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	distance	status	chr	external
GALNT6_chr12_51346252_51396406	51360845	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(191): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02895.hp1 HG03017.hp1 HG03098.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0017 a0001c0021 a0001c0022 a0006c0016 a0007c0013 a0009c0015	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(49): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0040 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0078 a0001c0001t0091 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0025 a0001c0002t0037 a0001c0002t0042 a0001c0002t0045 a0001c0002t0048 a0001c0002t0050 a0001c0002t0072 a0001c0002t0073 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009 a0001c0003t0044 a0001c0003t0070 a0001c0003t0074 a0001c0003t0077 a0001c0008t0003 a0001c0017t0069 a0001c0021t0075 a0001c0022t0003 a0006c0016t0007 a0007c0013t0014 a0009c0015t0006	a0001c0001t0003g0336 a0001c0001t0004g0006 a0001c0001t0004g0060 others(187): Show a0001c0001t0003g0336 a0001c0001t0004g0006 a0001c0001t0004g0060 a0001c0001t0004g0131 a0001c0001t0004g0171 a0001c0001t0004g0176 a0001c0001t0004g0194 a0001c0001t0005g0212 a0001c0001t0005g0279 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0038 a0001c0001t0006g0058 a0001c0001t0006g0062 a0001c0001t0006g0073 a0001c0001t0006g0076 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0180 a0001c0001t0006g0196 a0001c0001t0006g0202 a0001c0001t0007g0007 a0001c0001t0007g0009 a0001c0001t0007g0210 a0001c0001t0007g0217 a0001c0001t0007g0226 a0001c0001t0007g0228 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0295 a0001c0001t0007g0309 a0001c0001t0007g0326 a0001c0001t0007g0331 a0001c0001t0007g0350 a0001c0001t0007g0404 a0001c0001t0007g0408 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0239 a0001c0001t0009g0268 a0001c0001t0009g0269 a0001c0001t0009g0346 a0001c0001t0010g0118 a0001c0001t0012g0029 a0001c0001t0012g0042 a0001c0001t0012g0059 a0001c0001t0012g0065 a0001c0001t0012g0079 a0001c0001t0012g0090 a0001c0001t0012g0092 a0001c0001t0012g0125 a0001c0001t0012g0126 a0001c0001t0012g0148 a0001c0001t0012g0158 a0001c0001t0012g0174 a0001c0001t0012g0178 a0001c0001t0012g0181 a0001c0001t0012g0189 a0001c0001t0012g0200 a0001c0001t0013g0097 a0001c0001t0016g0211 a0001c0001t0016g0234 a0001c0001t0016g0258 a0001c0001t0016g0264 a0001c0001t0016g0265 a0001c0001t0016g0314 a0001c0001t0016g0386 a0001c0001t0018g0240 a0001c0001t0018g0292 a0001c0001t0018g0325 a0001c0001t0018g0344 a0001c0001t0020g0045 a0001c0001t0021g0039 a0001c0001t0021g0157 a0001c0001t0027g0311 a0001c0001t0027g0343 a0001c0001t0040g0104 a0001c0001t0043g0175 a0001c0001t0046g0144 a0001c0001t0047g0096 a0001c0001t0049g0138 a0001c0001t0051g0198 a0001c0001t0066g0183 a0001c0001t0067g0266 a0001c0001t0068g0299 a0001c0001t0071g0243 a0001c0001t0078g0229 a0001c0001t0091g0220 a0001c0002t0003g0238 a0001c0002t0003g0244 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0261 a0001c0002t0003g0267 a0001c0002t0003g0270 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0276 a0001c0002t0003g0281 a0001c0002t0003g0297 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0316 a0001c0002t0003g0317 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0003g0341 a0001c0002t0003g0348 a0001c0002t0003g0397 a0001c0002t0003g0403 a0001c0002t0004g0024 a0001c0002t0004g0077 a0001c0002t0007g0347 a0001c0002t0010g0005 a0001c0002t0010g0037 a0001c0002t0010g0040 a0001c0002t0010g0054 a0001c0002t0010g0091 a0001c0002t0010g0094 a0001c0002t0010g0095 a0001c0002t0010g0119 a0001c0002t0010g0147 a0001c0002t0010g0151 a0001c0002t0010g0159 a0001c0002t0010g0162 a0001c0002t0010g0167 a0001c0002t0010g0172 a0001c0002t0010g0182 a0001c0002t0010g0186 a0001c0002t0010g0203 a0001c0002t0025g0377 a0001c0002t0025g0389 a0001c0002t0037g0016 a0001c0002t0042g0155 a0001c0002t0045g0066 a0001c0002t0048g0192 a0001c0002t0050g0047 a0001c0002t0072g0312 a0001c0002t0073g0351 a0001c0003t0004g0030 a0001c0003t0004g0032 a0001c0003t0004g0034 a0001c0003t0004g0048 a0001c0003t0004g0074 a0001c0003t0004g0081 a0001c0003t0004g0124 a0001c0003t0004g0160 a0001c0003t0004g0165 a0001c0003t0004g0168 a0001c0003t0004g0177 a0001c0003t0004g0191 a0001c0003t0004g0193 a0001c0003t0004g0199 a0001c0003t0007g0332 a0001c0003t0007g0409 a0001c0003t0007g0414 a0001c0003t0009g0224 a0001c0003t0009g0253 a0001c0003t0009g0254 a0001c0003t0009g0277 a0001c0003t0009g0284 a0001c0003t0009g0291 a0001c0003t0009g0315 a0001c0003t0009g0328 a0001c0003t0009g0337 a0001c0003t0044g0173 a0001c0003t0070g0286 a0001c0003t0074g0278 a0001c0003t0077g0396 a0001c0008t0003g0391 a0001c0008t0003g0393 a0001c0017t0069g0395 a0001c0021t0075g0293 a0001c0022t0003g0304 a0006c0016t0007g0288 a0007c0013t0014g0089 a0009c0015t0006g0204	194	428	0.4533	0	c.105 others(6): Show c.1050-7T>C		GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding	6/11						chr12	TogoVar
GALNT6_chr12_51346252_51396406	51379284	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0255 a0001c0001t0081g0255	1	428	0.0023	0	c.491 others(5): Show c.491+7A>G		GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding	3/11						chr12	TogoVar
GALNT7_chr4_173163811_173328967	173303996	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0139 a0005c0009t0001g0139	1	266	0.0038	0	c.126 others(4): Show c.1267A>T	p.Ile others(6): Show p.Ile423Leu	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	8/12	1292/4249	1267/1974	423/657			chr4	TogoVar
