Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP8A2_chr13_25366974_26030851	25902939	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0036 a0001c0017t0036	a0001c0017t0036g0019 a0001c0017t0036g0019	1	122	0.0082	20	c.318 others(41): Show c.3183+40545_3183+40564dupACACACACACACACACACAC	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(13): Show GTGTGTGTGTGTGTATGTGTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0033 a0006c0009t0033	a0006c0009t0033g0080 a0006c0009t0033g0080	1	314	0.0032	20	c.353 others(37): Show c.3532-171_3532-170insTACACATACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02572.hp2 others(4): Show HG01515.hp1 HG01517.hp2 HG02572.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 NA18946.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0041 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0041 a0004c0004t0046	a0001c0001t0002g0290 a0001c0001t0008g0041 a0001c0001t0008g0051 others(4): Show a0001c0001t0002g0290 a0001c0001t0008g0041 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0102 a0001c0001t0041g0192 a0004c0004t0046g0291	7	314	0.0223	20	c.353 others(37): Show c.3532-171_3532-170insTACACACACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57649190	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(51): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02129.hp2 HG02280.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18955.hp2 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19054.hp1 NA19065.hp2 NA19074.hp2 NA19087.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0012 a0001c0018 others(4): Show a0001c0001 a0001c0012 a0001c0018 a0002c0002 a0003c0003 a0006c0009 a0007c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(23): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0041 a0001c0001t0048 a0001c0012t0035 a0001c0018t0007 a0002c0002t0014 a0002c0002t0019 a0003c0003t0022 a0003c0003t0024 a0006c0009t0033 a0007c0011t0008	a0001c0001t0004g0128 a0001c0001t0005g0011 a0001c0001t0005g0039 others(51): Show a0001c0001t0004g0128 a0001c0001t0005g0011 a0001c0001t0005g0039 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0005g0085 a0001c0001t0006g0057 a0001c0001t0006g0082 a0001c0001t0007g0196 a0001c0001t0007g0219 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0007g0263 a0001c0001t0007g0270 a0001c0001t0007g0302 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0079 a0001c0001t0008g0099 a0001c0001t0008g0102 a0001c0001t0008g0104 a0001c0001t0009g0215 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0259 a0001c0001t0010g0151 a0001c0001t0010g0153 a0001c0001t0012g0178 a0001c0001t0012g0180 a0001c0001t0013g0223 a0001c0001t0013g0294 a0001c0001t0015g0156 a0001c0001t0015g0166 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0020g0193 a0001c0001t0025g0313 a0001c0001t0027g0310 a0001c0001t0028g0308 a0001c0001t0032g0005 a0001c0001t0041g0192 a0001c0001t0048g0312 a0001c0012t0035g0008 a0001c0018t0007g0234 a0002c0002t0014g0229 a0002c0002t0014g0266 a0002c0002t0014g0274 a0002c0002t0019g0137 a0003c0003t0022g0111 a0003c0003t0024g0144 a0003c0003t0024g0185 a0006c0009t0033g0080 a0007c0011t0008g0084	54	314	0.1720	20	c.353 others(37): Show c.3532-498_3532-479dupGATAGATAGATAGATAGATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG02647.hp1 others(7): Show HG00741.hp2 HG01261.hp1 HG02647.hp1 HG04199.hp1 NA18979.hp1 NA18987.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0008c0013t0017	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0058 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0100 a0001c0001t0003g0198 a0001c0001t0003g0244 a0001c0001t0016g0021 a0001c0001t0017g0217 a0008c0013t0017g0260	10	314	0.0319	20	c.163 others(39): Show c.1630+3739_1630+3758dupTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713157	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG03471.hp1 others(4): Show HG00735.hp2 HG01175.hp2 HG03471.hp1 NA18952.hp1 NA18994.hp1 NA19030.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023	a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0008g0104 others(4): Show a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0008g0104 a0001c0001t0010g0169 a0001c0001t0010g0176 a0001c0001t0011g0158 a0001c0001t0023g0168	7	314	0.0223	20	c.182 others(37): Show c.182-6590_182-6571dupAAGAAAGAAAGAAAGAAAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(13): Show TTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0166 a0001c0001t0015g0166	1	314	0.0032	20	c.182 others(37): Show c.182-6610_182-6609insGGAAGGAAGGAAGGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19012.hp1 HG02080.