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
DYNC2I1_chr7_158851558_158951189	158947000	A A	ACCCGAGC others(12): Show ACCCGAGCAACCGCCAGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	274	0.0037	19	c.12 others(30): Show c.1221_*1222insCCCGAGCAACCGCCAGCCT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		812		chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02273.hp1 HG03453.hp2 others(4): Show HG02056.hp1 HG02273.hp1 HG03453.hp2 NA18949.hp2 NA18977.hp1 NA19077.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0177 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0254 a0001c0002t0001g0248	7	368	0.0190	19	c.186 others(36): Show c.186+1187_186+1205dupTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	294	0.0034	19	c.9-9 others(30): Show c.9-916_9-898dupTTTTTTTTTTTTTTTTTTT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	19	c.75 others(28): Show c.757_*758insAAAAAAATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA19000.hp2 NA18612.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	19	c.75 others(28): Show c.756_*757insTATATATATATATATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37417506	C C	CTTTTTCT others(12): Show CTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0326 a0001c0001t0142g0326	1	350	0.0029	19	c.-76 others(36): Show c.-76-2789_-76-2788insTCTTTTTCTTTTTCTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37417529	C C	CTTTTTCT others(12): Show CTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp1 HG01258.hp1 others(15): Show HG00597.hp2 HG01256.hp1 HG01258.hp1 HG02080.hp1 HG02165.hp2 HG02293.hp2 HG03017.hp2 HG03579.hp2 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp1 NA18980.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0051 a0001c0001t0124 a0001c0001t0127 a0001c0001t0129	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0187 others(14): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0237 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0010g0336 a0001c0001t0027g0331 a0001c0001t0034g0001 a0001c0001t0035g0194 a0001c0001t0037g0133 a0001c0001t0051g0129 a0001c0001t0124g0224 a0001c0001t0127g0114 a0001c0001t0129g0238	18	350	0.0514	19	c.-76 others(36): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01192.hp1 others(6): Show HG00323.hp2 HG00609.hp1 HG01192.hp1 HG02735.hp1 HG04228.hp2 NA18952.hp2 NA18981.hp2 NA18989.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0068 a0001c0001t0071 a0001c0001t0077 a0001c0001t0089 a0001c0001t0097	a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0006g0004 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0006g0004 a0001c0001t0027g0343 a0001c0001t0068g0346 a0001c0001t0071g0030 a0001c0001t0077g0342 a0001c0001t0089g0270 a0001c0001t0097g0067	9	350	0.0257	19	c.10+ others(36): Show c.10+19751_10+19769dupTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37501166	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0018 a0001c0001t0026g0018	1	350	0.0029	19	c.121 others(38): Show c.1213-4112_1213-4094dupTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519736	G G	GTTTTTTT others(12): Show GTTTTTTTTGTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0087 a0001c0001t0058 a0001c0001t0087	a0001c0001t0058g0315 a0001c0001t0087g0314 a0001c0001t0058g0315 a0001c0001t0087g0314	2	350	0.0057	19	c.72 others(30): Show c.7213_*7214insGTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7214	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1B_chr19_39820350_39839162	39828922	T T	TAAAGTAA others(12): Show TAAAGTAAACGGAAGTATCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	372	0.0027	19	c.521 others(34): Show c.521-340_521-339insGGATACTTCCGTTTACTTT	DYRK1B	ENSG00000105204.14	transcript	ENST00000323039.10	protein_coding	5/10			chr19	TogoVar
DYRK2_chr12_67643745_67670406	67648689	G G	GGCGGCGG others(12): Show GGCGGCGGGGGCGGGGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0046 a0001c0003t0055g0046	1	390	0.0026	19	c.-44 others(28): Show c.-445_-444insGCGGCGGGGGCGGGGCCGC	DYRK2	ENSG00000127334.11	transcript	ENST00000344096.4	protein_coding		55		chr12	TogoVar
