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
CACNA2D3_chr3_54117552_55079557	54822828	TTTCTTTT others(9): Show TTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0018 a0001c0023t0001g0018	1	118	0.0085	-16	c.139 others(35): Show c.1398+5961_1398+5976delCTTTTCTTTCTTTCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54871043	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	118	0.0085	-16	c.162 others(33): Show c.1627-461_1627-446delACACACACACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	17/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54933043	CCATCCCT others(9): Show CCATCCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	118	0.0085	-16	c.244 others(37): Show c.2449+33177_2449+33192delATCCCTCCCTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54933051	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00639.hp2 others(25): Show HG00280.hp1 HG00423.hp1 HG00639.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01934.hp1 HG01934.hp2 HG02080.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02976.hp2 HG03239.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA19030.hp1 NA19068.hp1 NA19068.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0031 a0001c0033 a0002c0020	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0008 a0001c0010t0001 a0001c0010t0006 a0001c0011t0001 a0001c0015t0001 a0001c0018t0001 a0001c0019t0001 a0001c0027t0001 a0001c0028t0001 a0001c0031t0001 a0001c0033t0001 a0002c0020t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0033 others(25): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0002t0001g0004 a0001c0002t0001g0082 a0001c0002t0004g0001 a0001c0003t0001g0026 a0001c0003t0001g0094 a0001c0004t0001g0007 a0001c0004t0001g0022 a0001c0006t0001g0009 a0001c0007t0001g0044 a0001c0009t0008g0077 a0001c0010t0001g0065 a0001c0010t0006g0062 a0001c0011t0001g0099 a0001c0015t0001g0072 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0027t0001g0014 a0001c0028t0001g0090 a0001c0031t0001g0032 a0001c0033t0001g0114 a0002c0020t0001g0021	28	118	0.2373	-16	c.244 others(37): Show c.2449+33233_2449+33248delCTTCCTTCCTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54944396	GTATTTAT others(9): Show GTATTTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	118	0.0085	-16	c.245 others(37): Show c.2450-24028_2450-24013delATTTATTTATTTATTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54976056	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(12): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00438.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01258.hp2 HG02080.hp1 HG02300.hp1 HG03239.hp2 HG04115.hp2 NA18979.hp1 NA19068.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0019 a0001c0027 a0001c0029 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0027t0001 a0001c0029t0001 a0001c0040t0001	a0001c0001t0001g0010 a0001c0001t0001g0080 a0001c0002t0001g0115 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0080 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0003t0001g0101 a0001c0003t0001g0112 a0001c0004t0001g0031 a0001c0004t0002g0008 a0001c0008t0001g0074 a0001c0011t0001g0099 a0001c0011t0001g0109 a0001c0019t0001g0075 a0001c0027t0001g0014 a0001c0029t0001g0096 a0001c0040t0001g0117	15	118	0.1271	-16	c.255 others(35): Show c.2556+6234_2556+6249delCACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55022583	CTTCCTTT others(9): Show CTTCCTTTTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18522.hp1 NA21309.hp2 HG06807.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0030 a0001c0001 a0001c0003 a0001c0030	a0001c0001t0001 a0001c0003t0001 a0001c0030t0001 a0001c0001t0001 a0001c0003t0001 a0001c0030t0001	a0001c0001t0001g0016 a0001c0003t0001g0084 a0001c0030t0001g0028 a0001c0001t0001g0016 a0001c0003t0001g0084 a0001c0030t0001g0028	3	118	0.0254	-16	c.298 others(35): Show c.2987+4270_2987+4285delCTTTTTTCCTTCTTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55038864	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18979.hp2 NA21309.hp2 HG02109.hp1 NA18979.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0003t0001 a0001c0012t0011 a0001c0001t0001 a0001c0003t0001 a0001c0012t0011	a0001c0001t0001g0006 a0001c0003t0001g0084 a0001c0012t0011g0036 a0001c0001t0001g0006 a0001c0003t0001g0084 a0001c0012t0011g0036	3	118	0.0254	-16	c.298 others(37): Show c.2987+20576_2987+20591delTATATATATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1802015	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00741.hp2 others(11): Show HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG02896.hp1 HG02897.