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
ENPP2_chr8_119552086_119643839	119626478	GCAGGGTG others(7): Show GCAGGGTGGCCACTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(13): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG02145.hp1 HG02572.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0003 a0001c0006t0001 a0001c0012t0001	a0001c0001t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 others(13): Show a0001c0001t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0256 a0001c0004t0003g0043 a0001c0006t0001g0287 a0001c0012t0001g0073 a0001c0012t0001g0074	16	340	0.0471	-14	c.292 others(27): Show c.292+73_292+86delGAGTGGCCACCCTG	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	3/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131646274	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0095 a0003c0008t0002g0095	1	278	0.0036	-14	c.155 others(31): Show c.155-3731_155-3718delGTGTGTGTGTGTGT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131717349	GGGGTGTG others(7): Show GGGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG02976.hp2 others(2): Show HG00423.hp1 HG01192.hp2 HG02976.hp2 NA18955.hp1 NA19080.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0003c0005 a0001c0002 a0002c0006 a0003c0005	a0001c0002t0001 a0002c0006t0002 a0003c0005t0001 a0001c0002t0001 a0002c0006t0002 a0003c0005t0001	a0001c0002t0001g0040 a0001c0002t0001g0084 a0001c0002t0001g0086 others(2): Show a0001c0002t0001g0040 a0001c0002t0001g0084 a0001c0002t0001g0086 a0002c0006t0002g0052 a0003c0005t0001g0096	5	278	0.0180	-14	c.141 others(33): Show c.1413-1321_1413-1308delGGTGTGTGTGTGTG	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184101304	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG01069.hp1 others(42): Show HG00609.hp1 HG00642.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG03942.hp2 NA18979.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0016 a0001c0003t0017 a0002c0001t0001 a0002c0001t0002 a0002c0001t0011 a0002c0001t0026	a0001c0002t0001g0128 a0001c0002t0001g0267 a0001c0002t0002g0029 others(42): Show a0001c0002t0001g0128 a0001c0002t0001g0267 a0001c0002t0002g0029 a0001c0002t0002g0301 a0001c0003t0003g0009 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0070 a0001c0003t0003g0097 a0001c0003t0003g0113 a0001c0003t0003g0119 a0001c0003t0003g0133 a0001c0003t0003g0312 a0001c0003t0004g0017 a0001c0003t0004g0079 a0001c0003t0004g0135 a0001c0003t0004g0243 a0001c0003t0004g0268 a0001c0003t0004g0309 a0001c0003t0007g0019 a0001c0003t0007g0064 a0001c0003t0007g0065 a0001c0003t0007g0305 a0001c0003t0016g0278 a0001c0003t0017g0165 a0002c0001t0001g0013 a0002c0001t0001g0032 a0002c0001t0001g0037 a0002c0001t0001g0044 a0002c0001t0001g0046 a0002c0001t0001g0053 a0002c0001t0001g0061 a0002c0001t0001g0111 a0002c0001t0001g0120 a0002c0001t0001g0231 a0002c0001t0001g0233 a0002c0001t0001g0258 a0002c0001t0001g0271 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0299 a0002c0001t0002g0115 a0002c0001t0002g0141 a0002c0001t0011g0176 a0002c0001t0026g0033	45	320	0.1406	-14	c.994 others(31): Show c.994-3950_994-3937delCACACACACACACA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	6/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184101338	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02300.hp2 HG02723.hp1 others(2): Show HG01975.hp1 HG02300.hp2 HG02723.hp1 HG03041.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0003 a0001c0003t0014 a0004c0006t0014 a0001c0003t0003 a0001c0003t0014 a0004c0006t0014	a0001c0003t0003g0024 a0001c0003t0003g0121 a0001c0003t0003g0130 others(2): Show a0001c0003t0003g0024 a0001c0003t0003g0121 a0001c0003t0003g0130 a0001c0003t0014g0167 a0004c0006t0014g0244	5	320	0.0156	-14	c.994 others(31): Show c.994-3984_994-3971delTACACACACACACA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	6/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184119312	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp1 others(86): Show HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0017 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0001t0022 a0005c0008t0001	a0001c0002t0001g0128 a0001c0002t0001g0137 a0001c0002t0001g0151 others(86): Show a0001c0002t0001g0128 a0001c0002t0001g0137 a0001c0002t0001g0151 a0001c0002t0001g0267 a0001c0002t0002g0007 a0001c0002t0002g0048 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0089 a0001c0002t0002g0153 