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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GABRG3_chr15_26966181_27546984	27388143	TAAGGAAG others(9): Show TAAGGAAGGAAGGAAGA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0019 a0001c0002t0035g0019	1	92	0.0109	-16	c.574 others(35): Show c.574+59271_574+59286delAAAGGAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR3_chr3_97980102_98040315	97982714	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG01346.hp1 others(61): Show HG00408.hp2 HG00733.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03471.hp2 HG03704.hp1 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0002c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(54): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0083 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0004g0003 a0001c0001t0004g0204 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0228 a0001c0001t0004g0231 a0001c0001t0004g0241 a0001c0001t0004g0245 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0279 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0295 a0001c0001t0004g0297 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0321 a0001c0001t0004g0335 a0001c0001t0010g0030 a0001c0001t0010g0031 a0001c0001t0011g0078 a0001c0001t0011g0171 a0001c0001t0011g0174 a0001c0001t0019g0124 a0001c0001t0022g0173 a0001c0001t0024g0227 a0002c0002t0002g0036 a0002c0002t0002g0045 a0002c0002t0002g0052 a0002c0002t0002g0058 a0002c0002t0002g0066	64	382	0.1675	-16	c.39 others(27): Show c.3953_*3968delACACACACACACACAC	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding		2387		chr3	TogoVar
GABRR3_chr3_97980102_98040315	97989453	GTGGTGGT others(9): Show GTGGTGGTGGTGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0173 a0001c0001t0022g0173	1	382	0.0026	-16	c.110 others(35): Show c.1105-2487_1105-2472delTCCACCACCACCACCA	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	9/9			chr3	TogoVar
GAD1_chr2_170811887_170866151	170824378	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp1 HG01943.hp1 others(6): Show HG01243.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02109.hp2 HG02148.hp1 HG02300.hp2 HG02572.hp1 NA18968.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0006c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0002c0005t0005 a0006c0011t0007	a0001c0001t0001g0073 a0001c0001t0007g0020 a0001c0001t0007g0383 others(5): Show a0001c0001t0001g0073 a0001c0001t0007g0020 a0001c0001t0007g0383 a0001c0001t0010g0384 a0001c0002t0001g0139 a0001c0002t0002g0267 a0002c0005t0005g0186 a0006c0011t0007g0385	9	412	0.0218	-16	c.145 others(33): Show c.145+2256_145+2271delACACACACACACACAC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GADL1_chr3_30721197_30899661	30800806	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG02886.hp2 others(2): Show HG01243.hp2 HG02647.hp1 HG02886.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0017 a0001c0010t0011 a0001c0001t0005 a0001c0001t0017 a0001c0010t0011	a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0201 others(2): Show a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0201 a0001c0001t0017g0001 a0001c0010t0011g0105	5	282	0.0177	-16	c.125 others(31): Show c.1250+67_1250+82delGTGTGTGTGTGTGTGT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	12/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30816530	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	282	0.0036	-16	c.105 others(37): Show c.1051-15458_1051-15443delAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GAGE10_chrX_49298646_49324841	49300477	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	302	0.0033	-16	c.-32 others(27): Show c.-3284_-3269delTTTTTTTTTTTTTTTT	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding		3168		chrX	TogoVar
GAGE10_chrX_49298646_49324841	49323930	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02486.hp1 HG02738.hp1 others(7): Show HG00280.hp1 HG02486.hp1 HG02738.hp1 HG04115.hp1 NA18944.hp1 NA18987.hp2 NA18999.hp1 NA19075.hp1 NA19076.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0106 a0001c0001t0004g0098	10	302	0.0331	-16	c.41 others(27): Show c.4181_*4196delTGTGTGTGTGTGTGTG	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding		4090		chrX	TogoVar
GAGE12G_chrX_49565400_49582754	49566895	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	95	0.0105	-16	c.-36 others(27): Show c.-3620_-3605delTTTATTTATTTATTTA	GAGE12G	ENSG00000215269.6	transcript	ENST00000445148.2	protein_coding		3504		chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49323930	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02486.hp1 HG02738.hp1 others(2): Show HG00280.hp1 HG02486.hp1 HG02738.hp1 HG03239.hp1 HG04115.