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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASCC3_chr6_100503194_100886329	100556991	TCACATAG others(4): Show TCACATAGAACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02083.hp1 HG00438.hp1 HG02040.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0270	3	314	0.0096	-11	c.555 others(32): Show c.5551-16615_5551-16605delTGTTCTATGTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	36/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608241	TTATATAT others(4): Show TTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp2 HG01175.hp1 others(16): Show HG00140.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01993.hp1 HG02148.hp1 HG02273.hp2 HG02300.hp2 HG02615.hp2 HG02683.hp1 HG03225.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp1 NA19077.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0004c0008 a0006c0009 a0002c0003 a0004c0008 a0006c0009	a0002c0003t0002 a0002c0003t0018 a0004c0008t0003 others(1): Show a0002c0003t0002 a0002c0003t0018 a0004c0008t0003 a0006c0009t0002	a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 others(16): Show a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0068 a0002c0003t0018g0311 a0004c0008t0003g0055 a0006c0009t0002g0111	19	314	0.0605	-11	c.478 others(30): Show c.4786-1164_4786-1154delGTATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608618	TTTATATA others(4): Show TTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show HG02486.hp1 HG02559.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(3): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206	6	314	0.0191	-11	c.478 others(30): Show c.4786-1541_4786-1531delTATATATATAA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100724149	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0003 a0016c0017t0003	a0016c0017t0003g0133 a0016c0017t0003g0133	1	314	0.0032	-11	c.190 others(30): Show c.1902+1379_1902+1389delGTTTTTTTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100771866	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0074 a0011c0028t0002g0074	1	314	0.0032	-11	c.139 others(30): Show c.1396-4532_1396-4522delAAAAAAAAAAA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	8/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100795029	GGAGCTGA others(4): Show GGAGCTGATAAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	314	0.0032	-11	c.139 others(30): Show c.1395+3673_1395+3683delATTATCAGCTC		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	8/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100840488	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(68): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp2 HG02683.hp1 HG02818.hp1 HG03017.hp2 HG03225.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19077.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0002 a0004 a0009 others(3): Show a0002 a0004 a0009 a0010 a0019 a0022	a0002c0003 a0004c0008 a0004c0013 others(4): Show a0002c0003 a0004c0008 a0004c0013 a0009c0036 a0010c0035 a0019c0016 a0022c0037	a0002c0003t0002 a0002c0003t0018 a0004c0008t0002 others(6): Show a0002c0003t0002 a0002c0003t0018 a0004c0008t0002 a0004c0008t0003 a0004c0013t0003 a0009c0036t0002 a0010c0035t0002 a0019c0016t0002 a0022c0037t0002	a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 others(68): Show a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0018g0311 a0004c0008t0002g0018 a0004c0008t0002g0020 a0004c0008t0003g0055 a0004c0008t0003g0057 a0004c0008t0003g0063 a0004c0013t0003g0040 a0004c0013t0003g0065 a0009c0036t0002g0049 a0010c0035t0002g0044 a0019c0016t0002g0160 a0022c0037t0002g0056	71	314	0.2261	-11	c.801 others(28): Show c.801+7649_801+7659delAAAAAAAAAAA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	4/41						chr6	TogoVar
ASCL3_chr11_8932578_8948016	8934898	GCATCATC others(4): Show GCATCATCGCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-11	c.27 others(22): Show c.2707_*2717delTAGCGATGATG		ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding					2679		chr11	TogoVar
ASGR2_chr17_7096326_7119822	7113548	TACATACA others(4): Show TACATACACACA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	432	0.0023	-11	c.124 others(26): Show c.124+558_124+568delTGTGTGTATGT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8						chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118489	AAGGAAGG others(4): Show AAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(182): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0016 a0002c0007 a0003c0013 a0004c0015 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0003t0001 a0001c0004t0007 a0001c0005t0001 a0001c0016t0003 a0002c0007t0001 a0003c0013t0001 a0004c0015t0001 a0005c0014t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0063 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0008g0006 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0010g0021 a0001c0001t0010g0050 a0001c0001t0010g0317 a0001c0001t0010g0318 a0001c0001t0012g0053 a0001c0001t0014g0295 a0001c0002t0001g0216 a0001c0002t0003g0019 a0001c0002t0003g0046 a0001c0002t0003g0280 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0291 a0001c0002t0003g0296 a0001c0002t0003g0298 a0001c0002t0008g0292 a0001c0002t0011g0051 a0001c0002t0011g0052 a0001c0003t0001g0012 a0001c0003t0001g0185 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0209 a0001c0004t0007g0015 a0001c0004t0007g0205 a0001c0004t0007g0206 a0001c0004t0007g0207 a0001c0005t0001g0013 a0001c0005t0001g0197 a0001c0016t0003g0301 a0002c0007t0001g0127 a0003c0013t0001g0198 a0004c0015t0001g0215 a0005c0014t0003g0293	185	432	0.4282	-11	c.