GALNT7_chr4_173163811_173328967	173313951	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 NA18906.hp1 HG03130.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0177 a0002c0007t0007g0178 a0002c0007t0007g0177 a0002c0007t0007g0178	2	266	0.0075	0	c.139 others(6): Show c.1390-7T>A		GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	8/11						chr4	TogoVar
GALNT8_chr12_4715400_4777726	4744698	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0251 a0001c0022t0002g0251	1	338	0.0030	0	c.858 others(3): Show c.858G>A	p.Gly others(6): Show p.Gly286Gly	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	4/11	1136/2321	858/1914	286/637			chr12	TogoVar
GALNT8_chr12_4715400_4777726	4765352	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00544.hp1 HG00544.hp2 others(190): Show HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0013 a0015 a0017 a0018 a0019	a0001c0001 a0001c0014 a0001c0022 others(12): Show a0001c0001 a0001c0014 a0001c0022 a0002c0002 a0003c0003 a0003c0004 a0004c0005 a0007c0008 a0010c0011 a0011c0012 a0013c0019 a0015c0021 a0017c0026 a0018c0023 a0019c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0014t0001 a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0004c0005t0005 a0004c0005t0006 a0007c0008t0001 a0010c0011t0001 a0011c0012t0001 a0013c0019t0008 a0015c0021t0002 a0017c0026t0001 a0018c0023t0001 a0019c0025t0004	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(173): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0027 a0001c0001t0002g0224 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0296 a0001c0001t0004g0014 a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0014t0001g0217 a0001c0022t0002g0251 a0002c0002t0001g0154 a0002c0002t0002g0100 a0002c0002t0002g0176 a0002c0002t0002g0184 a0003c0003t0001g0018 a0003c0003t0001g0104 a0003c0003t0001g0126 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0002g0169 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0004c0005t0005g0252 a0004c0005t0005g0271 a0004c0005t0005g0272 a0004c0005t0005g0276 a0004c0005t0006g0257 a0007c0008t0001g0188 a0007c0008t0001g0208 a0007c0008t0001g0209 a0010c0011t0001g0186 a0010c0011t0001g0207 a0011c0012t0001g0244 a0011c0012t0001g0245 a0013c0019t0008g0275 a0015c0021t0002g0125 a0017c0026t0001g0078 a0018c0023t0001g0267 a0019c0025t0004g0014	193	338	0.5710	-1	c.159 others(7): Show c.1594-3delT		GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4765352	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00558.hp2 HG00609.hp1 others(119): Show HG00140.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0021	a0001c0001 a0002c0002 a0002c0018 others(8): Show a0001c0001 a0002c0002 a0002c0018 a0002c0020 a0003c0016 a0004c0005 a0005c0006 a0005c0010 a0006c0007 a0008c0009 a0021c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0018t0002 a0002c0020t0002 a0003c0016t0002 a0004c0005t0006 a0005c0006t0002 a0005c0010t0002 a0006c0007t0002 a0008c0009t0002 a0021c0028t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0030 others(98): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0235 a0001c0001t0001g0268 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0249 a0001c0001t0003g0046 a0001c0001t0003g0052 a0002c0002t0001g0008 a0002c0002t0001g0102 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0140 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0278 a0002c0002t0007g0139 a0002c0018t0002g0020 a0002c0020t0002g0144 a0003c0016t0002g0001 a0004c0005t0006g0256 a0005c0006t0002g0031 a0005c0006t0002g0060 a0005c0006t0002g0210 a0005c0006t0002g0277 a0005c0010t0002g0019 a0006c0007t0002g0007 a0008c0009t0002g0028 a0008c0009t0002g0029 a0021c0028t0001g0023	122	338	0.3610	-2	c.159 others(15): Show c.1594-4_1594-3delTT		GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4765352	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01943.hp2 HG02258.hp2 others(8): Show HG00323.hp2 HG01943.hp2 HG02258.hp2 HG02897.hp2 HG02965.hp2 NA18942.hp1 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18973.hp2 NA19009.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0001 a0002c0002 a0009c0013 others(1): Show a0001c0001 a0002c0002 a0009c0013 a0014c0015	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0009c0013t0002 a0014c0015t0002	a0001c0001t0001g0061 a0002c0002t0002g0105 a0002c0002t0002g0115 others(8): Show a0001c0001t0001g0061 a0002c0002t0002g0105 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0155 a0002c0002t0002g0165 a0002c0002t0002g0180 a0002c0002t0007g0138 a0009c0013t0002g0279 a0009c0013t0002g0295 a0014c0015t0002g0162	11	338	0.0325	-3	c.159 others(16): Show c.1594-5_1594-3delTTT		GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4765376	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0012 a0020 a0012 a0020	a0012c0017 a0020c0024 a0012c0017 a0020c0024	a0012c0017t0002 a0020c0024t0002 a0012c0017t0002 a0020c0024t0002	a0012c0017t0002g0123 a0020c0024t0002g0292 a0012c0017t0002g0123 a0020c0024t0002g0292	2	338	0.0059	0	c.159 others(6): Show c.1594-3T>A		GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	9/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132203685	CCACACCT others(62): Show CCACACCTGCGGGGAGACGGCGCTGGGTGCCGGCGTCCTTCCCAACGGAA GCGGGCAGCCCGGCCAGCTA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0001 a0003c0033t0001	a0003c0033t0001g0114 a0003c0033t0001g0114	1	183	0.0055	-69	c.107 others(81): Show