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0007	a0001c0001t0002 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0004c0004t0001 a0007c0007t0003	a0001c0001t0002g0049 a0002c0002t0001g0038 a0004c0004t0001g0021 others(2): Show a0001c0001t0002g0049 a0002c0002t0001g0038 a0004c0004t0001g0021 a0007c0007t0003g0043 a0007c0007t0003g0044	5	194	0.0258	-16	c.205 others(29): Show c.205+81_205+96delGTGTGTGTGTGTGTGT	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49333475	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0008c0008 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0014c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0004c0004t0001 a0006c0006t0002 a0007c0007t0003 a0008c0008t0001 a0009c0011t0002 a0010c0012t0002 a0011c0013t0002 a0012c0014t0002 a0014c0010t0001	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 others(61): Show a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0004g0015 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0064 a0002c0002t0006g0018 a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0088 a0004c0004t0001g0001 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0024 a0004c0004t0001g0031 a0006c0006t0002g0006 a0007c0007t0003g0043 a0007c0007t0003g0044 a0008c0008t0001g0007 a0009c0011t0002g0008 a0010c0012t0002g0070 a0011c0013t0002g0065 a0012c0014t0002g0072 a0014c0010t0001g0001	130	194	0.6701	-16	c.41 others(27): Show c.4183_*4198delGTGTGTGTGTGTGTGT	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding		4092		chrX	TogoVar
GAGE13_chrX_49326582_49343949	49333475	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp2 HG01099.hp1 others(50): Show HG00408.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0007	a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 others(6): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 a0003c0003t0003 a0003c0003t0004 a0004c0004t0001 a0004c0004t0002 a0006c0006t0004 a0007c0007t0001	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 others(26): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0032 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0006g0011 a0003c0003t0003g0041 a0003c0003t0004g0015 a0003c0003t0004g0046 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0059 a0004c0004t0002g0030 a0004c0004t0002g0031 a0006c0006t0004g0010 a0007c0007t0001g0002	53	93	0.5699	-16	c.205 others(29): Show c.205+82_205+97delTGTGTGTGTGTGTGTG	GAGE13	ENSG00000274274.2	transcript	ENST00000612958.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49595522	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp1 HG02965.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0091 a0003c0003t0001g0092	2	130	0.0154	-16	c.329 others(33): Show c.329-1167_329-1152delTTATTTATTTATTTAT	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	856390	CCTGCTCA others(9): Show CCTGCTCACCACCACAG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18949.hp1 NA18959.hp2 others(1): Show HG02083.hp1 NA18949.hp1 NA18959.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0146 a0001c0002t0001g0024 a0001c0002t0001g0027 others(1): Show a0001c0001t0002g0146 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0028	4	390	0.0103	-16	c.328 others(35): Show c.3283+3200_3283+3215delCTGTGGTGGTGAGCAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	894978	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0191 a0001c0005t0002g0191	1	390	0.0026	-16	c.742 others(31): Show c.742-985_742-970delATTTATTTATTTATTT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	7/27			chr4	TogoVar
GAK_chr4_844277_937316	919825	TCTACATC others(9): Show TCTACATCCAGCACCTA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	390	0.0026	-16	c.146 others(33): Show c.146-6173_146-6158delTAGGTGCTGGATGTAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST1_chr22_30549635_30579665	30564670	AAGGAGAA others(9): Show AAGGAGAAACAGGACTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18966.hp2 NA18971.hp1 HG00099.hp1 NA18966.hp2 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0153 a0002c0002t0001g0062 a0002c0002t0001g0153	3	452	0.0066	-16	c.-11 others(35): Show c.-119-6298_-119-6283delAAGTCCTGTTTCTCCT	GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding	1/3			chr22	TogoVar
GAL3ST4_chr7_100154244_100173617	100159047	TAGAAGGC others(9): Show TAGAAGGCCTAGGCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	402	0.0025	-16	c.86 others(25): Show c.865_*880delCCTGCCTAGGCCTTCT	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		196		chr7	TogoVar
GALC_chr14_87928014_87998182	87962578	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01978.hp2 HG02004.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02970.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp2 NA18984.hp2 NA19065.hp2 NA19083.hp1 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0028 a0001c0001 a0011c0028	a0001c0001t0001 a0011c0028t0001 a0001c0001t0001 a0011c0028t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0227 others(22): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0294 a0001c0001t0001g0315 a0001c0001t0001g0323 a0011c0028t0001g0058	27	370	0.0730	-16	c.116 others(33): Show c.1161+790_1161+805delGTGTGTGTGTGTGTGT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49165557	ATAATTGA others(9): Show ATAATTGAGATATGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0137 a0001c0002t0003g0137	1	348	0.0029	-16	c.-47 others(27): Show c.-4765_-4750delTAATTGAGATATGCTG	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding		4689		chr15	TogoVar
