JoGo: Joint Open Genome and Omics Platform

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
HEATR5A_chr14_31286788_31425550	31336213	CATACATA others(13): Show CATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01074.hp1 others(12): Show HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01169.hp2 HG01257.hp2 HG01891.hp1 HG01993.hp2 HG02109.hp2 HG02559.hp1 HG02683.hp1 HG03098.hp2 HG03225.hp2 NA18961.hp1 NA19006.hp1 NA19030.hp1	a0002 a0003 a0007 others(3): Show a0002 a0003 a0007 a0010 a0015 a0028	a0002c0002 a0003c0003 a0007c0006 others(3): Show a0002c0002 a0003c0003 a0007c0006 a0010c0010 a0015c0012 a0028c0026	a0002c0002t0001 a0002c0002t0011 a0003c0003t0001 others(5): Show a0002c0002t0001 a0002c0002t0011 a0003c0003t0001 a0007c0006t0006 a0007c0006t0018 a0010c0010t0007 a0015c0012t0007 a0028c0026t0001	a0002c0002t0001g0066 a0002c0002t0001g0086 a0002c0002t0001g0089 others(12): Show a0002c0002t0001g0066 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0192 a0002c0002t0011g0137 a0003c0003t0001g0241 a0003c0003t0001g0245 a0007c0006t0006g0339 a0007c0006t0018g0342 a0007c0006t0018g0345 a0010c0010t0007g0348 a0015c0012t0007g0346 a0028c0026t0001g0113	15	354	0.0424	-20	c.336 others(39): Show c.3367+1243_3367+1262delATATATATATATATATGTAT	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407580	TTATTTAT others(13): Show TTATTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 NA18522.hp1 HG02630.hp1 HG02970.hp2 NA18522.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0020 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0020	3	354	0.0085	-20	c.-74 others(37): Show c.-74-4551_-74-4532delTATATATATATATATAAATA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35			chr14	TogoVar
HEATR6_chr17_60036008_60083921	60048971	ACATATAT others(13): Show ACATATATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02896.hp1 others(3): Show HG02055.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0086 a0001c0001t0014 a0001c0001t0086	a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0192 others(3): Show a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0192 a0001c0001t0014g0194 a0001c0001t0014g0195 a0001c0001t0086g0193	6	250	0.0240	-20	c.254 others(37): Show c.2547+589_2548-584delATATATATTATATATATATG	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19			chr17	TogoVar
HEBP2_chr6_138399223_138427197	138403409	GTTCACAG others(13): Show GTTCACAGGGGCCTACTCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03579.hp1 NA19240.hp2 HG02622.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0072 a0001c0003t0027 a0001c0003t0072	a0001c0003t0027g0019 a0001c0003t0072g0030 a0001c0003t0027g0019 a0001c0003t0072g0030	3	316	0.0095	-20	c.-10 others(31): Show c.-1086_-1067delTTCACAGGGGCCTACTCCCC	HEBP2	ENSG00000051620.11	transcript	ENST00000607197.6	protein_coding		813		chr6	TogoVar
HECA_chr6_139130080_139185802	139154920	AATACAGT others(13): Show AATACAGTACTAAAGACTGAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01106.hp2 others(74): Show HG00621.hp2 HG00673.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18982.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0005t0004 a0002c0004t0004	a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0016 others(50): Show a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0174 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0005g0005 a0001c0001t0005g0031 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0193 a0001c0001t0005g0196 a0001c0001t0007g0015 a0001c0001t0007g0034 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0195 a0001c0001t0017g0179 a0001c0001t0017g0180 a0001c0001t0018g0005 a0001c0001t0023g0214 a0001c0001t0036g0003 a0001c0001t0037g0175 a0001c0001t0038g0192 a0001c0001t0039g0210 a0001c0005t0004g0185 a0001c0005t0004g0218 a0002c0004t0004g0182 a0002c0004t0004g0208	77	314	0.2452	-20	c.272 others(39): Show c.272-11361_272-11342delACAGTACTAAAGACTGACAT	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