DYRK3_chr1_206630536_206660158	206636296	T T	TACACCTA others(12): Show TACACCTAAATGGAGAGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG03486.hp1 HG02809.hp1 HG02965.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0009g0042 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0009g0042	3	396	0.0076	19	c.77+ others(32): Show c.77+518_77+536dupCACCTAAATGGAGAGAAGA	DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
DYSF_chr2_71448561_71691763	71572115	C C	CATACCTA others(12): Show CATACCTAGCACACCCACAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA21309.hp1 HG01099.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0023 a0003c0082 a0002c0023 a0003c0082	a0002c0023t0001 a0003c0082t0003 a0002c0023t0001 a0003c0082t0003	a0002c0023t0001g0072 a0003c0082t0003g0185 a0002c0023t0001g0072 a0003c0082t0003g0185	2	192	0.0104	19	c.317 others(38): Show c.3174+1379_3174+1380insTAGCACACCCACAGATACC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71617879	G G	GGTGTGTG others(12): Show GGTGTGTGTGTGGTAGAGGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(49): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01978.hp2 HG02083.hp2 HG02300.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18952.hp2 NA18963.hp2 NA18994.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0007 a0011 a0014 a0016 a0017 a0020 a0021 a0022 a0028	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0038 a0001c0046 a0001c0052 a0001c0057 a0001c0071 a0001c0073 a0001c0075 a0001c0076 a0002c0021 a0002c0023 a0002c0067 a0003c0043 a0007c0028 a0011c0054 a0014c0078 a0016c0036 a0017c0039 a0020c0063 a0021c0058 a0022c0044 a0028c0068	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0003 a0001c0007t0001 a0001c0009t0001 a0001c0010t0004 a0001c0012t0001 a0001c0014t0001 a0001c0038t0001 a0001c0046t0005 a0001c0052t0001 a0001c0057t0001 a0001c0071t0002 a0001c0073t0001 a0001c0075t0001 a0001c0076t0001 a0002c0021t0001 a0002c0023t0001 a0002c0067t0001 a0003c0043t0001 a0007c0028t0004 a0011c0054t0002 a0014c0078t0006 a0016c0036t0001 a0017c0039t0001 a0020c0063t0001 a0021c0058t0001 a0022c0044t0002 a0028c0068t0004	a0001c0001t0001g0192 a0001c0001t0003g0099 a0001c0002t0001g0041 others(49): Show a0001c0001t0001g0192 a0001c0001t0003g0099 a0001c0002t0001g0041 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0094 a0001c0002t0001g0124 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0139 a0001c0002t0001g0161 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0181 a0001c0004t0001g0062 a0001c0005t0001g0029 a0001c0005t0001g0136 a0001c0005t0001g0140 a0001c0005t0002g0146 a0001c0005t0002g0152 a0001c0006t0003g0007 a0001c0007t0001g0184 a0001c0009t0001g0103 a0001c0010t0004g0033 a0001c0012t0001g0071 a0001c0012t0001g0127 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0038t0001g0061 a0001c0046t0005g0147 a0001c0052t0001g0009 a0001c0057t0001g0107 a0001c0071t0002g0077 a0001c0073t0001g0005 a0001c0075t0001g0055 a0001c0076t0001g0120 a0002c0021t0001g0090 a0002c0023t0001g0072 a0002c0067t0001g0038 a0003c0043t0001g0030 a0007c0028t0004g0047 a0011c0054t0002g0164 a0014c0078t0006g0187 a0016c0036t0001g0118 a0017c0039t0001g0068 a0020c0063t0001g0036 a0021c0058t0001g0008 a0022c0044t0002g0148 a0028c0068t0004g0100	52	192	0.2708	19	c.441 others(38): Show c.4410+4478_4410+4479insTGGTAGAGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71572115	C C	CATACCTA others(12): Show CATACCTAGCACACCCACAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA21309.hp1 HG01099.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0023 a0003c0088 a0002c0023 a0003c0088	a0002c0023t0001 a0003c0088t0006 a0002c0023t0001 a0003c0088t0006	a0002c0023t0001g0123 a0003c0088t0006g0192 a0002c0023t0001g0123 a0003c0088t0006g0192	2	208	0.0096	19	c.322 others(38): Show c.3228+1379_3228+1380insTAGCACACCCACAGATACC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617879	G G	GGTGTGTG others(12): Show GGTGTGTGTGTGGTAGAGGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(52): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01978.hp1 HG02083.hp1 HG02300.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18952.hp2 NA18963.