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
ALDH2_chr12_111761933_111822532	111792790	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0078 a0001c0001t0099g0078	1	342	0.0029	0	c.108 others(6): Show c.1083+8A>T		ALDH2	ENSG00000111275.13	transcript	ENST00000261733.7	protein_coding	9/12					chr12	TogoVar
ALDH3A2_chr17_19643751_19682596	19652541	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG01516.hp1 HG01517.hp1 others(12): Show HG00642.hp1 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0003t0004 a0001c0005t0019 a0001c0001t0004 a0001c0003t0004 a0001c0005t0019	a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0045 others(9): Show a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0003t0004g0024 a0001c0005t0019g0046	15	366	0.0410	0	c.386 others(5): Show c.386-6A>G		ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding	2/9					chr17	TogoVar
ALDH3A2_chr17_19643751_19682596	19675560	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0003t0004 a0001c0005t0019 a0002c0006t0020 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0035 a0001c0001t0003g0055 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0005g0001 a0001c0001t0006g0006 a0001c0001t0006g0091 a0001c0001t0008g0025 a0001c0001t0008g0062 a0001c0001t0009g0082 a0001c0001t0009g0086 a0001c0001t0010g0028 a0001c0001t0011g0011 a0001c0001t0012g0035 a0001c0001t0013g0018 a0001c0001t0014g0126 a0001c0001t0015g0002 a0001c0001t0018g0146 a0001c0003t0004g0024 a0001c0005t0019g0046 a0002c0006t0020g0130 a0003c0004t0001g0160	291	366	0.7951	0	c.144 others(4): Show c.1446A>T	p.Ala others(6): Show p.Ala482Ala	ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding	10/10	1667/3703	1446/1458	482/485		chr17	TogoVar
ALDH3B1_chr11_68005327_68034276	68010396	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0046 a0001c0005t0001g0046	1	374	0.0027	0	c.-2+ others(4): Show c.-2+4G>C		ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding	1/9					chr11	TogoVar
ALDH3B1_chr11_68005327_68034276	68018644	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG02040.hp2 HG02080.hp1 others(10): Show HG00438.hp2 HG02040.hp2 HG02080.hp1 NA18939.hp1 NA18951.hp2 NA18965.hp2 NA18980.hp1 NA18981.hp1 NA18990.hp2 NA19056.hp2 NA19067.hp2 NA19077.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0006 a0001c0003t0005g0006 a0001c0003t0005g0106 others(2): Show a0001c0003t0002g0006 a0001c0003t0005g0006 a0001c0003t0005g0106 a0001c0003t0005g0107 a0001c0003t0005g0118	13	374	0.0348	0	c.273 others(5): Show c.273+7C>T		ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding	3/9					chr11	TogoVar
ALDH3B1_chr11_68005327_68034276	68019258	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	374	0.0027	0	c.480 others(5): Show c.480+3G>A		ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding	5/9					chr11	TogoVar
ALDH3B1_chr11_68005327_68034276	68019804	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	374	0.0027	0	c.562 others(5): Show c.562+8C>T		ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding	6/9					chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67665677	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	390	0.0026	0	c.320 others(5): Show c.320-6G>A		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	6/9					chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67667022	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02257.hp2 HG02809.hp2 HG02145.hp2 HG02257.hp2 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0201 a0004c0004t0003g0202 a0004c0004t0003g0203 a0004c0004t0003g0201 a0004c0004t0003g0202 a0004c0004t0003g0203	3	390	0.0077	0	c.-81 others(5): Show c.-81-6C>T		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	2/9					chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67667465	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(153): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0015 others(1): Show a0001 a0009 a0015 a0016	a0001c0001 a0001c0022 a0001c0024 others(3): Show a0001c0001 a0001c0022 a0001c0024 a0009c0010 a0015c0023 a0016c0021	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0022t0001 a0001c0024t0001 a0009c0010t0001 a0015c0023t0001 a0016c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0007g0043 a0001c0001t0015g0135 a0001c0022t0001g0142 a0001c0024t0001g0153 a0009c0010t0001g0026 a0015c0023t0001g0162 a0016c0021t0001g0149	156	390	0.4000	0	c.-82 others(5): Show c.-82+8G>A		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	2/9					chr11	TogoVar