GALK2_chr15_49165247_49336882	49192485	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	348	0.0029	-16	c.54- others(31): Show c.54-8652_54-8637delTATATATATATATATA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00735.hp1 others(46): Show HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01943.hp1 HG02004.hp2 HG02109.hp1 HG02145.hp2 HG02273.hp1 HG02615.hp1 HG02683.hp1 HG02970.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18966.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18986.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0050 a0001c0001t0055	a0001c0001t0001g0010 a0001c0001t0001g0252 a0001c0001t0001g0256 others(46): Show a0001c0001t0001g0010 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0340 a0001c0001t0002g0017 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0005g0214 a0001c0001t0005g0224 a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0236 a0001c0001t0009g0242 a0001c0001t0012g0262 a0001c0001t0013g0265 a0001c0001t0014g0342 a0001c0001t0014g0343 a0001c0001t0027g0316 a0001c0001t0028g0226 a0001c0001t0029g0215 a0001c0001t0033g0221 a0001c0001t0039g0345 a0001c0001t0040g0276 a0001c0001t0050g0023 a0001c0001t0055g0282	49	348	0.1408	-16	c.505 others(33): Show c.505-4816_505-4801delTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38675539	TTTTTTGT others(9): Show TTTTTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0228 a0001c0001t0008g0228	1	328	0.0031	-16	c.191 others(31): Show c.191-371_191-356delTTTTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675541	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	328	0.0031	-16	c.191 others(31): Show c.191-369_191-354delTTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675543	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02630.hp1 others(4): Show HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0002c0002t0012	a0001c0001t0001g0318 a0001c0001t0002g0313 a0001c0001t0002g0314 others(4): Show a0001c0001t0001g0318 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0015g0315 a0001c0001t0015g0316 a0002c0002t0012g0326	7	328	0.0213	-16	c.191 others(31): Show c.191-338_191-323delTGTGTGTGTGTGTGTG	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686220	ATTTCTTT others(9): Show ATTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG02486.hp2 others(2): Show HG01070.hp2 HG01109.hp2 HG02486.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0075 a0001c0001t0001g0127 a0001c0001t0003g0077 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0127 a0001c0001t0003g0077 a0001c0001t0003g0108 a0001c0001t0020g0095	5	328	0.0152	-16	c.553 others(33): Show c.553-3550_553-3535delTCTTTCTTTCTTTCTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703084	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0031 a0001c0001t0017g0031	1	328	0.0031	-16	c.634 others(35): Show c.634+13192_634+13207delATATATATTTTTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703086	ATATATAT others(9): Show ATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp1 NA19063.hp1 HG01358.hp2 HG01928.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0044 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0044	3	328	0.0092	-16	c.634 others(35): Show c.634+13194_634+13209delATATATTTTTTTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT10_chr5_154185733_154425984	154219832	TCTCTCTC others(9): Show TCTCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0154 a0001c0005t0002g0154	1	236	0.0042	-16	c.159 others(35): Show c.159+28809_159+28824delTCTCTCACACACACAC	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT11_chr7_152020674_152127340	152113712	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp2 HG03704.hp2 HG00280.hp2 HG01978.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0100 a0001c0001t0001g0182 a0001c0001t0001g0183	3	284	0.0106	-16	c.123 others(33): Show c.1233+341_1233+356delTTTTTTTTTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT12_chr9_98802670_98855081	98829153	TTATCTAT others(9): Show TTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01934.hp2 HG01943.hp2 others(8): Show HG00544.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02257.hp1 HG02572.hp2 NA18979.hp1 NA19003.hp1 NA19080.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0001c0001t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0185 a0001c0004t0001g0145 a0001c0004t0001g0192 others(8): Show a0001c0001t0001g0185 a0001c0004t0001g0145 a0001c0004t0001g0192 a0002c0003t0001g0250 a0002c0003t0001g0260 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0318 a0002c0003t0001g0322	11	376	0.0293	-16	c.731 others(33): Show c.731+2250_731+2265delATCTATCTATCTATCT	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
