Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ACADL_chr2_210182923_210230447	210195206	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	274	0.0037	0	c.111 others(6): Show c.1112+5G>A		ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	9/10					chr2	TogoVar
ACADM_chr1_75719709_75768679	75733627	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0352 a0003c0007t0002g0352	1	364	0.0028	0	c.386 others(3): Show c.386G>C	p.Gly others(6): Show p.Gly129Ala	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	5/12	465/2261	386/1266	129/421		chr1	TogoVar
ACADSB_chr10_123004006_123063290	123034358	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0123 a0001c0017t0002g0123	1	374	0.0027	0	c.45A others(2): Show c.45A>C	p.Leu others(5): Show p.Leu15Leu	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	2/11	69/5848	45/1299	15/432		chr10	TogoVar
ACADS_chr12_120720826_120745008	120737135	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(56): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02523.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0013 a0001c0003t0014 others(1): Show a0001c0003t0003 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015	a0001c0003t0003g0002 a0001c0003t0003g0021 a0001c0003t0003g0022 others(36): Show a0001c0003t0003g0002 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0038 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0146 a0001c0003t0003g0157 a0001c0003t0013g0002 a0001c0003t0014g0022 a0001c0003t0015g0021	59	426	0.1385	0	c.360 others(3): Show c.360C>T	p.Asn others(6): Show p.Asn120Asn	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	3/10	420/1859	360/1239	120/412		chr12	TogoVar
ACADS_chr12_120720826_120745008	120738280	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00438.hp2 HG00639.hp1 others(55): Show HG00140.hp1 HG00438.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02683.hp2 HG02723.hp2 HG03098.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18975.hp1 NA18982.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19077.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0002c0010 a0002c0015 others(1): Show a0002c0004 a0002c0010 a0002c0015 a0010c0017	a0002c0004t0002 a0002c0010t0002 a0002c0015t0002 others(1): Show a0002c0004t0002 a0002c0010t0002 a0002c0015t0002 a0010c0017t0002	a0002c0004t0002g0003 a0002c0004t0002g0007 a0002c0004t0002g0012 others(36): Show a0002c0004t0002g0003 a0002c0004t0002g0007 a0002c0004t0002g0012 a0002c0004t0002g0048 a0002c0004t0002g0049 a0002c0004t0002g0050 a0002c0004t0002g0065 a0002c0004t0002g0108 a0002c0004t0002g0119 a0002c0004t0002g0120 a0002c0004t0002g0121 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0124 a0002c0004t0002g0128 a0002c0004t0002g0174 a0002c0004t0002g0198 a0002c0004t0002g0199 a0002c0004t0002g0200 a0002c0004t0002g0201 a0002c0004t0002g0202 a0002c0004t0002g0204 a0002c0004t0002g0205 a0002c0004t0002g0207 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0210 a0002c0004t0002g0211 a0002c0004t0002g0212 a0002c0004t0002g0213 a0002c0004t0002g0214 a0002c0004t0002g0215 a0002c0004t0002g0219 a0002c0004t0002g0220 a0002c0004t0002g0221 a0002c0004t0002g0261 a0002c0010t0002g0003 a0002c0015t0002g0048 a0010c0017t0002g0206	58	426	0.1362	0	c.625 others(3): Show c.625G>A	p.Gly others(6): Show p.Gly209Ser	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	6/10	685/1859	625/1239	209/412		chr12	TogoVar
ACADVL_chr17_7214938_7230266	7221944	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG03098.hp2 HG02486.hp1 HG03098.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0022 a0006c0008t0001g0023 a0006c0008t0001g0022 a0006c0008t0001g0023	2	398	0.0050	0	c.623 others(5): Show c.623-8C>T		ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	7/19					chr17	TogoVar
ACADVL_chr17_7214938_7230266	7224399	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0001c0012 others(2): Show a0001c0001 a0001c0007 a0001c0012 a0001c0014 a0004c0005	a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 a0001c0014t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0007t0001g0001 a0001c0012t0001g0001 a0001c0014t0001g0001 a0004c0005t0001g0007	203	398	0.5101	0	c.160 others(6): Show c.1605+6T>C		ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	16/19					chr17	TogoVar