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0002g0201 a0001c0002t0002g0208 a0001c0002t0002g0210 a0001c0002t0002g0222 a0001c0002t0002g0260 a0001c0002t0002g0277 a0001c0002t0002g0289 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0008g0129 a0001c0002t0009g0054 a0001c0002t0009g0142 a0001c0003t0003g0014 a0001c0003t0003g0070 a0001c0003t0003g0086 a0001c0003t0003g0119 a0001c0003t0003g0133 a0001c0003t0003g0219 a0001c0003t0003g0312 a0001c0003t0004g0010 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0135 a0001c0003t0004g0241 a0001c0003t0004g0268 a0001c0003t0007g0019 a0001c0003t0017g0165 a0002c0001t0001g0013 a0002c0001t0001g0030 a0002c0001t0001g0032 a0002c0001t0001g0037 a0002c0001t0001g0046 a0002c0001t0001g0061 a0002c0001t0001g0095 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0109 a0002c0001t0001g0112 a0002c0001t0001g0120 a0002c0001t0001g0122 a0002c0001t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0136 a0002c0001t0001g0187 a0002c0001t0001g0189 a0002c0001t0001g0192 a0002c0001t0001g0215 a0002c0001t0001g0220 a0002c0001t0001g0224 a0002c0001t0001g0231 a0002c0001t0001g0233 a0002c0001t0001g0240 a0002c0001t0001g0271 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0285 a0002c0001t0001g0310 a0002c0001t0001g0313 a0002c0001t0001g0315 a0002c0001t0002g0096 a0002c0001t0002g0115 a0002c0001t0006g0066 a0002c0001t0006g0148 a0002c0001t0006g0150 a0002c0001t0006g0169 a0002c0001t0006g0181 a0002c0001t0006g0255 a0002c0001t0022g0212 a0005c0008t0001g0193	89	320	0.2781	-14	c.534 others(31): Show c.534-1426_534-1413delACACACACACACAC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184132828	CACACACA others(7): Show CACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0310 a0002c0001t0001g0310	1	320	0.0031	-14	c.422 others(31): Show c.422-8570_422-8557delATATATATGTGTGT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(47): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp1 HG01074.hp1 HG01192.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp2 NA18941.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19066.hp2 NA19074.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0013	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0020 a0006c0014 a0008c0015 a0013c0025	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0002c0001t0001 a0002c0001t0002 a0002c0020t0001 a0006c0014t0001 a0008c0015t0001 a0013c0025t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0012 others(39): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0003t0001g0001 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0038 a0001c0003t0001g0061 a0001c0003t0001g0211 a0001c0003t0002g0017 a0001c0004t0002g0007 a0002c0001t0001g0010 a0002c0001t0001g0015 a0002c0001t0001g0025 a0002c0001t0001g0028 a0002c0001t0001g0030 a0002c0001t0001g0051 a0002c0001t0001g0059 a0002c0001t0001g0130 a0002c0001t0001g0132 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0157 a0002c0001t0001g0164 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0179 a0002c0001t0001g0182 a0002c0001t0001g0184 a0002c0001t0002g0004 a0002c0001t0002g0021 a0002c0001t0002g0029 a0002c0001t0002g0043 a0002c0001t0002g0049 a0002c0001t0002g0112 a0002c0020t0001g0014 a0006c0014t0001g0094 a0008c0015t0001g0235 a0013c0025t0001g0210	50	430	0.1163	-14	c.44 others(25): Show c.4419_*4432delAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03516.hp2 NA18522.hp2 HG02886.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181	3	218	0.0138	-14	c.833 others(29): Show c.833-424_833-411delTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39879462	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	218	0.0046	-14	c.349 others(31): Show c.349+7924_349+7937delTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	2/6			chr22	TogoVar
ENTPD3_chr3_40382184_40433744	40388572	GCACACAC others(7): Show GCACACACACACAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG02056.hp1 others(10): Show HG00438.hp2 HG01256.hp2 HG02056.hp1 HG02074.hp1 HG02257.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp2 NA18952.hp1 NA18953.hp2 NA18977.hp2 NA19063.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0042 a0002c0002t0002g0126 others(9): Show a0002c0002t0002g0026 a0002c0002t0002g0042 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135	13	374	0.0348	-14	c.40+ others(27): Show c.40+488_40+501delGACACACACACACA	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD3_chr3_40382184_40433744	40388585	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02809.hp2 others(2): Show HG02451.hp2 HG02630.hp2 HG02809.