c.1078-64_1082delTAGCTGGCCGGGCTGCCCGCTTCCGTTGGGAAG GACGCCGGCACCCAGCGCCGTCTCCCCGCAGGTGTG	p.Val others(5): Show p.Val360fs	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	7/11	1468/2933	1078/1812	360/603			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132247902	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	183	0.0055	0	c.107 others(6): Show c.1077+8C>T		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132286429	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02698.hp1 HG03834.hp2 HG02698.hp1 HG03834.hp2	a0001 a0001	a0001c0039 a0001c0040 a0001c0039 a0001c0040	a0001c0039t0006 a0001c0040t0007 a0001c0039t0006 a0001c0040t0007	a0001c0039t0006g0001 a0001c0040t0007g0002 a0001c0039t0006g0001 a0001c0040t0007g0002	2	183	0.0109	0	c.240 others(3): Show c.240C>G	p.Gly others(5): Show p.Gly80Gly	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/11	626/2933	240/1812	80/603			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151982978	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0112 a0003c0003t0002g0112	1	384	0.0026	0	c.369 others(5): Show c.369-8G>A		GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	3/8						chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151982987	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(291): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0009 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0002c0002 a0002c0019 others(8): Show a0001c0001 a0002c0002 a0002c0019 a0004c0004 a0006c0006 a0009c0008 a0013c0013 a0014c0011 a0015c0012 a0016c0014 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0019t0001 a0004c0004t0001 a0004c0004t0002 a0006c0006t0001 a0006c0006t0002 a0009c0008t0001 a0009c0008t0002 a0013c0013t0001 a0014c0011t0001 a0015c0012t0001 a0016c0014t0002 a0017c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(289): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0306 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0004g0011 a0002c0002t0001g0002 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0200 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0290 a0002c0002t0001g0297 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0355 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0164 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0317 a0002c0002t0002g0327 a0002c0002t0002g0330 a0002c0019t0001g0035 a0004c0004t0001g0066 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0102 a0004c0004t0001g0222 a0004c0004t0001g0269 a0004c0004t0002g0121 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0127 a0004c0004t0002g0128 a0004c0004t0002g0131 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0002g0134 a0004c0004t0002g0135 a0004c0004t0002g0136 a0004c0004t0002g0137 a0004c0004t0002g0138 a0004c0004t0002g0139 a0004c0004t0002g0140 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0183 a0004c0004t0002g0186 a0006c0006t0001g0017 a0006c0006t0001g0027 a0006c0006t0001g0028 a0006c0006t0001g0349 a0006c0006t0001g0350 a0006c0006t0002g0130 a0006c0006t0002g0169 a0006c0006t0002g0375 a0009c0008t0001g0091 a0009c0008t0002g0163 a0013c0013t0001g0016 a0014c0011t0001g0361 a0015c0012t0001g0352 a0016c0014t0002g0124 a0017c0015t0001g0055	294	384	0.7656	0	c.370 others(3): Show c.370T>C	p.Cys others(6): Show p.Cys124Arg	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	4/9	573/1663	370/1332	124/443			chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151983158	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	384	0.0026	0	c.535 others(5): Show c.535+6A>T		GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	4/8						chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151987161	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01169.hp2 HG01175.hp2 HG02145.hp2 others(5): Show HG01169.hp2 HG01175.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02723.hp2 HG03516.hp2	a0007 a0012 a0007 a0012	a0007c0007 a0012c0018 a0007c0007 a0012c0018	a0007c0007t0001 a0007c0007t0003 a0012c0018t0002 a0007c0007t0001 a0007c0007t0003 a0012c0018t0002	a0007c0007t0001g0218 a0007c0007t0003g0339 a0007c0007t0003g0340 others(5): Show a0007c0007t0001g0218 a0007c0007t0003g0339 a0007c0007t0003g0340 a0007c0007t0003g0341 a0007c0007t0003g0342 a0007c0007t0003g0343 a0007c0007t0003g0344 a0012c0018t0002g0110	8	384	0.0208	0	c.538 others(3): Show c.538G>T	p.Asp others(6): Show p.Asp180Tyr	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/9	741/1663	538/1332	180/443			chr7	TogoVar
GALP_chr19_56171008_56190775	56176048	GCCAGCTG others(43): Show GCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT C	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0042 a0001c0002t0030g0042	1	444	0.0023	-50	c.-44 others(60): Show c.-44_-40+45delGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGG CGGATCCCAGCTGCA		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/6				1002	INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56177201	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(83): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02300.hp2 HG02451.hp1 HG02622.hp1 HG02698.hp2 HG02818.hp2 HG03540.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19006.hp1 NA19009.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp2 NA19082.hp2 NA19090.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0004c0005t0003	a0001c0001t0001g0065 a0001c0001t0001g0138 a0001c0001t0001g0282 others(73): Show a0001c0001t0001g0065 a0001c0001t0001g0138 a0001c0001t0001g0282 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0003g0005 a0001c0001t0003g0082 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0004g0117 a0001c0001t0008g0368 a0001c0001t0008g0369 a0001c0001t0015g0061 a0001c0001t0019g0126 a0001c0002t0001g0048 a0001c0002t0001g0285 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0114 a0001c0002t0002g0120 a0001c0002t0002g0121 a0002c0003t0001g0137 a0002c0003t0002g0057 a0002c0003t0008g0367 a0004c0005t0003g0148	86	444	0.1937	0	c.87+ others(4): Show c.87+6G>A		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	2/5						chr19	TogoVar
