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
GALNT1_chr18_35576740_35716834	35690234	TAACAAAG others(7): Show TAACAAAGACAACAA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	310	0.0032	-14	c.979 others(29): Show c.979-773_979-760delAAGACAACAAAACA	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT2_chr1_230062238_230287122	230100996	CCATTGTG others(7): Show CCATTGTGTTACCTA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	324	0.0031	-14	c.126 others(33): Show c.126+33593_126+33606delTTGTGTTACCTACA	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230180296	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	324	0.0031	-14	c.220 others(31): Show c.220+1998_220+2011delTTTTTTTTTTTTTT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230185269	CGTGCGTG others(7): Show CGTGCGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02622.hp1 others(3): Show HG02055.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0008 a0001c0003t0004 a0001c0003t0018 others(1): Show a0001c0001t0008 a0001c0003t0004 a0001c0003t0018 a0001c0008t0012	a0001c0001t0008g0270 a0001c0001t0008g0271 a0001c0003t0004g0259 others(3): Show a0001c0001t0008g0270 a0001c0001t0008g0271 a0001c0003t0004g0259 a0001c0003t0018g0288 a0001c0003t0018g0306 a0001c0008t0012g0009	6	324	0.0185	-14	c.220 others(31): Show c.220+6962_220+6975delCGTGTGTGTGTGTG	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT5_chr2_157252705_157323491	157256569	AATATATA others(7): Show AATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG03195.hp2 HG02055.hp1 HG02630.hp1 HG03195.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0008 a0002c0003 a0005c0008	a0002c0003t0041 a0002c0003t0067 a0005c0008t0026 a0002c0003t0041 a0002c0003t0067 a0005c0008t0026	a0002c0003t0041g0195 a0002c0003t0067g0165 a0005c0008t0026g0172 a0002c0003t0041g0195 a0002c0003t0067g0165 a0005c0008t0026g0172	3	282	0.0106	-14	c.-15 others(25): Show c.-1513_-1500delATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157286893	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0076	a0001c0002t0076g0251 a0001c0002t0076g0251	1	282	0.0036	-14	c.174 others(31): Show c.1741+790_1741+803delGTGTGTGTGTGTGT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT5_chr2_157252705_157323491	157294784	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show HG01891.hp2 HG02615.hp1 HG03139.hp1 NA20752.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0011 a0006c0010 a0001c0001 a0004c0011 a0006c0010	a0001c0001t0073 a0004c0011t0079 a0004c0011t0089 others(1): Show a0001c0001t0073 a0004c0011t0079 a0004c0011t0089 a0006c0010t0010	a0001c0001t0073g0087 a0004c0011t0079g0176 a0004c0011t0089g0177 others(1): Show a0001c0001t0073g0087 a0004c0011t0079g0176 a0004c0011t0089g0177 a0006c0010t0010g0175	4	282	0.0142	-14	c.174 others(31): Show c.1742-853_1742-840delACACACACACACAC	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT6_chr12_51346252_51396406	51354929	TTGAGCTC others(7): Show TTGAGCTCAGCATGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(58): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01993.hp1 HG02165.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp1 NA18950.hp1 NA18955.hp1 NA18973.hp2 NA18990.hp1 NA19007.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0007c0013 a0010c0018	a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 others(18): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0036 a0001c0001t0038 a0001c0001t0054 a0001c0001t0055 a0001c0001t0061 a0001c0001t0083 a0001c0002t0004 a0001c0003t0015 a0001c0003t0085 a0001c0006t0019 a0001c0006t0028 a0001c0006t0041 a0007c0013t0014 a0010c0018t0015	a0001c0001t0008g0008 a0001c0001t0008g0214 a0001c0001t0008g0216 others(55): Show a0001c0001t0008g0008 a0001c0001t0008g0214 a0001c0001t0008g0216 a0001c0001t0008g0221 a0001c0001t0008g0222 a0001c0001t0008g0223 a0001c0001t0008g0237 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0008g0252 a0001c0001t0008g0256 a0001c0001t0008g0271 a0001c0001t0008g0272 a0001c0001t0008g0285 a0001c0001t0008g0287 a0001c0001t0008g0298 a0001c0001t0008g0333 a0001c0001t0008g0360 a0001c0001t0008g0371 a0001c0001t0008g0398 a0001c0001t0011g0001 a0001c0001t0011g0071 a0001c0001t0011g0080 a0001c0001t0011g0082 a0001c0001t0011g0086 a0001c0001t0011g0101 a0001c0001t0011g0111 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0129 a0001c0001t0011g0130 a0001c0001t0011g0134 a0001c0001t0011g0135 a0001c0001t0011g0153 a0001c0001t0011g0184 a0001c0001t0014g0117 a0001c0001t0014g0143 a0001c0001t0014g0146 a0001c0001t0014g0185 a0001c0001t0017g0036 a0001c0001t0019g0241 a0001c0001t0019g0257 a0001c0001t0028g0381 a0001c0001t0029g0340 a0001c0001t0036g0116 a0001c0001t0038g0100 a0001c0001t0054g0188 a0001c0001t0055g0190 a0001c0001t0061g0046 a0001c0001t0083g0215 a0001c0002t0004g0024 a0001c0003t0015g0289 a0001c0003t0085g0362 a0001c0006t0019g0394 a0001c0006t0028g0209 a0001c0006t0041g0061 a0007c0013t0014g0089 a0010c0018t0015g0413	61	428	0.1425	-14	c.175 others(31): Show c.1756-451_1756-438delCCATGCTGAGCTCA	GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding	11/11			chr12	TogoVar
