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	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
ASH1L_chr1_155330268_155567803	155332460	GTATATAT others(5): Show GTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1 HG02886.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0083 a0002c0002t0001g0088 a0001c0001t0001g0081 a0001c0001t0001g0083 a0002c0002t0001g0088	3	182	0.0165	-12	c.51 others(23): Show c.5188_*5199delTATATATATATA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding					2807		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155357078	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20129.hp1 NA20752.hp1 HG01175.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0041 a0001c0001t0001g0120 a0001c0010t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0120 a0001c0010t0001g0035	3	182	0.0165	-12	c.705 others(29): Show c.7055+226_7055+237delGTGTGTGTGTGT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	15/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411578	AATAAATA others(5): Show AATAAATAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0173 a0011c0014t0002g0173	1	182	0.0055	-12	c.600 others(31): Show c.6008+4154_6008+4165delATATTTATTTAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	182	0.0055	-12	c.600 others(31): Show c.6008+4146_6008+4157delATATATATATAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155458717	AAACCAAC others(5): Show AAACCAACCAACC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	182	0.0055	-12	c.508 others(31): Show c.5086+1068_5086+1079delGGTTGGTTGGTT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27						chr1	TogoVar
ASH2L_chr8_38100529_38145080	38107868	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18944.hp2 NA18960.hp2 others(2): Show HG02132.hp2 NA18944.hp2 NA18960.hp2 NA18965.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029	5	330	0.0152	-12	c.401 others(27): Show c.401+728_401+739delGTGTGTGTGTGT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38107894	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0030 a0001c0003t0001g0256 a0001c0003t0001g0257	3	330	0.0091	-12	c.401 others(27): Show c.401+730_401+741delGTGTGTGTGTAT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38121333	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG02451.hp2 others(3): Show HG01069.hp2 HG01243.hp2 HG02451.hp2 HG02976.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0114 a0001c0001t0001g0178 a0001c0003t0001g0127 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0178 a0001c0003t0001g0127 a0001c0003t0001g0225 a0001c0004t0001g0062 a0001c0004t0001g0063	6	330	0.0182	-12	c.116 others(29): Show c.1165+218_1165+229delATATATATATAT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASIC1_chr12_50052596_50088611	50074860	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	-12	c.559 others(29): Show c.559-2317_559-2306delGTGTGTGTGTGT		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33044261	CCCATCCA others(5): Show CCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03225.hp2 HG01069.hp2 HG01071.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0002t0002g0099 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0002t0002g0099	3	240	0.0125	-12	c.988 others(31): Show c.988-15881_988-15870delATGGATGGATGG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33124950	AGTTCACA others(5): Show AGTTCACAATAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(112): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0003c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(34): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0028 a0001c0002t0029 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0016 a0001c0007t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0003t0016 a0002c0003t0018 a0002c0003t0030 a0003c0008t0004	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0032 others(111): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0070 a0001c0001t0006g0017 a0001c0001t0006g0025 a0001c0001t0006g0050 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0007g0227 a0001c0001t0007g0230 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0007g0237 a0001c0001t0009g0012 a0001c0001t0009g0061 a0001c0001t0009g0073 a0001c0001t0009g0075 a0001c0001t0013g0016 a0001c0001t0013g0051 a0001c0001t0014g0046 a0001c0001t0014g0047 a0001c0001t0019g0225 a0001c0001t0019g0232 a0001c0001t0020g0021 a0001c0001t0021g0028 a0001c0001t0022g0072 a0001c0001t0035g0226 a0001c0002t0001g0097 a0001c0002t0001g0112 