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	status	chr	external
ADAMTS6_chr5_65143738_65486920	65151950	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00423.hp2 HG00735.hp2 others(61): Show HG00323.hp1 HG00423.hp2 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02602.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp2 NA18942.hp1 NA18942.hp2 NA18953.hp1 NA18962.hp2 NA18984.hp1 NA18991.hp2 NA19001.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0003t0001 a0001c0008t0006 a0001c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0025 others(61): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0006g0054 a0001c0001t0006g0134 a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0011g0045 a0001c0001t0013g0016 a0001c0001t0015g0079 a0001c0001t0017g0204 a0001c0003t0001g0040 a0001c0003t0001g0052 a0001c0008t0006g0130 a0001c0013t0001g0069	64	204	0.3137	0	c.324 others(6): Show c.3245-5G>A		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	24/24					chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65451620	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0012 a0003c0009t0001g0012	1	204	0.0049	0	c.928 others(3): Show c.928C>G	p.Pro others(6): Show p.Pro310Ala	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	7/25	1785/7309	928/3354	310/1117		chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78762569	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(44): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02027.hp1 HG02486.hp2 HG02572.hp1 HG02698.hp2 HG03239.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18981.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0005 a0008 a0014 others(6): Show a0005 a0008 a0014 a0036 a0037 a0038 a0049 a0062 a0063	a0005c0005 a0005c0047 a0005c0108 others(8): Show a0005c0005 a0005c0047 a0005c0108 a0008c0008 a0014c0016 a0036c0107 a0037c0110 a0038c0109 a0049c0087 a0062c0073 a0063c0080	a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 others(9): Show a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 a0005c0108t0002 a0008c0008t0002 a0014c0016t0002 a0036c0107t0002 a0037c0110t0002 a0038c0109t0002 a0049c0087t0002 a0062c0073t0002 a0063c0080t0002	a0005c0005t0002g0007 a0005c0005t0002g0009 a0005c0005t0002g0116 others(42): Show a0005c0005t0002g0007 a0005c0005t0002g0009 a0005c0005t0002g0116 a0005c0005t0002g0118 a0005c0005t0002g0119 a0005c0005t0002g0120 a0005c0005t0002g0121 a0005c0005t0002g0122 a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0127 a0005c0005t0002g0137 a0005c0005t0002g0138 a0005c0005t0002g0143 a0005c0005t0002g0144 a0005c0005t0002g0173 a0005c0005t0002g0239 a0005c0005t0002g0240 a0005c0005t0011g0117 a0005c0047t0002g0139 a0005c0047t0002g0145 a0005c0108t0002g0125 a0008c0008t0002g0112 a0008c0008t0002g0128 a0008c0008t0002g0129 a0008c0008t0002g0130 a0008c0008t0002g0131 a0008c0008t0002g0133 a0008c0008t0002g0134 a0008c0008t0002g0135 a0008c0008t0002g0136 a0008c0008t0002g0140 a0008c0008t0002g0146 a0008c0008t0002g0243 a0014c0016t0002g0265 a0014c0016t0002g0269 a0014c0016t0002g0293 a0014c0016t0002g0294 a0014c0016t0002g0295 a0036c0107t0002g0142 a0037c0110t0002g0147 a0038c0109t0002g0113 a0049c0087t0002g0049 a0062c0073t0002g0105 a0063c0080t0002g0305	47	380	0.1237	0	c.474 others(6): Show c.4741-4T>C		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	22/23					chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78764712	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02004.hp2 HG02004.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0130 a0008c0008t0002g0130	1	380	0.0026	0	c.426 others(6): Show c.4267-5C>G		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	19/23					chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78771828	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG02074.hp1 HG02083.hp2 others(35): Show HG01884.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 NA18940.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18995.hp1 NA18997.