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
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	310	0.0032	26	c.50- others(41): Show c.50-8672_50-8671insATATATATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(19): Show CACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	310	0.0032	26	c.50- others(41): Show c.50-8674_50-8673insATATATATATATATATATATATGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACATATA others(19): Show CACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG03927.hp2 HG01496.hp2 HG02922.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0002g0054 a0001c0001t0004g0076 a0001c0001t0001g0087 a0001c0001t0002g0054 a0001c0001t0004g0076	3	310	0.0097	26	c.50- others(41): Show c.50-8674_50-8673insATATATATATATATATATATATATGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG03017.hp2 others(1): Show HG01123.hp2 HG01361.hp2 HG03017.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0065 a0001c0001t0005g0265 a0001c0001t0011g0007 others(1): Show a0001c0001t0001g0065 a0001c0001t0005g0265 a0001c0001t0011g0007 a0001c0001t0028g0056	4	310	0.0129	26	c.50- others(41): Show c.50-8699_50-8674dupATATATATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACACACAC others(19): Show ACACACACACACGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02615.hp1 HG02976.hp2 others(1): Show HG01255.hp2 HG02615.hp1 HG02976.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0004 a0001c0002t0016	a0001c0001t0002g0014 a0001c0001t0006g0300 a0001c0002t0004g0033 others(1): Show a0001c0001t0002g0014 a0001c0001t0006g0300 a0001c0002t0004g0033 a0001c0002t0016g0032	4	310	0.0129	26	c.50- others(41): Show c.50-9048_50-9047insCGCGCGCGCACGCGCGTGTGTGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(19): Show CCTCCCTCCCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA21309.hp1 HG02055.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0062 a0001c0003t0052 a0001c0003t0062	a0001c0003t0052g0113 a0001c0003t0062g0024 a0001c0003t0052g0113 a0001c0003t0062g0024	2	122	0.0164	26	c.77- others(41): Show c.77-3226_77-3225insCCTCCCTCTCTCTCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(19): Show CCTCCCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0018 a0001c0005t0044g0018	1	122	0.0082	26	c.77- others(41): Show c.77-3226_77-3225insCCTCTCTCTCTCTCTCTCTCTTTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	122	0.0082	26	c.222 others(45): Show c.222-23037_222-23036insATATATATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25609534	G G	GGGATTCA others(19): Show GGGATTCAAATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02976.hp2 HG01496.hp1 HG02280.hp1 HG02976.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0018 a0001c0009 a0001c0011 a0001c0018	a0001c0009t0037 a0001c0011t0017 a0001c0018t0024 a0001c0009t0037 a0001c0011t0017 a0001c0018t0024	a0001c0009t0037g0008 a0001c0011t0017g0121 a0001c0018t0024g0066 a0001c0009t0037g0008 a0001c0011t0017g0121 a0001c0018t0024g0066	3	122	0.0246	26	c.221 others(47): Show c.2211+19858_2211+19883dupATTTGGATTCAAATATATATATAT AT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0081	1	122	0.0082	26	c.318 others(47): Show c.3183+26841_3183+26866dupTATATATATATATATATATATATA TA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02257.hp2 HG03130.hp2 others(5): Show HG01074.hp2 HG02257.hp2 HG03130.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0026 a0001c0001t0053 a0001c0001t0072 others(5): Show a0001c0001t0026 a0001c0001t0053 a0001c0001t0072 a0001c0002t0001 a0001c0006t0043 a0001c0007t0001 a0001c0008t0033 a0001c0008t0057	a0001c0001t0026g0090 a0001c0001t0053g0114 a0001c0001t0072g0027 others(5): Show a0001c0001t0026g0090 a0001c0001t0053g0114 a0001c0001t0072g0027 a0001c0002t0001g0069 a0001c0006t0043g0095 a0001c0007t0001g0081 a0001c0008t0033g0075 a0001c0008t0057g0070	8	122	0.0656	26	c.318 others(47): Show c.3183+30071_3183+30096dupTCTCTCTCTCTCTCTCTCTCTCTC TC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(19): Show CTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01081.hp1 others(9): Show HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01358.hp2 HG02273.hp2 HG02976.hp2 HG03098.hp2 HG03490.hp2 HG03654.