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0009 a0013 a0015 a0017 a0018 a0022 a0023 a0024 a0027 a0031	a0001c0001 a0001c0002 a0001c0004 others(30): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0040 a0001c0047 a0001c0053 a0001c0057 a0001c0073 a0001c0078 a0001c0080 a0001c0081 a0002c0021 a0002c0023 a0002c0070 a0003c0044 a0005c0035 a0009c0029 a0013c0054 a0015c0083 a0017c0038 a0018c0041 a0022c0066 a0023c0058 a0024c0045 a0027c0059 a0031c0071	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0003 a0001c0007t0002 a0001c0010t0001 a0001c0010t0005 a0001c0012t0001 a0001c0013t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0002 a0001c0040t0001 a0001c0047t0003 a0001c0053t0001 a0001c0057t0001 a0001c0073t0001 a0001c0078t0001 a0001c0080t0001 a0001c0081t0001 a0002c0021t0001 a0002c0023t0001 a0002c0070t0001 a0003c0044t0001 a0005c0035t0001 a0009c0029t0005 a0013c0054t0002 a0015c0083t0002 a0017c0038t0001 a0018c0041t0001 a0022c0066t0001 a0023c0058t0001 a0024c0045t0001 a0027c0059t0005 a0031c0071t0005	a0001c0001t0001g0135 a0001c0001t0001g0203 a0001c0001t0003g0059 others(52): Show a0001c0001t0001g0135 a0001c0001t0001g0203 a0001c0001t0003g0059 a0001c0002t0001g0046 a0001c0002t0001g0067 a0001c0002t0001g0073 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0185 a0001c0004t0001g0080 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0006t0003g0204 a0001c0007t0002g0189 a0001c0010t0001g0041 a0001c0010t0005g0091 a0001c0012t0001g0208 a0001c0013t0001g0057 a0001c0013t0002g0186 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0040t0001g0096 a0001c0047t0003g0145 a0001c0053t0001g0206 a0001c0057t0001g0009 a0001c0073t0001g0128 a0001c0078t0001g0199 a0001c0080t0001g0086 a0001c0081t0001g0018 a0002c0021t0001g0042 a0002c0023t0001g0123 a0002c0070t0001g0079 a0003c0044t0001g0023 a0005c0035t0001g0122 a0009c0029t0005g0084 a0013c0054t0002g0169 a0015c0083t0002g0188 a0017c0038t0001g0015 a0018c0041t0001g0118 a0022c0066t0001g0075 a0023c0058t0001g0205 a0024c0045t0001g0093 a0027c0059t0005g0117 a0031c0071t0005g0077	55	208	0.2644	19	c.446 others(38): Show c.4465-2659_4465-2658insTGGTAGAGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108622835	A A	AGTCTCTC others(12): Show AGTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	318	0.0031	19	c.376 others(36): Show c.376-1608_376-1590dupGTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108697439	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0116 a0001c0008t0001g0116	1	318	0.0031	19	c.40 others(30): Show c.4086_*4087insAAAAAAAAAAAAAAAAAAA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding		2600		chr3	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(12): Show AATTATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01975.hp2 HG03139.hp1 others(1): Show HG00735.hp1 HG01975.hp2 HG03139.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0066	4	366	0.0109	19	c.-29 others(30): Show c.-2973_-2972insATATATATATATATATAAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG03491.hp1 NA18979.hp1 others(1): Show HG01099.hp2 HG03491.hp1 NA18979.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0027 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0136	4	366	0.0109	19	c.-29 others(30): Show c.-2977_-2976insATATATTTTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA19057.hp1 NA19060.hp1 others(2): Show NA18953.hp2 NA19057.hp1 NA19060.hp1 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0042 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0133 a0001c0001t0002g0168	5	366	0.0137	19	c.-29 others(30): Show c.-2977_-2976insATATATATTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01952.hp1 NA18951.hp2 others(8): Show HG01123.hp1 HG01952.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18994.hp2 NA19000.hp2 NA19011.hp2 NA19070.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0026 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0128 a0001c0001t0002g0149 a0001c0001t0002g0165 a0001c0001t0002g0189	11	366	0.0301	19	c.-29 others(30): Show c.-2977_-2976insATATATATATTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01256.hp1 others(18): Show HG00438.hp2 HG00544.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02258.hp1 HG02735.hp1 HG02965.hp2 HG03942.hp1 NA18612.hp2 NA18949.hp2 NA18952.hp1 NA18970.hp2 NA18990.hp2 NA19010.hp1 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0192 a0001c0001t0002g0002 a0001c0001t0002g0003 others(12): Show a0001c0001t0001g0192 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0191 a0001c0001t0013g0166	21	366	0.0574	19	c.