HECTD1_chr14_31095117_31212793	31134551	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	342	0.0029	-20	c.357 others(37): Show c.3578+301_3578+320delGCGCACACACACACACACAC	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31188089	GTAGATAG others(13): Show GTAGATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0247 a0001c0003t0001g0247	1	342	0.0029	-20	c.141 others(37): Show c.141-9855_141-9836delTCTATCTATCTATCTATCTA	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112200849	ATGTGTGC others(13): Show ATGTGTGCGTGCGTGCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0008 a0001c0031t0008	a0001c0031t0008g0251 a0001c0031t0008g0251	1	270	0.0037	-20	c.840 others(35): Show c.8407-71_8407-52delCACACGCACGCACGCACACA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	54/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112207108	GTGTGTGT others(13): Show GTGTGTGTGTGTATGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG03453.hp1 others(2): Show HG02055.hp2 HG02572.hp2 HG03453.hp1 HG03579.hp1 NA18906.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0004 a0012c0027 a0001c0001 a0002c0004 a0012c0027	a0001c0001t0004 a0002c0004t0004 a0012c0027t0004 a0001c0001t0004 a0002c0004t0004 a0012c0027t0004	a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 others(2): Show a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0002c0004t0004g0063 a0012c0027t0004g0066	5	270	0.0185	-20	c.813 others(37): Show c.8131+746_8131+765delTACATACATACACACACACA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	52/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323957	TCTTTCTT others(13): Show TCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03654.hp1 HG00738.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0002 a0001c0003t0002 a0002c0006t0002	a0001c0003t0002g0080 a0002c0006t0002g0126 a0001c0003t0002g0080 a0002c0006t0002g0126	2	270	0.0074	-20	c.178 others(37): Show c.178-4235_178-4216delGAAGGAAGGAAGAAAGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112334207	TTAAATAA others(13): Show TTAAATAAATAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	270	0.0037	-20	c.178 others(39): Show c.178-14485_178-14466delTTTATTTATTTATTTATTTA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43159105	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG02015.hp2 others(13): Show HG00408.hp2 HG00639.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02165.hp2 HG03834.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA19009.hp1 NA19066.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0024 a0001c0002t0003 a0001c0003t0002 a0001c0004t0002 a0001c0004t0013 a0001c0025t0031	a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0045 others(13): Show a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0022g0067 a0001c0001t0024g0070 a0001c0002t0003g0066 a0001c0002t0003g0069 a0001c0002t0003g0124 a0001c0003t0002g0018 a0001c0004t0002g0051 a0001c0004t0013g0068 a0001c0025t0031g0032	16	182	0.0879	-20	c.-32 others(39): Show c.-32+44726_-32+44745delATTTATTTATTTATTTATTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43237136	AGGAAGTA others(13): Show AGGAAGTAGGTAGGTAGGTAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02027.hp1 HG02056.hp2 others(3): Show HG00639.hp1 HG02027.hp1 HG02056.hp2 HG03239.hp2 NA18968.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0003t0002 a0001c0004t0002	a0001c0001t0002g0019 a0001c0001t0003g0162 a0001c0001t0004g0026 others(3): Show a0001c0001t0002g0019 a0001c0001t0003g0162 a0001c0001t0004g0026 a0001c0001t0022g0067 a0001c0003t0002g0018 a0001c0004t0002g0051	6	182	0.0330	-20	c.-31 others(37): Show c.-31-6737_-31-6718delGAAGTAGGTAGGTAGGTAGG	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43241612	ATGTATGT others(13): Show ATGTATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0163 a0001c0001t0005g0163	1	182	0.0055	-20	c.-31 others(37): Show c.-31-2259_-31-2240delATGTGTGTGTGTGTGTGTGT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43284186	TTTTTCCC others(13): Show TTTTTCCCAGATCTGAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02109.hp1 HG02630.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0003 a0003c0008t0010g0081 a0003c0008t0010g0003 a0003c0008t0010g0081	2	182	0.0110	-20	c.28- others(37): Show c.28-27571_28-27552delCCAGATCTGAAATAATTTTC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43341307	TATAAATA others(13): Show TATAAATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02922.hp1 others(2): Show HG01109.hp1 HG01884.hp1 HG02922.