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
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0021 a0001c0001t0037g0021	1	282	0.0036	32	c.-63 others(41): Show c.-634_-633insCACACACACACACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAGE12H_chrX_49574949_49592301	49583277	T T	TTCCTTTC others(25): Show TTCCTTTCTTCCTAAAGTTCAGTGCAGTTATCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0023 a0008c0010t0010g0023	1	116	0.0086	32	c.206 others(49): Show c.206-1317_206-1286dupCCTTTCTTCCTAAAGTTCAGTGCAGTTA TCAT	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCGG others(25): Show CCTCCCGGCTCACCTGCAGTCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0069 a0001c0004t0001g0069	1	390	0.0026	32	c.145 others(49): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCCG GGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST4_chr7_100154244_100173617	100172715	A A	ATATACAC others(25): Show ATATACACGTATATATATGTGTATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	402	0.0025	32	c.-43 others(43): Show c.-4390_-4359dupCACATATATATACACATATATATACGTGTATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4099		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172725	A A	ATATATAT others(25): Show ATATATATGTGTATATATATGTATATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19065.hp2 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0015 a0001c0001t0001g0026	2	402	0.0050	32	c.-43 others(43): Show c.-4369_-4368insCGTGTATATATACATATATATACACATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4109		chr7	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp1 NA19074.hp1 HG00597.hp2 HG02071.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0167 a0002c0004t0002g0279 a0002c0004t0002g0289 a0002c0002t0002g0167 a0002c0004t0002g0279 a0002c0004t0002g0289	3	370	0.0081	32	c.191 others(51): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0066 a0001c0001t0015g0066	1	348	0.0029	32	c.267 others(49): Show c.267-7163_267-7162insATATATATATATATATATATATATACAT ATAT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299709	G G	GCTTTCTT others(25): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	348	0.0029	32	c.967 others(49): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0209 a0001c0002t0038g0209	1	348	0.0029	32	c.967 others(49): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCCTT TCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	348	0.0029	32	c.967 others(49): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02886.hp1 HG03017.hp2 others(1): Show HG00642.hp2 HG02886.hp1 HG03017.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0003 a0001c0002t0025 a0001c0001t0018 a0001c0002t0003 a0001c0002t0025	a0001c0001t0018g0117 a0001c0002t0003g0158 a0001c0002t0003g0160 others(1): Show a0001c0001t0018g0117 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0025g0129	4	348	0.0115	32	c.967 others(49): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0116 a0001c0001t0049g0116	1	348	0.0029	32	c.967 others(49): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTTCTT TCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38686241	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	328	0.0031	32	c.553 others(49): Show c.553-3541_553-3540insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19011.hp1 NA19240.hp2 HG02738.hp2 NA19011.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0037 a0001c0001t0005 a0001c0001t0020 a0001c0001t0037	a0001c0001t0005g0101 a0001c0001t0020g0120 a0001c0001t0037g0115 a0001c0001t0005g0101 a0001c0001t0020g0120 a0001c0001t0037g0115	3	214	0.0140	32	c.-17 others(53): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT ATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0070 a0001c0001t0019g0070	1	214	0.0047	32	c.142 others(51): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01256.hp1 HG01934.hp2 others(10): Show HG01169.hp1 HG01256.hp1 HG01934.hp2 HG02080.hp2 HG02559.hp1 HG03098.hp1 HG03130.hp1 HG04199.hp1 NA18612.hp1 NA18939.hp2 NA18975.hp1 NA19004.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0039 a0001c0001t0040	a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0003 others(10): Show a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0003 a0001c0001t0005g0103 a0001c0001t0010g0191 a0001c0001t0010g0201 a0001c0001t0010g0202 a0001c0001t0011g0093 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0013g0151 a0001c0001t0039g0105 a0001c0001t0040g0082	13	214	0.0608	32	c.975 others(51): Show c.975+10787_975+10788insATATATATATATATATATATATATAT ATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03098.hp2 HG03688.hp2 HG02273.hp1 HG03098.