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
GAB4_chr22_16956936_17013222	17007933	C C	CG CG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(365): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 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 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 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 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(18): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0023 a0001c0024 a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0003c0004 a0003c0020 a0004c0006 a0005c0011 a0006c0015 a0007c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0003t0003 a0001c0003t0009 a0001c0005t0005 a0001c0007t0004 a0001c0010t0004 a0001c0018t0002 a0001c0023t0003 a0001c0024t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0003c0004t0003 a0003c0020t0003 a0004c0006t0006 a0005c0011t0001 a0006c0015t0006 a0007c0019t0002	a0001c0001t0001g0029 a0001c0001t0001g0098 a0001c0001t0001g0115 others(200): Show a0001c0001t0001g0029 a0001c0001t0001g0098 a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0153 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0048 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0121 a0001c0001t0003g0152 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0042 a0001c0001t0004g0059 a0001c0001t0004g0069 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0010g0110 a0001c0001t0010g0154 a0001c0001t0011g0113 a0001c0001t0012g0096 a0001c0003t0003g0107 a0001c0003t0003g0205 a0001c0003t0009g0238 a0001c0003t0009g0239 a0001c0003t0009g0240 a0001c0005t0005g0022 a0001c0005t0005g0046 a0001c0005t0005g0047 a0001c0005t0005g0079 a0001c0005t0005g0091 a0001c0005t0005g0097 a0001c0007t0004g0023 a0001c0010t0004g0206 a0001c0010t0004g0207 a0001c0010t0004g0208 a0001c0018t0002g0136 a0001c0023t0003g0138 a0001c0024t0005g0235 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0158 a0002c0002t0004g0183 a0002c0002t0004g0201 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0167 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0159 a0002c0014t0003g0166 a0002c0017t0001g0076 a0002c0021t0001g0176 a0002c0022t0001g0178 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0020t0003g0092 a0004c0006t0006g0018 a0004c0006t0006g0056 a0004c0006t0006g0057 a0004c0006t0006g0142 a0004c0006t0006g0144 a0005c0011t0001g0077 a0005c0011t0001g0078 a0006c0015t0006g0236 a0006c0015t0006g0237 a0007c0019t0002g0124	368	430	0.8558	1	c.174 others(12): Show c.174+7_174+8insC		GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	1/9					chr22	TogoVar
GABARAPL2_chr16_75561379_75582881	75566844	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	368	0.0027	0	c.35- others(4): Show c.35-8T>G		GABARAPL2	ENSG00000034713.8	transcript	ENST00000037243.7	protein_coding	1/3					chr16	TogoVar
GABBR1_chr6_29597238_29638183	29607226	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(87): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19056.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0002c0004	a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 others(8): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0003t0011 a0001c0009t0017 a0001c0010t0003 a0001c0011t0002 a0002c0004t0003	a0001c0002t0002g0003 a0001c0002t0002g0047 a0001c0002t0002g0048 others(51): Show a0001c0002t0002g0003 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0243 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0244 a0001c0002t0019g0248 a0001c0003t0002g0016 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0004g0017 a0001c0003t0004g0018 a0001c0003t0004g0027 a0001c0003t0004g0028 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0010g0063 a0001c0003t0011g0066 a0001c0009t0017g0246 a0001c0010t0003g0200 a0001c0011t0002g0223 a0002c0004t0003g0005 a0002c0004t0003g0025 a0002c0004t0003g0045 a0002c0004t0003g0202 a0002c0004t0003g0203 a0002c0004t0003g0204 a0002c0004t0003g0205 a0002c0004t0003g0206 a0002c0004t0003g0207	90	407	0.2211	0	c.199 others(6): Show c.1993-8C>T		GABBR1	ENSG00000204681.11	transcript	ENST00000377034.9	protein_coding	16/22					chr6	TogoVar
GABBR1_chr6_29597238_29638183	29623890	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0086 a0001c0008t0001g0086	1	407	0.0025	0	c.792 others(3): Show c.792G>A	p.Val others(6): Show p.Val264Val	GABBR1	ENSG00000204681.11	transcript	ENST00000377034.9	protein_coding	7/23	1126/4525	792/2886	264/961		chr6	TogoVar