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0018 a0001c0002 a0001c0014 a0001c0018	a0001c0002t0007 a0001c0002t0023 a0001c0002t0028 others(2): Show a0001c0002t0007 a0001c0002t0023 a0001c0002t0028 a0001c0014t0001 a0001c0018t0001	a0001c0002t0007g0127 a0001c0002t0023g0134 a0001c0002t0028g0173 others(2): Show a0001c0002t0007g0127 a0001c0002t0023g0134 a0001c0002t0028g0173 a0001c0014t0001g0132 a0001c0018t0001g0129	5	182	0.0275	-20	c.461 others(39): Show c.461-19555_461-19536delAATAAATAAATAAATAAATA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43429289	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00621.hp1 others(41): Show HG00099.hp1 HG00558.hp2 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp2 NA18906.hp2 NA18942.hp1 NA18948.hp1 NA18952.hp1 NA18968.hp1 NA18968.hp2 NA18983.hp1 NA18992.hp2 NA19009.hp1 NA19087.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0001c0021 a0001c0027 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0021 a0001c0003t0001 a0001c0004t0001 a0001c0004t0009 a0001c0006t0003 a0001c0006t0004 a0001c0010t0002 a0001c0010t0034 a0001c0012t0007 a0001c0013t0006 a0001c0017t0003 a0001c0021t0029 a0001c0027t0011 a0003c0008t0001	a0001c0001t0001g0064 a0001c0001t0001g0114 a0001c0001t0001g0117 others(41): Show a0001c0001t0001g0064 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0160 a0001c0001t0003g0128 a0001c0001t0004g0001 a0001c0001t0004g0017 a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0057 a0001c0001t0005g0166 a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0016g0041 a0001c0001t0022g0067 a0001c0001t0030g0098 a0001c0002t0001g0141 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0118 a0001c0002t0003g0151 a0001c0002t0004g0040 a0001c0002t0005g0059 a0001c0002t0005g0167 a0001c0002t0005g0180 a0001c0002t0021g0112 a0001c0003t0001g0145 a0001c0004t0001g0061 a0001c0004t0009g0121 a0001c0006t0003g0096 a0001c0006t0004g0009 a0001c0010t0002g0054 a0001c0010t0002g0055 a0001c0010t0002g0056 a0001c0010t0034g0052 a0001c0012t0007g0079 a0001c0013t0006g0101 a0001c0013t0006g0158 a0001c0017t0003g0107 a0001c0021t0029g0093 a0001c0027t0011g0006 a0003c0008t0001g0133 a0003c0008t0001g0174	44	182	0.2418	-20	c.802 others(37): Show c.802-8686_802-8667delTATATATATATATATATATA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43488324	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01069.hp2 others(14): Show HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01517.hp1 HG02280.hp2 HG02735.hp2 HG03209.hp2 HG04228.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0009 a0002c0016 a0003c0008	a0001c0001t0012 a0001c0001t0024 a0001c0003t0001 others(8): Show a0001c0001t0012 a0001c0001t0024 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0026 a0001c0006t0001 a0001c0006t0019 a0002c0009t0001 a0002c0016t0006 a0003c0008t0001	a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0024g0070 others(14): Show a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0024g0070 a0001c0003t0001g0102 a0001c0003t0001g0120 a0001c0003t0001g0155 a0001c0003t0001g0164 a0001c0004t0001g0085 a0001c0004t0001g0108 a0001c0004t0002g0051 a0001c0004t0026g0148 a0001c0006t0001g0125 a0001c0006t0019g0073 a0002c0009t0001g0115 a0002c0009t0001g0137 a0002c0016t0006g0143 a0003c0008t0001g0174	17	182	0.0934	-20	c.323 others(39): Show c.3235-3693_3235-3674delGGAAGGAAGGAAGGAAGGAA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43488384	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAATG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	182	0.0055	-20	c.323 others(39): Show c.3235-3689_3235-3670delGGAAGGAAGGAAGGAAATGA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196273049	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01169.hp2 HG01358.hp1 others(18): Show HG00733.hp2 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0009 a0001c0003t0010 a0001c0003t0022 a0001c0004t0002 a0001c0006t0010 a0001c0010t0002 a0001c0019t0001	a0001c0001t0001g0084 a0001c0001t0002g0060 a0001c0001t0002g0061 others(18): Show a0001c0001t0001g0084 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0075 a0001c0001t0006g0026 a0001c0001t0025g0021 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0076 a0001c0002t0001g0104 a0001c0002t0002g0053 a0001c0002t0006g0010 a0001c0002t0006g0102 a0001c0003t0009g0073 a0001c0003t0010g0025 a0001c0003t0022g0100 a0001c0004t0002g0041 a0001c0006t0010g0083 a0001c0010t0002g0045 a0001c0019t0001g0103	21	112	0.1875	-20	c.323 others(37): Show c.3238+952_3238+971delAAAAAAAAAAAAAAAAAAAA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	16/28			chr2	TogoVar