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0003g0005 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0005g0108 a0001c0002t0008g0106 a0001c0002t0010g0134 a0001c0002t0015g0087 a0001c0002t0015g0090 a0001c0002t0017g0109 a0001c0002t0028g0105 a0001c0002t0029g0104 a0001c0004t0001g0001 a0001c0004t0001g0141 a0001c0004t0001g0149 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0160 a0001c0004t0001g0167 a0001c0004t0001g0174 a0001c0004t0002g0150 a0001c0004t0002g0152 a0001c0004t0002g0173 a0001c0004t0004g0008 a0001c0004t0008g0143 a0001c0004t0008g0154 a0001c0004t0016g0148 a0001c0007t0003g0048 a0002c0003t0001g0187 a0002c0003t0001g0192 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0202 a0002c0003t0001g0209 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0002g0179 a0002c0003t0002g0214 a0002c0003t0005g0182 a0002c0003t0005g0184 a0002c0003t0005g0205 a0002c0003t0005g0210 a0002c0003t0005g0221 a0002c0003t0008g0183 a0002c0003t0010g0207 a0002c0003t0016g0177 a0002c0003t0018g0185 a0002c0003t0030g0220 a0003c0008t0004g0037	115	240	0.4792	-12	c.709 others(31): Show c.709-12895_709-12884delCCTATTGTGAAC		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33161857	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03834.hp2 HG03942.hp1 HG03471.hp1 HG03834.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0021 a0002c0003t0002 a0001c0001t0003 a0001c0001t0021 a0002c0003t0002	a0001c0001t0003g0031 a0001c0001t0021g0028 a0002c0003t0002g0178 a0001c0001t0003g0031 a0001c0001t0021g0028 a0002c0003t0002g0178	3	240	0.0125	-12	c.709 others(31): Show c.709-49802_709-49791delAAAAAAAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33233514	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00741.hp2 others(26): Show HG00280.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01175.hp2 HG01952.hp2 HG02132.hp2 HG02258.hp2 HG02602.hp1 HG02738.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18945.hp1 NA18964.hp2 NA19004.hp1 NA19007.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0003 a0002c0003t0001 a0002c0003t0005 a0002c0003t0010 a0002c0003t0017	a0001c0001t0003g0053 a0001c0001t0003g0066 a0001c0001t0003g0077 others(26): Show a0001c0001t0003g0053 a0001c0001t0003g0066 a0001c0001t0003g0077 a0001c0001t0004g0055 a0001c0001t0004g0067 a0001c0001t0004g0080 a0001c0001t0006g0025 a0001c0001t0007g0227 a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0009g0061 a0001c0001t0033g0238 a0001c0002t0001g0119 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0002g0156 a0001c0004t0002g0175 a0001c0007t0003g0048 a0002c0003t0001g0176 a0002c0003t0001g0196 a0002c0003t0001g0199 a0002c0003t0005g0205 a0002c0003t0010g0207 a0002c0003t0017g0206	29	240	0.1208	-12	c.708 others(31): Show c.708+57882_708+57893delTGTGTGTGTGTG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33233547	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	240	0.0042	-12	c.708 others(31): Show c.708+57849_708+57860delATGTGTGTGTGT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33268341	TCATCCAT others(5): Show TCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01358.hp2 others(31): Show HG00438.hp1 HG00544.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02572.hp2 HG02717.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19057.hp1 NA19081.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023 a0001c0002t0002 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005	a0001c0001t0003g0035 a0001c0001t0003g0044 a0001c0001t0003g0052 others(31): Show a0001c0001t0003g0035 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0059 a0001c0001t0007g0228 a0001c0001t0009g0061 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0020g0021 a0001c0001t0023g0084 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0005g0101 a0001c0004t0001g0162 a0001c0004t0002g0161 a0001c0004t0002g0163 a0002c0003t0001g0181 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0001g0195 a0002c0003t0001g0209 a0002c0003t0001g0212 a0002c0003t0001g0218 a0002c0003t0002g0178 a0002c0003t0002g0180 a0002c0003t0002g0189 a0002c0003t0002g0213 a0002c0003t0005g0210 a0002c0003t0005g0221	34	240	0.1417	-12	c.708 others(31): Show c.708+23055_708+23066delGATGGATGGATG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33297823	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18980.hp1 NA18999.hp1 NA18968.hp2 NA18980.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0001g0188 a0002c0003t0002g0189 a0002c0003t0002g0191	3	240	0.0125	-12	c.-57 others(23): Show c.-5720_-5709delATTTATTTATTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding					4529		chr17	TogoVar