GABBR1_chr6_29597238_29638183	29632843	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG03831.hp2 HG04184.hp2 HG02622.hp1 HG03831.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0016	3	407	0.0074	0	c.-1+ others(4): Show c.-1+7G>A		GABBR1	ENSG00000204681.11	transcript	ENST00000377034.9	protein_coding	1/22					chr6	TogoVar
GABBR2_chr9_98283109_98713935	98299357	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00621.hp1 HG00621.hp2 others(32): Show HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01975.hp1 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02602.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03239.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18952.hp1 NA18955.hp1 NA18963.hp2 NA18969.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0015 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0011 a0002c0016 a0002c0022 a0002c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0013t0003 a0001c0015t0001 a0002c0006t0004 a0002c0006t0007 a0002c0008t0004 a0002c0008t0007 a0002c0008t0020 a0002c0009t0004 a0002c0009t0007 a0002c0010t0004 a0002c0010t0007 a0002c0011t0004 a0002c0016t0027 a0002c0016t0044 a0002c0022t0029 a0002c0023t0004	a0001c0001t0001g0150 a0001c0001t0003g0030 a0001c0002t0001g0137 others(32): Show a0001c0001t0001g0150 a0001c0001t0003g0030 a0001c0002t0001g0137 a0001c0002t0001g0162 a0001c0002t0003g0026 a0001c0003t0001g0087 a0001c0003t0001g0099 a0001c0003t0001g0142 a0001c0003t0008g0089 a0001c0013t0003g0066 a0001c0015t0001g0076 a0001c0015t0001g0135 a0002c0006t0004g0145 a0002c0006t0004g0148 a0002c0006t0007g0006 a0002c0006t0007g0024 a0002c0006t0007g0031 a0002c0006t0007g0033 a0002c0008t0004g0086 a0002c0008t0004g0120 a0002c0008t0004g0161 a0002c0008t0007g0059 a0002c0008t0020g0085 a0002c0009t0004g0113 a0002c0009t0007g0035 a0002c0010t0004g0082 a0002c0010t0004g0105 a0002c0010t0007g0028 a0002c0010t0007g0032 a0002c0011t0004g0122 a0002c0011t0004g0125 a0002c0016t0027g0048 a0002c0016t0044g0134 a0002c0022t0029g0060 a0002c0023t0004g0129	35	164	0.2134	0	c.241 others(6): Show c.2413-4G>C		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	16/18					chr9	TogoVar
GABBR2_chr9_98283109_98713935	98481005	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	164	0.0061	0	c.733 others(5): Show c.733-8A>T		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	4/18					chr9	TogoVar
GABBR2_chr9_98283109_98713935	98496521	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00741.hp1 HG01081.hp2 others(40): Show HG00099.hp2 HG00741.hp1 HG01081.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04199.hp2 NA18906.hp1 NA18952.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18982.hp1 NA18994.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0013 a0002c0004 a0002c0006 a0002c0010 a0002c0011 a0002c0012 a0002c0014 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(30): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0021 a0001c0001t0030 a0001c0001t0042 a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0003t0022 a0001c0005t0001 a0001c0005t0003 a0001c0005t0014 a0001c0005t0031 a0001c0007t0011 a0001c0007t0033 a0001c0013t0017 a0001c0013t0024 a0002c0004t0002 a0002c0004t0006 a0002c0004t0036 a0002c0006t0007 a0002c0010t0007 a0002c0011t0002 a0002c0011t0004 a0002c0012t0006 a0002c0014t0002 a0002c0016t0027 a0002c0016t0044 a0002c0017t0002	a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0149 others(40): Show a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0008g0107 a0001c0001t0010g0044 a0001c0001t0011g0055 a0001c0001t0019g0126 a0001c0001t0021g0106 a0001c0001t0030g0003 a0001c0001t0042g0098 a0001c0002t0001g0140 a0001c0002t0001g0157 a0001c0002t0008g0103 a0001c0002t0012g0097 a0001c0003t0001g0087 a0001c0003t0022g0083 a0001c0005t0001g0070 a0001c0005t0003g0054 a0001c0005t0014g0034 a0001c0005t0014g0040 a0001c0005t0031g0002 a0001c0007t0011g0007 a0001c0007t0033g0005 a0001c0013t0017g0053 a0001c0013t0024g0010 a0002c0004t0002g0008 a0002c0004t0002g0021 a0002c0004t0002g0043 a0002c0004t0002g0056 a0002c0004t0006g0112 a0002c0004t0036g0046 a0002c0006t0007g0024 a0002c0010t0007g0028 a0002c0011t0002g0016 a0002c0011t0004g0122 a0002c0011t0004g0125 a0002c0012t0006g0079 a0002c0014t0002g0050 a0002c0014t0002g0051 a0002c0016t0027g0048 a0002c0016t0044g0134 a0002c0017t0002g0019 a0002c0017t0002g0038	43	164	0.2622	0	c.631 others(5): Show c.631-7C>T		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	3/18					chr9	TogoVar