GALNT12_chr9_98802670_98855081	98854816	TTATATAT others(9): Show TTATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02056.hp2 NA18966.hp1 others(1): Show HG00438.hp1 HG02056.hp2 NA18966.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0002 a0001c0002t0002 a0002c0005t0002	a0001c0002t0002g0119 a0001c0002t0002g0263 a0001c0002t0002g0301 others(1): Show a0001c0002t0002g0119 a0001c0002t0002g0263 a0001c0002t0002g0301 a0002c0005t0002g0270	4	376	0.0106	-16	c.57 others(27): Show c.5725_*5740delTATATATATATATATA	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding		4736		chr9	TogoVar
GALNT13_chr2_153866922_154458979	153963729	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp1 NA18906.hp2 HG03195.hp2 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0066 a0001c0001t0067 a0001c0001t0052 a0001c0001t0066 a0001c0001t0067	a0001c0001t0052g0187 a0001c0001t0066g0006 a0001c0001t0067g0005 a0001c0001t0052g0187 a0001c0001t0066g0006 a0001c0001t0067g0005	3	214	0.0140	-16	c.142 others(35): Show c.142+19092_142+19107delCTGTGTGTGTGTGTGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110278	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01934.hp2 others(6): Show HG00280.hp1 HG01168.hp2 HG01934.hp2 HG02135.hp2 HG02451.hp2 HG03491.hp1 HG03688.hp2 NA18947.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0036	a0001c0001t0002g0131 a0001c0001t0003g0020 a0001c0001t0003g0026 others(6): Show a0001c0001t0002g0131 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0005g0125 a0001c0001t0009g0089 a0001c0001t0010g0188 a0001c0001t0011g0122 a0001c0001t0020g0124 a0001c0001t0036g0090	9	214	0.0421	-16	c.143 others(35): Show c.143-30015_143-30000delTATATATATATATATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110324	TATATATA others(9): Show TATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0086 a0001c0001t0031g0086	1	214	0.0047	-16	c.143 others(35): Show c.143-30011_143-29996delTATATATATATAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154133534	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 NA18747.hp1 others(1): Show HG02622.hp1 HG02896.hp1 NA18747.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0054 others(1): Show a0001c0001t0004 a0001c0001t0034 a0001c0001t0054 a0001c0001t0057	a0001c0001t0004g0003 a0001c0001t0034g0118 a0001c0001t0054g0031 others(1): Show a0001c0001t0004g0003 a0001c0001t0034g0118 a0001c0001t0054g0031 a0001c0001t0057g0150	4	214	0.0187	-16	c.143 others(33): Show c.143-6767_143-6752delATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154176240	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0182 a0001c0001t0012g0182	1	214	0.0047	-16	c.311 others(35): Show c.311+35772_311+35787delTTATTTATTTATTTAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154187369	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19011.hp2 HG02040.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0068 a0001c0001t0004 a0001c0001t0068	a0001c0001t0004g0189 a0001c0001t0068g0177 a0001c0001t0004g0189 a0001c0001t0068g0177	2	214	0.0094	-16	c.311 others(35): Show c.311+46894_311+46909delCACACACACACACACA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154208624	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0073 a0001c0001t0078g0073	1	214	0.0047	-16	c.312 others(35): Show c.312-33376_312-33361delGTGTGTGTGTGTGTGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154252724	AAGATAGA others(9): Show AAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02027.hp2 HG02602.hp1 others(2): Show HG01952.hp1 HG02027.hp2 HG02602.hp1 HG02738.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0027 a0001c0001t0036	a0001c0001t0001g0050 a0001c0001t0005g0101 a0001c0001t0009g0104 others(2): Show a0001c0001t0001g0050 a0001c0001t0005g0101 a0001c0001t0009g0104 a0001c0001t0027g0014 a0001c0001t0036g0090	5	214	0.0234	-16	c.858 others(33): Show c.858-6255_858-6240delGATAGATAGATAGATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154351682	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01261.hp2 others(8): Show HG00738.hp1 HG01074.hp2 HG01261.hp2 HG01884.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 others(6): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0033 a0001c0001t0061 a0001c0001t0074 a0002c0002t0038	a0001c0001t0009g0126 a0001c0001t0011g0093 a0001c0001t0011g0097 others(8): Show a0001c0001t0009g0126 a0001c0001t0011g0093 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0013g0161 a0001c0001t0017g0162 a0001c0001t0021g0140 a0001c0001t0033g0061 a0001c0001t0061g0045 a0001c0001t0074g0071 a0002c0002t0038g0113	11	214	0.0514	-16	c.115 others(37): Show c.1157-44286_1157-44271delAAAAAAAAAAAAAAAA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154354405	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01256.hp1 others(33): Show HG00099.hp1 HG01074.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01891.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02129.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03195.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA19011.hp1 NA19043.hp1 NA19062.