ASIC4_chr2_219509482_219543772	219514470	AAGGAGAC others(5): Show AAGGAGACGATCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0153 a0002c0006t0003g0153	1	372	0.0027	-12	c.-24 others(21): Show c.-248_-237delCGATCGAGGAGA		ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	1/10				237	INFO_REALIGN_3_PRIME	chr2	TogoVar
ASIC5_chr4_155824729_155871277	155825297	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA18954.hp2 NA18974.hp1 others(3): Show HG00621.hp2 NA18954.hp2 NA18974.hp1 NA18984.hp1 NA18985.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0003t0003g0011	6	334	0.0180	-12	c.45 others(23): Show c.4547_*4558delGTGTGTGTGTGT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding					4431		chr4	TogoVar
ASIC5_chr4_155824729_155871277	155827730	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 NA19074.hp2 others(1): Show HG00423.hp1 HG00544.hp2 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0083 a0001c0001t0005g0033 a0001c0001t0002g0002 a0001c0001t0002g0083 a0001c0001t0005g0033	4	334	0.0120	-12	c.21 others(23): Show c.2114_*2125delTTTTTTTTTTTT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding					1998		chr4	TogoVar
ASIC5_chr4_155824729_155871277	155829627	TATATATA others(5): Show TATATATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01071.hp1 others(29): Show HG00423.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02257.hp2 HG03669.hp1 HG03710.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18955.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19010.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0035 others(8): Show a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087	32	334	0.0958	-12	c.21 others(21): Show c.217_*228delGTGTATATATAT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding					101		chr4	TogoVar
ASIC5_chr4_155824729_155871277	155836986	TACTCTGA others(5): Show TACTCTGAAACAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01167.hp2 others(39): Show HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01346.hp1 HG01516.hp2 HG01891.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA19007.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0002c0004t0001 a0003c0006t0003	a0001c0001t0001g0085 a0001c0002t0001g0057 a0001c0002t0003g0009 others(23): Show a0001c0001t0001g0085 a0001c0002t0001g0057 a0001c0002t0003g0009 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0055 a0001c0002t0004g0016 a0001c0002t0004g0027 a0001c0002t0004g0054 a0001c0003t0003g0011 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0075 a0002c0004t0001g0022 a0002c0004t0001g0178 a0002c0004t0001g0179 a0002c0004t0001g0180 a0003c0006t0003g0065	42	334	0.1258	-12	c.106 others(29): Show c.1067-141_1067-130delTTGTTTCAGAGT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding	7/9						chr4	TogoVar
ASIP_chr20_34236423_34274344	34269946	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01106.hp2 others(21): Show HG00609.hp2 HG00673.hp2 HG01106.hp2 HG01261.hp1 HG02040.hp2 HG02258.hp2 HG02486.hp1 HG03225.hp2 HG04204.hp1 HG04204.hp2 NA18950.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18983.hp2 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0231 a0002c0002t0001g0010	24	306	0.0784	-12	c.78 others(21): Show c.780_*791delAAAAAAAAAAAA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding					603		chr20	TogoVar
ASL_chr7_66070819_66098576	66074704	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(36): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG01169.hp1 HG01516.hp1 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02818.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03654.hp1 HG03688.hp1 HG04199.hp2 NA18945.hp2 NA18964.hp2 NA18970.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA19064.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0165	39	316	0.1234	-12	c.-11 others(23): Show c.-1195_-1184delTTTCTTTCTTTC		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding					1114		chr7	TogoVar
ASL_chr7_66070819_66098576	66074720	CTTTCTTT others(5): Show CTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	316	0.0032	-12	c.-11 others(23): Show c.-1179_-1168delTTTCTTTCTTTT		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding					1098		chr7	TogoVar