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0015 a0001c0031 a0002c0012	a0001c0001t0006 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0006 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0015t0003 a0001c0031t0001 a0002c0012t0001	a0001c0001t0006g0159 a0001c0001t0006g0163 a0001c0002t0001g0212 others(11): Show a0001c0001t0006g0159 a0001c0001t0006g0163 a0001c0002t0001g0212 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0007t0001g0035 a0001c0007t0001g0046 a0001c0007t0001g0271 a0001c0015t0003g0268 a0001c0031t0001g0267 a0002c0012t0001g0018 a0002c0012t0001g0019 a0002c0012t0001g0195	14	318	0.0440	-16	c.272 others(33): Show c.2722-387_2722-372delCACACACACACACACA	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	29/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1896606	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG02559.hp1 others(7): Show HG01358.hp1 HG01884.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0046 a0001c0047 others(2): Show a0001c0006 a0001c0046 a0001c0047 a0001c0048 a0001c0049	a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 others(5): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0001c0006t0019 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0006	a0001c0006t0001g0071 a0001c0006t0001g0219 a0001c0006t0001g0302 others(7): Show a0001c0006t0001g0071 a0001c0006t0001g0219 a0001c0006t0001g0302 a0001c0006t0002g0068 a0001c0006t0008g0072 a0001c0006t0019g0221 a0001c0046t0001g0220 a0001c0047t0001g0070 a0001c0048t0001g0069 a0001c0049t0006g0301	10	318	0.0315	-16	c.782 others(33): Show c.782-9553_782-9538delGTGTGTGTGTGTGTGT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	6/37			chr12	TogoVar
CACNB1_chr17_39168453_39202669	39172738	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0229 a0001c0004t0024g0229	1	396	0.0025	-16	c.24 others(27): Show c.2439_*2454delGTGTGTGTGTGTGTGT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding		714		chr17	TogoVar
CACNB2_chr10_18135424_18548557	18137084	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03486.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0005 a0001c0002t0002g0004 a0001c0001t0006g0005 a0001c0002t0002g0004	2	200	0.0100	-16	c.-36 others(27): Show c.-3652_-3637delTCCTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18152724	AAAAAAAA others(9): Show AAAAAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	200	0.0050	-16	c.213 others(33): Show c.213+1754_213+1769delAAAACAAAAAACAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18174393	TTTCTCTC others(9): Show TTTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	200	0.0050	-16	c.213 others(35): Show c.213+23423_213+23438delCTCTTTCTTTCCTTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18188254	TCTTTCCT others(9): Show TCTTTCCTTCTTGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01884.hp2 others(8): Show HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG03471.hp1 HG06807.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0036 a0001c0002t0015 a0002c0003t0013 a0002c0003t0053	a0001c0001t0001g0049 a0001c0001t0006g0017 a0001c0001t0006g0028 others(8): Show a0001c0001t0001g0049 a0001c0001t0006g0017 a0001c0001t0006g0028 a0001c0001t0008g0180 a0001c0001t0011g0125 a0001c0001t0036g0176 a0001c0002t0015g0018 a0001c0002t0015g0019 a0001c0002t0015g0020 a0002c0003t0013g0175 a0002c0003t0053g0027	11	200	0.0550	-16	c.213 others(35): Show c.213+37305_213+37320delTTGCCTCCTTTCCTTC	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18194376	GAGACTCA others(9): Show GAGACTCAAAGTTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02056.hp1 others(17): Show HG00642.hp1 HG01884.hp1 HG02056.hp1 HG02083.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03139.hp2 HG03453.hp2 NA18522.hp1 NA18984.hp1 NA18989.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0033 a0001c0001t0039 a0001c0001t0051 a0001c0002t0002 a0001c0002t0017 a0001c0002t0058 a0002c0003t0013 a0002c0003t0024	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0003g0064 others(17): Show a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0003g0064 a0001c0001t0003g0087 a0001c0001t0004g0161 a0001c0001t0007g0182 a0001c0001t0008g0007 a0001c0001t0016g0089 a0001c0001t0016g0181 a0001c0001t0033g0130 a0001c0001t0039g0062 a0001c0001t0051g0107 a0001c0002t0002g0061 a0001c0002t0002g0091 a0001c0002t0002g0113 a0001c0002t0002g0183 a0001c0002t0017g0148 a0001c0002t0058g0159 a0002c0003t0013g0175 a0002c0003t0024g0110	20	200	0.1000	-16	c.213 others(35): Show c.213+43407_213+43422delCAAAGTTGTAAAGACT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18220110	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02717.hp1 HG03195.hp1 others(1): Show HG00408.hp1 HG02717.