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0018	a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 others(9): Show a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0002t0031 a0001c0003t0018 a0001c0004t0002 a0001c0004t0005 a0001c0010t0012 a0001c0018t0024	a0001c0001t0002g0079 a0001c0001t0011g0062 a0001c0002t0001g0035 others(9): Show a0001c0001t0002g0079 a0001c0001t0011g0062 a0001c0002t0001g0035 a0001c0002t0009g0042 a0001c0002t0020g0097 a0001c0002t0021g0017 a0001c0002t0031g0058 a0001c0003t0018g0057 a0001c0004t0002g0049 a0001c0004t0005g0089 a0001c0010t0012g0091 a0001c0018t0024g0066	12	122	0.0984	26	c.318 others(47): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTTTTTTTTTT TT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02723.hp2 HG02886.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0034 a0001c0001t0002 a0004c0004t0034	a0001c0001t0002g0295 a0004c0004t0034g0088 a0001c0001t0002g0295 a0004c0004t0034g0088	2	314	0.0064	26	c.353 others(43): Show c.3532-171_3532-170insTACACACACACACACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01433.hp2 others(9): Show HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01517.hp1 HG01952.hp2 HG02055.hp2 HG02257.hp1 HG04228.hp2 NA18522.hp1 NA18955.hp1 NA19062.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0026	a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0003g0258 others(9): Show a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0003g0258 a0001c0001t0005g0139 a0001c0001t0006g0070 a0001c0001t0009g0243 a0001c0001t0011g0154 a0001c0001t0013g0223 a0001c0001t0016g0027 a0001c0001t0021g0001 a0001c0001t0026g0311 a0001c0001t0026g0314	12	314	0.0382	26	c.163 others(45): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(19): Show CTTCCTTCCTTCCTTCCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0223 a0001c0001t0013g0223	1	314	0.0032	26	c.182 others(43): Show c.182-6654_182-6653insAGAAGAAGAAGGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp2 HG02622.hp2 others(1): Show HG00735.hp2 HG02451.hp2 HG02622.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0276 a0001c0001t0008g0101 a0001c0001t0010g0157 others(1): Show a0001c0001t0002g0276 a0001c0001t0008g0101 a0001c0001t0010g0157 a0001c0001t0011g0158	4	314	0.0127	26	c.-25 others(45): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATACAT others(19): Show ATATACATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03139.hp2 HG02683.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0010g0157 a0001c0001t0001g0003 a0001c0001t0010g0157	2	314	0.0064	26	c.-25 others(45): Show c.-25-24474_-25-24473insCATATATATATATATATATATGTATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57759155	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0282 a0003c0003t0018g0282	1	314	0.0032	26	c.-25 others(45): Show c.-25-27349_-25-27324dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57787400	G G	GCACTGCG others(19): Show GCACTGCGGGAGGAGCTCCATCTAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG02970.hp2 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0004 a0001c0001t0001 a0004c0008t0004	a0001c0001t0001g0003 a0004c0008t0004g0004 a0001c0001t0001g0003 a0004c0008t0004g0004	2	314	0.0064	26	c.-26 others(45): Show c.-26+15572_-26+15597dupTTCTAGATGGAGCTCCTCCCGCAGTG	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18943.hp2 HG00741.hp1 NA18943.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0202 a0001c0004t0004g0288 a0001c0004t0004g0202 a0001c0004t0004g0288	2	312	0.0064	26	c.150 others(45): Show c.1507-3248_1507-3223dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03453.hp2 HG00642.