GABPA_chr21_25729972_25777460	25764791	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG02055.hp1 HG02258.hp2 others(22): Show HG01346.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03209.hp2 NA18949.hp2 NA18952.hp2 NA18967.hp2 NA18972.hp1 NA18987.hp1 NA18995.hp2 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19074.hp1 NA19075.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0003g0008 a0001c0001t0003g0056 a0001c0001t0003g0057 others(16): Show a0001c0001t0003g0008 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0233 a0001c0001t0009g0225 a0001c0001t0009g0226 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0234 a0001c0001t0010g0061 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0001t0010g0232	25	376	0.0665	0	c.113 others(6): Show c.1136+4A>T		GABPA	ENSG00000154727.11	transcript	ENST00000400075.4	protein_coding	9/9					chr21	TogoVar
GABPB1_chr15_50270389_50360198	50289476	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0124 a0001c0001t0008g0124	1	366	0.0027	0	c.883 others(5): Show c.883+7A>G		GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	7/8					chr15	TogoVar
GABPB2_chr1_151065761_151130542	151107029	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	264	0.0038	0	c.737 others(5): Show c.737-8A>G		GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	6/8					chr1	TogoVar
GABPB2_chr1_151065761_151130542	151125540	C C	A A	splice_region_variant splice_region_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0042 a0001c0001t0047g0042	1	264	0.0038	0	c.72 others(5): Show c.7284C>A		GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	9/9					chr1	TogoVar
GABRA1_chr5_161843120_161904971	161848430	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0029 a0001c0001t0009g0030 a0001c0001t0001g0029 a0001c0001t0009g0030	2	394	0.0051	0	c.-16 others(5): Show c.-16+8C>A		GABRA1	ENSG00000022355.18	transcript	ENST00000393943.10	protein_coding	1/9					chr5	TogoVar
GABRA2_chr4_46238548_46395128	46332685	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19059.hp2 NA19064.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 others(83): Show a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037 a0001c0001t0056 a0001c0001t0066 a0001c0001t0095 a0001c0001t0123 a0001c0001t0125 a0001c0001t0136 a0001c0001t0141 a0001c0001t0142 a0001c0001t0172 a0001c0001t0178 a0001c0001t0179 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0032 a0001c0002t0034 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0046 a0001c0002t0052 a0001c0002t0053 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0067 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0081 a0001c0002t0086 a0001c0002t0090 a0001c0002t0094 a0001c0002t0101 a0001c0002t0105 a0001c0002t0109 a0001c0002t0120 a0001c0002t0124 a0001c0002t0131 a0001c0002t0145 a0001c0002t0149 a0001c0002t0156 a0001c0002t0161 a0001c0002t0162 a0001c0002t0163 a0001c0002t0167 a0001c0002t0168 a0001c0002t0173 a0001c0002t0180 a0001c0002t0181 a0001c0002t0182 a0001c0002t0183 a0001c0002t0185 a0001c0002t0186 a0001c0002t0187 a0001c0002t0188 a0001c0002t0190 a0001c0002t0191 a0001c0002t0193 a0001c0002t0195 a0001c0002t0196 a0001c0002t0197 a0001c0002t0198	a0001c0001t0010g0109 a0001c0001t0024g0112 a0001c0001t0026g0127 others(107): Show a0001c0001t0010g0109 a0001c0001t0024g0112 a0001c0001t0026g0127 a0001c0001t0028g0139 a0001c0001t0031g0162 a0001c0001t0031g0163 a0001c0001t0037g0203 a0001c0001t0056g0030 a0001c0001t0066g0040 a0001c0001t0095g0081 a0001c0001t0123g0136 a0001c0001t0125g0141 a0001c0001t0136g0153 a0001c0001t0141g0158 a0001c0001t0142g0159 a0001c0001t0172g0208 a0001c0001t0178g0227 a0001c0001t0179g0230 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0004g0237 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0005g0010 a0001c0002t0005g0013 a0001c0002t0006g0024 a0001c0002t0006g0025 a0001c0002t0006g0028 a0001c0002t0011g0185 a0001c0002t0011g0186 a0001c0002t0012g0201 a0001c0002t0012g0204 a0001c0002t0012g0205 a0001c0002t0013g0211 a0001c0002t0013g0212 a0001c0002t0013g0213 a0001c0002t0014g0223 a0001c0002t0014g0228 a0001c0002t0014g0229 