ACADVL_chr17_7214938_7230266	7224953	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG02970.hp2 HG02717.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0016 a0005c0006t0001g0016	2	398	0.0050	0	c.182 others(6): Show c.1828-4C>G		ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	19/19					chr17	TogoVar
ACAN_chr15_88798436_88880353	88849739	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG01256.hp2 HG01258.hp1 HG00140.hp1 HG01256.hp2 HG01258.hp1	a0002 a0021 a0002 a0021	a0002c0001 a0021c0040 a0002c0001 a0021c0040	a0002c0001t0001 a0021c0040t0001 a0002c0001t0001 a0021c0040t0001	a0002c0001t0001g0223 a0021c0040t0001g0002 a0002c0001t0001g0223 a0021c0040t0001g0002	3	368	0.0082	0	c.202 others(6): Show c.2026+8G>C		ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	10/18					chr15	TogoVar
ACAN_chr15_88798436_88880353	88872088	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19009.hp2 NA19067.hp2 NA19009.hp2 NA19067.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0330 a0005c0004t0001g0340 a0005c0004t0001g0330 a0005c0004t0001g0340	2	368	0.0054	0	c.730 others(6): Show c.7302+3G>A		ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	16/18					chr15	TogoVar
ACAN_chr15_88798436_88880353	88874024	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02273.hp2 HG02273.hp2	a0080 a0080	a0080c0125 a0080c0125	a0080c0125t0001 a0080c0125t0001	a0080c0125t0001g0226 a0080c0125t0001g0226	1	368	0.0027	0	c.763 others(4): Show c.7630C>T	p.Pro others(7): Show p.Pro2544Ser	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	18/19	8011/8960	7630/7707	2544/2568		chr15	TogoVar
ACAN_chr15_88798436_88880353	88874398	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00597.hp2 HG00673.hp2 others(60): Show HG00140.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG02004.hp2 HG02027.hp1 HG02083.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02896.hp2 HG03139.hp1 HG03239.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18965.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18990.hp1 NA19030.hp2 NA19079.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0004 a0006 a0009 others(24): Show a0004 a0006 a0009 a0010 a0011 a0015 a0021 a0026 a0027 a0028 a0031 a0032 a0034 a0037 a0046 a0054 a0058 a0068 a0088 a0090 a0092 a0094 a0105 a0114 a0130 a0135 a0144	a0004c0005 a0004c0010 a0004c0155 others(32): Show a0004c0005 a0004c0010 a0004c0155 a0006c0008 a0006c0017 a0009c0013 a0009c0095 a0009c0137 a0009c0172 a0010c0009 a0011c0021 a0015c0039 a0021c0040 a0026c0043 a0027c0032 a0028c0024 a0031c0030 a0031c0090 a0032c0182 a0034c0028 a0037c0054 a0046c0140 a0046c0143 a0054c0076 a0058c0071 a0068c0134 a0088c0129 a0090c0163 a0092c0104 a0094c0161 a0105c0190 a0114c0101 a0130c0086 a0135c0185 a0144c0193	a0004c0005t0001 a0004c0010t0001 a0004c0155t0001 others(33): Show a0004c0005t0001 a0004c0010t0001 a0004c0155t0001 a0006c0008t0001 a0006c0017t0001 a0009c0013t0001 a0009c0095t0001 a0009c0137t0001 a0009c0172t0001 a0010c0009t0001 a0011c0021t0001 a0015c0039t0001 a0021c0040t0001 a0026c0043t0001 a0026c0043t0008 a0027c0032t0001 a0028c0024t0001 a0031c0030t0001 a0031c0090t0001 a0032c0182t0001 a0034c0028t0001 a0037c0054t0001 a0046c0140t0001 a0046c0143t0001 a0054c0076t0001 a0058c0071t0001 a0068c0134t0013 a0088c0129t0001 a0090c0163t0001 a0092c0104t0001 a0094c0161t0001 a0105c0190t0001 a0114c0101t0001 a0130c0086t0001 a0135c0185t0001 a0144c0193t0001	a0004c0005t0001g0028 a0004c0010t0001g0035 a0004c0010t0001g0084 others(57): Show a0004c0005t0001g0028 a0004c0010t0001g0035 a0004c0010t0001g0084 a0004c0010t0001g0134 a0004c0010t0001g0144 a0004c0010t0001g0253 a0004c0010t0001g0260 a0004c0155t0001g0036 a0006c0008t0001g0024 a0006c0008t0001g0088 a0006c0008t0001g0111 a0006c0008t0001g0166 a0006c0008t0001g0250 a0006c0008t0001g0354 a0006c0017t0001g0093 a0006c0017t0001g0275 a0006c0017t0001g0276 a0009c0013t0001g0073 a0009c0013t0001g0307 a0009c0013t0001g0308 a0009c0013t0001g0353 a0009c0095t0001g0076 a0009c0137t0001g0281 a0009c0172t0001g0311 a0010c0009t0001g0004 a0010c0009t0001g0262 a0010c0009t0001g0323 a0011c0021t0001g0003 a0011c0021t0001g0297 a0015c0039t0001g0113 a0015c0039t0001g0263 a0021c0040t0001g0002 a0026c0043t0001g0347 a0026c0043t0008g0294 a0027c0032t0001g0261 a0028c0024t0001g0014 a0028c0024t0001g0149 a0028c0024t0001g0150 a0031c0030t0001g0337 a0031c0030t0001g0338 a0031c0090t0001g0179 a0032c0182t0001g0148 a0034c0028t0001g0064 a0034c0028t0001g0194 a0037c0054t0001g0313 a0037c0054t0001g0326 a0046c0140t0001g0342 a0046c0143t0001g0174 a0054c0076t0001g0361 a0058c0071t0001g0221 a0068c0134t0013g0280 a0088c0129t0001g0255 a0090c0163t0001g0094 a0092c0104t0001g0293 a0094c0161t0001g0040 a0105c0190t0001g0044 a0114c0101t0001g0211 a0130c0086t0001g0327 a0135c0185t0001g0108 a0144c0193t0001g0038	63	368	0.1712	0	c.763 others(6): Show c.7631-7G>A		ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	18/18					chr15	TogoVar