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0016 a0001c0004t0002g0043 a0001c0004t0002g0044 others(1): Show a0001c0004t0002g0016 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0045	5	374	0.0134	-14	c.40+ others(27): Show c.40+515_40+528delACACACACACACAC	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD6_chr20_25190712_25233075	25198730	GCCACGTC others(7): Show GCCACGTCTCTTCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(129): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03490.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0006c0008 a0007c0010 a0008c0009	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(15): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0013 a0002c0002t0016 a0002c0002t0020 a0002c0002t0021 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0005t0010 a0006c0008t0001 a0007c0010t0001 a0008c0009t0001	a0001c0001t0002g0086 a0002c0002t0001g0001 a0002c0002t0001g0007 others(73): Show a0001c0001t0002g0086 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0041 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0142 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0002g0067 a0002c0002t0002g0108 a0002c0002t0002g0115 a0002c0002t0003g0011 a0002c0002t0003g0039 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0208 a0002c0002t0003g0212 a0002c0002t0005g0097 a0002c0002t0006g0022 a0002c0002t0006g0035 a0002c0002t0006g0084 a0002c0002t0006g0085 a0002c0002t0006g0167 a0002c0002t0013g0022 a0002c0002t0016g0021 a0002c0002t0020g0076 a0002c0002t0021g0191 a0002c0002t0031g0020 a0002c0002t0032g0068 a0002c0002t0033g0007 a0002c0002t0035g0117 a0002c0005t0010g0190 a0002c0005t0010g0192 a0002c0005t0010g0205 a0006c0008t0001g0111 a0007c0010t0001g0036 a0008c0009t0001g0082	132	380	0.3474	-14	c.-16 others(31): Show c.-16+2867_-16+2880delCGTCTCTTCTCCCA	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENTPD6_chr20_25190712_25233075	25200817	ACTTTTTT others(7): Show ACTTTTTTCCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0207 a0001c0001t0022g0206 a0001c0001t0002g0207 a0001c0001t0022g0206	2	380	0.0053	-14	c.-16 others(31): Show c.-16+4971_-16+4984delTCCTCCTCCTTTTT	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENTPD7_chr10_99654509_99716241	99660526	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0177 a0001c0001t0040g0177	1	408	0.0025	-14	c.8+5 others(25): Show c.8+585_8+598delCACACACACACACA	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD7_chr10_99654509_99716241	99696961	ATGAAAGG others(7): Show ATGAAAGGGCAGGGC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	408	0.0025	-14	c.101 others(31): Show c.1010+843_1010+856delAAGGGCAGGGCTGA	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD7_chr10_99654509_99716241	99700400	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(65): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01517.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 NA18942.hp1 NA18943.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18993.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0007 others(1): Show a0001c0001 a0001c0003 a0004c0007 a0005c0012	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0003t0001 a0004c0007t0001 a0005c0012t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 others(50): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0005g0316 a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0016g0166 a0001c0001t0021g0226 a0001c0001t0023g0170 a0001c0001t0026g0169 a0001c0001t0027g0204 a0001c0003t0001g0098 a0004c0007t0001g0102 a0005c0012t0002g0191	68	408	0.1667	-14	c.133 others(31): Show c.1336-559_1336-546delATGTGTGTGTGTGT	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD7_chr10_99654509_99716241	99715927	ATTAATCT others(7): Show ATTAATCTTTTAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	408	0.0025	-14	c.11 others(27): Show c.11245_*11258delTTAATCTTTTAATT	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding		4687		chr10	TogoVar