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2	a0003 a0007 a0011 others(7): Show a0003 a0007 a0011 a0016 a0033 a0052 a0058 a0060 a0061 a0064	a0003c0082 a0007c0010 a0007c0029 others(15): Show a0003c0082 a0007c0010 a0007c0029 a0007c0030 a0007c0049 a0007c0052 a0007c0081 a0007c0083 a0011c0011 a0011c0053 a0016c0017 a0016c0079 a0033c0028 a0052c0088 a0058c0063 a0060c0054 a0061c0051 a0064c0055	a0003c0082t0001 a0007c0010t0001 a0007c0029t0001 others(15): Show a0003c0082t0001 a0007c0010t0001 a0007c0029t0001 a0007c0030t0001 a0007c0049t0001 a0007c0052t0001 a0007c0081t0001 a0007c0083t0001 a0011c0011t0001 a0011c0053t0001 a0016c0017t0001 a0016c0079t0001 a0033c0028t0001 a0052c0088t0001 a0058c0063t0001 a0060c0054t0001 a0061c0051t0001 a0064c0055t0001	a0003c0082t0001g0321 a0007c0010t0001g0040 a0007c0010t0001g0041 others(35): Show a0003c0082t0001g0321 a0007c0010t0001g0040 a0007c0010t0001g0041 a0007c0010t0001g0201 a0007c0010t0001g0202 a0007c0010t0001g0205 a0007c0010t0001g0209 a0007c0010t0001g0218 a0007c0010t0001g0223 a0007c0029t0001g0231 a0007c0029t0001g0234 a0007c0030t0001g0212 a0007c0030t0001g0213 a0007c0049t0001g0232 a0007c0052t0001g0200 a0007c0081t0001g0325 a0007c0083t0001g0340 a0011c0011t0001g0198 a0011c0011t0001g0207 a0011c0011t0001g0211 a0011c0011t0001g0214 a0011c0011t0001g0215 a0011c0011t0001g0216 a0011c0011t0001g0224 a0011c0011t0001g0225 a0011c0053t0001g0222 a0016c0017t0001g0203 a0016c0017t0001g0204 a0016c0017t0001g0210 a0016c0017t0001g0221 a0016c0079t0001g0260 a0033c0028t0001g0220 a0033c0028t0001g0226 a0052c0088t0001g0261 a0058c0063t0001g0217 a0060c0054t0001g0042 a0061c0051t0001g0208 a0064c0055t0001g0206	38	380	0.1000	0	c.213 others(4): Show c.2133G>A	p.Gly others(6): Show p.Gly711Gly	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	15/24	2377/5520	2133/5061	711/1686		chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78774616	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0055 a0001c0006t0001g0055	1	380	0.0026	0	c.187 others(6): Show c.1876+8C>T		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	12/23					chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78774796	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA18990.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0304 a0009c0009t0001g0304	1	380	0.0026	0	c.170 others(6): Show c.1707-3C>T		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	11/23					chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78776190	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG02922.hp1 NA19240.hp2 HG01884.hp1 HG02922.hp1 NA19240.hp2	a0004 a0007 a0004 a0007	a0004c0050 a0007c0049 a0007c0081 a0004c0050 a0007c0049 a0007c0081	a0004c0050t0001 a0007c0049t0001 a0007c0081t0001 a0004c0050t0001 a0007c0049t0001 a0007c0081t0001	a0004c0050t0001g0233 a0007c0049t0001g0232 a0007c0081t0001g0325 a0004c0050t0001g0233 a0007c0049t0001g0232 a0007c0081t0001g0325	3	380	0.0079	0	c.170 others(4): Show c.1704T>C	p.Pro others(6): Show p.Pro568Pro	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	11/24	1948/5520	1704/5061	568/1686		chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78776845	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01261.hp2 HG01496.hp1 others(6): Show HG00741.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02602.hp2 HG03239.hp2 HG03491.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0177 others(4): Show a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0182 a0003c0003t0003g0183	9	380	0.0237	0	c.146 others(6): Show c.1468-4G>A		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	9/23					chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78776846	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA20129.hp2 NA18906.hp1 NA20129.hp2	a0023 a0023	a0023c0046 a0023c0046	a0023c0046t0001 a0023c0046t0001	a0023c0046t0001g0153 a0023c0046t0001g0155 a0023c0046t0001g0153 a0023c0046t0001g0155	2	380	0.0053	0	c.146 others(6): Show c.1468-5C>T		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	9/23					chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78789690	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19077.hp2 NA19077.hp2	a0058 a0058	a0058c0063 a0058c0063	a0058c0063t0001 a0058c0063t0001	a0058c0063t0001g0217 a0058c0063t0001g0217	1	380	0.0026	0	c.117 others(4): Show c.1177A>C	p.Ser others(6): Show p.Ser393Arg	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	7/24	1421/5520	1177/5061	393/1686		chr15	TogoVar
ADAMTS8_chr11_130399923_130433609	130408646	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0006 a0004c0016t0006	a0004c0016t0006g0081 a0004c0016t0006g0081	1	424	0.0024	0	c.192 others(6): Show c.1924-7G>A		ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	7/8					chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130411412	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0003 a0002c0042t0003	a0002c0042t0003g0245 a0002c0042t0003g0245	1	424	0.0024	0	c.175 others(6): Show c.1750+5T>C		ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	6/8					chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130416932	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA19011.hp2 NA18957.hp2 NA19011.hp2	a0002 a0026 a0002 a0026	a0002c0004 a0026c0044 a0002c0004 a0026c0044	a0002c0004t0003 a0026c0044t0003 a0002c0004t0003 a0026c0044t0003	a0002c0004t0003g0205 a0026c0044t0003g0188 a0002c0004t0003g0205 a0026c0044t0003g0188	2	424	0.0047	0	c.109 others(6): Show c.1096+8T>A		ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	3/8					chr11	TogoVar