ACAP1_chr17_7331529_7356477	7343698	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02257.hp2 HG02559.hp2 others(3): Show HG01884.hp1 HG02257.hp2 HG02559.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 others(3): Show a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0002t0001g0148	6	446	0.0135	0	c.529 others(5): Show c.529-8G>A		ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	6/21					chr17	TogoVar
ACAP2_chr3_195269745_195448020	195295897	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show HG00438.hp2 HG00558.hp2 HG00673.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19078.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0025 a0001c0002t0035	a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0205 a0001c0002t0004g0319 a0001c0002t0015g0029 a0001c0002t0015g0038 a0001c0002t0015g0039 a0001c0002t0025g0037 a0001c0002t0035g0058	38	324	0.1173	0	c.148 others(6): Show c.1488-5G>A		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	16/22					chr3	TogoVar
ACAP2_chr3_195269745_195448020	195307219	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0130 a0001c0001t0032g0130	1	324	0.0031	0	c.101 others(6): Show c.1010+4A>G		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	12/22					chr3	TogoVar
ACAP3_chr1_1287391_1312930	1296207	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG03017.hp1 NA20805.hp1 HG01106.hp2 HG03017.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204	3	295	0.0102	0	c.140 others(6): Show c.1407+4C>T		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	16/23					chr1	TogoVar
ACAP3_chr1_1287391_1312930	1298561	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(167): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0004c0009 a0005c0018 a0006c0014 a0007c0017 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 a0001c0005t0002 a0001c0013t0001 a0001c0016t0002 a0001c0019t0002 a0001c0020t0002 a0001c0021t0001 a0001c0024t0006 a0004c0009t0003 a0005c0018t0006 a0006c0014t0002 a0007c0017t0001 a0008c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(126): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0214 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0003g0002 a0001c0001t0003g0123 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0006g0053 a0001c0001t0008g0112 a0001c0001t0009g0075 a0001c0001t0010g0148 a0001c0001t0011g0074 a0001c0001t0013g0128 a0001c0002t0001g0021 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0006g0096 a0001c0003t0002g0010 a0001c0003t0002g0107 a0001c0003t0002g0119 a0001c0003t0002g0134 a0001c0005t0002g0022 a0001c0005t0002g0089 a0001c0013t0001g0047 a0001c0016t0002g0108 a0001c0019t0002g0133 a0001c0020t0002g0110 a0001c0021t0001g0085 a0001c0024t0006g0072 a0004c0009t0003g0124 a0005c0018t0006g0078 a0006c0014t0002g0140 a0007c0017t0001g0083 a0008c0008t0001g0035	170	295	0.5763	0	c.863 others(5): Show c.863+6A>G		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	11/23					chr1	TogoVar
ACAT1_chr11_108116567_108152603	108134200	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01109.hp1 HG01123.hp2 others(33): Show HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01981.hp2 HG02109.hp1 HG02148.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02683.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 NA18939.hp2 NA18953.hp1 NA18960.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19074.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0001c0001t0001 a0001c0001t0006 a0001c0003t0003	a0001c0001t0001g0133 a0001c0001t0006g0158 a0001c0003t0003g0009 others(23): Show a0001c0001t0001g0133 a0001c0001t0006g0158 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0192 a0001c0003t0003g0325	36	386	0.0933	-1	c.239 others(6): Show c.239-8delT		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	3/11				INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108134213	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	386	0.0026	0	c.239 others(5): Show c.239-8T>A		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	3/11					chr11	TogoVar