ALDH5A1_chr6_24489969_24542207	24504864	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01943.hp2 HG02258.hp2 others(9): Show HG01109.hp1 HG01943.hp2 HG02258.hp2 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA19030.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0017 a0002c0002 a0013c0017	a0002c0002t0002 a0002c0002t0005 a0002c0002t0018 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0018 a0002c0002t0020 a0013c0017t0017	a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 others(9): Show a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0005g0059 a0002c0002t0005g0060 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0067 a0002c0002t0018g0070 a0002c0002t0020g0066 a0013c0017t0017g0117	12	368	0.0326	0	c.610 others(5): Show c.610-5C>T		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	3/9					chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24504988	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG01346.hp2 HG00140.hp2 HG01346.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0012 a0009c0012t0012 a0002c0002t0012 a0009c0012t0012	a0002c0002t0012g0022 a0009c0012t0012g0021 a0002c0002t0012g0022 a0009c0012t0012g0021	2	368	0.0054	0	c.726 others(5): Show c.726+3G>A		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9					chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24504993	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(59): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18954.hp1 NA18979.hp1 NA18987.hp2 NA18994.hp2 NA18997.hp2 NA19030.hp2 NA19062.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0002 a0005 a0011 others(1): Show a0002 a0005 a0011 a0013	a0002c0002 a0002c0015 a0005c0007 others(2): Show a0002c0002 a0002c0015 a0005c0007 a0011c0014 a0013c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0015t0013 a0005c0007t0002 a0011c0014t0002 a0013c0017t0017	a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0080 others(57): Show a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0003g0118 a0002c0002t0004g0098 a0002c0002t0004g0108 a0002c0002t0005g0059 a0002c0002t0005g0060 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0067 a0002c0002t0006g0099 a0002c0002t0006g0100 a0002c0002t0006g0101 a0002c0002t0006g0102 a0002c0002t0006g0103 a0002c0002t0009g0104 a0002c0002t0009g0106 a0002c0002t0009g0107 a0002c0002t0018g0070 a0002c0002t0019g0119 a0002c0002t0020g0066 a0002c0015t0013g0110 a0005c0007t0002g0072 a0005c0007t0002g0090 a0011c0014t0002g0105 a0013c0017t0017g0117	62	368	0.1685	0	c.726 others(5): Show c.726+8G>A		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9					chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24532184	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG01070.hp2 HG01071.hp2 others(7): Show HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01346.hp2 HG01358.hp1 HG01993.hp2 HG02257.hp2 HG02451.hp2 HG03654.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0009 a0001c0016 a0002c0002 others(2): Show a0001c0009 a0001c0016 a0002c0002 a0007c0011 a0009c0012	a0001c0009t0023 a0001c0016t0006 a0002c0002t0006 others(3): Show a0001c0009t0023 a0001c0016t0006 a0002c0002t0006 a0002c0002t0012 a0007c0011t0025 a0009c0012t0012	a0001c0009t0023g0243 a0001c0016t0006g0201 a0002c0002t0006g0099 others(7): Show a0001c0009t0023g0243 a0001c0016t0006g0201 a0002c0002t0006g0099 a0002c0002t0006g0100 a0002c0002t0006g0101 a0002c0002t0006g0102 a0002c0002t0006g0103 a0002c0002t0012g0022 a0007c0011t0025g0257 a0009c0012t0012g0021	10	368	0.0272	0	c.140 others(6): Show c.1402+7G>A		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	9/9					chr6	TogoVar