ASL_chr7_66070819_66098576	66074724	CTTTCTTT others(5): Show CTTTCTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG02523.hp1 others(12): Show HG00438.hp2 HG01934.hp1 HG02523.hp1 HG03195.hp2 NA18947.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp1 NA18975.hp1 NA18994.hp1 NA19002.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0003c0014 a0001c0002 a0001c0006 a0003c0014	a0001c0002t0001 a0001c0006t0001 a0003c0014t0001 a0001c0002t0001 a0001c0006t0001 a0003c0014t0001	a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 others(7): Show a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0107 a0003c0014t0001g0013	15	316	0.0475	-12	c.-11 others(23): Show c.-1175_-1164delTTTCTTTTTTTT		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding					1094		chr7	TogoVar
ASMTL_chrX_1398139_1457909	1423743	TCCATCCA others(5): Show TCCATCCATCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0017 a0019 a0020 a0021 a0022	a0001c0001 a0001c0008 a0001c0013 others(25): Show a0001c0001 a0001c0008 a0001c0013 a0001c0035 a0002c0004 a0002c0012 a0002c0014 a0002c0015 a0002c0034 a0003c0002 a0003c0005 a0003c0029 a0003c0044 a0005c0027 a0005c0037 a0006c0016 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0013c0036 a0014c0025 a0015c0026 a0017c0022 a0019c0021 a0020c0045 a0021c0019 a0022c0046	a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 others(27): Show a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0035t0001 a0002c0004t0001 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0005t0001 a0003c0029t0001 a0003c0044t0001 a0005c0027t0001 a0005c0037t0001 a0006c0016t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0013c0036t0001 a0014c0025t0001 a0015c0026t0001 a0017c0022t0001 a0019c0021t0001 a0020c0045t0001 a0021c0019t0001 a0022c0046t0004	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0032 a0001c0008t0001g0045 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0013t0001g0068 a0001c0013t0001g0164 a0001c0035t0001g0122 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0012t0001g0074 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0014t0001g0015 a0002c0014t0001g0177 a0002c0015t0001g0001 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0071 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0150 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0002g0183 a0003c0002t0003g0100 a0003c0005t0001g0010 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0003c0044t0001g0011 a0005c0027t0001g0175 a0005c0037t0001g0162 a0006c0016t0001g0166 a0006c0016t0001g0169 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0013c0036t0001g0147 a0014c0025t0001g0152 a0015c0026t0001g0114 a0017c0022t0001g0017 a0019c0021t0001g0101 a0020c0045t0001g0046 a0021c0019t0001g0067 a0022c0046t0004g0184	127	185	0.6865	-12	c.106 others(31): Show c.1060+1770_1060+1781delGAGGATGGATGG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	8/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1424067	CATCCACT others(5): Show CATCCACTGATGG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0113 a0005c0038t0001g0113	1	185	0.0054	-12	c.106 others(31): Show c.1060+1446_1060+1457delCCATCAGTGGAT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	8/12						chrX	TogoVar
ASMT_chrX_1610059_1648081	1628917	CGTTTCTC others(5): Show CGTTTCTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	223	0.0045	-12	c.444 others(27): Show c.444-903_444-892delGTTTCTCTCTTT		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	4/8						chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(5): Show GTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG01109.hp1 others(10): Show HG00544.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01516.hp2 HG02015.hp1 HG02145.hp1 HG03688.hp2 NA18522.hp1 NA18941.hp2 NA18969.hp2 NA19062.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0007 a0001c0001t0002g0040 others(3): Show a0001c0001t0001g0080 a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114	13	340	0.0382	-12	c.-93 others(27): Show c.-93+147_-93+158delGTATATATATAT		ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPA_chr17_3470997_3508405	3485882	AGAGAGCC others(5): Show AGAGAGCCAGATG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18948.hp1 NA18960.hp2 others(3): Show NA18945.hp1 NA18948.hp1 NA18960.hp2 NA18980.hp2 NA18993.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0003g0130 a0001c0001t0003g0131	6	450	0.0133	-12	c.526 others(29): Show c.526+2292_526+2303delAGAGCCAGATGG		ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPA_chr17_3470997_3508405	3495546	GTTTGTTT others(5): Show GTTTGTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18972.hp2 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19078.