ACAT1_chr11_108116567_108152603	108138894	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 NA18950.hp2 NA19005.hp2 others(1): Show HG00558.hp1 NA18950.hp2 NA19005.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0270 a0002c0002t0002g0274 others(1): Show a0002c0002t0002g0246 a0002c0002t0002g0270 a0002c0002t0002g0274 a0002c0002t0002g0302	4	386	0.0104	0	c.436 others(5): Show c.436-4G>A		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	5/11					chr11	TogoVar
ACAT2_chr6_159757045_159784112	159775311	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18967.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18987.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19083.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 others(1): Show a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003	a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0011 others(67): Show a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0020 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0004t0001g0007 a0002c0004t0001g0021 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0025 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0004t0001g0122 a0002c0004t0001g0131 a0002c0004t0001g0132 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0002g0062 a0002c0004t0003g0021 a0002c0004t0003g0110 a0002c0004t0003g0129	139	404	0.3441	0	c.632 others(3): Show c.632A>G	p.Lys others(6): Show p.Lys211Arg	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	5/9	675/1520	632/1194	211/397		chr6	TogoVar
ACAT2_chr6_159757045_159784112	159775319	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	404	0.0025	0	c.634 others(5): Show c.634+6T>C		ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	5/8					chr6	TogoVar
ACAT2_chr6_159757045_159784112	159778655	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0001 a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0007t0002	a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0001g0083 others(115): Show a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0048 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0004g0063 a0001c0005t0001g0008 a0001c0005t0001g0058 a0001c0005t0001g0081 a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0020 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0004t0001g0007 a0002c0004t0001g0021 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0025 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0004t0001g0122 a0002c0004t0001g0131 a0002c0004t0001g0132 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0002g0062 a0002c0004t0003g0021 a0002c0004t0003g0110 a0002c0004t0003g0129 a0003c0007t0002g0001	278	404	0.6881	0	c.102 others(6): Show c.1024-4T>C		ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	8/8					chr6	TogoVar
ACBD4_chr17_45130687_45149176	45137899	ACTCAT ACTCAT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp2 NA18941.hp2 NA18951.hp1 others(2): Show NA18612.hp2 NA18941.hp2 NA18951.hp1 NA18964.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	5	452	0.0111	-5	c.574 others(16): Show c.574-9_574-5delTCTCA		ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding	7/9				INFO_REALIGN_3_PRIME	chr17	TogoVar
ACBD5_chr10_27190214_27245797	27218190	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(49): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18939.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA19000.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19085.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0010 a0003c0006 others(1): Show a0001c0005 a0001c0010 a0003c0006 a0003c0013	a0001c0005t0002 a0001c0005t0008 a0001c0005t0014 others(5): Show a0001c0005t0002 a0001c0005t0008 a0001c0005t0014 a0001c0005t0016 a0001c0010t0017 a0003c0006t0004 a0003c0006t0018 a0003c0013t0004	a0001c0005t0002g0030 a0001c0005t0002g0031 a0001c0005t0002g0032 others(46): Show a0001c0005t0002g0030 a0001c0005t0002g0031 a0001c0005t0002g0032 a0001c0005t0002g0117 a0001c0005t0002g0118 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0005t0002g0122 a0001c0005t0002g0123 a0001c0005t0002g0147 a0001c0005t0002g0154 a0001c0005t0002g0155 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0193 a0001c0005t0002g0196 a0001c0005t0002g0202 a0001c0005t0002g0210 a0001c0005t0008g0168 a0001c0005t0008g0169 a0001c0005t0008g0170 a0001c0005t0008g0171 a0001c0005t0014g0151 a0001c0005t0016g0195 a0001c0010t0017g0358 a0003c0006t0004g0001 a0003c0006t0004g0124 a0003c0006t0004g0125 a0003c0006t0004g0126 a0003c0006t0004g0127 a0003c0006t0004g0128 a0003c0006t0004g0129 a0003c0006t0004g0130 a0003c0006t0004g0131 a0003c0006t0004g0132 a0003c0006t0004g0133 a0003c0006t0004g0134 a0003c0006t0004g0135 a0003c0006t0004g0137 a0003c0006t0004g0138 a0003c0006t0004g0139 a0003c0006t0004g0140 a0003c0006t0004g0141 a0003c0006t0004g0142 a0003c0006t0004g0143 a0003c0006t0018g0136 a0003c0013t0004g0160	52	384	0.1354	0	c.626 others(5): Show c.626-7G>A		ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	6/12					chr10	TogoVar