a0001c0002t0015g0014 a0001c0002t0015g0015 a0001c0002t0016g0017 a0001c0002t0016g0020 a0001c0002t0017g0022 a0001c0002t0017g0023 a0001c0002t0032g0173 a0001c0002t0034g0180 a0001c0002t0036g0196 a0001c0002t0036g0198 a0001c0002t0038g0206 a0001c0002t0038g0207 a0001c0002t0039g0224 a0001c0002t0039g0225 a0001c0002t0040g0234 a0001c0002t0040g0235 a0001c0002t0041g0002 a0001c0002t0042g0003 a0001c0002t0046g0007 a0001c0002t0052g0019 a0001c0002t0053g0021 a0001c0002t0057g0029 a0001c0002t0058g0031 a0001c0002t0060g0032 a0001c0002t0062g0035 a0001c0002t0063g0036 a0001c0002t0064g0037 a0001c0002t0065g0038 a0001c0002t0067g0041 a0001c0002t0069g0042 a0001c0002t0070g0043 a0001c0002t0071g0045 a0001c0002t0072g0044 a0001c0002t0073g0046 a0001c0002t0081g0053 a0001c0002t0086g0057 a0001c0002t0090g0066 a0001c0002t0094g0070 a0001c0002t0101g0083 a0001c0002t0105g0099 a0001c0002t0109g0110 a0001c0002t0120g0126 a0001c0002t0124g0135 a0001c0002t0131g0146 a0001c0002t0145g0164 a0001c0002t0149g0168 a0001c0002t0156g0175 a0001c0002t0161g0192 a0001c0002t0162g0191 a0001c0002t0163g0189 a0001c0002t0167g0197 a0001c0002t0168g0202 a0001c0002t0173g0219 a0001c0002t0180g0231 a0001c0002t0181g0233 a0001c0002t0182g0232 a0001c0002t0183g0236 a0001c0002t0185g0239 a0001c0002t0186g0238 a0001c0002t0187g0244 a0001c0002t0188g0245 a0001c0002t0190g0248 a0001c0002t0191g0247 a0001c0002t0193g0250 a0001c0002t0195g0253 a0001c0002t0196g0252 a0001c0002t0197g0254 a0001c0002t0198g0255	110	258	0.4264	0	c.188 others(5): Show c.188-3T>C		GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9					chr4	TogoVar
GABRA5_chr15_26862062_26954208	26949207	G G	A A	splice_region_variant splice_region_variant	LOW	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	376	0.0027	0	c.97 others(4): Show c.974G>A		GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	11/11					chr15	TogoVar
GABRA6_chr5_161680721_161707592	161689782	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	424	0.0024	0	c.673 others(5): Show c.673+3A>G		GABRA6	ENSG00000145863.11	transcript	ENST00000274545.10	protein_coding	6/8					chr5	TogoVar
GABRB1_chr4_47026567_47431447	47426445	A A	C C	splice_region_variant splice_region_variant	LOW	HG03490.hp2 HG04199.hp1 HG03490.hp2 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0052 a0001c0003t0011g0056 a0001c0003t0011g0052 a0001c0003t0011g0056	2	158	0.0127	0	c.42 others(4): Show c.427A>C		GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	9/9					chr4	TogoVar
GABRD_chr1_2014345_2035758	2028291	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0031 a0001c0010t0001g0031	1	364	0.0028	0	c.690 others(3): Show c.690C>T	p.Ser others(6): Show p.Ser230Ser	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding	6/9	769/1914	690/1359	230/452		chr1	TogoVar
GABRE_chrX_151948124_151979676	151959832	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	326	0.0031	0	c.784 others(5): Show c.784+7G>A		GABRE	ENSG00000102287.19	transcript	ENST00000370328.4	protein_coding	6/8					chrX	TogoVar
GABRG2_chr5_162062773_162160526	162104025	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0112 a0001c0010t0003g0112	1	328	0.0031	0	c.768 others(3): Show c.768C>T	p.Ser others(6): Show p.Ser256Ser	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/10	995/3813	768/1428	256/475		chr5	TogoVar
GABRG3_chr15_26966181_27546984	27026829	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02717.hp2 HG01243.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0002 a0001c0012t0003 a0001c0004t0002 a0001c0012t0003	a0001c0004t0002g0015 a0001c0012t0003g0068 a0001c0004t0002g0015 a0001c0012t0003g0068	2	92	0.0217	0	c.270 others(5): Show c.270+8G>A		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					chr15	TogoVar
GABRP_chr5_170778725_170819047	170783874	G G	A A	splice_region_variant splice_region_variant	LOW	NA18942.hp2 NA19070.hp2 NA18942.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	2	362	0.0055	0	c.-43 others(3): Show c.-43G>A		GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	1/10					chr5	TogoVar
GABRP_chr5_170778725_170819047	170788570	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0115 a0003c0007t0001g0115	1	362	0.0028	0	c.-42 others(5): Show c.-42-4C>T		GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	1/9					chr5	TogoVar
