATATATACATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01346.hp1 NA19011.hp2 HG00544.hp1 HG01346.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0285 a0001c0001t0001g0311 a0001c0001t0001g0313	3	322	0.0093	104	c.295 others(119): Show c.295-716_295-715insGTATATATATATATATATATGTATATATAT GTGTATATATATATGTGTATATATATATGTATATATATATATATACATAT ATATATACACACATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942382	T T	TATATATA others(97): Show TATATATATATGTGTGTATATATATATGTATATATATATATATACATATA TATATACACACATATATATATACACATATATATACATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	322	0.0031	104	c.295 others(119): Show c.295-718_295-717insGTATATATATATATATATATGTATATATAT GTGTATATATATATGTGTGTATATATATATGTATATATATATATATACAT ATATATATACACACATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(97): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG GGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	312	0.0032	104	c.178 others(121): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3218298	A A	ACTCTAGA others(97): Show ACTCTAGAGCTTTCACAGTGAGTCAGGTGCACACCCAACACGGCCCTGAT ACACTCTAGAGCTTTCACAGTGAGTCAGGTGCACACCCAACACGGCCCCG ATACG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp2 NA18906.hp2 others(1): Show HG02970.hp2 HG03098.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0092 a0001c0002t0005g0078 a0001c0002t0005g0093 others(1): Show a0001c0002t0001g0092 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	4	250	0.0160	104	c.417 others(121): Show c.417-4051_417-4050insCGTATCGGGGCCGTGTTGGGTGTGCACC TGACTCACTGTGAAAGCTCTAGAGTGTATCAGGGCCGTGTTGGGTGTGCA CCTGACTCACTGTGAAAGCTCTAGAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELL2_chr5_95880098_95966851	95927524	T T	TACACACA others(97): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGA CATAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	314	0.0032	104	c.196 others(121): Show c.196-8083_196-7980dupGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGT GTATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EPRS1_chr1_219963600_220051505	220012857	T T	TTCACATA others(97): Show TTCACATACTTCAACCAGAACAGCTATGTTTCTGTTTTATTTATTGGGGT TTAATTCTGGTAGCACTAAGTGGAGGGGGAAGGACCAGAGGGCCTCCAGA TCCCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	358	0.0028	104	c.149 others(123): Show c.1495-1802_1495-1801insGGGGATCTGGAGGCCCTCTGGTCCTT CCCCCTCCACTTAGTGCTACCAGAATTAAACCCCAATAAATAAAACAGAA ACATAGCTGTTCTGGTTGAAGTATGTGA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	12/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	720943	C C	CGGGGAGG others(97): Show CGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGG GGAGGAGCCCGGCAGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCC CGGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	406	0.0025	104	c.557 others(117): Show c.557+71_557+72insCGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGG GGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGC CCGGCAGGGGAGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCGGCAG others(97): Show GCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGG GGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGA GGAGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 NA20805.hp2 HG01256.hp1 HG01258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0263 a0001c0002t0004g0010 a0001c0001t0001g0263 a0001c0002t0004g0010	3	406	0.0074	104	c.558 others(117): Show c.558-56_558-55insGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGC CCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGG GGAGGGGAGGAGCCCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERC1_chr12_986223_1500931	1121939	C C	CTCTATCT others(97): Show CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	162	0.0062	104	c.156 others(123): Show c.1569+5907_1569+5908insCTATCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(97): Show CCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCGCCCCGCCCCTTCCGCCGC CCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCC CCGCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	378	0.0027	104	c.304 others(121): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAAGGGGCGGGGCGGGG CCGGGGCGGGGCGGGGGAGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(97): Show ATATATATACGTATATATATACACACGTATATATATGTATATATATACAC GTATATATATATGTATATATATATACACGTATATATATATGTATATATAT ACACG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02293.hp2 HG03017.hp2 others(2): Show HG00733.hp1 HG02293.hp2 HG03017.hp2 HG03704.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0323 others(2): Show a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0323 a0001c0001t0003g0331 a0001c0001t0009g0307	5	396	0.0126	104	c.432 others(121): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATATACATATATATATACGTGTATATATATACATATATATA CGTGTGTATATATATACGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(97): Show ATATATATGTATATATATACACGTATATATATATGTATATATATACACAC GTATATATATATGTATATATATACACACGTATATATATATGTATATATAT ACACG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19081.hp2 NA19058.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0289 a0001c0001t0005g0328 a0001c0001t0005g0289 a0001c0001t0005g0328	2	396	0.0051	104	c.432 others(121): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTGTATATATATACATATATATATACGTGTGTATATATATACATATATA TATACGTGTATATATATACATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(97): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATAATTTT ATATGCATATAAAATAATATATATATATTATTTTATATGCATATAAAATA ATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(26): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01168.hp2 HG01433.