-29 others(30): Show c.-2977_-2976insATATATATATATTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18989.hp2 NA18948.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0146 a0001c0001t0011g0041 a0001c0001t0002g0146 a0001c0001t0011g0041	2	366	0.0055	19	c.-29 others(30): Show c.-2977_-2976insATATATATATATATTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F8_chr11_19219063_19245945	19223035	G G	GAAGGCAG others(12): Show GAAGGCAGGGGCCATTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0004 a0005c0016t0004	a0005c0016t0004g0154 a0005c0016t0004g0154	1	438	0.0023	19	c.16 others(30): Show c.1622_*1623insAAGAAATGGCCCCTGCCTT	E2F8	ENSG00000129173.13	transcript	ENST00000250024.9	protein_coding		1027		chr11	TogoVar
EAF2_chr3_121830209_121891526	121840515	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0193 a0001c0001t0001g0194	2	318	0.0063	19	c.107 others(36): Show c.107-3932_107-3931insAAAAAAAAAAAACAAAAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EBAG9_chr8_109535173_109570996	109538047	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03453.hp2 others(2): Show HG01243.hp2 HG02145.hp2 HG03453.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0036 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0002g0048	5	356	0.0140	19	c.-24 others(30): Show c.-2430_-2429insTTTTTTTTTTTTTTTTTTT	EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding		2125		chr8	TogoVar
EBF3_chr10_129830233_129969274	129831278	G G	GCCTCCCA others(12): Show GCCTCCCACTCCCGCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(292): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0040 a0001c0002t0042 a0001c0002t0043 a0001c0002t0045 a0001c0004t0003 a0001c0005t0003 a0001c0006t0002 a0002c0003t0024 a0002c0003t0053	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(292): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0284 a0001c0001t0003g0318 a0001c0001t0004g0019 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0070 a0001c0001t0004g0098 a0001c0001t0004g0104 a0001c0001t0004g0107 a0001c0001t0004g0118 a0001c0001t0004g0129 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0172 a0001c0001t0004g0184 a0001c0001t0004g0193 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0215 a0001c0001t0004g0219 a0001c0001t0004g0224 a0001c0001t0004g0232 a0001c0001t0004g0238 a0001c0001t0004g0250 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0279 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0005g0041 a0001c0001t0005g0093 a0001c0001t0005g0105 a0001c0001t0005g0120 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0229 a0001c0001t0006g0002 a0001c0001t0006g0031 a0001c0001t0006g0071 a0001c0001t0006g0086 a0001c0001t0006g0153 a0001c0001t0006g0230 a0001c0001t0007g0003 a0001c0001t0007g0009 a0001c0001t0007g0056 a0001c0001t0007g0101 a0001c0001t0007g0131 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0192 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0272 a0001c0001t0007g0276 a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0008g0047 a0001c0001t0008g0065 a0001c0001t0008g0080 a0001c0001t0008g0155 a0001c0001t0008g0212 a0001c0001t0008g0244 a0001c0001t0008g0249 a0001c0001t0009g0030 a0001c0001t0009g0060 a0001c0001t0009g0138 a0001c0001t0009g0146 a0001c0001t0009g0181 a0001c0001t0009g0183 a0001c0001t0010g0326 a0001c0001t0010g0328 a0001c0001t0010g0329 a0001c0001t0010g0330 a0001c0001t0011g0189 a0001c0001t0011g0246 a0001c0001t0011g0260 a0001c0001t0012g0021 a0001c0001t0012g0117 a0001c0001t0012g0205 a0001c0001t0013g0040 a0001c0001t0013g0109 a0001c0001t0013g0115 a0001c0001t0014g0165 a0001c0001t0014g0173 a0001c0001t0014g0277 a0001c0001t0015g0053 a0001c0001t0015g0137 a0001c0001t0015g0236 a0001c0001t0016g0102 a0001c0001t0016g0106 a0001c0001t0017g0197 a0001c0001t0017g0223 a0001c0001t0018g0061 a0001c0001t0018g0154 a0001c0001t0019g0111 a0001c0001t0019g0199 a0001c0001t0020g0074 a0001c0001t0020g0263 a0001c0001t0021g0152 a0001c0001t0021g0159 a0001c0001t0022g0174 a0001c0001t0022g0175 a0001c0001t0023g0182 a0001c0001t0023g0271 a0001c0001t0024g0325 a0001c0001t0025g0333 a0001c0001t0025g0338 a0001c0001t0026g0336 a0001c0001t0027g0001 a0001c0001t0029g0076 a0001c0001t0030g0095 a0001c0001t0031g0128 a0001c0001t0032g0213 a0001c0001t0033g0015 