ENTREP1_chr9_69320215_69397456	69370056	AGTGAAGA others(7): Show AGTGAAGAGATTTTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG03516.hp1 others(1): Show HG02559.hp2 HG03098.hp1 HG03516.hp1 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0006 a0006c0005 a0001c0001 a0003c0006 a0006c0005	a0001c0001t0001 a0003c0006t0001 a0006c0005t0001 a0001c0001t0001 a0003c0006t0001 a0006c0005t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0003c0006t0001g0210 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0003c0006t0001g0210 a0006c0005t0001g0222	4	342	0.0117	-14	c.472 others(31): Show c.472-1441_472-1428delTGAAGAGATTTTGG	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29142138	CTCCCCTG others(7): Show CTCCCCTGGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0008 a0008	a0008c0040 a0008c0040	a0008c0040t0012 a0008c0040t0012	a0008c0040t0012g0025 a0008c0040t0012g0025	1	125	0.0080	-14	c.631 others(31): Show c.631-4958_631-4945delAGCCAGCCAGGGGA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	5/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29568710	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00642.hp1 others(25): Show HG00423.hp1 HG00558.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02818.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp2 NA18906.hp2 NA19030.hp1 NA19065.hp1 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0008 others(12): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0019 a0001c0039 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0003c0007 a0003c0034 a0005c0016 a0007c0022 a0010c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0045 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0008t0007 a0001c0011t0010 a0001c0011t0031 a0001c0019t0001 a0001c0039t0038 a0002c0003t0034 a0002c0004t0003 a0002c0005t0005 a0002c0009t0003 a0003c0007t0042 a0003c0034t0002 a0005c0016t0006 a0007c0022t0017 a0010c0036t0041	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 others(25): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0060 a0001c0001t0045g0034 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0002g0040 a0001c0008t0007g0039 a0001c0011t0010g0053 a0001c0011t0031g0035 a0001c0019t0001g0033 a0001c0019t0001g0058 a0001c0039t0038g0049 a0002c0003t0034g0059 a0002c0004t0003g0048 a0002c0004t0003g0052 a0002c0005t0005g0057 a0002c0009t0003g0050 a0003c0007t0042g0038 a0003c0034t0002g0046 a0005c0016t0006g0079 a0007c0022t0017g0043 a0010c0036t0041g0051	28	125	0.2240	-14	c.219 others(31): Show c.219+1781_219+1794delTTTTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155258318	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA20752.hp2 HG01167.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0080 a0001c0001t0002g0013 a0001c0001t0002g0080	2	395	0.0051	-14	c.-34 others(25): Show c.-3455_-3442delAAAAAAAAAAAAAA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding		2836		chr1	TogoVar
ENY2_chr8_109329347_109350954	109349396	GTTATATA others(7): Show GTTATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02258.hp1 others(6): Show HG01167.hp1 HG02109.hp2 HG02258.hp1 HG02622.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0047 a0001c0001t0001g0089 a0001c0001t0001g0007 a0001c0001t0001g0047 a0001c0001t0001g0089	9	428	0.0210	-14	c.59 others(25): Show c.5916_*5929delTTATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
EOGT_chr3_68970225_69018684	68972488	CTCGGGTG others(7): Show CTCGGGTGCCTGGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(152): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0044 a0001c0001t0045 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0053 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0011 a0001c0003t0012 a0001c0003t0014 a0001c0004t0012 a0001c0004t0013 a0001c0004t0014 a0001c0004t0035 a0001c0004t0038 a0001c0009t0004 a0001c0009t0006 a0001c0009t0054 a0001c0009t0061 a0001c0011t0004 a0001c0014t0058 a0001c0015t0003 a0002c0006t0010	a0001c0001t0001g0174 a0001c0001t0003g0016 a0001c0001t0003g0040 others(130): Show a0001c0001t0001g0174 a0001c0001t0003g0016 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0098 a0001c0001t0003g0108 a0001c0001t0003g0185 a0001c0001t0003g0214 a0001c0001t0003g0391 a0001c0001t0004g0003 a0001c0001t0004g0065 a0001c0001t0004g0080 a0001c0001t0006g0015 a0001c0001t0006g0096 a0001c0001t0006g0172 a0001c0001t0009g0262 a0001c0001t0010g0061 a0001c0001t0011g0173 a0001c0001t0011g0180 a0001c0001t0011g0189 a0001c0001t0012g0093 a0001c0001t0012g0106 a0001c0001t0013g0009 a0001c0001t0013g0090 a0001c0001t0013g0097 a0001c0001t0014g0066 a0001c0001t0020g0008 a0001c0001t0020g0094 a0001c0001t0020g0100 a0001c0001t0023g0068 a0001c0001t0027g0006 a0001c0001t0028g0251 a0001c0001t0028g0252 a0001c0001t0029g0044 a0001c0001t0030g0010 