ALDH6A1_chr14_74051847_74089453	74053659	GGCCTCCC others(9771): Show GGCCTCCCAAAGCTCCAGGATTACAGGTGTGAGCCACCGCACCTGGCCAA AACCTAAACTTTTTTTTTTTTTTGAGAGAGTCTCACTCTGTCGCCCAGGC TGGAGTGCAATGATGCCATCTTGGCTCACTGCAACCTCCACCTCCCGGGT TTAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGTGC ATGCCACCACGTCTGGCTGATTTTCTTTTTTTTGAGACAGAGTCTTCGCT CTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGAT CTGCCTCCAGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAATAGCTG GGACTACAGGCTCCTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTTA GTAGAGACAGAGTTTCACCATGTTAGCCAGGGTAGTCTTGATCTCCTGAC CTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTAGTATTACAGGTGTG AACCACTGCGCGCAGCCTAATTTTCGTATTTTTAGTAGAGACAGCGTTTC ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGAACCACCCAC CTTGGCCTCCCAAATTACTGGGATTACGGGTGTGAGCCACCGCACCTGGC CTAAACAACTTTTTTTTTCTTGTTCCCTTTGTCTGTGTCTCTAAATAAAT AATGTTACATTACAGTTTTTTTTGTTGTTTTTTTTTTTGAGTCGGAGTCT CGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCA ACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTA GCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCACCATTTTGGTCAGGCTGATCTCGAACTCCTGA CCTTGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGTGT GAGCCACCGCACCCAGGCTCTTTTTTTTTTTTTTTTTGAGAAGGAGTCTT GCTTTGTCACCCAGTCTGGAATGCAGTGGAGTGATCTCGGCTCACTGCAA CCTCCCATCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCTGAGTA GCTGGGATTAGAGGAGCCTGCCACCATGCCCAGCTAATTTTTGTATATTT AGTAGAGACGGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTAA CCTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGTAAGCCACCGTC CCCAGCCTCCTTAGAGTTTTCTACTTTGCTTATTTCCTTAATGTCTGAGC ACAAATATTTTTTCATGTTGTTAAAGTTTTTGTCATTTTCATCTTTATGA TATGTAACATTTCGGATTGGCTAGTATATTGTTGTCCTTATCAACTTTAT GATTTTGTGATGGATAGTTTGCTTTGTAGTTTTCTTTTTTTCTTTCTTTT TTTTTTTGAGACGGAGTTTCACTCTTTTCTCCCAGGCTGGAGCACAGTGG CGCGATCTCAGCTTACTGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACAGCTGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCATCACATTGTCCA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTAGTTGTT TCATAATATTCAATTATGGTGTGGAATTTATCCTATGTTTACCCATTATA TATTTTTTAAAAAGAAGAGAAGCCTATTTGACCGTATTTTTCCTTTTCAC ATTTTTTTCCTTTGAAATTCTTTAGGACACATATTGAAGGAAATGTGGAT ATTGGAGATTTGACCTGGGAGCAGAAGGAAAAAGTATTGCGATTGCTCTT TGCAAAAATGAATGGCTGTCCTTCTAGGTAACTCCCTATTTCTGCAGTGA AATACCAAGTTGTTATCAAATCTAGAAACCACTTAGGAACAAAGAACTTA TTTTTCTTACTTAGAACTAAAGGGACGGGAAAGGACCAGAAAATATAAAA AGGCCCTACTGCTTAACTACTGCAGCTCCCAGAGATAAAGAATGGGAGAT TAATGAATGAGCATGAAAATGAAAGATGAGTTGGAATTAAAGGGGGAGGG GAAAGATTCATCTTAGATGTTTAAGGTAGTGCTTATTAAGAAGTTACAAT ATTGCTCAGCTGAATGAGTGGCAACTGAAGAGAAACATAACAATATTAAG ATTTTATTGGTTTGCAAAGATAAGTATTTTTTTTTTTTTTTGAGATGGGG TCTCACTCTGTCACCCAGGCCAGAGTGCAGTGGCACAATCACAGCTCACT ATAACCTCCACTTCCCAGGTGCAAGTGATCCTCCCACCTCAGCCTACTGA GTAGCTGGGACTACAGGCATGTGCCACAACGCCCGGCTAATTTTTTTTTT TTTTTTTTTTGAGAAGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGT GATGTAATCTCGGCTCACTGCAACCTCTGCCTCCTGGTTCAAGTGATTCT CGTGCTTCAGCCTCCCGAGTAGCTAGGATTACAGGGGCCACCACCATGCC TGGCTAATTTTTGTATTTTTTTGTAGAGATGGAGTTTTACCATGTTATCC AGGCTGGTCTCGAACTCCTGACCTGAGGTGACCTGCCCGCCTCAGCCTCC TAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCGGCCCTAATTTTG TATTTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACAAA CTCCTGACCTCAGATGATCCACTCACCTCGGCTTCCCAAAGTGCTGGGAT TACAGGCATGAGCCACTGCCCCTGGCCAGTTATACATTTTAAAATAACTA AAAGAGTGTAATTGGATTGTAACACAAGGGATAAATACTTGAAGGGATGG ATACTTCATTCTCTATGATGTGATTATTTCACATTGCATGCCTGTATCAA AACATCTCACGTACCCCACAAATACGTATACCTACTATCACCCACAAAAA TAAAAAATAAAAAAAAATTAAAATACAAAAAGAAAATATGAAGGCATGAG GAGACACTGCCTCATTCATTATCTTTGTTGACTTTTACCCACTACAGGAA ATACAACCAGAGTTCTAGGCCTCCAGTTCCAGACTATGTTGTTTCTGACA GTGGGGAAACAAAGGAATTTGGGTAAGAGCTCTCTTGCTTAAGTAATAAA CATGAGCCCAACACGATGGTTCTTGTGGGCATCTTGAATGTGCTAATTGA AAGTAATATGACAAGTCTGTTATTCTAAACCAGGTTTCATGTGTGTAGAG TTGTTGACGGTTCTGTTATTTTGTCATTATTGCAGGGATGAAAGTAAGCT TCAAGATAAAATCTTCATCACCCAGCAAATTGCAATATCAGACTCTTCTG GTGAAGTGGTGCTACCCACTATTCCAAAAGAACCTCAGGAGTCTGACACA GTAAGGAGTCTGTATCTAATCAAACAATGTATATTGTTGTCACCCTTCCC CATGTCGCTTCTTGCTAAATCACGGTTATTTTCTCTACTAGTTGAGAGAC TTCAGGGATCAGTGGAATGAGTAATAAATAGCATTAGTAGATTACATAAA TTTTTAAAGCAATATCCGTACAAATGCATATTATACTAATGCAAATGCAA ATGTGTGCCTCTTTTTGTGTAGAAACCTATAGGTTGCCTTTTGAAGTAAA CAGCCTAGCCAAAATGTGTACTATCTTTTACGTAAGAGTAAACATAGTGA CCTTGTGACTCTTAGCTTTCCATCACAGGTGGGAAGTCAGAGTCATTACA ACCTAGAGGACAAAGGCTTATAAGGAGATATGAAATGATTTTTTTAAGCC AAGTTTTTCTCTTTAAGAGTTTTTAATTTATAATTTGTTATTCATAATTA