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0002t0002g0106 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0002t0002g0106 a0001c0002t0002g0146	4	200	0.0200	-16	c.213 others(35): Show c.213+69165_213+69180delTATATATATATATATA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18358537	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	200	0.0050	-16	c.214 others(35): Show c.214-43371_214-43356delGCTCTCTCTCTCTCTC	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18398676	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	200	0.0050	-16	c.214 others(33): Show c.214-3232_214-3217delTACACACACACACACA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18438002	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA21309.hp2 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0002t0005 a0001c0001t0055 a0001c0002t0005	a0001c0001t0055g0170 a0001c0002t0005g0097 a0001c0001t0055g0170 a0001c0002t0005g0097	2	200	0.0100	-16	c.333 others(35): Show c.333+35977_333+35992delTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18472221	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp2 others(83): Show HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18973.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19070.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0037 a0001c0001t0050 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0002t0026 a0001c0002t0034 a0001c0002t0057 a0001c0005t0022 a0001c0006t0049 a0002c0003t0013 a0002c0003t0014 a0002c0003t0025 a0002c0003t0056	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0031 others(83): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0064 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0095 a0001c0001t0003g0108 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0199 a0001c0001t0004g0157 a0001c0001t0004g0167 a0001c0001t0006g0005 a0001c0001t0007g0039 a0001c0001t0007g0088 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0009g0052 a0001c0001t0009g0160 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0009g0177 a0001c0001t0011g0029 a0001c0001t0011g0125 a0001c0001t0012g0135 a0001c0001t0012g0198 a0001c0001t0016g0006 a0001c0001t0016g0089 a0001c0001t0016g0181 a0001c0001t0018g0011 a0001c0001t0019g0124 a0001c0001t0019g0126 a0001c0001t0021g0060 a0001c0001t0021g0077 a0001c0001t0037g0194 a0001c0001t0050g0040 a0001c0001t0055g0170 a0001c0002t0002g0041 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0112 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0005g0051 a0001c0002t0005g0097 a0001c0002t0005g0100 a0001c0002t0005g0121 a0001c0002t0005g0137 a0001c0002t0005g0200 a0001c0002t0017g0154 a0001c0002t0017g0164 a0001c0002t0026g0015 a0001c0002t0034g0068 a0001c0002t0057g0151 a0001c0005t0022g0090 a0001c0005t0022g0186 a0001c0006t0049g0076 a0002c0003t0013g0022 a0002c0003t0013g0109 a0002c0003t0014g0078 a0002c0003t0014g0111 a0002c0003t0025g0012 a0002c0003t0056g0053	86	200	0.4300	-16	c.334 others(35): Show c.334-26116_334-26101delTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495545	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	200	0.0050	-16	c.334 others(33): Show c.334-2778_334-2763delGTGTGTGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18522877	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02922.hp2 HG01891.hp1 HG02109.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0039 a0001c0001t0007g0188 a0001c0001t0007g0189	3	200	0.0150	-16	c.944 others(33): Show c.944+3930_944+3945delAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18532686	AAAAAAAA others(9): Show AAAAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03195.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG03195.hp2 NA19030.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0001t0040 a0001c0001t0054	a0001c0001t0001g0132 a0001c0001t0006g0005 a0001c0001t0035g0086 others(2): Show a0001c0001t0001g0132 a0001c0001t0006g0005 a0001c0001t0035g0086 a0001c0001t0040g0021 a0001c0001t0054g0162	5	200	0.0250	-16	c.105 others(35): Show c.1055-1382_1055-1367delAAACAAAACAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536259	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18985.hp1 HG02056.