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
GBGT1_chr9_133147948_133168914	133163746	A A	AGACTACT others(26): Show AGACTACTTACTCCTTACTCTTACTACTCTGCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	446	0.0022	33	c.-12 others(46): Show c.-121+7_-121+8insGGGCAGAGTAGTAAGAGTAAGGAGTAAGTAGT C		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	1/6					chr9	TogoVar
GBP3_chr1_89001680_89027866	89009386	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	436	0.0023	0	c.146 others(6): Show c.1465+6G>A		GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	9/10					chr1	TogoVar
GBP3_chr1_89001680_89027866	89013185	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01099.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02258.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18976.hp2 NA18980.hp2 NA18988.hp1 NA18990.hp1 NA19000.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0010 others(2): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0010 a0004c0004t0011 a0004c0004t0013	a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0025 others(50): Show a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0025 a0004c0004t0001g0028 a0004c0004t0001g0066 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0073 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0092 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0110 a0004c0004t0001g0118 a0004c0004t0001g0119 a0004c0004t0001g0120 a0004c0004t0001g0124 a0004c0004t0001g0126 a0004c0004t0001g0128 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0143 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0152 a0004c0004t0001g0153 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0161 a0004c0004t0001g0270 a0004c0004t0001g0286 a0004c0004t0002g0133 a0004c0004t0010g0100 a0004c0004t0011g0144 a0004c0004t0013g0340	59	436	0.1353	0	c.868 others(3): Show c.868C>T	p.Arg others(6): Show p.Arg290Cys	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	6/11	1073/3037	868/1788	290/595		chr1	TogoVar
GBP3_chr1_89001680_89027866	89014075	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18976.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018	a0001c0001 a0002c0002 a0003c0003 others(13): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008 a0004c0004 a0005c0006 a0006c0007 a0007c0009 a0010c0010 a0011c0014 a0012c0015 a0013c0017 a0014c0016 a0015c0018 a0016c0013 a0018c0020	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(23): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0003c0003t0001 a0003c0003t0005 a0003c0008t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0010 a0004c0004t0011 a0004c0004t0013 a0005c0006t0005 a0006c0007t0004 a0006c0007t0005 a0007c0009t0005 a0010c0010t0004 a0011c0014t0002 a0012c0015t0001 a0013c0017t0004 a0014c0016t0004 a0015c0018t0004 a0016c0013t0003 a0018c0020t0003	a0001c0001t0004g0006 a0001c0001t0004g0022 a0001c0001t0004g0023 others(215): Show a0001c0001t0004g0006 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0054 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0007g0296 a0001c0001t0007g0302 a0001c0001t0008g0055 a0001c0001t0008g0297 a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0063 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0218 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0006g0014 a0002c0002t0006g0040 a0002c0002t0006g0041 a0002c0002t0006g0167 a0002c0002t0006g0204 a0002c0002t0006g0213 a0002c0002t0006g0216 a0002c0002t0006g0217 a0002c0002t0009g0166 a0002c0002t0009g0206 a0002c0002t0009g0222 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0064 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0071 a0003c0003t0001g0074 a0003c0003t0001g0078 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0088 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0105 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0125 a0003c0003t0001g0127 