ACBD7_chr10_15070475_15093776	15078920	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02559.hp2 HG03516.hp2 others(1): Show HG02145.hp2 HG02559.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035	a0001c0001t0001g0203 a0001c0001t0028g0202 a0001c0001t0029g0093 others(1): Show a0001c0001t0001g0203 a0001c0001t0028g0202 a0001c0001t0029g0093 a0001c0001t0035g0100	4	426	0.0094	0	c.130 others(5): Show c.130+3A>G		ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding	2/3					chr10	TogoVar
ACBD7_chr10_15070475_15093776	15079046	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0070 a0001c0001t0061g0070	1	426	0.0024	0	c.13- others(4): Show c.13-6C>A		ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding	1/3					chr10	TogoVar
ACCSL_chr11_44042981_44064977	44051650	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02074.hp2 HG02080.hp2 HG04204.hp2 others(13): Show HG02074.hp2 HG02080.hp2 HG04204.hp2 NA18945.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18985.hp2 NA19005.hp1 NA19011.hp2 NA19062.hp2 NA19084.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0001 a0003c0003t0001 a0001c0005t0001 a0003c0003t0001	a0001c0005t0001g0114 a0001c0005t0001g0135 a0003c0003t0001g0012 others(7): Show a0001c0005t0001g0114 a0001c0005t0001g0135 a0003c0003t0001g0012 a0003c0003t0001g0036 a0003c0003t0001g0054 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0143	16	446	0.0359	0	c.706 others(5): Show c.706-3C>T		ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	4/13					chr11	TogoVar
ACCSL_chr11_44042981_44064977	44058546	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0062 a0007c0014t0001g0062	1	446	0.0022	0	c.147 others(4): Show c.1471T>G	p.Tyr others(6): Show p.Tyr491Asp	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	13/14	1527/1820	1471/1707	491/568		chr11	TogoVar
ACCS_chr11_44061270_44089237	44074688	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0017 a0002c0003 others(12): Show a0001c0001 a0001c0017 a0002c0003 a0002c0004 a0002c0018 a0003c0002 a0003c0008 a0004c0005 a0006c0007 a0008c0011 a0010c0016 a0011c0014 a0012c0015 a0013c0013 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0017t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0004t0010 a0002c0018t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0011 a0003c0008t0001 a0003c0008t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0006c0007t0001 a0008c0011t0001 a0010c0016t0001 a0011c0014t0001 a0012c0015t0001 a0013c0013t0001 a0014c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(238): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0002g0014 a0001c0001t0002g0156 a0001c0001t0003g0016 a0001c0001t0003g0279 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0036 a0001c0001t0004g0087 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0171 a0001c0001t0005g0062 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0009g0133 a0001c0001t0012g0174 a0001c0017t0005g0176 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0020 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0039 a0002c0003t0001g0045 a0002c0003t0001g0061 a0002c0003t0001g0067 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0135 a0002c0003t0001g0139 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0162 a0002c0003t0001g0164 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0187 a0002c0003t0001g0226 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0278 a0002c0003t0002g0007 a0002c0003t0002g0011 a0002c0003t0008g0007 a0002c0003t0008g0181 a0002c0004t0001g0027 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0057 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0072 a0002c0004t0001g0075 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0080 a0002c0004t0001g0081 a0002c0004t0001g0082 