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
AKR1C1_chr10_4958415_4988283	4967049	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0164 a0006c0015t0164	a0006c0015t0164g0063 a0006c0015t0164g0063	1	426	0.0024	0	c.369 others(5): Show c.369+6C>A		AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	3/8					chr10	TogoVar
AKR1C1_chr10_4958415_4988283	4967051	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0164 a0006c0015t0164	a0006c0015t0164g0063 a0006c0015t0164g0063	1	426	0.0024	0	c.369 others(5): Show c.369+8G>A		AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	3/8					chr10	TogoVar
AKR1C1_chr10_4958415_4988283	4968814	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG02738.hp2 HG03017.hp1 others(1): Show HG01255.hp2 HG02738.hp2 HG03017.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0114 a0001c0001t0115 a0001c0001t0039 a0001c0001t0114 a0001c0001t0115	a0001c0001t0039g0032 a0001c0001t0114g0071 a0001c0001t0115g0070 a0001c0001t0039g0032 a0001c0001t0114g0071 a0001c0001t0115g0070	4	426	0.0094	0	c.448 others(5): Show c.448-8T>G		AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	4/8					chr10	TogoVar
AKR1C1_chr10_4958415_4988283	4975940	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(307): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0003c0009 a0004c0011 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(117): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0132 a0001c0001t0134 a0001c0001t0135 a0001c0001t0167 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0054 a0001c0002t0058 a0001c0002t0060 a0001c0002t0064 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0166 a0001c0003t0033 a0001c0003t0089 a0001c0003t0090 a0001c0003t0091 a0001c0004t0024 a0001c0004t0055 a0001c0004t0056 a0001c0005t0025 a0001c0006t0083 a0001c0006t0084 a0001c0007t0021 a0001c0010t0082 a0001c0013t0002 a0003c0009t0002 a0004c0011t0065 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(164): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0091 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0010g0001 a0001c0001t0010g0124 a0001c0001t0011g0001 a0001c0001t0012g0016 a0001c0001t0012g0081 a0001c0001t0013g0036 a0001c0001t0013g0037 a0001c0001t0015g0024 a0001c0001t0015g0025 a0001c0001t0016g0004 a0001c0001t0017g0017 a0001c0001t0018g0005 a0001c0001t0019g0026 a0001c0001t0020g0021 a0001c0001t0020g0048 a0001c0001t0020g0069 a0001c0001t0021g0003 a0001c0001t0026g0025 a0001c0001t0027g0038 a0001c0001t0031g0004 a0001c0001t0031g0093 a0001c0001t0032g0004 a0001c0001t0034g0111 a0001c0001t0034g0121 a0001c0001t0035g0001 a0001c0001t0036g0027 a0001c0001t0036g0110 a0001c0001t0037g0013 a0001c0001t0038g0001 a0001c0001t0038g0112 a0001c0001t0039g0032 a0001c0001t0040g0003 a0001c0001t0040g0046 a0001c0001t0041g0003 a0001c0001t0041g0021 a0001c0001t0042g0003 a0001c0001t0043g0003 a0001c0001t0052g0016 a0001c0001t0053g0082 a0001c0001t0057g0090 a0001c0001t0059g0034 a0001c0001t0061g0024 a0001c0001t0062g0102 a0001c0001t0063g0103 a0001c0001t0070g0101 a0001c0001t0071g0034 a0001c0001t0072g0104 a0001c0001t0073g0004 a0001c0001t0074g0004 a0001c0001t0075g0095 a0001c0001t0076g0004 a0001c0001t0077g0017 a0001c0001t0078g0094 a0001c0001t0079g0004 a0001c0001t0080g0004 a0001c0001t0081g0004 a0001c0001t0085g0085 a0001c0001t0086g0086 a0001c0001t0087g0088 a0001c0001t0088g0011 a0001c0001t0092g0011 a0001c0001t0093g0039 a0001c0001t0094g0001 a0001c0001t0095g0125 a0001c0001t0096g0001 a0001c0001t0097g0001 a0001c0001t0098g0001 a0001c0001t0099g0001 a0001c0001t0100g0001 a0001c0001t0101g0001 a0001c0001t0102g0108 a0001c0001t0103g0107 a0001c0001t0104g0001 a0001c0001t0105g0055 a0001c0001t0106g0001 a0001c0001t0107g0001 a0001c0001t0108g0005 a0001c0001t0109g0001 a0001c0001t0110g0001 a0001c0001t0111g0027 a0001c0001t0112g0027 a0001c0001t0113g0001 a0001c0001t0114g0071 a0001c0001t0115g0070 a0001c0001t0116g0087 a0001c0001t0119g0003 a0001c0001t0120g0003 a0001c0001t0121g0003 a0001c0001t0122g0021 a0001c0001t0123g0003 a0001c0001t0124g0003 a0001c0001t0125g0003 a0001c0001t0126g0003 a0001c0001t0127g0019 a0001c0001t0128g0003 a0001c0001t0129g0003 a0001c0001t0130g0003 a0001c0001t0132g0047 a0001c0001t0134g0003 a0001c0001t0135g0020 a0001c0001t0167g0092 a0001c0002t0028g0007 a0001c0002t0029g0007 a0001c0002t0030g0076 