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0225 a0003c0003t0005g0132 a0003c0003t0005g0160 a0003c0008t0002g0072 a0003c0008t0002g0115 a0003c0008t0002g0162 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0025 a0004c0004t0001g0028 a0004c0004t0001g0066 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0073 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0092 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0110 a0004c0004t0001g0118 a0004c0004t0001g0119 a0004c0004t0001g0120 a0004c0004t0001g0124 a0004c0004t0001g0126 a0004c0004t0001g0128 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0143 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0152 a0004c0004t0001g0153 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0161 a0004c0004t0001g0270 a0004c0004t0001g0286 a0004c0004t0002g0133 a0004c0004t0010g0100 a0004c0004t0011g0144 a0004c0004t0013g0340 a0005c0006t0005g0059 a0005c0006t0005g0300 a0005c0006t0005g0305 a0005c0006t0005g0306 a0005c0006t0005g0307 a0005c0006t0005g0308 a0005c0006t0005g0309 a0005c0006t0005g0310 a0005c0006t0005g0312 a0005c0006t0005g0313 a0005c0006t0005g0314 a0005c0006t0005g0315 a0005c0006t0005g0316 a0006c0007t0004g0024 a0006c0007t0004g0056 a0006c0007t0004g0057 a0006c0007t0004g0299 a0006c0007t0005g0007 a0007c0009t0005g0058 a0007c0009t0005g0311 a0010c0010t0004g0065 a0010c0010t0004g0117 a0011c0014t0002g0089 a0012c0015t0001g0079 a0013c0017t0004g0226 a0014c0016t0004g0317 a0015c0018t0004g0304 a0016c0013t0003g0201 a0018c0020t0003g0205	266	436	0.6101	0	c.625 others(5): Show c.625+8A>G		GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	5/10					chr1	TogoVar
GBP6_chr1_89359059_89393160	89381980	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0171 a0002c0002t0002g0171	1	452	0.0022	0	c.115 others(6): Show c.1152+6T>C		GBP6	ENSG00000183347.15	transcript	ENST00000370456.5	protein_coding	7/10					chr1	TogoVar
GBP7_chr1_89126742_89181003	89141539	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02717.hp2 HG02723.hp2 others(1): Show HG02630.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp2	a0005 a0008 a0005 a0008	a0005c0006 a0008c0013 a0005c0006 a0008c0013	a0005c0006t0002 a0008c0013t0002 a0005c0006t0002 a0008c0013t0002	a0005c0006t0002g0033 a0005c0006t0002g0090 a0008c0013t0002g0158 a0005c0006t0002g0033 a0005c0006t0002g0090 a0008c0013t0002g0158	4	376	0.0106	0	c.146 others(6): Show c.1468+7G>A		GBP7	ENSG00000213512.3	transcript	ENST00000294671.3	protein_coding	9/10					chr1	TogoVar
GBP7_chr1_89126742_89181003	89150330	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp2 HG02615.hp2 HG03098.hp2 HG01109.hp2 HG02615.hp2 HG03098.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0026 a0006c0008t0003g0063 a0006c0008t0003g0026 a0006c0008t0003g0063	3	376	0.0080	0	c.871 others(3): Show c.871C>T	p.Arg others(6): Show p.Arg291Trp	GBP7	ENSG00000213512.3	transcript	ENST00000294671.3	protein_coding	6/11	973/2426	871/1917	291/638		chr1	TogoVar
GBP7_chr1_89126742_89181003	89152777	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0166 a0009c0011t0002g0166	1	376	0.0027	0	c.319 others(3): Show c.319A>C	p.Ser others(6): Show p.Ser107Arg	GBP7	ENSG00000213512.3	transcript	ENST00000294671.3	protein_coding	4/11	421/2426	319/1917	107/638		chr1	TogoVar
GBP7_chr1_89126742_89181003	89171741	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	376	0.0027	0	c.190 others(5): Show c.190+5G>A		GBP7	ENSG00000213512.3	transcript	ENST00000294671.3	protein_coding	2/10					chr1	TogoVar
GCAT_chr22_37802934_37821897	37813616	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	390	0.0026	0	c.576 others(5): Show c.576+7C>T		GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding	4/8					chr22	TogoVar
GCAT_chr22_37802934_37821897	37815838	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	390	0.0026	0	c.986 others(5): Show c.986+4C>T		GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding	7/8					chr22	TogoVar