HELLS_chr10_94540788_94607099	94580117	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(68): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01243.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18953.hp1 NA18964.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0116 others(65): Show a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0166 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0002t0001g0310	71	358	0.1983	-20	c.103 others(39): Show c.1033-1182_1033-1163delTATATATATATATATATATA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94580144	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19043.hp2 HG00639.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	2	358	0.0056	-20	c.103 others(39): Show c.1033-1180_1033-1161delTATATATATATATATATACA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94580146	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG03195.hp2 others(1): Show HG02145.hp1 HG02486.hp2 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 others(1): Show a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0058	4	358	0.0112	-20	c.103 others(39): Show c.1033-1178_1033-1159delTATATATATATATATACACA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELZ2_chr20_63553086_63579239	63559459	CAGTCAGG others(13): Show CAGTCAGGGTCAGGTGGGAGG	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	390	0.0026	-20	c.782 others(36): Show c.7826-109_7826-90delCCTCCCACCTGACCCTGACT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559527	AGTCAGGT others(13): Show AGTCAGGTGGGAGGAGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02622.hp1 HG03195.hp2 others(4): Show HG02602.hp2 HG02622.hp1 HG03195.hp2 NA18939.hp1 NA18983.hp2 NA18986.hp2 NA19081.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0060 a0002c0015 a0003c0044 others(1): Show a0001c0060 a0002c0015 a0003c0044 a0004c0008	a0001c0060t0008 a0002c0015t0007 a0002c0015t0022 others(2): Show a0001c0060t0008 a0002c0015t0007 a0002c0015t0022 a0003c0044t0010 a0004c0008t0015	a0001c0060t0008g0191 a0002c0015t0007g0028 a0002c0015t0007g0278 others(3): Show a0001c0060t0008g0191 a0002c0015t0007g0028 a0002c0015t0007g0278 a0002c0015t0022g0281 a0003c0044t0010g0184 a0004c0008t0015g0071	7	390	0.0180	-20	c.782 others(37): Show c.7826-177_7826-158delCCTGACTCCTCCCACCTGAC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HELZ_chr17_67065444_67250196	67109040	CCCAAAAT others(13): Show CCCAAAATGATATTATACAGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	274	0.0037	-20	c.448 others(35): Show c.4489+56_4489+75delACTGTATAATATCATTTTGG	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	29/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67125286	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp1 NA18942.hp2 others(1): Show HG03195.hp2 NA18906.hp1 NA18942.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0013 a0001c0003t0002 a0001c0001t0004 a0001c0001t0013 a0001c0003t0002	a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0013g0099 others(1): Show a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0013g0099 a0001c0003t0002g0094	4	274	0.0146	-20	c.338 others(39): Show c.3388-1292_3388-1273delTATATATATATATATATATA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67196608	GCATGGGT others(13): Show GCATGGGTGGGTGGATGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0273 a0001c0001t0034g0273	1	274	0.0037	-20	c.430 others(37): Show c.430-1158_430-1139delTTCCCATCCACCCACCCATG	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	7/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67216853	CTTCCTCT others(13): Show CTTCCTCTCACACTTTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03540.hp1 NA18522.hp2 HG01109.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0151 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0151	3	274	0.0110	-20	c.211 others(35): Show c.211-938_211-919delAGGGGAAAGTGTGAGAGGAA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	4/32			chr17	TogoVar
HENMT1_chr1_108643295_108666093	108655848	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18948.hp2 NA18962.hp2 others(1): Show NA18946.hp2 NA18948.hp2 NA18962.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0033 a0001c0001t0001g0119	4	442	0.0091	-20	c.151 others(35): Show c.151-170_151-151delGTGTGTGTGTGTGTGTGTGT	HENMT1	ENSG00000162639.16	transcript	ENST00000651461.1	protein_coding	3/7			chr1	TogoVar