-39 others(22): Show c.-3956_-3946delCCTTCCTTCCT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3668		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118515	GGAAGGAA others(4): Show GGAAGGAAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	432	0.0023	-11	c.-39 others(22): Show c.-3982_-3972delTTCCTTCCTTC		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3694		chr17	TogoVar
ASH2L_chr8_38100529_38145080	38119321	AGCAGGAT others(4): Show AGCAGGATGGAG	A A	frameshift_variant frameshift_variant	HIGH	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0212 a0005c0009t0001g0212	1	330	0.0030	-11	c.907 others(18): Show c.907_917delCAGGATGGAGG	p.Gln others(5): Show p.Gln303fs	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	9/16	929/2918	907/1887	303/628		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38121356	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0212 a0005c0009t0001g0212	1	330	0.0030	-11	c.116 others(28): Show c.1165+208_1165+218delATATATATATA		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15						chr8	TogoVar
ASIC1_chr12_50052596_50088611	50084375	AAAAATCT others(4): Show AAAAATCTGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02486.hp2 others(10): Show HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02922.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0003t0004 a0001c0007t0001 a0001c0003t0001 a0001c0003t0004 a0001c0007t0001	a0001c0003t0001g0028 a0001c0003t0001g0061 a0001c0003t0001g0068 others(9): Show a0001c0003t0001g0028 a0001c0003t0001g0061 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0070 a0001c0007t0001g0125 a0001c0007t0001g0126	13	324	0.0401	-11	c.27 others(22): Show c.2727_*2737delAAAATCTGAGG		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding					765		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33032440	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG06807.hp2 others(1): Show HG02055.hp2 HG03209.hp1 HG06807.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0019 a0001c0002t0002 others(1): Show a0001c0001t0009 a0001c0001t0019 a0001c0002t0002 a0001c0002t0005	a0001c0001t0009g0075 a0001c0001t0019g0232 a0001c0002t0002g0116 others(1): Show a0001c0001t0009g0075 a0001c0001t0019g0232 a0001c0002t0002g0116 a0001c0002t0005g0102	4	240	0.0167	-11	c.988 others(28): Show c.988-4059_988-4049delAAAAAAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33160208	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(62): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01168.hp1 HG01243.hp1 HG01258.hp2 HG01358.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0003c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0032 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0027 a0001c0007t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0030 a0002c0003t0031 a0003c0008t0004	a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0035 others(62): Show a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0055 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0007g0224 a0001c0001t0007g0228 a0001c0001t0007g0236 a0001c0001t0007g0239 a0001c0001t0009g0012 a0001c0001t0009g0073 a0001c0001t0019g0225 a0001c0001t0020g0021 a0001c0001t0021g0028 a0001c0001t0023g0084 a0001c0001t0024g0085 a0001c0001t0033g0238 a0001c0001t0034g0229 a0001c0001t0035g0226 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0125 a0001c0002t0002g0131 a0001c0002t0003g0005 a0001c0002t0012g0086 a0001c0002t0032g0223 a0001c0004t0001g0160 a0001c0004t0001g0162 a0001c0004t0002g0142 a0001c0004t0002g0152 a0001c0004t0002g0156 a0001c0004t0002g0161 a0001c0004t0002g0173 a0001c0004t0010g0151 a0001c0004t0027g0147 a0001c0007t0003g0048 a0002c0003t0001g0181 a0002c0003t0001g0195 a0002c0003t0001g0199 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0219 a0002c0003t0002g0178 a0002c0003t0002g0191 a0002c0003t0002g0204 a0002c0003t0002g0213 a0002c0003t0030g0220 a0002c0003t0031g0222 a0003c0008t0004g0037	65	240	0.2708	-11	c.709 others(30): Show c.709-48152_709-48142delCTTTTTTTTTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC5_chr4_155824729_155871277	155827730	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA18952.hp2 HG02723.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0157 a0001c0001t0005g0033 a0001c0001t0001g0157 a0001c0001t0005g0033	2	334	0.0060	-11	c.21 others(22): Show c.2115_*2125delTTTTTTTTTTT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding					1998		chr4	TogoVar