GABRP_chr5_170778725_170819047	170788666	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(100): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18947.hp1 NA18954.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18981.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19082.hp1 NA19083.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0010 a0011	a0001c0003 a0001c0005 a0002c0004 others(5): Show a0001c0003 a0001c0005 a0002c0004 a0002c0008 a0004c0006 a0005c0010 a0010c0011 a0011c0012	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(28): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0016 a0001c0003t0017 a0001c0003t0027 a0001c0003t0037 a0001c0003t0038 a0001c0003t0039 a0001c0005t0004 a0001c0005t0010 a0001c0005t0018 a0001c0005t0019 a0001c0005t0026 a0002c0004t0003 a0002c0004t0007 a0002c0004t0014 a0002c0004t0021 a0002c0004t0024 a0002c0004t0025 a0002c0004t0035 a0002c0004t0040 a0002c0008t0023 a0002c0008t0036 a0004c0006t0001 a0004c0006t0002 a0005c0010t0002 a0010c0011t0002 a0011c0012t0002	a0001c0003t0001g0003 a0001c0003t0002g0003 a0001c0003t0002g0039 others(71): Show a0001c0003t0001g0003 a0001c0003t0002g0003 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0092 a0001c0003t0002g0110 a0001c0003t0002g0127 a0001c0003t0002g0130 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0153 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0007g0116 a0001c0003t0009g0118 a0001c0003t0009g0120 a0001c0003t0009g0121 a0001c0003t0010g0123 a0001c0003t0016g0036 a0001c0003t0016g0125 a0001c0003t0017g0038 a0001c0003t0017g0146 a0001c0003t0027g0058 a0001c0003t0037g0131 a0001c0003t0038g0124 a0001c0003t0039g0147 a0001c0005t0004g0013 a0001c0005t0004g0059 a0001c0005t0010g0035 a0001c0005t0010g0037 a0001c0005t0010g0129 a0001c0005t0010g0139 a0001c0005t0018g0090 a0001c0005t0018g0091 a0001c0005t0019g0027 a0001c0005t0019g0061 a0001c0005t0026g0027 a0002c0004t0003g0026 a0002c0004t0003g0057 a0002c0004t0003g0062 a0002c0004t0007g0019 a0002c0004t0007g0034 a0002c0004t0007g0117 a0002c0004t0014g0020 a0002c0004t0014g0211 a0002c0004t0021g0119 a0002c0004t0024g0084 a0002c0004t0025g0145 a0002c0004t0025g0154 a0002c0004t0035g0122 a0002c0004t0040g0212 a0002c0008t0023g0060 a0002c0008t0023g0068 a0002c0008t0036g0126 a0004c0006t0001g0003 a0004c0006t0002g0003 a0004c0006t0002g0152 a0005c0010t0002g0128 a0010c0011t0002g0111 a0011c0012t0002g0151	103	362	0.2845	0	c.51G others(2): Show c.51G>A	p.Glu others(5): Show p.Glu17Glu	GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	2/10	243/3304	51/1323	17/440		chr5	TogoVar
GABRP_chr5_170778725_170819047	170794303	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(4): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 NA18974.hp1 NA18995.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0071 a0002c0002t0005g0072 others(2): Show a0002c0002t0005g0014 a0002c0002t0005g0071 a0002c0002t0005g0072 a0002c0002t0005g0073 a0002c0002t0005g0074	7	362	0.0193	0	c.240 others(5): Show c.240+5G>A		GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	4/9					chr5	TogoVar
GABRQ_chrX_152632895_152662542	152649243	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	298	0.0034	0	c.528 others(5): Show c.528-8C>A		GABRQ	ENSG00000268089.3	transcript	ENST00000598523.3	protein_coding	4/8					chrX	TogoVar
GABRR1_chr6_89172504_89222358	89203490	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp2 HG00621.hp1 others(18): Show HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02523.hp1 HG02523.hp2 HG03654.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA19068.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0009 others(18): Show a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0003t0002g0006 a0001c0003t0002g0017	21	25	0.8400	0	c.123 others(5): Show c.123-5G>A		GABRR1	ENSG00000146276.13	transcript	ENST00000454853.7	protein_coding	1/9					chr6	TogoVar
GABRR3_chr3_97980102_98040315	98007903	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp2 NA18942.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0026 a0002c0007t0002	a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0003g0029 a0002c0002t0003g0044 a0002c0002t0003g0051 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0003g0166 a0002c0002t0006g0039 a0002c0002t0006g0059 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0168 a0002c0002t0008g0226 a0002c0002t0008g0269 a0002c0002t0008g0272 a0002c0002t0008g0273 a0002c0002t0013g0037 a0002c0002t0013g0167 a0002c0002t0014g0046 a0002c0002t0014g0054 a0002c0002t0015g0330 a0002c0002t0018g0021 a0002c0002t0020g0061 a0002c0002t0026g0341 a0002c0007t0002g0065	46	382	0.1204	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	7/10	743/3113	615/1404	205/467		chr3	TogoVar