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0019 a0002c0002t0014 a0002c0002t0019	a0002c0002t0014g0237 a0002c0002t0019g0048 a0002c0002t0014g0237 a0002c0002t0019g0048	2	314	0.0064	20	c.182 others(37): Show c.182-6610_182-6609insGGAAGGAAAGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03239.hp1 HG03139.hp2 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0042 a0001c0001t0001 a0003c0003t0042	a0001c0001t0001g0003 a0003c0003t0042g0182 a0001c0001t0001g0003 a0003c0003t0042g0182	2	314	0.0064	20	c.182 others(37): Show c.182-6610_182-6609insGGAAAGAAAGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 NA18970.hp2 HG00099.hp2 HG01081.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0011 a0001c0001t0007g0257 a0001c0001t0007g0270 a0001c0001t0005g0011 a0001c0001t0007g0257 a0001c0001t0007g0270	3	314	0.0096	20	c.182 others(37): Show c.182-6654_182-6653insAGAAAGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp1 NA18979.hp2 others(5): Show HG01243.hp2 HG02074.hp1 NA18979.hp2 NA18983.hp1 NA18994.hp2 NA19001.hp1 NA19090.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0008c0013t0017	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0250 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0250 a0001c0001t0006g0110 a0001c0001t0008g0032 a0001c0001t0011g0191 a0001c0001t0012g0178 a0008c0013t0017g0260	8	314	0.0255	20	c.182 others(37): Show c.182-6654_182-6653insAGAAAGAAAGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(13): Show CTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18984.hp1 NA20752.hp2 HG01993.hp2 NA18984.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0035 a0001c0001t0007g0300 a0001c0001t0011g0174 a0001c0001t0001g0035 a0001c0001t0007g0300 a0001c0001t0011g0174	3	314	0.0096	20	c.182 others(37): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp1 HG02723.hp1 others(2): Show HG01123.hp1 HG01884.hp1 HG02723.hp1 HG02886.hp2 HG03209.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0011 a0001c0001 a0004c0004 a0007c0011	a0001c0001t0004 a0001c0001t0032 a0004c0004t0034 others(1): Show a0001c0001t0004 a0001c0001t0032 a0004c0004t0034 a0007c0011t0008	a0001c0001t0004g0047 a0001c0001t0004g0128 a0001c0001t0032g0005 others(2): Show a0001c0001t0004g0047 a0001c0001t0004g0128 a0001c0001t0032g0005 a0004c0004t0034g0088 a0007c0011t0008g0084	5	314	0.0159	20	c.-25 others(39): Show c.-25-24474_-25-24473insCATATATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57759155	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	314	0.0032	20	c.-25 others(39): Show c.-25-27343_-25-27324dupTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57764245	G G	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	314	0.0032	20	c.-25 others(39): Show c.-25-32433_-25-32414dupAAAGAAGGAAGGAAGGAAGG	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1778891	C C	CACACACA others(13): Show CACACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0075 a0008c0075	a0008c0075t0009 a0008c0075t0009	a0008c0075t0009g0204 a0008c0075t0009g0204	1	390	0.0026	20	c.41 others(31): Show c.4136_*4137insATGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		3183		chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49861473	T T	TCTATCTA others(13): Show TCTATCTATCTATCTACCTAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 NA19043.hp2 HG02451.hp2 HG03139.hp2 NA19043.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0013 a0001c0001 a0002c0002 a0012c0013	a0001c0001t0010 a0002c0002t0010 a0012c0013t0010 a0001c0001t0010 a0002c0002t0010 a0012c0013t0010	a0001c0001t0010g0092 a0002c0002t0010g0093 a0012c0013t0010g0223 a0001c0001t0010g0092 a0002c0002t0010g0093 a0012c0013t0010g0223	3	254	0.0118	20	c.329 others(37): Show c.3297+771_3297+772insGTAGGTAGATAGATAGATAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	27/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50027379	G G	GTGGATGG others(13): Show GTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01123.hp2 others(35): Show HG00423.hp1 HG00558.hp1 HG01123.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18953.hp2 NA18969.hp1 NA18977.hp2 NA19007.hp1 NA19043.