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0098 a0001c0001t0004g0157 a0001c0001t0001g0098 a0001c0001t0004g0157	2	200	0.0100	-16	c.130 others(31): Show c.1302+64_1302+79delTTTTTTTTTTTTTTGG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358537	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	302	0.0033	-16	c.51+ others(33): Show c.51+17576_51+17591delGCTCTCTCTCTCTCTC	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18398676	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	302	0.0033	-16	c.52- others(31): Show c.52-3232_52-3217delTACACACACACACACA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18438002	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA21309.hp2 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0004 a0001c0001t0026 a0001c0002t0004	a0001c0001t0026g0296 a0001c0002t0004g0137 a0001c0001t0026g0296 a0001c0002t0004g0137	2	302	0.0066	-16	c.171 others(35): Show c.171+35977_171+35992delTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18472221	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(124): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19058.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0044 a0001c0001t0065 a0001c0001t0069 a0001c0002t0002 a0001c0002t0004 a0001c0002t0042 a0001c0004t0027 a0001c0005t0021 a0001c0008t0068 a0002c0003t0009 a0002c0003t0013 a0002c0003t0018 a0002c0003t0035 a0002c0003t0036 a0004c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0003g0001 a0001c0001t0003g0023 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0127 a0001c0001t0003g0167 a0001c0001t0003g0181 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0244 a0001c0001t0003g0253 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0294 a0001c0001t0003g0298 a0001c0001t0005g0188 a0001c0001t0007g0153 a0001c0001t0007g0161 a0001c0001t0010g0026 a0001c0001t0010g0028 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0012g0057 a0001c0001t0012g0182 a0001c0001t0015g0019 a0001c0001t0015g0020 a0001c0001t0015g0111 a0001c0001t0016g0224 a0001c0001t0016g0238 a0001c0001t0016g0273 a0001c0001t0019g0100 a0001c0001t0020g0004 a0001c0001t0020g0102 a0001c0001t0026g0296 a0001c0001t0030g0071 a0001c0001t0034g0017 a0001c0001t0044g0018 a0001c0001t0065g0172 a0001c0001t0069g0242 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0145 a0001c0002t0002g0148 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0004g0044 a0001c0002t0004g0048 a0001c0002t0004g0070 a0001c0002t0004g0083 a0001c0002t0004g0107 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0119 a0001c0002t0004g0137 a0001c0002t0004g0141 a0001c0002t0004g0144 a0001c0002t0004g0147 a0001c0002t0004g0175 a0001c0002t0004g0194 a0001c0002t0004g0227 a0001c0002t0004g0286 a0001c0002t0042g0212 a0001c0004t0027g0043 a0001c0005t0021g0207 a0001c0005t0021g0276 a0001c0008t0068g0066 a0002c0003t0009g0013 a0002c0003t0009g0233 a0002c0003t0009g0254 a0002c0003t0009g0258 a0002c0003t0013g0162 a0002c0003t0013g0189 a0002c0003t0018g0266 a0002c0003t0035g0275 a0002c0003t0036g0278 a0004c0006t0002g0170	127	302	0.4205	-16	c.172 others(35): Show c.172-26116_172-26101delTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495545	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0293 a0001c0002t0002g0293	1	302	0.0033	-16	c.172 others(33): Show c.172-2778_172-2763delGTGTGTGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18522877	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02922.hp1 HG01891.hp2 HG02109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0010g0026 a0001c0001t0010g0287 a0001c0001t0010g0289	3	302	0.0099	-16	c.782 others(33): Show c.782+3930_782+3945delAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18532686	AAAAAAAA others(9): Show AAAAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03195.hp1 others(2): Show HG02055.hp1 HG02145.hp1 HG03195.hp1 NA19030.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0031	a0001c0001t0001g0192 a0001c0001t0005g0188 a0001c0001t0005g0249 others(2): Show a0001c0001t0001g0192 a0001c0001t0005g0188 a0001c0001t0005g0249 a0001c0001t0025g0241 a0001c0001t0031g0232	5	302	0.0166	-16	c.893 others(33): Show c.893-1382_893-1367delAAACAAAACAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536259	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18985.hp2 HG02056.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0010 a0001c0001t0001g0075	2	302	0.0066	-16	c.114 others(31): Show c.1140+64_1140+79delTTTTTTTTTTTTTTGG	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12			chr10	TogoVar