a0001c0002t0030g0079 a0001c0002t0054g0007 a0001c0002t0058g0083 a0001c0002t0060g0084 a0001c0002t0064g0073 a0001c0002t0066g0078 a0001c0002t0067g0074 a0001c0002t0068g0075 a0001c0002t0069g0007 a0001c0002t0166g0077 a0001c0003t0033g0012 a0001c0003t0089g0012 a0001c0003t0090g0012 a0001c0003t0091g0012 a0001c0004t0024g0023 a0001c0004t0055g0089 a0001c0004t0056g0023 a0001c0005t0025g0033 a0001c0006t0083g0080 a0001c0006t0084g0072 a0001c0007t0021g0049 a0001c0010t0082g0010 a0001c0013t0002g0050 a0003c0009t0002g0003 a0004c0011t0065g0007 a0005c0014t0001g0105	310	426	0.7277	0	c.929 others(5): Show c.929+7A>G		AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	8/8					chr10	TogoVar
AKR1C2_chr10_4982775_5008857	4991824	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(153): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0001c0013 others(1): Show a0001c0001 a0001c0012 a0001c0013 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0051 a0001c0012t0001 a0001c0013t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0003g0077 a0001c0001t0004g0099 a0001c0001t0011g0016 a0001c0001t0020g0036 a0001c0001t0021g0047 a0001c0001t0024g0049 a0001c0001t0029g0122 a0001c0001t0033g0108 a0001c0001t0034g0129 a0001c0001t0035g0130 a0001c0001t0036g0131 a0001c0001t0037g0132 a0001c0001t0038g0123 a0001c0001t0051g0133 a0001c0012t0001g0118 a0001c0013t0001g0121 a0003c0006t0001g0024	156	412	0.3786	0	c.929 others(5): Show c.929+7A>G		AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding	8/8					chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5102482	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	438	0.0023	0	c.681 others(5): Show c.681-3C>T		AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	6/8					chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5107457	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(14): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG02145.hp1 HG02280.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0011 a0004c0005 a0001c0001 a0002c0011 a0004c0005	a0001c0001t0001 a0002c0011t0001 a0004c0005t0001 a0001c0001t0001 a0002c0011t0001 a0004c0005t0001	a0001c0001t0001g0109 a0002c0011t0001g0009 a0004c0005t0001g0009 others(2): Show a0001c0001t0001g0109 a0002c0011t0001g0009 a0004c0005t0001g0009 a0004c0005t0001g0018 a0004c0005t0001g0019	17	438	0.0388	0	c.930 others(5): Show c.930-4T>G		AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	8/8					chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5218719	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show HG00408.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG03239.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18953.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 others(20): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0003g0003 a0002c0002t0003g0016 a0002c0002t0003g0023 a0002c0005t0002g0013	49	434	0.1129	0	c.931 others(3): Show c.931C>G	p.Leu others(6): Show p.Leu311Val	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	9/9	962/1192	931/972	311/323		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5157799	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0162 a0008c0009t0001g0162	1	408	0.0025	0	c.691 others(3): Show c.691G>A	p.Val others(6): Show p.Val231Met	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/9	737/1247	691/981	231/326		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5159877	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp1 HG03927.hp1 HG01069.hp1 HG01071.hp1 HG03927.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0028 a0003c0006t0002g0066 a0003c0006t0002g0028 a0003c0006t0002g0066	3	408	0.0074	0	c.579 others(5): Show c.579+6C>T		AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	5/8					chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5159943	GTGATTGA others(229): Show GTGATTGAAATTGGACACCCCAATGGACCTGGTTAAACCTGCTTCTTTGC ACTTCTCCAGGGCCTGGGGAGGAAGGATATGGGTGATAGACCTTTAGTGT AAATTTTTCTTTTCAATTGGCGTTTGACTTTGTAAATGCTGGAAATCTGT TTTAACATATATAAATATTAGACTGAATTAAACAGTTTTATCACTTGAAT ATACAATTTCCTAATGCATTACCTTGCTATGCATATA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02523.hp2 HG02602.hp2 HG03239.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18941.hp2 NA18953.