GALNT7_chr4_173163811_173328967	173167583	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03579.hp1 HG02647.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0170 a0001c0002t0006g0172 a0001c0002t0006g0170 a0001c0002t0006g0172	2	266	0.0075	-14	c.-12 others(25): Show c.-1252_-1239delAAAAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding		1227		chr4	TogoVar
GALNT7_chr4_173163811_173328967	173178007	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	266	0.0038	-14	c.126 others(31): Show c.126+9079_126+9092delTGTGTGTGTGTGTG	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173178048	TGTGTGCG others(7): Show TGTGTGCGCGCACGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	266	0.0038	-14	c.126 others(31): Show c.126+9089_126+9102delTGTGCGCGCACGCG	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173183043	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02723.hp1 others(2): Show HG02451.hp1 HG02615.hp1 HG02723.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029	5	266	0.0188	-14	c.126 others(33): Show c.126+14117_126+14130delACACACACACACAC	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173266868	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	266	0.0038	-14	c.587 others(33): Show c.587+18474_587+18487delTGTGTGTGTGTGTG	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT8_chr12_4715400_4777726	4758629	TGTGTGTG others(7): Show TGTGTGTGTGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01070.hp1 others(6): Show HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01516.hp1 HG01517.hp1 HG03540.hp2 HG03579.hp1 HG04228.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0280 a0001c0001t0002g0281 others(5): Show a0001c0001t0002g0027 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0291	9	338	0.0266	-14	c.117 others(33): Show c.1174-2327_1174-2314delTGTGTGTGAGAGAG	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4758631	TGTGTGTG others(7): Show TGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	338	0.0030	-14	c.117 others(33): Show c.1174-2325_1174-2312delTGTGTGAGAGAGAG	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4758633	TGTGTGAG others(7): Show TGTGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18939.hp1 NA18949.hp1 HG00609.hp1 NA18939.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0018 a0002c0002 a0002c0018	a0002c0002t0002 a0002c0018t0002 a0002c0002t0002 a0002c0018t0002	a0002c0002t0002g0020 a0002c0002t0002g0134 a0002c0018t0002g0020 a0002c0002t0002g0020 a0002c0002t0002g0134 a0002c0018t0002g0020	3	338	0.0089	-14	c.117 others(33): Show c.1174-2323_1174-2310delTGTGAGAGAGAGAG	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4764530	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp1 others(103): Show HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA20300.hp1 NA21309.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0006 a0009 a0014	a0002c0002 a0002c0018 a0002c0020 others(6): Show a0002c0002 a0002c0018 a0002c0020 a0003c0016 a0005c0006 a0005c0010 a0006c0007 a0009c0013 a0014c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0018t0002 a0002c0020t0002 a0003c0016t0002 a0005c0006t0002 a0005c0010t0002 a0006c0007t0002 a0009c0013t0002 a0014c0015t0002	a0002c0002t0001g0008 a0002c0002t0001g0102 a0002c0002t0002g0001 others(83): Show a0002c0002t0001g0008 a0002c0002t0001g0102 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0140 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0278 a0002c0002t0007g0138 a0002c0002t0007g0139 a0002c0018t0002g0020 a0002c0020t0002g0144 a0003c0016t0002g0001 a0005c0006t0002g0031 a0005c0006t0002g0060 a0005c0006t0002g0210 a0005c0006t0002g0277 a0005c0010t0002g0019 a0006c0007t0002g0007 a0009c0013t0002g0279 a0009c0013t0002g0295 a0014c0015t0002g0162	106	338	0.3136	-14	c.159 others(31): Show c.1593+501_1593+514delTTTTTTTTTTTTTT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT9_chr12_132191372_132334589	132210815	TGGTCGCC others(7): Show TGGTCGCCGTCTGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(10): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03942.