GALP_chr19_56171008_56190775	56182251	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(115): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18990.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0006 a0002c0003 a0005c0006	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(10): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0012 a0002c0003t0017 a0002c0003t0027 a0005c0006t0001	a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0008 others(92): Show a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0028 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0046 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0058 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0071 a0002c0003t0001g0137 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0215 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0248 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0327 a0002c0003t0001g0328 a0002c0003t0001g0330 a0002c0003t0001g0331 a0002c0003t0001g0333 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0001g0359 a0002c0003t0001g0360 a0002c0003t0001g0361 a0002c0003t0001g0362 a0002c0003t0001g0364 a0002c0003t0001g0365 a0002c0003t0001g0366 a0002c0003t0002g0057 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0037 a0002c0003t0003g0129 a0002c0003t0003g0288 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0296 a0002c0003t0003g0297 a0002c0003t0004g0004 a0002c0003t0004g0038 a0002c0003t0004g0073 a0002c0003t0004g0314 a0002c0003t0004g0329 a0002c0003t0005g0214 a0002c0003t0006g0024 a0002c0003t0006g0168 a0002c0003t0006g0170 a0002c0003t0008g0367 a0002c0003t0010g0055 a0002c0003t0010g0070 a0002c0003t0010g0344 a0002c0003t0011g0283 a0002c0003t0012g0024 a0002c0003t0017g0187 a0002c0003t0027g0166 a0005c0006t0001g0346	118	444	0.2658	0	c.216 others(3): Show c.216C>G	p.Ile others(5): Show p.Ile72Met	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	4/6	310/950	216/351	72/116			chr19	TogoVar
GALP_chr19_56171008_56190775	56183136	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0006c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 others(118): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0244 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0285 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0313 a0001c0002t0001g0324 a0001c0002t0001g0345 a0001c0002t0001g0350 a0001c0002t0001g0358 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0114 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0003g0011 a0001c0002t0003g0060 a0001c0002t0003g0153 a0001c0002t0003g0271 a0001c0002t0003g0289 a0001c0002t0003g0312 a0001c0002t0004g0200 a0001c0002t0004g0207 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0268 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0002t0004g0280 a0001c0002t0004g0338 a0001c0002t0005g0006 a0001c0002t0005g0162 a0001c0002t0005g0163 a0001c0002t0005g0175 a0001c0002t0005g0178 a0001c0002t0005g0180 a0001c0002t0005g0185 a0001c0002t0006g0026 a0001c0002t0006g0169 a0001c0002t0006g0173 a0001c0002t0006g0176 a0001c0002t0007g0025 a0001c0002t0007g0165 a0001c0002t0007g0172 a0001c0002t0011g0157 a0001c0002t0011g0158 a0001c0002t0012g0164 a0001c0002t0012g0181 a0001c0002t0013g0301 a0001c0002t0016g0302 a0001c0002t0016g0303 a0001c0002t0022g0300 a0001c0002t0024g0186 a0001c0002t0025g0002 a0001c0002t0026g0223 a0001c0002t0028g0026 a0001c0002t0029g0219 a0001c0002t0030g0042 a0006c0007t0001g0254	138	444	0.3108	0	c.219 others(3): Show c.219C>T	p.Asp others(5): Show p.Asp73Asp	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	5/6	313/950	219/351	73/116			chr19	TogoVar
GALR1_chr18_77244848_77282900	77256158	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0100 a0005c0013t0100	a0005c0013t0100g0068 a0005c0013t0100g0068	1	366	0.0027	0	c.667 others(3): Show c.667G>T	p.Val others(6): Show p.Val223Phe	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/3	1368/10749	667/1050	223/349			chr18	TogoVar
GAMT_chr19_1392026_1406542	1397505	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(55): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG01123.hp2 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp2 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA19005.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0027	58	402	0.1443	0	c.571 others(5): Show c.571-6G>A		GAMT	ENSG00000130005.13	transcript	ENST00000252288.8	protein_coding	5/5						chr19	TogoVar
GAMT_chr19_1392026_1406542	1399202	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	402	0.0025	0	c.392 others(5): Show c.392-7C>T		GAMT	ENSG00000130005.13	transcript	ENST00000252288.8	protein_coding	3/5						chr19	TogoVar