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0006t0002 a0003c0004t0002 a0003c0006t0002	a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0009 others(27): Show a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0029 a0003c0004t0002g0030 a0003c0004t0002g0069 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0086 a0003c0004t0002g0087 a0003c0004t0002g0088 a0003c0004t0002g0089 a0003c0004t0002g0165 a0003c0006t0002g0028 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0064 a0003c0006t0002g0065 a0003c0006t0002g0066	43	408	0.1054	-236	c.457 others(11): Show c.457-174_518del	p.Ala others(5): Show p.Ala153fs	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	5/9	564/1247	457/981	153/326		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5163019	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0070 a0007c0016t0003g0070	1	408	0.0025	0	c.95C others(2): Show c.95C>G	p.Thr others(5): Show p.Thr32Ser	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	2/9	141/1247	95/981	32/326		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138097847	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(342): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0003c0007 a0004c0008 a0005c0009 a0006c0005 a0007c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0002t0006 a0001c0002t0028 a0001c0006t0057 a0002c0004t0002 a0003c0007t0001 a0004c0008t0003 a0005c0009t0001 a0006c0005t0056 a0007c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(300): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0352 a0001c0001t0001g0359 a0001c0001t0002g0004 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0063 a0001c0001t0002g0154 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0122 a0001c0001t0003g0325 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0004g0171 a0001c0001t0004g0186 a0001c0001t0004g0194 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0225 a0001c0001t0005g0230 a0001c0001t0005g0235 a0001c0001t0005g0243 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0251 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0271 a0001c0001t0006g0288 a0001c0001t0007g0001 a0001c0001t0007g0003 a0001c0001t0007g0058 a0001c0001t0007g0110 a0001c0001t0007g0247 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0007g0320 a0001c0001t0008g0011 a0001c0001t0008g0020 a0001c0001t0008g0067 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0088 a0001c0001t0008g0101 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0040 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0010g0036 a0001c0001t0010g0038 a0001c0001t0010g0160 a0001c0001t0010g0218 a0001c0001t0010g0252 a0001c0001t0010g0300 a0001c0001t0010g0301 a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0115 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0011g0220 a0001c0001t0012g0054 a0001c0001t0012g0060 a0001c0001t0012g0262 a0001c0001t0012g0268 a0001c0001t0013g0176 a0001c0001t0014g0098 a0001c0001t0014g0269 a0001c0001t0014g0329 a0001c0001t0014g0336 a0001c0001t0015g0355 a0001c0001t0015g0356 a0001c0001t0015g0357 a0001c0001t0015g0358 a0001c0001t0016g0165 a0001c0001t0016g0175 a0001c0001t0016g0198 a0001c0001t0018g0028 a0001c0001t0018g0222 a0001c0001t0018g0289 a0001c0001t0019g0066 a0001c0001t0019g0076 a0001c0001t0019g0082 a0001c0001t0020g0316 a0001c0001t0023g0095 a0001c0001t0023g0141 a0001c0001t0024g0172 a0001c0001t0029g0253 a0001c0001t0029g0312 a0001c0001t0031g0116 a0001c0001t0031g0257 a0001c0001t0032g0013 a0001c0001t0033g0007 a0001c0001t0033g0012 a0001c0001t0034g0007 a0001c0001t0034g0282 a0001c0001t0036g0109 a0001c0001t0037g0056 a0001c0001t0037g0061 a0001c0001t0038g0195 a0001c0001t0039g0363 a0001c0001t0043g0041 a0001c0001t0044g0039 a0001c0001t0045g0045 a0001c0001t0046g0308 a0001c0001t0047g0272 a0001c0001t0048g0219 a0001c0001t0049g0347 a0001c0001t0050g0029 a0001c0001t0051g0002 a0001c0001t0052g0239 a0001c0001t0053g0111 a0001c0001t0054g0258 a0001c0001t0055g0331 a0001c0001t0058g0223 a0001c0001t0059g0036 a0001c0001t0060g0070 a0001c0001t0061g0221 a0001c0001t0064g0354 a0001c0001t0066g0341 a0001c0001t0067g0244 a0001c0002t0006g0255 a0001c0002t0028g0217 a0001c0002t0028g0248 a0001c0006t0057g0096 a0002c0004t0002g0023 a0003c0007t0001g0126 a0004c0008t0003g0079 a0005c0009t0001g0156 a0006c0005t0056g0008 a0007c0003t0001g0310	345	426	0.8099	-1	c.379 others(6): Show c.379-4delT		AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138097847	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00621.hp2 HG00741.hp1 others(59): Show HG00544.hp1 HG00621.hp2 HG00741.hp1 HG01099.hp1 HG01255.hp2 HG01258.hp2 HG01884.hp2 HG01978.hp1 HG02280.