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
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03453.hp2 NA18948.hp2 others(2): Show HG02976.hp1 HG03453.hp2 NA18948.hp2 NA19000.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0040	5	410	0.0122	18	c.41 others(29): Show c.4170_*4171insAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69598054	A A	ACGCCCCC others(11): Show ACGCCCCCGCCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02258.hp1 HG01934.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0008 a0001c0001t0004 a0001c0003t0008	a0001c0001t0004g0042 a0001c0003t0008g0039 a0001c0001t0004g0042 a0001c0003t0008g0039	2	76	0.0263	18	c.-16 others(29): Show c.-1600_-1599insCGCCCCCGCCCCCGCCCC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding		420		chr7	TogoVar
AUTS2_chr7_69593475_70798506	69714249	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0002 a0001c0001t0016g0002	1	76	0.0132	18	c.309 others(39): Show c.309+114311_309+114328dupGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870447	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	76	0.0132	18	c.310 others(37): Show c.310-28839_310-28838insTATATATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 NA20752.hp1 others(1): Show HG03225.hp2 HG03540.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0008t0017	a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0019g0075 others(1): Show a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0019g0075 a0001c0008t0017g0046	4	76	0.0526	18	c.310 others(37): Show c.310-28837_310-28820dupATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69888540	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0033 a0002c0010t0033	a0002c0010t0033g0014 a0002c0010t0033g0014	1	76	0.0132	18	c.310 others(37): Show c.310-10731_310-10714dupATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70092083	T T	TTTTTAAT others(11): Show TTTTTAATACTTAGGAGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	76	0.0132	18	c.523 others(37): Show c.523-26038_523-26021dupTAGGAGTATTTTAATACT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02257.hp2 NA19030.hp2 HG00280.hp1 HG02257.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0006 a0001c0004t0013 a0001c0001t0003 a0001c0001t0006 a0001c0004t0013	a0001c0001t0003g0068 a0001c0001t0006g0010 a0001c0004t0013g0025 a0001c0001t0003g0068 a0001c0001t0006g0010 a0001c0004t0013g0025	3	76	0.0395	18	c.660 others(37): Show c.660+50696_660+50713dupTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19240.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0004t0012 a0001c0001t0019 a0001c0004t0012	a0001c0001t0019g0075 a0001c0004t0012g0024 a0001c0001t0019g0075 a0001c0004t0012g0024	2	76	0.0263	18	c.660 others(39): Show c.660+110599_660+110600insTATATATATATATATAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	76	0.0132	18	c.661 others(39): Show c.661-132317_661-132316insGCACACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0006g0038 a0001c0001t0014g0070	2	76	0.0263	18	c.661 others(37): Show c.661-95574_661-95557dupACACACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	18	c.690 others(35): Show c.690+8593_690+8594insTGTGTGTGTGTGAGAGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0029 a0001c0001t0020g0029	1	76	0.0132	18	c.690 others(35): Show c.690+8593_690+8594insTGTGTGTGTGTGTGAGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019	a0001c0001t0004g0051 a0001c0001t0005g0020 a0001c0001t0019g0075 a0001c0001t0004g0051 a0001c0001t0005g0020 a0001c0001t0019g0075	3	76	0.0395	18	c.691 others(39): Show c.691-119324_691-119307dupAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70721279	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	76	0.0132	18	c.742 others(37): Show c.742+22676_742+22693dupGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02602.hp1 HG01069.hp2 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0001 a0003c0003t0003g0013	2	266	0.0075	18	c.517 others(33): Show c.517-745_517-744insTTTTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02970.hp1 others(2): Show HG02280.hp1 HG02922.hp2 HG02970.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0004g0148 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0004g0148 a0001c0001t0004g0183 a0001c0001t0004g0192	5	266	0.0188	18	c.446 others(37): Show c.446-57514_446-57497dupTGTGTGTGTGTGTGTGTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	266	0.0038	18	c.446 others(37): Show c.446-57530_446-57529insCTGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(11): Show CACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp2 HG03831.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0261 a0001c0001t0001g0177 a0001c0001t0001g0261	2	266	0.0075	18	c.446 others(37): Show c.446-57530_446-57529insCTCTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(11): Show CACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04115.hp2 HG03927.