GTACAATGTAGAATCTGAGAAATTTCAAATGAAGCCACATTAGAACAAAA AGAAAATACTGACTTTTTAGCCGCGATCACATGAATATAACTGATGAGTT TTTTTCATCTAAGAAATAAGAAACTCTGAGCAGCAAATAGTTGGCCAGAT GAGTTGTTTCTAATTAGAGCATCACAGTTCTGATTAGTGTGTTTTTTTAG AAGTGATTTCCCTTAAATATAAGGAAAATGTTAGGAATCTCTGTGACTAC ATTTAATTCCACTTGGAATATAGACAATAATGACCTTTTATTTAACCCAG CCTATAGTTGTTGGATTGGATTAAATATCACTACCAGGGCCAGGTGCGGT GGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA TTAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCT CTACTAAAAGTACAAAAAATTATCCGGGTGTGGGGGCATGCACCTGTAAT CCCAGCTACTCGGGAGACTGAGGCAGGAGAATTACTTGAACCCAGGAGGT GGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCACCCTGGGCAAC AGAGCGAGACTCCATCTCAAAACAAAACAAAACAACAACAAAAAAAATCA CTACCAGTTGCCAGCTGTGATAAGAGCTAAAACAAGGGGTACTGTAGTCT CAAATTATAAATTTCTATTGCCTCATATTTAGGAAAGCAGAAAAAAAAAA AAAAAAGGCCCAGTAGGATCATAAGTGTATTTTACAAAAGTTCCAGTCAC CTTAAGTGATTGAAGGTTTTGACATTTTATCCAGCCAGGTGGTAGTAATA AGCCTCAAATCCACAGGGTACACAACATTTTCAAGGTCTTTTTTTTTTTT ATCATACTTAATTCATGAATAACCCCCATAGTGTAGGTTAGTTAGCACTA TCAAAGTGACTGGTAAGGACGCAGGAAAATAAAAAGAGGATTCAATTGGA TTGGTACTGCAAAAAGAATCCATTCTGTTCAGCACATGAATTTCTGTTCT GACCTTAAGTTTAGATATATCAAAGAAACAAAAAGCATAGAGGCGGCTGG GGGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGG CAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAA ACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGTATGC CTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCC GGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCTAGCCT GGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGC GTAAAGGCAGTTGAACTAATGGCAGAAGAAGACTGTCAAAGCATTTTTTT TTAACCACTTTATGTCATGGAAAGCTTCGAAATTTCTTAGGCCCAGTTAA TTGCTCTACATGAAGAGTTCTTCATTAAACAAATCACTAATTAGAAATAC AGGCAAGAGAAAAGAATATATAAAATTTGGCAAGTAATAGCAGGTTAGAT TTGCTTAAGGCAGGTGTCTTACCCATTTTCATGGTTGGAACAATCCTTGA TTTCTGGGCCTAAAATAACTTTTGAAATAATTTTCTAAGAAAATTATTTG CATCTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACC AACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTG GTGGCGCATGCCTGTAATCCCAGCTACTAGGGGGGCTGAGGCAGGAGAAT CGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATCACGCCATTG CACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAGAAAA AAGAAAATTATTTGCATCTGAATTAATGGCTGAAGTATTAATTAATGATT GCTGAAGAGAACCCTGAAACTTAGTACTTGGCACATATAACAAAAAGTTG ATTTATCCATTGCTTACTGAGGTATCCTTGAGAAGTGATCTTAAGCAGGA GCAGTGACAATGATAGAATTAATAGTGGTCATGAATTACTAGGAAACAAA GTGGCATTGAGCAGAAAAGAAAGAAGCTGTTGCCACAACTTTGGGATATA TAAAAATGGATTATATCTTGTGTATTGTGGGATAAAAGAGGGGCTAAAGA AAACTTTGCAGGAGGTCTCTCCCAGTGGCATTTAGGTAGCGCTATGTTTG AGGATCAACCAAAAGCGGTGAGTTATTTCTGTCCTGTTTCCCCATCTAAG AGTTCTTCTTGCAATTATTGGAACATCTTCTTTAAAAAATTTTTTTTCCC TTTTCTTTTTTTACTTTTTCAATTTTTTTAAATAATAGATACGGGGTTTC GCCACGTTCTTCAACTCCTGGGCTCAAGCAATCTGCCCACTGTGGCCTCC CAAAATGATGGAATTACAGGCGTGAGCCACCGCGCCTGGCTGGAACATTT TCTTTACATACACTGGCTTTTCTCCCCTTCAAATCATCAGAAAATGGGAT AATTTTTAGAAATCAGGTTTAAGCACTACTTTCAGATAAGCATTTCATAG TTACAACAGTTACCTCAAAATAGAAGTATGAAGAGCAAGTGAGAAATCTG GTTTCATTGTTACACTAGGCAGTTCCCTATAGAAACTTTGCGGGGGTTAA TAGTCCTGAGGAAGATTTTAGTTACAATGTATTCCAATCCCATCGATCTG ATCTGAGCAAAGCTGACAAATGAAGCTGGTCAAAAATAAAGGGAGATTAC TCAGGATGGAGTCAGTCTTAAACAAACTTGTTTCTAACGGCCCATGGTAG GCATGACAACAGCAGGTGAGGAAAGAGTAGCATCTTCTTCTTTCCACTGA GAAGTAATGGTCTTTAACTGAGTGTAGAATTGGATGCCCTAAGGAAAACA GAAAAAAAGTTAGCATATATTTCTGGGGTTTCATGATTCTTCTTTTAATT AGCTTTTGAAGGAGGTATTATAAAGTGCTACTCACTTTCCTAATTGAGAA ATGCAATCAGAATCCAATATATATTGTTCCTAAGATAATTGATCTAAAAC ATTTAACATAATACCTGGCAGATAGTAAACAATCAAACCTTAGCCATCAT TATTATGCTGAAACTAGTATTTCTTTCTTTTTTGTTTGAGATGGAGTCTT GCTCTGTCACTTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCAGCTCTCCTGCCTCAGCCTCTCGAGTAG CTGGGATTACAGGCACCTGCTACCACGCCTGGCTAATTTTTGTATTTTTA GTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGGC CTCAAGTGATCCGCCTTCCTCGGCCTCTCAAAGTGCTGGAATTACAAGTG TGAGCCACCGTGCCCCCAGCTATTATATAGTAGGCCATTTATTTATTTAT TTATTTATTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAG TGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCATGTGATT CTCCTGCCTCAGCCTTCTGAATAGCTGGGATTACAAGTGTGTGCCACCAT GCCCAGCTATTTTTGTATTTTTAGTAGAGAAGGGCTAATTTCAGATTAGC CCATGTTGGCTAGCACCATGTTGGCCAAGCTGGTCTTGAACCCCTGACCT CAGGTGATCCGCCAGTCTTGGTCTCCCAAAGTTCTGGGATCACAGGCATG AGCCACTGTACCCAGCGGCCATTTCTGATAATTATCAGAGATCATGAGCT