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0062 a0001c0001t0065 a0001c0002t0026	a0001c0001t0001g0139 a0001c0001t0001g0330 a0001c0001t0002g0021 others(57): Show a0001c0001t0001g0139 a0001c0001t0001g0330 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0166 a0001c0001t0003g0062 a0001c0001t0004g0009 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0046 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0117 a0001c0001t0004g0121 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0162 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0200 a0001c0001t0004g0323 a0001c0001t0004g0362 a0001c0001t0005g0134 a0001c0001t0007g0152 a0001c0001t0007g0228 a0001c0001t0010g0246 a0001c0001t0012g0081 a0001c0001t0017g0342 a0001c0001t0017g0343 a0001c0001t0017g0344 a0001c0001t0024g0132 a0001c0001t0025g0089 a0001c0001t0025g0092 a0001c0001t0027g0345 a0001c0001t0027g0346 a0001c0001t0030g0105 a0001c0001t0036g0107 a0001c0001t0040g0118 a0001c0001t0041g0197 a0001c0001t0042g0351 a0001c0001t0062g0106 a0001c0001t0065g0207 a0001c0002t0026g0048 a0001c0002t0026g0049	62	426	0.1455	-2	c.379 others(13): Show c.379-5_379-4delTT		AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138097943	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0023 a0002c0004t0002g0023	1	426	0.0024	0	c.456 others(3): Show c.456G>C	p.Glu others(6): Show p.Glu152Asp	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/9	516/2684	456/981	152/326		chr7	TogoVar
AKR1E2_chr10_4821207_4853062	4830845	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02630.hp1 HG02615.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	2	358	0.0056	0	c.207 others(5): Show c.207+3A>G		AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	2/9					chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4833472	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00741.hp2 HG01106.hp2 others(26): Show HG00642.hp1 HG00741.hp2 HG01106.hp2 HG02015.hp1 HG02129.hp1 HG02155.hp2 HG03453.hp2 NA18612.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18988.hp2 NA18994.hp1 NA19010.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0014 a0002c0002t0003 a0002c0002t0012 a0002c0002t0014	a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 others(14): Show a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0012g0015 a0002c0002t0014g0016	29	358	0.0810	0	c.324 others(5): Show c.324+6G>A		AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	3/9					chr10	TogoVar
AKR7A3_chr1_19277573_19293770	19282892	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0005 a0013c0021t0005	a0013c0021t0005g0042 a0013c0021t0005g0042	1	432	0.0023	0	c.835 others(3): Show c.835G>A	p.Gly others(6): Show p.Gly279Ser	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	896/1215	835/996	279/331		chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19283989	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 HG02132.hp2 HG04199.hp1 others(8): Show HG02071.hp1 HG02132.hp2 HG04199.hp1 NA18940.hp1 NA18944.hp2 NA18974.hp1 NA18982.hp1 NA18991.hp1 NA19011.hp1 NA19054.hp2 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0012 a0004c0005t0001g0023 a0004c0005t0001g0047 a0004c0005t0001g0012 a0004c0005t0001g0023 a0004c0005t0001g0047	11	432	0.0255	0	c.834 others(5): Show c.834+7A>G		AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	6/6					chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19285999	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01099.hp1 HG01106.hp2 others(14): Show HG01069.hp1 HG01099.hp1 HG01106.hp2 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG03098.hp1 HG03579.hp2 NA18953.hp2 NA18972.hp2 NA19012.hp2 NA19084.hp1 NA19091.hp2	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0010	a0002c0004 a0004c0005 a0008c0014 others(1): Show a0002c0004 a0004c0005 a0008c0014 a0010c0012	a0002c0004t0001 a0004c0005t0001 a0008c0014t0001 others(1): Show a0002c0004t0001 a0004c0005t0001 a0008c0014t0001 a0010c0012t0001	a0002c0004t0001g0062 a0004c0005t0001g0009 a0008c0014t0001g0029 others(1): Show a0002c0004t0001g0062 a0004c0005t0001g0009 a0008c0014t0001g0029 a0010c0012t0001g0027	17	432	0.0394	0	c.403 others(5): Show c.403-7T>C		AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	2/6					chr1	TogoVar
