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
ENOX2_chrX_130617325_130908209	130649043	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03225.hp1 HG01934.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0044 a0001c0001t0004g0148 a0001c0001t0001g0044 a0001c0001t0004g0148	2	154	0.0130	-7	c.112 others(26): Show c.1129+7531_1129+7537delTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130656255	GGACCTGT GGACCTGT	G G	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	154	0.0065	-7	c.112 others(24): Show c.1129+319_1129+325delACAGGTC	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130742245	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	154	0.0065	-7	c.-38 others(26): Show c.-38-38998_-38-38992delAAAAAAA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	3/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130760785	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02647.hp1 HG01123.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0122 a0001c0001t0011g0007 a0001c0001t0001g0122 a0001c0001t0011g0007	2	154	0.0130	-7	c.-39 others(26): Show c.-39+22755_-39+22761delTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	3/14			chrX	TogoVar
ENOX2_chrX_130617325_130908209	130821742	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	154	0.0065	-7	c.-18 others(28): Show c.-182-38059_-182-38053delTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	2/14			chrX	TogoVar
ENPP1_chr6_131803020_131900155	131893949	CTTTTTTT CTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02451.hp1 others(12): Show HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02965.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0002 a0002c0003 others(2): Show a0001c0007 a0002c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0007t0038 a0002c0002t0021 a0002c0002t0036 others(5): Show a0001c0007t0038 a0002c0002t0021 a0002c0002t0036 a0002c0002t0069 a0002c0002t0079 a0002c0003t0037 a0002c0004t0025 a0003c0005t0009	a0001c0007t0038g0103 a0002c0002t0021g0111 a0002c0002t0021g0112 others(12): Show a0001c0007t0038g0103 a0002c0002t0021g0111 a0002c0002t0021g0112 a0002c0002t0036g0115 a0002c0002t0069g0155 a0002c0002t0079g0210 a0002c0003t0037g0032 a0002c0004t0025g0156 a0002c0004t0025g0157 a0003c0005t0009g0276 a0003c0005t0009g0278 a0003c0005t0009g0279 a0003c0005t0009g0280 a0003c0005t0009g0281 a0003c0005t0009g0282	15	292	0.0514	-7	c.34 others(18): Show c.3462_*3468delTTTTTTT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	25/25	3462	INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131896426	CGCAAAAA CGCAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01099.hp1 others(6): Show HG00099.hp1 HG00735.hp2 HG01099.hp1 HG01891.hp1 HG02257.hp1 HG02735.hp2 NA18939.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0020 a0001c0001 a0002c0002 a0011c0020	a0001c0001t0001 a0001c0001t0014 a0001c0001t0084 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0084 a0001c0001t0087 a0002c0002t0015 a0002c0002t0066 a0011c0020t0051	a0001c0001t0001g0051 a0001c0001t0001g0149 a0001c0001t0014g0245 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0149 a0001c0001t0014g0245 a0001c0001t0014g0255 a0001c0001t0084g0102 a0001c0001t0087g0077 a0002c0002t0015g0110 a0002c0002t0066g0215 a0011c0020t0051g0191	9	292	0.0308	-7	c.59 others(18): Show c.5916_*5922delGCAAAAA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding		1272		chr6	TogoVar
ENPP3_chr6_131632302_131752410	131717352	GTGTGTGT GTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG03540.hp2 others(1): Show HG02486.hp1 HG02818.hp2 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0154 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0172	4	278	0.0144	-7	c.141 others(26): Show c.1413-1319_1413-1313delTGTGTGT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24			chr6	TogoVar
ENPP6_chr4_184083706_184222873	184129288	ACATACAC ACATACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG03130.hp1 others(2): Show HG01884.hp2 HG02717.hp1 HG03130.hp1 HG03688.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0001c0016t0025	a0001c0002t0002g0048 a0001c0002t0005g0022 a0001c0002t0005g0023 others(2): Show a0001c0002t0002g0048 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0003t0003g0097 a0001c0016t0025g0316	5	320	0.0156	-7	c.422 others(24): Show c.422-5023_422-5017delGTGTATG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131194	TTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18974.hp1 NA18992.hp1 others(1): Show HG02071.hp1 NA18974.hp1 NA18992.hp1 NA18992.