CACNB4_chr2_151827771_152104044	151921138	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0227 a0001c0001t0024g0227	1	230	0.0044	-16	c.148 others(35): Show c.148-37784_148-37769delATTTATTTATTTATTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151944002	TCGGATAC others(9): Show TCGGATACAGGATTATA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	230	0.0044	-16	c.148 others(35): Show c.148-60648_148-60633delTATAATCCTGTATCCG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152001526	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp1 HG00639.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0043 a0001c0001t0004 a0001c0001t0043	a0001c0001t0004g0078 a0001c0001t0043g0079 a0001c0001t0004g0078 a0001c0001t0043g0079	2	230	0.0087	-16	c.147 others(35): Show c.147+96788_147+96803delTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035572	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18977.hp1 NA18974.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	230	0.0087	-16	c.147 others(35): Show c.147+62742_147+62757delGGAGAGAGAGAGAGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152052084	CATTGAAA others(9): Show CATTGAAAATACCATAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02145.hp1 others(21): Show HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002 a0001c0005t0019	a0001c0001t0002g0140 a0001c0001t0004g0223 a0001c0001t0005g0092 others(21): Show a0001c0001t0002g0140 a0001c0001t0004g0223 a0001c0001t0005g0092 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0229 a0001c0001t0006g0216 a0001c0001t0011g0030 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0015g0047 a0001c0001t0018g0220 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0147 a0001c0002t0002g0200 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0005t0019g0199	24	230	0.1044	-16	c.147 others(35): Show c.147+46230_147+46245delTTATGGTATTTTCAAT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG1_chr17_67039554_67061797	67054990	ATGACACA others(9): Show ATGACACACACAGACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp2 HG01884.hp1 others(6): Show HG01109.hp2 HG01361.hp2 HG01884.hp1 HG02451.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0133	9	428	0.0210	-16	c.305 others(30): Show c.305-101_305-86delGACACTGACACACACA	CACNG1	ENSG00000108878.5	transcript	ENST00000226021.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG2_chr22_36555857_36708752	36643474	GTCTATCT others(9): Show GTCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0073 a0001c0001t0035g0073	1	214	0.0047	-16	c.212 others(35): Show c.212-55942_212-55927delTAGATAGATAGATAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679136	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18986.hp1 NA19091.hp2 HG03017.hp2 NA18986.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0021 a0001c0001t0004g0032 a0001c0001t0016g0093 a0001c0001t0004g0021 a0001c0001t0004g0032 a0001c0001t0016g0093	3	214	0.0140	-16	c.211 others(35): Show c.211+23214_211+23229delAAGGAAGGAAGGAAGG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679185	CCTTCCTT others(9): Show CCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01071.hp2 others(29): Show HG00438.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA18946.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA19002.hp2 NA19064.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0027 a0001c0001t0032 a0001c0001t0039 a0001c0001t0054 a0001c0001t0056 a0001c0001t0064 a0001c0001t0068 a0001c0001t0089 a0001c0001t0092 a0001c0001t0095 a0001c0001t0101 a0001c0001t0110	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0046 others(29): Show a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0003g0145 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0006g0175 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0015g0007 a0001c0001t0017g0077 a0001c0001t0019g0014 a0001c0001t0024g0157 a0001c0001t0027g0061 a0001c0001t0032g0040 a0001c0001t0039g0022 a0001c0001t0054g0103 a0001c0001t0056g0105 a0001c0001t0064g0128 a0001c0001t0068g0135 a0001c0001t0089g0191 a0001c0001t0092g0190 a0001c0001t0095g0192 a0001c0001t0101g0202 a0001c0001t0110g0210	32	214	0.1495	-16	c.211 others(35): Show c.211+23165_211+23180delAAAGGAAGGAAGGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703785	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	214	0.0047	-16	c.-12 others(27): Show c.-1225_-1210delAAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		34		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24257368	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp1 HG01891.hp1 others(22): Show HG00423.hp1 HG01358.hp1 HG01891.hp1 HG02015.hp2 HG02080.hp1 HG02083.hp1 HG02280.hp1 HG02717.hp1 HG02738.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 NA18747.hp1 NA18946.hp1 NA18948.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18981.hp1 NA19030.hp2 NA19056.hp2 NA19074.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(22): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0002g0251 a0001c0002t0001g0361 a0001c0003t0001g0237	25	366	0.0683	-16	c.211 others(31): Show c.211+448_211+463delGAGAGAGAGAGAGAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24305320	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00738.hp2 others(27): Show HG00280.hp2 HG00733.hp2 HG00738.