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0016 a0001c0017 a0001c0019 a0005c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0006t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003 a0005c0023t0005	a0001c0001t0001g0072 a0001c0002t0001g0081 a0001c0002t0005g0066 others(10): Show a0001c0001t0001g0072 a0001c0002t0001g0081 a0001c0002t0005g0066 a0001c0004t0001g0154 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0005c0023t0005g0028	13	183	0.0710	-14	c.107 others(33): Show c.1078-7139_1078-7126delTCCAGACGGCGACC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132257444	ATGCCCTC others(7): Show ATGCCCTCATCCCCG	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0182 a0001c0008t0002g0182	1	183	0.0055	-14	c.959 others(29): Show c.959+231_959+244delCGGGGATGAGGGCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	5/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132257492	GTCCTCAT others(7): Show GTCCTCATGCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(140): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0025 a0001c0027 a0001c0028 a0001c0030 a0001c0035 a0001c0036 a0001c0039 a0001c0040 a0002c0032 a0004c0024 a0006c0037	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(30): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0008t0002 a0001c0009t0002 a0001c0010t0001 a0001c0012t0002 a0001c0013t0004 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0021t0004 a0001c0022t0001 a0001c0025t0012 a0001c0027t0001 a0001c0028t0001 a0001c0030t0001 a0001c0035t0009 a0001c0036t0003 a0001c0039t0006 a0001c0040t0007 a0002c0032t0002 a0004c0024t0001 a0006c0037t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(140): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0001g0123 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0005t0001g0031 a0001c0005t0001g0037 a0001c0005t0001g0088 a0001c0005t0001g0113 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0097 a0001c0006t0001g0142 a0001c0007t0001g0015 a0001c0007t0001g0061 a0001c0007t0001g0104 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0012t0002g0179 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0013t0004g0036 a0001c0015t0001g0024 a0001c0015t0001g0067 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0018t0001g0039 a0001c0018t0001g0047 a0001c0019t0003g0077 a0001c0021t0004g0155 a0001c0022t0001g0120 a0001c0025t0012g0048 a0001c0027t0001g0082 a0001c0028t0001g0144 a0001c0030t0001g0110 a0001c0035t0009g0140 a0001c0036t0003g0055 a0001c0039t0006g0001 a0001c0040t0007g0002 a0002c0032t0002g0167 a0004c0024t0001g0160 a0006c0037t0001g0010	143	183	0.7814	-14	c.959 others(29): Show c.959+183_959+196delTGAGGGCATGAGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	5/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132257533	ATCCCCAC others(7): Show ATCCCCACGCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0014 a0001c0001t0001 a0001c0026t0014	a0001c0001t0001g0149 a0001c0026t0014g0052 a0001c0001t0001g0149 a0001c0026t0014g0052	2	183	0.0109	-14	c.959 others(29): Show c.959+142_959+155delCGAGGGCGTGGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	5/10			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151995347	AATTTTTT others(7): Show AATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(86): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG03041.hp2 HG03098.hp1 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19068.hp2 NA19085.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0016 a0017	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0010c0010 a0011c0017 a0016c0014 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001 a0010c0010t0001 a0011c0017t0002 a0016c0014t0002 a0017c0015t0001	a0001c0001t0001g0226 a0001c0001t0001g0258 a0001c0001t0002g0149 others(84): Show a0001c0001t0001g0226 a0001c0001t0001g0258 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0002c0002t0001g0002 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0200 a0002c0002t0001g0290 a0002c0002t0001g0297 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0355 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0164 a0002c0002t0002g0176 a0002c0002t0002g0308 a0002c0002t0002g0327 a0002c0002t0002g0330 a0003c0003t0001g0001 a0003c0003t0001g0195 a0003c0003t0001g0198 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0233 a0003c0003t0001g0240 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0252 a0003c0003t0001g0295 a0003c0003t0001g0304 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0002g0111 a0003c0003t0002g0156 a0003c0003t0002g0310 a0003c0003t0002g0312 a0004c0004t0001g0100 a0006c0006t0001g0028 a0010c0010t0001g0253 a0010c0010t0001g0254 a0011c0017t0002g0148 a0016c0014t0002g0124 a0017c0015t0001g0055	89	384	0.2318	-14	c.659 others(31): Show c.659-7366_659-7353delATTTTTTTTTTTTT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8			chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151995348	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	384	0.0026	-14	c.659 others(31): Show c.659-7337_659-7324delTTTTTTTTTTTTTT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	171923786	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	40	0.0250	-14	c.138 others(35): Show c.138+109096_138+109109delGTGTGTGTGTGTGT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172264555	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02965.hp1 others(1): Show HG02647.hp1 HG02723.