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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
B3GAT2_chr6_70851679_70962060	70902617	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18951.hp1 NA18962.hp2 others(2): Show HG02132.hp1 NA18951.hp1 NA18962.hp2 NA18974.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0031 a0001c0002t0092 a0001c0002t0030 a0001c0002t0031 a0001c0002t0092	a0001c0002t0030g0263 a0001c0002t0030g0264 a0001c0002t0030g0302 others(2): Show a0001c0002t0030g0263 a0001c0002t0030g0264 a0001c0002t0030g0302 a0001c0002t0031g0267 a0001c0002t0092g0265	5	316	0.0158	18	c.592 others(35): Show c.592-8363_592-8346dupATATATATATATATATAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(11): Show ATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	268	0.0037	18	c.-38 others(29): Show c.-3878_-3877insTATATATATATATATTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18993.hp1 NA19081.hp2 others(1): Show NA18944.hp1 NA18993.hp1 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0119 a0001c0001t0006g0048 a0001c0001t0006g0049 others(1): Show a0001c0001t0004g0119 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0054	4	268	0.0149	18	c.-38 others(29): Show c.-3878_-3877insTATATATATATATTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02148.hp2 NA19056.hp1 HG01943.hp1 HG02148.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022	a0001c0001t0006g0042 a0001c0001t0014g0036 a0001c0001t0022g0050 a0001c0001t0006g0042 a0001c0001t0014g0036 a0001c0001t0022g0050	3	268	0.0112	18	c.-38 others(29): Show c.-3878_-3877insTATATATATATTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	268	0.0037	18	c.-38 others(29): Show c.-3878_-3877insTATATATATTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	268	0.0037	18	c.-38 others(29): Show c.-3878_-3877insTATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG00558.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0070 a0001c0001t0010g0003 a0001c0001t0001g0070 a0001c0001t0010g0003	2	268	0.0075	18	c.-38 others(29): Show c.-3878_-3877insTATATTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31253595	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0182 a0002c0002t0004g0182	1	268	0.0037	18	c.459 others(35): Show c.459+5638_459+5655dupAAAAAAAAAAAAAAAAAA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02015.hp2 HG02055.hp1 others(7): Show HG01123.hp2 HG02015.hp2 HG02055.hp1 HG02886.hp1 HG06807.hp1 NA18612.hp1 NA18945.hp2 NA18970.hp2 NA19060.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0013t0001 a0002c0002t0011 others(1): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0011 a0002c0003t0003	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0043 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0156 a0001c0013t0001g0262 a0002c0002t0011g0007 a0002c0003t0003g0026	10	268	0.0373	18	c.106 others(37): Show c.1065-1152_1065-1135dupTATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp1 HG02257.hp1 others(3): Show HG01358.hp2 HG01891.hp1 HG02257.hp1 HG02615.hp1 HG03516.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0008 a0002c0002 a0002c0003 a0002c0008	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0008t0002	a0002c0002t0002g0065 a0002c0002t0002g0132 a0002c0002t0003g0244 others(3): Show a0002c0002t0002g0065 a0002c0002t0002g0132 a0002c0002t0003g0244 a0002c0002t0003g0246 a0002c0003t0002g0171 a0002c0008t0002g0063	6	268	0.0224	18	c.106 others(37): Show c.1065-1158_1065-1157insTTATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp1 others(32): Show HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01168.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02056.hp1 HG02148.hp1 HG02280.hp2 HG02622.hp2 HG02895.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18968.hp1 NA19007.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0004c0005 a0007c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0038 a0001c0003t0008 a0003c0004t0011 a0004c0005t0020 a0004c0005t0029 a0004c0005t0030 a0007c0008t0005	a0001c0001t0002g0034 a0001c0001t0002g0127 a0001c0001t0002g0140 others(27): Show a0001c0001t0002g0034 a0001c0001t0002g0127 a0001c0001t0002g0140 a0001c0001t0003g0024 a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0147 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0005g0040 a0001c0001t0005g0128 a0001c0001t0005g0240 a0001c0001t0005g0242 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0009g0193 a0001c0001t0010g0114 a0001c0001t0016g0038 a0001c0001t0016g0246 a0001c0001t0024g0196 a0001c0001t0027g0158 a0001c0001t0038g0138 a0001c0003t0008g0115 a0003c0004t0011g0043 a0004c0005t0020g0264 a0004c0005t0029g0051 a0004c0005t0030g0237 a0007c0008t0005g0255	35	406	0.0862	18	c.