CTATATTGAAGTGGCAAACCCAAAGTATCTTAGAAATCTAAAGTAAAATG TCTGACATTATACAAATTCACTTCTCAATTACCTATAACATGTGAGCCCA AAAATTCAGCATATTTAACTCTCTCTATATATAGATATAGTTTATAAGAG TAGGCTTGAGCAAAAGAGAATACATTGTGCAGATCTAACACTTATATAAT TACTAGCAAGCTAGAATGACATTTTACCAGATTACCAGAGTAATTTATAA TAATTAAACTGGGGGGTGCAGCCAGGAGCGGTGGCTCACACTTGTAATAT CAGCACTTTGGGAGGCTGAGGTAGGCGGATCACTTGAGGCCATGAGCTCA AGACCAGCCTGGCCCAACATGGCGAAACCTCGTCTCTACTGGGAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGCTGGGCGTGGTGGAGCCTGAGGCAGAA TTGCTTGAACCTGGGAGGTGGAGGTTGCAAGTGAGCCGAGAATGCACCAT TGCACTCCAGCCTGGGCAACAGAGCAAAACTCCCATCTCAAAAAAATAAA TAAATGGAGAGGGTGGGCAGGGAACAATTTTTAAACAATAGTTGTACTCT GTTTTGCTTAAAAGAAATGTTACTAGTATCAAATTAGTCATTTTTACAAA AGCTGTGACTAGGCCGGGTGCGGTGACTCACTCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCAGGCAGATCACCTGAGGTAAGGAGGTCGAGACCAGC CTGGCCAACATGGCGAAACCCCGTCTCTACTACAAATACAAAAATTGGCG GGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCATAGATAC GAGAATTGCTTGAACCCTGGAGGCTGAGGTTGCAGTGAGCCAAGATCATG CCACTATACTCCAGCCTGGGTGACAGAGAAAGATTCCATCAAAAAAACCC CAAAACAAAAAACCAAAAGCTGTGACTAATATACAAACTATATAATCAAC CTCCAAATACCAAAGTGTTGACTTCTTAACCATTTGGCCACACTGTCATA ATGCTATGCAATCCCATTGTTAATTTTTTAATAACCCAAACATAAATAAA ATAAAAAAGCCCCACATCCCTCGCCCTGTGGCAGCACATAGCTGGCACAG AAAAAAAAAATCAACCTATAAAAGGGGAGACTTGTATAACAAAACATGTA ATTTATTAATGAAGGTTTCAAAATGGCTCTAGTCCTATGACTAGAAAGAA CTTCCCCTAGCCTATTTGTTCAACAAATGTTTGGGCAGCCTGCTCTGTTC CAGGTACTGCAGATAAGTAGATAACAACTACAGTCTGATGAGGGCTTCTT TAAATGGCTTAAAGAGCCCTACATGACTCAACCCCTGCCTGCCTCTCTAA CTTCATTTCTTCCTTTTCTTCTCATTTGCTCACTGTGCCCCAGCCCATTT CCGCTGTCTGAATGTGCCATGCTTCTTCCTGCCTCGGGACATATGCACCT GTTGGCCGATGTGGCAATAGTAATAATTCTTCTTTTTTTTTTTTTTGAGA TGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGTGCAATCTCGGC TCACTGCAACTTCCGCCTCCCAGATTCAAAGGATTCTTCTGCCTCAGCCT CCCGAGTAGCTGGGATTATAGGCACCTGCCACCACACCTGGCTAATTGTT TTATTTTTAGTAGAGGGGGTTTTGCCATGTTGGCCAGATTGGTCTCAAAC TCCTGACTTCAGGTGATCTGCCTGCCTCA	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02602.hp1 HG02602.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0033 a0000c0008t0033	a0000c0008t0033g0277 a0000c0008t0033g0277	1	402	0.0025	-9778	c.150 others(15): Show c.1503+1385_*6982del		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	12/12					chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74067571	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02257.hp2 HG02486.hp2 others(3): Show HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0047 a0001c0001t0014 a0001c0001t0047	a0001c0001t0014g0028 a0001c0001t0014g0155 a0001c0001t0014g0156 others(2): Show a0001c0001t0014g0028 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0014g0157 a0001c0001t0047g0154	6	402	0.0149	1	c.853 others(6): Show c.853-3dupT		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	7/11					chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74072618	A A	AAAAC AAAAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01884.hp1 HG02630.hp1 others(5): Show HG01081.hp2 HG01884.hp1 HG02630.hp1 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0054 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0054 a0001c0001t0056	a0001c0001t0001g0030 a0001c0001t0021g0031 a0001c0001t0021g0032 others(2): Show a0001c0001t0001g0030 a0001c0001t0021g0031 a0001c0001t0021g0032 a0001c0001t0054g0202 a0001c0001t0056g0183	8	402	0.0199	4	c.112 others(16): Show c.112-11_112-8dupGTTT		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	2/11					chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74072618	AAAAC AAAAC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02145.hp1 HG02451.hp2 others(13): Show HG01884.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG04184.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(7): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0002t0023 a0001c0010t0044	a0001c0001t0004g0294 a0001c0001t0006g0166 a0001c0001t0012g0165 others(12): Show a0001c0001t0004g0294 a0001c0001t0006g0166 a0001c0001t0012g0165 a0001c0001t0024g0037 a0001c0001t0024g0212 a0001c0001t0025g0149 a0001c0001t0025g0150 a0001c0001t0025g0151 a0001c0001t0045g0147 a0001c0001t0046g0146 a0001c0001t0048g0148 a0001c0002t0023g0144 a0001c0002t0023g0152 a0001c0002t0023g0153 a0001c0010t0044g0145	16	402	0.0398	-4	c.112 others(16): Show c.112-11_112-8delGTTT		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	2/11					chr14	TogoVar