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0006 a0002c0001t0001 a0002c0001t0006	a0002c0001t0001g0154 a0002c0001t0001g0192 a0002c0001t0001g0203 others(1): Show a0002c0001t0001g0154 a0002c0001t0001g0192 a0002c0001t0001g0203 a0002c0001t0006g0066	4	320	0.0125	-7	c.422 others(24): Show c.422-6929_422-6923delGAAAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184208919	TCCCTGAC TCCCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp1 NA19240.hp1 HG02723.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315	3	320	0.0094	-7	c.241 others(24): Show c.241+8653_241+8659delGTCAGGG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79736585	TGTCCAGG TGTCCAGG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG01346.hp1 others(31): Show HG00738.hp2 HG01261.hp1 HG01346.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 NA18522.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18984.hp1 NA18994.hp2 NA19003.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0017 a0002c0012 others(1): Show a0001c0004 a0001c0017 a0002c0012 a0003c0005	a0001c0004t0002 a0001c0017t0001 a0002c0012t0002 others(2): Show a0001c0004t0002 a0001c0017t0001 a0002c0012t0002 a0003c0005t0001 a0003c0005t0002	a0001c0004t0002g0007 a0001c0004t0002g0036 a0001c0004t0002g0063 others(18): Show a0001c0004t0002g0007 a0001c0004t0002g0036 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0217 a0001c0004t0002g0219 a0001c0004t0002g0220 a0001c0017t0001g0070 a0002c0012t0002g0007 a0002c0012t0002g0107 a0002c0012t0002g0111 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0135 a0003c0005t0001g0145 a0003c0005t0001g0147 a0003c0005t0001g0161 a0003c0005t0001g0185 a0003c0005t0001g0190 a0003c0005t0002g0146 a0003c0005t0002g0154	34	430	0.0791	-7	c.102 others(24): Show c.1027-453_1027-447delCCAGGGT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39888260	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01167.hp1 others(2): Show HG00735.hp1 HG01069.hp2 HG01167.hp1 HG01978.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0114 a0001c0001t0001g0178	5	218	0.0229	-7	c.-15 others(24): Show c.-155-364_-155-358delAAAAAAA	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	1/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG02559.hp2 others(6): Show HG00639.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG03225.hp1 HG03486.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0300 a0001c0001t0007g0301 others(5): Show a0001c0001t0007g0014 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0306	9	340	0.0265	-7	c.16+ others(22): Show c.16+1769_16+1775delAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95758024	AAAAAAAG AAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG02132.hp1 others(23): Show HG01261.hp1 HG01433.hp1 HG02132.hp1 HG02698.hp1 HG02886.hp2 HG03239.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp1 NA18942.hp1 NA18945.hp1 NA18957.hp2 NA18960.hp2 NA18968.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA19003.hp1 NA19058.hp2 NA19063.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0024	a0001c0001t0002g0005 a0001c0001t0002g0063 a0001c0001t0002g0064 others(22): Show a0001c0001t0002g0005 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0141 a0001c0001t0006g0071 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0142 a0001c0001t0009g0066 a0001c0001t0009g0069 a0001c0001t0014g0070 a0001c0001t0024g0067	26	340	0.0765	-7	c.16+ others(22): Show c.16+1771_16+1777delAAAAAGA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95767314	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01256.hp2 others(5): Show HG00140.hp2 HG00738.hp1 HG01256.hp2 HG01978.hp1 HG03491.hp1 HG03492.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0005 a0001c0001t0036	a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0237 others(5): Show a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0036g0297	8	340	0.0235	-7	c.16+ others(24): Show c.16+11072_16+11078delAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95826571	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01257.hp1 others(6): Show HG01109.hp2 HG01123.hp1 HG01257.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0016 a0001c0001t0011g0017 others(4): Show a0001c0001t0011g0001 a0001c0001t0011g0016 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0011g0020 a0001c0001t0011g0021	9	340	0.0265	-7	c.144 others(24): Show c.144+3223_144+3229delAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD3_chr3_40382184_40433744	40392574	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01255.hp1 others(11): Show HG00639.hp1 HG01109.hp1 HG01255.hp1 HG01884.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG03130.