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0058 a0001c0001t0001 a0001c0001t0011 a0001c0001t0058	a0001c0001t0001g0056 a0001c0001t0011g0122 a0001c0001t0058g0034 a0001c0001t0001g0056 a0001c0001t0011g0122 a0001c0001t0058g0034	3	214	0.0140	32	c.975 others(51): Show c.975+10769_975+10770insGTATATATATATATATATATATATAT ATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA18969.hp1 HG00099.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0344 a0001c0001t0001g0250 a0001c0001t0001g0344	2	388	0.0052	32	c.55 others(43): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT17_chr7_71127144_71718599	71162144	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0024 a0001c0001t0021g0010 a0001c0001t0002g0024 a0001c0001t0021g0010	2	76	0.0263	32	c.238 others(51): Show c.238+29130_238+29131insTCCTTTCTTCCTTCCTTCCTTCCTTC CTTCCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp2 HG02896.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0021 a0001c0001t0017 a0001c0001t0021	a0001c0001t0017g0047 a0001c0001t0021g0010 a0001c0001t0017g0047 a0001c0001t0021g0010	2	76	0.0263	32	c.238 others(51): Show c.238+68200_238+68201insATATATATATATATATATATATATAT ATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71245848	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	76	0.0132	32	c.239 others(51): Show c.239-89686_239-89685insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	76	0.0132	32	c.239 others(51): Show c.239-70431_239-70430insATATATATATATATATATATATATTT TTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATCTTTCT others(25): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 HG01243.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0019 a0001c0001t0017 a0001c0002t0019	a0001c0001t0017g0047 a0001c0002t0019g0017 a0001c0001t0017g0047 a0001c0002t0019g0017	2	76	0.0263	32	c.239 others(51): Show c.239-16425_239-16424insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71321902	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0076 a0001c0001t0015g0076	1	76	0.0132	32	c.239 others(51): Show c.239-13627_239-13626insTTCCTTCCTTTCTTCCTTCCTTCCTT CCTTCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693307	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0049 a0001c0001t0011g0049	1	76	0.0132	32	c.150 others(53): Show c.1500+16002_1500+16003insTATATATATATATATATATATATA TATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693309	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02040.hp1 HG01258.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0036 a0001c0001t0012g0014 a0001c0001t0011g0036 a0001c0001t0012g0014	2	76	0.0263	32	c.150 others(53): Show c.1500+16015_1500+16016insATATATATATATATATATATATAT ATATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230175601	G G	GTCCTCCT others(25): Show GTCCTCCTCCTCCTCCTCCCCCTCCCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19010.hp1 NA19085.hp2 NA18952.hp1 NA19010.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0149 a0001c0002t0001g0182 a0001c0002t0001g0210 a0001c0001t0001g0149 a0001c0002t0001g0182 a0001c0002t0001g0210	3	324	0.0093	32	c.127 others(49): Show c.127-2605_127-2604insTCCTCCCCCTCCCTCTCCCCTCCTCCTC CTCC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230227533	C C	CTATATAT others(25): Show CTATATATATATATATGCTATATAATACAGCTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18973.hp1 NA18977.hp2 others(3): Show NA18948.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA19010.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0029 a0001c0001t0003g0082 others(3): Show a0001c0001t0003g0024 a0001c0001t0003g0029 a0001c0001t0003g0082 a0001c0001t0003g0141 a0001c0001t0003g0169 a0001c0001t0003g0175	6	324	0.0185	32	c.375 others(49): Show c.375-8468_375-8467insATGCTATATAATACAGCTATATATATAT ATAT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT5_chr2_157252705_157323491	157256569	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0191 a0002c0003t0023g0191	1	282	0.0036	32	c.-15 others(43): Show c.