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG03486.hp1 HG03669.hp1 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA19005.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0161 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0268 a0001c0001t0001g0285 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0340 a0001c0001t0001g0355 a0001c0001t0001g0365 a0001c0001t0002g0002 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0298 a0001c0001t0004g0334 a0001c0002t0001g0009 a0001c0002t0001g0105 a0001c0002t0001g0190 a0001c0003t0001g0237	30	366	0.0820	-16	c.212 others(35): Show c.212-41382_212-41367delGTGTGTGTGTGTGTGT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317554	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02572.hp2 HG02622.hp1 HG00544.hp1 HG02572.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0093 a0001c0001t0001g0356 a0001c0001t0001g0055 a0001c0001t0001g0093 a0001c0001t0001g0356	3	366	0.0082	-16	c.212 others(35): Show c.212-29122_212-29107delAAGAAAGAAAGAAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG4_chr17_66959707_67038398	66990665	ATTTTATT others(9): Show ATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02486.hp2 others(7): Show HG00735.hp1 HG02109.hp1 HG02486.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038	a0001c0001t0001g0187 a0001c0001t0002g0166 a0001c0001t0002g0167 others(7): Show a0001c0001t0001g0187 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0186 a0001c0001t0011g0190 a0001c0001t0034g0189 a0001c0001t0035g0188 a0001c0001t0038g0169	10	352	0.0284	-16	c.220 others(35): Show c.220+25538_220+25553delTATTTTATTTTATTTT	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG6_chr19_53986637_54017666	54004335	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG02922.hp1 others(3): Show HG01109.hp1 HG01109.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0014 a0001c0001 a0001c0002 a0007c0014	a0001c0001t0003 a0001c0001t0012 a0001c0001t0036 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0036 a0001c0002t0019 a0007c0014t0002	a0001c0001t0003g0083 a0001c0001t0012g0082 a0001c0001t0036g0404 others(3): Show a0001c0001t0003g0083 a0001c0001t0012g0082 a0001c0001t0036g0404 a0001c0002t0019g0283 a0001c0002t0019g0284 a0007c0014t0002g0370	6	430	0.0140	-16	c.544 others(33): Show c.544+4606_544+4621delGTGTGTGTGTGTGTGT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54015333	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01071.hp1 others(30): Show HG00438.hp1 HG00639.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01346.hp1 HG01978.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02630.hp1 HG02738.hp1 HG02965.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG04204.hp2 NA18952.hp1 NA18963.hp1 NA18975.hp1 NA18986.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19085.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0008 a0001c0001 a0001c0003 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 a0001c0003t0007 a0005c0008t0002	a0001c0001t0002g0015 a0001c0001t0002g0143 a0001c0001t0002g0340 others(28): Show a0001c0001t0002g0015 a0001c0001t0002g0143 a0001c0001t0002g0340 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0184 a0001c0001t0004g0005 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0137 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0253 a0001c0001t0006g0034 a0001c0001t0006g0039 a0001c0001t0006g0049 a0001c0001t0006g0053 a0001c0001t0006g0132 a0001c0001t0006g0250 a0001c0001t0007g0244 a0001c0001t0007g0247 a0001c0001t0015g0071 a0001c0001t0021g0104 a0001c0003t0007g0161 a0001c0003t0007g0163 a0005c0008t0002g0270	33	430	0.0767	-16	c.31 others(27): Show c.3145_*3160delCCTTCCTTCCTTCCTT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		2668		chr19	TogoVar
CACTIN_chr19_3605645_3631790	3614208	GGGACTAC others(9): Show GGGACTACGCGCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(9): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02486.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03471.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0008 a0002c0001t0001g0064 a0002c0001t0001g0139 others(4): Show a0002c0001t0001g0008 a0002c0001t0001g0064 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0190	12	408	0.0294	-16	c.135 others(33): Show c.1355+173_1355+188delGGGGGGCGCGTAGTCC	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding	7/9			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)