a0001c0001t0034g0083 a0001c0001t0034g0162 a0001c0001t0044g0269 a0001c0001t0045g0175 a0001c0001t0055g0179 a0001c0001t0057g0331 a0001c0001t0060g0091 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0273 a0001c0002t0001g0290 a0001c0002t0001g0304 a0001c0002t0003g0225 a0001c0002t0003g0296 a0001c0002t0003g0333 a0001c0002t0003g0342 a0001c0002t0003g0355 a0001c0002t0003g0376 a0001c0002t0004g0029 a0001c0002t0004g0284 a0001c0002t0004g0297 a0001c0002t0004g0307 a0001c0002t0004g0324 a0001c0002t0004g0362 a0001c0002t0006g0021 a0001c0002t0006g0285 a0001c0002t0006g0300 a0001c0002t0006g0306 a0001c0002t0010g0272 a0001c0002t0011g0030 a0001c0002t0014g0020 a0001c0002t0014g0294 a0001c0002t0018g0292 a0001c0002t0018g0344 a0001c0002t0018g0365 a0001c0002t0018g0366 a0001c0002t0021g0293 a0001c0002t0023g0043 a0001c0002t0023g0046 a0001c0002t0053g0295 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0014 a0001c0003t0003g0117 a0001c0003t0003g0120 a0001c0003t0003g0127 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0161 a0001c0003t0003g0166 a0001c0003t0004g0012 a0001c0003t0004g0126 a0001c0003t0004g0139 a0001c0003t0004g0141 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0158 a0001c0003t0004g0159 a0001c0003t0004g0267 a0001c0003t0006g0054 a0001c0003t0006g0125 a0001c0003t0011g0145 a0001c0003t0011g0157 a0001c0003t0012g0084 a0001c0003t0014g0140 a0001c0004t0012g0078 a0001c0004t0012g0101 a0001c0004t0013g0079 a0001c0004t0013g0085 a0001c0004t0013g0088 a0001c0004t0014g0116 a0001c0004t0035g0114 a0001c0004t0035g0115 a0001c0004t0038g0041 a0001c0009t0004g0368 a0001c0009t0004g0374 a0001c0009t0006g0373 a0001c0009t0054g0314 a0001c0009t0061g0356 a0001c0011t0004g0102 a0001c0011t0004g0133 a0001c0014t0058g0105 a0001c0015t0003g0081 a0002c0006t0010g0022 a0002c0006t0010g0023 a0002c0006t0010g0321	155	444	0.3491	-14	c.51 others(25): Show c.5116_*5129delTTCCAGGCACCCGA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2736		chr3	TogoVar
EOGT_chr3_68970225_69018684	68986570	ACATTTGA others(7): Show ACATTTGACTCTGCC	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	444	0.0023	-14	c.115 others(31): Show c.1152+861_1152+874delGGCAGAGTCAAATG	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	14/17			chr3	TogoVar
EOGT_chr3_68970225_69018684	69016267	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02451.hp2 others(6): Show HG01243.hp2 HG02109.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0017t0041	a0001c0002t0001g0273 a0001c0002t0005g0271 a0001c0002t0005g0274 others(6): Show a0001c0002t0001g0273 a0001c0002t0005g0271 a0001c0002t0005g0274 a0001c0002t0005g0275 a0001c0002t0005g0276 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0010g0272 a0001c0017t0041g0279	9	444	0.0203	-14	c.-30 others(25): Show c.-3063_-3050delTACACACACACACA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2584		chr3	TogoVar
EOMES_chr3_27710953_27727323	27720531	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18977.hp2 HG03831.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0087 a0002c0002t0002g0047 a0001c0001t0001g0087 a0002c0002t0002g0047	2	400	0.0050	-14	c.882 others(29): Show c.882-220_882-207delTTTTTTTTTTTTTT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5			chr3	TogoVar
EOMES_chr3_27710953_27727323	27722866	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	400	0.0050	-14	c.-58 others(23): Show c.-586_-573delAAAAAAAAAAAAAA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		544		chr3	TogoVar
EP300_chr22_41087592_41185077	41092298	GCTCGGCC others(7): Show GCTCGGCCCGGCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0129 a0001c0002t0059g0129	1	300	0.0033	-14	c.-70 others(23): Show c.-706_-693delCTCGGCCCGGCCCC	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding		293		chr22	TogoVar