HEPHL1_chr11_94016354_94119208	94019136	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(130): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0009 a0012 a0015 a0016 a0018 a0019	a0001c0001 a0001c0006 a0001c0023 others(9): Show a0001c0001 a0001c0006 a0001c0023 a0002c0002 a0003c0003 a0008c0011 a0009c0034 a0012c0017 a0015c0019 a0016c0024 a0018c0021 a0019c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0006t0006 a0001c0023t0001 a0002c0002t0003 a0003c0003t0003 a0008c0011t0001 a0009c0034t0003 a0012c0017t0001 a0015c0019t0001 a0016c0024t0002 a0018c0021t0002 a0019c0020t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0126 others(128): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0129 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0003g0003 a0001c0001t0003g0127 a0001c0001t0003g0147 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0203 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0277 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0241 a0001c0001t0005g0244 a0001c0001t0007g0130 a0001c0001t0008g0174 a0001c0001t0008g0229 a0001c0001t0011g0184 a0001c0001t0011g0192 a0001c0001t0013g0246 a0001c0001t0013g0247 a0001c0001t0016g0235 a0001c0006t0006g0132 a0001c0023t0001g0131 a0002c0002t0003g0167 a0003c0003t0003g0183 a0008c0011t0001g0181 a0008c0011t0001g0182 a0009c0034t0003g0249 a0012c0017t0001g0141 a0015c0019t0001g0233 a0016c0024t0002g0142 a0018c0021t0002g0179 a0019c0020t0002g0232	133	368	0.3614	-20	c.-22 others(31): Show c.-2232_-2213delTTTTTTTTTTTTTTTTTTTT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		2217		chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94060092	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0014 a0001c0007t0004g0014	1	368	0.0027	-20	c.416 others(37): Show c.416-3377_416-3358delTATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	CATATATA others(13): Show CATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01516.hp2 HG01517.hp2 HG00621.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0329 a0001c0001t0013g0246 a0001c0001t0013g0247 a0001c0001t0001g0329 a0001c0001t0013g0246 a0001c0001t0013g0247	3	368	0.0082	-20	c.36 others(31): Show c.3679_*3698delATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66208631	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02976.hp1 HG02723.hp2 HG02895.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0043 a0001c0002t0002g0047 a0001c0002t0002g0050	3	218	0.0138	-20	c.256 others(37): Show c.2563+412_2563+431delATATATATATATATATATAT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63744148	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTCTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18522.hp2 HG02896.hp1 NA18522.hp2	a0017 a0018 a0017 a0018	a0017c0033 a0018c0034 a0017c0033 a0018c0034	a0017c0033t0001 a0018c0034t0001 a0017c0033t0001 a0018c0034t0001	a0017c0033t0001g0101 a0018c0034t0001g0102 a0017c0033t0001g0101 a0018c0034t0001g0102	2	216	0.0093	-20	c.252 others(39): Show c.2520+2750_2520+2769delGAGACACACACACACACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28301729	GTATGTGT others(13): Show GTATGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02257.hp2 others(4): Show HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02622.hp2 HG03130.hp2 HG03579.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0012 others(4): Show a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0015 a0003c0004t0002g0022 a0003c0004t0002g0023	7	250	0.0280	-20	c.73- others(35): Show c.73-2233_73-2214delTATATATATATATACACATA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28301733	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02723.hp2 HG01099.hp2 HG02723.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0005 a0006c0018t0001 a0006c0018t0005	a0006c0018t0001g0093 a0006c0018t0005g0248 a0006c0018t0001g0093 a0006c0018t0005g0248	2	250	0.0080	-20	c.73- others(35): Show c.73-2237_73-2218delTATATATATATATATATACA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92			chr15	TogoVar