GABRR3_chr3_97980102_98040315	98017728	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	382	0.0026	0	c.239 others(5): Show c.239-6C>G		GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	3/9					chr3	TogoVar
GABRR3_chr3_97980102_98040315	98025567	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02486.hp1 HG02723.hp1 HG03225.hp2 others(1): Show HG02486.hp1 HG02723.hp1 HG03225.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0009 a0003c0003t0001 a0003c0003t0004 a0003c0003t0009	a0003c0003t0001g0205 a0003c0003t0004g0202 a0003c0003t0009g0201 others(1): Show a0003c0003t0001g0205 a0003c0003t0004g0202 a0003c0003t0009g0201 a0003c0003t0009g0203	4	382	0.0105	0	c.238 others(3): Show c.238G>A	p.Gly others(5): Show p.Gly80Arg	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	3/10	366/3113	238/1404	80/467		chr3	TogoVar
GABRR3_chr3_97980102_98040315	98035190	C C	G G	splice_region_variant splice_region_variant	LOW	HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0012g0024 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0012g0024	3	382	0.0079	0	c.-3G others(2): Show c.-3G>C		GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	1/10					chr3	TogoVar
GAD1_chr2_170811887_170866151	170818671	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp1 HG02040.hp1 NA18942.hp1 others(2): Show HG00408.hp1 HG02040.hp1 NA18942.hp1 NA18975.hp2 NA19085.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0078 a0003c0006t0002g0082 a0003c0006t0002g0083 others(2): Show a0003c0006t0002g0078 a0003c0006t0002g0082 a0003c0006t0002g0083 a0003c0006t0002g0124 a0003c0006t0002g0177	5	412	0.0121	0	c.80C others(2): Show c.80C>A	p.Thr others(5): Show p.Thr27Lys	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	2/17	305/3279	80/1785	27/594		chr2	TogoVar
GAD1_chr2_170811887_170866151	170822155	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp1 NA18987.hp1 NA18982.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0037 a0001c0002t0001g0056	2	412	0.0049	0	c.145 others(5): Show c.145+6T>C		GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16					chr2	TogoVar
GAD1_chr2_170811887_170866151	170849355	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	412	0.0024	0	c.118 others(6): Show c.1184+5C>T		GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	12/16					chr2	TogoVar
GAD2_chr10_26211774_26309558	26216893	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp1 HG00558.hp2 others(98): Show HG00140.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18993.hp1 NA18997.hp1 NA18999.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0038 a0001c0001t0002g0056 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0097 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0039 a0001c0001t0006g0079 a0001c0001t0008g0013 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0009g0003 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0100 a0001c0001t0012g0062 a0001c0001t0014g0059 a0001c0001t0015g0101 a0001c0001t0017g0012 a0001c0001t0024g0075 a0001c0001t0026g0098 a0001c0002t0004g0031	101	294	0.3435	0	c.76+ others(4): Show c.76+8G>A		GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	1/15					chr10	TogoVar
GAD2_chr10_26211774_26309558	26224539	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0029 a0004c0006t0029	a0004c0006t0029g0117 a0004c0006t0029g0117	1	294	0.0034	0	c.612 others(3): Show c.612G>A	p.Met others(6): Show p.Met204Ile	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	6/16	648/5391	612/1758	204/585		chr10	TogoVar
GAD2_chr10_26211774_26309558	26246008	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00544.hp2 HG00639.hp2 others(15): Show HG00323.hp2 HG00544.hp2 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG02004.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp2 HG03831.hp1 NA18960.hp2 NA18965.hp1 NA18988.hp1 NA19074.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0004 a0001c0002t0030 a0004c0006t0029 a0001c0002t0004 a0001c0002t0030 a0004c0006t0029	a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0031 others(13): Show a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0031 a0001c0002t0004g0115 a0001c0002t0004g0116 a0001c0002t0004g0118 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0239 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0030g0114 a0004c0006t0029g0117	18	294	0.0612	0	c.920 others(5): Show c.920+8C>T		GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	8/15					chr10	TogoVar