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0173 a0001c0001t0001g0175	2	266	0.0075	18	c.446 others(37): Show c.446-57530_446-57529insCTCTCTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33983140	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02717.hp1 HG01070.hp2 HG01071.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187	3	266	0.0113	18	c.445 others(37): Show c.445+19891_445+19892insTACACACACACACACACA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	372	0.0027	18	c.-20 others(33): Show c.-20+429_-20+446dupAAAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503365	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0295 a0001c0001t0014g0295	1	330	0.0030	18	c.93+ others(33): Show c.93+7564_93+7565insCACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02004.hp1 HG02273.hp1 others(8): Show HG01074.hp1 HG02004.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02630.hp2 NA18945.hp2 NA18966.hp2 NA18983.hp2 NA19077.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0001t0014 a0001c0001t0034 others(5): Show a0001c0001t0010 a0001c0001t0014 a0001c0001t0034 a0001c0001t0045 a0001c0001t0047 a0001c0001t0100 a0001c0001t0112 a0001c0004t0021	a0001c0001t0010g0250 a0001c0001t0010g0265 a0001c0001t0010g0276 others(8): Show a0001c0001t0010g0250 a0001c0001t0010g0265 a0001c0001t0010g0276 a0001c0001t0014g0249 a0001c0001t0014g0264 a0001c0001t0034g0292 a0001c0001t0045g0272 a0001c0001t0047g0277 a0001c0001t0100g0303 a0001c0001t0112g0278 a0001c0004t0021g0325	11	330	0.0333	18	c.93+ others(33): Show c.93+7566_93+7567insCACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTCTTT others(11): Show CTCTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0312 a0001c0009t0037g0312	1	330	0.0030	18	c.301 others(33): Show c.301-702_301-701insCTCTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0118 a0001c0008t0118	a0001c0008t0118g0053 a0001c0008t0118g0053	1	330	0.0030	18	c.301 others(33): Show c.301-702_301-701insCTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32566180	A A	ATCTTTTT others(11): Show ATCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(86): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA19003.hp1 NA19060.hp1 NA19060.hp2 NA19082.hp2 NA19085.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0003 a0003c0005 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(56): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0028 a0001c0001t0035 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0093 a0001c0001t0097 a0001c0001t0099 a0001c0001t0101 a0001c0001t0104 a0001c0001t0106 a0001c0001t0112 a0001c0001t0122 a0001c0001t0130 a0001c0001t0134 a0001c0001t0135 a0001c0001t0138 a0001c0001t0139 a0001c0004t0021 a0001c0004t0031 a0001c0004t0040 a0001c0004t0085 a0001c0004t0091 a0001c0004t0092 a0001c0004t0109 a0001c0006t0004 a0001c0006t0007 a0001c0006t0051 a0001c0008t0119 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0020 a0002c0003t0030 a0002c0003t0032 a0002c0003t0041 a0002c0003t0082 a0002c0003t0083 a0002c0003t0084 a0002c0003t0086 a0002c0003t0089 a0002c0003t0090 a0002c0003t0115 a0002c0003t0123 a0003c0005t0064 a0004c0010t0017	a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0200 others(86): Show a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0003g0217 a0001c0001t0003g0231 a0001c0001t0004g0025 a0001c0001t0004g0038 a0001c0001t0007g0031 a0001c0001t0014g0259 a0001c0001t0017g0008 a0001c0001t0022g0112 a0001c0001t0028g0242 a0001c0001t0035g0004 a0001c0001t0044g0240 a0001c0001t0044g0270 a0001c0001t0049g0205 a0001c0001t0050g0046 a0001c0001t0053g0229 a0001c0001t0054g0190 a0001c0001t0054g0211 a0001c0001t0057g0222 a0001c0001t0059g0213 a0001c0001t0059g0223 a0001c0001t0060g0019 a0001c0001t0061g0027 a0001c0001t0093g0234 a0001c0001t0097g0271 a0001c0001t0099g0256 a0001c0001t0101g0309 a0001c0001t0104g0251 a0001c0001t0106g0291 a0001c0001t0112g0278 a0001c0001t0122g0196 a0001c0001t0130g0049 a0001c0001t0134g0039 a0001c0001t0135g0297 a0001c0001t0138g0296 a0001c0001t0139g0003 a0001c0004t0021g0157 a0001c0004t0021g0160 a0001c0004t0021g0162 a0001c0004t0031g0153 a0001c0004t0031g0167 a0001c0004t0040g0159 a0001c0004t0085g0158 a0001c0004t0091g0114 a0001c0004t0092g0119 a0001c0004t0109g0161 a0001c0006t0004g0040 a0001c0006t0007g0042 a0001c0006t0051g0051 a0001c0008t0119g0311 a0002c0003t0002g0121 a0002c0003t0002g0126 a0002c0003t0002g0129 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0144 a0002c0003t0002g0152 a0002c0003t0002g0173 a0002c0003t0008g0002 a0002c0003t0008g0115 a0002c0003t0008g0123 a0002c0003t0008g0128 a0002c0003t0008g0328 a0002c0003t0012g0146 a0002c0003t0012g0148 a0002c0003t0012g0149 a0002c0003t0012g0150 a0002c0003t0020g0113 a0002c0003t0020g0130 a0002c0003t0020g0169 a0002c0003t0030g0151 a0002c0003t0032g0135 a0002c0003t0041g0139 a0002c0003t0041g0147 a0002c0003t0082g0002 a0002c0003t0083g0137 a0002c0003t0084g0127 a0002c0003t0086g0174 a0002c0003t0089g0124 a0002c0003t0090g0122 a0002c0003t0115g0140 a0002c0003t0123g0191 a0003c0005t0064g0323 a0004c0010t0017g0208	89	330	0.2697	18	c.121 others(37): Show c.1216-3839_1216-3838insCTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp1 HG03579.hp2 others(1): Show HG01175.hp2 HG03239.hp1 HG03579.hp2 NA18950.