ADAMTS9_chr3_64510654_64693000	64539299	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0149 a0002c0002t0003g0149	1	286	0.0035	0	c.552 others(6): Show c.5522-5C>T		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	36/39					chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64551066	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	286	0.0035	0	c.469 others(6): Show c.4699-4A>T		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	30/39					chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64613337	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02622.hp2 HG02922.hp1 others(2): Show HG02486.hp1 HG02622.hp2 HG02922.hp1 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0236 a0001c0004t0001g0238 a0001c0004t0001g0239 others(2): Show a0001c0004t0001g0236 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0242 a0001c0004t0002g0240	5	286	0.0175	0	c.335 others(6): Show c.3354+8G>T		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	22/39					chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64649783	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0153 a0002c0002t0003g0153	1	286	0.0035	0	c.146 others(6): Show c.1464-5C>T		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	9/39					chr3	TogoVar
ADAMTSL2_chr9_133529704_133580519	133536800	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02647.hp2 HG02723.hp2 HG02647.hp2 HG02723.hp2	a0003 a0003	a0003c0036 a0003c0037 a0003c0036 a0003c0037	a0003c0036t0001 a0003c0037t0001 a0003c0036t0001 a0003c0037t0001	a0003c0036t0001g0113 a0003c0037t0001g0114 a0003c0036t0001g0113 a0003c0037t0001g0114	2	152	0.0132	0	c.88A others(2): Show c.88A>G	p.Thr others(5): Show p.Thr30Ala	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	2/19	452/3875	88/2856	30/951		chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83773520	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(31): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01071.hp2 HG01515.hp1 HG01517.hp2 HG02135.hp1 HG02155.hp2 HG02622.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG04228.hp2 NA18939.hp2 NA18944.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19060.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0042	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0064 a0042c0040	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0007c0064t0001 a0042c0040t0001	a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0159 others(31): Show a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0215 a0002c0002t0001g0165 a0002c0002t0001g0168 a0003c0003t0001g0098 a0003c0003t0001g0121 a0003c0003t0001g0131 a0003c0003t0001g0154 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0169 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0233 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0246 a0007c0064t0001g0179 a0042c0040t0001g0171	34	274	0.1241	0	c.190 others(5): Show c.190-3T>C		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	3/29					chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83924031	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0012 a0012	a0012c0035 a0012c0035	a0012c0035t0001 a0012c0035t0001	a0012c0035t0001g0127 a0012c0035t0001g0127	1	274	0.0037	0	c.211 others(4): Show c.2115C>T	p.Pro others(6): Show p.Pro705Pro	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	17/30	2302/7299	2115/5076	705/1691		chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	84016366	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02257.hp1 HG02258.hp1 others(10): Show HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03540.hp1 NA19240.hp1	a0007 a0026 a0038 a0007 a0026 a0038	a0007c0007 a0007c0025 a0007c0064 others(2): Show a0007c0007 a0007c0025 a0007c0064 a0026c0032 a0038c0047	a0007c0007t0001 a0007c0007t0013 a0007c0025t0014 others(3): Show a0007c0007t0001 a0007c0007t0013 a0007c0025t0014 a0007c0064t0001 a0026c0032t0001 a0038c0047t0001	a0007c0007t0001g0001 a0007c0007t0001g0059 a0007c0007t0001g0060 others(10): Show a0007c0007t0001g0001 a0007c0007t0001g0059 a0007c0007t0001g0060 a0007c0007t0001g0061 a0007c0007t0001g0062 a0007c0007t0001g0063 