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0007 a0001c0001t0013 a0001c0002t0007	a0001c0001t0013g0134 a0001c0002t0007g0207 a0001c0001t0013g0134 a0001c0002t0007g0207	2	312	0.0064	26	c.328 others(43): Show c.328-5766_328-5741dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79245551	G G	GGAGGGCA others(19): Show GGAGGGCACCACCCTACTGACTGTGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(103): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(19): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0024 a0001c0037 a0001c0039 a0002c0002 a0003c0007 a0003c0020 a0003c0021 a0004c0008 a0004c0036 a0006c0012 a0010c0029 a0012c0018 a0015c0027 a0016c0028	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(30): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0004 a0001c0011t0006 a0001c0013t0004 a0001c0014t0006 a0001c0024t0004 a0001c0037t0003 a0001c0039t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0004c0008t0001 a0004c0036t0001 a0006c0012t0003 a0010c0029t0004 a0012c0018t0002 a0015c0027t0003 a0016c0028t0012	a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0003t0001g0136 others(102): Show a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0024t0004g0058 a0001c0037t0003g0104 a0001c0039t0002g0266 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0003g0198 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0010c0029t0004g0220 a0012c0018t0002g0114 a0015c0027t0003g0139 a0016c0028t0012g0144	106	298	0.3557	26	c.110 others(45): Show c.1108-7821_1108-7820insACCCTACTGACTGTGCAGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(19): Show CCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18522.hp1 NA18955.hp2 HG00639.hp2 NA18522.hp1 NA18955.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0006 a0003c0007 a0001c0004 a0001c0006 a0003c0007	a0001c0004t0003 a0001c0006t0003 a0003c0007t0004 a0001c0004t0003 a0001c0006t0003 a0003c0007t0004	a0001c0004t0003g0056 a0001c0006t0003g0268 a0003c0007t0004g0283 a0001c0004t0003g0056 a0001c0006t0003g0268 a0003c0007t0004g0283	3	298	0.0101	26	c.126 others(45): Show c.1268+2716_1268+2717insCATATATATATATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18982.hp2 NA18984.hp1 HG00408.hp2 NA18982.hp2 NA18984.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0004 a0002c0002 a0012c0018 a0001c0004 a0002c0002 a0012c0018	a0001c0004t0003 a0002c0002t0014 a0012c0018t0002 a0001c0004t0003 a0002c0002t0014 a0012c0018t0002	a0001c0004t0003g0120 a0002c0002t0014g0187 a0012c0018t0002g0114 a0001c0004t0003g0120 a0002c0002t0014g0187 a0012c0018t0002g0114	3	298	0.0101	26	c.126 others(45): Show c.1268+2721_1268+2746dupTATATATATATATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20752.hp2 HG02735.hp2 NA20752.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0008t0001g0274 a0004c0008t0001g0275	2	298	0.0067	26	c.126 others(45): Show c.1268+2746_1268+2747insTATATATATATATATACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	298	0.0034	26	c.126 others(45): Show c.1268+2746_1268+2747insTATATATATATATATATATACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG03195.hp1 HG02717.hp2 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0006 a0001c0014t0006 a0001c0011t0006 a0001c0014t0006	a0001c0011t0006g0107 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0011t0006g0107 a0001c0014t0006g0017 a0001c0014t0006g0093	3	298	0.0101	26	c.126 others(45): Show c.1268+2746_1268+2747insTATATATATATATATATATATATACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp2 HG02074.hp2 HG01515.hp1 HG01515.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0192 a0001c0001t0001g0234 a0001c0001t0001g0047 a0001c0001t0001g0192 a0001c0001t0001g0234	3	328	0.0092	26	c.733 others(41): Show c.733-487_733-462dupTGTGTGTGTGTGTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	128	0.0078	26	c.153 others(45): Show c.1532+8050_1532+8051insATATATATATATATATTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0047 a0001c0003t0041g0047	1	128	0.0078	26	c.332 others(47): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT GT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18995.hp1 HG02300.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0056 a0001c0002t0004g0058	2	128	0.0156	26	c.332 others(47): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTGT GT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	128	0.0078	26	c.401 others(45): Show c.4018+8459_4018+8460insAAAAAAAAAAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115906926	T T	TGAATATC others(19): Show TGAATATCCCTTATCAAGGAATTCAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01109.hp1 others(36): Show HG00639.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18994.