AKT1S1_chr19_49864039_49882355	49871813	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02523.hp1 NA19058.hp1 HG02523.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0082 a0001c0003t0003g0084 a0001c0003t0003g0082 a0001c0003t0003g0084	2	420	0.0048	0	c.456 others(3): Show c.456T>C	p.Asp others(6): Show p.Asp152Asp	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	3/5	582/1775	456/771	152/256		chr19	TogoVar
AKT1_chr14_104764349_104800748	104773098	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	386	0.0026	0	c.958 others(5): Show c.958-6G>A		AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	11/14					chr14	TogoVar
AKT1_chr14_104764349_104800748	104773099	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	386	0.0026	0	c.958 others(5): Show c.958-7C>T		AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	11/14					chr14	TogoVar
AKTIP_chr16_53486040_53508209	53503148	C C	G G	splice_region_variant splice_region_variant	LOW	HG02109.hp1 NA21309.hp2 HG02109.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0020 a0001c0002t0008g0020	2	386	0.0052	0	c.-72 others(3): Show c.-72G>C		AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding	1/10					chr16	TogoVar
ALAD_chr9_113381312_113406284	113390398	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	446	0.0022	0	c.570 others(5): Show c.570+7G>T		ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	7/11					chr9	TogoVar
ALAS1_chr3_52193160_52219327	52203860	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	354	0.0028	0	c.428 others(5): Show c.428-3C>T		ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	4/11					chr3	TogoVar
ALAS2_chrX_55004055_55035977	55015579	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02647.hp1 HG03453.hp2 HG02647.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	2	284	0.0070	0	c.116 others(4): Show c.1167T>G	p.Leu others(6): Show p.Leu389Leu	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	8/11	1218/1940	1167/1764	389/587		chrX	TogoVar
ALB_chr4_73399287_73426482	73408586	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	392	0.0026	0	c.271 others(5): Show c.271-8C>T		ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	3/14					chr4	TogoVar
ALB_chr4_73399287_73426482	73410309	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0039 a0003c0004t0001g0039	2	392	0.0051	0	c.616 others(5): Show c.616-3T>C		ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	5/14					chr4	TogoVar
ALB_chr4_73399287_73426482	73416360	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	392	0.0026	0	c.128 others(6): Show c.1289+7A>T		ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	10/14					chr4	TogoVar
ALB_chr4_73399287_73426482	73418311	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18977.hp1 NA18977.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0003 a0004c0007t0001g0003	1	392	0.0026	0	c.165 others(4): Show c.1652C>T	p.Thr others(6): Show p.Thr551Ile	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	12/15	1693/2285	1652/1830	551/609		chr4	TogoVar
ALCAM_chr3_105361909_105581900	105540102	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0332 a0001c0015t0001g0332	1	378	0.0027	0	c.858 others(3): Show c.858A>G	p.Pro others(6): Show p.Pro286Pro	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	7/16	1358/4701	858/1752	286/583		chr3	TogoVar