a0007c0007t0001g0068 a0007c0007t0001g0116 a0007c0007t0013g0064 a0007c0025t0014g0157 a0007c0064t0001g0179 a0026c0032t0001g0091 a0038c0047t0001g0002	13	274	0.0475	1	c.415 others(7): Show c.4157-7dupT		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	24/29				INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	84036991	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG02970.hp2	a0020 a0020	a0020c0065 a0020c0065	a0020c0065t0008 a0020c0065t0008	a0020c0065t0008g0036 a0020c0065t0008g0036	1	274	0.0037	0	c.496 others(6): Show c.4969+4C>G		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	29/29					chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1507403	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0005 a0009c0016t0005	a0009c0016t0005g0149 a0009c0016t0005g0149	1	352	0.0028	0	c.691 others(3): Show c.691C>A	p.Leu others(6): Show p.Leu231Met	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	9/12	965/2683	691/1416	231/471		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1510639	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0036 a0004c0009t0036	a0004c0009t0036g0210 a0004c0009t0036g0210	1	352	0.0028	0	c.191 others(3): Show c.191G>A	p.Arg others(5): Show p.Arg64Gln	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	3/12	465/2683	191/1416	64/471		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1512964	G G	A A	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(23): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG01943.hp1 HG01993.hp2 HG02630.hp1 NA18948.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18995.hp2 NA19007.hp2 NA19054.hp1 NA19066.hp1 NA19082.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0004c0009	a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 others(7): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0003t0038 a0001c0005t0006 a0004c0009t0036	a0001c0001t0006g0008 a0001c0001t0006g0040 a0001c0001t0006g0212 others(14): Show a0001c0001t0006g0008 a0001c0001t0006g0040 a0001c0001t0006g0212 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0219 a0001c0001t0009g0041 a0001c0001t0009g0213 a0001c0001t0009g0218 a0001c0001t0015g0042 a0001c0001t0033g0222 a0001c0001t0034g0221 a0001c0001t0035g0220 a0001c0001t0037g0217 a0001c0003t0038g0214 a0001c0005t0006g0211 a0004c0009t0036g0210	26	352	0.0739	0	c.-21 others(4): Show c.-219C>T		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	1/12					chr19	TogoVar
ADAP1_chr7_892900_959680	900620	G G	GGGGCAAA others(3): Show GGGGCAAAGGC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG02280.hp2 HG01346.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	2	14	0.1429	10	c.649 others(21): Show c.649-5_649-4insGCCTTTGCCC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10					chr7	TogoVar
ADAP1_chr7_892900_959680	900621	G G	GGGCAAAG others(3): Show GGGCAAAGGCA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01993.hp1 HG01993.hp2 others(6): Show HG01346.hp1 HG01993.hp1 HG01993.hp2 HG02280.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG04115.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0012 a0001c0001t0003g0003	9	14	0.6429	10	c.649 others(21): Show c.649-6_649-5insTGCCTTTGCC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10					chr7	TogoVar
ADAP1_chr7_892900_959680	920055	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	0	c.306 others(5): Show c.306-5C>T		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10					chr7	TogoVar
ADAP2_chr17_30916945_30964322	30949282	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 NA21309.hp2 HG02257.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0236 a0001c0001t0010g0169 a0001c0001t0010g0236	2	282	0.0071	0	c.658 others(5): Show c.658-5C>T		ADAP2	ENSG00000184060.11	transcript	ENST00000330889.8	protein_coding	6/10					chr17	TogoVar
ADARB2_chr10_1172313_1742525	1183377	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0061 a0002c0002t0042g0061	1	106	0.0094	0	c.204 others(6): Show c.2044-8G>A		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	9/9					chr10	TogoVar
ADARB2_chr10_1172313_1742525	1185046	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	106	0.0094	0	c.186 others(6): Show c.1865-7C>T		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	8/9					chr10	TogoVar
ADARB2_chr10_1172313_1742525	1242125	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG02683.hp1 HG02602.hp2 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0004 a0001c0001t0009 a0002c0002t0004	a0001c0001t0009g0055 a0002c0002t0004g0101 a0001c0001t0009g0055 a0002c0002t0004g0101	2	106	0.0189	0	c.136 others(6): Show c.1361+6C>T		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