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0010 a0005c0005 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0010 a0003c0003t0002 a0003c0003t0003 a0004c0004t0009 a0004c0004t0011 a0004c0010t0005 a0005c0005t0002 a0006c0006t0004 a0007c0007t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 others(35): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0086 a0001c0001t0003g0105 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0015g0012 a0001c0001t0019g0035 a0001c0001t0020g0024 a0001c0001t0022g0087 a0001c0001t0029g0250 a0001c0001t0031g0241 a0002c0002t0001g0132 a0002c0002t0001g0188 a0002c0002t0001g0220 a0002c0002t0001g0228 a0002c0002t0001g0252 a0002c0002t0002g0009 a0002c0002t0002g0065 a0002c0002t0006g0146 a0002c0002t0010g0093 a0003c0003t0002g0011 a0003c0003t0002g0036 a0003c0003t0003g0140 a0003c0003t0003g0141 a0004c0004t0009g0091 a0004c0004t0009g0097 a0004c0004t0011g0063 a0004c0010t0005g0098 a0005c0005t0002g0014 a0006c0006t0004g0048 a0007c0007t0001g0240 a0007c0007t0001g0242 a0007c0007t0001g0243	38	254	0.1496	20	c.362 others(39): Show c.362+11369_362+11388dupTCCATCCATCCATCCATCCA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104866	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00609.hp1 others(17): Show HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00735.hp2 HG01071.hp2 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG03490.hp2 HG03669.hp1 HG03704.hp2 NA18953.hp1 NA18963.hp2 NA18977.hp2 NA18983.hp2 NA19007.hp2 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19084.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0002c0002t0001 a0002c0002t0003 a0003c0003t0003 a0005c0005t0001 a0014c0016t0001	a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0211 others(17): Show a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0002g0008 a0001c0001t0003g0210 a0001c0001t0026g0233 a0002c0002t0001g0118 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0003g0204 a0002c0002t0003g0214 a0003c0003t0003g0234 a0005c0005t0001g0207 a0014c0016t0001g0212	20	254	0.0787	20	c.28+ others(35): Show c.28+2053_28+2072dupGTGTGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104887	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp2 HG00408.hp2 HG02080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0174 a0002c0002t0001g0194 a0001c0001t0001g0174 a0002c0002t0001g0194	2	254	0.0079	20	c.28+ others(35): Show c.28+2051_28+2052insGGTGTGTGTGTGTGTGTGTG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51608922	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	312	0.0032	20	c.263 others(37): Show c.2637-316_2637-297dupACACACACACACACACACAC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	24/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01891.hp2 others(5): Show HG00140.hp1 HG01168.hp1 HG01891.hp2 HG02965.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0066 a0001c0002t0005 a0001c0003t0014 others(1): Show a0001c0001t0066 a0001c0002t0005 a0001c0003t0014 a0001c0003t0028	a0001c0001t0066g0117 a0001c0002t0005g0048 a0001c0002t0005g0054 others(5): Show a0001c0001t0066g0117 a0001c0002t0005g0048 a0001c0002t0005g0054 a0001c0003t0014g0152 a0001c0003t0014g0153 a0001c0003t0014g0157 a0001c0003t0014g0158 a0001c0003t0028g0095	8	312	0.0256	20	c.166 others(39): Show c.1668+3521_1668+3540dupTCCTTCCTTCCTTCCTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00558.hp1 others(60): Show HG00099.hp1 HG00323.hp1 HG00558.hp1 HG00673.hp2 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02165.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02976.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 others(2): Show a0001c0001 a0001c0011 a0001c0013 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0055 a0001c0001t0059 a0001c0001t0063 a0001c0001t0075 a0001c0011t0048 a0001c0013t0002 a0001c0016t0010 a0001c0017t0001	a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0077 others(60): Show a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0305 a0001c0001t0004g0063 a0001c0001t0006g0276 a0001c0001t0008g0072 a0001c0001t0009g0078 a0001c0001t0011g0101 a0001c0001t0011g0139 a0001c0001t0011g0245 a0001c0001t0013g0051 a0001c0001t0013g0128 a0001c0001t0017g0041 a0001c0001t0019g0248 a0001c0001t0019g0308 a0001c0001t0026g0285 a0001c0001t0035g0194 a0001c0001t0038g0025 a0001c0001t0040g0024 a0001c0001t0042g0148 a0001c0001t0045g0249 a0001c0001t0055g0260 a0001c0001t0059g0256 a0001c0001t0063g0115 a0001c0001t0075g0074 a0001c0011t0048g0209 a0001c0013t0002g0105 a0001c0016t0010g0061 a0001c0017t0001g0304	63	312	0.2019	20	c.166 others(39): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638069	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0134 a0001c0001t0013g0134	1	312	0.0032	20	c.166 others(39): Show c.1668+1273_1668+1274insTATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0169 a0001c0004t0017g0169	1	312	0.0032	20	c.166 others(39): Show c.1668+1252_1668+1271dupTATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18944.hp1 NA18983.hp2 HG03579.hp2 NA18944.hp1 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0032 a0001c0004t0004 a0001c0003t0032 a0001c0004t0004	a0001c0003t0032g0107 a0001c0004t0004g0109 a0001c0004t0004g0187 a0001c0003t0032g0107 a0001c0004t0004g0109 a0001c0004t0004g0187	3	312	0.0096	20	c.150 others(39): Show c.1507-3242_1507-3223dupTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651156	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01257.hp1 others(6): Show HG00642.hp2 HG01070.hp1 HG01257.hp1 HG03834.hp1 NA18951.hp2 NA18952.hp2 NA19005.