a0001c0001t0035g0282 a0001c0001t0036g0270 a0001c0001t0037g0231 a0001c0001t0038g0225 a0001c0001t0039g0055 a0001c0001t0041g0075 a0001c0001t0044g0235 a0001c0001t0046g0242 a0001c0001t0047g0320 a0001c0001t0048g0321 a0001c0001t0049g0322 a0001c0001t0050g0319 a0001c0001t0051g0323 a0001c0001t0054g0335 a0001c0001t0055g0334 a0001c0002t0001g0286 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0003g0288 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0305 a0001c0002t0003g0308 a0001c0002t0003g0310 a0001c0002t0004g0287 a0001c0002t0004g0309 a0001c0002t0004g0311 a0001c0002t0005g0296 a0001c0002t0005g0302 a0001c0002t0006g0301 a0001c0002t0006g0316 a0001c0002t0008g0306 a0001c0002t0009g0315 a0001c0002t0040g0304 a0001c0002t0042g0290 a0001c0002t0043g0291 a0001c0002t0045g0289 a0001c0004t0003g0241 a0001c0005t0003g0317 a0001c0006t0002g0314 a0002c0003t0024g0331 a0002c0003t0053g0332	295	338	0.8728	19	c.66 others(30): Show c.6664_*6665insGAGGTGCGGGAGTGGGAGG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding		3954		chr10	TogoVar
EBF3_chr10_129830233_129969274	129831294	C C	CCTCCCTC others(12): Show CCTCCCTCCCACTCCCGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0188 a0001c0001t0008g0188	1	338	0.0030	19	c.66 others(30): Show c.6648_*6649insATGCGGGAGTGGGAGGGAG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding		3938		chr10	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG03471.hp2 HG02886.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0190 a0001c0001t0004g0193 a0001c0001t0007g0131 a0001c0001t0001g0190 a0001c0001t0004g0193 a0001c0001t0007g0131	3	338	0.0089	19	c.554 others(38): Show c.554+39588_554+39606dupTTTTTTTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	438	0.0023	19	c.538 others(34): Show c.538-411_538-393dupAAAAAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBNA1BP2_chr1_43159184_43177290	43163613	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	392	0.0026	19	c.82 others(28): Show c.829_*830insTTTTTTTTTTTTTTTTTTT	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		570		chr1	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19011.hp1 NA18957.hp2 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0138 a0001c0002t0002g0141	2	400	0.0050	19	c.-28 others(36): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	400	0.0025	19	c.-28 others(36): Show c.-28+2604_-28+2605insATATATATATTTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19070.hp1 NA18944.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	400	0.0050	19	c.-28 others(36): Show c.-28+2604_-28+2605insATATATATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92535136	T T	TAGATACT others(12): Show TAGATACTTTTACTTACCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00639.hp2 others(62): Show HG00140.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01243.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18988.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19076.hp2 NA19084.hp2 NA19087.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0008 a0001c0009 others(2): Show a0001c0002 a0001c0008 a0001c0009 a0001c0017 a0006c0020	a0001c0002t0002 a0001c0002t0004 a0001c0008t0002 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0008t0002 a0001c0009t0002 a0001c0017t0001 a0006c0020t0002	a0001c0002t0002g0015 a0001c0002t0002g0129 a0001c0002t0002g0130 others(60): Show a0001c0002t0002g0015 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0004g0184 a0001c0008t0002g0175 a0001c0008t0002g0176 a0001c0008t0002g0177 a0001c0008t0002g0183 a0001c0009t0002g0014 a0001c0009t0002g0146 a0001c0009t0002g0151 a0001c0017t0001g0188 a0006c0020t0002g0160	65	400	0.1625	19	c.-28 others(34): Show c.-28+796_-28+797insTAGGTAAGTAAAAGTATCT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407428	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	354	0.0028	19	c.265 others(38): Show c.2652+1142_2652+1143insCTTTTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGCGG others(12): Show CGGGGCGGGGGGGGTGGGGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	434	0.0023	19	c.79+ others(34): Show c.79+1220_79+1221insCGGGGGGGGTGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02717.hp1 NA18522.hp2 others(1): Show HG02135.hp1 HG02717.hp1 NA18522.