-50 others(33): Show c.-50-630_-50-613dupGTGTGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp2 others(40): Show HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG01099.hp2 HG01928.hp1 HG02015.hp2 HG02040.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02698.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18991.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19067.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0035 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0230 a0001c0001t0001g0236 a0004c0003t0001g0100	43	390	0.1103	18	c.-30 others(35): Show c.-301-267_-301-250dupTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82940219	G G	GCACACAC others(11): Show GCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01192.hp2 others(8): Show HG00423.hp1 HG01106.hp2 HG01192.hp2 HG01981.hp2 HG02132.hp1 NA18747.hp1 NA19004.hp2 NA19007.hp2 NA19070.hp2 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0004 a0001c0002t0002 a0001c0003t0004 others(3): Show a0001c0001t0004 a0001c0002t0002 a0001c0003t0004 a0001c0004t0002 a0001c0006t0002 a0001c0007t0004	a0001c0001t0004g0245 a0001c0002t0002g0075 a0001c0002t0002g0081 others(8): Show a0001c0001t0004g0245 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0131 a0001c0003t0004g0189 a0001c0003t0004g0217 a0001c0004t0002g0050 a0001c0006t0002g0031 a0001c0007t0004g0241	11	266	0.0414	18	c.38 others(29): Show c.3854_*3855insTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1929		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(11): Show GCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02165.hp1 NA18963.hp2 others(1): Show HG00609.hp1 HG02165.hp1 NA18963.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0022 a0001c0002t0008 a0001c0006t0008 a0001c0001t0022 a0001c0002t0008 a0001c0006t0008	a0001c0001t0022g0239 a0001c0002t0008g0108 a0001c0002t0008g0111 others(1): Show a0001c0001t0022g0239 a0001c0002t0008g0108 a0001c0002t0008g0111 a0001c0006t0008g0020	4	266	0.0150	18	c.38 others(29): Show c.3835_*3852dupTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0219 a0001c0003t0021g0219	1	266	0.0038	18	c.38 others(29): Show c.3852_*3853insTGTGTGTGTGTGTGTGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946567	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	266	0.0038	18	c.24 others(33): Show c.24+311_*24+312insACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02056.hp2 HG02572.hp1 others(13): Show HG00558.hp1 HG02056.hp2 HG02572.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp1 NA19070.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0014 a0002c0010 a0004c0017 a0004c0019	a0001c0001t0010 a0001c0001t0027 a0001c0002t0002 others(9): Show a0001c0001t0010 a0001c0001t0027 a0001c0002t0002 a0001c0003t0004 a0001c0006t0002 a0001c0006t0018 a0001c0006t0033 a0001c0011t0010 a0001c0014t0018 a0002c0010t0007 a0004c0017t0002 a0004c0019t0004	a0001c0001t0010g0185 a0001c0001t0027g0184 a0001c0002t0002g0081 others(13): Show a0001c0001t0010g0185 a0001c0001t0027g0184 a0001c0002t0002g0081 a0001c0002t0002g0131 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0006t0002g0024 a0001c0006t0018g0015 a0001c0006t0033g0044 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0014t0018g0049 a0002c0010t0007g0222 a0004c0017t0002g0136 a0004c0017t0002g0137 a0004c0019t0004g0193	16	266	0.0602	18	c.24 others(33): Show c.24+309_*24+310insACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49170864	G G	GGAAACAA others(11): Show GGAAACAAAGGGATGGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp2 NA19074.hp2 NA19009.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0283 a0001c0001t0018g0286 a0001c0001t0018g0283 a0001c0001t0018g0286	2	380	0.0053	18	c.11 others(29): Show c.1154_*1171dupCGAAACAAAGGGATGGGC	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	11/11	1172	INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	456435	C C	CAGATATA others(11): Show CAGATATAGATATAGATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	394	0.0025	18	c.