GAMT_chr19_1392026_1406542	1399938	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18956.hp1 NA19000.hp2 NA19004.hp1 others(2): Show NA18956.hp1 NA19000.hp2 NA19004.hp1 NA19060.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0011	5	402	0.0124	0	c.182 others(3): Show c.182G>A	p.Gly others(5): Show p.Gly61Glu	GAMT	ENSG00000130005.13	transcript	ENST00000252288.8	protein_coding	2/6	248/1110	182/711	61/236			chr19	TogoVar
GANC_chr15_42268201_42358666	42276349	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(232): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0017 a0018	a0001c0001 a0001c0018 a0002c0002 others(21): Show a0001c0001 a0001c0018 a0002c0002 a0002c0021 a0002c0022 a0002c0023 a0003c0003 a0003c0008 a0003c0010 a0003c0013 a0003c0017 a0005c0005 a0005c0026 a0007c0007 a0008c0011 a0008c0025 a0009c0009 a0010c0012 a0011c0014 a0012c0015 a0013c0016 a0016c0024 a0017c0027 a0018c0028	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0018t0015 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0016 a0002c0021t0002 a0002c0022t0002 a0002c0023t0017 a0003c0003t0005 a0003c0003t0012 a0003c0008t0006 a0003c0008t0013 a0003c0010t0003 a0003c0013t0006 a0003c0017t0003 a0005c0005t0001 a0005c0005t0011 a0005c0026t0001 a0007c0007t0001 a0008c0011t0009 a0008c0025t0009 a0009c0009t0010 a0010c0012t0001 a0011c0014t0001 a0012c0015t0001 a0012c0015t0019 a0013c0016t0005 a0016c0024t0003 a0017c0027t0001 a0018c0028t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0138 others(222): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0004g0009 a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0178 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0240 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0014g0008 a0001c0001t0014g0221 a0001c0001t0018g0210 a0001c0018t0015g0172 a0001c0018t0015g0195 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0007g0058 a0002c0002t0007g0059 a0002c0002t0007g0060 a0002c0002t0007g0061 a0002c0002t0007g0062 a0002c0002t0008g0001 a0002c0002t0008g0005 a0002c0002t0008g0056 a0002c0002t0008g0080 a0002c0002t0016g0051 a0002c0002t0016g0052 a0002c0021t0002g0078 a0002c0022t0002g0088 a0002c0023t0017g0065 a0003c0003t0005g0011 a0003c0003t0005g0107 a0003c0003t0005g0108 a0003c0003t0005g0109 a0003c0003t0005g0110 a0003c0003t0005g0111 a0003c0003t0005g0112 a0003c0003t0005g0113 a0003c0003t0005g0114 a0003c0003t0005g0115 a0003c0003t0005g0116 a0003c0003t0005g0117 a0003c0003t0005g0118 a0003c0003t0005g0119 a0003c0003t0005g0120 a0003c0003t0005g0121 a0003c0003t0005g0122 a0003c0003t0005g0123 a0003c0003t0005g0124 a0003c0003t0012g0097 a0003c0003t0012g0098 a0003c0003t0012g0099 a0003c0003t0012g0100 a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0137 a0003c0008t0013g0132 a0003c0008t0013g0135 a0003c0008t0013g0136 a0003c0010t0003g0038 a0003c0010t0003g0039 a0003c0010t0003g0040 a0003c0010t0003g0041 a0003c0013t0006g0010 a0003c0013t0006g0130 a0003c0013t0006g0131 a0003c0017t0003g0049 a0003c0017t0003g0050 a0005c0005t0001g0092 a0005c0005t0001g0093 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0011g0006 a0005c0005t0011g0128 a0005c0005t0011g0129 a0005c0026t0001g0127 a0007c0007t0001g0003 a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0239 a0007c0007t0001g0241 a0008c0011t0009g0012 a0008c0011t0009g0013 a0008c0011t0009g0015 a0008c0011t0009g0016 a0008c0025t0009g0014 a0009c0009t0010g0053 a0009c0009t0010g0054 a0009c0009t0010g0125 a0009c0009t0010g0126 a0010c0012t0001g0142 a0010c0012t0001g0174 a0010c0012t0001g0175 a0010c0012t0001g0231 a0011c0014t0001g0224 a0011c0014t0001g0225 a0011c0014t0001g0226 a0012c0015t0001g0179 a0012c0015t0001g0186 a0012c0015t0019g0180 a0013c0016t0005g0104 a0013c0016t0005g0105 a0016c0024t0003g0037 a0017c0027t0001g0222 a0018c0028t0002g0182	235	262	0.8970	0	c.31C others(2): Show c.31C>G	p.Leu others(5): Show p.Leu11Val	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	2/24	1312/5553	31/2745	11/914			chr15	TogoVar
GANC_chr15_42268201_42358666	42348104	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG02056.hp1 HG02135.hp1 others(14): Show HG00558.hp2 HG02056.hp1 HG02135.hp1 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18954.hp1 NA18964.hp1 NA18972.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA19000.hp1 NA19055.hp2 NA19077.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0021 others(14): Show a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0021 a0004c0004t0003g0022 a0004c0004t0003g0023 a0004c0004t0003g0024 a0004c0004t0003g0027 a0004c0004t0003g0028 a0004c0004t0003g0029 a0004c0004t0003g0030 a0004c0004t0003g0031 a0004c0004t0003g0032 a0004c0004t0003g0033 a0004c0004t0003g0034 a0004c0004t0003g0035 a0004c0004t0003g0036 a0004c0004t0003g0042	17	262	0.0649	0	c.230 others(4): Show c.2306T>A	p.Ile others(6): Show p.Ile769Asn	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	21/24	3587/5553	2306/2745	769/914			chr15	TogoVar