ASIP_chr20_34236423_34274344	34269946	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG03130.hp1 HG03516.hp2 others(2): Show HG02074.hp2 HG03130.hp1 HG03516.hp2 NA18944.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0161 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0161 a0001c0001t0002g0035 a0001c0001t0002g0049	5	306	0.0163	-11	c.78 others(20): Show c.780_*790delAAAAAAAAAAA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding					603		chr20	TogoVar
ASL_chr7_66070819_66098576	66074717	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01361.hp1 HG01433.hp2 others(8): Show HG00438.hp1 HG01361.hp1 HG01433.hp2 HG01943.hp1 HG02004.hp1 HG02071.hp2 HG02622.hp2 NA18954.hp1 NA18973.hp1 NA18986.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0001t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0005t0001g0004 a0001c0005t0001g0036 a0001c0007t0001g0010	11	316	0.0348	-11	c.-11 others(22): Show c.-1182_-1172delTTCTTTCTTTC		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding					1101		chr7	TogoVar
ASMTL_chrX_1398139_1457909	1407014	GGGTGAAT others(4): Show GGGTGAATAGAT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	185	0.0054	-11	c.164 others(30): Show c.1646-3536_1646-3526delATCTATTCACC		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMT_chrX_1610059_1648081	1644220	TTATTATT others(4): Show TTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02165.hp2 HG02523.hp1 others(6): Show HG02155.hp2 HG02165.hp2 HG02523.hp1 HG03669.hp1 HG03704.hp1 HG04184.hp2 NA18947.hp2 NA18981.hp1 NA18999.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0013c0017t0001	a0001c0001t0001g0110 a0001c0001t0002g0152 a0001c0003t0001g0050 others(6): Show a0001c0001t0001g0110 a0001c0001t0002g0152 a0001c0003t0001g0050 a0002c0002t0001g0085 a0002c0002t0001g0095 a0002c0002t0002g0188 a0002c0002t0002g0207 a0002c0002t0002g0213 a0013c0017t0001g0111	9	223	0.0404	-11	c.12 others(22): Show c.1207_*1217delTATTATTATTA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					1140		chrX	TogoVar
ASPHD1_chr16_29895488_29911056	29896272	TTTATTTT others(4): Show TTTATTTTTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	394	0.0025	-11	c.-46 others(22): Show c.-4699_-4689delTTATTTTTTTA		ASPHD1	ENSG00000174939.11	transcript	ENST00000308748.10	protein_coding					4215		chr16	TogoVar
ASPHD1_chr16_29895488_29911056	29909844	CAGATCAC others(4): Show CAGATCACTTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	394	0.0025	-11	c.39 others(22): Show c.3948_*3958delAGATCACTTGA		ASPHD1	ENSG00000174939.11	transcript	ENST00000308748.10	protein_coding					3789		chr16	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01517.hp1 HG01934.hp2 others(15): Show HG01167.hp2 HG01517.hp1 HG01934.hp2 HG02129.hp2 HG02486.hp1 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03239.hp1 HG03688.hp2 HG03831.hp1 HG04228.hp1 NA18950.hp2 NA18970.hp1 NA19068.hp1 NA19088.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0012 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0027 a0001c0002t0002 a0001c0011t0001 a0001c0012t0017 a0005c0007t0002	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0005g0020 others(15): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0005g0020 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0179 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0012g0007 a0001c0001t0015g0009 a0001c0001t0027g0044 a0001c0002t0002g0022 a0001c0002t0002g0046 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0011t0001g0042 a0001c0012t0017g0043 a0005c0007t0002g0045	18	258	0.0698	-11	c.103 others(30): Show c.103+10064_103+10074delTTTTTTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASPM_chr1_197079127_197151669	197108971	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	296	0.0034	-11	c.406 others(30): Show c.4066-3797_4066-3787delTTTTTTTTTTT		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	17/27						chr1	TogoVar
ASPSCR1_chr17_81972629_82022406	81984876	ACACACAC others(4): Show ACACACACCCCC	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	366	0.0027	-11	c.274 others(26): Show c.274-623_274-613delCCCCCACACAC		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01099.hp1 others(21): Show HG00423.hp2 HG00597.hp2 HG01099.hp1 HG01257.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG03239.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18971.hp1 NA18982.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 a0001c0001t0001 a0001c0001t0013 a0001c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0044 others(21): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0013g0059 a0001c0001t0013g0062 a0001c0001t0013g0063 a0001c0003t0001g0089 a0001c0003t0001g0114	24	370	0.0649	-11	c.491 others(28): Show c.491+5782_491+5792delTTTTTTTTTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62395759	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02132.hp2 NA18979.hp1 HG02015.hp1 HG02132.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0016 a0001c0002t0003 a0001c0001t0003 a0001c0001t0016 a0001c0002t0003	a0001c0001t0003g0306 a0001c0001t0016g0310 a0001c0002t0003g0296 a0001c0001t0003g0306 a0001c0001t0016g0310 a0001c0002t0003g0296	3	370	0.0081	-11	c.34 others(22): Show c.3476_*3486delTTTTTTTTTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding					2348		chr11	TogoVar