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0002c0002t0002 a0004c0005t0001 a0001c0001t0002 a0002c0002t0002 a0004c0005t0001	a0001c0001t0002g0021 a0002c0002t0002g0096 a0004c0005t0001g0249 a0001c0001t0002g0021 a0002c0002t0002g0096 a0004c0005t0001g0249	4	446	0.0090	18	c.287 others(33): Show c.287+721_287+738dupACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG02976.hp1 others(3): Show HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0166 a0001c0002t0001g0206 a0001c0002t0001g0237 others(3): Show a0001c0002t0001g0166 a0001c0002t0001g0206 a0001c0002t0001g0237 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0007t0001g0200	6	356	0.0169	18	c.209 others(37): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(11): Show AAAAAAAAAACAAAAAACT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18967.hp2 NA18965.hp2 NA18967.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0344 a0002c0001t0001g0347 a0002c0001t0001g0344 a0002c0001t0001g0347	2	356	0.0056	18	c.209 others(37): Show c.2091+2920_2091+2921insAAAAAAACAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488639	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG06807.hp2 NA18975.hp1 HG02135.hp1 HG06807.hp2 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0022 a0001c0003 a0002c0022	a0001c0003t0001 a0002c0022t0001 a0001c0003t0001 a0002c0022t0001	a0001c0003t0001g0277 a0001c0003t0001g0281 a0002c0022t0001g0283 a0001c0003t0001g0277 a0001c0003t0001g0281 a0002c0022t0001g0283	3	356	0.0084	18	c.209 others(37): Show c.2092-2897_2092-2880dupTTCTTTCTTTCTTTCTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488641	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0217	1	356	0.0028	18	c.209 others(37): Show c.2092-2895_2092-2878dupCTTTCTTTCTTTCTTTCT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	282903	T T	TCCCCTGC others(11): Show TCCCCTGCTGCCCCTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0125 a0001c0002t0015g0125	1	378	0.0027	18	c.52 others(29): Show c.5201_*5218dupCAGCAGGGGCAGCAGGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		4536		chr16	TogoVar
AXIN1_chr16_282440_357723	323776	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0002 a0001c0011t0019g0002	2	378	0.0053	18	c.879 others(35): Show c.879-9111_879-9094dupTGTGTGTGTGTGTGTGTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0125 a0002c0012t0001g0125	1	402	0.0025	18	c.106 others(35): Show c.1060-342_1060-325dupTTTTTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXIN2_chr17_65523563_65566648	65560406	T T	TGGGGCGG others(11): Show TGGGGCGGAGGAGAGGCGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0167 a0002c0007t0001g0167	1	402	0.0025	18	c.-11 others(37): Show c.-117+1026_-117+1043dupCCGCCTCTCCTCCGCCCC	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	1/10			chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0044 a0001c0013t0044	a0001c0013t0044g0063 a0001c0013t0044g0063	1	314	0.0032	18	c.40 others(27): Show c.408_*425dupTTTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN1_chr8_102821308_102869163	102822170	T T	TCACACAC others(11): Show TCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	380	0.0026	18	c.63 others(29): Show c.6396_*6397insTGTGTGTGTGTGTGTGTG	AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding		4137		chr8	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAAGAAGA others(11): Show TAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	391	0.0026	18	c.14 others(29): Show c.1401_*1402insAAGAAGAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1261		chr19	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAATAAGA others(11): Show TAATAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	391	0.0026	18	c.14 others(29): Show c.1401_*1402insAATAAGAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1261		chr19	TogoVar
AZU1_chr19_822837_837018	836288	C C	CAGAGAGA others(11): Show CAGAGAGAGACAAAGACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(266): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005 a0003c0006 a0004c0011 a0005c0013 a0006c0017 a0007c0014 a0009c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0002c0005t0001 a0003c0006t0001 a0004c0011t0001 a0005c0013t0001 a0006c0017t0001 a0007c0014t0001 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0003g0005 a0001c0001t0004g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0002g0008 a0001c0003t0001g0002 a0001c0003t0001g0015 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0024 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0073 a0001c0003t0001g0079 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0014 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0027 a0001c0004t0001g0033 a0001c0004t0001g0046 a0001c0004t0001g0052 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0009t0001g0008 a0002c0005t0001g0013 a0002c0005t0001g0020 a0002c0005t0001g0057 a0002c0005t0001g0058 a0003c0006t0001g0023 a0004c0011t0001g0001 a0005c0013t0001g0018 a0006c0017t0001g0002 a0007c0014t0001g0075 a0009c0012t0001g0002	269	391	0.6880	18	c.44 others(29): Show c.4411_*4412insAGAGAGAGACAAAGACAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4271		chr19	TogoVar