EP300_chr22_41087592_41185077	41167578	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02738.hp2 HG03225.hp1 HG00099.hp1 HG02738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0005t0016 a0001c0001t0002 a0001c0001t0005 a0001c0005t0016	a0001c0001t0002g0237 a0001c0001t0005g0210 a0001c0005t0016g0135 a0001c0001t0002g0237 a0001c0001t0005g0210 a0001c0005t0016g0135	3	300	0.0100	-14	c.387 others(31): Show c.3875-869_3875-856delGTGTGTATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167582	GTGTATAT others(7): Show GTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02622.hp1 HG01496.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0271 a0001c0001t0011g0276 a0001c0001t0011g0271 a0001c0001t0011g0276	2	300	0.0067	-14	c.387 others(31): Show c.3875-865_3875-852delGTATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	300	0.0033	-14	c.387 others(31): Show c.3875-826_3875-813delTATATATATATATA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179880	TCACACAC others(7): Show TCACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(45): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp2 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp2 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA19043.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0002 a0001c0030 others(5): Show a0001c0001 a0001c0002 a0001c0030 a0002c0003 a0002c0027 a0002c0029 a0009c0025 a0010c0026	a0001c0001t0012 a0001c0002t0001 a0001c0030t0042 others(6): Show a0001c0001t0012 a0001c0002t0001 a0001c0030t0042 a0002c0003t0001 a0002c0003t0073 a0002c0027t0001 a0002c0029t0001 a0009c0025t0001 a0010c0026t0001	a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0292 others(45): Show a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0292 a0001c0001t0012g0293 a0001c0001t0012g0294 a0001c0001t0012g0295 a0001c0002t0001g0103 a0001c0030t0042g0041 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0104 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0175 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0073g0132 a0002c0027t0001g0179 a0002c0029t0001g0154 a0009c0025t0001g0139 a0010c0026t0001g0185	48	300	0.1600	-14	c.95 others(23): Show c.954_*967delACACACACACACAC	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31	954	INFO_REALIGN_3_PRIME	chr22	TogoVar
EPAS1_chr2_46292407_46391697	46332291	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0001 a0001c0001t0017 a0002c0002t0001	a0001c0001t0017g0302 a0002c0002t0001g0150 a0002c0002t0001g0179 a0001c0001t0017g0302 a0002c0002t0001g0150 a0002c0002t0001g0179	3	326	0.0092	-14	c.27- others(31): Show c.27-14553_27-14540delGTGTGTGTGTGTGT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46366311	TTGAGAGT others(7): Show TTGAGAGTAAAGAGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp1 NA20129.hp1 HG02717.hp1 HG02965.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0023 a0002c0002t0005 a0001c0001t0001 a0001c0001t0023 a0002c0002t0005	a0001c0001t0001g0050 a0001c0001t0023g0139 a0002c0002t0005g0016 a0001c0001t0001g0050 a0001c0001t0023g0139 a0002c0002t0005g0016	3	326	0.0092	-14	c.780 others(31): Show c.780-3515_780-3502delTGAGAGTAAAGAGC	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15			chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36188581	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG02071.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0178 a0001c0001t0001g0079 a0001c0001t0001g0178	2	236	0.0085	-14	c.102 others(31): Show c.1026+130_1026+143delCACACACACACACA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36188629	CACACACA others(7): Show CACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	236	0.0042	-14	c.102 others(31): Show c.1026+132_1026+145delCACACACACACAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36188631	CACACACA others(7): Show CACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01109.hp1 others(9): Show HG01069.hp2 HG01070.hp1 HG01109.hp1 HG01175.hp2 HG01361.hp2 HG01884.hp1 HG02004.hp1 HG02109.hp2 HG02615.hp1 HG02622.hp2 NA18950.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0002t0010 a0001c0001t0004 a0001c0002t0003 a0001c0002t0010	a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0121 others(8): Show a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0002t0003g0004 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0060 a0001c0002t0010g0086	12	236	0.0509	-14	c.102 others(31): Show c.1026+134_1026+147delCACACACACAGAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36232816	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp1 others(12): Show HG00738.hp2 HG01167.hp1 HG01169.hp1 HG02257.hp1 HG02615.hp2 HG02717.