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0011 a0001c0001t0002g0025 a0001c0001t0009g0024 others(1): Show a0001c0001t0001g0011 a0001c0001t0002g0025 a0001c0001t0009g0024 a0001c0001t0010g0021	4	40	0.1000	-14	c.247 others(33): Show c.247+34816_247+34829delATATATATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172759799	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	40	0.0250	-14	c.554 others(33): Show c.554-49527_554-49514delTTTTTTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172824363	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0008 a0001c0001t0009g0024 a0001c0001t0002g0008 a0001c0001t0009g0024	2	40	0.0500	-14	c.923 others(33): Show c.923+10654_923+10667delAGTGTGTGTGTGTG	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172861318	CATGTGTG others(7): Show CATGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	40	0.0250	-14	c.924 others(33): Show c.924-21471_924-21458delATGTGTGTGTGTGT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	7/12			chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172917266	TAAATGTT others(7): Show TAAATGTTAGACCTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0031 a0001c0001t0011g0031	1	40	0.0250	-14	c.104 others(35): Show c.1042-13891_1042-13878delTGTTAGACCTAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALP_chr19_56171008_56190775	56174025	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0039	1	444	0.0023	-14	c.-20 others(25): Show c.-2076_-2063delGTGTGTGTGTGTGT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding		1982		chr19	TogoVar
GALP_chr19_56171008_56190775	56180911	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 HG01517.hp2 HG00733.hp1 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0037 a0002c0003t0003g0293 a0002c0003t0003g0037 a0002c0003t0003g0293	3	444	0.0068	-14	c.136 others(29): Show c.136+281_136+294delCTTTTTTTTTTTTT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALT_chr9_34641675_34656035	34644300	ATTATATA others(7): Show ATTATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG02976.hp1 others(6): Show HG01496.hp2 HG01884.hp1 HG02976.hp1 HG03540.hp1 HG03579.hp1 NA18948.hp1 NA18960.hp2 NA18980.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0005t0001g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0005t0001g0001	9	416	0.0216	-14	c.-24 others(25): Show c.-2404_-2391delTTATATATATATAT	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2374		chr9	TogoVar
GALT_chr9_34641675_34656035	34644301	TTATATAT others(7): Show TTATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	416	0.0024	-14	c.-24 others(25): Show c.-2403_-2390delTATATATATATATA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2373		chr9	TogoVar
GANC_chr15_42268201_42358666	42295639	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02738.hp1 HG00738.hp1 HG02738.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0005 a0001c0001t0004 a0003c0003t0005	a0001c0001t0004g0220 a0003c0003t0005g0121 a0001c0001t0004g0220 a0003c0003t0005g0121	2	262	0.0076	-14	c.513 others(31): Show c.513-1936_513-1923delCACACACACACACA	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
GANC_chr15_42268201_42358666	42339305	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG03195.hp1 others(2): Show HG02572.hp1 HG02717.hp1 HG03195.hp1 HG03579.hp1 NA20129.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0013 a0003c0008t0006 a0003c0008t0013	a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0137 others(2): Show a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0137 a0003c0008t0013g0132 a0003c0008t0013g0135	5	262	0.0191	-14	c.184 others(31): Show c.1844-324_1844-311delCACACACACACACA	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAN_chr16_81309962_81395809	81376465	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0004 a0001c0001t0024g0004	2	384	0.0052	-14	c.150 others(31): Show c.1503-722_1503-709delGTGTGTGTGTGTGT	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAN_chr16_81309962_81395809	81376497	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02630.hp2 HG02257.hp1 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0046 a0001c0001t0047 a0001c0001t0014 a0001c0001t0046 a0001c0001t0047	a0001c0001t0014g0319 a0001c0001t0046g0293 a0001c0001t0047g0258 a0001c0001t0014g0319 a0001c0001t0046g0293 a0001c0001t0047g0258	3	384	0.0078	-14	c.150 others(31): Show c.1503-710_1503-697delGTATGTGTGTGTGT	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAP43_chr3_115618510_115726483	115652356	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	352	0.0028	-14	c.31- others(31): Show c.31-23641_31-23628delTTTTTTTTTTTTTT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115683118	TACATGTG others(7): Show TACATGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA21309.hp2 HG03688.