ADAR_chr1_154577057_154613186	154585209	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(164): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0014 a0001c0015 others(6): Show a0001c0001 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0007c0023 a0009c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0014t0014 a0001c0015t0002 a0001c0016t0002 a0001c0017t0002 a0001c0018t0002 a0001c0021t0002 a0007c0023t0002 a0009c0020t0010	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0021 others(113): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0196 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0216 a0001c0001t0004g0229 a0001c0001t0010g0075 a0001c0001t0010g0088 a0001c0001t0011g0074 a0001c0001t0015g0106 a0001c0001t0016g0107 a0001c0014t0014g0127 a0001c0015t0002g0150 a0001c0016t0002g0085 a0001c0017t0002g0234 a0001c0018t0002g0114 a0001c0021t0002g0084 a0007c0023t0002g0235 a0009c0020t0010g0083	167	416	0.4014	0	c.344 others(6): Show c.3443+8G>A		ADAR	ENSG00000160710.18	transcript	ENST00000368474.9	protein_coding	14/14					chr1	TogoVar
ADAR_chr1_154577057_154613186	154598397	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	416	0.0024	0	c.178 others(6): Show c.1785+5G>A		ADAR	ENSG00000160710.18	transcript	ENST00000368474.9	protein_coding	3/14					chr1	TogoVar
ADAT1_chr16_75591868_75628281	75608217	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0100 a0004c0005t0050g0100	1	348	0.0029	0	c.128 others(6): Show c.1289+7C>T		ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	8/9					chr16	TogoVar
ADAT2_chr6_143417832_143455695	143433985	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	322	0.0031	0	c.202 others(5): Show c.202-4T>A		ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	2/5					chr6	TogoVar
ADAT3_chr19_1900399_1918447	1905447	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	442	0.0023	0	c.-15 others(6): Show c.-159+8C>G		ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	1/1					chr19	TogoVar
ADA_chr20_44614522_44656699	44636286	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 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 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0015 a0001c0017 a0002c0003 a0003c0005 a0003c0008 a0004c0011 a0006c0014 a0007c0016 a0008c0013 a0009c0012 a0010c0018 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0015t0001 a0001c0017t0001 a0002c0003t0001 a0003c0005t0001 a0003c0008t0001 a0004c0011t0001 a0006c0014t0001 a0007c0016t0001 a0008c0013t0001 a0009c0012t0001 a0010c0018t0001 a0011c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(260): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0268 a0001c0001t0003g0034 a0001c0001t0004g0244 a0001c0001t0005g0262 a0001c0001t0006g0269 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0247 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0004t0001g0044 a0001c0004t0001g0089 a0001c0004t0001g0113 a0001c0004t0001g0115 a0001c0004t0001g0134 a0001c0004t0001g0213 a0001c0004t0001g0234 a0001c0006t0001g0157 a0001c0006t0001g0187 a0001c0006t0001g0198 a0001c0006t0001g0204 a0001c0006t0001g0228 a0001c0006t0001g0257 a0001c0009t0001g0160 a0001c0009t0001g0227 a0001c0015t0001g0075 a0001c0017t0001g0130 a0002c0003t0001g0010 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0163 a0002c0003t0001g0220 a0002c0003t0001g0242 a0002c0003t0001g0250 a0002c0003t0001g0267 a0003c0005t0001g0035 a0003c0005t0001g0037 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0008t0001g0012 a0003c0008t0001g0036 a0003c0008t0001g0038 a0004c0011t0001g0094 a0006c0014t0001g0176 a0007c0016t0001g0188 a0008c0013t0001g0159 a0009c0012t0001g0095 a0010c0018t0001g0097 a0011c0010t0001g0043	319	328	0.9726	0	c.36G others(2): Show c.36G>A	p.Val others(5): Show p.Val12Val	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	2/12	128/1496	36/1092	12/363		chr20	TogoVar
ADCK1_chr14_77795109_77940014	77859285	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18951.hp1 NA18960.hp1 NA18966.hp1 NA18951.hp1 NA18960.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097	3	286	0.0105	0	c.423 others(5): Show c.423+6C>T		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	4/10					chr14	TogoVar
ADCK2_chr7_140667945_140700110	140674611	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0047 a0008c0012t0001g0047	1	290	0.0035	0	c.934 others(3): Show c.934G>A	p.Val others(6): Show p.Val312Met	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	2/8	1320/2574	934/1881	312/626		chr7	TogoVar