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0004 a0001c0001t0004 a0001c0011t0004	a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0014 others(8): Show a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0117 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0011t0004g0125	15	236	0.0636	-14	c.34 others(25): Show c.3477_*3490delCTCTCTCTCTCTCT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		18		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130848195	TCTCTCAC others(7): Show TCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	356	0.0028	-14	c.6- others(29): Show c.6-7611_*6-7598delTGTGTGTGTGAGAG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130848197	TCTCACAC others(7): Show TCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0006 a0001c0002t0002 a0001c0003t0006	a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0003t0006g0128 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0003t0006g0128	3	356	0.0084	-14	c.6- others(29): Show c.6-7613_*6-7600delTGTGTGTGTGTGAG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130867960	ACACACAC others(7): Show ACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18963.hp1 NA18980.hp2 others(2): Show HG02015.hp2 NA18963.hp1 NA18980.hp2 NA19000.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0002g0251	5	356	0.0140	-14	c.260 others(31): Show c.2608-393_2608-380delAGTGTGTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	15/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130867966	ACACACAC others(7): Show ACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01081.hp1 others(29): Show HG00642.hp2 HG00673.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02071.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp2 NA18955.hp1 NA19083.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0015t0002	a0001c0001t0002g0006 a0001c0001t0002g0120 a0001c0001t0002g0121 others(29): Show a0001c0001t0002g0006 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0159 a0001c0001t0002g0255 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0004g0163 a0001c0001t0004g0289 a0001c0001t0004g0300 a0001c0001t0006g0114 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0010g0002 a0001c0015t0002g0309	32	356	0.0899	-14	c.260 others(31): Show c.2608-399_2608-386delAGAGAGAGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	15/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130929857	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG02015.hp2 others(35): Show HG00423.hp2 HG00597.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG03831.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0019 a0008c0011 a0001c0001 a0006c0019 a0008c0011	a0001c0001t0001 a0006c0019t0001 a0008c0011t0001 a0001c0001t0001 a0006c0019t0001 a0008c0011t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(35): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0001g0246 a0006c0019t0001g0053 a0008c0011t0001g0040	38	356	0.1067	-14	c.706 others(31): Show c.706-3162_706-3149delTGTGTGTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG02965.hp1 HG02976.hp1 HG01952.hp2 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0064 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0064	3	222	0.0135	-14	c.34 others(25): Show c.3477_*3490delTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5484086	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	222	0.0045	-14	c.183 others(31): Show c.183+4901_183+4914delTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5505873	ACCTTCAC others(7): Show ACCTTCACCTCCACC	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	222	0.0045	-14	c.-11 others(33): Show c.-11-16693_-11-16680delGGTGGAGGTGAAGG	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5545873	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03669.hp1 HG06807.hp2 HG02572.hp2 HG03669.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 a0001c0001t0001 a0001c0002t0002 a0002c0003t0002	a0001c0001t0001g0024 a0001c0002t0002g0132 a0002c0003t0002g0036 a0001c0001t0001g0024 a0001c0002t0002g0132 a0002c0003t0002g0036	3	222	0.0135	-14	c.-19 others(25): Show c.-1986_-1973delCACACACACACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		1877		chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0011 a0004c0014t0011	a0004c0014t0011g0069 a0004c0014t0011g0070 a0004c0014t0011g0069 a0004c0014t0011g0070	2	228	0.0088	-14	c.100 others(31): Show c.100-7029_100-7016delTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112345776	TATATACA others(7): Show TATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0011 a0004c0010t0011	a0004c0010t0011g0080 a0004c0010t0011g0080	1	228	0.0044	-14	c.100 others(33): Show c.100-38300_100-38287delGTGTGTGTGTATAT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar

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