AZU1_chr19_822837_837018	836296	G G	GACAAAGA others(11): Show GACAAAGACAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02300.hp2 HG03834.hp2 others(1): Show HG00673.hp2 HG02300.hp2 HG03834.hp2 NA20805.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0013 a0002c0005t0001g0020 a0002c0005t0001g0013 a0002c0005t0001g0020	4	391	0.0102	18	c.44 others(29): Show c.4419_*4420insACAAAGACAGAGAGAGAA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4279		chr19	TogoVar
B2M_chr15_44706517_44723145	44721693	A A	ACACCACC others(11): Show ACACCACCACCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA20905.hp1 HG04228.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	385	0.0052	18	c.41 others(29): Show c.4101_*4102insCACCACCACCACCACCAC	B2M	ENSG00000166710.23	transcript	ENST00000648006.3	protein_coding		3549		chr15	TogoVar
B3GALT1_chr2_167288001_167879045	167303682	C C	CACACACA others(11): Show CACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0054 a0001c0001t0049g0054	1	118	0.0085	18	c.-51 others(39): Show c.-511+10349_-511+10350insCACACACACACAGAGAGA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167612367	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	118	0.0085	18	c.-40 others(39): Show c.-409-34530_-409-34513dupATTATTATTATTATTATT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876053	G G	GTATATAT others(11): Show GTATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	118	0.0085	18	c.60 others(29): Show c.6033_*6034insTATATATATATATACGTA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2009		chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639391	C C	CTTCCTTC others(11): Show CTTCCTTCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19066.hp2 NA18963.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0081 a0001c0001t0009 a0002c0002t0081	a0001c0001t0009g0157 a0002c0002t0081g0185 a0001c0001t0009g0157 a0002c0002t0081g0185	2	336	0.0060	18	c.-39 others(37): Show c.-391-6998_-391-6997insCTTCCTTCTTTCTTTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134403983	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	352	0.0028	18	c.-28 others(37): Show c.-282+7806_-282+7823dupTATATATATATATATATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134404027	A A	ATATATAT others(11): Show ATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0251 a0001c0003t0004g0251	1	352	0.0028	18	c.-28 others(37): Show c.-282+7779_-282+7780insAATAAATAAATATATATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT2_chr6_70851679_70962060	70855050	T T	TCATATAC others(11): Show TCATATACATATACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01074.hp2 others(36): Show HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01192.hp1 HG01256.hp1 HG01433.hp2 HG02040.hp2 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03669.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18949.hp1 NA18960.hp2 NA18980.hp1 NA18990.hp2 NA18999.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19062.hp1 NA19065.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0001c0001t0047 a0001c0001t0067 a0001c0001t0073 a0001c0001t0074 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0016 a0001c0002t0026 a0001c0002t0029 a0001c0002t0040 a0001c0002t0041 a0001c0002t0077 a0001c0002t0084 a0001c0002t0099 a0001c0002t0100 a0001c0002t0101	a0001c0001t0001g0057 a0001c0001t0001g0117 a0001c0001t0002g0001 others(36): Show a0001c0001t0001g0057 a0001c0001t0001g0117 a0001c0001t0002g0001 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0004g0074 a0001c0001t0004g0108 a0001c0001t0004g0161 a0001c0001t0012g0009 a0001c0001t0012g0030 a0001c0001t0013g0096 a0001c0001t0020g0066 a0001c0001t0032g0021 a0001c0001t0033g0075 a0001c0001t0033g0114 a0001c0001t0047g0028 a0001c0001t0067g0113 a0001c0001t0073g0107 a0001c0001t0074g0087 a0001c0002t0005g0232 a0001c0002t0005g0233 a0001c0002t0006g0193 a0001c0002t0007g0204 a0001c0002t0007g0225 a0001c0002t0007g0251 a0001c0002t0016g0206 a0001c0002t0026g0181 a0001c0002t0029g0280 a0001c0002t0029g0300 a0001c0002t0040g0186 a0001c0002t0041g0190 a0001c0002t0077g0179 a0001c0002t0084g0244 a0001c0002t0099g0292 a0001c0002t0100g0258 a0001c0002t0101g0257	39	316	0.1234	18	c.65 others(29): Show c.6595_*6612dupTATATGTATATGTATATG	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding		1628		chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)