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0062 a0001c0001t0067 a0001c0001t0077	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0003g0004 others(33): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0003g0004 a0001c0001t0004g0206 a0001c0001t0005g0101 a0001c0001t0005g0103 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0007g0190 a0001c0001t0008g0043 a0001c0001t0009g0091 a0001c0001t0009g0104 a0001c0001t0009g0126 a0001c0001t0010g0205 a0001c0001t0011g0001 a0001c0001t0013g0167 a0001c0001t0014g0133 a0001c0001t0015g0015 a0001c0001t0015g0067 a0001c0001t0016g0169 a0001c0001t0016g0173 a0001c0001t0016g0176 a0001c0001t0019g0076 a0001c0001t0020g0092 a0001c0001t0020g0120 a0001c0001t0026g0184 a0001c0001t0026g0185 a0001c0001t0027g0014 a0001c0001t0029g0166 a0001c0001t0032g0079 a0001c0001t0034g0118 a0001c0001t0039g0105 a0001c0001t0062g0039 a0001c0001t0067g0005 a0001c0001t0077g0083	36	214	0.1682	-16	c.115 others(37): Show c.1157-41562_1157-41547delTTTTTTTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989582	AAAAATAT others(9): Show AAAAATATATATATTAG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	226	0.0044	-16	c.299 others(33): Show c.299+3240_299+3255delCTAATATATATATTTT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31035602	CACACACA others(9): Show CACACACACACACACCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02965.hp1 others(2): Show HG01884.hp1 HG02258.hp1 HG02965.hp1 NA18954.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0005t0001 a0002c0003t0005 a0001c0001t0001 a0001c0005t0001 a0002c0003t0005	a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0168 a0001c0005t0001g0109 a0002c0003t0005g0188	5	226	0.0221	-16	c.130 others(35): Show c.130-42611_130-42596delAGGTGTGTGTGTGTGT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31072261	TCTCACAC others(9): Show TCTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02055.hp1 HG02622.hp1 others(3): Show HG01515.hp1 HG02055.hp1 HG02622.hp1 HG02630.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0001t0001 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0116 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0116 a0001c0001t0001g0174 a0001c0001t0005g0189 a0001c0005t0001g0122	6	226	0.0266	-16	c.129 others(35): Show c.129+65681_129+65696delTGTGTGTGTGTGTGAG	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31072266	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01081.hp2 others(13): Show HG00280.hp2 HG00639.hp2 HG01081.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG02155.hp1 HG02273.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG03831.hp2 NA18986.hp1 NA18990.hp1 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0002c0004 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0015t0001 a0002c0004t0002 a0005c0012t0007	a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0107 others(13): Show a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0107 a0001c0001t0001g0166 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0002t0001g0094 a0001c0015t0001g0046 a0002c0004t0002g0220 a0005c0012t0007g0186	16	226	0.0708	-16	c.129 others(35): Show c.129+65676_129+65691delATGTGTGTGTGTGTGT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31130771	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	226	0.0044	-16	c.129 others(33): Show c.129+7171_129+7186delGCGCACACACACACAC	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16185748	CAGATAGA others(9): Show CAGATAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01433.hp2 others(5): Show HG01074.hp2 HG01099.hp2 HG01433.hp2 HG01981.hp1 HG02258.hp2 HG02895.hp1 HG03654.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0003 a0001c0002t0005 a0001c0016t0049 a0001c0002t0003 a0001c0002t0005 a0001c0016t0049	a0001c0002t0003g0017 a0001c0002t0003g0360 a0001c0002t0003g0361 others(4): Show a0001c0002t0003g0017 a0001c0002t0003g0360 a0001c0002t0003g0361 a0001c0002t0003g0362 a0001c0002t0003g0363 a0001c0002t0005g0127 a0001c0016t0049g0346	8	388	0.0206	-16	c.540 others(33): Show c.540-9983_540-9968delAGATAGATAGATAGAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16203539	TCTCTCAC others(9): Show TCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	388	0.0026	-16	c.911 others(33): Show c.911+2718_911+2733delTCTCACACACACACAC	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16207528	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG02559.hp2 others(7): Show HG01167.hp2 HG01884.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG03098.hp1 HG03209.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0003 a0002c0010 others(2): Show a0001c0007 a0002c0003 a0002c0010 a0003c0004 a0003c0005	a0001c0007t0008 a0002c0003t0001 a0002c0010t0011 others(2): Show a0001c0007t0008 a0002c0003t0001 a0002c0010t0011 a0003c0004t0006 a0003c0005t0028	a0001c0007t0008g0178 a0001c0007t0008g0181 a0001c0007t0008g0182 others(7): Show a0001c0007t0008g0178 a0001c0007t0008g0181 a0001c0007t0008g0182 a0001c0007t0008g0186 a0001c0007t0008g0217 a0002c0003t0001g0332 a0002c0010t0011g0333 a0002c0010t0011g0334 a0003c0004t0006g0337 a0003c0005t0028g0039	10	388	0.0258	-16	c.912 others(31): Show c.912-974_912-959delAAAAAAAAAAAAAAAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	3/9			chr3	TogoVar

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