ALCAM_chr3_105361909_105581900	105547150	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0083 a0006c0014t0002g0083	1	378	0.0027	0	c.110 others(4): Show c.1106A>G	p.Asp others(6): Show p.Asp369Gly	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	10/16	1606/4701	1106/1752	369/583		chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49453425	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0230 a0002c0003t0002g0230	1	342	0.0029	0	c.90+ others(4): Show c.90+4A>G		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	1/16					chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49464527	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	342	0.0029	0	c.143 others(6): Show c.1437+5G>A		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	11/16					chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49465911	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02615.hp2 HG02630.hp2 others(2): Show HG02451.hp1 HG02615.hp2 HG02630.hp2 HG02886.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0027 a0003c0004t0002g0127 a0003c0004t0002g0128 others(1): Show a0003c0004t0002g0027 a0003c0004t0002g0127 a0003c0004t0002g0128 a0003c0004t0002g0129	5	342	0.0146	0	c.173 others(6): Show c.1736+6G>A		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	13/16					chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49468373	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG02486.hp2 NA18906.hp1 HG00733.hp2 HG02486.hp2 NA18906.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0009 a0006c0011t0009	a0006c0011t0009g0024 a0006c0011t0009g0080 a0006c0011t0009g0024 a0006c0011t0009g0080	3	342	0.0088	0	c.193 others(6): Show c.1939-8C>T		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	14/16					chr19	TogoVar
ALDH18A1_chr10_95600941_95661711	95613967	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0057 a0002c0014t0003g0057	1	372	0.0027	0	c.180 others(4): Show c.1800A>G	p.Leu others(6): Show p.Leu600Leu	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	14/18	1943/3352	1800/2388	600/795		chr10	TogoVar
ALDH18A1_chr10_95600941_95661711	95653292	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0012 a0004c0017t0012	a0004c0017t0012g0249 a0004c0017t0012g0249	1	372	0.0027	0	c.86C others(2): Show c.86C>T	p.Ser others(5): Show p.Ser29Phe	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	2/18	229/3352	86/2388	29/795		chr10	TogoVar
ALDH1A1_chr9_72895671_72958053	72925477	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02486.hp2 HG02818.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG02818.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0155 a0001c0001t0001g0194	4	306	0.0131	0	c.633 others(5): Show c.633+7C>A		ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	6/12					chr9	TogoVar
ALDH1A2_chr15_57948429_58070711	57961292	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp2 HG02895.hp1 HG02897.hp1 others(17): Show HG02258.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18979.hp2 NA18991.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19010.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19084.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0016 others(17): Show a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0044 a0002c0003t0003g0046 a0002c0003t0003g0049 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0135 a0002c0003t0003g0150 a0002c0003t0003g0168 a0002c0003t0003g0195	20	326	0.0614	0	c.125 others(4): Show c.1254C>A	p.Ile others(6): Show p.Ile418Ile	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	11/13	1315/3386	1254/1557	418/518		chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100885376	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0059 a0001c0001t0038g0059	1	414	0.0024	0	c.204 others(5): Show c.204+5A>C		ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	2/12					chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100893011	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	414	0.0024	0	c.537 others(5): Show c.537+5G>A		ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	5/12					chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100900569	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18941.hp2 NA19065.hp2 NA18941.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0163 a0001c0001t0001g0183	2	414	0.0048	0	c.884 others(5): Show c.884-6C>A		ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	8/12					chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100905695	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(125): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 others(76): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0005 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0008g0019 a0001c0001t0008g0031 a0001c0001t0008g0083 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0025g0256 a0001c0001t0033g0035 a0001c0001t0034g0080 a0001c0001t0035g0035	128	414	0.3092	0	c.123 others(6): Show c.1233+8G>A		ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	10/12					chr15	TogoVar