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0002c0004 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0039 a0001c0003t0047 a0001c0005t0007 a0001c0005t0021 a0001c0005t0032 a0001c0006t0013 a0001c0007t0027 a0001c0007t0030 a0001c0015t0034 a0002c0004t0007 a0002c0004t0012 a0002c0008t0044	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0003g0061 others(36): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0003g0061 a0001c0001t0006g0109 a0001c0001t0007g0027 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0011g0112 a0001c0001t0013g0019 a0001c0001t0014g0001 a0001c0001t0020g0115 a0001c0001t0022g0032 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0001t0036g0117 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0001t0048g0107 a0001c0002t0001g0103 a0001c0002t0006g0062 a0001c0003t0001g0083 a0001c0003t0003g0060 a0001c0003t0014g0089 a0001c0003t0039g0126 a0001c0003t0047g0128 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0013g0029 a0001c0007t0027g0006 a0001c0007t0030g0008 a0001c0015t0034g0110 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0008t0044g0063	39	128	0.3047	26	c.401 others(47): Show c.4019-37732_4019-37731insGAATATCCCTTATCAAGGAATTCA AA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28			chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0029 a0003c0008t0029	a0003c0008t0029g0196 a0003c0008t0029g0196	1	220	0.0046	26	c.411 others(45): Show c.411-23145_411-23144insATATATATATATATATATATATATTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0197 a0003c0008t0005g0197	1	220	0.0046	26	c.411 others(45): Show c.411-23145_411-23144insATATATATATATATATATATATTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02886.hp2 NA18952.hp2 others(6): Show HG01496.hp2 HG02886.hp2 NA18952.hp2 NA18985.hp1 NA19063.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0007t0006	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0002t0003g0135 a0001c0002t0006g0067 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203	9	220	0.0409	26	c.346 others(43): Show c.3469+645_3469+646insTATATATATATATATATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0002g0133 a0001c0001t0001g0132 a0001c0001t0002g0133	2	218	0.0092	26	c.455 others(43): Show c.4557+871_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(19): Show CTATAAATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 NA20905.hp1 HG02895.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0068 a0002c0002t0001g0011 a0001c0001t0007g0068 a0002c0002t0001g0011	2	218	0.0092	26	c.-49 others(37): Show c.-4990_-4989insTATATATATATATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142516983	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0001g0316 a0001c0004t0001g0317	2	322	0.0062	26	c.438 others(45): Show c.4383-1469_4383-1468insTATATATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	322	0.0031	26	c.394 others(45): Show c.3946-4681_3946-4656dupATATATATATATATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	322	0.0031	26	c.394 others(45): Show c.3946-4681_3946-4680insAATATATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 NA20300.hp2 HG00738.hp2 HG00741.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0139	3	322	0.0093	26	c.335 others(45): Show c.3358-1721_3358-1696dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00735.hp1 others(10): Show HG00438.hp2 HG00597.hp2 HG00735.hp1 HG01346.hp1 HG02300.hp1 HG02615.hp2 HG02723.hp2 HG03834.hp2 NA18612.hp2 NA18955.hp1 NA18993.hp2 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0013	a0001c0001 a0002c0002 a0002c0004 others(7): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0041 a0006c0008 a0009c0016 a0010c0010 a0013c0038	a0001c0001t0002 a0002c0002t0008 a0002c0004t0001 others(8): Show a0001c0001t0002 a0002c0002t0008 a0002c0004t0001 a0003c0003t0001 a0004c0005t0002 a0004c0005t0008 a0004c0041t0001 a0006c0008t0002 a0009c0016t0028 a0010c0010t0006 a0013c0038t0034	a0001c0001t0002g0129 a0002c0002t0008g0138 a0002c0004t0001g0174 others(10): Show a0001c0001t0002g0129 a0002c0002t0008g0138 a0002c0004t0001g0174 a0003c0003t0001g0042 a0003c0003t0001g0049 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0005t0008g0068 a0004c0041t0001g0156 a0006c0008t0002g0013 a0009c0016t0028g0141 a0010c0010t0006g0008 a0013c0038t0034g0139	13	182	0.0714	26	c.-16 others(47): Show c.