GANC_chr15_42268201_42358666	42351331	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG00621.hp1 HG00639.hp2 others(144): Show HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18972.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19072.hp1 NA19077.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0013 a0014 a0016 a0018	a0002c0002 a0002c0021 a0002c0022 others(18): Show a0002c0002 a0002c0021 a0002c0022 a0002c0023 a0003c0003 a0003c0008 a0003c0010 a0003c0013 a0003c0017 a0004c0004 a0005c0005 a0005c0026 a0006c0006 a0007c0007 a0008c0011 a0008c0025 a0009c0009 a0013c0016 a0014c0019 a0016c0024 a0018c0028	a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 others(24): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0016 a0002c0021t0002 a0002c0022t0002 a0002c0023t0017 a0003c0003t0005 a0003c0003t0012 a0003c0008t0006 a0003c0008t0013 a0003c0010t0003 a0003c0013t0006 a0003c0017t0003 a0004c0004t0003 a0005c0005t0001 a0005c0005t0011 a0005c0026t0001 a0006c0006t0003 a0007c0007t0001 a0008c0011t0009 a0008c0025t0009 a0009c0009t0010 a0013c0016t0005 a0014c0019t0003 a0016c0024t0003 a0018c0028t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0004 others(136): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0007g0058 a0002c0002t0007g0059 a0002c0002t0007g0060 a0002c0002t0007g0061 a0002c0002t0007g0062 a0002c0002t0008g0001 a0002c0002t0008g0005 a0002c0002t0008g0056 a0002c0002t0008g0080 a0002c0002t0016g0051 a0002c0002t0016g0052 a0002c0021t0002g0078 a0002c0022t0002g0088 a0002c0023t0017g0065 a0003c0003t0005g0011 a0003c0003t0005g0107 a0003c0003t0005g0108 a0003c0003t0005g0109 a0003c0003t0005g0110 a0003c0003t0005g0111 a0003c0003t0005g0112 a0003c0003t0005g0113 a0003c0003t0005g0114 a0003c0003t0005g0115 a0003c0003t0005g0116 a0003c0003t0005g0117 a0003c0003t0005g0118 a0003c0003t0005g0119 a0003c0003t0005g0120 a0003c0003t0005g0121 a0003c0003t0005g0122 a0003c0003t0005g0123 a0003c0003t0005g0124 a0003c0003t0012g0097 a0003c0003t0012g0098 a0003c0003t0012g0099 a0003c0003t0012g0100 a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0137 a0003c0008t0013g0132 a0003c0008t0013g0135 a0003c0008t0013g0136 a0003c0010t0003g0038 a0003c0010t0003g0039 a0003c0010t0003g0040 a0003c0010t0003g0041 a0003c0013t0006g0010 a0003c0013t0006g0130 a0003c0013t0006g0131 a0003c0017t0003g0049 a0003c0017t0003g0050 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0021 a0004c0004t0003g0022 a0004c0004t0003g0023 a0004c0004t0003g0024 a0004c0004t0003g0027 a0004c0004t0003g0028 a0004c0004t0003g0029 a0004c0004t0003g0030 a0004c0004t0003g0031 a0004c0004t0003g0032 a0004c0004t0003g0033 a0004c0004t0003g0034 a0004c0004t0003g0035 a0004c0004t0003g0036 a0004c0004t0003g0042 a0005c0005t0001g0092 a0005c0005t0001g0093 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0011g0006 a0005c0005t0011g0128 a0005c0005t0011g0129 a0005c0026t0001g0127 a0006c0006t0003g0019 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0006t0003g0044 a0006c0006t0003g0045 a0006c0006t0003g0046 a0006c0006t0003g0047 a0006c0006t0003g0048 a0007c0007t0001g0003 a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0239 a0007c0007t0001g0241 a0008c0011t0009g0012 a0008c0011t0009g0013 a0008c0011t0009g0015 a0008c0011t0009g0016 a0008c0025t0009g0014 a0009c0009t0010g0053 a0009c0009t0010g0054 a0009c0009t0010g0125 a0009c0009t0010g0126 a0013c0016t0005g0104 a0013c0016t0005g0105 a0014c0019t0003g0020 a0016c0024t0003g0037 a0018c0028t0002g0182	147	262	0.5611	0	c.253 others(4): Show c.2534T>C	p.Phe others(6): Show p.Phe845Ser	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	23/24	3815/5553	2534/2745	845/914			chr15	TogoVar
GAN_chr16_81309962_81395809	81364976	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0357 a0001c0007t0014g0357	1	384	0.0026	0	c.123 others(4): Show c.1239C>T	p.Ile others(6): Show p.Ile413Ile	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	8/11	1391/15159	1239/1794	413/597			chr16	TogoVar
GAN_chr16_81309962_81395809	81390809	A A	C C	splice_region_variant splice_region_variant	LOW	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0180 a0001c0001t0173g0180	1	384	0.0026	0	c.13 others(6): Show c.13213A>C		GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	11/11						chr16	TogoVar
GAPDHS_chr19_35528456_35550319	35536808	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02257.hp2 HG02486.hp2 others(8): Show HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0063	11	428	0.0257	0	c.68- others(4): Show c.68-5C>T		GAPDHS	ENSG00000105679.9	transcript	ENST00000222286.9	protein_coding	1/10						chr19	TogoVar
GAPDHS_chr19_35528456_35550319	35536810	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	428	0.0023	0	c.68- others(4): Show c.68-3T>G		GAPDHS	ENSG00000105679.9	transcript	ENST00000222286.9	protein_coding	1/10						chr19	TogoVar
GAPDHS_chr19_35528456_35550319	35545318	C C	G G	splice_region_variant splice_region_variant	LOW	HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0083 a0001c0001t0002g0028 a0001c0001t0002g0083	3	428	0.0070	0	c.14 others(4): Show c.148C>G		GAPDHS	ENSG00000105679.9	transcript	ENST00000222286.9	protein_coding	11/11						chr19	TogoVar
GAPDH_chr12_6529517_6543371	6534859	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0020 a0001c0013t0002g0020	1	456	0.0022	0	c.27C others(2): Show c.27C>T	p.Asn others(4): Show p.Asn9Asn	GAPDH	ENSG00000111640.15	transcript	ENST00000229239.10	protein_coding	2/9	103/1285	27/1008	9/335			chr12	TogoVar
GAPDH_chr12_6529517_6543371	6536489	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	456	0.0022	0	c.30- others(4): Show c.30-5C>T		GAPDH	ENSG00000111640.15	transcript	ENST00000229239.10	protein_coding	2/8						chr12	TogoVar
GAPDH_chr12_6529517_6543371	6537577	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	456	0.0022	0	c.526 others(5): Show c.526-7T>G		GAPDH	ENSG00000111640.15	transcript	ENST00000229239.10	protein_coding	7/8						chr12	TogoVar