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0207 a0001c0002t0001g0095 a0001c0001t0001g0207 a0001c0002t0001g0095	2	352	0.0057	-14	c.628 others(31): Show c.628+6509_628+6522delACATGTGCGCGCGC	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115683122	TGTGCGCG others(7): Show TGTGCGCGCGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0344 a0001c0001t0005g0344	1	352	0.0028	-14	c.628 others(31): Show c.628+6514_628+6527delTGCGCGCGCGTGCG	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698044	TATATATT others(7): Show TATATATTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0225 a0001c0001t0005g0005 a0001c0001t0001g0225 a0001c0001t0005g0005	2	352	0.0057	-14	c.628 others(33): Show c.628+21441_628+21454delTATATAAAATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698109	ATATATAA others(7): Show ATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 NA19043.hp2 HG02280.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0306 a0001c0001t0002g0243 a0001c0001t0001g0242 a0001c0001t0001g0306 a0001c0001t0002g0243	3	352	0.0085	-14	c.628 others(33): Show c.628+21506_628+21519delATATATATTATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115716711	CAGACAAA others(7): Show CAGACAAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG01256.hp2 others(3): Show HG00733.hp2 HG01192.hp1 HG01256.hp2 HG02809.hp1 HG03239.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0092 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0018g0335	6	352	0.0171	-14	c.629 others(31): Show c.629-4081_629-4068delGACAAATATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115716717	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02055.hp2 others(3): Show HG01081.hp2 HG01109.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0349 a0001c0001t0005g0012 a0001c0001t0005g0278 others(3): Show a0001c0001t0001g0349 a0001c0001t0005g0012 a0001c0001t0005g0278 a0001c0001t0005g0299 a0001c0001t0005g0340 a0001c0001t0005g0348	6	352	0.0171	-14	c.629 others(31): Show c.629-4039_629-4026delTATATATATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115716759	TATATATA others(7): Show TATATATATACAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	352	0.0028	-14	c.629 others(31): Show c.629-4033_629-4020delTATATATACAGAGA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115716761	TATATATA others(7): Show TATATATACAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	352	0.0028	-14	c.629 others(31): Show c.629-4031_629-4018delTATATACAGAGAGA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293852	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0035 a0001c0004t0001g0035	1	340	0.0029	-14	c.-14 others(33): Show c.-149-1567_-149-1554delTATATATATATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300038	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01993.hp2 HG02074.hp1 others(13): Show HG00738.hp1 HG01993.hp2 HG02074.hp1 HG02300.hp2 HG02486.hp2 HG03710.hp2 NA18939.hp2 NA18966.hp1 NA18970.hp2 NA18979.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19002.hp1 NA19060.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 a0001c0002t0003 a0001c0002t0007 a0001c0003t0006	a0001c0001t0001g0323 a0001c0001t0002g0153 a0001c0001t0002g0309 others(13): Show a0001c0001t0001g0323 a0001c0001t0002g0153 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0015g0060 a0001c0001t0021g0189 a0001c0002t0003g0005 a0001c0002t0003g0127 a0001c0002t0003g0130 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0007g0137 a0001c0003t0006g0163	16	340	0.0471	-14	c.185 others(29): Show c.185+975_185+988delATATATATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125338927	ATTTGTGT others(7): Show ATTTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03710.hp2 HG02055.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0026 a0001c0003t0006 a0001c0003t0026	a0001c0003t0006g0163 a0001c0003t0026g0118 a0001c0003t0006g0163 a0001c0003t0026g0118	2	340	0.0059	-14	c.287 others(33): Show c.2877+1338_2877+1351delTTGTGTGTGTGTGT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32364014	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	192	0.0052	-14	c.262 others(33): Show c.262+28867_262+28880delCATATATATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar

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