a0002c0004t0001g0083 a0002c0004t0001g0089 a0002c0004t0001g0104 a0002c0004t0001g0106 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0152 a0002c0004t0001g0157 a0002c0004t0001g0158 a0002c0004t0001g0175 a0002c0004t0001g0186 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0192 a0002c0004t0001g0237 a0002c0004t0001g0244 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0266 a0002c0004t0001g0274 a0002c0004t0002g0183 a0002c0004t0007g0136 a0002c0004t0010g0079 a0002c0018t0001g0179 a0003c0002t0001g0008 a0003c0002t0001g0032 a0003c0002t0001g0035 a0003c0002t0001g0051 a0003c0002t0001g0053 a0003c0002t0001g0071 a0003c0002t0001g0092 a0003c0002t0001g0098 a0003c0002t0001g0103 a0003c0002t0001g0198 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0211 a0003c0002t0001g0218 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0002g0003 a0003c0002t0002g0008 a0003c0002t0002g0012 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0053 a0003c0002t0002g0054 a0003c0002t0002g0194 a0003c0002t0002g0212 a0003c0002t0002g0213 a0003c0002t0002g0214 a0003c0002t0002g0215 a0003c0002t0002g0216 a0003c0002t0002g0217 a0003c0002t0002g0222 a0003c0002t0002g0223 a0003c0002t0002g0224 a0003c0002t0002g0225 a0003c0002t0002g0228 a0003c0002t0002g0229 a0003c0002t0002g0230 a0003c0002t0002g0231 a0003c0002t0002g0234 a0003c0002t0002g0277 a0003c0002t0003g0280 a0003c0002t0003g0281 a0003c0002t0003g0293 a0003c0002t0007g0094 a0003c0002t0007g0095 a0003c0002t0011g0227 a0003c0008t0001g0055 a0003c0008t0002g0210 a0004c0005t0001g0052 a0004c0005t0001g0197 a0004c0005t0001g0203 a0004c0005t0001g0209 a0004c0005t0001g0270 a0004c0005t0002g0220 a0004c0005t0002g0221 a0004c0005t0002g0233 a0004c0005t0002g0235 a0004c0005t0003g0282 a0004c0005t0003g0283 a0006c0007t0001g0085 a0006c0007t0001g0086 a0006c0007t0001g0088 a0006c0007t0001g0109 a0008c0011t0001g0022 a0010c0016t0001g0161 a0011c0014t0001g0121 a0012c0015t0001g0151 a0013c0013t0001g0119 a0014c0012t0001g0232	353	438	0.8059	0	c.489 others(5): Show c.489+7G>A		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14					chr11	TogoVar
ACD_chr16_67652512_67665260	67659534	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01109.hp2 HG01433.hp1 others(44): Show HG00738.hp1 HG01109.hp2 HG01433.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0003t0001g0007 a0001c0010t0001g0024 a0003c0004t0001g0023	47	268	0.1754	0	c.413 others(5): Show c.413+3A>G		ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	4/11					chr16	TogoVar
ACE2_chrX_15556033_15605960	15567828	T T	TG TG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0086 a0003c0005t0003g0086	1	264	0.0038	1	c.189 others(7): Show c.1897-3dupC		ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	14/17					chrX	TogoVar
ACE2_chrX_15556033_15605960	15571615	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0042 a0001c0006t0001g0042	1	264	0.0038	-1	c.183 others(7): Show c.1837+8delC		ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	13/17					chrX	TogoVar
ACE2_chrX_15556033_15605960	15571802	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01952.hp1 HG01993.hp2 others(11): Show HG00738.hp1 HG01952.hp1 HG01993.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 NA18954.hp2 NA18959.hp1 NA18972.hp1 NA18972.hp2 NA18994.hp1 NA18995.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0076 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0076 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0135	14	264	0.0530	-1	c.166 others(7): Show c.1665-7delT		ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	12/17					chrX	TogoVar
ACE2_chrX_15556033_15605960	15592225	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(90): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01496.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19009.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0003c0005t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0002t0001g0073 a0001c0002t0001g0074 a0002c0004t0001g0088 a0003c0005t0003g0086	93	264	0.3523	0	c.439 others(5): Show c.439+4G>A		ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	3/17					chrX	TogoVar
ACE2_chrX_15556033_15605960	15592329	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	264	0.0038	0	c.346 others(5): Show c.346-7T>A		ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	2/17					chrX	TogoVar