GAPT_chr5_58486435_58502090	58491549	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(100): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18956.hp2 NA18961.hp1 NA18977.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA19001.hp1 NA19001.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19072.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0004t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0029 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0003g0002 a0001c0001t0003g0031 a0001c0001t0004g0004 a0001c0001t0004g0030 a0001c0001t0006g0002 a0001c0001t0008g0002 a0001c0001t0008g0005 a0001c0001t0008g0028 a0001c0001t0010g0004 a0001c0001t0015g0002 a0001c0001t0018g0004 a0001c0001t0020g0005 a0001c0001t0021g0002 a0001c0001t0024g0026 a0001c0004t0003g0027	103	378	0.2725	0	c.-41 others(6): Show c.-419+8A>G		GAPT	ENSG00000175857.9	transcript	ENST00000502276.6	protein_coding	1/2						chr5	TogoVar
GAPT_chr5_58486435_58502090	58493843	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18959.hp1 NA18961.hp1 NA18977.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19068.hp2 NA19072.hp1 NA19085.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0002c0002t0014 a0002c0003t0012	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0004g0004 a0001c0001t0004g0030 a0001c0001t0008g0005 a0001c0001t0008g0028 a0001c0001t0010g0004 a0001c0001t0018g0004 a0001c0001t0020g0005 a0001c0001t0024g0026 a0002c0002t0014g0007 a0002c0003t0012g0009	106	378	0.2804	-1	c.-29 others(7): Show c.-291+8delA		GAPT	ENSG00000175857.9	transcript	ENST00000502276.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
GAPVD1_chr9_125256826_125372207	125295429	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00642.hp1 HG00673.hp1 others(11): Show HG00544.hp1 HG00642.hp1 HG00673.hp1 HG01496.hp2 HG02258.hp1 HG02451.hp2 HG03209.hp1 HG03486.hp2 HG03831.hp1 NA18941.hp1 NA18950.hp2 NA18978.hp2 NA19000.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0012 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0029 a0001c0003t0004 a0001c0003t0018 a0001c0004t0002	a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 others(11): Show a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0012g0099 a0001c0001t0029g0073 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0164 a0001c0003t0018g0165 a0001c0004t0002g0042	14	340	0.0412	1	c.-14 others(7): Show c.-149-8dupT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125295429	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(180): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0001c0016 a0003c0007 a0006c0011 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0002t0003 a0001c0002t0007 a0001c0002t0038 a0001c0005t0001 a0001c0014t0001 a0001c0016t0037 a0003c0007t0001 a0006c0011t0005 a0007c0017t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(180): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0201 a0001c0001t0002g0220 a0001c0001t0002g0257 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0005g0307 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0336 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0010g0216 a0001c0001t0010g0255 a0001c0001t0010g0266 a0001c0001t0013g0191 a0001c0001t0013g0198 a0001c0001t0014g0259 a0001c0001t0014g0263 a0001c0001t0019g0208 a0001c0001t0020g0335 a0001c0001t0021g0189 a0001c0001t0022g0279 a0001c0001t0023g0301 a0001c0001t0024g0194 a0001c0001t0025g0207 a0001c0001t0027g0222 a0001c0001t0032g0295 a0001c0001t0034g0217 a0001c0001t0035g0303 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0134 a0001c0002t0003g0140 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0151 a0001c0002t0007g0124 a0001c0002t0007g0129 a0001c0002t0007g0133 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0007g0137 a0001c0002t0007g0142 a0001c0002t0007g0143 a0001c0002t0007g0150 a0001c0002t0038g0141 a0001c0005t0001g0219 a0001c0005t0001g0231 a0001c0014t0001g0233 a0001c0016t0037g0152 a0003c0007t0001g0302 a0003c0007t0001g0308 a0006c0011t0005g0337 a0007c0017t0001g0250	183	340	0.5382	-1	c.-14 others(7): Show c.-149-8delT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125295429	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	340	0.0029	-12	c.-14 others(26): Show c.-149-19_-149-8delTTTTTTTTTTTT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125299114	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	340	0.0029	0	c.185 others(5): Show c.185+8G>C		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27						chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125301963	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01167.hp1 HG01257.hp2 others(16): Show HG01069.hp2 HG01167.hp1 HG01257.hp2 HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp2 NA18979.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0004 a0001c0003t0006 a0001c0003t0018 a0001c0003t0026 a0001c0010t0006	a0001c0001t0001g0234 a0001c0001t0002g0061 a0001c0001t0002g0309 others(16): Show a0001c0001t0001g0234 a0001c0001t0002g0061 a0001c0001t0002g0309 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0164 a0001c0003t0004g0170 a0001c0003t0006g0163 a0001c0003t0006g0166 a0001c0003t0006g0168 a0001c0003t0006g0169 a0001c0003t0006g0171 a0001c0003t0006g0172 a0001c0003t0018g0165 a0001c0003t0026g0118 a0001c0010t0006g0167	19	340	0.0559	-1	c.186 others(6): Show c.186-3delT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125331920	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	340	0.0029	0	c.217 others(6): Show c.2174-6A>G		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	13/27						chr9	TogoVar