-1514_-1513insAAAAAAAAAAAAAAAAAAATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0182 a0004c0006t0013g0182	1	282	0.0036	32	c.174 others(51): Show c.1741+3979_1741+3980insTATATATATATATATATATATATACA CACACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0206 a0002c0005t0017g0206	1	282	0.0036	32	c.174 others(51): Show c.1741+3979_1741+3980insTATATATATATATATATATATATATA CACACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT7_chr4_173163811_173328967	173216706	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	266	0.0038	32	c.127 others(51): Show c.127-31252_127-31251insATATATATATATATATATATATATAT ATATAT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132240555	A A	AGCTGTGG others(25): Show AGCTGTGGGCTCCGTGCGTGGCCCCGGGGCTCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(8): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18952.hp2 NA18964.hp2 NA18999.hp2 NA19002.hp2 NA19067.hp1 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0001c0013 a0001c0020 others(3): Show a0001c0011 a0001c0013 a0001c0020 a0001c0034 a0001c0039 a0003c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(3): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0034t0004 a0001c0039t0006 a0003c0033t0001	a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 others(8): Show a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0129 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0020t0001g0115 a0001c0034t0004g0158 a0001c0039t0006g0001 a0003c0033t0001g0114	11	183	0.0601	32	c.107 others(51): Show c.1077+7323_1077+7354dupCGAGCCCCGGGGCCACGCACGGAGCC CACAGC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303507	G G	GCCTGGGC others(25): Show GCCTGGGCACACCCTCACCCAGACACACCCTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00673.hp1 others(4): Show HG00408.hp1 HG00609.hp1 HG00673.hp1 NA18953.hp1 NA18971.hp1 NA18999.hp2 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0011 others(1): Show a0001c0002 a0001c0004 a0001c0011 a0003c0033	a0001c0002t0001 a0001c0004t0001 a0001c0011t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0011t0001 a0003c0033t0001	a0001c0002t0001g0025 a0001c0002t0001g0130 a0001c0004t0001g0076 others(4): Show a0001c0002t0001g0025 a0001c0002t0001g0130 a0001c0004t0001g0076 a0001c0004t0001g0121 a0001c0011t0001g0116 a0001c0011t0001g0129 a0003c0033t0001g0114	7	183	0.0383	32	c.239 others(51): Show c.239-17078_239-17077insTGAGGGTGTGTCTGGGTGAGGGTGTG CCCAGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303606	C C	CGGGCACA others(25): Show CGGGCACAGAATCGCCCAGACACACCCTCTCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	32	c.239 others(51): Show c.239-17177_239-17176insCGGAGAGGGTGTGTCTGGGCGATTCT GTGCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303843	A A	ACCCAGAC others(25): Show ACCCAGACACAGCCTCACCTGGGCACAGCCTCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	32	c.239 others(51): Show c.239-17414_239-17413insCGAGGCTGTGCCCAGGTGAGGCTGTG TCTGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304814	C C	CCCTCACC others(25): Show CCCTCACCCGGGCACACCCTCACCCAGACACAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(29): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG01109.hp2 HG01361.hp1 HG01981.hp2 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03688.hp2 HG06807.hp2 NA18952.hp2 NA18953.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA19002.hp2 NA19004.hp1 NA19012.hp1 NA19063.hp1 NA19080.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0019 a0001c0020 a0001c0022 a0003c0033	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0012t0002 a0001c0013t0004 a0001c0015t0001 a0001c0019t0003 a0001c0020t0001 a0001c0022t0001 a0003c0033t0001	a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0111 others(29): Show a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0008g0003 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0004t0001g0076 a0001c0004t0001g0121 a0001c0005t0001g0113 a0001c0011t0001g0129 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0015t0001g0067 a0001c0019t0003g0145 a0001c0020t0001g0115 a0001c0022t0001g0120 a0003c0033t0001g0114	32	183	0.1749	32	c.239 others(51): Show c.239-18385_239-18384insCTGTGTCTGGGTGAGGGTGTGCCCGG GTGAGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305193	A A	ACACACCC others(25): Show ACACACCCTCACCTGGGCACAGCCTCGCCCGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	183	0.0055	32	c.239 others(51): Show c.239-18764_239-18763insCCCGGGCGAGGCTGTGCCCAGGTGAG GGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305293	G G	GCCCTCAC others(25): Show GCCCTCACCCGGGCACAGCCTCACCCGGGCACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	32	c.239 others(51): Show c.239-18864_239-18863insTGTGCCCGGGTGAGGCTGTGCCCGGG TGAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172528952	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 NA18906.hp1 HG02145.