GCC2_chr2_108444206_108514415	108486652	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(87): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0002 a0001c0005 a0001c0015 others(2): Show a0001c0002 a0001c0005 a0001c0015 a0005c0010 a0010c0018	a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 others(7): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 a0001c0002t0021 a0001c0002t0034 a0001c0002t0035 a0001c0005t0001 a0001c0015t0001 a0005c0010t0020 a0010c0018t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0009 others(86): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0008g0017 a0001c0002t0008g0018 a0001c0002t0008g0019 a0001c0002t0008g0020 a0001c0002t0008g0021 a0001c0002t0008g0084 a0001c0002t0008g0085 a0001c0002t0013g0088 a0001c0002t0013g0089 a0001c0002t0013g0090 a0001c0002t0021g0002 a0001c0002t0021g0087 a0001c0002t0034g0073 a0001c0002t0035g0082 a0001c0005t0001g0029 a0001c0005t0001g0034 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0015t0001g0069 a0005c0010t0020g0158 a0005c0010t0020g0159 a0010c0018t0001g0063	90	276	0.3261	0	c.393 others(6): Show c.3930+4C>T		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	16/22					chr2	TogoVar
GCC2_chr2_108444206_108514415	108499549	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0022 a0004c0007t0022	a0004c0007t0022g0234 a0004c0007t0022g0234	1	276	0.0036	0	c.478 others(6): Show c.4783-4C>A		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	21/22					chr2	TogoVar
GCDH_chr19_12886160_12904999	12891202	G G	A A	splice_region_variant splice_region_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	374	0.0027	0	c.-35 others(3): Show c.-35G>A		GCDH	ENSG00000105607.13	transcript	ENST00000222214.10	protein_coding	1/12					chr19	TogoVar
GCDH_chr19_12886160_12904999	12897705	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp1 NA20300.hp2 NA19043.hp1 NA20300.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0018 a0002c0005t0002g0018	2	374	0.0054	0	c.108 others(4): Show c.1085C>A	p.Ala others(6): Show p.Ala362Asp	GCDH	ENSG00000105607.13	transcript	ENST00000222214.10	protein_coding	11/12	1162/1852	1085/1317	362/438		chr19	TogoVar
GCFC2_chr2_75657705_75715915	75702196	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	404	0.0025	0	c.619 others(5): Show c.619+3A>G		GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	3/16					chr2	TogoVar
GCFC2_chr2_75657705_75715915	75706655	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp1 HG03239.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0007 a0013c0014t0007	a0013c0014t0007g0160 a0013c0014t0007g0160	1	404	0.0025	0	c.266 others(5): Show c.266-4T>C		GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	1/16					chr2	TogoVar
GCGR_chr17_81799150_81819008	81809085	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	408	0.0025	0	c.60+ others(4): Show c.60+7A>T		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	2/13					chr17	TogoVar
GCGR_chr17_81799150_81819008	81812669	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	408	0.0025	0	c.103 others(6): Show c.1037+4G>C		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	11/13					chr17	TogoVar
GCGR_chr17_81799150_81819008	81813469	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG03239.hp2 HG03669.hp2 others(3): Show HG02602.hp2 HG03239.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0006c0010t0001g0016	6	408	0.0147	0	c.121 others(6): Show c.1219-5C>T		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	13/13					chr17	TogoVar
GCG_chr2_162137882_162157247	162147348	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 NA18956.hp2 NA18957.hp2 others(8): Show HG02132.hp2 NA18956.hp2 NA18957.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0090	11	436	0.0252	0	c.254 others(5): Show c.254+5G>A		GCG	ENSG00000115263.15	transcript	ENST00000418842.7	protein_coding	3/5					chr2	TogoVar