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0035 a0001c0010t0003	a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0208 others(6): Show a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0001g0264 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0011g0163 a0001c0001t0035g0194 a0001c0010t0003g0075	9	312	0.0289	20	c.150 others(39): Show c.1506+5781_1506+5782insCATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	312	0.0032	20	c.129 others(39): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01099.hp1 HG00140.hp2 HG00735.hp2 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021	a0001c0002t0005g0144 a0001c0002t0020g0102 a0001c0002t0021g0300 a0001c0002t0005g0144 a0001c0002t0020g0102 a0001c0002t0021g0300	3	312	0.0096	20	c.328 others(37): Show c.328-5760_328-5741dupTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGACAGA others(13): Show TAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	312	0.0032	20	c.69- others(37): Show c.69-18990_69-18971dupGTCTGTCTGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(13): Show TAGATAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 NA18970.hp1 HG02055.hp1 HG03041.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0023 a0001c0003t0014 a0001c0001t0012 a0001c0001t0023 a0001c0003t0014	a0001c0001t0012g0080 a0001c0001t0023g0100 a0001c0003t0014g0126 a0001c0001t0012g0080 a0001c0001t0023g0100 a0001c0003t0014g0126	3	312	0.0096	20	c.69- others(37): Show c.69-18971_69-18970insGTCTGTCTGTCTGTCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(13): Show TAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 NA18995.hp1 others(5): Show HG00609.hp1 HG00673.hp2 NA18995.hp1 NA19005.hp1 NA19010.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0062 a0001c0013t0002	a0001c0001t0001g0077 a0001c0001t0002g0261 a0001c0001t0002g0280 others(5): Show a0001c0001t0001g0077 a0001c0001t0002g0261 a0001c0001t0002g0280 a0001c0001t0003g0263 a0001c0001t0006g0262 a0001c0001t0011g0099 a0001c0001t0062g0292 a0001c0013t0002g0105	8	312	0.0256	20	c.69- others(37): Show c.69-18971_69-18970insGTCTGTCTGTCTATCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(13): Show TAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp1 HG02155.hp2 others(1): Show HG01981.hp2 HG02004.hp1 HG02155.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0003 a0001c0001t0019 a0001c0001t0078 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0078 a0001c0020t0009	a0001c0001t0003g0205 a0001c0001t0019g0294 a0001c0001t0078g0038 others(1): Show a0001c0001t0003g0205 a0001c0001t0019g0294 a0001c0001t0078g0038 a0001c0020t0009g0127	4	312	0.0128	20	c.69- others(37): Show c.69-18971_69-18970insGTCTGTCTATCTATCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765642	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	312	0.0032	20	c.68+ others(35): Show c.68+2659_68+2660insTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp1 HG02155.hp1 others(5): Show HG02074.hp2 HG02135.hp1 HG02155.hp1 HG02300.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0026 a0002c0002 others(2): Show a0001c0001 a0001c0026 a0002c0002 a0005c0009 a0008c0030	a0001c0001t0001 a0001c0026t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0026t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0005c0009t0005 a0008c0030t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0026t0001g0038 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0026t0001g0038 a0002c0002t0002g0256 a0002c0002t0004g0253 a0002c0002t0009g0255 a0005c0009t0005g0165 a0008c0030t0001g0254	8	298	0.0269	20	c.119 others(37): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79163869	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	298	0.0034	20	c.778 others(37): Show c.778+9332_778+9351dupCACACACACACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02132.hp1 HG02258.hp2 others(4): Show HG01884.hp1 HG02132.hp1 HG02258.hp2 HG02559.hp2 HG03041.hp2 NA18962.