GAD2_chr10_26211774_26309558	26270642	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00323.hp2 HG00544.hp2 HG00639.hp2 others(15): Show HG00323.hp2 HG00544.hp2 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG02004.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp2 HG03831.hp1 NA18960.hp2 NA18965.hp1 NA18988.hp1 NA19074.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0004 a0001c0002t0030 a0004c0006t0029 a0001c0002t0004 a0001c0002t0030 a0004c0006t0029	a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0031 others(13): Show a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0031 a0001c0002t0004g0115 a0001c0002t0004g0116 a0001c0002t0004g0118 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0239 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0030g0114 a0004c0006t0029g0117	18	294	0.0612	0	c.978 others(3): Show c.978G>C	p.Gly others(6): Show p.Gly326Gly	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	10/16	1014/5391	978/1758	326/585		chr10	TogoVar
GADL1_chr3_30721197_30899661	30778146	CAAAAAGA others(149): Show CAAAAAGAAAAATACCATTTACTTATTACTTACCAAATTAAGTTTTGCCC AGAACTCGGGTCCTTCTTCCATCTCTCTGAGGCTCGGTGGAATGTACCAA AAGCAAATATTGGCATATTCAGGCTGAGAATTAGAAAAAATATAAAGTTG TTATCTT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19002.hp1 NA19002.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0269 a0008c0011t0003g0269	1	282	0.0036	-156	c.130 others(15): Show c.1303-34_1392+32del		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/15					chr3	TogoVar
GADL1_chr3_30721197_30899661	30778174	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG03041.hp2 NA18906.hp2 HG02647.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0111 a0001c0001t0002g0211 a0001c0001t0002g0020 a0001c0001t0002g0111 a0001c0001t0002g0211	3	282	0.0106	1	c.139 others(7): Show c.1392+4dupA		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14					chr3	TogoVar
GADL1_chr3_30721197_30899661	30778273	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG02109.hp1 HG02258.hp2 others(31): Show HG01167.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0003 a0005c0005 a0001c0001 a0004c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0031 a0001c0001t0038 a0004c0003t0005 a0005c0005t0027	a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0174 others(31): Show a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0002g0215 a0001c0001t0003g0103 a0001c0001t0004g0014 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0123 a0001c0001t0004g0132 a0001c0001t0004g0154 a0001c0001t0004g0178 a0001c0001t0004g0191 a0001c0001t0005g0183 a0001c0001t0005g0188 a0001c0001t0005g0197 a0001c0001t0005g0202 a0001c0001t0005g0222 a0001c0001t0005g0226 a0001c0001t0007g0077 a0001c0001t0007g0225 a0001c0001t0008g0101 a0001c0001t0013g0185 a0001c0001t0013g0186 a0001c0001t0017g0001 a0001c0001t0022g0240 a0001c0001t0031g0108 a0001c0001t0038g0112 a0004c0003t0005g0008 a0004c0003t0005g0118 a0005c0005t0027g0002	34	282	0.1206	0	c.130 others(6): Show c.1303-5C>A		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	13/14					chr3	TogoVar
GADL1_chr3_30721197_30899661	30786406	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0029 a0001c0008t0029	a0001c0008t0029g0059 a0001c0008t0029g0059	1	282	0.0036	0	c.125 others(4): Show c.1251G>A	p.Arg others(6): Show p.Arg417Arg	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	13/15	1298/3658	1251/1566	417/521		chr3	TogoVar