ALDH1L1_chr3_126098570_126185586	126131538	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(248): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0027 a0028	a0001c0001 a0001c0007 a0001c0028 others(34): Show a0001c0001 a0001c0007 a0001c0028 a0001c0030 a0002c0002 a0002c0013 a0003c0003 a0003c0023 a0004c0004 a0005c0005 a0005c0020 a0005c0043 a0006c0006 a0006c0038 a0007c0010 a0007c0014 a0008c0008 a0009c0009 a0009c0024 a0010c0012 a0010c0037 a0011c0011 a0012c0040 a0013c0021 a0014c0022 a0016c0018 a0017c0016 a0018c0042 a0019c0035 a0020c0039 a0021c0036 a0022c0033 a0023c0034 a0024c0032 a0026c0029 a0027c0027 a0028c0025	a0001c0001t0001 a0001c0007t0001 a0001c0028t0001 others(34): Show a0001c0001t0001 a0001c0007t0001 a0001c0028t0001 a0001c0030t0001 a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 a0003c0023t0001 a0004c0004t0001 a0005c0005t0001 a0005c0020t0001 a0005c0043t0001 a0006c0006t0001 a0006c0038t0001 a0007c0010t0001 a0007c0014t0001 a0008c0008t0001 a0009c0009t0001 a0009c0024t0001 a0010c0012t0001 a0010c0037t0001 a0011c0011t0001 a0012c0040t0001 a0013c0021t0001 a0014c0022t0001 a0016c0018t0001 a0017c0016t0001 a0018c0042t0001 a0019c0035t0001 a0020c0039t0001 a0021c0036t0001 a0022c0033t0001 a0023c0034t0001 a0024c0032t0001 a0026c0029t0001 a0027c0027t0001 a0028c0025t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022 others(234): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0322 a0001c0007t0001g0009 a0001c0007t0001g0069 a0001c0007t0001g0126 a0001c0007t0001g0138 a0001c0007t0001g0165 a0001c0007t0001g0168 a0001c0007t0001g0181 a0001c0007t0001g0239 a0001c0028t0001g0097 a0001c0030t0001g0035 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0067 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0180 a0002c0002t0001g0200 a0002c0002t0001g0210 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0235 a0002c0002t0001g0244 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0268 a0002c0002t0001g0283 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0013t0001g0002 a0002c0013t0001g0038 a0003c0003t0001g0017 a0003c0003t0001g0049 a0003c0003t0001g0058 a0003c0003t0001g0060 a0003c0003t0001g0073 a0003c0003t0001g0093 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0119 a0003c0003t0001g0121 a0003c0003t0001g0154 a0003c0003t0001g0172 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0182 a0003c0003t0001g0190 a0003c0003t0001g0197 a0003c0003t0001g0209 a0003c0003t0001g0228 a0003c0003t0001g0238 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0291 a0003c0023t0001g0140 a0003c0023t0001g0141 a0004c0004t0001g0020 a0004c0004t0001g0043 a0004c0004t0001g0064 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0131 a0004c0004t0001g0157 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0259 a0004c0004t0001g0296 a0004c0004t0001g0297 a0004c0004t0001g0299 a0004c0004t0001g0301 a0004c0004t0001g0307 a0005c0005t0001g0001 a0005c0005t0001g0004 a0005c0005t0001g0015 a0005c0005t0001g0026 a0005c0005t0001g0037 a0005c0005t0001g0039 a0005c0005t0001g0046 a0005c0005t0001g0047 a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0001g0149 a0005c0005t0001g0187 a0005c0005t0001g0323 a0005c0020t0001g0014 a0005c0043t0001g0145 a0006c0006t0001g0010 a0006c0006t0001g0056 a0006c0006t0001g0059 a0006c0006t0001g0061 a0006c0006t0001g0063 a0006c0006t0001g0066 a0006c0006t0001g0136 a0006c0006t0001g0147 a0006c0038t0001g0068 a0007c0010t0001g0016 a0007c0010t0001g0018 a0007c0010t0001g0019 a0007c0010t0001g0146 a0007c0014t0001g0005 a0007c0014t0001g0151 a0008c0008t0001g0003 a0008c0008t0001g0034 a0008c0008t0001g0040 a0008c0008t0001g0041 a0008c0008t0001g0045 a0008c0008t0001g0077 a0008c0008t0001g0175 a0009c0009t0001g0006 a0009c0009t0001g0062 a0009c0009t0001g0081 a0009c0009t0001g0194 a0009c0009t0001g0201 a0009c0009t0001g0202 a0009c0024t0001g0032 a0010c0012t0001g0088 a0010c0012t0001g0129 a0010c0012t0001g0133 a0010c0012t0001g0177 a0010c0012t0001g0292 a0010c0012t0001g0293 a0010c0037t0001g0124 a0011c0011t0001g0021 a0011c0011t0001g0024 a0011c0011t0001g0130 a0011c0011t0001g0144 a0011c0011t0001g0166 a0011c0011t0001g0192 a0012c0040t0001g0139 a0013c0021t0001g0142 a0013c0021t0001g0143 a0014c0022t0001g0028 a0014c0022t0001g0074 a0016c0018t0001g0102 a0016c0018t0001g0103 a0017c0016t0001g0052 a0017c0016t0001g0295 a0018c0042t0001g0155 a0019c0035t0001g0167 a0020c0039t0001g0042 a0021c0036t0001g0267 a0022c0033t0001g0135 a0023c0034t0001g0025 a0024c0032t0001g0256 a0026c0029t0001g0075 a0027c0027t0001g0231 a0028c0025t0001g0159	251	338	0.7426	0	c.147 others(6): Show c.1473-4T>C		ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	12/22					chr3	TogoVar