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0010 a0006c0007t0002 a0001c0001t0002 a0001c0001t0010 a0006c0007t0002	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0037 others(7): Show a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0010g0036 a0006c0007t0002g0008 a0006c0007t0002g0035	14	374	0.0374	-7	c.168 others(22): Show c.168+436_168+442delAAAAAAA	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD3_chr3_40382184_40433744	40401083	AGAGGTCC AGAGGTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(113): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0011	a0001c0001 a0002c0002 a0005c0006 others(2): Show a0001c0001 a0002c0002 a0005c0006 a0010c0010 a0011c0013	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0005c0006t0001 a0010c0010t0002 a0011c0013t0002	a0001c0001t0001g0084 a0002c0002t0002g0002 a0002c0002t0002g0009 others(88): Show a0001c0001t0001g0084 a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0042 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0141 a0002c0002t0008g0068 a0002c0002t0008g0092 a0002c0002t0012g0119 a0005c0006t0001g0089 a0005c0006t0001g0114 a0010c0010t0002g0137 a0011c0013t0002g0094	116	374	0.3102	-7	c.286 others(20): Show c.286+73_286+79delGAGGTCC	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	4/10			chr3	TogoVar
ENTPD5_chr14_73958230_74024288	73965268	AGAGGATG AGAGGATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02622.hp1 others(4): Show HG02258.hp1 HG02280.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0011 a0001c0001t0022	a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0133 others(4): Show a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0134 a0001c0001t0011g0135 a0001c0001t0011g0136 a0001c0001t0022g0137	7	380	0.0184	-7	c.16 others(18): Show c.1653_*1659delCATCCTC	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	16/16	1653		chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69349184	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0004c0007 a0005c0009 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0002c0002t0001 a0003c0006t0001 a0004c0007t0001 a0005c0009t0001 a0006c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(217): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0220 a0001c0001t0002g0234 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0006g0126 a0001c0001t0007g0181 a0001c0001t0008g0101 a0001c0003t0001g0049 a0002c0002t0001g0003 a0002c0002t0001g0223 a0002c0002t0001g0224 a0003c0006t0001g0210 a0004c0007t0001g0028 a0005c0009t0001g0110 a0006c0005t0001g0222	237	342	0.6930	-7	c.471 others(26): Show c.471+12936_471+12942delAAAAAAA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29116054	GAGCTCCC GAGCTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0011 a0001c0024 a0001c0011 a0001c0024	a0001c0011t0010 a0001c0024t0010 a0001c0011t0010 a0001c0024t0010	a0001c0011t0010g0116 a0001c0024t0010g0062 a0001c0011t0010g0116 a0001c0024t0010g0062	2	125	0.0160	-7	c.72 others(18): Show c.7278_*7284delGGGAGCT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding		4197		chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29356287	TATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG03041.hp1 HG01891.hp2 HG02258.hp2 HG03041.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0003 a0003c0023 a0006c0029 a0002c0003 a0003c0023 a0006c0029	a0002c0003t0013 a0003c0023t0022 a0006c0029t0029 a0002c0003t0013 a0003c0023t0022 a0006c0029t0029	a0002c0003t0013g0017 a0003c0023t0022g0030 a0006c0029t0029g0093 a0002c0003t0013g0017 a0003c0023t0022g0030 a0006c0029t0029g0093	3	125	0.0240	-7	c.276 others(26): Show c.276+25481_276+25487delTATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29408842	TATATTTG TATATTTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG01081.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0015 a0002c0003 a0002c0015	a0002c0003t0013 a0002c0015t0005 a0002c0003t0013 a0002c0015t0005	a0002c0003t0013g0019 a0002c0015t0005g0070 a0002c0003t0013g0019 a0002c0015t0005g0070	2	125	0.0160	-7	c.220 others(26): Show c.220-27018_220-27012delCAAATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
EOLA2_chrX_149927197_149943491	149940766	AGCTCTAG AGCTCTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	331	0.0030	-7	c.-27 others(18): Show c.-2791_-2785delCTAGAGC	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding		2276		chrX	TogoVar
EOMES_chr3_27710953_27727323	27722866	CTTTTTTT CTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01099.hp2 others(60): Show HG00558.hp1 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp2 NA18612.hp1 NA18962.hp2 NA18971.hp1 NA18983.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19065.hp2 NA19068.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0003c0004t0003 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0005g0031 a0001c0001t0005g0066 a0001c0001t0010g0067 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0040 a0002c0002t0002g0004 a0002c0002t0003g0038 a0002c0002t0005g0042 a0002c0002t0007g0050 a0002c0002t0007g0051 a0003c0004t0003g0014 a0004c0007t0001g0061	63	400	0.1575	-7	c.-57 others(16): Show c.-579_-573delAAAAAAA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		544		chr3	TogoVar