GADL1_chr3_30721197_30899661	30786412	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(124): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp2 HG01167.hp1 HG01255.hp2 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0010	a0001c0001 a0002c0002 a0004c0003 others(3): Show a0001c0001 a0002c0002 a0004c0003 a0005c0005 a0008c0011 a0010c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0002c0002t0001 a0002c0002t0003 a0004c0003t0005 a0005c0005t0027 a0008c0011t0003 a0010c0006t0040	a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0052 others(124): Show a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0203 a0001c0001t0002g0215 a0001c0001t0002g0256 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0085 a0001c0001t0003g0103 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0208 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0262 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0123 a0001c0001t0004g0132 a0001c0001t0004g0154 a0001c0001t0004g0178 a0001c0001t0004g0191 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0005g0183 a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0197 a0001c0001t0005g0202 a0001c0001t0005g0222 a0001c0001t0005g0226 a0001c0001t0006g0016 a0001c0001t0006g0053 a0001c0001t0006g0066 a0001c0001t0006g0097 a0001c0001t0006g0124 a0001c0001t0006g0133 a0001c0001t0006g0135 a0001c0001t0006g0204 a0001c0001t0006g0244 a0001c0001t0006g0257 a0001c0001t0007g0077 a0001c0001t0007g0225 a0001c0001t0008g0101 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0013g0185 a0001c0001t0013g0186 a0001c0001t0014g0015 a0001c0001t0015g0033 a0001c0001t0015g0040 a0001c0001t0016g0279 a0001c0001t0016g0280 a0001c0001t0017g0001 a0001c0001t0021g0012 a0001c0001t0022g0240 a0001c0001t0023g0247 a0001c0001t0024g0206 a0001c0001t0030g0003 a0001c0001t0031g0108 a0001c0001t0033g0065 a0001c0001t0034g0213 a0001c0001t0035g0141 a0001c0001t0036g0100 a0001c0001t0037g0021 a0001c0001t0038g0112 a0002c0002t0001g0087 a0002c0002t0003g0114 a0002c0002t0003g0216 a0002c0002t0003g0218 a0004c0003t0005g0008 a0004c0003t0005g0118 a0005c0005t0027g0002 a0008c0011t0003g0269 a0010c0006t0040g0282	127	282	0.4504	0	c.125 others(6): Show c.1251-6T>C		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	12/14					chr3	TogoVar
GAGE10_chrX_49298646_49324841	49317155	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0105 a0003c0003t0003g0105	1	302	0.0033	0	c.203 others(5): Show c.203-8T>A		GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding	3/4					chrX	TogoVar
GAGE10_chrX_49298646_49324841	49319730	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp1 HG00741.hp2 HG01070.hp2 others(11): Show HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01168.hp1 HG01884.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG06807.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0026 others(3): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0066 a0002c0002t0001g0074	14	302	0.0464	0	c.331 others(3): Show c.331G>A	p.Glu others(6): Show p.Glu111Lys	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding	5/5	447/558	331/351	111/116		chrX	TogoVar
GAGE12D_chrX_49536733_49554094	49543430	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03704.hp2 HG03704.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0056 a0009c0012t0001g0056	1	72	0.0139	-1	c.85- others(5): Show c.85-3delC		GAGE12D	ENSG00000227488.3	transcript	ENST00000405679.4	protein_coding	2/4				INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12D_chrX_49536733_49554094	49546371	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	72	0.0139	-1	c.206 others(6): Show c.206-4delT		GAGE12D	ENSG00000227488.3	transcript	ENST00000405679.4	protein_coding	3/4				INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12F_chrX_49555842_49573205	49562670	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0031 a0004c0004t0001g0031	1	99	0.0101	1	c.205 others(6): Show c.205+7dupG		GAGE12F	ENSG00000236362.9	transcript	ENST00000440137.2	protein_coding	3/4				INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12F_chrX_49555842_49573205	49565619	A A	AGGTAGG AGGTAGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19054.hp2 NA19054.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0061 a0014c0013t0001g0061	1	99	0.0101	6	c.331 others(15): Show c.331_331+5dupGGTAGG		GAGE12F	ENSG00000236362.9	transcript	ENST00000440137.2	protein_coding	4/4				INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12G_chrX_49565400_49582754	49577635	T T	TG TG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0079 a0003c0003t0009g0079	1	95	0.0105	1	c.332 others(12): Show c.332-6_332-5insG		GAGE12G	ENSG00000215269.6	transcript	ENST00000445148.2	protein_coding	4/4					chrX	TogoVar

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