ALDH7A1_chr5_126536841_126600219	126552023	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(35): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG01069.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG03654.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18950.hp2 NA18964.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19082.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0011 a0002c0002 a0009c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0025 a0009c0011t0002	a0002c0002t0001g0001 a0002c0002t0001g0186 a0002c0002t0001g0200 others(34): Show a0002c0002t0001g0001 a0002c0002t0001g0186 a0002c0002t0001g0200 a0002c0002t0001g0229 a0002c0002t0001g0257 a0002c0002t0001g0302 a0002c0002t0001g0337 a0002c0002t0001g0354 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0002g0048 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0068 a0002c0002t0002g0077 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0175 a0002c0002t0002g0203 a0002c0002t0002g0237 a0002c0002t0002g0245 a0002c0002t0002g0323 a0002c0002t0003g0061 a0002c0002t0003g0067 a0002c0002t0003g0303 a0002c0002t0003g0313 a0002c0002t0004g0009 a0002c0002t0004g0041 a0002c0002t0004g0076 a0002c0002t0004g0188 a0002c0002t0004g0374 a0002c0002t0006g0113 a0002c0002t0010g0084 a0002c0002t0012g0242 a0002c0002t0025g0256 a0009c0011t0002g0261	38	380	0.1000	0	c.131 others(4): Show c.1315A>C	p.Lys others(6): Show p.Lys439Gln	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	14/18	1336/4765	1315/1620	439/539		chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126559319	TCTGCATC others(18): Show TCTGCATCTTCAAAGGCTTAGGAAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0328 a0008c0009t0002g0328	1	380	0.0026	-25	c.914 others(35): Show c.914-10_928delCTTTCCTAAGCCTTTGAAGATGCAG	p.Ala others(13): Show p.Ala305_Ala309del	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	11/18	949/4765	914/1620	305/539		chr5	TogoVar
ALDH9A1_chr1_165657216_165703562	165665015	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	332	0.0030	0	c.146 others(6): Show c.1462+3G>A		ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	10/10					chr1	TogoVar
ALDOB_chr9_101415560_101440774	101425447	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	418	0.0024	0	c.799 others(5): Show c.799+6G>A		ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	7/8					chr9	TogoVar
ALDOB_chr9_101415560_101440774	101429747	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18944.hp2 NA18959.hp1 others(3): Show NA18939.hp1 NA18944.hp2 NA18959.hp1 NA19007.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	6	418	0.0144	0	c.324 others(5): Show c.324+8C>G		ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	3/8					chr9	TogoVar
ALDOC_chr17_28568120_28581895	28575413	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.112 others(5): Show c.112+8G>A		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/8					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575415	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.112 others(5): Show c.112+6T>A		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/8					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575417	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.112 others(5): Show c.112+4A>G		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/8					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575543	C C	G G	splice_region_variant splice_region_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.-11 others(3): Show c.-11G>C		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575548	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.-12 others(5): Show c.-12-4C>T		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575549	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.-12 others(5): Show c.-12-5T>A		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575551	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.-12 others(5): Show c.-12-7A>T		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8					chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575552	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	0	c.-12 others(5): Show c.-12-8C>G		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8					chr17	TogoVar