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0002g0039 a0001c0001t0006g0020 a0001c0003t0001g0005 a0001c0001t0002g0039 a0001c0001t0006g0020 a0001c0003t0001g0005	3	40	0.0750	32	c.553 others(53): Show c.553+180275_553+180276insATATATATATATATATATATATAT ATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172745446	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp2 HG02647.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0019 a0001c0002t0002g0007 a0001c0001t0003g0019 a0001c0002t0002g0007	2	40	0.0500	32	c.554 others(51): Show c.554-63914_554-63913insTATATATATATATATATATATATATA CACACA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	173022070	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	40	0.0250	32	c.163 others(49): Show c.1638+456_1638+457insAGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	173022070	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0013 a0001c0001t0012g0027 a0001c0001t0004g0013 a0001c0001t0012g0027	2	40	0.0500	32	c.163 others(49): Show c.1638+460_1638+461insAGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	173022086	G G	GGAAGGAA others(25): Show GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0038 a0001c0004t0002g0038	1	40	0.0250	32	c.163 others(49): Show c.1638+464_1638+465insGGAAAGAAGGAAGGAAGGAAGGAAGGAA AGAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77258903	T T	TTATGGTG others(25): Show TTATGGTGGTGATGATGGCAATTGTGATAGTGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0309 a0001c0001t0057g0309	1	366	0.0027	32	c.732 others(49): Show c.732+2680_732+2681insTATGGTGGTGATGATGGCAATTGTGATA GTGA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GALR1_chr18_77244848_77282900	77258903	T T	TTGTGGTG others(25): Show TTGTGGTGGTGATGATGGCAATTGTGATAGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18995.hp1 HG00408.hp2 NA18995.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0007 a0003c0005t0012 a0001c0002t0007 a0003c0005t0012	a0001c0002t0007g0173 a0003c0005t0012g0030 a0001c0002t0007g0173 a0003c0005t0012g0030	2	366	0.0055	32	c.732 others(49): Show c.732+2680_732+2681insTGTGGTGGTGATGATGGCAATTGTGATA GTGA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2			chr18	TogoVar
GALR1_chr18_77244848_77282900	77281061	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0320 a0001c0004t0028g0321 a0001c0004t0028g0320 a0001c0004t0028g0321	2	366	0.0055	32	c.12 others(45): Show c.12159_*12160insTATATATATATATATATATATATATATATATA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3162		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01123.hp2 others(8): Show HG00408.hp2 HG01123.hp1 HG01123.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG03942.hp2 NA18956.hp2 NA18966.hp1 NA18980.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0006 a0001c0001t0016 a0001c0001t0080 others(6): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0080 a0001c0001t0105 a0001c0002t0004 a0001c0002t0007 a0001c0002t0018 a0001c0002t0059 a0003c0005t0012	a0001c0001t0006g0053 a0001c0001t0016g0066 a0001c0001t0080g0304 others(8): Show a0001c0001t0006g0053 a0001c0001t0016g0066 a0001c0001t0080g0304 a0001c0001t0105g0035 a0001c0002t0004g0206 a0001c0002t0007g0148 a0001c0002t0007g0173 a0001c0002t0018g0213 a0001c0002t0059g0020 a0003c0005t0012g0050 a0003c0005t0012g0064	11	366	0.0301	32	c.12 others(45): Show c.12160_*12161insATATATATATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0026 a0001c0002t0063g0026	1	366	0.0027	32	c.12 others(45): Show c.12188_*12189insATATATATATATATATATATATATATATATAA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar
GAPVD1_chr9_125256826_125372207	125293870	A A	ATTTTATA others(25): Show ATTTTATATATATATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	340	0.0029	32	c.-14 others(51): Show c.-149-1587_-149-1586insTTTATATATATATATATATATAAATA TATTTT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar

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