GCKR_chr2_27491839_27528684	27498323	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0072 a0001c0010t0001g0072	1	324	0.0031	0	c.354 others(3): Show c.354G>A	p.Ser others(6): Show p.Ser118Ser	GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	4/19	420/2189	354/1878	118/625		chr2	TogoVar
GCKR_chr2_27491839_27528684	27498803	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	324	0.0031	0	c.428 others(5): Show c.428+6C>T		GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	5/18					chr2	TogoVar
GCKR_chr2_27491839_27528684	27508073	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0008 a0009 a0010 a0013 a0014 a0015	a0001c0001 a0001c0010 a0001c0012 others(10): Show a0001c0001 a0001c0010 a0001c0012 a0003c0003 a0003c0008 a0004c0004 a0005c0005 a0008c0009 a0009c0018 a0010c0017 a0013c0013 a0014c0011 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0010t0001 a0001c0012t0001 a0003c0003t0001 a0003c0008t0001 a0004c0004t0001 a0005c0005t0001 a0008c0009t0001 a0009c0018t0001 a0010c0017t0001 a0013c0013t0001 a0014c0011t0001 a0015c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(176): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0005 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0103 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0010t0001g0072 a0001c0012t0001g0220 a0003c0003t0001g0001 a0003c0003t0001g0128 a0003c0003t0001g0140 a0003c0008t0001g0024 a0003c0008t0001g0026 a0004c0004t0001g0002 a0004c0004t0001g0064 a0004c0004t0001g0088 a0005c0005t0001g0036 a0005c0005t0001g0218 a0008c0009t0001g0146 a0009c0018t0001g0182 a0010c0017t0001g0221 a0013c0013t0001g0068 a0014c0011t0001g0225 a0015c0019t0001g0199	224	324	0.6914	0	c.133 others(4): Show c.1337T>C	p.Leu others(6): Show p.Leu446Pro	GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	15/19	1403/2189	1337/1878	446/625		chr2	TogoVar
GCKR_chr2_27491839_27528684	27518943	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01167.hp1 HG00733.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	324	0.0062	0	c.157 others(6): Show c.1572+6G>A		GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	17/18					chr2	TogoVar
GCK_chr7_44139275_44194439	44145489	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(178): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.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 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0003t0002 a0001c0004t0004 a0001c0006t0002 a0001c0007t0016 a0002c0002t0002	a0001c0001t0001g0259 a0001c0001t0002g0001 a0001c0001t0002g0006 others(164): Show a0001c0001t0001g0259 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0208 a0001c0001t0002g0216 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0323 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0047 a0001c0001t0004g0051 a0001c0001t0004g0085 a0001c0001t0004g0215 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0258 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0315 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0135 a0001c0001t0005g0141 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0225 a0001c0001t0005g0237 a0001c0001t0005g0275 a0001c0001t0006g0030 a0001c0001t0006g0100 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0257 a0001c0001t0010g0344 a0001c0001t0010g0348 a0001c0001t0010g0349 a0001c0001t0011g0351 a0001c0001t0011g0352 a0001c0001t0011g0354 a0001c0001t0013g0359 a0001c0001t0013g0360 a0001c0001t0019g0350 a0001c0003t0002g0288 a0001c0004t0004g0262 a0001c0006t0002g0068 a0001c0007t0016g0222 a0002c0002t0002g0003	181	392	0.4617	0	c.125 others(6): Show c.1253+8C>T		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	9/9					chr7	TogoVar
GCLC_chr6_53492341_53550101	53500356	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	426	0.0024	0	c.147 others(6): Show c.1478-6C>T		GCLC	ENSG00000001084.13	transcript	ENST00000650454.1	protein_coding	13/15					chr6	TogoVar