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02602.hp1 HG02683.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0030 a0001c0004t0001 a0001c0005t0003 a0001c0006t0001 a0001c0010t0002 a0001c0011t0002	a0001c0001t0002g0181 a0001c0001t0003g0077 a0001c0002t0001g0247 others(26): Show a0001c0001t0002g0181 a0001c0001t0003g0077 a0001c0002t0001g0247 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0155 a0001c0002t0003g0136 a0001c0002t0005g0142 a0001c0002t0008g0248 a0001c0002t0009g0239 a0001c0002t0009g0249 a0001c0002t0012g0141 a0001c0002t0014g0138 a0001c0002t0014g0144 a0001c0002t0030g0137 a0001c0004t0001g0051 a0001c0004t0001g0182 a0001c0005t0003g0151 a0001c0006t0001g0140 a0001c0010t0002g0009 a0001c0010t0002g0010 a0001c0011t0002g0041	29	250	0.1160	104	c.643 others(121): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATAATTTTATATGCATATAAAATAATATATATATATTATTTTATATGC ATATAAAATAATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(97): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATATAATT TTATATGCATATAAAATAATATATATATTATTTTATATGCATATAAAATT ATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0159 a0001c0001t0011g0159	1	250	0.0040	104	c.643 others(121): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATAATTTTATATGCATATAAAATAATATATATATTATTTTATATGC ATATAAAATTATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(97): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATATTATT TTATATGCATATAAAATAATATATATATTATTTTATATGCATATAAAATA ATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0076 a0001c0003t0004g0076	1	250	0.0040	104	c.643 others(121): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATTATTTTATATGCATATAAAATAATATATATATTATTTTATATGC ATATAAAATAATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(97): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATTATTTT ATATGCATATAAAATAATATATATATATTATTTTATATGCATATAAAATA ATATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18963.hp1 NA18956.hp2 NA18963.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0003 a0002c0009t0002 a0002c0009t0003	a0002c0009t0002g0201 a0002c0009t0003g0198 a0002c0009t0002g0201 a0002c0009t0003g0198	2	250	0.0080	104	c.643 others(121): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATTATTTTATATGCATATAAAATAATATATATATATTATTTTATATGC ATATAAAATAATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATAAT others(97): Show TATATAATATATCATATATGTGATATATAATATATCATATATGTGATATA TAATATATCATATATGTGATATATAATATATCACATATGTGATATATAAT ATATC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	318	0.0031	104	c.535 others(121): Show c.535-3721_535-3720insGATATATTATATATCACATATGTGATAT ATTATATATCACATATATGATATATTATATATCACATATATGATATATTA TATATCACATATATGATATATTATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATAAT others(97): Show TATATAATATATCATATATGTGATATATAATATATCATATATGTGATATA TAATATATCATATATGTGATATATAATATATCATATATGTGATATATAAT ATATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01358.hp2 others(11): Show HG00408.hp2 HG00544.hp2 HG01358.hp2 HG02135.hp2 HG02895.hp2 HG02897.hp1 HG03704.hp1 NA18944.hp1 NA18961.hp2 NA18968.hp2 NA18973.hp2 NA19004.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001	a0001c0002t0001g0208 a0001c0002t0001g0224 a0001c0002t0001g0233 others(11): Show a0001c0002t0001g0208 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0245 a0001c0002t0001g0263 a0001c0002t0001g0268 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0298 a0001c0002t0002g0283 a0001c0005t0001g0007 a0001c0005t0001g0008	14	318	0.0440	104	c.535 others(121): Show c.535-3721_535-3720insGATATATTATATATCACATATATGATAT ATTATATATCACATATATGATATATTATATATCACATATATGATATATTA TATATCACATATATGATATATTATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATTAT others(97): Show TATATTATATATCATATATGTGATATATAATATATCATATATGTGATATA TAATATATCATATATGTGATATATAATATATCATATATGTGATATATAAT ATATC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	318	0.0031	104	c.535 others(121): Show c.535-3721_535-3720insGATATATTATATATCACATATATGATAT ATTATATATCACATATATGATATATTATATATCACATATATGATATATTA TATATCACATATATGATATATAATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD3_chr9_137301896_137428162	137350578	C C	CTAGATAG others(97): Show CTAGATAGAGAGGGGTGGGGATTACGGGGAAGGTGCTAGATAGAGAGGGG TGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGGA GGGGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	82	0.0122	104	c.149 others(121): Show c.1494+459_1494+460insACCCCTCCCCGTAATCCCCACCCCTCTC TATCTAGCACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCACCTTCC CCGTAATCCCCACCCCTCTCTATCTA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXOC2_chr6_480154_698139	658666	T T	TATATATT others(97): Show TATATATTTTATATATATATATATATATATATATATTTTATATATATATA TATATTTTATATATATATATATATATATATATATTTATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	272	0.0037	104	c.-43 others(123): Show c.-43-20806_-43-20805insTATATATATATATATATATAAATATA TATATATATATATATATATATAAAATATATATATATATATAAAATATATA TATATATATATATATATATAAAATATAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133857124	A A	ATATATAT others(97): Show ATATATATATATATATACGTGTATGTGTATATATATATACACACGTATAT ATATATATACGTATATATATATATACGTATATATATATGTATATATATAT ATACG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0096 a0001c0002t0006g0096	1	102	0.0098	104	c.173 others(125): Show c.1735-38474_1735-38473insATATATATATATATACGTGTATGT GTATATATATATACACACGTATATATATATATACGTATATATATATATAC GTATATATATATGTATATATATATATACGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar

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