EP300_chr22_41087592_41185077	41110282	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02486.hp2 others(6): Show HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(2): Show a0001c0002 a0001c0005 a0001c0006 a0001c0022 a0001c0030	a0001c0002t0020 a0001c0002t0032 a0001c0005t0016 others(5): Show a0001c0002t0020 a0001c0002t0032 a0001c0005t0016 a0001c0006t0003 a0001c0006t0007 a0001c0006t0046 a0001c0022t0003 a0001c0030t0042	a0001c0002t0020g0099 a0001c0002t0032g0101 a0001c0005t0016g0135 others(6): Show a0001c0002t0020g0099 a0001c0002t0032g0101 a0001c0005t0016g0135 a0001c0006t0003g0044 a0001c0006t0007g0043 a0001c0006t0007g0045 a0001c0006t0046g0047 a0001c0022t0003g0296 a0001c0030t0042g0041	9	300	0.0300	-7	c.95- others(22): Show c.95-6873_95-6867delTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41111519	CTTCCTTT CTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show HG02109.hp1 HG02886.hp2 HG02970.hp2 HG03486.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0015 a0001c0001t0025 a0001c0001t0041 others(1): Show a0001c0001t0015 a0001c0001t0025 a0001c0001t0041 a0001c0028t0015	a0001c0001t0015g0189 a0001c0001t0015g0195 a0001c0001t0015g0196 others(3): Show a0001c0001t0015g0189 a0001c0001t0015g0195 a0001c0001t0015g0196 a0001c0001t0025g0188 a0001c0001t0041g0187 a0001c0028t0015g0197	6	300	0.0200	-7	c.95- others(22): Show c.95-5657_95-5651delCTTTTTC	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41122141	TTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01943.hp1 HG02132.hp2 others(1): Show HG01257.hp2 HG01943.hp1 HG02132.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0024 a0001c0002 a0002c0024	a0001c0002t0006 a0001c0002t0010 a0001c0002t0022 others(1): Show a0001c0002t0006 a0001c0002t0010 a0001c0002t0022 a0002c0024t0074	a0001c0002t0006g0119 a0001c0002t0010g0057 a0001c0002t0022g0086 others(1): Show a0001c0002t0006g0119 a0001c0002t0010g0057 a0001c0002t0022g0086 a0002c0024t0074g0160	4	300	0.0133	-7	c.730 others(24): Show c.730-3717_730-3711delTCTTCTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167819	TTTTTTTG TTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02132.hp1 others(20): Show HG00544.hp1 HG01884.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp1 NA18948.hp2 NA18960.hp1 NA18964.hp2 NA18968.hp1 NA18994.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp2 NA19087.hp2 NA19090.hp1	a0001 a0007 a0001 a0007	a0001c0004 a0001c0005 a0007c0015 a0001c0004 a0001c0005 a0007c0015	a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 others(11): Show a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0008 a0001c0004t0010 a0001c0004t0025 a0001c0004t0033 a0001c0004t0034 a0001c0004t0044 a0001c0004t0076 a0001c0005t0016 a0001c0005t0072 a0007c0015t0002	a0001c0004t0002g0033 a0001c0004t0003g0005 a0001c0004t0003g0012 others(20): Show a0001c0004t0002g0033 a0001c0004t0003g0005 a0001c0004t0003g0012 a0001c0004t0003g0022 a0001c0004t0003g0027 a0001c0004t0004g0006 a0001c0004t0004g0013 a0001c0004t0004g0016 a0001c0004t0004g0040 a0001c0004t0005g0031 a0001c0004t0008g0026 a0001c0004t0010g0036 a0001c0004t0025g0028 a0001c0004t0033g0002 a0001c0004t0033g0025 a0001c0004t0034g0030 a0001c0004t0034g0037 a0001c0004t0044g0015 a0001c0004t0076g0032 a0001c0005t0016g0106 a0001c0005t0016g0109 a0001c0005t0072g0113 a0007c0015t0002g0024	23	300	0.0767	-7	c.387 others(24): Show c.3875-623_3875-617delGTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41170653	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01934.hp2 others(31): Show HG00544.hp1 HG00597.hp2 HG01934.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp2 NA18948.hp2 NA18955.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18994.hp2 NA18995.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19077.