-39 others(29): Show c.-3942_-3941insAGATATAGATATAGATAT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding		3503		chr12	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02109.hp1 HG02486.hp1 others(10): Show HG01074.hp1 HG02109.hp1 HG02486.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0013 a0002c0003 others(5): Show a0001c0001 a0001c0013 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0008	a0001c0001t0002 a0001c0001t0046 a0001c0001t0061 others(10): Show a0001c0001t0002 a0001c0001t0046 a0001c0001t0061 a0001c0013t0001 a0002c0003t0050 a0003c0004t0002 a0003c0004t0038 a0003c0004t0064 a0004c0005t0016 a0005c0006t0016 a0006c0007t0037 a0006c0007t0039 a0007c0008t0017	a0001c0001t0002g0126 a0001c0001t0046g0312 a0001c0001t0061g0166 others(10): Show a0001c0001t0002g0126 a0001c0001t0046g0312 a0001c0001t0061g0166 a0001c0013t0001g0128 a0002c0003t0050g0278 a0003c0004t0002g0297 a0003c0004t0038g0148 a0003c0004t0064g0286 a0004c0005t0016g0295 a0005c0006t0016g0188 a0006c0007t0037g0211 a0006c0007t0039g0301 a0007c0008t0017g0147	13	394	0.0330	18	c.170 others(37): Show c.170-34298_170-34281dupTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	552292	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0027 a0007c0008t0068 a0007c0008t0007 a0007c0008t0027 a0007c0008t0068	a0007c0008t0007g0187 a0007c0008t0027g0144 a0007c0008t0068g0308 a0007c0008t0007g0187 a0007c0008t0027g0144 a0007c0008t0068g0308	3	394	0.0076	18	c.120 others(35): Show c.1209-148_1209-131dupACACACACACACACACAC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	552335	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0037 a0007c0008t0037	a0007c0008t0037g0114 a0007c0008t0037g0114	1	394	0.0025	18	c.120 others(35): Show c.1209-131_1209-130insACACACACACACACACCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369967	G G	GGGCGCGG others(11): Show GGGCGCGGGGGGCGGGGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0181 a0002c0008t0001g0181	1	184	0.0054	18	c.151 others(31): Show c.151+26_151+27insGGGGCGGCGCGGGGGGCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	370003	G G	GGGCGCGG others(11): Show GGGCGCGGGGGGCGCGGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA19087.hp2 HG03490.hp1 HG03492.hp2 NA19087.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0016 a0001c0001 a0002c0002 a0012c0016	a0001c0001t0001 a0002c0002t0001 a0012c0016t0001 a0001c0001t0001 a0002c0002t0001 a0012c0016t0001	a0001c0001t0001g0107 a0002c0002t0001g0106 a0012c0016t0001g0108 a0001c0001t0001g0107 a0002c0002t0001g0106 a0012c0016t0001g0108	3	184	0.0163	18	c.151 others(31): Show c.151+76_151+93dupGGGCGCGGGCGGCGCGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp1 HG02080.hp2 others(15): Show HG01261.hp1 HG01361.hp1 HG02080.hp2 HG02135.hp1 HG02970.hp2 HG03225.hp2 HG03834.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19043.hp1 NA19060.hp2 NA19068.hp1 NA19086.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0001c0001t0041 a0001c0001t0052 a0001c0001t0056 a0001c0002t0022 a0004c0004t0002	a0001c0001t0002g0215 a0001c0001t0002g0236 a0001c0001t0002g0237 others(15): Show a0001c0001t0002g0215 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0268 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0005g0217 a0001c0001t0028g0323 a0001c0001t0041g0201 a0001c0001t0052g0267 a0001c0001t0056g0320 a0001c0002t0022g0241 a0004c0004t0002g0216	18	366	0.0492	18	c.412 others(35): Show c.412+9677_412+9694dupGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157121	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0052 a0001c0001t0057g0052	1	366	0.0027	18	c.412 others(35): Show c.412+9619_412+9636dupGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49643922	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0178 a0001c0001t0006g0178	1	364	0.0028	18	c.365 others(33): Show c.365-290_365-273dupAAAAAAAAAAAAAAAAAA	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	3/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49685256	G G	GGAACACT others(11): Show GGAACACTTTCTCCATGTT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	364	0.0028	18	c.115 others(37): Show c.115+28302_115+28319dupAACATGGAGAAAGTGTTC	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49694658	A A	AGGAAAGG others(11): Show AGGAAAGGGAAAGGGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01123.hp1 others(21): Show HG00597.hp2 HG00621.hp2 HG01123.hp1 HG01261.hp1 HG01346.hp1 HG01993.hp1 HG02015.hp2 HG02165.hp1 HG02738.hp2 HG03834.hp1 NA18942.hp2 NA18945.hp2 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18973.hp2 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19082.