ALG10B_chr12_38311774_38334721	38318247	CTTTCATT others(3): Show CTTTCATTTTA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG03041.hp1 HG03195.hp1 others(2): Show HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 NA18522.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0009 a0005c0008t0014g0009	5	452	0.0111	-10	c.172 others(22): Show c.172-13_172-4delTTTCATTTTA		ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	1/2					chr12	TogoVar
ALG11_chr13_52007398_52038600	52028313	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	362	0.0028	0	c.120 others(6): Show c.1208-6T>C		ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/3					chr13	TogoVar
ALG13_chrX_111676170_111765649	111721716	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01109.hp1 HG01243.hp1 others(71): Show HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0017 others(6): Show a0001c0001 a0001c0002 a0001c0017 a0002c0003 a0002c0005 a0002c0009 a0003c0004 a0004c0008 a0004c0010	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0002c0003t0001 a0002c0005t0001 a0002c0009t0001 a0003c0004t0001 a0004c0008t0001 a0004c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(70): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0002t0001g0001 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0185 a0001c0017t0001g0042 a0002c0003t0001g0050 a0002c0003t0001g0065 a0002c0005t0001g0023 a0002c0005t0001g0026 a0002c0005t0001g0077 a0002c0009t0001g0047 a0003c0004t0001g0010 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0069 a0004c0008t0001g0017 a0004c0008t0001g0018 a0004c0010t0001g0046	74	191	0.3874	0	c.143 others(6): Show c.1435+5A>T		ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	12/26					chrX	TogoVar
ALG13_chrX_111676170_111765649	111728181	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	191	0.0052	0	c.224 others(6): Show c.2248-4A>G		ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	18/26					chrX	TogoVar
ALG14_chr1_94969405_95077951	95027258	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0210 a0001c0003t0019g0210	1	388	0.0026	0	c.291 others(3): Show c.291T>C	p.Tyr others(5): Show p.Tyr97Tyr	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/4	344/9375	291/651	97/216		chr1	TogoVar
ALG1L2_chr3_130076831_130103390	130092230	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0006 a0001c0008 a0002c0002 others(6): Show a0001c0006 a0001c0008 a0002c0002 a0002c0007 a0002c0012 a0002c0015 a0003c0005 a0003c0011 a0005c0009	a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 others(9): Show a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0003c0005t0001 a0003c0011t0001 a0005c0009t0001 a0005c0009t0005	a0001c0006t0001g0075 a0001c0006t0002g0018 a0001c0006t0002g0074 others(33): Show a0001c0006t0001g0075 a0001c0006t0002g0018 a0001c0006t0002g0074 a0001c0008t0001g0078 a0001c0008t0002g0076 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0007t0001g0081 a0002c0007t0001g0082 a0002c0012t0001g0072 a0002c0015t0001g0098 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0011t0001g0036 a0003c0011t0001g0038 a0005c0009t0001g0150 a0005c0009t0005g0046	49	261	0.1877	0	c.253 others(5): Show c.253+8T>C		ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	3/7					chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130094518	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0006 a0002c0002 a0002c0007 others(5): Show a0001c0006 a0002c0002 a0002c0007 a0002c0012 a0002c0015 a0003c0005 a0003c0011 a0005c0009	a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 others(7): Show a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0003c0005t0001 a0003c0011t0001 a0005c0009t0001 a0005c0009t0005	a0001c0006t0001g0075 a0001c0006t0002g0018 a0001c0006t0002g0074 others(31): Show a0001c0006t0001g0075 a0001c0006t0002g0018 a0001c0006t0002g0074 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0007t0001g0081 a0002c0007t0001g0082 a0002c0012t0001g0072 a0002c0015t0001g0098 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0011t0001g0036 a0003c0011t0001g0038 a0005c0009t0001g0150 a0005c0009t0005g0046	47	261	0.1801	0	c.424 others(5): Show c.424+5G>C		ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	5/7					chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130096171	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	261	0.0038	0	c.539 others(5): Show c.539+8C>G		ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	6/7					chr3	TogoVar