GAR1_chr4_109810762_109829737	109816137	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02486.hp1 HG02559.hp2 others(11): Show HG01109.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0087 a0001c0001t0002g0031 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0087 a0001c0001t0002g0031 a0001c0001t0002g0085 a0001c0001t0002g0086	14	426	0.0329	1	c.-12 others(6): Show c.-12-7dupT		GAR1	ENSG00000109534.17	transcript	ENST00000226796.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
GAR1_chr4_109810762_109829737	109817929	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp2 HG02886.hp2 HG00738.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0032 a0001c0002t0001g0032 a0001c0001t0001g0032 a0001c0002t0001g0032	2	426	0.0047	0	c.215 others(5): Show c.215-7G>A		GAR1	ENSG00000109534.17	transcript	ENST00000226796.7	protein_coding	2/6						chr4	TogoVar
GAR1_chr4_109810762_109829737	109822487	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02615.hp1 NA19043.hp1 HG02615.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0077 a0001c0003t0001g0002 a0001c0003t0001g0077	2	426	0.0047	0	c.570 others(3): Show c.570C>T	p.Gly others(6): Show p.Gly190Gly	GAR1	ENSG00000109534.17	transcript	ENST00000226796.7	protein_coding	5/7	625/1015	570/654	190/217			chr4	TogoVar
GAREM2_chr2_26168088_26194663	26176345	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(238): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.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 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0004 a0001c0005 others(14): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0015 a0001c0018 a0002c0003 a0003c0009 a0004c0011 a0005c0013 a0007c0014 a0009c0016 a0010c0017 a0011c0019 a0012c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0004t0004 a0001c0005t0003 a0001c0005t0006 a0001c0005t0008 a0001c0007t0001 a0001c0008t0005 a0001c0012t0001 a0001c0015t0015 a0001c0018t0001 a0002c0003t0001 a0003c0009t0001 a0004c0011t0001 a0005c0013t0001 a0007c0014t0001 a0009c0016t0001 a0010c0017t0001 a0011c0019t0001 a0012c0010t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0005 a0001c0001t0002g0065 a0001c0001t0006g0024 a0001c0001t0007g0001 a0001c0001t0009g0023 a0001c0001t0010g0001 a0001c0001t0011g0018 a0001c0001t0012g0003 a0001c0001t0013g0010 a0001c0001t0014g0053 a0001c0004t0004g0006 a0001c0004t0004g0048 a0001c0005t0003g0017 a0001c0005t0006g0035 a0001c0005t0008g0025 a0001c0007t0001g0001 a0001c0007t0001g0036 a0001c0008t0005g0026 a0001c0012t0001g0001 a0001c0015t0015g0001 a0001c0018t0001g0041 a0002c0003t0001g0001 a0002c0003t0001g0054 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0069 a0003c0009t0001g0029 a0004c0011t0001g0003 a0005c0013t0001g0028 a0007c0014t0001g0003 a0009c0016t0001g0009 a0010c0017t0001g0001 a0011c0019t0001g0003 a0012c0010t0004g0047	241	306	0.7876	0	c.114 others(3): Show c.114G>A	p.Gly others(5): Show p.Gly38Gly	GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	2/6	247/4164	114/2625	38/874			chr2	TogoVar
GAREM2_chr2_26168088_26194663	26185282	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG04199.hp2 HG03831.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0042 a0001c0001t0001g0043	2	306	0.0065	0	c.142 others(6): Show c.1428+6T>C		GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	4/5						chr2	TogoVar
GARIN2_chr14_67184440_67228940	67208204	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp1 HG00621.hp1 HG01123.hp2 others(18): Show HG00280.hp1 HG00621.hp1 HG01123.hp2 HG01243.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02145.hp1 HG02273.hp1 HG02451.hp1 HG02717.hp2 HG02922.hp1 HG03041.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 NA18522.hp2 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0084 others(16): Show a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0084 a0002c0003t0001g0205 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0001g0228	21	332	0.0633	0	c.915 others(3): Show c.915A>G	p.Glu others(6): Show p.Glu305Glu	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/8	1158/1620	915/1254	305/417			chr14	TogoVar
GARIN5B_chr19_55349908_55368260	55355100	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(145): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0007 others(10): Show a0001 a0002 a0007 a0012 a0016 a0018 a0025 a0029 a0030 a0031 a0032 a0034 a0035	a0001c0001 a0001c0030 a0002c0004 others(11): Show a0001c0001 a0001c0030 a0002c0004 a0007c0010 a0012c0012 a0016c0018 a0018c0041 a0025c0033 a0029c0024 a0030c0026 a0031c0029 a0032c0027 a0034c0031 a0035c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0030t0001 a0002c0004t0002 a0007c0010t0001 a0012c0012t0001 a0012c0012t0002 a0016c0018t0001 a0018c0041t0002 a0025c0033t0002 a0029c0024t0001 a0030c0026t0002 a0031c0029t0002 a0032c0027t0001 a0034c0031t0002 a0035c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0025 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0130 a0001c0001t0003g0024 a0001c0001t0006g0134 a0001c0030t0001g0089 a0002c0004t0002g0115 a0007c0010t0001g0111 a0007c0010t0001g0118 a0012c0012t0001g0021 a0012c0012t0002g0075 a0016c0018t0001g0043 a0018c0041t0002g0127 a0025c0033t0002g0094 a0029c0024t0001g0071 a0030c0026t0002g0072 a0031c0029t0002g0088 a0032c0027t0001g0074 a0034c0031t0002g0093 a0035c0023t0001g0070	148	356	0.4157	0	c.41 others(5): Show c.41-5C>G		GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	10/10						chr19	TogoVar

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