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0001c0013 others(1): Show a0001c0002 a0001c0004 a0001c0013 a0007c0015	a0001c0002t0005 a0001c0004t0002 a0001c0004t0003 others(13): Show a0001c0002t0005 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0008 a0001c0004t0010 a0001c0004t0011 a0001c0004t0025 a0001c0004t0033 a0001c0004t0034 a0001c0004t0035 a0001c0004t0076 a0001c0013t0004 a0007c0015t0002	a0001c0002t0005g0018 a0001c0002t0005g0020 a0001c0004t0002g0033 others(31): Show a0001c0002t0005g0018 a0001c0002t0005g0020 a0001c0004t0002g0033 a0001c0004t0003g0008 a0001c0004t0003g0009 a0001c0004t0003g0010 a0001c0004t0003g0012 a0001c0004t0003g0014 a0001c0004t0003g0021 a0001c0004t0003g0022 a0001c0004t0003g0027 a0001c0004t0003g0035 a0001c0004t0003g0038 a0001c0004t0004g0011 a0001c0004t0004g0013 a0001c0004t0004g0040 a0001c0004t0005g0019 a0001c0004t0005g0029 a0001c0004t0005g0031 a0001c0004t0005g0034 a0001c0004t0007g0001 a0001c0004t0007g0039 a0001c0004t0008g0026 a0001c0004t0010g0036 a0001c0004t0011g0023 a0001c0004t0025g0028 a0001c0004t0033g0002 a0001c0004t0033g0025 a0001c0004t0034g0030 a0001c0004t0034g0037 a0001c0004t0035g0017 a0001c0004t0076g0032 a0001c0013t0004g0007 a0007c0015t0002g0024	34	300	0.1133	-7	c.445 others(24): Show c.4452+102_4452+108delTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179877	CACTCACA CACTCACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp1 HG03942.hp1 HG04184.hp1 others(5): Show HG02523.hp1 HG03942.hp1 HG04184.hp1 NA18953.hp1 NA18998.hp1 NA19010.hp1 NA19079.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0028 a0001c0002t0051 others(2): Show a0001c0002t0023 a0001c0002t0028 a0001c0002t0051 a0001c0002t0055 a0001c0002t0071	a0001c0002t0023g0068 a0001c0002t0023g0077 a0001c0002t0023g0130 others(5): Show a0001c0002t0023g0068 a0001c0002t0023g0077 a0001c0002t0023g0130 a0001c0002t0028g0072 a0001c0002t0028g0128 a0001c0002t0051g0065 a0001c0002t0055g0299 a0001c0002t0071g0081	8	300	0.0267	-7	c.92 others(16): Show c.922_*928delACTCACA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31	922		chr22	TogoVar
EP400_chr12_131944942_132085460	131951065	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01074.hp1 others(6): Show HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG03654.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0023	a0001c0036 a0002c0001 a0002c0068 others(2): Show a0001c0036 a0002c0001 a0002c0068 a0009c0011 a0023c0044	a0001c0036t0002 a0002c0001t0001 a0002c0068t0001 others(2): Show a0001c0036t0002 a0002c0001t0001 a0002c0068t0001 a0009c0011t0001 a0023c0044t0001	a0001c0036t0002g0042 a0002c0001t0001g0037 a0002c0001t0001g0038 others(6): Show a0001c0036t0002g0042 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0068t0001g0040 a0009c0011t0001g0041 a0009c0011t0001g0043 a0009c0011t0001g0044 a0023c0044t0001g0036	9	208	0.0433	-7	c.-36 others(24): Show c.-36+1047_-36+1053delTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131966903	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show HG02056.hp2 HG02735.hp1 HG03654.hp2 NA18952.hp2 NA19080.hp1	a0001 a0015 a0001 a0015	a0001c0018 a0001c0025 a0001c0026 others(1): Show a0001c0018 a0001c0025 a0001c0026 a0015c0027	a0001c0018t0001 a0001c0018t0005 a0001c0025t0001 others(2): Show a0001c0018t0001 a0001c0018t0005 a0001c0025t0001 a0001c0026t0002 a0015c0027t0005	a0001c0018t0001g0204 a0001c0018t0005g0203 a0001c0025t0001g0202 others(2): Show a0001c0018t0001g0204 a0001c0018t0005g0203 a0001c0025t0001g0202 a0001c0026t0002g0201 a0015c0027t0005g0205	5	208	0.0240	-7	c.133 others(26): Show c.1335+4965_1335+4971delAAAAAAA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131972152	CTTTTTCT CTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA18995.hp1 NA19064.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0006 a0007 a0008 a0011 a0012 a0016 a0019 a0025 a0028	a0001c0006 a0001c0046 a0001c0056 others(15): Show a0001c0006 a0001c0046 a0001c0056 a0001c0057 a0003c0008 a0004c0014 a0004c0051 a0006c0053 a0007c0012 a0007c0055 a0008c0017 a0008c0050 a0011c0020 a0012c0054 a0016c0067 a0019c0049 a0025c0070 a0028c0072	a0001c0006t0001 a0001c0006t0005 a0001c0046t0001 others(17): Show a0001c0006t0001 a0001c0006t0005 a0001c0046t0001 a0001c0056t0001 a0001c0057t0012 a0003c0008t0001 a0003c0008t0011 a0004c0014t0007 a0004c0051t0001 a0006c0053t0002 a0007c0012t0001 a0007c0055t0001 a0008c0017t0001 a0008c0050t0001 a0011c0020t0002 a0012c0054t0001 a0016c0067t0001 a0019c0049t0001 a0025c0070t0001 a0028c0072t0001	a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0173 others(33): Show a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0173 a0001c0006t0001g0175 a0001c0006t0001g0178 a0001c0006t0001g0196 a0001c0006t0005g0199 a0001c0006t0005g0200 a0001c0046t0001g0159 a0001c0056t0001g0172 a0001c0057t0012g0171 a0003c0008t0001g0158 a0003c0008t0001g0160 a0003c0008t0001g0162 a0003c0008t0001g0166 a0003c0008t0001g0194 a0003c0008t0011g0167 a0004c0014t0007g0163 a0004c0014t0007g0164 a0004c0014t0007g0165 a0004c0051t0001g0174 a0006c0053t0002g0029 a0007c0012t0001g0030 a0007c0012t0001g0031 a0007c0012t0001g0032 a0007c0055t0001g0033 a0008c0017t0001g0168 a0008c0017t0001g0176 a0008c0050t0001g0177 a0011c0020t0002g0027 a0011c0020t0002g0028 a0012c0054t0001g0026 a0016c0067t0001g0195 a0019c0049t0001g0198 a0025c0070t0001g0197 a0028c0072t0001g0161	36	208	0.1731	-7	c.133 others(26): Show c.1336-7536_1336-7530delCTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132065573	TTAAGAAA TTAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0004 a0006 a0004 a0006	a0004c0023 a0006c0024 a0004c0023 a0006c0024	a0004c0023t0001 a0006c0024t0013 a0004c0023t0001 a0006c0024t0013	a0004c0023t0001g0151 a0006c0024t0013g0152 a0004c0023t0001g0151 a0006c0024t0013g0152	2	208	0.0096	-7	c.855 others(24): Show c.8553+688_8553+694delTAAGAAA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	48/52			chr12	TogoVar