HERC3_chr4_88587480_88713539	88654348	TCATATAT others(13): Show TCATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02622.hp1 others(6): Show HG02145.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0006	a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 others(6): Show a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0004g0190 a0001c0001t0004g0244 a0001c0001t0005g0255 a0001c0004t0006g0285	9	296	0.0304	-20	c.777 others(35): Show c.777+216_777+235delCATATATATATATATATATA	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	7/25			chr4	TogoVar
HERC3_chr4_88587480_88713539	88674309	GCTGATTG others(13): Show GCTGATTGATGTCTGAAATAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0023 a0002c0003t0002g0023	1	296	0.0034	-20	c.191 others(39): Show c.1912-1905_1912-1886delATTGATGTCTGAAATAACTG	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	67927379	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02818.hp1 HG02922.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 a0001c0001t0001 a0001c0002t0002 a0001c0006t0002	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0002t0002g0004 others(2): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0006t0002g0002	5	360	0.0139	-20	c.283 others(39): Show c.2839-2212_2839-2193delATATATATATATATATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67927412	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03225.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007	3	360	0.0083	-20	c.283 others(39): Show c.2839-2245_2839-2226delAATATATATATATATATATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67927416	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	360	0.0028	-20	c.283 others(39): Show c.2839-2249_2839-2230delAAAAAATATATATATATATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059827	ATATTATA others(13): Show ATATTATATATTATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18989.hp1 NA18982.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0001g0096 a0001c0001t0001g0140	2	360	0.0056	-20	c.226 others(39): Show c.226+13036_226+13055delATATATTATAATATATAATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC6_chr4_88373852_88448097	88380377	ATATATAT others(13): Show ATATATATAATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0172 a0013c0018t0001g0172	1	174	0.0058	-20	c.199 others(37): Show c.199+1258_199+1277delTATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HERC6_chr4_88373852_88448097	88380383	ATAATATA others(13): Show ATAATATATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0052 a0012c0012t0001g0052	1	174	0.0058	-20	c.199 others(37): Show c.199+1264_199+1283delTAATATATAAATATATATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HERC6_chr4_88373852_88448097	88380392	AAATATAT others(13): Show AAATATATATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0050 a0009c0009t0001g0050	1	174	0.0058	-20	c.199 others(37): Show c.199+1275_199+1294delTATATATATATAATATATAA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERPUD2_chr7_35627659_35700135	35637160	AAGATAGA others(13): Show AAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0157 a0001c0001t0017g0157	1	392	0.0026	-20	c.617 others(37): Show c.617+1170_617+1189delATCTATCTATCTATCTATCT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	6/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35674398	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18994.hp1 NA19056.hp1 NA18959.hp2 NA18994.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0014g0125 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0014g0125	3	392	0.0077	-20	c.148 others(37): Show c.148-1140_148-1121delCTCTCTCTCTCTCTATATAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35674400	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19009.hp2 NA18975.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0160 a0001c0001t0003g0132 a0001c0001t0003g0160	2	392	0.0051	-20	c.148 others(37): Show c.148-1142_148-1123delCTCTCTCTCTCTCTCTATAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35674402	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19090.hp2 NA19064.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0144 a0002c0002t0002g0344 a0001c0001t0003g0144 a0002c0002t0002g0344	2	392	0.0051	-20	c.148 others(37): Show c.148-1144_148-1125delCTCTCTCTCTCTCTCTCTAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar

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