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0002t0019 a0001c0002t0033 a0001c0002t0045 a0001c0003t0002 a0002c0004t0004 a0002c0004t0007 a0002c0004t0008	a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0079 others(214): Show a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0335 a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0067 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0158 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0349 a0001c0001t0002g0352 a0001c0001t0002g0359 a0001c0001t0002g0364 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0087 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0160 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0223 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0260 a0001c0001t0003g0301 a0001c0001t0003g0309 a0001c0001t0004g0006 a0001c0001t0004g0030 a0001c0001t0004g0064 a0001c0001t0004g0105 a0001c0001t0004g0111 a0001c0001t0004g0150 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0263 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0280 a0001c0001t0004g0283 a0001c0001t0004g0285 a0001c0001t0004g0311 a0001c0001t0004g0315 a0001c0001t0004g0318 a0001c0001t0004g0322 a0001c0001t0004g0366 a0001c0001t0004g0368 a0001c0001t0005g0068 a0001c0001t0005g0369 a0001c0001t0006g0139 a0001c0001t0006g0197 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0006g0319 a0001c0001t0006g0341 a0001c0001t0006g0365 a0001c0001t0006g0372 a0001c0001t0006g0375 a0001c0001t0007g0186 a0001c0001t0008g0028 a0001c0001t0008g0148 a0001c0001t0008g0171 a0001c0001t0008g0173 a0001c0001t0008g0284 a0001c0001t0008g0327 a0001c0001t0008g0374 a0001c0001t0009g0180 a0001c0001t0009g0210 a0001c0001t0009g0294 a0001c0001t0009g0330 a0001c0001t0011g0027 a0001c0001t0011g0140 a0001c0001t0011g0277 a0001c0001t0012g0149 a0001c0001t0012g0151 a0001c0001t0012g0175 a0001c0001t0012g0326 a0001c0001t0013g0169 a0001c0001t0014g0141 a0001c0001t0014g0270 a0001c0001t0014g0329 a0001c0001t0015g0203 a0001c0001t0016g0339 a0001c0001t0016g0353 a0001c0001t0019g0373 a0001c0001t0021g0031 a0001c0001t0023g0343 a0001c0001t0026g0360 a0001c0001t0028g0367 a0001c0001t0031g0103 a0001c0001t0034g0278 a0001c0001t0036g0336 a0001c0001t0037g0340 a0001c0001t0038g0108 a0001c0001t0042g0101 a0001c0001t0044g0052 a0001c0001t0046g0234 a0001c0001t0047g0088 a0001c0001t0050g0027 a0001c0001t0051g0196 a0001c0001t0052g0146 a0001c0002t0002g0058 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0245 a0001c0002t0002g0313 a0001c0002t0002g0325 a0001c0002t0003g0268 a0001c0002t0004g0040 a0001c0002t0004g0346 a0001c0002t0005g0014 a0001c0002t0005g0019 a0001c0002t0005g0042 a0001c0002t0005g0046 a0001c0002t0005g0063 a0001c0002t0005g0074 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0085 a0001c0002t0005g0096 a0001c0002t0005g0154 a0001c0002t0005g0163 a0001c0002t0005g0170 a0001c0002t0005g0183 a0001c0002t0005g0198 a0001c0002t0005g0216 a0001c0002t0005g0237 a0001c0002t0005g0262 a0001c0002t0005g0286 a0001c0002t0005g0331 a0001c0002t0005g0342 a0001c0002t0006g0013 a0001c0002t0006g0015 a0001c0002t0006g0112 a0001c0002t0006g0191 a0001c0002t0006g0199 a0001c0002t0006g0201 a0001c0002t0006g0282 a0001c0002t0006g0291 a0001c0002t0007g0014 a0001c0002t0007g0016 a0001c0002t0007g0046 a0001c0002t0007g0138 a0001c0002t0007g0200 a0001c0002t0007g0215 a0001c0002t0007g0281 a0001c0002t0007g0292 a0001c0002t0007g0307 a0001c0002t0007g0324 a0001c0002t0007g0345 a0001c0002t0008g0137 a0001c0002t0008g0350 a0001c0002t0013g0145 a0001c0002t0017g0045 a0001c0002t0019g0370 a0001c0002t0033g0238 a0001c0002t0045g0371 a0001c0003t0002g0003 a0001c0003t0002g0022 a0001c0003t0002g0127 a0001c0003t0002g0231 a0001c0003t0002g0257 a0001c0003t0002g0300 a0002c0004t0004g0317 a0002c0004t0007g0328 a0002c0004t0008g0206	245	450	0.5444	-12	c.744 others(29): Show c.744+1115_744+1126delGTTTTTGTTTTT		ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPDH_chr19_50506603_50518913	50508698	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0020 a0007c0007t0001g0020	1	372	0.0027	-12	c.30 others(23): Show c.3020_*3031delACACACACACAC		ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding					2904		chr19	TogoVar
ASPG_chr14_104080700_104120582	104083294	CTCCAGTG others(5): Show CTCCAGTGAGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0212 a0002c0016t0006g0212	1	368	0.0027	-12	c.-24 others(23): Show c.-2476_-2465delTCCAGTGAGGAT		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding					2405		chr14	TogoVar