EPAS1_chr2_46292407_46391697	46302734	GAAAAAAA GAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01074.hp1 others(11): Show HG00099.hp2 HG00673.hp2 HG01074.hp1 HG01099.hp2 HG01496.hp2 HG02735.hp1 HG03130.hp1 HG03669.hp2 HG03688.hp2 HG04228.hp2 NA18943.hp2 NA18998.hp2 NA19060.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0022 a0001c0001t0023 a0001c0005t0018	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0140 others(10): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0140 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0007g0270 a0001c0001t0010g0003 a0001c0001t0010g0142 a0001c0001t0010g0191 a0001c0001t0022g0192 a0001c0001t0023g0139 a0001c0005t0018g0183	14	326	0.0429	-7	c.26+ others(22): Show c.26+4815_26+4821delAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01168.hp1 HG02015.hp2 others(37): Show HG00597.hp2 HG01168.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp1 HG03831.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA19001.hp2 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19240.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0012	a0001c0001 a0001c0002 a0003c0004 others(3): Show a0001c0001 a0001c0002 a0003c0004 a0006c0019 a0008c0011 a0012c0018	a0001c0001t0001 a0001c0002t0002 a0003c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0003c0004t0001 a0006c0019t0001 a0008c0011t0001 a0012c0018t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 others(37): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0287 a0001c0001t0001g0352 a0001c0002t0002g0342 a0003c0004t0001g0350 a0003c0004t0001g0351 a0006c0019t0001g0053 a0008c0011t0001g0040 a0012c0018t0001g0353	40	356	0.1124	-7	c.705 others(24): Show c.705+1058_705+1064delAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131001165	TTAGACTA TTAGACTA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02647.hp2 HG02818.hp2 others(7): Show HG01123.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0100 a0001c0001t0005g0008 a0001c0001t0005g0009 others(7): Show a0001c0001t0002g0100 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016	10	356	0.0281	-7	c.-14 others(26): Show c.-14-44673_-14-44667delTAGTCTA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131048151	AAAAAAAG AAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(42): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG01071.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01978.hp2 HG01993.hp1 HG02109.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG03139.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18959.hp1 NA18965.hp1 NA18973.hp2 NA18995.hp2 NA19003.hp2 NA19009.hp1 NA19077.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0005c0006 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0002t0002 a0001c0009t0001 a0005c0006t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0139 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0245 a0001c0001t0002g0159 a0001c0001t0003g0160 a0001c0001t0004g0004 a0001c0001t0004g0163 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0012g0137 a0001c0001t0013g0129 a0001c0002t0002g0130 a0001c0002t0002g0138 a0001c0009t0001g0131 a0005c0006t0001g0156 a0005c0006t0001g0167 a0010c0014t0001g0135	45	356	0.1264	-7	c.-15 others(26): Show c.-15+14997_-15+15003delCTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5449455	TTCAACAA TTCAACAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show HG02451.hp2 HG02922.hp2 HG03471.hp2 HG03704.