ADCK5_chr8_144369047_144398242	144392334	T T	TGGGGGTG others(8): Show TGGGGGTGCAAGGTGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0009 a0004c0005 others(1): Show a0002c0002 a0002c0009 a0004c0005 a0007c0007	a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 others(2): Show a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 a0004c0005t0001 a0007c0007t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 others(72): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0007g0002 a0002c0009t0001g0012 a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186 a0007c0007t0001g0165	126	346	0.3642	15	c.126 others(26): Show c.1260_1267+7dupGGTGCAAGGTGAGGG		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392334	T T	TGGGGGTG others(9): Show TGGGGGTGCAAGGTGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0124 a0006c0008t0001g0124	1	346	0.0029	16	c.125 others(27): Show c.1259_1267+7dupGGGTGCAAGGTGAGGG		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392353	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0176 a0003c0004t0001g0176	1	346	0.0029	0	c.126 others(6): Show c.1267+8C>G		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14					chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392414	C C	CCCCT CCCCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG01981.hp2 HG02145.hp1 others(7): Show HG01192.hp1 HG01981.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02630.hp2 HG03130.hp1 HG03471.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0202 a0001c0001t0002g0107 a0001c0001t0002g0108 others(4): Show a0001c0001t0001g0202 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0169	10	346	0.0289	4	c.126 others(17): Show c.1268-7_1268-4dupTCCC		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392414	C C	CCCCTCCC others(5): Show CCCCTCCCTCCCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 NA21309.hp1 HG02300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0064 a0001c0001t0001g0125 a0001c0001t0002g0064	2	346	0.0058	12	c.126 others(26): Show c.1268-15_1268-4dupTCCCTCCCTCCC		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392414	CCCCT CCCCT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG01175.hp1 HG01361.hp2 others(22): Show HG00438.hp2 HG01175.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG02080.hp2 HG02257.hp1 HG02257.hp2 HG02647.hp1 HG02738.hp1 HG03195.hp2 HG03654.hp1 HG03927.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18961.hp1 NA18975.hp2 NA18983.hp2 NA18997.hp2 NA19003.hp2 NA19063.hp1 NA19087.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0122 others(17): Show a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0024 a0001c0001t0002g0084 a0001c0001t0002g0106 a0002c0002t0001g0011 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0182 a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186	25	346	0.0723	-4	c.126 others(17): Show c.1268-7_1268-4delTCCC		ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392695	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(47): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp2 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0013 others(28): Show a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0049 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0006g0039	50	346	0.1445	0	c.151 others(4): Show c.1518A>G	p.Lys others(6): Show p.Lys506Lys	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	13/15	1567/1960	1518/1743	506/580		chr8	TogoVar
ADCY10_chr1_167804386_167919134	167818069	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02895.hp2 HG03041.hp2 HG02717.hp1 HG02895.hp2 HG03041.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0004 a0004c0011 a0015c0034 a0001c0004 a0004c0011 a0015c0034	a0001c0004t0001 a0004c0011t0002 a0015c0034t0002 a0001c0004t0001 a0004c0011t0002 a0015c0034t0002	a0001c0004t0001g0187 a0004c0011t0002g0296 a0015c0034t0002g0202 a0001c0004t0001g0187 a0004c0011t0002g0296 a0015c0034t0002g0202	3	326	0.0092	0	c.448 others(6): Show c.4482+3G>A		ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	31/32					chr1	TogoVar
ADCY10_chr1_167804386_167919134	167829259	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG00735.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0175 a0017c0036t0001g0175	1	326	0.0031	0	c.375 others(6): Show c.3750+8A>T		ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	26/32					chr1	TogoVar

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