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0058 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0058 a0002c0004t0005 a0002c0004t0014 a0002c0004t0031	a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0004g0107 others(21): Show a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0004g0107 a0001c0001t0004g0211 a0001c0001t0058g0108 a0002c0004t0005g0221 a0002c0004t0005g0222 a0002c0004t0005g0224 a0002c0004t0005g0225 a0002c0004t0005g0226 a0002c0004t0005g0227 a0002c0004t0005g0229 a0002c0004t0005g0230 a0002c0004t0005g0231 a0002c0004t0005g0232 a0002c0004t0005g0235 a0002c0004t0005g0236 a0002c0004t0005g0237 a0002c0004t0005g0238 a0002c0004t0005g0242 a0002c0004t0005g0245 a0002c0004t0014g0228 a0002c0004t0014g0239 a0002c0004t0031g0240	24	364	0.0659	18	c.115 others(37): Show c.115+18900_115+18917dupCTTTCCCTTTCCCTTTCC	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31688247	G G	GTATATAT others(11): Show GTATATATATATACATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG01891.hp1 others(10): Show HG01243.hp1 HG01496.hp2 HG01891.hp1 HG02258.hp1 HG02486.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0004c0004t0030	a0001c0001t0001g0207 a0001c0001t0002g0189 a0001c0001t0002g0190 others(9): Show a0001c0001t0001g0207 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0008g0186 a0001c0001t0010g0009 a0004c0004t0030g0205	13	306	0.0425	18	c.-38 others(29): Show c.-3822_-3821insTATATGTATATATATATA	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3667		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688258	T T	TACATATA others(11): Show TACATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01496.hp1 HG02004.hp2 others(29): Show HG01099.hp2 HG01496.hp1 HG02004.hp2 HG02055.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02523.hp2 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18962.hp2 NA18971.hp2 NA18978.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA19006.hp2 NA19009.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19081.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0005t0007	a0001c0001t0001g0010 a0001c0001t0001g0182 a0001c0001t0001g0192 others(24): Show a0001c0001t0001g0010 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0181 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0204 a0001c0001t0004g0255 a0001c0001t0005g0226 a0001c0001t0007g0217 a0001c0001t0008g0225 a0001c0001t0008g0246 a0001c0001t0012g0216 a0001c0001t0015g0247 a0001c0005t0007g0167	32	306	0.1046	18	c.-38 others(29): Show c.-3833_-3832insGTATATATATATATATGT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3678		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688261	A A	ATATATAT others(11): Show ATATATATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01169.hp2 others(15): Show HG00423.hp2 HG00544.hp1 HG01169.hp2 HG01192.hp2 HG01433.hp2 HG01978.hp1 HG02109.hp1 HG02615.hp1 HG02922.hp2 HG02976.hp2 HG03471.hp2 HG03516.hp1 NA18943.hp1 NA18961.hp2 NA18969.hp1 NA18979.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0265 a0001c0001t0002g0013 a0001c0001t0002g0258 others(14): Show a0001c0001t0001g0265 a0001c0001t0002g0013 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0005g0267 a0001c0001t0008g0266 a0001c0001t0010g0275 a0001c0001t0010g0276	18	306	0.0588	18	c.-38 others(29): Show c.-3836_-3835insCGTATATATATATATATA	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3681		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688262	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0021 a0001c0001t0019g0021	1	306	0.0033	18	c.-38 others(29): Show c.-3837_-3836insGTATATATATATATATAT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3682		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688272	T T	TATATACA others(11): Show TATATACATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0219 a0001c0001t0012g0219	1	306	0.0033	18	c.-38 others(29): Show c.-3847_-3846insGTATATATATATGTATAT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3692		chr18	TogoVar