ALG1_chr16_5066843_5092379	5078734	AGGCTTTT others(28): Show AGGCTTTTTTTCTGCTCCTTCAGCTCAGAACCTGAG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0096 a0009c0016t0003g0096	1	444	0.0023	-35	c.741 others(45): Show c.741-21_754delGCTTTTTTTCTGCTCCTTCAGCTCAGAACCTGAGG	p.Ser others(5): Show p.Ser248fs	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	7/13		741/1395	247/464	INFO_REALIGN_3_PRIME	chr16	TogoVar
ALG1_chr16_5066843_5092379	5083678	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18951.hp2 NA18982.hp1 NA18944.hp2 NA18951.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0121 a0001c0001t0001g0040 a0001c0001t0001g0121	3	444	0.0068	0	c.118 others(6): Show c.1188-4G>A		ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	11/12					chr16	TogoVar
ALG3_chr3_184237301_184253962	184243634	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	340	0.0029	0	c.933 others(5): Show c.933-4C>T		ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	6/8					chr3	TogoVar
ALG6_chr1_63362627_63443553	63407059	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	388	0.0026	0	c.430 others(5): Show c.430-3C>T		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	6/14					chr1	TogoVar
ALG6_chr1_63362627_63443553	63411329	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0020 a0006c0009t0020	a0006c0009t0020g0322 a0006c0009t0020g0322	1	388	0.0026	0	c.678 others(3): Show c.678G>T	p.Lys others(6): Show p.Lys226Asn	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	8/15	946/3325	678/1524	226/507		chr1	TogoVar
ALG8_chr11_78095946_78144626	78106951	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG02647.hp2 HG02922.hp2 others(3): Show HG01081.hp2 HG02647.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0110 others(3): Show a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113	6	402	0.0149	0	c.103 others(6): Show c.1039-5T>C		ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	9/12					chr11	TogoVar
ALG8_chr11_78095946_78144626	78112642	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	402	0.0025	0	c.898 others(5): Show c.898+8A>G		ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	8/12					chr11	TogoVar
ALG8_chr11_78095946_78144626	78112652	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02630.hp2 HG02809.hp1 others(2): Show HG02451.hp1 HG02630.hp2 HG02809.hp1 HG03098.hp1 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 others(2): Show a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0228 a0003c0004t0001g0244	5	402	0.0124	0	c.896 others(3): Show c.896T>C	p.Ile others(6): Show p.Ile299Thr	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	8/13	934/1637	896/1581	299/526		chr11	TogoVar
ALG9_chr11_111777195_111876581	111809772	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00597.hp1 NA18968.hp2 NA18989.hp2 others(1): Show HG00597.hp1 NA18968.hp2 NA18989.hp2 NA19084.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 others(1): Show a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099	4	314	0.0127	0	c.160 others(4): Show c.1604T>G	p.Ile others(6): Show p.Ile535Ser	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	14/15	1703/6158	1604/1857	535/618		chr11	TogoVar
ALG9_chr11_111777195_111876581	111865258	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	314	0.0032	0	c.406 others(5): Show c.406-7C>T		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	3/14					chr11	TogoVar
ALG9_chr11_111777195_111876581	111868594	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	314	0.0064	0	c.405 others(5): Show c.405+8C>A		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	3/14					chr11	TogoVar

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