ALDH1L1_chr3_126098570_126185586	126136756	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00597.hp2 others(78): Show HG00099.hp1 HG00140.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01891.hp2 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03654.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18970.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19089.hp2 NA21309.hp2	a0002 a0006 a0009 others(5): Show a0002 a0006 a0009 a0010 a0011 a0019 a0021 a0028	a0002c0002 a0002c0013 a0006c0006 others(9): Show a0002c0002 a0002c0013 a0006c0006 a0006c0038 a0009c0009 a0009c0024 a0010c0012 a0010c0037 a0011c0011 a0019c0035 a0021c0036 a0028c0025	a0002c0002t0001 a0002c0013t0001 a0006c0006t0001 others(9): Show a0002c0002t0001 a0002c0013t0001 a0006c0006t0001 a0006c0038t0001 a0009c0009t0001 a0009c0024t0001 a0010c0012t0001 a0010c0037t0001 a0011c0011t0001 a0019c0035t0001 a0021c0036t0001 a0028c0025t0001	a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0029 others(73): Show a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0067 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0180 a0002c0002t0001g0200 a0002c0002t0001g0210 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0235 a0002c0002t0001g0244 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0268 a0002c0002t0001g0283 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0013t0001g0002 a0002c0013t0001g0038 a0006c0006t0001g0010 a0006c0006t0001g0056 a0006c0006t0001g0059 a0006c0006t0001g0061 a0006c0006t0001g0063 a0006c0006t0001g0066 a0006c0006t0001g0136 a0006c0006t0001g0147 a0006c0038t0001g0068 a0009c0009t0001g0006 a0009c0009t0001g0062 a0009c0009t0001g0081 a0009c0009t0001g0194 a0009c0009t0001g0201 a0009c0009t0001g0202 a0009c0024t0001g0032 a0010c0012t0001g0088 a0010c0012t0001g0129 a0010c0012t0001g0133 a0010c0012t0001g0177 a0010c0012t0001g0292 a0010c0012t0001g0293 a0010c0037t0001g0124 a0011c0011t0001g0021 a0011c0011t0001g0024 a0011c0011t0001g0130 a0011c0011t0001g0144 a0011c0011t0001g0166 a0011c0011t0001g0192 a0019c0035t0001g0167 a0021c0036t0001g0267 a0028c0025t0001g0159	81	338	0.2396	0	c.134 others(6): Show c.1344+8C>A		ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	11/22					chr3	TogoVar
ALDH1L1_chr3_126098570_126185586	126136883	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02145.hp1 HG02451.hp1 others(4): Show HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02809.hp1 HG02970.hp2 HG03195.hp1 HG03453.hp2	a0011 a0019 a0011 a0019	a0011c0011 a0019c0035 a0011c0011 a0019c0035	a0011c0011t0001 a0019c0035t0001 a0011c0011t0001 a0019c0035t0001	a0011c0011t0001g0021 a0011c0011t0001g0024 a0011c0011t0001g0130 others(4): Show a0011c0011t0001g0021 a0011c0011t0001g0024 a0011c0011t0001g0130 a0011c0011t0001g0144 a0011c0011t0001g0166 a0011c0011t0001g0192 a0019c0035t0001g0167	7	338	0.0207	0	c.122 others(4): Show c.1225G>A	p.Val others(6): Show p.Val409Met	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	11/23	1359/3064	1225/2709	409/902		chr3	TogoVar
ALDH1L1_chr3_126098570_126185586	126154648	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp2 HG03927.hp2 HG03669.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0282 a0001c0001t0001g0186 a0001c0001t0001g0282	2	338	0.0059	0	c.631 others(5): Show c.631-5C>T		ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	5/22					chr3	TogoVar
ALDH1L1_chr3_126098570_126185586	126155402	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0028 a0028	a0028c0025 a0028c0025	a0028c0025t0001 a0028c0025t0001	a0028c0025t0001g0159 a0028c0025t0001g0159	1	338	0.0030	0	c.630 others(3): Show c.630G>T	p.Lys others(6): Show p.Lys210Asn	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	5/23	764/3064	630/2709	210/902		chr3	TogoVar

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