ACER1_chr19_6301142_6338612	6309841	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	396	0.0025	0	c.351 others(5): Show c.351-7T>A		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	3/5					chr19	TogoVar
ACER1_chr19_6301142_6338612	6312298	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	396	0.0025	0	c.209 others(5): Show c.209-8C>T		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	2/5					chr19	TogoVar
ACER1_chr19_6301142_6338612	6333451	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG01884.hp2 HG02004.hp2 others(12): Show HG00733.hp2 HG01884.hp2 HG02004.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG03471.hp2 NA19030.hp2 NA19043.hp2 NA19074.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 others(12): Show a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0005g0343 a0001c0008t0001g0345 a0002c0002t0001g0339 a0002c0002t0001g0352	15	396	0.0379	0	c.93+ others(4): Show c.93+8C>T		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5					chr19	TogoVar
ACE_chr17_63472061_63503373	63478106	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG03098.hp2 HG03516.hp2 HG01884.hp2 HG03098.hp2 HG03516.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0020 a0009c0019t0001g0043 a0009c0019t0001g0020 a0009c0019t0001g0043	3	374	0.0080	0	c.417 others(5): Show c.417+8G>A		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	2/24					chr17	TogoVar
ACE_chr17_63472061_63503373	63480329	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0068 a0001c0017t0002g0068	1	374	0.0027	0	c.656 others(5): Show c.656-8G>A		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	4/24					chr17	TogoVar
ACE_chr17_63472061_63503373	63482458	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01934.hp1 HG02970.hp1 HG03453.hp2 HG01934.hp1 HG02970.hp1 HG03453.hp2	a0001 a0014 a0001 a0014	a0001c0024 a0014c0029 a0001c0024 a0014c0029	a0001c0024t0003 a0014c0029t0001 a0001c0024t0003 a0014c0029t0001	a0001c0024t0003g0046 a0014c0029t0001g0148 a0014c0029t0001g0149 a0001c0024t0003g0046 a0014c0029t0001g0148 a0014c0029t0001g0149	3	374	0.0080	0	c.111 others(6): Show c.1119-8C>T		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/24					chr17	TogoVar
ACE_chr17_63472061_63503373	63482466	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02027.hp1 NA18978.hp2 HG02027.hp1 NA18978.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0002 a0011c0027t0002	a0011c0027t0002g0002 a0011c0027t0002g0002	2	374	0.0054	0	c.111 others(4): Show c.1119G>T	p.Arg others(6): Show p.Arg373Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1153/4962	1119/3921	373/1306		chr17	TogoVar
ACE_chr17_63472061_63503373	63482688	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01934.hp1 HG02970.hp1 HG01934.hp1 HG02970.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0148 a0014c0029t0001g0149 a0014c0029t0001g0148 a0014c0029t0001g0149	2	374	0.0054	0	c.134 others(4): Show c.1341G>C	p.Thr others(6): Show p.Thr447Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1375/4962	1341/3921	447/1306		chr17	TogoVar
ACE_chr17_63472061_63503373	63494475	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02572.hp2 HG02622.hp1 others(9): Show HG01884.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1	a0004 a0006 a0008 others(1): Show a0004 a0006 a0008 a0022	a0004c0009 a0006c0011 a0008c0014 others(1): Show a0004c0009 a0006c0011 a0008c0014 a0022c0036	a0004c0009t0003 a0006c0011t0007 a0006c0011t0008 others(3): Show a0004c0009t0003 a0006c0011t0007 a0006c0011t0008 a0008c0014t0001 a0008c0014t0009 a0022c0036t0008	a0004c0009t0003g0012 a0004c0009t0003g0139 a0006c0011t0007g0037 others(4): Show a0004c0009t0003g0012 a0004c0009t0003g0139 a0006c0011t0007g0037 a0006c0011t0008g0152 a0008c0014t0001g0064 a0008c0014t0009g0025 a0022c0036t0008g0060	12	374	0.0321	0	c.338 others(6): Show c.3380+5C>T		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	22/24					chr17	TogoVar
ACE_chr17_63472061_63503373	63496988	A A	AC AC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 NA19077.hp2 NA19078.hp1 HG00735.hp1 NA19077.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0002t0002g0126 a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0002t0002g0126	3	374	0.0080	1	c.369 others(7): Show c.3691+5dupC		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/24				INFO_REALIGN_3_PRIME	chr17	TogoVar