GCLC_chr6_53492341_53550101	53514342	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0243 a0001c0001t0007g0243	1	426	0.0024	0	c.620 others(5): Show c.620-5T>A		GCLC	ENSG00000001084.13	transcript	ENST00000650454.1	protein_coding	5/15					chr6	TogoVar
GCLC_chr6_53492341_53550101	53516225	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0397 a0001c0001t0048g0397	1	426	0.0024	0	c.447 others(5): Show c.447-3T>C		GCLC	ENSG00000001084.13	transcript	ENST00000650454.1	protein_coding	3/15					chr6	TogoVar
GCN1_chr12_120122202_120199715	120134526	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	312	0.0032	0	c.720 others(6): Show c.7202+7C>T		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	52/57					chr12	TogoVar
GCN1_chr12_120122202_120199715	120138423	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02055.hp2 HG02630.hp2 others(7): Show HG01243.hp1 HG02055.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02976.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0004c0013t0001 a0001c0001t0001 a0004c0013t0001	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0004c0013t0001g0098 a0004c0013t0001g0103 a0004c0013t0001g0104	10	312	0.0321	0	c.615 others(6): Show c.6157-8C>G		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	46/57					chr12	TogoVar
GCN1_chr12_120122202_120199715	120147046	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	312	0.0032	0	c.494 others(6): Show c.4947+6G>A		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	38/57					chr12	TogoVar
GCN1_chr12_120122202_120199715	120155241	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0030 a0001c0031t0002g0030	1	312	0.0032	0	c.363 others(4): Show c.3630C>T	p.Tyr others(7): Show p.Tyr1210Tyr	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	30/58	3648/8681	3630/8016	1210/2671		chr12	TogoVar
GCN1_chr12_120122202_120199715	120163263	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02965.hp1 HG02257.hp1 HG02965.hp1	a0001 a0015 a0001 a0015	a0001c0004 a0015c0032 a0001c0004 a0015c0032	a0001c0004t0003 a0015c0032t0001 a0001c0004t0003 a0015c0032t0001	a0001c0004t0003g0031 a0015c0032t0001g0113 a0001c0004t0003g0031 a0015c0032t0001g0113	2	312	0.0064	0	c.184 others(6): Show c.1849-4A>G		GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	18/57					chr12	TogoVar
GCNA_chrX_71573437_71618583	71609122	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01169.hp1 HG01256.hp1 others(2): Show HG01109.hp1 HG01169.hp1 HG01256.hp1 HG01978.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0010 a0001c0001t0001g0117 a0001c0001t0001g0150	5	265	0.0189	0	c.161 others(6): Show c.1611+5G>A		GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	10/12					chrX	TogoVar
GCNT1_chr9_76454182_76512416	76460061	G G	T T	splice_region_variant splice_region_variant	LOW	HG01884.hp1 HG02486.hp1 HG01884.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0322 a0001c0001t0022g0323 a0001c0001t0022g0322 a0001c0001t0022g0323	2	370	0.0054	0	c.-40 others(4): Show c.-406G>T		GCNT1	ENSG00000187210.14	transcript	ENST00000376730.5	protein_coding	2/4					chr9	TogoVar
GCNT1_chr9_76454182_76512416	76460062	C C	T T	splice_region_variant splice_region_variant	LOW	HG01884.hp1 HG02486.hp1 HG01884.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0322 a0001c0001t0022g0323 a0001c0001t0022g0322 a0001c0001t0022g0323	2	370	0.0054	0	c.-40 others(4): Show c.-405C>T		GCNT1	ENSG00000187210.14	transcript	ENST00000376730.5	protein_coding	2/4					chr9	TogoVar