ASTL_chr2_96117818_96143502	96124708	GTTGGGGC others(4): Show GTTGGGGCTTCC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0082 a0008c0016t0001g0082	1	396	0.0025	-11	c.875 others(26): Show c.875-448_875-438delGGAAGCCCCAA		ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	8/8						chr2	TogoVar
ASTN1_chr1_176856067_177169712	177075635	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0031 a0003c0010t0006g0031	1	112	0.0089	-11	c.284 others(30): Show c.284-14381_284-14371delAGAAAAGAAAA		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116560554	TTCCCTCC others(4): Show TTCCCTCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0005 a0002c0004t0002g0005	1	102	0.0098	-11	c.335 others(32): Show c.3355+57759_3355+57769delGGCTGGAGGGA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565214	AAACACAC others(4): Show AAACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0026 a0001c0003t0006g0026	1	102	0.0098	-11	c.335 others(32): Show c.3355+53099_3355+53109delGTGTGTGTGTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116600323	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01891.hp2 HG02896.hp2 others(4): Show HG01515.hp1 HG01891.hp2 HG02896.hp2 HG02965.hp1 HG03540.hp2 NA19011.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0010 a0001c0006t0002	a0001c0001t0002g0018 a0001c0001t0005g0096 a0001c0002t0001g0058 others(4): Show a0001c0001t0002g0018 a0001c0001t0005g0096 a0001c0002t0001g0058 a0001c0002t0002g0046 a0001c0002t0004g0047 a0001c0003t0010g0052 a0001c0006t0002g0012	7	102	0.0686	-11	c.335 others(32): Show c.3355+17990_3355+18000delTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116634589	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp1 HG02109.hp2 others(13): Show HG00639.hp1 HG01515.hp1 HG02109.hp2 HG02572.hp2 HG02698.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03239.hp1 NA18959.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0005 a0001c0003t0010 a0001c0006t0002 a0001c0007t0001 a0001c0009t0008 a0001c0011t0004 a0001c0023t0002	a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0008g0008 others(13): Show a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0001g0058 a0001c0002t0002g0059 a0001c0002t0003g0021 a0001c0002t0004g0047 a0001c0002t0008g0024 a0001c0003t0005g0082 a0001c0003t0010g0052 a0001c0006t0002g0012 a0001c0007t0001g0010 a0001c0009t0008g0088 a0001c0011t0004g0097 a0001c0023t0002g0069	16	102	0.1569	-11	c.307 others(32): Show c.3073-14157_3073-14147delTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116662488	ACTTCAAC others(4): Show ACTTCAACCTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0080 a0001c0025t0001g0080	1	102	0.0098	-11	c.280 others(32): Show c.2807-10706_2807-10696delCCAGGTTGAAG		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116680849	AATTAGGT others(4): Show AATTAGGTATTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0003	a0007c0018t0003g0031 a0007c0018t0003g0031	1	102	0.0098	-11	c.280 others(32): Show c.2807-29067_2807-29057delCAATACCTAAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116775775	AAGGAGGG others(4): Show AAGGAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	102	0.0098	-11	c.239 others(32): Show c.2396+29846_2396+29856delCCTTCCCTCCT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116791028	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02559.hp1 HG02004.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0007 a0001c0010t0004 a0001c0001t0007 a0001c0010t0004	a0001c0001t0007g0087 a0001c0010t0004g0009 a0001c0001t0007g0087 a0001c0010t0004g0009	2	102	0.0196	-11	c.239 others(32): Show c.2396+14593_2396+14603delCTTTCTTTCTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116865423	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG03139.hp1 others(4): Show HG01109.hp2 HG01884.hp1 HG03139.hp1 NA18959.hp1 NA19011.hp2 NA19066.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010	a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0003t0006 a0001c0005t0005 a0001c0009t0004 a0001c0010t0001	a0001c0001t0003g0013 a0001c0001t0011g0002 a0001c0002t0002g0059 others(4): Show a0001c0001t0003g0013 a0001c0001t0011g0002 a0001c0002t0002g0059 a0001c0003t0006g0026 a0001c0005t0005g0048 a0001c0009t0004g0032 a0001c0010t0001g0102	7	102	0.0686	-11	c.189 others(30): Show c.1890-1701_1890-1691delTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016778	ATATATAT others(4): Show ATATATATAGGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01099.hp1 others(23): Show HG00099.hp2 HG00639.