ASPG_chr14_104080700_104120582	104111223	ATGTATGC others(5): Show ATGTATGCTGCTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0212 a0002c0016t0006g0212	1	368	0.0027	-12	c.152 others(29): Show c.1521-263_1521-252delATGCTGCTGTGT		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPHD2_chr22_26424260_26450015	26434157	GGGACGCA others(5): Show GGGACGCACAGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19089.hp1 NA19089.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0182 a0003c0009t0002g0182	1	428	0.0023	-12	c.543 others(19): Show c.543_554delGGACGCACAGAA	p.Asp others(13): Show p.Asp182_Lys185del	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/4	994/3370	543/1110	181/369			chr22	TogoVar
ASPH_chr8_61495556_61719592	61561087	GGAGGGAG others(5): Show GGAGGGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG02145.hp1 others(10): Show HG00741.hp1 HG01069.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0019 a0001c0001t0030 others(3): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0030 a0001c0002t0002 a0001c0002t0003 a0001c0006t0014	a0001c0001t0001g0193 a0001c0001t0019g0002 a0001c0001t0030g0196 others(10): Show a0001c0001t0001g0193 a0001c0001t0019g0002 a0001c0001t0030g0196 a0001c0002t0002g0026 a0001c0002t0002g0144 a0001c0002t0002g0155 a0001c0002t0002g0158 a0001c0002t0002g0194 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0203 a0001c0006t0014g0003 a0001c0006t0014g0004	13	258	0.0504	-12	c.143 others(31): Show c.1437+1645_1437+1656delTCTCCCTCCCTC		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61574523	AACGGATG others(5): Show AACGGATGAGTTC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00621.hp1 others(91): Show HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02809.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA19001.hp2 NA19002.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19067.hp1 NA19074.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA20805.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0005 a0001c0015 others(1): Show a0001c0001 a0001c0005 a0001c0015 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0005t0001 a0001c0015t0004 a0008c0014t0004	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0038 others(91): Show a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0002g0169 a0001c0001t0004g0201 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0006g0041 a0001c0001t0013g0106 a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0015g0008 a0001c0001t0016g0024 a0001c0001t0016g0099 a0001c0001t0024g0054 a0001c0001t0027g0044 a0001c0001t0028g0055 a0001c0001t0029g0195 a0001c0005t0001g0118 a0001c0005t0001g0157 a0001c0015t0004g0248 a0008c0014t0004g0239	94	258	0.3643	-12	c.114 others(31): Show c.1149+2237_1149+2248delGAACTCATCCGT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	16/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG01074.hp2 others(42): Show HG00423.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG02074.hp1 HG02280.hp1 HG02300.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18955.hp2 NA18959.hp1 NA18977.hp2 NA18988.hp1 NA19001.hp1 NA19004.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19082.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0002 a0001c0002t0020 a0001c0002t0022 a0001c0002t0026	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 others(42): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0190 a0001c0001t0002g0040 a0001c0001t0002g0058 a0001c0001t0004g0243 a0001c0001t0005g0030 a0001c0001t0005g0180 a0001c0001t0005g0188 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0041 a0001c0001t0006g0061 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0008g0242 a0001c0001t0008g0244 a0001c0001t0016g0024 a0001c0001t0017g0032 a0001c0001t0024g0054 a0001c0001t0025g0189 a0001c0001t0028g0055 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0051 a0001c0002t0020g0011 a0001c0002t0022g0060 a0001c0002t0026g0063	45	258	0.1744	-12	c.103 others(31): Show c.103+10063_103+10074delTTTTTTTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASPM_chr1_197079127_197151669	197132372	CAAATAAG others(5): Show CAAATAAGTTCAA	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	296	0.0034	-12	c.242 others(27): Show c.2420-32_2420-21delTTGAACTTATTT		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	6/27						chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69962199	GACACACA others(5): Show GACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	-12	c.-77 others(21): Show c.-775_-764delGTGTGTGTGTGT		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					569		chr2	TogoVar