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0023 a0001c0002 a0009c0023	a0001c0002t0001 a0001c0002t0002 a0009c0023t0005 a0001c0002t0001 a0001c0002t0002 a0009c0023t0005	a0001c0002t0001g0026 a0001c0002t0002g0008 a0001c0002t0002g0164 others(1): Show a0001c0002t0001g0026 a0001c0002t0002g0008 a0001c0002t0002g0164 a0009c0023t0005g0014	4	222	0.0180	-7	c.382 others(24): Show c.382-4218_382-4212delTTGTTGA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	3/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5484086	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02074.hp1 others(8): Show HG01884.hp1 HG02055.hp2 HG02074.hp1 HG02280.hp1 HG02486.hp1 HG02809.hp2 HG03579.hp2 HG03704.hp1 NA18978.hp1 NA19010.hp2 NA19043.hp1	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0015	a0001c0001 a0001c0002 a0001c0020 others(3): Show a0001c0001 a0001c0002 a0001c0020 a0008c0009 a0009c0023 a0015c0013	a0001c0001t0001 a0001c0002t0002 a0001c0020t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0020t0001 a0008c0009t0002 a0009c0023t0005 a0015c0013t0001	a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0002t0002g0027 others(8): Show a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0020t0001g0198 a0008c0009t0002g0020 a0008c0009t0002g0165 a0009c0023t0005g0014 a0015c0013t0001g0125	11	222	0.0496	-7	c.183 others(24): Show c.183+4908_183+4914delTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5502030	CCCTCCTG CCCTCCTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00735.hp2 others(38): Show HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01516.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02300.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 NA18522.hp1 NA18906.hp1 NA18964.hp1 NA18998.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp2 NA19240.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0008 a0010 a0012 a0013 a0015	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0018 a0002c0003 a0002c0022 a0003c0004 a0007c0011 a0008c0009 a0010c0017 a0012c0019 a0013c0016 a0015c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0005t0004 a0001c0018t0001 a0002c0003t0002 a0002c0003t0003 a0002c0022t0001 a0003c0004t0002 a0007c0011t0002 a0008c0009t0002 a0010c0017t0002 a0012c0019t0001 a0013c0016t0001 a0015c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0030 others(38): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0001g0212 a0001c0001t0003g0081 a0001c0001t0005g0168 a0001c0002t0001g0041 a0001c0002t0002g0006 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0049 a0001c0002t0002g0177 a0001c0002t0010g0031 a0001c0002t0012g0067 a0001c0005t0004g0169 a0001c0005t0004g0175 a0001c0018t0001g0044 a0002c0003t0002g0036 a0002c0003t0003g0076 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0080 a0002c0022t0001g0082 a0003c0004t0002g0150 a0007c0011t0002g0050 a0008c0009t0002g0020 a0010c0017t0002g0032 a0012c0019t0001g0099 a0013c0016t0001g0152 a0015c0013t0001g0125	41	222	0.1847	-7	c.-11 others(26): Show c.-11-12843_-11-12837delCAGGAGG	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5541481	AATATACT AATATACT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02717.hp2 others(8): Show HG01891.hp2 HG02109.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp2 HG03704.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0009c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0005t0004 a0002c0003t0002 a0003c0004t0002 a0003c0004t0005 a0009c0023t0005	a0001c0001t0001g0010 a0001c0001t0002g0011 a0001c0002t0002g0006 others(8): Show a0001c0001t0001g0010 a0001c0001t0002g0011 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0188 a0001c0005t0004g0013 a0002c0003t0002g0009 a0003c0004t0002g0007 a0003c0004t0005g0005 a0009c0023t0005g0014	11	222	0.0496	-7	c.-12 others(24): Show c.-12+2425_-12+2431delAGTATAT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112261045	GTTTTCTT GTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00621.hp2 others(23): Show HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01261.hp2 HG02040.hp2 HG02055.hp2 HG02132.hp2 HG02155.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02970.hp1 HG03471.hp1 HG03834.hp1 HG04199.hp2 NA18950.hp2 NA18979.hp1 NA18988.hp1 NA18995.hp1 NA19003.hp2 NA19010.hp1 NA19043.hp1 NA19057.hp2	a0001 a0002 a0008 others(4): Show a0001 a0002 a0008 a0009 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0021 others(6): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0008c0009 a0009c0029 a0014c0028 a0015c0027 a0016c0019	a0001c0001t0038 a0001c0002t0003 a0001c0002t0005 others(10): Show a0001c0001t0038 a0001c0002t0003 a0001c0002t0005 a0001c0002t0039 a0001c0002t0041 a0001c0021t0002 a0002c0003t0026 a0008c0009t0010 a0008c0009t0023 a0009c0029t0010 a0014c0028t0003 a0015c0027t0010 a0016c0019t0010	a0001c0001t0038g0169 a0001c0002t0003g0097 a0001c0002t0003g0101 others(23): Show a0001c0001t0038g0169 a0001c0002t0003g0097 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0118 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0039g0173 a0001c0002t0041g0082 a0001c0021t0002g0016 a0002c0003t0026g0003 a0008c0009t0010g0049 a0008c0009t0010g0050 a0008c0009t0023g0202 a0009c0029t0010g0037 a0014c0028t0003g0163 a0015c0027t0010g0036 a0016c0019t0010g0011	26	228	0.1140	-7	c.643 others(24): Show c.643-1073_643-1067delAAGAAAA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	7/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp1 others(21): Show HG00323.