ACE_chr17_63472061_63503373	63496990	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG03209.hp1 HG03209.hp2 others(2): Show HG00733.hp1 HG03209.hp1 HG03209.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0038 a0001c0044 others(2): Show a0001c0006 a0001c0038 a0001c0044 a0001c0045 a0001c0054	a0001c0006t0001 a0001c0038t0001 a0001c0044t0001 others(2): Show a0001c0006t0001 a0001c0038t0001 a0001c0044t0001 a0001c0045t0001 a0001c0054t0001	a0001c0006t0001g0055 a0001c0038t0001g0061 a0001c0044t0001g0024 others(2): Show a0001c0006t0001g0055 a0001c0038t0001g0061 a0001c0044t0001g0024 a0001c0045t0001g0024 a0001c0054t0001g0150	5	374	0.0134	0	c.369 others(6): Show c.3691+5C>T		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/24					chr17	TogoVar
ACE_chr17_63472061_63503373	63497131	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19083.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0015 a0017 a0018 a0022 a0023 a0025	a0001c0001 a0001c0002 a0001c0005 others(31): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0018 a0001c0024 a0001c0030 a0001c0035 a0001c0039 a0001c0050 a0001c0051 a0001c0055 a0001c0065 a0002c0003 a0002c0037 a0002c0059 a0004c0009 a0005c0012 a0005c0020 a0006c0011 a0007c0061 a0007c0062 a0008c0014 a0009c0019 a0010c0023 a0013c0021 a0015c0053 a0017c0047 a0018c0049 a0022c0036 a0023c0046 a0025c0063	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(36): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0018t0001 a0001c0024t0003 a0001c0030t0001 a0001c0035t0001 a0001c0039t0001 a0001c0050t0001 a0001c0051t0001 a0001c0055t0001 a0001c0065t0011 a0002c0003t0003 a0002c0037t0003 a0002c0059t0003 a0004c0009t0003 a0005c0012t0001 a0005c0020t0001 a0006c0011t0007 a0006c0011t0008 a0006c0011t0012 a0007c0061t0001 a0007c0062t0001 a0008c0014t0001 a0008c0014t0009 a0009c0019t0001 a0010c0023t0001 a0013c0021t0010 a0015c0053t0001 a0017c0047t0001 a0018c0049t0001 a0022c0036t0008 a0023c0046t0001 a0025c0063t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0006g0028 a0001c0001t0006g0090 a0001c0001t0013g0001 a0001c0002t0001g0127 a0001c0005t0001g0154 a0001c0006t0001g0001 a0001c0006t0001g0049 a0001c0006t0001g0050 a0001c0006t0001g0058 a0001c0006t0001g0076 a0001c0006t0001g0117 a0001c0008t0001g0019 a0001c0008t0001g0103 a0001c0010t0001g0021 a0001c0010t0001g0048 a0001c0010t0001g0052 a0001c0018t0001g0001 a0001c0018t0001g0153 a0001c0024t0003g0046 a0001c0024t0003g0140 a0001c0030t0001g0039 a0001c0035t0001g0047 a0001c0039t0001g0125 a0001c0050t0001g0078 a0001c0051t0001g0001 a0001c0055t0001g0102 a0001c0065t0011g0133 a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0044 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0157 a0002c0037t0003g0135 a0002c0059t0003g0155 a0004c0009t0003g0012 a0004c0009t0003g0139 a0005c0012t0001g0010 a0005c0012t0001g0051 a0005c0020t0001g0010 a0006c0011t0007g0037 a0006c0011t0008g0152 a0006c0011t0012g0147 a0007c0061t0001g0130 a0007c0062t0001g0040 a0008c0014t0001g0064 a0008c0014t0009g0025 a0009c0019t0001g0020 a0009c0019t0001g0043 a0010c0023t0001g0023 a0013c0021t0010g0001 a0015c0053t0001g0001 a0017c0047t0001g0118 a0018c0049t0001g0096 a0022c0036t0008g0060 a0023c0046t0001g0119 a0025c0063t0001g0040	205	374	0.5481	0	c.369 others(6): Show c.3692-6G>A		ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/24					chr17	TogoVar
ACIN1_chr14_23053564_23100136	23061189	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02486.hp1 HG02723.hp2 others(7): Show HG02145.hp2 HG02486.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03579.hp1 HG06807.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0007 a0005c0005t0002 a0005c0005t0007	a0005c0005t0002g0199 a0005c0005t0002g0200 a0005c0005t0002g0201 others(7): Show a0005c0005t0002g0199 a0005c0005t0002g0200 a0005c0005t0002g0201 a0005c0005t0002g0203 a0005c0005t0002g0204 a0005c0005t0002g0205 a0005c0005t0002g0206 a0005c0005t0002g0207 a0005c0005t0002g0208 a0005c0005t0007g0202	10	350	0.0286	0	c.342 others(6): Show c.3425-5C>T		ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	17/18					chr14	TogoVar
ACLY_chr17_41861918_41923951	41873808	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02523.hp2 NA19060.hp1 NA19090.hp2 HG02523.hp2 NA19060.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0001g0047 a0001c0001t0002g0039 a0001c0001t0002g0040	3	294	0.0102	0	c.264 others(6): Show c.2642+3G>A		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	23/28					chr17	TogoVar

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