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01934.hp2 HG02896.hp1 HG03239.hp2 HG04199.hp1 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0017 a0001c0022 a0003c0019 a0005c0015 a0007c0018	a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0010 a0001c0009t0008 a0001c0010t0001 a0001c0017t0002 a0001c0022t0001 a0003c0019t0002 a0005c0015t0003 a0007c0018t0003	a0001c0001t0008g0008 a0001c0002t0001g0033 a0001c0002t0001g0042 others(23): Show a0001c0001t0008g0008 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0092 a0001c0003t0010g0052 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0017t0002g0089 a0001c0022t0001g0020 a0003c0019t0002g0025 a0005c0015t0003g0019 a0007c0018t0003g0031	26	102	0.2549	-11	c.142 others(30): Show c.1424-8530_1424-8520delACCTATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117026681	AACCTCAG others(4): Show AACCTCAGATTC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02559.hp1 others(10): Show HG00735.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(4): Show a0001c0001 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0007t0001 a0001c0008t0005 a0001c0011t0004 a0001c0012t0001 a0001c0014t0017 a0002c0004t0006	a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0099 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0077 a0001c0001t0006g0079 a0001c0001t0007g0087 a0001c0007t0001g0011 a0001c0008t0005g0081 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0014t0017g0050 a0002c0004t0006g0003	13	102	0.1275	-11	c.142 others(32): Show c.1423+13127_1423+13137delGAATCTGAGGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060387	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0003 a0005c0015t0003	a0005c0015t0003g0019 a0005c0015t0003g0019	1	102	0.0098	-11	c.127 others(32): Show c.1277-20433_1277-20423delCTTTCTTTCTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117340331	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	102	0.0098	-11	c.443 others(30): Show c.443-48829_443-48819delTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117349312	TAAATGAG others(4): Show TAAATGAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01169.hp2 others(26): Show HG00735.hp1 HG01099.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp2 HG02451.hp1 HG02698.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG04199.hp2 NA18906.hp1 NA18959.hp1 NA18959.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA20129.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0017 a0004c0024 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0006 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0004c0024t0013 a0006c0020t0001	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0095 others(26): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0003g0013 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0004g0043 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0006g0017 a0001c0005t0005g0007 a0001c0006t0002g0012 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089 a0004c0024t0013g0101 a0006c0020t0001g0039	29	102	0.2843	-11	c.443 others(30): Show c.443-57810_443-57800delTTTTCTCATTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117406888	ACACACAC others(4): Show ACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0011t0004 a0001c0001t0005 a0001c0011t0004	a0001c0001t0005g0096 a0001c0011t0004g0097 a0001c0001t0005g0096 a0001c0011t0004g0097	2	102	0.0196	-11	c.442 others(28): Show c.442+7598_442+7608delGTGTGTGTGTG		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32379161	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0117 a0007c0010t0001g0117	1	282	0.0036	-11	c.252 others(30): Show c.252+10069_252+10079delTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32418809	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp1 HG01884.hp1 others(14): Show HG00733.hp1 HG01167.hp1 HG01884.hp1 HG01952.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0026 a0005c0009 a0005c0021	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0005t0001 a0001c0005t0015 a0001c0026t0001 a0005c0009t0003 a0005c0021t0003	a0001c0001t0001g0086 a0001c0002t0002g0234 a0001c0002t0005g0227 others(14): Show a0001c0001t0001g0086 a0001c0002t0002g0234 a0001c0002t0005g0227 a0001c0005t0001g0020 a0001c0005t0001g0182 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0188 a0001c0005t0001g0189 a0001c0005t0015g0184 a0001c0026t0001g0183 a0005c0009t0003g0177 a0005c0009t0003g0178 a0005c0009t0003g0179 a0005c0009t0003g0180 a0005c0009t0003g0181 a0005c0021t0003g0193	17	282	0.0603	-11	c.253 others(28): Show c.253-9288_253-9278delTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25782881	ACTTTGGG others(4): Show ACTTTGGGAAGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0031 a0001c0001t0013g0031	1	222	0.0045	-11	c.404 others(30): Show c.404-11352_404-11342delGCTTCCCAAAG		ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12						chr2	TogoVar
ATAD1_chr10_87746512_87823226	87819281	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	360	0.0028	-11	c.-11 others(22): Show c.-1139_-1129delGTTTTTTTTTT		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding					1056		chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745406	AAGGAAGG others(4): Show AAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	246	0.0041	-11	c.66 others(22): Show c.6629_*6639delCCTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3257		chr2	TogoVar

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