-161+45323_-161+45324insCTTTCTTTTTTTTTTTTTTTTTTT TT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0072 a0004c0005t0002g0072	1	182	0.0055	26	c.-16 others(47): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0096 a0004c0005t0002g0096	1	182	0.0055	26	c.-36 others(45): Show c.-360-3377_-360-3376insGTGTGTATATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0010 a0003c0051t0010	a0003c0051t0010g0173 a0003c0051t0010g0173	1	182	0.0055	26	c.-36 others(45): Show c.-360-3377_-360-3376insGTGTATATATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00597.hp2 others(35): Show HG00140.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01109.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp1 HG02135.hp2 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02895.hp1 HG02896.hp1 HG03453.hp2 HG03492.hp1 HG03688.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18946.hp1 NA18955.hp2 NA18957.hp2 NA18986.hp2 NA19009.hp2 NA19060.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0017 a0019 a0023 a0024 a0028 a0029 a0035	a0001c0001 a0001c0027 a0002c0002 others(22): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0031 a0005c0006 a0006c0046 a0007c0009 a0008c0012 a0009c0016 a0009c0042 a0010c0039 a0011c0007 a0012c0011 a0016c0014 a0017c0022 a0019c0026 a0023c0034 a0024c0018 a0028c0053 a0029c0057 a0035c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0027t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0016 a0002c0004t0001 a0003c0003t0001 a0003c0003t0013 a0004c0005t0002 a0004c0015t0001 a0004c0031t0002 a0005c0006t0003 a0006c0046t0001 a0007c0009t0002 a0008c0012t0005 a0009c0016t0001 a0009c0042t0011 a0010c0039t0001 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0016c0014t0007 a0017c0022t0001 a0019c0026t0019 a0023c0034t0002 a0024c0018t0001 a0028c0053t0004 a0029c0057t0001 a0035c0036t0007	a0001c0001t0001g0043 a0001c0001t0002g0020 a0001c0001t0002g0076 others(35): Show a0001c0001t0001g0043 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0020g0002 a0001c0027t0001g0107 a0002c0002t0002g0089 a0002c0002t0007g0136 a0002c0002t0016g0111 a0002c0004t0001g0073 a0002c0004t0001g0182 a0003c0003t0001g0049 a0003c0003t0013g0027 a0003c0003t0013g0033 a0004c0005t0002g0122 a0004c0005t0002g0177 a0004c0015t0001g0176 a0004c0031t0002g0101 a0005c0006t0003g0057 a0006c0046t0001g0012 a0007c0009t0002g0028 a0007c0009t0002g0164 a0008c0012t0005g0091 a0009c0016t0001g0034 a0009c0042t0011g0047 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0003g0066 a0012c0011t0004g0086 a0016c0014t0007g0155 a0017c0022t0001g0104 a0017c0022t0001g0146 a0019c0026t0019g0001 a0023c0034t0002g0124 a0024c0018t0001g0009 a0028c0053t0004g0065 a0029c0057t0001g0016 a0035c0036t0007g0019	38	182	0.2088	26	c.-48 others(47): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG01070.hp2 HG01109.hp1 HG01243.hp1 HG02735.hp2 HG03041.hp2 HG03139.hp1 HG06807.hp2 NA18522.hp2 NA18973.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0011 a0015 a0029 a0030 a0032	a0001c0052 a0002c0002 a0003c0003 others(6): Show a0001c0052 a0002c0002 a0003c0003 a0003c0050 a0011c0007 a0015c0030 a0029c0057 a0030c0058 a0032c0045	a0001c0052t0047 a0002c0002t0010 a0003c0003t0013 others(6): Show a0001c0052t0047 a0002c0002t0010 a0003c0003t0013 a0003c0050t0045 a0011c0007t0002 a0015c0030t0004 a0029c0057t0001 a0030c0058t0018 a0032c0045t0018	a0001c0052t0047g0060 a0002c0002t0010g0015 a0003c0003t0013g0033 others(6): Show a0001c0052t0047g0060 a0002c0002t0010g0015 a0003c0003t0013g0033 a0003c0050t0045g0147 a0011c0007t0002g0169 a0015c0030t0004g0032 a0029c0057t0001g0016 a0030c0058t0018g0054 a0032c0045t0018g0059	9	182	0.0495	26	c.-61 others(47): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA CA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19004.hp2 NA18984.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0082 a0002c0002t0001g0031 a0002c0002t0001g0082	2	298	0.0067	26	c.251 others(43): Show c.251+9767_251+9792dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105731754	A A	AAAAGAAA others(19): Show AAAAGAAAAGAAAAGAAAAGAGAAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	252	0.0040	26	c.355 others(45): Show c.355+56849_355+56850insCTTTTCTCTTTTCTTTTCTTTTCTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)