B4GALT7_chr5_177595132_177615330	177600075	G G	GCGGCGGA others(11): Show GCGGCGGACCCGGCGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	458	0.0044	18	c.-13 others(27): Show c.-136_-135insCGGCGGACCCGGCGGACC	B4GALT7	ENSG00000027847.14	transcript	ENST00000029410.10	protein_coding		56		chr5	TogoVar
B9D1_chr17_19338175_19367723	19345221	A A	AGTGGGCA others(11): Show AGTGGGCAGAGGCCATGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04184.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	354	0.0057	18	c.405 others(35): Show c.405-1382_405-1365dupCTCATGGCCTCTGCCCAC	B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	5/6			chr17	TogoVar
B9D2_chr19_41349417_41369149	41351804	T T	TGGGGGGG others(11): Show TGGGGGGGGCTCGCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0093	1	360	0.0028	18	c.28 others(29): Show c.2895_*2896insGAGCAGCGAGCCCCCCCC	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding		2612		chr19	TogoVar
BABAM2_chr2_27885729_28343901	27983942	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02145.hp1 others(2): Show HG01099.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0002g0004 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007	5	158	0.0317	18	c.206 others(35): Show c.206-4049_206-4032dupTTTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28013694	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	158	0.0063	18	c.301 others(37): Show c.301-11513_301-11496dupACACACACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026971	A A	AATATATA others(11): Show AATATATATATATAAATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	158	0.0063	18	c.495 others(35): Show c.495+1558_495+1559insTATATAAATATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19077.hp2 NA19043.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0064 a0001c0001t0001g0069 a0001c0001t0002g0064	2	158	0.0127	18	c.496 others(35): Show c.496-5424_496-5407dupTTTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112137	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	158	0.0063	18	c.571 others(37): Show c.571-17123_571-17122insCTTTCTTTTTCTTTCTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112145	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	158	0.0063	18	c.571 others(37): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02738.hp1 HG03688.hp1 HG02698.hp2 HG02738.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0030 a0001c0001t0002g0114 a0001c0001t0001g0113 a0001c0001t0002g0030 a0001c0001t0002g0114	3	158	0.0190	18	c.680 others(37): Show c.680+47199_680+47216dupAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG01934.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0096 a0001c0001t0002g0029 a0001c0001t0002g0096	2	158	0.0127	18	c.681 others(37): Show c.681-53445_681-53428dupACACACACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	158	0.0063	18	c.681 others(37): Show c.681-53462_681-53461insTCTCACACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28283019	G G	GGAAAGAA others(11): Show GGAAAGAAAGTATTTATTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03453.hp1 NA19030.hp1 HG01346.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0003g0090 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0003g0090	3	158	0.0190	18	c.935 others(37): Show c.935-15316_935-15315insAGAAAGTATTTATTAGAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG02258.hp2 others(2): Show HG01099.hp2 HG01169.hp2 HG02258.hp2 HG02683.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0021 a0001c0002t0023	a0001c0001t0003g0178 a0001c0001t0006g0254 a0001c0001t0014g0177 others(2): Show a0001c0001t0003g0178 a0001c0001t0006g0254 a0001c0001t0014g0177 a0001c0001t0021g0027 a0001c0002t0023g0176	5	272	0.0184	18	c.312 others(35): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90011932	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0009 a0001c0004t0034g0009	1	194	0.0052	18	c.-12 others(35): Show c.-12-3094_-12-3077dupCACACACACACACACACA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092280	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	194	0.0052	18	c.-16 others(37): Show c.-161-3172_-161-3171insTTTTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)