ASPRV1_chr2_69955089_69966631	69965448	AAAAAACA others(5): Show AAAAAACAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00735.hp1 others(31): Show HG00408.hp2 HG00609.hp1 HG00735.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02080.hp2 HG02135.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG03654.hp2 HG03688.hp2 HG04199.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19056.hp1 NA19074.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0008g0000	34	464	0.0733	-12	c.-40 others(23): Show c.-4024_-4013delGTTTTTGTTTTT		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3818		chr2	TogoVar
ASPSCR1_chr17_81972629_82022406	81985021	CCACACCA others(5): Show CCACACCAACATG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19003.hp1 NA18942.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0224 a0002c0002t0001g0225	2	366	0.0055	-12	c.274 others(27): Show c.274-480_274-469delCAACATGCACAC		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82001990	TTTTTTCT others(5): Show TTTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	366	0.0027	-12	c.933 others(29): Show c.933+5145_933+5156delTTTTTCTTTTTC		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	7/15						chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82018466	AGCCCCCG others(5): Show AGCCCCCGTGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03139.hp2 NA18522.hp1 HG01891.hp2 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0167 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0167	3	366	0.0082	-12	c.11 others(23): Show c.1145_*1156delGCCCCCGTGGCT		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding					1061		chr17	TogoVar
ASPSCR1_chr17_81972629_82022406	82019838	GCCCGCAC others(5): Show GCCCGCACCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp1 HG03453.hp2 HG03471.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0023 a0004c0015t0001g0023	2	366	0.0055	-12	c.25 others(23): Show c.2517_*2528delCCCGCACCCCCA		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding					2433		chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 NA18612.hp2 others(2): Show HG02818.hp2 HG03225.hp2 NA18612.hp2 NA18946.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0009g0351 a0001c0001t0009g0352	5	370	0.0135	-12	c.491 others(29): Show c.491+5781_491+5792delTTTTTTTTTTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00673.hp1 others(17): Show HG00597.hp2 HG00639.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG02135.hp1 HG02723.hp1 HG02965.hp1 HG03041.hp1 HG04115.hp1 NA18612.hp2 NA18960.hp1 NA19074.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0005g0361 a0001c0001t0007g0320 a0001c0001t0007g0332 a0001c0001t0016g0040	20	370	0.0541	-12	c.492 others(31): Show c.492-13663_492-13652delATATATATATAT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375470	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19011.hp2 NA19060.hp2 others(1): Show HG02523.hp1 NA19011.hp2 NA19060.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0023 a0001c0002t0003 a0001c0001t0003 a0001c0001t0023 a0001c0002t0003	a0001c0001t0003g0163 a0001c0001t0003g0170 a0001c0001t0023g0137 others(1): Show a0001c0001t0003g0163 a0001c0001t0003g0170 a0001c0001t0023g0137 a0001c0002t0003g0312	4	370	0.0108	-12	c.492 others(31): Show c.492-13661_492-13650delATATATATATTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62395759	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG03710.hp2 NA18612.hp1 others(16): Show HG02027.hp2 HG03710.hp2 NA18612.hp1 NA18949.hp1 NA18955.hp1 NA18967.hp1 NA18969.hp1 NA18978.hp1 NA18980.hp1 NA18987.hp1 NA18990.hp1 NA18998.hp1 NA19010.hp2 NA19058.hp1 NA19072.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 others(16): Show a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0311 a0001c0002t0003g0312	19	370	0.0514	-12	c.34 others(23): Show c.3476_*3487delTTTTTTTTTTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding					2348		chr11	TogoVar
ASS1_chr9_130439961_130506274	130440692	TAAAATAA others(5): Show TAAAATAAAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG02145.hp1 HG03098.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0358 a0008c0011t0001g0166 a0001c0001t0001g0358 a0008c0011t0001g0166	2	374	0.0054	-12	c.-43 others(23): Show c.-4308_-4297delAAAATAAAAATA		ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding					4268		chr9	TogoVar

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