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01346.hp1 HG01515.hp1 HG01981.hp1 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0016	a0001c0001 a0001c0002 a0002c0003 others(7): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0003c0005 a0004c0010 a0004c0011 a0006c0016 a0007c0017 a0016c0019	a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0015 a0002c0003t0019 a0002c0008t0001 a0003c0005t0009 a0003c0005t0013 a0004c0010t0011 a0004c0011t0001 a0006c0016t0001 a0007c0017t0002 a0016c0019t0010	a0001c0001t0002g0020 a0001c0001t0006g0013 a0001c0001t0006g0040 others(21): Show a0001c0001t0002g0020 a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0017g0004 a0001c0001t0017g0048 a0001c0001t0028g0014 a0001c0001t0029g0005 a0001c0002t0001g0216 a0001c0002t0015g0046 a0002c0003t0019g0073 a0002c0008t0001g0132 a0003c0005t0009g0025 a0003c0005t0009g0030 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0027 a0003c0005t0013g0032 a0004c0010t0011g0080 a0004c0011t0001g0152 a0004c0011t0001g0153 a0006c0016t0001g0130 a0007c0017t0002g0029 a0016c0019t0010g0011	24	228	0.1053	-7	c.100 others(24): Show c.100-7022_100-7016delTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112360292	CTCCCCTT CTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02922.hp2 others(3): Show HG02055.hp1 HG02717.hp1 HG02922.hp2 HG03209.hp2 HG03516.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0018 a0001c0001t0040 a0002c0003t0026 others(2): Show a0001c0001t0018 a0001c0001t0040 a0002c0003t0026 a0002c0007t0002 a0002c0007t0030	a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0040g0137 others(3): Show a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0040g0137 a0002c0003t0026g0003 a0002c0007t0002g0052 a0002c0007t0030g0053	6	228	0.0263	-7	c.100 others(26): Show c.100-52809_100-52803delAAGGGGA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408712	AAAAAAAG AAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00609.hp2 others(37): Show HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01168.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03831.hp2 HG03942.hp2 NA18950.hp2 NA18970.hp2 NA18983.hp1 NA19062.hp1 NA19062.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0016	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0005 a0004c0011 a0005c0006 a0010c0025 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0022 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0032 a0001c0002t0050 a0002c0003t0001 a0002c0003t0012 a0003c0004t0004 a0003c0004t0023 a0003c0005t0009 a0003c0005t0013 a0004c0011t0001 a0005c0006t0004 a0010c0025t0001 a0016c0019t0010	a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 others(37): Show a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0043 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0007g0141 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0022g0209 a0001c0001t0040g0137 a0001c0002t0001g0083 a0001c0002t0001g0143 a0001c0002t0002g0012 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0198 a0001c0002t0005g0142 a0001c0002t0005g0150 a0001c0002t0032g0042 a0001c0002t0050g0225 a0002c0003t0001g0155 a0002c0003t0012g0215 a0003c0004t0004g0149 a0003c0004t0023g0151 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0027 a0003c0005t0013g0028 a0004c0011t0001g0152 a0004c0011t0001g0153 a0005c0006t0004g0207 a0005c0006t0004g0208 a0005c0006t0004g0210 a0010c0025t0001g0138 a0016c0019t0010g0011	40	228	0.1754	-7	c.99+ others(24): Show c.99+10222_99+10228delCTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41_chr1_28909569_29125041	29020900	CCCAAGGT CCCAAGGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03225.hp1 NA21309.hp2 HG01255.hp1 HG03225.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0128 a0001c0004t0009g0134 a0001c0004t0009g0141 a0001c0004t0009g0128 a0001c0004t0009g0134 a0001c0004t0009g0141	3	312	0.0096	-7	c.112 others(26): Show c.1124+2459_1124+2465delCCAAGGT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	7/20			chr1	TogoVar
EPC1_chr10_32262751_32352158	32270821	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02970.hp1 others(3): Show HG01167.hp1 HG02109.hp1 HG02970.hp1 HG03471.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0057 others(3): Show a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0060	6	318	0.0189	-7	c.236 others(24): Show c.2369+726_2369+732delTTTTTTT	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	13/13			chr10	TogoVar

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