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0153 a0001c0001t0001g0162	4	434	0.0092	19	c.80- others(32): Show c.80-510_80-492dupAAAAAAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	312	0.0032	19	c.739 others(34): Show c.739-336_739-335insAAAAAAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138907313	A A	AAGTGTGT others(12): Show AAGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02572.hp2 NA20300.hp1 HG01081.hp2 HG02572.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0160 a0001c0001t0003g0014 a0001c0001t0008g0046 a0001c0001t0002g0160 a0001c0001t0003g0014 a0001c0001t0008g0046	3	326	0.0092	19	c.46 others(30): Show c.4686_*4687insAGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		3244		chr6	TogoVar
EDARADD_chr1_236389286_236489930	236445234	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(38): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00733.hp1 HG01175.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02080.hp2 HG02293.hp1 HG02293.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18948.hp1 NA18987.hp2 NA19009.hp2 NA19062.hp1 NA19063.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0002c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0003t0002 a0001c0003t0004 a0001c0004t0005 a0001c0005t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0007t0023 a0003c0006t0001	a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0093 others(38): Show a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0184 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0002g0156 a0001c0001t0003g0178 a0001c0001t0004g0082 a0001c0001t0004g0091 a0001c0001t0005g0176 a0001c0001t0010g0163 a0001c0001t0012g0119 a0001c0001t0027g0188 a0001c0003t0002g0004 a0001c0003t0002g0007 a0001c0003t0004g0026 a0001c0004t0005g0100 a0001c0004t0005g0134 a0001c0005t0005g0035 a0002c0002t0001g0279 a0002c0002t0003g0271 a0002c0002t0004g0270 a0002c0007t0023g0272 a0003c0006t0001g0190	41	294	0.1395	19	c.219 others(38): Show c.219+17795_219+17796insTTTTTTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447224	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18989.hp2 HG01496.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0168 a0002c0002t0003g0252 a0001c0001t0004g0168 a0002c0002t0003g0252	2	294	0.0068	19	c.219 others(38): Show c.219+19774_219+19775insTTTCTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5			chr1	TogoVar
EDAR_chr2_108889471_108994220	108909442	T T	TGAATCAT others(12): Show TGAATCATAGGAAGATCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0002c0003 a0002c0013 a0003c0008 a0004c0009 a0005c0012 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0004t0006 a0001c0005t0003 a0001c0005t0005 a0001c0005t0006 a0001c0006t0010 a0001c0007t0011 a0001c0010t0001 a0001c0011t0009 a0001c0014t0003 a0001c0015t0018 a0002c0003t0001 a0002c0003t0019 a0002c0013t0002 a0003c0008t0002 a0004c0009t0008 a0005c0012t0004 a0006c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(194): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0075 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0178 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0211 a0001c0001t0008g0100 a0001c0001t0008g0144 a0001c0001t0008g0181 a0001c0001t0008g0195 a0001c0001t0014g0009 a0001c0001t0020g0108 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0153 a0001c0002t0004g0035 a0001c0002t0004g0079 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0095 a0001c0002t0004g0102 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0120 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0172 a0001c0002t0004g0180 a0001c0002t0004g0185 a0001c0002t0004g0197 a0001c0002t0005g0189 a0001c0002t0005g0190 a0001c0002t0005g0191 a0001c0002t0005g0201 a0001c0002t0005g0204 a0001c0002t0005g0206 a0001c0002t0006g0046 a0001c0002t0006g0047 a0001c0002t0006g0199 a0001c0002t0006g0202 a0001c0002t0007g0059 a0001c0002t0007g0060 a0001c0002t0007g0080 a0001c0002t0007g0082 a0001c0002t0007g0145 a0001c0002t0007g0146 a0001c0002t0009g0007 a0001c0002t0009g0107 a0001c0002t0009g0114 a0001c0002t0009g0208 a0001c0002t0012g0010 a0001c0002t0012g0103 a0001c0002t0012g0124 a0001c0002t0012g0128 a0001c0002t0013g0052 a0001c0002t0013g0207 a0001c0002t0015g0129 a0001c0002t0016g0127 a0001c0002t0017g0012 a0001c0004t0006g0136 