GCNT2_chr6_10516351_10634368	10520791	TCCCCAGT others(1511): Show TCCCCAGTGTGGGTAGCATTTGAGCAGAACACATATCTAAATCTGTTAGA GGTTACCCTGGGGCAGAGACTATAAGATTTCCTACCAATAACTAAACATA AGAGTGGAACCTTAAACACGAGGGGTCTGTGAGGGAATCCAAAACTTCCC CTCTTGAAAAAGCAGCCTCTAAGGGGGCAAAATGGAGGGTAGTCTTAGGA AAACACCCAAATAATTATCCTGAGGTCTATCTTGGAGTGTCCTCATGAAA AACCCAGTTACACCCAGGGCAGTTACCTTTCTGAGCGGTTTCTTATAACA TTCCTGGAGTGGAAAGTGATCAACTCAAAGCCCTCCAGGACTCTAGAGGC AGGGGATGAGCTGGTGTCAGGTAGCACCTGGTATCCAGCAGCTTAAAAAA TCCAGACTCTAGGCAGGCTCTCTGTAGACGTGTGTTCTCCTGTCTCAGAC TCTTAGGGCAGGCCTTGGGGGTGGGACTGAAAGCAAACAGACCTTCCCAC TTTCACATTCCAGCCTCTGTTATTCCACTTAAAACGCTAGGGTTAAACTG CGTTTACCTTAAACAGGCTTACTGTGTTCACTGCTGGACGCCTCTGGGCA ATCTTACCCTCCTGGGAACTGAGAGAGGTAGGTGGAGGTCAGCGTGCTGG GAAACTGGTGGAGGGAGGAAACTGCGGGGAGCTGGTCTTCTCGTGTTACC TCTGTTAAATCGCTGACAGCAGTTTAAGGTCCAATAGGCTGGTACTCAAA TGGGCTGCGTGGATGTTTTATATTTCCAGAACCTAGCACAGTGCCGGGCA TAAAGTAAGTACACCAAAAAATGTTGAATGAGTCATTTGGTCATGAGATT TCTGTTTTCAAAGGTTTTTTTTTTTTCAAAGAATAGCATGTTTGTATGTT GTTTCATTACATGATGGGCCTACTGGGCACGAGGGTTTTCCATCTGTCTC TAAATCATTAGTATCCTTCTGTATCTCAGTTACAACTTTTAACTTTGTAG GAAAGAACAACGTTCACTTCAGACTTAATGGTTTATGTTTCTCAGTTCCT TCAGGCAAGGGAAAATGTTTCCAGAATTTGATAAGGTACTTGGTACTGTC TGGCATTTAAATTTTTTTTTTTTTTTCCAGACATAGTCTCACTCTGTCAC CCAGGCGAGAGTACGGTGGTGCGATCTCAGCTTACTGCAACCCCCACCTC CTGGGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACAA CCAAGCCCGGCTAATTTTTGTATCTTTAGTAGAGATGGGGTTTCATCATG TTGGCCAGGCTGGTCTCAAACTCCTGACTCCATGTGATCCACCTGCCTCA GCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGTCCACAGCCTGA AATGTATTTTATTTAATTAGTTGCTGTGAGGTATGAACATTCCTGTGAGG TATGAACCTCATTTGATAATAGGTAAAATTGAAAATGAAGCTCTGGGCCA TGTAGAAAAGTAGTAGATC	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02976.hp2 NA19043.hp1 NA20129.hp2 HG02976.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0027 a0001c0001t0011 a0001c0001t0027	a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0027g0003 a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0027g0003	3	324	0.0093	-1518	c.-10 others(14): Show c.-1093_-469+893del		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT4_chr5_75020346_75057558	75052168	CAT CAT	C C	splice_region_variant splice_region_variant	LOW	HG00558.hp1 HG00609.hp2 HG00735.hp2 others(40): Show HG00558.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02735.hp1 HG02895.hp1 HG03225.hp2 HG03540.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18956.hp2 NA18959.hp2 NA18986.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0005 a0001c0001t0016 a0001c0001t0069 others(8): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0069 a0001c0001t0072 a0002c0002t0026 a0002c0002t0027 a0002c0002t0040 a0002c0002t0041 a0002c0002t0070 a0002c0002t0071 a0004c0004t0041	a0001c0001t0005g0002 a0001c0001t0005g0062 a0001c0001t0005g0063 others(31): Show a0001c0001t0005g0002 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0016g0005 a0001c0001t0016g0011 a0001c0001t0016g0066 a0001c0001t0016g0067 a0001c0001t0069g0071 a0001c0001t0072g0318 a0002c0002t0026g0082 a0002c0002t0026g0085 a0002c0002t0026g0086 a0002c0002t0027g0087 a0002c0002t0027g0088 a0002c0002t0027g0089 a0002c0002t0040g0013 a0002c0002t0041g0081 a0002c0002t0070g0084 a0002c0002t0071g0083 a0004c0004t0041g0095	43	382	0.1126	-2	c.-14 others(11): Show c.-144_-143delAT		GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	2/4					chr5	TogoVar
GCSAML_chr1_247544134_247582690	247549225	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	412	0.0024	0	c.29+ others(4): Show c.29+5G>A		GCSAML	ENSG00000169224.13	transcript	ENST00000366488.5	protein_coding	1/4					chr1	TogoVar
GDAP2_chr1_117858485_117934621	117906581	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp2 HG02622.hp2 HG02818.hp2 others(5): Show HG02258.hp2 HG02622.hp2 HG02818.hp2 HG02976.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0026 a0001c0003t0027 a0001c0003t0017 a0001c0003t0026 a0001c0003t0027	a0001c0003t0017g0229 a0001c0003t0017g0230 a0001c0003t0017g0232 others(4): Show a0001c0003t0017g0229 a0001c0003t0017g0230 a0001c0003t0017g0232 a0001c0003t0017g0233 a0001c0003t0026g0231 a0001c0003t0026g0234 a0001c0003t0027g0048	8	364	0.0220	0	c.561 others(3): Show c.561C>G	p.Arg others(6): Show p.Arg187Arg	GDAP2	ENSG00000196505.11	transcript	ENST00000369443.10	protein_coding	6/14	802/8819	561/1494	187/497		chr1	TogoVar