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0006 others(2): Show a0001c0003 a0001c0004 a0001c0006 a0001c0037 a0002c0002	a0001c0003t0003 a0001c0004t0004 a0001c0006t0004 others(2): Show a0001c0003t0003 a0001c0004t0004 a0001c0006t0004 a0001c0037t0003 a0002c0002t0009	a0001c0003t0003g0123 a0001c0003t0003g0147 a0001c0003t0003g0151 others(4): Show a0001c0003t0003g0123 a0001c0003t0003g0147 a0001c0003t0003g0151 a0001c0004t0004g0117 a0001c0006t0004g0273 a0001c0037t0003g0104 a0002c0002t0009g0255	7	298	0.0235	20	c.126 others(39): Show c.1268+2727_1268+2746dupTATATATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256284	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0121 a0001c0003t0003g0121	1	298	0.0034	20	c.126 others(39): Show c.1268+2746_1268+2747insTATATATATATATATACATA	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(13): Show TATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0270 a0004c0008t0001g0270	1	298	0.0034	20	c.126 others(39): Show c.1268+2746_1268+2747insTATATATATACACACACACA	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(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0058 a0001c0024t0004g0058	1	298	0.0034	20	c.126 others(39): Show c.1268+2746_1268+2747insTATATATATATATACACACA	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(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0105	1	298	0.0034	20	c.126 others(39): Show c.1268+2746_1268+2747insTATATATATATATATATACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327566	G G	GTGGTTAG others(13): Show GTGGTTAGTGTGCTCTCTCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02976.hp2 others(1): Show HG02257.hp2 HG02965.hp1 HG02976.hp2 HG03486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 others(1): Show a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282	4	298	0.0134	20	c.177 others(39): Show c.1774-1568_1774-1567insTGTGCTCTCTCCATGGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(13): Show CACACACACACACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0202 a0002c0005t0001g0202	1	298	0.0034	20	c.330 others(37): Show c.3307+789_3307+790insCACACACACACAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(13): Show CACACACACACACACACAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19010.hp2 HG03669.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0007 a0001c0001t0001g0062	2	298	0.0067	20	c.330 others(37): Show c.3307+789_3307+790insCACACACACACACACAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(13): Show CACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18948.hp2 HG01071.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0059 a0001c0003t0001g0136 a0001c0001t0001g0059 a0001c0003t0001g0136	2	298	0.0067	20	c.330 others(37): Show c.3307+789_3307+790insCACACACACACACACACAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG03453.hp1 HG00609.hp1 HG00642.hp1 HG03453.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0003 a0003c0004t0005 a0001c0001t0001 a0002c0002t0003 a0003c0004t0005	a0001c0001t0001g0092 a0002c0002t0003g0038 a0003c0004t0005g0059 a0001c0001t0001g0092 a0002c0002t0003g0038 a0003c0004t0005g0059	3	328	0.0092	20	c.733 others(35): Show c.733-481_733-462dupTGTGTGTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0027	1	128	0.0078	20	c.153 others(39): Show c.1532+8050_1532+8051insATATATATATATATATATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0016 a0001c0003t0031g0016	1	128	0.0078	20	c.153 others(39): Show c.1532+8050_1532+8051insATATATATATTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115225475	T T	TTAATATA others(13): Show TTAATATAATATAATATAATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01109.hp1 others(8): Show HG00735.hp1 HG01081.hp1 HG01109.hp1 HG01943.hp1 HG02280.hp1 HG02809.hp1 HG02970.hp1 HG03834.hp2 NA18959.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0002c0008	a0001c0001t0002 a0001c0001t0009 a0001c0001t0035 others(8): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0035 a0001c0002t0028 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0006t0033 a0002c0004t0002 a0002c0004t0007 a0002c0008t0044	a0001c0001t0002g0077 a0001c0001t0009g0122 a0001c0001t0035g0118 others(8): Show a0001c0001t0002g0077 a0001c0001t0009g0122 a0001c0001t0035g0118 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0003t0003g0049 a0001c0003t0004g0042 a0001c0006t0033g0035 a0002c0004t0002g0012 a0002c0004t0007g0011 a0002c0008t0044g0063	11	128	0.0859	20	c.153 others(39): Show c.1532+9607_1532+9626dupAATATAATATAATATAATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115230911	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0057 a0001c0002t0005g0057	1	128	0.0078	20	c.153 others(41): Show c.1533-10649_1533-10648insGAGAGAGAAAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar

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