a0001c0005t0003g0048 a0001c0005t0003g0125 a0001c0005t0005g0143 a0001c0005t0006g0137 a0001c0005t0006g0200 a0001c0006t0010g0011 a0001c0006t0010g0014 a0001c0006t0010g0017 a0001c0006t0010g0028 a0001c0006t0010g0142 a0001c0007t0011g0021 a0001c0007t0011g0089 a0001c0007t0011g0131 a0001c0007t0011g0134 a0001c0007t0011g0196 a0001c0010t0001g0018 a0001c0011t0009g0093 a0001c0014t0003g0104 a0001c0015t0018g0013 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0015 a0002c0003t0001g0061 a0002c0003t0001g0088 a0002c0003t0001g0094 a0002c0003t0001g0112 a0002c0003t0001g0116 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0147 a0002c0003t0001g0149 a0002c0003t0001g0158 a0002c0003t0001g0160 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0176 a0002c0003t0001g0179 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0019g0171 a0002c0013t0002g0170 a0003c0008t0002g0056 a0003c0008t0002g0057 a0003c0008t0002g0205 a0004c0009t0008g0159 a0004c0009t0008g0184 a0005c0012t0004g0113 a0006c0016t0001g0177	211	226	0.9336	19	c.803 others(35): Show c.803+999_803+1017dupCATGATCTTCCTATGATTC	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	9/11			chr2	TogoVar
EDAR_chr2_108889471_108994220	108932528	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0052 a0001c0002t0013g0052	1	226	0.0044	19	c.-18 others(36): Show c.-18-1515_-18-1497dupTTTTTTTTTTTTTTTTTTT	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
EDAR_chr2_108889471_108994220	108958817	C C	CTTGGAAG others(12): Show CTTGGAAGTGTCAGCCAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(104): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18954.hp1 NA18955.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0002c0003 a0002c0013 a0003c0008 a0004c0009 a0005c0012 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0004t0003 a0001c0005t0003 a0001c0005t0006 a0001c0011t0009 a0001c0014t0003 a0002c0003t0001 a0002c0003t0019 a0002c0013t0002 a0003c0008t0002 a0004c0009t0008 a0005c0012t0004 a0006c0016t0001	a0001c0001t0001g0039 a0001c0001t0001g0168 a0001c0001t0001g0175 others(95): Show a0001c0001t0001g0039 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0002g0006 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0178 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0008g0100 a0001c0001t0008g0181 a0001c0001t0008g0195 a0001c0001t0020g0108 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0172 a0001c0002t0004g0185 a0001c0002t0005g0189 a0001c0002t0005g0190 a0001c0002t0005g0191 a0001c0002t0005g0201 a0001c0002t0005g0204 a0001c0002t0005g0206 a0001c0002t0009g0107 a0001c0002t0012g0124 a0001c0002t0016g0127 a0001c0004t0003g0041 a0001c0004t0003g0091 a0001c0004t0003g0097 a0001c0004t0003g0169 a0001c0005t0003g0125 a0001c0005t0006g0137 a0001c0011t0009g0093 a0001c0014t0003g0104 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0061 a0002c0003t0001g0112 a0002c0003t0001g0116 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0147 a0002c0003t0001g0149 a0002c0003t0001g0158 a0002c0003t0001g0160 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0176 a0002c0003t0001g0179 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0019g0171 a0002c0013t0002g0170 a0003c0008t0002g0205 a0004c0009t0008g0159 a0004c0009t0008g0184 a0005c0012t0004g0113 a0006c0016t0001g0177	107	226	0.4735	19	c.-18 others(38): Show c.-18-27804_-18-27786dupCTCTGGCTGACACTTCCAA	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
EDDM13_chr19_56267748_56315454	56292451	G G	GTTTTTAC others(12): Show GTTTTTACTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	396	0.0025	19	c.232 others(36): Show c.232+1607_232+1625dupTTTTACTTTTTTTTTTTTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56292458	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTACT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	396	0.0025	19	c.232 others(36): Show c.232+1625_232+1626insTTTACTTTTTTTTTTTTTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDEM3_chr1_184685237_184759858	184720509	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0269 a0001c0004t0004g0269	1	324	0.0031	19	c.951 others(34): Show c.951+779_951+780insAAAAAAAAAAAAAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/19			chr1	TogoVar

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