GDA_chr9_72144440_72257224	72225670	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01070.hp1 HG01071.hp2 others(8): Show HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG02257.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0001 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0006g0001 others(7): Show a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0006g0001 a0001c0001t0006g0006 a0001c0001t0006g0284 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0015g0006 a0001c0001t0015g0288	11	312	0.0353	0	c.715 others(5): Show c.715-7C>A		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	7/13					chr9	TogoVar
GDA_chr9_72144440_72257224	72227935	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00741.hp1 HG01433.hp2 others(1): Show HG00738.hp1 HG00741.hp1 HG01433.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0054	4	312	0.0128	0	c.823 others(5): Show c.823-8C>T		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	8/13					chr9	TogoVar
GDA_chr9_72144440_72257224	72231188	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(106): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02683.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19076.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(103): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0002g0023 a0001c0001t0002g0269 a0001c0001t0002g0297 a0001c0001t0005g0002 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0046 a0001c0001t0005g0052 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0008g0254 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0018g0294 a0001c0001t0018g0295 a0001c0001t0019g0007 a0001c0001t0019g0008 a0001c0001t0022g0056 a0001c0001t0029g0055 a0001c0001t0030g0027 a0001c0001t0033g0022	109	312	0.3494	0	c.988 others(5): Show c.988+7A>G		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	10/13					chr9	TogoVar
GDF1_chr19_18863545_18901158	18869398	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	380	0.0026	0	c.326 others(5): Show c.326-8C>T		GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding	7/7					chr19	TogoVar
GDF9_chr5_132856185_132871469	132862556	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18976.hp2 NA18976.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0020 a0005c0007t0020	a0005c0007t0020g0039 a0005c0007t0020g0039	1	464	0.0022	0	c.398 others(3): Show c.398G>A	p.Gly others(6): Show p.Gly133Glu	GDF9	ENSG00000164404.9	transcript	ENST00000687138.1	protein_coding	2/2	2334/3705	398/1365	133/454		chr5	TogoVar
GDF9_chr5_132856185_132871469	132862559	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18976.hp2 NA18976.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0020 a0005c0007t0020	a0005c0007t0020g0039 a0005c0007t0020g0039	1	464	0.0022	0	c.398 others(5): Show c.398-3T>A		GDF9	ENSG00000164404.9	transcript	ENST00000687138.1	protein_coding	1/1					chr5	TogoVar
GDI1_chrX_154432154_154448467	154438756	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp1 NA18977.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0023 a0006c0009t0001g0023	1	283	0.0035	-1	c.154 others(6): Show c.154-8delG		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	2/10					chrX	TogoVar
GDI1_chrX_154432154_154448467	154440375	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	283	0.0035	0	c.588 others(3): Show c.588C>T	p.Asp others(6): Show p.Asp196Asp	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	6/11	689/2240	588/1344	196/447		chrX	TogoVar
GDI1_chrX_154432154_154448467	154441090	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp1 NA19006.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0024 a0005c0008t0005g0024	1	283	0.0035	1	c.720 others(12): Show c.720-6_720-5insA		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	6/10					chrX	TogoVar

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